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 10 128147643 128147643 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr10:128147643G>T c.1863C>A c.(1861-1863)agC>agA p.S621R ACC 10 128153420 128153420 + Missense_Mutation SNP C C G TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr10:128153420C>G c.1379G>C c.(1378-1380)tGt>tCt p.C460S ACC 10 128193343 128193343 + Silent SNP G G A TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr10:128193343G>A c.426C>T c.(424-426)atC>atT p.I142I BLCA 10 128114450 128114450 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr10:128114450G>C c.2083C>G c.(2083-2085)Caa>Gaa p.Q695E BLCA 10 128153310 128153310 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr10:128153310G>A c.1489C>T c.(1489-1491)Ctg>Ttg p.L497L BLCA 10 128192613 128192613 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr10:128192613C>T c.1156G>A c.(1156-1158)Ggg>Agg p.G386R BLCA 10 128192934 128192934 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr10:128192934G>C c.835C>G c.(835-837)Caa>Gaa p.Q279E BLCA 10 128192997 128192997 + Nonsense_Mutation SNP G G A TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr10:128192997G>A c.772C>T c.(772-774)Cag>Tag p.Q258* BLCA 10 128193148 128193148 + Silent SNP C C T TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr10:128193148C>T c.621G>A c.(619-621)ctG>ctA p.L207L BLCA 10 128193175 128193175 + Silent SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 g.chr10:128193175G>A c.594C>T c.(592-594)ttC>ttT p.F198F BLCA 10 128193261 128193261 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr10:128193261C>G c.508G>C c.(508-510)Gag>Cag p.E170Q BLCA 10 128193261 128193261 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr10:128193261C>T c.508G>A c.(508-510)Gag>Aag p.E170K BLCA 10 128193313 128193313 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 g.chr10:128193313G>A c.456C>T c.(454-456)cgC>cgT p.R152R BLCA 10 128193397 128193398 + In_Frame_Ins INS - - GGC TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr10:128193397_128193398insGGC c.371_372insGCC c.(370-372)ccc>ccGCCc p.124_124P>PP BLCA 10 128193466 128193466 + Silent SNP C C A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 g.chr10:128193466C>A c.303G>T c.(301-303)gcG>gcT p.A101A BLCA 10 128193480 128193480 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr10:128193480G>A c.289C>T c.(289-291)Cac>Tac p.H97Y BLCA 10 128193522 128193522 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr10:128193522G>T c.247C>A c.(247-249)Cac>Aac p.H83N BLCA 10 128193531 128193531 + Missense_Mutation SNP G G A TCGA-ZF-A9R9-01A-11D-A38G-08 TCGA-ZF-A9R9-10A-01D-A38J-08 g.chr10:128193531G>A c.238C>T c.(238-240)Cgt>Tgt p.R80C BRCA 10 128192743 128192743 + Missense_Mutation SNP A A C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr10:128192743A>C c.1026T>G c.(1024-1026)agT>agG p.S342R BRCA 10 128193182 128193182 + Missense_Mutation SNP G G A TCGA-B6-A402-01A-11D-A23C-09 TCGA-B6-A402-10A-01D-A23C-09 g.chr10:128193182G>A c.587C>T c.(586-588)aCa>aTa p.T196I BRCA 10 128193497 128193497 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr10:128193497C>T c.272G>A c.(271-273)cGc>cAc p.R91H BRCA 10 128209867 128209867 + Splice_Site DEL C C - TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 g.chr10:128209867delC c.e1+1 CESC 10 128193393 128193393 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr10:128193393C>G c.376G>C c.(376-378)Gag>Cag p.E126Q COAD 10 128114614 128114614 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:128114614T>G c.2007A>C c.(2005-2007)caA>caC p.Q669H COAD 10 128114623 128114623 + Frame_Shift_Del DEL T T - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr10:128114623delT c.1998delA c.(1996-1998)aaafs p.K666fs COAD 10 128118365 128118365 + Missense_Mutation SNP C C T TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr10:128118365C>T c.1952G>A c.(1951-1953)cGa>cAa p.R651Q COAD 10 128118366 128118366 + Nonsense_Mutation SNP G G A TCGA-AA-A00D-01A-01W-A005-10 TCGA-AA-A00D-10A-01W-A005-10 g.chr10:128118366G>A c.1951C>T c.(1951-1953)Cga>Tga p.R651* COAD 10 128118370 128118370 + Silent SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:128118370A>G c.1947T>C c.(1945-1947)caT>caC p.H649H COAD 10 128147752 128147752 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr10:128147752G>T c.1754C>A c.(1753-1755)tCt>tAt p.S585Y COAD 10 128147770 128147770 + Missense_Mutation SNP C C T TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr10:128147770C>T c.1736G>A c.(1735-1737)cGt>cAt p.R579H COAD 10 128147775 128147775 + Missense_Mutation SNP T T G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr10:128147775T>G c.1731A>C c.(1729-1731)gaA>gaC p.E577D COAD 10 128149983 128149983 + Missense_Mutation SNP G G C TCGA-AA-A029-01A-01W-A00E-09 TCGA-AA-A029-10A-01W-A00E-09 g.chr10:128149983G>C c.1706C>G c.(1705-1707)tCt>tGt p.S569C COAD 10 128150152 128150152 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr10:128150152C>A c.1537G>T c.(1537-1539)Gat>Tat p.D513Y COAD 10 128192614 128192614 + Silent SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr10:128192614T>C c.1155A>G c.(1153-1155)aaA>aaG p.K385K COAD 10 128192675 128192675 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr10:128192675G>T c.1094C>A c.(1093-1095)tCt>tAt p.S365Y COAD 10 128192680 128192680 + Silent SNP A A G TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr10:128192680A>G c.1089T>C c.(1087-1089)agT>agC p.S363S COAD 10 128192694 128192694 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr10:128192694C>T c.1075G>A c.(1075-1077)Gct>Act p.A359T COAD 10 128193011 128193011 + Missense_Mutation SNP T T A TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr10:128193011T>A c.758A>T c.(757-759)cAc>cTc p.H253L COAD 10 128193034 128193034 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:128193034C>T c.735G>A c.(733-735)ccG>ccA p.P245P COAD 10 128193063 128193063 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr10:128193063G>A c.706C>T c.(706-708)Cca>Tca p.P236S COAD 10 128193110 128193110 + Missense_Mutation SNP C C T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr10:128193110C>T c.659G>A c.(658-660)cGc>cAc p.R220H COAD 10 128193313 128193313 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr10:128193313G>A c.456C>T c.(454-456)cgC>cgT p.R152R COAD 10 128193313 128193313 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:128193313G>A c.456C>T c.(454-456)cgC>cgT p.R152R COAD 10 128193320 128193320 + Frame_Shift_Del DEL G G - TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr10:128193320delG c.449delC c.(448-450)ccafs p.P150fs COAD 10 128193333 128193333 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr10:128193333G>A c.436C>T c.(436-438)Cgc>Tgc p.R146C COAD 10 128193374 128193374 + Frame_Shift_Del DEL C C - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr10:128193374delC c.395delG c.(394-396)ggcfs p.G132fs COAD 10 128193375 128193375 + Missense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr10:128193375C>A c.394G>T c.(394-396)Ggc>Tgc p.G132C COAD 10 128193400 128193400 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr10:128193400C>T c.369G>A c.(367-369)ccG>ccA p.P123P COAD 10 128193470 128193470 + Missense_Mutation SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr10:128193470A>G c.299T>C c.(298-300)tTt>tCt p.F100S COAD 10 128202460 128202460 + Frame_Shift_Del DEL T T - TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr10:128202460delT c.71delA c.(70-72)aatfs p.N24fs COAD 10 128202503 128202503 + Missense_Mutation SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr10:128202503G>A c.28C>T c.(28-30)Cgg>Tgg p.R10W COADREAD 10 128114574 128114574 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:128114574C>T c.2047G>A c.(2047-2049)Gaa>Aaa p.E683K COADREAD 10 128114614 128114614 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:128114614T>G c.2007A>C c.(2005-2007)caA>caC p.Q669H COADREAD 10 128114623 128114623 + Frame_Shift_Del DEL T T - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr10:128114623delT c.1998delA c.(1996-1998)aaafs p.K666fs COADREAD 10 128114641 128114641 + Silent SNP C C T TCGA-AG-3883-01A-02W-0899-10 TCGA-AG-3883-10A-01W-0901-10 g.chr10:128114641C>T c.1980G>A c.(1978-1980)ccG>ccA p.P660P COADREAD 10 128118365 128118365 + Missense_Mutation SNP C C T TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr10:128118365C>T c.1952G>A c.(1951-1953)cGa>cAa p.R651Q COADREAD 10 128118366 128118366 + Nonsense_Mutation SNP G G A TCGA-AA-A00D-01A-01W-A005-10 TCGA-AA-A00D-10A-01W-A005-10 g.chr10:128118366G>A c.1951C>T c.(1951-1953)Cga>Tga p.R651* COADREAD 10 128118370 128118370 + Silent SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:128118370A>G c.1947T>C c.(1945-1947)caT>caC p.H649H COADREAD 10 128147752 128147752 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr10:128147752G>T c.1754C>A c.(1753-1755)tCt>tAt p.S585Y COADREAD 10 128147770 128147770 + Missense_Mutation SNP C C T TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr10:128147770C>T c.1736G>A c.(1735-1737)cGt>cAt p.R579H COADREAD 10 128147775 128147775 + Missense_Mutation SNP T T G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr10:128147775T>G c.1731A>C c.(1729-1731)gaA>gaC p.E577D COADREAD 10 128149983 128149983 + Missense_Mutation SNP G G C TCGA-AA-A029-01A-01W-A00E-09 TCGA-AA-A029-10A-01W-A00E-09 g.chr10:128149983G>C c.1706C>G c.(1705-1707)tCt>tGt p.S569C COADREAD 10 128150152 128150152 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr10:128150152C>A c.1537G>T c.(1537-1539)Gat>Tat p.D513Y COADREAD 10 128153272 128153272 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:128153272G>A c.1527C>T c.(1525-1527)ttC>ttT p.F509F COADREAD 10 128153524 128153524 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:128153524C>A c.1275G>T c.(1273-1275)aaG>aaT p.K425N COADREAD 10 128192614 128192614 + Silent SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr10:128192614T>C c.1155A>G c.(1153-1155)aaA>aaG p.K385K COADREAD 10 128192675 128192675 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr10:128192675G>T c.1094C>A c.(1093-1095)tCt>tAt p.S365Y COADREAD 10 128192680 128192680 + Silent SNP A A G TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr10:128192680A>G c.1089T>C c.(1087-1089)agT>agC p.S363S COADREAD 10 128192694 128192694 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr10:128192694C>T c.1075G>A c.(1075-1077)Gct>Act p.A359T COADREAD 10 128193011 128193011 + Missense_Mutation SNP T T A TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr10:128193011T>A c.758A>T c.(757-759)cAc>cTc p.H253L COADREAD 10 128193034 128193034 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:128193034C>T c.735G>A c.(733-735)ccG>ccA p.P245P COADREAD 10 128193063 128193063 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr10:128193063G>A c.706C>T c.(706-708)Cca>Tca p.P236S COADREAD 10 128193073 128193073 + Silent SNP G G T TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr10:128193073G>T c.696C>A c.(694-696)acC>acA p.T232T COADREAD 10 128193110 128193110 + Missense_Mutation SNP C C T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr10:128193110C>T c.659G>A c.(658-660)cGc>cAc p.R220H COADREAD 10 128193236 128193236 + Frame_Shift_Del DEL G G - TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr10:128193236delG c.533delC c.(532-534)ccgfs p.P178fs COADREAD 10 128193313 128193313 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr10:128193313G>A c.456C>T c.(454-456)cgC>cgT p.R152R COADREAD 10 128193313 128193313 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:128193313G>A c.456C>T c.(454-456)cgC>cgT p.R152R COADREAD 10 128193320 128193320 + Frame_Shift_Del DEL G G - TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr10:128193320delG c.449delC c.(448-450)ccafs p.P150fs COADREAD 10 128193333 128193333 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr10:128193333G>A c.436C>T c.(436-438)Cgc>Tgc p.R146C COADREAD 10 128193374 128193374 + Frame_Shift_Del DEL C C - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr10:128193374delC c.395delG c.(394-396)ggcfs p.G132fs COADREAD 10 128193375 128193375 + Missense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr10:128193375C>A c.394G>T c.(394-396)Ggc>Tgc p.G132C COADREAD 10 128193400 128193400 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr10:128193400C>T c.369G>A c.(367-369)ccG>ccA p.P123P COADREAD 10 128193470 128193470 + Missense_Mutation SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr10:128193470A>G c.299T>C c.(298-300)tTt>tCt p.F100S COADREAD 10 128193589 128193589 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:128193589C>A c.180G>T c.(178-180)gaG>gaT p.E60D COADREAD 10 128202460 128202460 + Frame_Shift_Del DEL T T - TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr10:128202460delT c.71delA c.(70-72)aatfs p.N24fs COADREAD 10 128202503 128202503 + Missense_Mutation SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr10:128202503G>A c.28C>T c.(28-30)Cgg>Tgg p.R10W DLBC 10 128193433 128193433 + Silent SNP C C T TCGA-FA-A4XK-01A-11D-A31X-10 TCGA-FA-A4XK-10A-01D-A31X-10 g.chr10:128193433C>T c.336G>A c.(334-336)ccG>ccA p.P112P ESCA 10 128114440 128114440 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 g.chr10:128114440G>A c.2093C>T c.(2092-2094)gCg>gTg p.A698V ESCA 10 128147765 128147765 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 g.chr10:128147765G>A c.1741C>T c.(1741-1743)Cct>Tct p.P581S ESCA 10 128192578 128192578 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 g.chr10:128192578G>T c.1191C>A c.(1189-1191)agC>agA p.S397R ESCA 10 128193341 128193341 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 g.chr10:128193341G>A c.428C>T c.(427-429)aCg>aTg p.T143M ESCA 10 128193492 128193492 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 g.chr10:128193492C>T c.277G>A c.(277-279)Gga>Aga p.G93R ESCA 10 128193531 128193531 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr10:128193531G>A c.238C>T c.(238-240)Cgt>Tgt p.R80C ESCA 10 128193537 128193537 + Nonsense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 g.chr10:128193537G>A c.232C>T c.(232-234)Cag>Tag p.Q78* GBMLGG 10 128118356 128118356 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr10:128118356C>A c.1961G>T c.(1960-1962)aGa>aTa p.R654I GBMLGG 10 128147787 128147787 + Splice_Site SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr10:128147787C>T c.e6-1 HNSC 10 128118392 128118392 + Missense_Mutation SNP C C A TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr10:128118392C>A c.1925G>T c.(1924-1926)tGc>tTc p.C642F HNSC 10 128147687 128147687 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr10:128147687C>T c.1819G>A c.(1819-1821)Gag>Aag p.E607K HNSC 10 128192872 128192872 + Missense_Mutation SNP G G T TCGA-CN-A641-01A-11D-A30E-08 TCGA-CN-A641-10A-01D-A30H-08 g.chr10:128192872G>T c.897C>A c.(895-897)caC>caA p.H299Q HNSC 10 128193218 128193218 + Missense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 g.chr10:128193218G>A c.551C>T c.(550-552)gCc>gTc p.A184V KIPAN 10 128193076 128193076 + Missense_Mutation SNP C C G TCGA-BQ-5892-01A-11D-1589-08 TCGA-BQ-5892-11A-01D-1589-08 g.chr10:128193076C>G c.693G>C c.(691-693)gaG>gaC p.E231D KIRP 10 128193076 128193076 + Missense_Mutation SNP C C G TCGA-BQ-5892-01A-11D-1589-08 TCGA-BQ-5892-11A-01D-1589-08 g.chr10:128193076C>G c.693G>C c.(691-693)gaG>gaC p.E231D LGG 10 128118356 128118356 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr10:128118356C>A c.1961G>T c.(1960-1962)aGa>aTa p.R654I LGG 10 128147787 128147787 + Splice_Site SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr10:128147787C>T c.e6-1 LIHC 10 128114440 128114440 + Missense_Mutation SNP G G T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr10:128114440G>T c.2093C>A c.(2092-2094)gCg>gAg p.A698E LIHC 10 128147623 128147623 + Missense_Mutation SNP G G T TCGA-ED-A8O6-01A-11D-A35Z-10 TCGA-ED-A8O6-10A-01D-A35Z-10 g.chr10:128147623G>T c.1883C>A c.(1882-1884)cCc>cAc p.P628H LIHC 10 128150126 128150126 + Silent SNP T T A TCGA-DD-AACI-01A-11D-A40R-10 TCGA-DD-AACI-10A-01D-A40U-10 g.chr10:128150126T>A c.1563A>T c.(1561-1563)gtA>gtT p.V521V LIHC 10 128153427 128153427 + Missense_Mutation SNP C C T TCGA-DD-AADY-01A-11D-A40R-10 TCGA-DD-AADY-10A-01D-A40U-10 g.chr10:128153427C>T c.1372G>A c.(1372-1374)Gat>Aat p.D458N LIHC 10 128153451 128153451 + Missense_Mutation SNP G G A TCGA-2Y-A9GX-01A-11D-A382-10 TCGA-2Y-A9GX-10A-01D-A385-10 g.chr10:128153451G>A c.1348C>T c.(1348-1350)Ccc>Tcc p.P450S LIHC 10 128193357 128193357 + Missense_Mutation SNP C C A TCGA-BC-A10U-01A-11D-A12Z-10 TCGA-BC-A10U-11A-11D-A12Z-10 g.chr10:128193357C>A c.412G>T c.(412-414)Gca>Tca p.A138S LIHC 10 128193605 128193605 + Missense_Mutation SNP G G A TCGA-DD-AACI-01A-11D-A40R-10 TCGA-DD-AACI-10A-01D-A40U-10 g.chr10:128193605G>A c.164C>T c.(163-165)tCc>tTc p.S55F LUAD 10 128114584 128114584 + Missense_Mutation SNP T T A TCGA-55-7724-01A-11D-2167-08 TCGA-55-7724-10A-01D-2167-08 g.chr10:128114584T>A c.2037A>T c.(2035-2037)agA>agT p.R679S LUAD 10 128114599 128114599 + Silent SNP G G A TCGA-38-4630-01A-01D-1265-08 TCGA-38-4630-11A-01D-1265-08 g.chr10:128114599G>A c.2022C>T c.(2020-2022)atC>atT p.I674I LUAD 10 128118366 128118366 + Nonsense_Mutation SNP G G A TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr10:128118366G>A c.1951C>T c.(1951-1953)Cga>Tga p.R651* LUAD 10 128147624 128147624 + Missense_Mutation SNP G G T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr10:128147624G>T c.1882C>A c.(1882-1884)Ccc>Acc p.P628T LUAD 10 128147646 128147646 + Silent SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr10:128147646G>T c.1860C>A c.(1858-1860)acC>acA p.T620T LUAD 10 128147664 128147664 + Missense_Mutation SNP G G T TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr10:128147664G>T c.1842C>A c.(1840-1842)agC>agA p.S614R LUAD 10 128149993 128149993 + Missense_Mutation SNP G G T TCGA-64-5815-01A-01D-1625-08 TCGA-64-5815-10A-01D-1625-08 g.chr10:128149993G>T c.1696C>A c.(1696-1698)Cct>Act p.P566T LUAD 10 128153272 128153272 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 g.chr10:128153272G>T c.1527C>A c.(1525-1527)ttC>ttA p.F509L LUAD 10 128153375 128153375 + Missense_Mutation SNP C C G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 g.chr10:128153375C>G c.1424G>C c.(1423-1425)aGc>aCc p.S475T LUAD 10 128192664 128192664 + Nonsense_Mutation SNP C C A TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr10:128192664C>A c.1105G>T c.(1105-1107)Gaa>Taa p.E369* LUAD 10 128192773 128192773 + Silent SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 g.chr10:128192773G>A c.996C>T c.(994-996)ggC>ggT p.G332G LUAD 10 128192828 128192828 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr10:128192828G>A c.941C>T c.(940-942)cCa>cTa p.P314L LUAD 10 128193152 128193152 + Missense_Mutation SNP C C T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 g.chr10:128193152C>T c.617G>A c.(616-618)cGg>cAg p.R206Q LUAD 10 128193239 128193239 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr10:128193239G>A c.530C>T c.(529-531)cCc>cTc p.P177L LUAD 10 128193340 128193340 + Silent SNP C C T TCGA-64-5815-01A-01D-1625-08 TCGA-64-5815-10A-01D-1625-08 g.chr10:128193340C>T c.429G>A c.(427-429)acG>acA p.T143T LUAD 10 128193347 128193347 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 g.chr10:128193347G>C c.422C>G c.(421-423)aCc>aGc p.T141S LUAD 10 128202476 128202476 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr10:128202476G>C c.55C>G c.(55-57)Caa>Gaa p.Q19E LUSC 10 128114446 128114446 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr10:128114446C>T c.2087G>A c.(2086-2088)aGg>aAg p.R696K LUSC 10 128114630 128114630 + Missense_Mutation SNP T T A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr10:128114630T>A c.1991A>T c.(1990-1992)aAg>aTg p.K664M LUSC 10 128147613 128147613 + Silent SNP C C G TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr10:128147613C>G c.1893G>C c.(1891-1893)ctG>ctC p.L631L LUSC 10 128147646 128147646 + Silent SNP G G T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 g.chr10:128147646G>T c.1860C>A c.(1858-1860)acC>acA p.T620T LUSC 10 128150051 128150052 + Missense_Mutation DNP GG GG TT TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr10:128150051_128150052GG>TT c.1637_1638CC>AA c.(1636-1638)cCC>cAA p.P546Q LUSC 10 128150141 128150141 + Silent SNP G G A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 g.chr10:128150141G>A c.1548C>T c.(1546-1548)tgC>tgT p.C516C LUSC 10 128153489 128153489 + Missense_Mutation SNP G G T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr10:128153489G>T c.1310C>A c.(1309-1311)gCt>gAt p.A437D LUSC 10 128153547 128153547 + Missense_Mutation SNP T T C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr10:128153547T>C c.1252A>G c.(1252-1254)Aaa>Gaa p.K418E LUSC 10 128193239 128193239 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr10:128193239G>A c.530C>T c.(529-531)cCc>cTc p.P177L LUSC 10 128193390 128193390 + Nonsense_Mutation SNP C C A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 g.chr10:128193390C>A c.379G>T c.(379-381)Gag>Tag p.E127* OV 10 128114628 128114629 + Nonsense_Mutation DNP TC TC AA TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 g.chr10:128114628_128114629TC>AA c.1992_1993GA>TT c.(1990-1995)aaGAaa>aaTTaa p.664_665KK>N* OV 10 128147616 128147616 + Silent SNP A A C TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 g.chr10:128147616A>C c.1890T>G c.(1888-1890)ccT>ccG p.P630P PAAD 10 128147738 128147738 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 g.chr10:128147738G>A c.1768C>T c.(1768-1770)Cgg>Tgg p.R590W PAAD 10 128147750 128147750 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 g.chr10:128147750G>A c.1756C>T c.(1756-1758)Cgc>Tgc p.R586C PAAD 10 128193005 128193005 + Missense_Mutation SNP C C G TCGA-HV-A7OP-01A-11D-A33T-08 TCGA-HV-A7OP-10A-01D-A33W-08 g.chr10:128193005C>G c.764G>C c.(763-765)aGg>aCg p.R255T PAAD 10 128193207 128193207 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 g.chr10:128193207G>A c.562C>T c.(562-564)Cgg>Tgg p.R188W PCPG 10 128118419 128118419 + Splice_Site SNP T T C TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 g.chr10:128118419T>C c.1898A>G c.(1897-1899)gAt>gGt p.D633G PCPG 10 128153427 128153427 + Missense_Mutation SNP C C T TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 g.chr10:128153427C>T c.1372G>A c.(1372-1374)Gat>Aat p.D458N PRAD 10 128114440 128114440 + Missense_Mutation SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 g.chr10:128114440G>A c.2093C>T c.(2092-2094)gCg>gTg p.A698V PRAD 10 128118366 128118366 + Nonsense_Mutation SNP G G A TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 g.chr10:128118366G>A c.1951C>T c.(1951-1953)Cga>Tga p.R651* PRAD 10 128147783 128147783 + Missense_Mutation SNP C C T TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 g.chr10:128147783C>T c.1723G>A c.(1723-1725)Gca>Aca p.A575T PRAD 10 128192655 128192655 + Missense_Mutation SNP C C T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 g.chr10:128192655C>T c.1114G>A c.(1114-1116)Gaa>Aaa p.E372K READ 10 128114574 128114574 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:128114574C>T c.2047G>A c.(2047-2049)Gaa>Aaa p.E683K READ 10 128114641 128114641 + Silent SNP C C T TCGA-AG-3883-01A-02W-0899-10 TCGA-AG-3883-10A-01W-0901-10 g.chr10:128114641C>T c.1980G>A c.(1978-1980)ccG>ccA p.P660P READ 10 128153272 128153272 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:128153272G>A c.1527C>T c.(1525-1527)ttC>ttT p.F509F READ 10 128153524 128153524 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:128153524C>A c.1275G>T c.(1273-1275)aaG>aaT p.K425N READ 10 128193073 128193073 + Silent SNP G G T TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr10:128193073G>T c.696C>A c.(694-696)acC>acA p.T232T READ 10 128193236 128193236 + Frame_Shift_Del DEL G G - TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr10:128193236delG c.533delC c.(532-534)ccgfs p.P178fs READ 10 128193589 128193589 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:128193589C>A c.180G>T c.(178-180)gaG>gaT p.E60D SARC 10 128193333 128193333 + Missense_Mutation SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 g.chr10:128193333G>A c.436C>T c.(436-438)Cgc>Tgc p.R146C SKCM 10 128114453 128114453 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr10:128114453G>A c.2080C>T c.(2080-2082)Ctt>Ttt p.L694F SKCM 10 128114454 128114454 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr10:128114454G>A c.2079C>T c.(2077-2079)ctC>ctT p.L693L SKCM 10 128114580 128114580 + Missense_Mutation SNP G G A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr10:128114580G>A c.2041C>T c.(2041-2043)Cgt>Tgt p.R681C SKCM 10 128114581 128114581 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr10:128114581G>A c.2040C>T c.(2038-2040)ctC>ctT p.L680L SKCM 10 128147617 128147617 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr10:128147617G>A c.1889C>T c.(1888-1890)cCt>cTt p.P630L SKCM 10 128147757 128147757 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr10:128147757G>A c.1749C>T c.(1747-1749)ttC>ttT p.F583F SKCM 10 128192632 128192632 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr10:128192632G>A c.1137C>T c.(1135-1137)aaC>aaT p.N379N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 10 128192613 128192613 single base substitution C T downstream_gene_variant BLCA-US 10 128192613 128192613 single base substitution C T exon_variant BLCA-US 10 128192613 128192613 single base substitution C T missense_variant G25R 73G>A BLCA-US 10 128192613 128192613 single base substitution C T missense_variant G339R 1015G>A BLCA-US 10 128192613 128192613 single base substitution C T missense_variant G386R 1156G>A BLCA-US 10 128192613 128192613 single base substitution C T missense_variant G483R 1447G>A BLCA-US 10 128192934 128192934 single base substitution G C downstream_gene_variant BLCA-US 10 128192934 128192934 single base substitution G C exon_variant BLCA-US 10 128192934 128192934 single base substitution G C missense_variant Q232E 694C>G BLCA-US 10 128192934 128192934 single base substitution G C missense_variant Q279E 835C>G BLCA-US 10 128192934 128192934 single base substitution G C missense_variant Q376E 1126C>G BLCA-US 10 128192934 128192934 single base substitution G C upstream_gene_variant BLCA-US 10 128193175 128193175 single base substitution G A downstream_gene_variant BLCA-US 10 128193175 128193175 single base substitution G A exon_variant BLCA-US 10 128193175 128193175 single base substitution G A synonymous_variant F151F 453C>T BLCA-US 10 128193175 128193175 single base substitution G A synonymous_variant F198F 594C>T BLCA-US 10 128193175 128193175 single base substitution G A synonymous_variant F295F 885C>T BLCA-US 10 128193175 128193175 single base substitution G A upstream_gene_variant BLCA-US 10 128193522 128193522 single base substitution G T 3_prime_UTR_variant BLCA-US 10 128193522 128193522 single base substitution G T exon_variant BLCA-US 10 128193522 128193522 single base substitution G T missense_variant H180N 538C>A BLCA-US 10 128193522 128193522 single base substitution G T missense_variant H36N 106C>A BLCA-US 10 128193522 128193522 single base substitution G T missense_variant H83N 247C>A BLCA-US 10 128193522 128193522 single base substitution G T upstream_gene_variant BOCA-FR 10 128127426 128127426 single base substitution C T intron_variant BOCA-FR 10 128167302 128167302 single base substitution C T intron_variant BOCA-FR 10 128323932 128323932 single base substitution C T intron_variant BOCA-FR 10 128351809 128351809 single base substitution T A intron_variant BRCA-EU 10 128109618 128109618 single base substitution G T downstream_gene_variant BRCA-EU 10 128109722 128109722 single base substitution G C downstream_gene_variant BRCA-EU 10 128109833 128109833 single base substitution C T downstream_gene_variant BRCA-EU 10 128110034 128110034 single base substitution C T downstream_gene_variant BRCA-EU 10 128110093 128110093 single base substitution C T downstream_gene_variant BRCA-EU 10 128110609 128110609 single base substitution G T downstream_gene_variant BRCA-EU 10 128111087 128111087 single base substitution C T downstream_gene_variant BRCA-EU 10 128111890 128111890 single base substitution C T downstream_gene_variant BRCA-EU 10 128112330 128112330 single base substitution C G downstream_gene_variant BRCA-EU 10 128113979 128113979 single base substitution C T 3_prime_UTR_variant BRCA-EU 10 128113979 128113979 single base substitution C T downstream_gene_variant BRCA-EU 10 128114125 128114125 single base substitution C A 3_prime_UTR_variant BRCA-EU 10 128114125 128114125 single base substitution C A downstream_gene_variant BRCA-EU 10 128114150 128114150 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 10 128114150 128114150 deletion of <=200bp A - downstream_gene_variant BRCA-EU 10 128114736 128114736 single base substitution C T intron_variant BRCA-EU 10 128116114 128116114 single base substitution C G intron_variant BRCA-EU 10 128118680 128118680 single base substitution C G intron_variant BRCA-EU 10 128119078 128119078 deletion of <=200bp A - intron_variant BRCA-EU 10 128119270 128119270 single base substitution C G intron_variant BRCA-EU 10 128120012 128120012 single base substitution G A intron_variant BRCA-EU 10 128121134 128121134 single base substitution G A intron_variant BRCA-EU 10 128121561 128121561 single base substitution C T intron_variant BRCA-EU 10 128122200 128122200 single base substitution T C intron_variant BRCA-EU 10 128122469 128122469 single base substitution G A intron_variant BRCA-EU 10 128123240 128123240 single base substitution C A intron_variant BRCA-EU 10 128123356 128123356 single base substitution C T intron_variant BRCA-EU 10 128125424 128125424 single base substitution G A intron_variant BRCA-EU 10 128126418 128126418 single base substitution G A intron_variant BRCA-EU 10 128127034 128127034 deletion of <=200bp T - intron_variant BRCA-EU 10 128127633 128127633 single base substitution A G intron_variant BRCA-EU 10 128128562 128128562 single base substitution C G intron_variant BRCA-EU 10 128129906 128129906 deletion of <=200bp C - intron_variant BRCA-EU 10 128130380 128130380 single base substitution G T intron_variant BRCA-EU 10 128131624 128131624 single base substitution A T intron_variant BRCA-EU 10 128133783 128133783 single base substitution C T intron_variant BRCA-EU 10 128133971 128133971 single base substitution C T intron_variant BRCA-EU 10 128134247 128134247 single base substitution G A intron_variant BRCA-EU 10 128134735 128134735 deletion of <=200bp T - intron_variant BRCA-EU 10 128136943 128136943 single base substitution A T intron_variant BRCA-EU 10 128137826 128137826 deletion of <=200bp G - intron_variant BRCA-EU 10 128137877 128137877 single base substitution C A intron_variant BRCA-EU 10 128140956 128140956 deletion of <=200bp T - intron_variant BRCA-EU 10 128141582 128141582 single base substitution C A intron_variant BRCA-EU 10 128142136 128142136 single base substitution G A intron_variant BRCA-EU 10 128142675 128142675 single base substitution A G intron_variant BRCA-EU 10 128143793 128143793 single base substitution C A intron_variant BRCA-EU 10 128143932 128143932 single base substitution G T intron_variant BRCA-EU 10 128144202 128144202 single base substitution G A intron_variant BRCA-EU 10 128144545 128144545 single base substitution C T intron_variant BRCA-EU 10 128147242 128147242 single base substitution C A intron_variant BRCA-EU 10 128148996 128148996 single base substitution C T intron_variant BRCA-EU 10 128149845 128149845 single base substitution C T intron_variant BRCA-EU 10 128150652 128150652 single base substitution G A intron_variant BRCA-EU 10 128150799 128150799 single base substitution C G intron_variant BRCA-EU 10 128152264 128152264 single base substitution A C intron_variant BRCA-EU 10 128152264 128152264 single base substitution A C upstream_gene_variant BRCA-EU 10 128152368 128152368 single base substitution G A intron_variant BRCA-EU 10 128152368 128152368 single base substitution G A upstream_gene_variant BRCA-EU 10 128152848 128152848 single base substitution G A intron_variant BRCA-EU 10 128152848 128152848 single base substitution G A upstream_gene_variant BRCA-EU 10 128153760 128153760 single base substitution T C intron_variant BRCA-EU 10 128153760 128153760 single base substitution T C upstream_gene_variant BRCA-EU 10 128154029 128154029 single base substitution A T intron_variant BRCA-EU 10 128154029 128154029 single base substitution A T upstream_gene_variant BRCA-EU 10 128154756 128154756 single base substitution C T intron_variant BRCA-EU 10 128154756 128154756 single base substitution C T upstream_gene_variant BRCA-EU 10 128155026 128155026 single base substitution A G intron_variant BRCA-EU 10 128155026 128155026 single base substitution A G upstream_gene_variant BRCA-EU 10 128155061 128155061 single base substitution A C intron_variant BRCA-EU 10 128155061 128155061 single base substitution A C upstream_gene_variant BRCA-EU 10 128155617 128155617 single base substitution G T intron_variant BRCA-EU 10 128155617 128155617 single base substitution G T upstream_gene_variant BRCA-EU 10 128156517 128156517 single base substitution C T intron_variant BRCA-EU 10 128156517 128156517 single base substitution C T upstream_gene_variant BRCA-EU 10 128156766 128156766 single base substitution T G intron_variant BRCA-EU 10 128156766 128156766 single base substitution T G upstream_gene_variant BRCA-EU 10 128157868 128157868 single base substitution G C intron_variant BRCA-EU 10 128158258 128158258 single base substitution C G intron_variant BRCA-EU 10 128159057 128159060 deletion of <=200bp GGGA - intron_variant BRCA-EU 10 128159178 128159178 single base substitution G C intron_variant BRCA-EU 10 128159305 128159305 single base substitution C T intron_variant BRCA-EU 10 128160802 128160802 insertion of <=200bp - A intron_variant BRCA-EU 10 128163925 128163925 single base substitution C G intron_variant BRCA-EU 10 128164379 128164379 single base substitution T G intron_variant BRCA-EU 10 128168732 128168732 single base substitution G A intron_variant BRCA-EU 10 128168852 128168852 single base substitution G A intron_variant BRCA-EU 10 128169838 128169838 single base substitution G A intron_variant BRCA-EU 10 128170297 128170297 single base substitution C T intron_variant BRCA-EU 10 128170401 128170401 single base substitution C A intron_variant BRCA-EU 10 128172347 128172347 single base substitution G C intron_variant BRCA-EU 10 128173767 128173767 single base substitution G A intron_variant BRCA-EU 10 128174286 128174286 single base substitution G C intron_variant BRCA-EU 10 128174814 128174814 single base substitution C A intron_variant BRCA-EU 10 128175428 128175428 single base substitution G C intron_variant BRCA-EU 10 128177189 128177189 single base substitution G A intron_variant BRCA-EU 10 128177661 128177661 single base substitution T C intron_variant BRCA-EU 10 128177681 128177681 deletion of <=200bp A - intron_variant BRCA-EU 10 128179354 128179354 single base substitution G A intron_variant BRCA-EU 10 128179921 128179921 single base substitution G A intron_variant BRCA-EU 10 128180357 128180357 single base substitution G A intron_variant BRCA-EU 10 128180468 128180468 single base substitution C A intron_variant BRCA-EU 10 128181198 128181198 single base substitution G A intron_variant BRCA-EU 10 128184979 128184979 single base substitution T C intron_variant BRCA-EU 10 128186142 128186142 single base substitution A T intron_variant BRCA-EU 10 128191705 128191705 single base substitution G C downstream_gene_variant BRCA-EU 10 128191705 128191705 single base substitution G C intron_variant BRCA-EU 10 128191768 128191768 insertion of <=200bp - A downstream_gene_variant BRCA-EU 10 128191768 128191768 insertion of <=200bp - A intron_variant BRCA-EU 10 128191855 128191855 single base substitution G C downstream_gene_variant BRCA-EU 10 128191855 128191855 single base substitution G C intron_variant BRCA-EU 10 128192228 128192228 single base substitution T G downstream_gene_variant BRCA-EU 10 128192228 128192228 single base substitution T G intron_variant BRCA-EU 10 128193186 128193186 single base substitution A G downstream_gene_variant BRCA-EU 10 128193186 128193186 single base substitution A G exon_variant BRCA-EU 10 128193186 128193186 single base substitution A G missense_variant C148R 442T>C BRCA-EU 10 128193186 128193186 single base substitution A G missense_variant C195R 583T>C BRCA-EU 10 128193186 128193186 single base substitution A G missense_variant C292R 874T>C BRCA-EU 10 128193186 128193186 single base substitution A G upstream_gene_variant BRCA-EU 10 128196118 128196118 single base substitution A T intron_variant BRCA-EU 10 128196118 128196118 single base substitution A T upstream_gene_variant BRCA-EU 10 128197260 128197260 single base substitution C T intron_variant BRCA-EU 10 128197260 128197260 single base substitution C T upstream_gene_variant BRCA-EU 10 128197384 128197384 single base substitution C G intron_variant BRCA-EU 10 128197384 128197384 single base substitution C G upstream_gene_variant BRCA-EU 10 128197876 128197876 single base substitution C G intron_variant BRCA-EU 10 128198172 128198172 single base substitution C T intron_variant BRCA-EU 10 128198275 128198275 single base substitution C T intron_variant BRCA-EU 10 128199137 128199137 single base substitution G A intron_variant BRCA-EU 10 128199841 128199841 single base substitution C T intron_variant BRCA-EU 10 128201459 128201459 single base substitution G A intron_variant BRCA-EU 10 128201628 128201628 single base substitution T C intron_variant BRCA-EU 10 128202963 128202963 single base substitution A G intron_variant BRCA-EU 10 128205251 128205251 single base substitution C A intron_variant BRCA-EU 10 128206393 128206393 single base substitution C G intron_variant BRCA-EU 10 128206968 128206968 single base substitution G A intron_variant BRCA-EU 10 128207550 128207550 single base substitution G A intron_variant BRCA-EU 10 128207742 128207742 single base substitution G C intron_variant BRCA-EU 10 128207959 128207959 single base substitution T G intron_variant BRCA-EU 10 128207960 128207960 single base substitution C A intron_variant BRCA-EU 10 128207991 128207991 single base substitution G T intron_variant BRCA-EU 10 128208311 128208311 single base substitution C T intron_variant BRCA-EU 10 128208312 128208312 single base substitution C T intron_variant BRCA-EU 10 128208473 128208473 single base substitution C T intron_variant BRCA-EU 10 128209135 128209135 single base substitution C T 5_prime_UTR_variant BRCA-EU 10 128209135 128209135 single base substitution C T intron_variant BRCA-EU 10 128209157 128209157 single base substitution G T 5_prime_UTR_variant BRCA-EU 10 128209157 128209157 single base substitution G T intron_variant BRCA-EU 10 128209932 128209932 single base substitution T A 5_prime_UTR_variant BRCA-EU 10 128209932 128209932 single base substitution T A intron_variant BRCA-EU 10 128209932 128209932 single base substitution T A upstream_gene_variant BRCA-EU 10 128210602 128210602 single base substitution C T intron_variant BRCA-EU 10 128210602 128210602 single base substitution C T upstream_gene_variant BRCA-EU 10 128211423 128211423 single base substitution C T exon_variant BRCA-EU 10 128211423 128211423 single base substitution C T intron_variant BRCA-EU 10 128211423 128211423 single base substitution C T upstream_gene_variant BRCA-EU 10 128213336 128213336 single base substitution C T exon_variant BRCA-EU 10 128213336 128213336 single base substitution C T intron_variant BRCA-EU 10 128213336 128213336 single base substitution C T upstream_gene_variant BRCA-EU 10 128213835 128213835 single base substitution C A intron_variant BRCA-EU 10 128213835 128213835 single base substitution C A upstream_gene_variant BRCA-EU 10 128213921 128213921 single base substitution G C intron_variant BRCA-EU 10 128213921 128213921 single base substitution G C upstream_gene_variant BRCA-EU 10 128215698 128215698 single base substitution G C intron_variant BRCA-EU 10 128215698 128215698 single base substitution G C upstream_gene_variant BRCA-EU 10 128215845 128215845 single base substitution C T intron_variant BRCA-EU 10 128215845 128215845 single base substitution C T upstream_gene_variant BRCA-EU 10 128216020 128216020 single base substitution C T intron_variant BRCA-EU 10 128216020 128216020 single base substitution C T upstream_gene_variant BRCA-EU 10 128216384 128216384 single base substitution T C intron_variant BRCA-EU 10 128216384 128216384 single base substitution T C upstream_gene_variant BRCA-EU 10 128217761 128217761 single base substitution T C intron_variant BRCA-EU 10 128217761 128217761 single base substitution T C upstream_gene_variant BRCA-EU 10 128218772 128218772 single base substitution C T intron_variant BRCA-EU 10 128218892 128218892 single base substitution C T intron_variant BRCA-EU 10 128219069 128219069 insertion of <=200bp - A intron_variant BRCA-EU 10 128219159 128219159 single base substitution C T intron_variant BRCA-EU 10 128221222 128221222 single base substitution C T intron_variant BRCA-EU 10 128221385 128221385 single base substitution C A intron_variant BRCA-EU 10 128222177 128222177 deletion of <=200bp C - intron_variant BRCA-EU 10 128222569 128222569 single base substitution G C intron_variant BRCA-EU 10 128223167 128223167 single base substitution C G intron_variant BRCA-EU 10 128223824 128223824 single base substitution C T intron_variant BRCA-EU 10 128224399 128224399 single base substitution G C intron_variant BRCA-EU 10 128224626 128224626 single base substitution A G intron_variant BRCA-EU 10 128226647 128226647 single base substitution G C intron_variant BRCA-EU 10 128226649 128226649 single base substitution G T intron_variant BRCA-EU 10 128227368 128227368 single base substitution C G intron_variant BRCA-EU 10 128227670 128227670 single base substitution C T intron_variant BRCA-EU 10 128227741 128227741 single base substitution C T intron_variant BRCA-EU 10 128227816 128227816 single base substitution C T intron_variant BRCA-EU 10 128228191 128228191 deletion of <=200bp A - intron_variant BRCA-EU 10 128228684 128228684 single base substitution G T intron_variant BRCA-EU 10 128229824 128229824 single base substitution G C intron_variant BRCA-EU 10 128229907 128229907 single base substitution T A intron_variant BRCA-EU 10 128230045 128230045 single base substitution T C intron_variant BRCA-EU 10 128231747 128231747 single base substitution C A intron_variant BRCA-EU 10 128232956 128232956 single base substitution G A intron_variant BRCA-EU 10 128233600 128233600 single base substitution G T intron_variant BRCA-EU 10 128235374 128235374 single base substitution A T intron_variant BRCA-EU 10 128235480 128235480 single base substitution C T intron_variant BRCA-EU 10 128236449 128236449 deletion of <=200bp G - intron_variant BRCA-EU 10 128238087 128238087 single base substitution T C intron_variant BRCA-EU 10 128240099 128240099 deletion of <=200bp A - intron_variant BRCA-EU 10 128240225 128240225 single base substitution C T intron_variant BRCA-EU 10 128241131 128241131 single base substitution C A intron_variant BRCA-EU 10 128242123 128242123 single base substitution A G intron_variant BRCA-EU 10 128242491 128242491 single base substitution C T intron_variant BRCA-EU 10 128242566 128242566 single base substitution C A intron_variant BRCA-EU 10 128243393 128243393 single base substitution G C intron_variant BRCA-EU 10 128243543 128243543 single base substitution C G intron_variant BRCA-EU 10 128244820 128244820 single base substitution G A intron_variant BRCA-EU 10 128245916 128245916 single base substitution G T intron_variant BRCA-EU 10 128246515 128246515 single base substitution C T intron_variant BRCA-EU 10 128247892 128247892 single base substitution C A intron_variant BRCA-EU 10 128248028 128248028 single base substitution A G intron_variant BRCA-EU 10 128248077 128248077 single base substitution G C intron_variant BRCA-EU 10 128248227 128248227 single base substitution G A intron_variant BRCA-EU 10 128249002 128249002 single base substitution G A intron_variant BRCA-EU 10 128249216 128249216 single base substitution G C intron_variant BRCA-EU 10 128249984 128249984 single base substitution G C intron_variant BRCA-EU 10 128251106 128251106 single base substitution A C intron_variant BRCA-EU 10 128251158 128251158 single base substitution A T intron_variant BRCA-EU 10 128251450 128251450 single base substitution G A intron_variant BRCA-EU 10 128251883 128251883 single base substitution G C intron_variant BRCA-EU 10 128252118 128252118 single base substitution A C intron_variant BRCA-EU 10 128253093 128253093 single base substitution G A intron_variant BRCA-EU 10 128254173 128254173 single base substitution C G intron_variant BRCA-EU 10 128254232 128254232 single base substitution G A intron_variant BRCA-EU 10 128254557 128254557 single base substitution T A intron_variant BRCA-EU 10 128254973 128254973 single base substitution C G intron_variant BRCA-EU 10 128255976 128255976 single base substitution C T intron_variant BRCA-EU 10 128257979 128257979 single base substitution G A intron_variant BRCA-EU 10 128258923 128258923 single base substitution C T intron_variant BRCA-EU 10 128259129 128259129 single base substitution G C intron_variant BRCA-EU 10 128259969 128259969 single base substitution G A intron_variant BRCA-EU 10 128261419 128261419 single base substitution G A intron_variant BRCA-EU 10 128261522 128261522 single base substitution C A intron_variant BRCA-EU 10 128262891 128262891 single base substitution A G intron_variant BRCA-EU 10 128263830 128263830 single base substitution C G intron_variant BRCA-EU 10 128264145 128264145 single base substitution T A intron_variant BRCA-EU 10 128265065 128265065 single base substitution C T intron_variant BRCA-EU 10 128265794 128265794 single base substitution G A intron_variant BRCA-EU 10 128267594 128267594 single base substitution G T intron_variant BRCA-EU 10 128268166 128268166 single base substitution C T intron_variant BRCA-EU 10 128268209 128268209 single base substitution C G intron_variant BRCA-EU 10 128269262 128269262 single base substitution C G intron_variant BRCA-EU 10 128270373 128270373 single base substitution A G intron_variant BRCA-EU 10 128273347 128273347 single base substitution A C intron_variant BRCA-EU 10 128273918 128273918 single base substitution G T intron_variant BRCA-EU 10 128274485 128274485 single base substitution A T intron_variant BRCA-EU 10 128275026 128275026 single base substitution C T intron_variant BRCA-EU 10 128275107 128275107 single base substitution C T intron_variant BRCA-EU 10 128276057 128276057 single base substitution C G intron_variant BRCA-EU 10 128276562 128276562 deletion of <=200bp C - intron_variant BRCA-EU 10 128276571 128276571 single base substitution T C intron_variant BRCA-EU 10 128277273 128277273 single base substitution C T intron_variant BRCA-EU 10 128277318 128277318 single base substitution G C intron_variant BRCA-EU 10 128277339 128277339 single base substitution G A intron_variant BRCA-EU 10 128278495 128278495 single base substitution C G intron_variant BRCA-EU 10 128279830 128279830 single base substitution C A intron_variant BRCA-EU 10 128280414 128280414 single base substitution C T intron_variant BRCA-EU 10 128280615 128280615 single base substitution G C intron_variant BRCA-EU 10 128281199 128281199 single base substitution A T intron_variant BRCA-EU 10 128281422 128281422 single base substitution A T intron_variant BRCA-EU 10 128282642 128282642 single base substitution T G intron_variant BRCA-EU 10 128284314 128284314 single base substitution G C intron_variant BRCA-EU 10 128284479 128284479 deletion of <=200bp A - intron_variant BRCA-EU 10 128288923 128288923 single base substitution C A intron_variant BRCA-EU 10 128289299 128289300 deletion of <=200bp GT - intron_variant BRCA-EU 10 128289985 128289985 single base substitution A G intron_variant BRCA-EU 10 128290616 128290616 single base substitution C T intron_variant BRCA-EU 10 128291716 128291716 single base substitution C T intron_variant BRCA-EU 10 128292659 128292659 single base substitution C G intron_variant BRCA-EU 10 128292716 128292716 single base substitution G A intron_variant BRCA-EU 10 128292979 128292979 single base substitution A G intron_variant BRCA-EU 10 128293911 128293911 single base substitution A T intron_variant BRCA-EU 10 128294756 128294756 single base substitution C T intron_variant BRCA-EU 10 128295543 128295543 single base substitution C T intron_variant BRCA-EU 10 128296706 128296706 single base substitution C A intron_variant BRCA-EU 10 128299253 128299253 single base substitution A T intron_variant BRCA-EU 10 128300841 128300841 single base substitution G T intron_variant BRCA-EU 10 128301774 128301774 single base substitution G A intron_variant BRCA-EU 10 128303324 128303324 single base substitution G A intron_variant BRCA-EU 10 128304877 128304877 single base substitution G A intron_variant BRCA-EU 10 128304962 128304962 single base substitution A C intron_variant BRCA-EU 10 128305935 128305935 single base substitution C A intron_variant BRCA-EU 10 128306600 128306600 single base substitution C T intron_variant BRCA-EU 10 128306710 128306710 single base substitution T G intron_variant BRCA-EU 10 128306931 128306931 single base substitution G C intron_variant BRCA-EU 10 128307091 128307091 single base substitution C T intron_variant BRCA-EU 10 128308836 128308836 single base substitution C G intron_variant BRCA-EU 10 128310195 128310195 single base substitution G A intron_variant BRCA-EU 10 128310679 128310679 single base substitution G C intron_variant BRCA-EU 10 128311977 128311977 single base substitution G C intron_variant BRCA-EU 10 128312629 128312629 single base substitution A C intron_variant BRCA-EU 10 128312765 128312765 single base substitution A C intron_variant BRCA-EU 10 128313021 128313021 single base substitution G C intron_variant BRCA-EU 10 128313024 128313024 single base substitution G C intron_variant BRCA-EU 10 128313840 128313840 single base substitution T C intron_variant BRCA-EU 10 128315401 128315401 single base substitution G T intron_variant BRCA-EU 10 128315735 128315735 single base substitution A C intron_variant BRCA-EU 10 128317526 128317526 single base substitution C A intron_variant BRCA-EU 10 128317707 128317707 deletion of <=200bp T - intron_variant BRCA-EU 10 128318400 128318400 single base substitution G A intron_variant BRCA-EU 10 128318881 128318881 single base substitution G A intron_variant BRCA-EU 10 128318960 128318960 single base substitution G C intron_variant BRCA-EU 10 128319146 128319146 single base substitution C G intron_variant BRCA-EU 10 128320418 128320418 single base substitution A G intron_variant BRCA-EU 10 128320478 128320478 single base substitution G A intron_variant BRCA-EU 10 128320722 128320722 single base substitution G A intron_variant BRCA-EU 10 128321247 128321247 single base substitution T C intron_variant BRCA-EU 10 128321653 128321653 single base substitution C T intron_variant BRCA-EU 10 128321734 128321734 single base substitution G A intron_variant BRCA-EU 10 128322318 128322318 single base substitution C A intron_variant BRCA-EU 10 128323161 128323161 deletion of <=200bp A - intron_variant BRCA-EU 10 128323674 128323674 single base substitution T C intron_variant BRCA-EU 10 128323782 128323782 single base substitution G C intron_variant BRCA-EU 10 128325073 128325073 single base substitution A G intron_variant BRCA-EU 10 128325801 128325801 single base substitution G A intron_variant BRCA-EU 10 128326300 128326300 single base substitution G C intron_variant BRCA-EU 10 128327755 128327755 single base substitution T C intron_variant BRCA-EU 10 128327872 128327872 single base substitution C A intron_variant BRCA-EU 10 128328831 128328831 single base substitution G T intron_variant BRCA-EU 10 128330040 128330040 single base substitution G A intron_variant BRCA-EU 10 128332467 128332467 single base substitution G C intron_variant BRCA-EU 10 128333301 128333301 single base substitution A G intron_variant BRCA-EU 10 128333705 128333705 single base substitution A T intron_variant BRCA-EU 10 128334443 128334443 single base substitution C G intron_variant BRCA-EU 10 128335065 128335065 insertion of <=200bp - AG intron_variant BRCA-EU 10 128335065 128335066 deletion of <=200bp AG - intron_variant BRCA-EU 10 128335066 128335066 single base substitution G C intron_variant BRCA-EU 10 128336006 128336006 single base substitution G T intron_variant BRCA-EU 10 128337337 128337361 deletion of <=200bp TGGAAATTTTAAGCTTCTTCTCTCC - intron_variant BRCA-EU 10 128339247 128339247 single base substitution C T intron_variant BRCA-EU 10 128341151 128341151 single base substitution G C intron_variant BRCA-EU 10 128341152 128341152 single base substitution C A intron_variant BRCA-EU 10 128341803 128341803 single base substitution G T intron_variant BRCA-EU 10 128341807 128341807 single base substitution C T intron_variant BRCA-EU 10 128341865 128341865 single base substitution G A intron_variant BRCA-EU 10 128342540 128342540 insertion of <=200bp - T intron_variant BRCA-EU 10 128343650 128343650 single base substitution G A intron_variant BRCA-EU 10 128344492 128344492 single base substitution G A intron_variant BRCA-EU 10 128347864 128347864 single base substitution T G intron_variant BRCA-EU 10 128349122 128349122 single base substitution G A intron_variant BRCA-EU 10 128349944 128349944 single base substitution T A intron_variant BRCA-EU 10 128351556 128351556 single base substitution G A intron_variant BRCA-EU 10 128351764 128351764 single base substitution C T intron_variant BRCA-EU 10 128353891 128353891 deletion of <=200bp A - intron_variant BRCA-EU 10 128354572 128354572 single base substitution A G intron_variant BRCA-EU 10 128354870 128354870 single base substitution C A intron_variant BRCA-EU 10 128356216 128356216 single base substitution T C intron_variant BRCA-EU 10 128358027 128358027 single base substitution A T intron_variant BRCA-EU 10 128358572 128358572 single base substitution C T intron_variant BRCA-EU 10 128358759 128358759 single base substitution C G intron_variant BRCA-EU 10 128359963 128359963 single base substitution G A upstream_gene_variant BRCA-EU 10 128360809 128360809 single base substitution G A upstream_gene_variant BRCA-EU 10 128362491 128362491 single base substitution A G upstream_gene_variant BRCA-EU 10 128362619 128362619 single base substitution T G upstream_gene_variant BRCA-EU 10 128363531 128363531 single base substitution G T upstream_gene_variant BRCA-FR 10 128110034 128110034 single base substitution C T downstream_gene_variant BRCA-FR 10 128116114 128116114 single base substitution C G intron_variant BRCA-FR 10 128120649 128120649 single base substitution T A intron_variant BRCA-FR 10 128127076 128127076 single base substitution G A intron_variant BRCA-FR 10 128127133 128127133 single base substitution G T intron_variant BRCA-FR 10 128127379 128127379 single base substitution C G intron_variant BRCA-FR 10 128133783 128133783 single base substitution C T intron_variant BRCA-FR 10 128146136 128146136 single base substitution G T intron_variant BRCA-FR 10 128147710 128147710 single base substitution T C missense_variant Q141R 422A>G BRCA-FR 10 128147710 128147710 single base substitution T C missense_variant Q3R 8A>G BRCA-FR 10 128147710 128147710 single base substitution T C missense_variant Q502R 1505A>G BRCA-FR 10 128147710 128147710 single base substitution T C missense_variant Q552R 1655A>G BRCA-FR 10 128147710 128147710 single base substitution T C missense_variant Q599R 1796A>G BRCA-FR 10 128147710 128147710 single base substitution T C missense_variant Q696R 2087A>G BRCA-FR 10 128156517 128156517 single base substitution C T intron_variant BRCA-FR 10 128156517 128156517 single base substitution C T upstream_gene_variant BRCA-FR 10 128156863 128156863 single base substitution C T intron_variant BRCA-FR 10 128156863 128156863 single base substitution C T upstream_gene_variant BRCA-FR 10 128158258 128158258 single base substitution C G intron_variant BRCA-FR 10 128162871 128162871 single base substitution A T intron_variant BRCA-FR 10 128168852 128168852 single base substitution G A intron_variant BRCA-FR 10 128175428 128175428 single base substitution G C intron_variant BRCA-FR 10 128177189 128177189 single base substitution G A intron_variant BRCA-FR 10 128180357 128180357 single base substitution G A intron_variant BRCA-FR 10 128180468 128180468 single base substitution C A intron_variant BRCA-FR 10 128192228 128192228 single base substitution T G downstream_gene_variant BRCA-FR 10 128192228 128192228 single base substitution T G intron_variant BRCA-FR 10 128197876 128197876 single base substitution C G intron_variant BRCA-FR 10 128201384 128201384 single base substitution G T intron_variant BRCA-FR 10 128207959 128207959 single base substitution T G intron_variant BRCA-FR 10 128207960 128207960 single base substitution C A intron_variant BRCA-FR 10 128211798 128211798 single base substitution C A intron_variant BRCA-FR 10 128211798 128211798 single base substitution C A upstream_gene_variant BRCA-FR 10 128214901 128214901 single base substitution C T intron_variant BRCA-FR 10 128214901 128214901 single base substitution C T upstream_gene_variant BRCA-FR 10 128224626 128224626 single base substitution A G intron_variant BRCA-FR 10 128226647 128226647 single base substitution G C intron_variant BRCA-FR 10 128227368 128227368 single base substitution C G intron_variant BRCA-FR 10 128231747 128231747 single base substitution C A intron_variant BRCA-FR 10 128235374 128235374 single base substitution A T intron_variant BRCA-FR 10 128239235 128239235 single base substitution C T intron_variant BRCA-FR 10 128248640 128248640 single base substitution C T intron_variant BRCA-FR 10 128249002 128249002 single base substitution G A intron_variant BRCA-FR 10 128249963 128249963 single base substitution G A intron_variant BRCA-FR 10 128254173 128254173 single base substitution C G intron_variant BRCA-FR 10 128261522 128261522 single base substitution C A intron_variant BRCA-FR 10 128268209 128268209 single base substitution C G intron_variant BRCA-FR 10 128272693 128272693 single base substitution G C intron_variant BRCA-FR 10 128283730 128283730 single base substitution C T intron_variant BRCA-FR 10 128299088 128299088 single base substitution C A intron_variant BRCA-FR 10 128301774 128301774 single base substitution G A intron_variant BRCA-FR 10 128306931 128306931 single base substitution G C intron_variant BRCA-FR 10 128307686 128307686 single base substitution G A intron_variant BRCA-FR 10 128307757 128307757 single base substitution C A intron_variant BRCA-FR 10 128308312 128308312 single base substitution G T intron_variant BRCA-FR 10 128310195 128310195 single base substitution G A intron_variant BRCA-FR 10 128312864 128312864 single base substitution G A intron_variant BRCA-FR 10 128317526 128317526 single base substitution C A intron_variant BRCA-FR 10 128320418 128320418 single base substitution A G intron_variant BRCA-FR 10 128320478 128320478 single base substitution G A intron_variant BRCA-FR 10 128321653 128321653 single base substitution C T intron_variant BRCA-FR 10 128325756 128325756 single base substitution G T intron_variant BRCA-FR 10 128325801 128325801 single base substitution G A intron_variant BRCA-FR 10 128328831 128328831 single base substitution G T intron_variant BRCA-FR 10 128331307 128331307 single base substitution G A intron_variant BRCA-FR 10 128341807 128341807 single base substitution C T intron_variant BRCA-FR 10 128351764 128351764 single base substitution C T intron_variant BRCA-FR 10 128360809 128360809 single base substitution G A upstream_gene_variant BRCA-FR 10 128362200 128362200 single base substitution C A upstream_gene_variant BRCA-FR 10 128362619 128362619 single base substitution T G upstream_gene_variant BRCA-UK 10 128121242 128121242 single base substitution C T intron_variant BRCA-UK 10 128122200 128122200 single base substitution T C intron_variant BRCA-UK 10 128122469 128122469 single base substitution G A intron_variant BRCA-UK 10 128128562 128128562 single base substitution C G intron_variant BRCA-UK 10 128147894 128147894 single base substitution C A intron_variant BRCA-UK 10 128153371 128153371 single base substitution G A intron_variant BRCA-UK 10 128153371 128153371 single base substitution G A synonymous_variant F429F 1287C>T BRCA-UK 10 128153371 128153371 single base substitution G A synonymous_variant F476F 1428C>T BRCA-UK 10 128153371 128153371 single base substitution G A synonymous_variant F573F 1719C>T BRCA-UK 10 128153371 128153371 single base substitution G A upstream_gene_variant BRCA-UK 10 128209157 128209157 single base substitution G T 5_prime_UTR_variant BRCA-UK 10 128209157 128209157 single base substitution G T intron_variant BRCA-UK 10 128249216 128249216 single base substitution G C intron_variant BRCA-UK 10 128262531 128262531 single base substitution C T intron_variant BRCA-UK 10 128289240 128289240 single base substitution G A intron_variant BRCA-UK 10 128291855 128291855 single base substitution C T intron_variant BRCA-UK 10 128305935 128305935 single base substitution C A intron_variant BRCA-UK 10 128321516 128321516 single base substitution G T intron_variant BRCA-UK 10 128324036 128324036 single base substitution G A intron_variant BRCA-UK 10 128340797 128340797 single base substitution C T intron_variant BRCA-UK 10 128359963 128359963 single base substitution G A upstream_gene_variant BRCA-US 10 128192743 128192743 single base substitution A C downstream_gene_variant BRCA-US 10 128192743 128192743 single base substitution A C exon_variant BRCA-US 10 128192743 128192743 single base substitution A C missense_variant S295R 885T>G BRCA-US 10 128192743 128192743 single base substitution A C missense_variant S342R 1026T>G BRCA-US 10 128192743 128192743 single base substitution A C missense_variant S439R 1317T>G BRCA-US 10 128192743 128192743 single base substitution A C upstream_gene_variant BRCA-US 10 128193182 128193182 single base substitution G A downstream_gene_variant BRCA-US 10 128193182 128193182 single base substitution G A exon_variant BRCA-US 10 128193182 128193182 single base substitution G A missense_variant T149I 446C>T BRCA-US 10 128193182 128193182 single base substitution G A missense_variant T196I 587C>T BRCA-US 10 128193182 128193182 single base substitution G A missense_variant T293I 878C>T BRCA-US 10 128193182 128193182 single base substitution G A upstream_gene_variant BRCA-US 10 128193497 128193497 single base substitution C T 3_prime_UTR_variant BRCA-US 10 128193497 128193497 single base substitution C T exon_variant BRCA-US 10 128193497 128193497 single base substitution C T missense_variant R188H 563G>A BRCA-US 10 128193497 128193497 single base substitution C T missense_variant R44H 131G>A BRCA-US 10 128193497 128193497 single base substitution C T missense_variant R91H 272G>A BRCA-US 10 128193497 128193497 single base substitution C T upstream_gene_variant BTCA-JP 10 128114439 128114439 single base substitution C T 3_prime_UTR_variant BTCA-JP 10 128114439 128114439 single base substitution C T downstream_gene_variant BTCA-JP 10 128114439 128114439 single base substitution C T synonymous_variant A102A 306G>A BTCA-JP 10 128114439 128114439 single base substitution C T synonymous_variant A240A 720G>A BTCA-JP 10 128114439 128114439 single base substitution C T synonymous_variant A601A 1803G>A BTCA-JP 10 128114439 128114439 single base substitution C T synonymous_variant A698A 2094G>A BTCA-JP 10 128114439 128114439 single base substitution C T synonymous_variant A795A 2385G>A BTCA-JP 10 128147736 128147736 single base substitution C T 5_prime_UTR_variant BTCA-JP 10 128147736 128147736 single base substitution C T synonymous_variant R132R 396G>A BTCA-JP 10 128147736 128147736 single base substitution C T synonymous_variant R493R 1479G>A BTCA-JP 10 128147736 128147736 single base substitution C T synonymous_variant R543R 1629G>A BTCA-JP 10 128147736 128147736 single base substitution C T synonymous_variant R590R 1770G>A BTCA-JP 10 128147736 128147736 single base substitution C T synonymous_variant R687R 2061G>A BTCA-JP 10 128147923 128147923 single base substitution G A intron_variant BTCA-JP 10 128158307 128158307 single base substitution C T intron_variant BTCA-JP 10 128158659 128158659 deletion of <=200bp G - intron_variant BTCA-JP 10 128192619 128192619 single base substitution T G downstream_gene_variant BTCA-JP 10 128192619 128192619 single base substitution T G exon_variant BTCA-JP 10 128192619 128192619 single base substitution T G synonymous_variant R23R 67A>C BTCA-JP 10 128192619 128192619 single base substitution T G synonymous_variant R337R 1009A>C BTCA-JP 10 128192619 128192619 single base substitution T G synonymous_variant R384R 1150A>C BTCA-JP 10 128192619 128192619 single base substitution T G synonymous_variant R481R 1441A>C BTCA-JP 10 128202361 128202361 single base substitution A G intron_variant BTCA-JP 10 128358967 128358967 single base substitution A G 5_prime_UTR_variant BTCA-JP 10 128358967 128358967 single base substitution A G missense_variant F28S 83T>C BTCA-JP 10 128359030 128359030 single base substitution G T missense_variant P7H 20C>A BTCA-JP 10 128359030 128359030 single base substitution G T upstream_gene_variant CESC-US 10 128193393 128193393 single base substitution C G downstream_gene_variant CESC-US 10 128193393 128193393 single base substitution C G exon_variant CESC-US 10 128193393 128193393 single base substitution C G missense_variant E126Q 376G>C CESC-US 10 128193393 128193393 single base substitution C G missense_variant E223Q 667G>C CESC-US 10 128193393 128193393 single base substitution C G missense_variant E79Q 235G>C CESC-US 10 128193393 128193393 single base substitution C G upstream_gene_variant CESC-US 10 128335207 128335207 single base substitution C G splice_acceptor_variant CLLE-ES 10 128112131 128112131 single base substitution C T downstream_gene_variant CLLE-ES 10 128114543 128114543 single base substitution G C downstream_gene_variant CLLE-ES 10 128114543 128114543 single base substitution G C intron_variant CLLE-ES 10 128114543 128114543 single base substitution G C missense_variant P646R 1937C>G CLLE-ES 10 128115524 128115524 single base substitution C T intron_variant CLLE-ES 10 128121033 128121033 single base substitution G T intron_variant CLLE-ES 10 128122555 128122555 single base substitution C T intron_variant CLLE-ES 10 128133074 128133074 single base substitution C T intron_variant CLLE-ES 10 128134247 128134247 single base substitution G T intron_variant CLLE-ES 10 128143444 128143444 single base substitution G T intron_variant CLLE-ES 10 128144873 128144873 single base substitution T G intron_variant CLLE-ES 10 128151178 128151178 single base substitution C T intron_variant CLLE-ES 10 128153255 128153255 single base substitution C T intron_variant CLLE-ES 10 128153255 128153255 single base substitution C T upstream_gene_variant CLLE-ES 10 128157138 128157138 single base substitution C T intron_variant CLLE-ES 10 128162388 128162388 single base substitution G T intron_variant CLLE-ES 10 128165253 128165253 single base substitution C T intron_variant CLLE-ES 10 128165607 128165607 insertion of <=200bp - CA intron_variant CLLE-ES 10 128166714 128166714 single base substitution A G intron_variant CLLE-ES 10 128172591 128172591 single base substitution T A intron_variant CLLE-ES 10 128182490 128182491 deletion of <=200bp AT - intron_variant CLLE-ES 10 128190659 128190659 insertion of <=200bp - A downstream_gene_variant CLLE-ES 10 128190659 128190659 insertion of <=200bp - A intron_variant CLLE-ES 10 128194155 128194155 single base substitution G A intron_variant CLLE-ES 10 128194155 128194155 single base substitution G A upstream_gene_variant CLLE-ES 10 128199640 128199640 single base substitution C A intron_variant CLLE-ES 10 128200098 128200098 single base substitution C A intron_variant CLLE-ES 10 128200931 128200931 single base substitution G A intron_variant CLLE-ES 10 128200981 128200981 single base substitution C G intron_variant CLLE-ES 10 128207246 128207246 single base substitution G T intron_variant CLLE-ES 10 128209149 128209149 single base substitution C T 5_prime_UTR_variant CLLE-ES 10 128209149 128209149 single base substitution C T intron_variant CLLE-ES 10 128210495 128210495 single base substitution A G intron_variant CLLE-ES 10 128210495 128210495 single base substitution A G upstream_gene_variant CLLE-ES 10 128221834 128221834 single base substitution C A intron_variant CLLE-ES 10 128224638 128224638 single base substitution C T intron_variant CLLE-ES 10 128226502 128226502 single base substitution C G intron_variant CLLE-ES 10 128239700 128239700 single base substitution C T intron_variant CLLE-ES 10 128241271 128241271 single base substitution C T intron_variant CLLE-ES 10 128246549 128246549 single base substitution T C intron_variant CLLE-ES 10 128252601 128252601 single base substitution A C intron_variant CLLE-ES 10 128253933 128253933 single base substitution T A intron_variant CLLE-ES 10 128255960 128255960 single base substitution A G intron_variant CLLE-ES 10 128258515 128258515 single base substitution T C intron_variant CLLE-ES 10 128265265 128265265 single base substitution T C intron_variant CLLE-ES 10 128266226 128266226 single base substitution A G intron_variant CLLE-ES 10 128273904 128273904 single base substitution G C intron_variant CLLE-ES 10 128281362 128281362 single base substitution A G intron_variant CLLE-ES 10 128282349 128282349 single base substitution A G intron_variant CLLE-ES 10 128282855 128282855 single base substitution T C intron_variant CLLE-ES 10 128292364 128292364 single base substitution G A intron_variant CLLE-ES 10 128297895 128297895 single base substitution C T intron_variant CLLE-ES 10 128298338 128298338 single base substitution C A intron_variant CLLE-ES 10 128304625 128304625 single base substitution C T intron_variant CLLE-ES 10 128305461 128305461 single base substitution C T intron_variant CLLE-ES 10 128309383 128309383 single base substitution G A intron_variant CLLE-ES 10 128321938 128321938 single base substitution G T intron_variant CLLE-ES 10 128323506 128323506 single base substitution C T intron_variant CLLE-ES 10 128325379 128325379 single base substitution A T intron_variant CLLE-ES 10 128328306 128328306 single base substitution C T intron_variant CLLE-ES 10 128328884 128328884 single base substitution A T intron_variant CLLE-ES 10 128330047 128330047 single base substitution G A intron_variant CLLE-ES 10 128339681 128339681 single base substitution C A intron_variant CLLE-ES 10 128342342 128342342 single base substitution T C intron_variant CLLE-ES 10 128349707 128349707 single base substitution A G intron_variant CLLE-ES 10 128351707 128351707 single base substitution G T intron_variant CLLE-ES 10 128356636 128356636 single base substitution C T intron_variant CLLE-ES 10 128361788 128361788 single base substitution C A upstream_gene_variant COAD-US 10 128118365 128118365 single base substitution C T missense_variant R193Q 578G>A COAD-US 10 128118365 128118365 single base substitution C T missense_variant R554Q 1661G>A COAD-US 10 128118365 128118365 single base substitution C T missense_variant R55Q 164G>A COAD-US 10 128118365 128118365 single base substitution C T missense_variant R604Q 1811G>A COAD-US 10 128118365 128118365 single base substitution C T missense_variant R651Q 1952G>A COAD-US 10 128118365 128118365 single base substitution C T missense_variant R748Q 2243G>A COAD-US 10 128147752 128147752 single base substitution G T 5_prime_UTR_variant COAD-US 10 128147752 128147752 single base substitution G T missense_variant S127Y 380C>A COAD-US 10 128147752 128147752 single base substitution G T missense_variant S488Y 1463C>A COAD-US 10 128147752 128147752 single base substitution G T missense_variant S538Y 1613C>A COAD-US 10 128147752 128147752 single base substitution G T missense_variant S585Y 1754C>A COAD-US 10 128147752 128147752 single base substitution G T missense_variant S682Y 2045C>A COAD-US 10 128147770 128147770 single base substitution C T 5_prime_UTR_variant COAD-US 10 128147770 128147770 single base substitution C T missense_variant R121H 362G>A COAD-US 10 128147770 128147770 single base substitution C T missense_variant R482H 1445G>A COAD-US 10 128147770 128147770 single base substitution C T missense_variant R532H 1595G>A COAD-US 10 128147770 128147770 single base substitution C T missense_variant R579H 1736G>A COAD-US 10 128147770 128147770 single base substitution C T missense_variant R676H 2027G>A COAD-US 10 128147775 128147775 single base substitution T G 5_prime_UTR_variant COAD-US 10 128147775 128147775 single base substitution T G missense_variant E119D 357A>C COAD-US 10 128147775 128147775 single base substitution T G missense_variant E480D 1440A>C COAD-US 10 128147775 128147775 single base substitution T G missense_variant E530D 1590A>C COAD-US 10 128147775 128147775 single base substitution T G missense_variant E577D 1731A>C COAD-US 10 128147775 128147775 single base substitution T G missense_variant E674D 2022A>C COAD-US 10 128150014 128150014 single base substitution A G 5_prime_UTR_variant COAD-US 10 128150014 128150014 single base substitution A G missense_variant C101R 301T>C COAD-US 10 128150014 128150014 single base substitution A G missense_variant C462R 1384T>C COAD-US 10 128150014 128150014 single base substitution A G missense_variant C512R 1534T>C COAD-US 10 128150014 128150014 single base substitution A G missense_variant C559R 1675T>C COAD-US 10 128150014 128150014 single base substitution A G missense_variant C656R 1966T>C COAD-US 10 128150152 128150152 single base substitution C A missense_variant D416Y 1246G>T COAD-US 10 128150152 128150152 single base substitution C A missense_variant D466Y 1396G>T COAD-US 10 128150152 128150152 single base substitution C A missense_variant D513Y 1537G>T COAD-US 10 128150152 128150152 single base substitution C A missense_variant D55Y 163G>T COAD-US 10 128150152 128150152 single base substitution C A missense_variant D610Y 1828G>T COAD-US 10 128150152 128150152 single base substitution C A splice_region_variant COAD-US 10 128192985 128192985 single base substitution C T downstream_gene_variant COAD-US 10 128192985 128192985 single base substitution C T exon_variant COAD-US 10 128192985 128192985 single base substitution C T missense_variant D215N 643G>A COAD-US 10 128192985 128192985 single base substitution C T missense_variant D262N 784G>A COAD-US 10 128192985 128192985 single base substitution C T missense_variant D359N 1075G>A COAD-US 10 128192985 128192985 single base substitution C T upstream_gene_variant COAD-US 10 128193011 128193011 single base substitution T A downstream_gene_variant COAD-US 10 128193011 128193011 single base substitution T A exon_variant COAD-US 10 128193011 128193011 single base substitution T A missense_variant H206L 617A>T COAD-US 10 128193011 128193011 single base substitution T A missense_variant H253L 758A>T COAD-US 10 128193011 128193011 single base substitution T A missense_variant H350L 1049A>T COAD-US 10 128193011 128193011 single base substitution T A upstream_gene_variant COAD-US 10 128193063 128193063 single base substitution G A downstream_gene_variant COAD-US 10 128193063 128193063 single base substitution G A exon_variant COAD-US 10 128193063 128193063 single base substitution G A missense_variant P189S 565C>T COAD-US 10 128193063 128193063 single base substitution G A missense_variant P236S 706C>T COAD-US 10 128193063 128193063 single base substitution G A missense_variant P333S 997C>T COAD-US 10 128193063 128193063 single base substitution G A upstream_gene_variant COAD-US 10 128193320 128193320 deletion of <=200bp G - downstream_gene_variant COAD-US 10 128193320 128193320 deletion of <=200bp G - exon_variant COAD-US 10 128193320 128193320 deletion of <=200bp G - frameshift_variant P103 COAD-US 10 128193320 128193320 deletion of <=200bp G - frameshift_variant P150 COAD-US 10 128193320 128193320 deletion of <=200bp G - frameshift_variant P247 COAD-US 10 128193320 128193320 deletion of <=200bp G - upstream_gene_variant COAD-US 10 128193331 128193331 single base substitution G A downstream_gene_variant COAD-US 10 128193331 128193331 single base substitution G A exon_variant COAD-US 10 128193331 128193331 single base substitution G A synonymous_variant R146R 438C>T COAD-US 10 128193331 128193331 single base substitution G A synonymous_variant R243R 729C>T COAD-US 10 128193331 128193331 single base substitution G A synonymous_variant R99R 297C>T COAD-US 10 128193331 128193331 single base substitution G A upstream_gene_variant COAD-US 10 128193333 128193333 single base substitution G A downstream_gene_variant COAD-US 10 128193333 128193333 single base substitution G A exon_variant COAD-US 10 128193333 128193333 single base substitution G A missense_variant R146C 436C>T COAD-US 10 128193333 128193333 single base substitution G A missense_variant R243C 727C>T COAD-US 10 128193333 128193333 single base substitution G A missense_variant R99C 295C>T COAD-US 10 128193333 128193333 single base substitution G A upstream_gene_variant COAD-US 10 128193374 128193374 deletion of <=200bp C - downstream_gene_variant COAD-US 10 128193374 128193374 deletion of <=200bp C - exon_variant COAD-US 10 128193374 128193374 deletion of <=200bp C - frameshift_variant G132 COAD-US 10 128193374 128193374 deletion of <=200bp C - frameshift_variant G229 COAD-US 10 128193374 128193374 deletion of <=200bp C - frameshift_variant G85 COAD-US 10 128193374 128193374 deletion of <=200bp C - upstream_gene_variant COAD-US 10 128193400 128193400 single base substitution C T downstream_gene_variant COAD-US 10 128193400 128193400 single base substitution C T exon_variant COAD-US 10 128193400 128193400 single base substitution C T synonymous_variant P123P 369G>A COAD-US 10 128193400 128193400 single base substitution C T synonymous_variant P220P 660G>A COAD-US 10 128193400 128193400 single base substitution C T synonymous_variant P76P 228G>A COAD-US 10 128193400 128193400 single base substitution C T upstream_gene_variant COAD-US 10 128202460 128202460 deletion of <=200bp T - 5_prime_UTR_variant COAD-US 10 128202460 128202460 deletion of <=200bp T - exon_variant COAD-US 10 128202460 128202460 deletion of <=200bp T - frameshift_variant N121 COAD-US 10 128202460 128202460 deletion of <=200bp T - frameshift_variant N24 COCA-CN 10 128114629 128114629 single base substitution C A downstream_gene_variant COCA-CN 10 128114629 128114629 single base substitution C A missense_variant K206N 618G>T COCA-CN 10 128114629 128114629 single base substitution C A missense_variant K567N 1701G>T COCA-CN 10 128114629 128114629 single base substitution C A missense_variant K617N 1851G>T COCA-CN 10 128114629 128114629 single base substitution C A missense_variant K664N 1992G>T COCA-CN 10 128114629 128114629 single base substitution C A missense_variant K68N 204G>T COCA-CN 10 128114629 128114629 single base substitution C A missense_variant K761N 2283G>T COCA-CN 10 128116922 128116922 single base substitution C A intron_variant COCA-CN 10 128117233 128117233 single base substitution T A intron_variant COCA-CN 10 128118119 128118119 single base substitution G T intron_variant COCA-CN 10 128118365 128118365 single base substitution C T missense_variant R193Q 578G>A COCA-CN 10 128118365 128118365 single base substitution C T missense_variant R554Q 1661G>A COCA-CN 10 128118365 128118365 single base substitution C T missense_variant R55Q 164G>A COCA-CN 10 128118365 128118365 single base substitution C T missense_variant R604Q 1811G>A COCA-CN 10 128118365 128118365 single base substitution C T missense_variant R651Q 1952G>A COCA-CN 10 128118365 128118365 single base substitution C T missense_variant R748Q 2243G>A COCA-CN 10 128124667 128124667 single base substitution C T intron_variant COCA-CN 10 128135640 128135640 single base substitution C G intron_variant COCA-CN 10 128149941 128149941 single base substitution A C intron_variant COCA-CN 10 128151599 128151599 single base substitution T A intron_variant COCA-CN 10 128153360 128153360 single base substitution C A intron_variant COCA-CN 10 128153360 128153360 single base substitution C A missense_variant R433I 1298G>T COCA-CN 10 128153360 128153360 single base substitution C A missense_variant R480I 1439G>T COCA-CN 10 128153360 128153360 single base substitution C A missense_variant R577I 1730G>T COCA-CN 10 128153360 128153360 single base substitution C A upstream_gene_variant COCA-CN 10 128153409 128153409 single base substitution C T intron_variant COCA-CN 10 128153409 128153409 single base substitution C T missense_variant D417N 1249G>A COCA-CN 10 128153409 128153409 single base substitution C T missense_variant D464N 1390G>A COCA-CN 10 128153409 128153409 single base substitution C T missense_variant D561N 1681G>A COCA-CN 10 128153409 128153409 single base substitution C T upstream_gene_variant COCA-CN 10 128157012 128157012 single base substitution G A intron_variant COCA-CN 10 128158533 128158533 single base substitution T C intron_variant COCA-CN 10 128159331 128159331 single base substitution A G intron_variant COCA-CN 10 128190686 128190686 single base substitution A C downstream_gene_variant COCA-CN 10 128190686 128190686 single base substitution A C intron_variant COCA-CN 10 128191192 128191192 single base substitution A C downstream_gene_variant COCA-CN 10 128191192 128191192 single base substitution A C intron_variant COCA-CN 10 128195698 128195698 single base substitution G A intron_variant COCA-CN 10 128195698 128195698 single base substitution G A upstream_gene_variant COCA-CN 10 128198279 128198279 single base substitution G T intron_variant COCA-CN 10 128200953 128200953 single base substitution G A intron_variant COCA-CN 10 128204073 128204073 single base substitution G T intron_variant COCA-CN 10 128212739 128212739 single base substitution G T intron_variant COCA-CN 10 128212739 128212739 single base substitution G T upstream_gene_variant COCA-CN 10 128216020 128216020 single base substitution C T intron_variant COCA-CN 10 128216020 128216020 single base substitution C T upstream_gene_variant COCA-CN 10 128234672 128234672 single base substitution G A intron_variant COCA-CN 10 128235711 128235711 single base substitution G A intron_variant COCA-CN 10 128237584 128237584 single base substitution T A intron_variant COCA-CN 10 128238530 128238530 single base substitution T C intron_variant COCA-CN 10 128244092 128244092 single base substitution C A intron_variant COCA-CN 10 128247106 128247106 single base substitution C T intron_variant COCA-CN 10 128251829 128251829 single base substitution G A intron_variant COCA-CN 10 128264555 128264555 single base substitution G T intron_variant COCA-CN 10 128270113 128270113 single base substitution C T intron_variant COCA-CN 10 128290092 128290092 single base substitution A G intron_variant COCA-CN 10 128304734 128304734 single base substitution T C intron_variant COCA-CN 10 128308712 128308712 single base substitution A T intron_variant COCA-CN 10 128310551 128310551 single base substitution G A intron_variant COCA-CN 10 128314410 128314410 single base substitution G A intron_variant COCA-CN 10 128315574 128315574 single base substitution T C intron_variant COCA-CN 10 128317489 128317489 single base substitution A G intron_variant COCA-CN 10 128317498 128317498 single base substitution C A intron_variant COCA-CN 10 128320608 128320608 single base substitution G A intron_variant COCA-CN 10 128327047 128327047 single base substitution C A intron_variant COCA-CN 10 128330841 128330841 single base substitution C T intron_variant COCA-CN 10 128334030 128334030 single base substitution G A intron_variant COCA-CN 10 128335137 128335137 single base substitution C T 5_prime_UTR_variant COCA-CN 10 128335137 128335137 single base substitution C T missense_variant A104T 310G>A COCA-CN 10 128344408 128344408 single base substitution C A intron_variant COCA-CN 10 128346677 128346677 single base substitution C T intron_variant COCA-CN 10 128350613 128350613 single base substitution A C intron_variant COCA-CN 10 128351477 128351477 single base substitution G T intron_variant COCA-CN 10 128359062 128359062 single base substitution C A 5_prime_UTR_variant COCA-CN 10 128359062 128359062 single base substitution C A upstream_gene_variant EOPC-DE 10 128150805 128150805 single base substitution A G intron_variant EOPC-DE 10 128216383 128216383 single base substitution A T intron_variant EOPC-DE 10 128216383 128216383 single base substitution A T upstream_gene_variant EOPC-DE 10 128259588 128259588 single base substitution C T intron_variant EOPC-DE 10 128266190 128266190 single base substitution A G intron_variant EOPC-DE 10 128296765 128296765 single base substitution C A intron_variant EOPC-DE 10 128327972 128327972 single base substitution G A intron_variant EOPC-DE 10 128346039 128346039 single base substitution G T intron_variant ESAD-UK 10 128109269 128109269 single base substitution A G downstream_gene_variant ESAD-UK 10 128109384 128109384 single base substitution A C downstream_gene_variant ESAD-UK 10 128109399 128109399 single base substitution T G downstream_gene_variant ESAD-UK 10 128110343 128110343 single base substitution C G downstream_gene_variant ESAD-UK 10 128110778 128110778 single base substitution C T downstream_gene_variant ESAD-UK 10 128111704 128111704 single base substitution C A downstream_gene_variant ESAD-UK 10 128111892 128111892 single base substitution A C downstream_gene_variant ESAD-UK 10 128111902 128111902 single base substitution A C downstream_gene_variant ESAD-UK 10 128112108 128112108 single base substitution T C downstream_gene_variant ESAD-UK 10 128112133 128112133 single base substitution C G downstream_gene_variant ESAD-UK 10 128113099 128113099 single base substitution A G downstream_gene_variant ESAD-UK 10 128113170 128113170 single base substitution A C downstream_gene_variant ESAD-UK 10 128113318 128113318 single base substitution A C downstream_gene_variant ESAD-UK 10 128113691 128113691 single base substitution A C 3_prime_UTR_variant ESAD-UK 10 128113691 128113691 single base substitution A C downstream_gene_variant ESAD-UK 10 128113826 128113826 single base substitution G A 3_prime_UTR_variant ESAD-UK 10 128113826 128113826 single base substitution G A downstream_gene_variant ESAD-UK 10 128113893 128113893 single base substitution G A 3_prime_UTR_variant ESAD-UK 10 128113893 128113893 single base substitution G A downstream_gene_variant ESAD-UK 10 128114788 128114788 single base substitution A G intron_variant ESAD-UK 10 128114983 128114983 single base substitution T G intron_variant ESAD-UK 10 128115038 128115038 single base substitution T G intron_variant ESAD-UK 10 128115232 128115232 single base substitution T G intron_variant ESAD-UK 10 128115546 128115546 single base substitution G A intron_variant ESAD-UK 10 128115572 128115572 single base substitution A C intron_variant ESAD-UK 10 128115950 128115950 single base substitution G A intron_variant ESAD-UK 10 128116337 128116337 single base substitution G T intron_variant ESAD-UK 10 128117897 128117897 single base substitution T G intron_variant ESAD-UK 10 128118395 128118395 single base substitution C T missense_variant R183Q 548G>A ESAD-UK 10 128118395 128118395 single base substitution C T missense_variant R45Q 134G>A ESAD-UK 10 128118395 128118395 single base substitution C T missense_variant R544Q 1631G>A ESAD-UK 10 128118395 128118395 single base substitution C T missense_variant R594Q 1781G>A ESAD-UK 10 128118395 128118395 single base substitution C T missense_variant R641Q 1922G>A ESAD-UK 10 128118395 128118395 single base substitution C T missense_variant R738Q 2213G>A ESAD-UK 10 128119205 128119205 single base substitution T G intron_variant ESAD-UK 10 128119295 128119295 single base substitution T G intron_variant ESAD-UK 10 128120515 128120515 single base substitution T C intron_variant ESAD-UK 10 128120533 128120533 single base substitution C T intron_variant ESAD-UK 10 128120643 128120643 single base substitution T C intron_variant ESAD-UK 10 128120661 128120661 single base substitution T G intron_variant ESAD-UK 10 128120994 128120994 single base substitution A G intron_variant ESAD-UK 10 128121032 128121032 single base substitution A C intron_variant ESAD-UK 10 128121179 128121179 single base substitution C T intron_variant ESAD-UK 10 128121539 128121539 single base substitution C T intron_variant ESAD-UK 10 128121544 128121544 single base substitution A C intron_variant ESAD-UK 10 128121862 128121862 single base substitution A C intron_variant ESAD-UK 10 128122099 128122099 single base substitution T G intron_variant ESAD-UK 10 128122437 128122437 single base substitution A C intron_variant ESAD-UK 10 128122452 128122452 single base substitution A T intron_variant ESAD-UK 10 128122673 128122673 single base substitution A G intron_variant ESAD-UK 10 128122983 128122983 single base substitution T G intron_variant ESAD-UK 10 128123203 128123203 single base substitution A C intron_variant ESAD-UK 10 128123203 128123203 single base substitution A G intron_variant ESAD-UK 10 128123469 128123469 single base substitution T G intron_variant ESAD-UK 10 128123508 128123508 single base substitution T G intron_variant ESAD-UK 10 128123840 128123840 single base substitution T G intron_variant ESAD-UK 10 128124304 128124304 single base substitution T C intron_variant ESAD-UK 10 128124335 128124335 single base substitution T C intron_variant ESAD-UK 10 128124478 128124478 single base substitution T G intron_variant ESAD-UK 10 128124533 128124533 single base substitution T G intron_variant ESAD-UK 10 128124656 128124656 single base substitution C A intron_variant ESAD-UK 10 128124763 128124763 single base substitution T G intron_variant ESAD-UK 10 128125222 128125222 single base substitution A C intron_variant ESAD-UK 10 128125614 128125614 single base substitution T C intron_variant ESAD-UK 10 128125630 128125630 single base substitution C T intron_variant ESAD-UK 10 128125859 128125859 single base substitution C A intron_variant ESAD-UK 10 128126023 128126023 single base substitution T A intron_variant ESAD-UK 10 128126063 128126063 single base substitution G C intron_variant ESAD-UK 10 128126073 128126073 single base substitution A C intron_variant ESAD-UK 10 128126730 128126730 single base substitution A C intron_variant ESAD-UK 10 128126759 128126759 single base substitution A C intron_variant ESAD-UK 10 128126804 128126804 single base substitution T A intron_variant ESAD-UK 10 128126813 128126813 single base substitution T G intron_variant ESAD-UK 10 128127790 128127790 single base substitution A C intron_variant ESAD-UK 10 128128097 128128097 single base substitution A C intron_variant ESAD-UK 10 128128288 128128288 single base substitution A G intron_variant ESAD-UK 10 128128339 128128339 single base substitution A C intron_variant ESAD-UK 10 128128402 128128402 single base substitution T G intron_variant ESAD-UK 10 128128589 128128589 single base substitution T G intron_variant ESAD-UK 10 128128766 128128766 single base substitution T C intron_variant ESAD-UK 10 128128934 128128934 single base substitution C T intron_variant ESAD-UK 10 128129084 128129084 single base substitution C T intron_variant ESAD-UK 10 128129599 128129599 single base substitution A C intron_variant ESAD-UK 10 128129668 128129668 single base substitution A G intron_variant ESAD-UK 10 128130374 128130374 single base substitution G C intron_variant ESAD-UK 10 128130807 128130807 single base substitution A C intron_variant ESAD-UK 10 128130848 128130848 single base substitution T G intron_variant ESAD-UK 10 128131102 128131102 single base substitution T C intron_variant ESAD-UK 10 128131619 128131619 single base substitution C T intron_variant ESAD-UK 10 128131671 128131671 single base substitution A C intron_variant ESAD-UK 10 128131681 128131681 single base substitution G A intron_variant ESAD-UK 10 128132041 128132041 single base substitution T G intron_variant ESAD-UK 10 128133194 128133194 single base substitution T C intron_variant ESAD-UK 10 128133218 128133218 single base substitution T C intron_variant ESAD-UK 10 128133377 128133377 single base substitution T G intron_variant ESAD-UK 10 128133460 128133460 single base substitution G C intron_variant ESAD-UK 10 128133673 128133673 single base substitution T A intron_variant ESAD-UK 10 128134450 128134450 single base substitution A T intron_variant ESAD-UK 10 128134485 128134485 single base substitution A C intron_variant ESAD-UK 10 128134548 128134548 single base substitution A C intron_variant ESAD-UK 10 128135018 128135018 single base substitution A C intron_variant ESAD-UK 10 128135018 128135018 single base substitution A T intron_variant ESAD-UK 10 128135068 128135068 deletion of <=200bp A - intron_variant ESAD-UK 10 128135202 128135202 single base substitution A C intron_variant ESAD-UK 10 128135356 128135356 single base substitution T G intron_variant ESAD-UK 10 128135409 128135409 single base substitution A C intron_variant ESAD-UK 10 128135437 128135437 single base substitution A T intron_variant ESAD-UK 10 128135581 128135581 single base substitution C G intron_variant ESAD-UK 10 128136729 128136729 single base substitution G A intron_variant ESAD-UK 10 128137475 128137475 single base substitution A G intron_variant ESAD-UK 10 128137486 128137486 single base substitution T C intron_variant ESAD-UK 10 128137922 128137922 single base substitution T G intron_variant ESAD-UK 10 128139536 128139536 single base substitution T C intron_variant ESAD-UK 10 128140186 128140186 single base substitution A T intron_variant ESAD-UK 10 128140433 128140433 single base substitution G T intron_variant ESAD-UK 10 128141255 128141255 single base substitution C T intron_variant ESAD-UK 10 128142359 128142359 single base substitution T C intron_variant ESAD-UK 10 128142471 128142471 single base substitution A G intron_variant ESAD-UK 10 128142742 128142742 single base substitution T G intron_variant ESAD-UK 10 128142911 128142911 single base substitution C T intron_variant ESAD-UK 10 128143008 128143008 single base substitution T G intron_variant ESAD-UK 10 128143646 128143646 single base substitution T G intron_variant ESAD-UK 10 128144131 128144131 single base substitution A C intron_variant ESAD-UK 10 128144311 128144311 single base substitution G T intron_variant ESAD-UK 10 128144345 128144345 single base substitution A C intron_variant ESAD-UK 10 128144443 128144443 single base substitution G T intron_variant ESAD-UK 10 128145624 128145624 single base substitution A G intron_variant ESAD-UK 10 128145849 128145849 single base substitution G A intron_variant ESAD-UK 10 128146283 128146283 single base substitution C T intron_variant ESAD-UK 10 128146860 128146860 single base substitution A C intron_variant ESAD-UK 10 128146995 128146995 single base substitution G T intron_variant ESAD-UK 10 128148001 128148001 single base substitution C T intron_variant ESAD-UK 10 128149007 128149007 single base substitution A C intron_variant ESAD-UK 10 128149606 128149606 single base substitution A C intron_variant ESAD-UK 10 128150161 128150161 single base substitution G T splice_region_variant ESAD-UK 10 128150361 128150361 single base substitution T G intron_variant ESAD-UK 10 128150605 128150605 single base substitution A C intron_variant ESAD-UK 10 128150856 128150856 single base substitution T G intron_variant ESAD-UK 10 128151297 128151297 single base substitution C G intron_variant ESAD-UK 10 128151503 128151503 single base substitution T G intron_variant ESAD-UK 10 128152040 128152040 single base substitution T C intron_variant ESAD-UK 10 128152040 128152040 single base substitution T C upstream_gene_variant ESAD-UK 10 128152440 128152440 single base substitution C G intron_variant ESAD-UK 10 128152440 128152440 single base substitution C G upstream_gene_variant ESAD-UK 10 128153009 128153009 single base substitution C A intron_variant ESAD-UK 10 128153009 128153009 single base substitution C A upstream_gene_variant ESAD-UK 10 128153339 128153339 single base substitution A C intron_variant ESAD-UK 10 128153339 128153339 single base substitution A C missense_variant L440R 1319T>G ESAD-UK 10 128153339 128153339 single base substitution A C missense_variant L487R 1460T>G ESAD-UK 10 128153339 128153339 single base substitution A C missense_variant L584R 1751T>G ESAD-UK 10 128153339 128153339 single base substitution A C upstream_gene_variant ESAD-UK 10 128153339 128153339 single base substitution A G intron_variant ESAD-UK 10 128153339 128153339 single base substitution A G missense_variant L440P 1319T>C ESAD-UK 10 128153339 128153339 single base substitution A G missense_variant L487P 1460T>C ESAD-UK 10 128153339 128153339 single base substitution A G missense_variant L584P 1751T>C ESAD-UK 10 128153339 128153339 single base substitution A G upstream_gene_variant ESAD-UK 10 128153489 128153489 single base substitution G T intron_variant ESAD-UK 10 128153489 128153489 single base substitution G T missense_variant A390D 1169C>A ESAD-UK 10 128153489 128153489 single base substitution G T missense_variant A437D 1310C>A ESAD-UK 10 128153489 128153489 single base substitution G T missense_variant A534D 1601C>A ESAD-UK 10 128153489 128153489 single base substitution G T upstream_gene_variant ESAD-UK 10 128155164 128155164 single base substitution A C intron_variant ESAD-UK 10 128155164 128155164 single base substitution A C upstream_gene_variant ESAD-UK 10 128155895 128155895 single base substitution C A intron_variant ESAD-UK 10 128155895 128155895 single base substitution C A upstream_gene_variant ESAD-UK 10 128156274 128156274 single base substitution C T intron_variant ESAD-UK 10 128156274 128156274 single base substitution C T upstream_gene_variant ESAD-UK 10 128156336 128156336 single base substitution C A intron_variant ESAD-UK 10 128156336 128156336 single base substitution C A upstream_gene_variant ESAD-UK 10 128156705 128156705 single base substitution T G intron_variant ESAD-UK 10 128156705 128156705 single base substitution T G upstream_gene_variant ESAD-UK 10 128156806 128156806 single base substitution T G intron_variant ESAD-UK 10 128156806 128156806 single base substitution T G upstream_gene_variant ESAD-UK 10 128156845 128156845 single base substitution C T intron_variant ESAD-UK 10 128156845 128156845 single base substitution C T upstream_gene_variant ESAD-UK 10 128157456 128157456 single base substitution G T intron_variant ESAD-UK 10 128157473 128157473 single base substitution A G intron_variant ESAD-UK 10 128157600 128157600 single base substitution T G intron_variant ESAD-UK 10 128157727 128157727 single base substitution G A intron_variant ESAD-UK 10 128157751 128157751 single base substitution T G intron_variant ESAD-UK 10 128157894 128157894 single base substitution A G intron_variant ESAD-UK 10 128158755 128158755 single base substitution T C intron_variant ESAD-UK 10 128158793 128158793 single base substitution T G intron_variant ESAD-UK 10 128158970 128158970 single base substitution G A intron_variant ESAD-UK 10 128159411 128159411 single base substitution G A intron_variant ESAD-UK 10 128159546 128159546 single base substitution T G intron_variant ESAD-UK 10 128160107 128160107 single base substitution G C intron_variant ESAD-UK 10 128161253 128161253 single base substitution A C intron_variant ESAD-UK 10 128161374 128161374 single base substitution C T intron_variant ESAD-UK 10 128161756 128161756 single base substitution A G intron_variant ESAD-UK 10 128161772 128161772 single base substitution G C intron_variant ESAD-UK 10 128161795 128161795 single base substitution G T intron_variant ESAD-UK 10 128162427 128162427 single base substitution A C intron_variant ESAD-UK 10 128162542 128162542 single base substitution A C intron_variant ESAD-UK 10 128162628 128162628 single base substitution T C intron_variant ESAD-UK 10 128162628 128162628 single base substitution T G intron_variant ESAD-UK 10 128162690 128162690 single base substitution A C intron_variant ESAD-UK 10 128162692 128162692 single base substitution C A intron_variant ESAD-UK 10 128162758 128162758 single base substitution A G intron_variant ESAD-UK 10 128162800 128162800 single base substitution A G intron_variant ESAD-UK 10 128162909 128162909 single base substitution T A intron_variant ESAD-UK 10 128164008 128164008 single base substitution C G intron_variant ESAD-UK 10 128164016 128164016 single base substitution C T intron_variant ESAD-UK 10 128164183 128164183 single base substitution A C intron_variant ESAD-UK 10 128164550 128164550 single base substitution A G intron_variant ESAD-UK 10 128165743 128165743 single base substitution G A intron_variant ESAD-UK 10 128166144 128166144 insertion of <=200bp - A intron_variant ESAD-UK 10 128166481 128166481 single base substitution G T intron_variant ESAD-UK 10 128166982 128166982 single base substitution C A intron_variant ESAD-UK 10 128167114 128167114 single base substitution C T intron_variant ESAD-UK 10 128167128 128167128 single base substitution G T intron_variant ESAD-UK 10 128167529 128167529 single base substitution G T intron_variant ESAD-UK 10 128167713 128167713 single base substitution A G intron_variant ESAD-UK 10 128167826 128167826 single base substitution G T intron_variant ESAD-UK 10 128168648 128168648 single base substitution A C intron_variant ESAD-UK 10 128168782 128168782 single base substitution C T intron_variant ESAD-UK 10 128168873 128168873 single base substitution A C intron_variant ESAD-UK 10 128168945 128168945 single base substitution T A intron_variant ESAD-UK 10 128169273 128169273 single base substitution A G intron_variant ESAD-UK 10 128169383 128169383 single base substitution C A intron_variant ESAD-UK 10 128169894 128169894 single base substitution A G intron_variant ESAD-UK 10 128169997 128169997 single base substitution T G intron_variant ESAD-UK 10 128170156 128170156 single base substitution C T intron_variant ESAD-UK 10 128170210 128170210 single base substitution T G intron_variant ESAD-UK 10 128170265 128170265 single base substitution A C intron_variant ESAD-UK 10 128170274 128170274 single base substitution C T intron_variant ESAD-UK 10 128170498 128170498 single base substitution C A intron_variant ESAD-UK 10 128171085 128171085 single base substitution A C intron_variant ESAD-UK 10 128171177 128171177 single base substitution A G intron_variant ESAD-UK 10 128171739 128171739 single base substitution T C intron_variant ESAD-UK 10 128172291 128172291 single base substitution T G intron_variant ESAD-UK 10 128172374 128172374 single base substitution T C intron_variant ESAD-UK 10 128172534 128172534 single base substitution A G intron_variant ESAD-UK 10 128172641 128172641 single base substitution T C intron_variant ESAD-UK 10 128172671 128172671 single base substitution A G intron_variant ESAD-UK 10 128172683 128172683 single base substitution T C intron_variant ESAD-UK 10 128172884 128172884 single base substitution A T intron_variant ESAD-UK 10 128174407 128174407 single base substitution T G intron_variant ESAD-UK 10 128174647 128174647 single base substitution G T intron_variant ESAD-UK 10 128175273 128175273 single base substitution A C intron_variant ESAD-UK 10 128176631 128176631 single base substitution G A intron_variant ESAD-UK 10 128176760 128176760 single base substitution T A intron_variant ESAD-UK 10 128177405 128177405 single base substitution T C intron_variant ESAD-UK 10 128177484 128177484 single base substitution T G intron_variant ESAD-UK 10 128179117 128179117 single base substitution G T intron_variant ESAD-UK 10 128180656 128180656 single base substitution A G intron_variant ESAD-UK 10 128181165 128181165 single base substitution A G intron_variant ESAD-UK 10 128181358 128181358 single base substitution A C intron_variant ESAD-UK 10 128181547 128181547 single base substitution G T intron_variant ESAD-UK 10 128181897 128181897 single base substitution T C intron_variant ESAD-UK 10 128182686 128182686 single base substitution A C intron_variant ESAD-UK 10 128182780 128182780 single base substitution A T intron_variant ESAD-UK 10 128182855 128182855 single base substitution T G intron_variant ESAD-UK 10 128183248 128183248 single base substitution G A intron_variant ESAD-UK 10 128183601 128183601 single base substitution T G intron_variant ESAD-UK 10 128183953 128183953 single base substitution T C intron_variant ESAD-UK 10 128184318 128184318 deletion of <=200bp T - intron_variant ESAD-UK 10 128184756 128184756 single base substitution G A intron_variant ESAD-UK 10 128185012 128185012 single base substitution C G intron_variant ESAD-UK 10 128185382 128185382 single base substitution T A intron_variant ESAD-UK 10 128185666 128185666 single base substitution A C intron_variant ESAD-UK 10 128186028 128186028 single base substitution A C intron_variant ESAD-UK 10 128186199 128186199 single base substitution A G intron_variant ESAD-UK 10 128186998 128186998 single base substitution C A downstream_gene_variant ESAD-UK 10 128186998 128186998 single base substitution C A intron_variant ESAD-UK 10 128187014 128187014 single base substitution C T downstream_gene_variant ESAD-UK 10 128187014 128187014 single base substitution C T intron_variant ESAD-UK 10 128187856 128187856 single base substitution A T downstream_gene_variant ESAD-UK 10 128187856 128187856 single base substitution A T intron_variant ESAD-UK 10 128188771 128188771 single base substitution A G downstream_gene_variant ESAD-UK 10 128188771 128188771 single base substitution A G intron_variant ESAD-UK 10 128189149 128189149 single base substitution A C downstream_gene_variant ESAD-UK 10 128189149 128189149 single base substitution A C intron_variant ESAD-UK 10 128189897 128189897 single base substitution T G downstream_gene_variant ESAD-UK 10 128189897 128189897 single base substitution T G intron_variant ESAD-UK 10 128190108 128190108 single base substitution C A downstream_gene_variant ESAD-UK 10 128190108 128190108 single base substitution C A intron_variant ESAD-UK 10 128190259 128190259 single base substitution C A downstream_gene_variant ESAD-UK 10 128190259 128190259 single base substitution C A intron_variant ESAD-UK 10 128190379 128190379 single base substitution T C downstream_gene_variant ESAD-UK 10 128190379 128190379 single base substitution T C intron_variant ESAD-UK 10 128190491 128190491 single base substitution G A downstream_gene_variant ESAD-UK 10 128190491 128190491 single base substitution G A intron_variant ESAD-UK 10 128191077 128191077 single base substitution A C downstream_gene_variant ESAD-UK 10 128191077 128191077 single base substitution A C intron_variant ESAD-UK 10 128191079 128191079 single base substitution A C downstream_gene_variant ESAD-UK 10 128191079 128191079 single base substitution A C intron_variant ESAD-UK 10 128192176 128192176 single base substitution C T downstream_gene_variant ESAD-UK 10 128192176 128192176 single base substitution C T intron_variant ESAD-UK 10 128192761 128192761 single base substitution G T downstream_gene_variant ESAD-UK 10 128192761 128192761 single base substitution G T exon_variant ESAD-UK 10 128192761 128192761 single base substitution G T missense_variant N289K 867C>A ESAD-UK 10 128192761 128192761 single base substitution G T missense_variant N336K 1008C>A ESAD-UK 10 128192761 128192761 single base substitution G T missense_variant N433K 1299C>A ESAD-UK 10 128192761 128192761 single base substitution G T upstream_gene_variant ESAD-UK 10 128193071 128193071 single base substitution C T downstream_gene_variant ESAD-UK 10 128193071 128193071 single base substitution C T exon_variant ESAD-UK 10 128193071 128193071 single base substitution C T missense_variant S186N 557G>A ESAD-UK 10 128193071 128193071 single base substitution C T missense_variant S233N 698G>A ESAD-UK 10 128193071 128193071 single base substitution C T missense_variant S330N 989G>A ESAD-UK 10 128193071 128193071 single base substitution C T upstream_gene_variant ESAD-UK 10 128193111 128193111 single base substitution G T downstream_gene_variant ESAD-UK 10 128193111 128193111 single base substitution G T exon_variant ESAD-UK 10 128193111 128193111 single base substitution G T missense_variant R173S 517C>A ESAD-UK 10 128193111 128193111 single base substitution G T missense_variant R220S 658C>A ESAD-UK 10 128193111 128193111 single base substitution G T missense_variant R317S 949C>A ESAD-UK 10 128193111 128193111 single base substitution G T upstream_gene_variant ESAD-UK 10 128193332 128193332 single base substitution C T downstream_gene_variant ESAD-UK 10 128193332 128193332 single base substitution C T exon_variant ESAD-UK 10 128193332 128193332 single base substitution C T missense_variant R146H 437G>A ESAD-UK 10 128193332 128193332 single base substitution C T missense_variant R243H 728G>A ESAD-UK 10 128193332 128193332 single base substitution C T missense_variant R99H 296G>A ESAD-UK 10 128193332 128193332 single base substitution C T upstream_gene_variant ESAD-UK 10 128193341 128193341 single base substitution G C downstream_gene_variant ESAD-UK 10 128193341 128193341 single base substitution G C exon_variant ESAD-UK 10 128193341 128193341 single base substitution G C missense_variant T143R 428C>G ESAD-UK 10 128193341 128193341 single base substitution G C missense_variant T240R 719C>G ESAD-UK 10 128193341 128193341 single base substitution G C missense_variant T96R 287C>G ESAD-UK 10 128193341 128193341 single base substitution G C upstream_gene_variant ESAD-UK 10 128193797 128193797 single base substitution G C intron_variant ESAD-UK 10 128193797 128193797 single base substitution G C upstream_gene_variant ESAD-UK 10 128194243 128194243 single base substitution G T intron_variant ESAD-UK 10 128194243 128194243 single base substitution G T upstream_gene_variant ESAD-UK 10 128194642 128194642 single base substitution T C intron_variant ESAD-UK 10 128194642 128194642 single base substitution T C upstream_gene_variant ESAD-UK 10 128194941 128194941 single base substitution G A intron_variant ESAD-UK 10 128194941 128194941 single base substitution G A upstream_gene_variant ESAD-UK 10 128195198 128195198 single base substitution G A intron_variant ESAD-UK 10 128195198 128195198 single base substitution G A upstream_gene_variant ESAD-UK 10 128195293 128195293 single base substitution A C intron_variant ESAD-UK 10 128195293 128195293 single base substitution A C upstream_gene_variant ESAD-UK 10 128196129 128196129 single base substitution T A intron_variant ESAD-UK 10 128196129 128196129 single base substitution T A upstream_gene_variant ESAD-UK 10 128196397 128196397 single base substitution T G intron_variant ESAD-UK 10 128196397 128196397 single base substitution T G upstream_gene_variant ESAD-UK 10 128198344 128198344 single base substitution A C intron_variant ESAD-UK 10 128198359 128198359 single base substitution A T intron_variant ESAD-UK 10 128198829 128198829 single base substitution T G intron_variant ESAD-UK 10 128198909 128198909 single base substitution G A intron_variant ESAD-UK 10 128199523 128199523 single base substitution T C intron_variant ESAD-UK 10 128200126 128200126 single base substitution A G intron_variant ESAD-UK 10 128200879 128200880 deletion of <=200bp TG - intron_variant ESAD-UK 10 128201153 128201153 single base substitution A G intron_variant ESAD-UK 10 128201544 128201544 single base substitution T G intron_variant ESAD-UK 10 128201847 128201847 single base substitution A T intron_variant ESAD-UK 10 128201860 128201860 single base substitution T G intron_variant ESAD-UK 10 128201941 128201941 single base substitution G T intron_variant ESAD-UK 10 128202147 128202147 single base substitution T C intron_variant ESAD-UK 10 128202803 128202803 single base substitution C T intron_variant ESAD-UK 10 128202920 128202920 single base substitution A C intron_variant ESAD-UK 10 128203232 128203232 single base substitution C T intron_variant ESAD-UK 10 128204510 128204510 single base substitution G A intron_variant ESAD-UK 10 128204642 128204642 single base substitution A C intron_variant ESAD-UK 10 128205012 128205012 single base substitution T G intron_variant ESAD-UK 10 128205364 128205364 single base substitution C A intron_variant ESAD-UK 10 128207827 128207827 single base substitution A C intron_variant ESAD-UK 10 128208277 128208277 single base substitution C A intron_variant ESAD-UK 10 128208591 128208591 single base substitution T G intron_variant ESAD-UK 10 128208981 128208981 single base substitution A C 5_prime_UTR_variant ESAD-UK 10 128208981 128208981 single base substitution A C intron_variant ESAD-UK 10 128209182 128209182 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 10 128209182 128209182 single base substitution G A intron_variant ESAD-UK 10 128209662 128209662 single base substitution G A intron_variant ESAD-UK 10 128209662 128209662 single base substitution G A upstream_gene_variant ESAD-UK 10 128210352 128210352 single base substitution G A intron_variant ESAD-UK 10 128210352 128210352 single base substitution G A upstream_gene_variant ESAD-UK 10 128210758 128210758 single base substitution A G intron_variant ESAD-UK 10 128210758 128210758 single base substitution A G upstream_gene_variant ESAD-UK 10 128210950 128210950 single base substitution T C intron_variant ESAD-UK 10 128210950 128210950 single base substitution T C upstream_gene_variant ESAD-UK 10 128210950 128210950 single base substitution T G intron_variant ESAD-UK 10 128210950 128210950 single base substitution T G upstream_gene_variant ESAD-UK 10 128211147 128211147 single base substitution G A intron_variant ESAD-UK 10 128211147 128211147 single base substitution G A upstream_gene_variant ESAD-UK 10 128211219 128211219 single base substitution T C intron_variant ESAD-UK 10 128211219 128211219 single base substitution T C upstream_gene_variant ESAD-UK 10 128211848 128211848 single base substitution T C intron_variant ESAD-UK 10 128211848 128211848 single base substitution T C upstream_gene_variant ESAD-UK 10 128211910 128211910 single base substitution C T intron_variant ESAD-UK 10 128211910 128211910 single base substitution C T upstream_gene_variant ESAD-UK 10 128212505 128212505 single base substitution G C intron_variant ESAD-UK 10 128212505 128212505 single base substitution G C upstream_gene_variant ESAD-UK 10 128212573 128212573 single base substitution C A intron_variant ESAD-UK 10 128212573 128212573 single base substitution C A upstream_gene_variant ESAD-UK 10 128212786 128212786 single base substitution A G intron_variant ESAD-UK 10 128212786 128212786 single base substitution A G upstream_gene_variant ESAD-UK 10 128212894 128212894 single base substitution A G intron_variant ESAD-UK 10 128212894 128212894 single base substitution A G upstream_gene_variant ESAD-UK 10 128213477 128213477 single base substitution A G intron_variant ESAD-UK 10 128213477 128213477 single base substitution A G upstream_gene_variant ESAD-UK 10 128213954 128213954 single base substitution G T intron_variant ESAD-UK 10 128213954 128213954 single base substitution G T upstream_gene_variant ESAD-UK 10 128214370 128214370 single base substitution T G intron_variant ESAD-UK 10 128214370 128214370 single base substitution T G upstream_gene_variant ESAD-UK 10 128214509 128214509 single base substitution G C intron_variant ESAD-UK 10 128214509 128214509 single base substitution G C upstream_gene_variant ESAD-UK 10 128215793 128215793 single base substitution T C intron_variant ESAD-UK 10 128215793 128215793 single base substitution T C upstream_gene_variant ESAD-UK 10 128216769 128216769 single base substitution G A intron_variant ESAD-UK 10 128216769 128216769 single base substitution G A upstream_gene_variant ESAD-UK 10 128216976 128216976 single base substitution G C intron_variant ESAD-UK 10 128216976 128216976 single base substitution G C upstream_gene_variant ESAD-UK 10 128217006 128217006 single base substitution A G intron_variant ESAD-UK 10 128217006 128217006 single base substitution A G upstream_gene_variant ESAD-UK 10 128217081 128217081 single base substitution C T intron_variant ESAD-UK 10 128217081 128217081 single base substitution C T upstream_gene_variant ESAD-UK 10 128217379 128217379 single base substitution G C intron_variant ESAD-UK 10 128217379 128217379 single base substitution G C upstream_gene_variant ESAD-UK 10 128217403 128217403 single base substitution G T intron_variant ESAD-UK 10 128217403 128217403 single base substitution G T upstream_gene_variant ESAD-UK 10 128217420 128217420 single base substitution A C intron_variant ESAD-UK 10 128217420 128217420 single base substitution A C upstream_gene_variant ESAD-UK 10 128217541 128217541 single base substitution G T intron_variant ESAD-UK 10 128217541 128217541 single base substitution G T upstream_gene_variant ESAD-UK 10 128217999 128217999 single base substitution A C intron_variant ESAD-UK 10 128217999 128217999 single base substitution A C upstream_gene_variant ESAD-UK 10 128218158 128218158 single base substitution A C intron_variant ESAD-UK 10 128218158 128218158 single base substitution A C upstream_gene_variant ESAD-UK 10 128218559 128218559 deletion of <=200bp A - intron_variant ESAD-UK 10 128218772 128218772 single base substitution C T intron_variant ESAD-UK 10 128220556 128220556 single base substitution A C intron_variant ESAD-UK 10 128220911 128220911 single base substitution G T intron_variant ESAD-UK 10 128221144 128221144 single base substitution C T intron_variant ESAD-UK 10 128221563 128221563 single base substitution G A intron_variant ESAD-UK 10 128221639 128221639 single base substitution C T intron_variant ESAD-UK 10 128221742 128221742 single base substitution A T intron_variant ESAD-UK 10 128222683 128222683 single base substitution C A intron_variant ESAD-UK 10 128223619 128223619 single base substitution C A intron_variant ESAD-UK 10 128223746 128223746 insertion of <=200bp - AG intron_variant ESAD-UK 10 128223746 128223747 deletion of <=200bp AG - intron_variant ESAD-UK 10 128224924 128224924 single base substitution C T intron_variant ESAD-UK 10 128225680 128225680 single base substitution T C intron_variant ESAD-UK 10 128225896 128225896 single base substitution A C intron_variant ESAD-UK 10 128225919 128225919 single base substitution G T intron_variant ESAD-UK 10 128225998 128225998 single base substitution T G intron_variant ESAD-UK 10 128226303 128226303 single base substitution G A intron_variant ESAD-UK 10 128226929 128226929 single base substitution A T intron_variant ESAD-UK 10 128227607 128227607 single base substitution T C intron_variant ESAD-UK 10 128227749 128227749 single base substitution A G intron_variant ESAD-UK 10 128227996 128227996 single base substitution T G intron_variant ESAD-UK 10 128228257 128228257 single base substitution T C intron_variant ESAD-UK 10 128229069 128229069 single base substitution A T intron_variant ESAD-UK 10 128230056 128230056 single base substitution C T intron_variant ESAD-UK 10 128230857 128230857 single base substitution A T intron_variant ESAD-UK 10 128230981 128230981 single base substitution A T intron_variant ESAD-UK 10 128231105 128231105 single base substitution T A intron_variant ESAD-UK 10 128231644 128231644 single base substitution A C intron_variant ESAD-UK 10 128231647 128231647 single base substitution A G intron_variant ESAD-UK 10 128232776 128232776 single base substitution T A intron_variant ESAD-UK 10 128233138 128233138 single base substitution A C intron_variant ESAD-UK 10 128233138 128233138 single base substitution A G intron_variant ESAD-UK 10 128233409 128233409 single base substitution A C intron_variant ESAD-UK 10 128233950 128233950 single base substitution T C intron_variant ESAD-UK 10 128234033 128234033 single base substitution T A intron_variant ESAD-UK 10 128234034 128234034 single base substitution A T intron_variant ESAD-UK 10 128234748 128234748 single base substitution T G intron_variant ESAD-UK 10 128234869 128234869 single base substitution A C intron_variant ESAD-UK 10 128234881 128234881 single base substitution G T intron_variant ESAD-UK 10 128234975 128234975 single base substitution T C intron_variant ESAD-UK 10 128235476 128235476 single base substitution T G intron_variant ESAD-UK 10 128235587 128235587 single base substitution C T intron_variant ESAD-UK 10 128235991 128235991 single base substitution A T intron_variant ESAD-UK 10 128236406 128236406 single base substitution G A intron_variant ESAD-UK 10 128236420 128236420 single base substitution T A intron_variant ESAD-UK 10 128236532 128236532 single base substitution T G intron_variant ESAD-UK 10 128237131 128237131 single base substitution T C intron_variant ESAD-UK 10 128238934 128238934 single base substitution A C intron_variant ESAD-UK 10 128239090 128239090 deletion of <=200bp T - intron_variant ESAD-UK 10 128239935 128239935 single base substitution T C intron_variant ESAD-UK 10 128240347 128240347 single base substitution G A intron_variant ESAD-UK 10 128240895 128240895 single base substitution G T intron_variant ESAD-UK 10 128241321 128241321 single base substitution T C intron_variant ESAD-UK 10 128241353 128241353 single base substitution A G intron_variant ESAD-UK 10 128241459 128241459 single base substitution A G intron_variant ESAD-UK 10 128241769 128241769 single base substitution A C intron_variant ESAD-UK 10 128242135 128242135 single base substitution C G intron_variant ESAD-UK 10 128242461 128242461 single base substitution C T intron_variant ESAD-UK 10 128242507 128242507 single base substitution G A intron_variant ESAD-UK 10 128243065 128243065 single base substitution A C intron_variant ESAD-UK 10 128243361 128243361 single base substitution A G intron_variant ESAD-UK 10 128243817 128243817 single base substitution C A intron_variant ESAD-UK 10 128244092 128244092 single base substitution C A intron_variant ESAD-UK 10 128244203 128244203 single base substitution G A intron_variant ESAD-UK 10 128244471 128244471 single base substitution T G intron_variant ESAD-UK 10 128246352 128246352 single base substitution T A intron_variant ESAD-UK 10 128246808 128246808 single base substitution C A intron_variant ESAD-UK 10 128247315 128247315 single base substitution A C intron_variant ESAD-UK 10 128248262 128248262 single base substitution A C intron_variant ESAD-UK 10 128249155 128249155 single base substitution A C intron_variant ESAD-UK 10 128249429 128249429 single base substitution A C intron_variant ESAD-UK 10 128250671 128250671 single base substitution G T intron_variant ESAD-UK 10 128251138 128251138 insertion of <=200bp - T intron_variant ESAD-UK 10 128251139 128251139 single base substitution G T intron_variant ESAD-UK 10 128251708 128251708 single base substitution T G intron_variant ESAD-UK 10 128251818 128251818 single base substitution G A intron_variant ESAD-UK 10 128251824 128251824 single base substitution C T intron_variant ESAD-UK 10 128252068 128252068 single base substitution A C intron_variant ESAD-UK 10 128252347 128252347 single base substitution C A intron_variant ESAD-UK 10 128252404 128252404 single base substitution A G intron_variant ESAD-UK 10 128253051 128253051 single base substitution C T intron_variant ESAD-UK 10 128253204 128253204 single base substitution T C intron_variant ESAD-UK 10 128253391 128253391 insertion of <=200bp - CT intron_variant ESAD-UK 10 128254033 128254033 single base substitution T C intron_variant ESAD-UK 10 128255068 128255068 single base substitution C A intron_variant ESAD-UK 10 128255613 128255613 single base substitution A G intron_variant ESAD-UK 10 128256185 128256185 single base substitution A G intron_variant ESAD-UK 10 128256338 128256338 single base substitution C A intron_variant ESAD-UK 10 128256599 128256599 single base substitution C T intron_variant ESAD-UK 10 128256946 128256946 single base substitution G T intron_variant ESAD-UK 10 128257135 128257135 single base substitution T A intron_variant ESAD-UK 10 128257155 128257155 single base substitution A C intron_variant ESAD-UK 10 128257187 128257187 single base substitution T A intron_variant ESAD-UK 10 128258347 128258347 single base substitution A G intron_variant ESAD-UK 10 128258973 128258973 single base substitution A G intron_variant ESAD-UK 10 128259017 128259017 single base substitution G A intron_variant ESAD-UK 10 128259245 128259245 single base substitution G T intron_variant ESAD-UK 10 128259950 128259950 single base substitution C A intron_variant ESAD-UK 10 128260075 128260075 single base substitution C A intron_variant ESAD-UK 10 128260268 128260268 single base substitution C G intron_variant ESAD-UK 10 128260652 128260652 single base substitution G A intron_variant ESAD-UK 10 128261317 128261317 single base substitution A C intron_variant ESAD-UK 10 128261777 128261777 single base substitution A G intron_variant ESAD-UK 10 128262193 128262193 single base substitution T G intron_variant ESAD-UK 10 128262280 128262280 single base substitution A C intron_variant ESAD-UK 10 128263117 128263117 single base substitution T G intron_variant ESAD-UK 10 128263546 128263546 single base substitution T C intron_variant ESAD-UK 10 128263593 128263593 single base substitution A C intron_variant ESAD-UK 10 128263643 128263643 single base substitution A C intron_variant ESAD-UK 10 128263776 128263776 single base substitution A C intron_variant ESAD-UK 10 128263940 128263940 single base substitution A C intron_variant ESAD-UK 10 128264701 128264701 single base substitution A G intron_variant ESAD-UK 10 128264870 128264870 single base substitution G A intron_variant ESAD-UK 10 128265384 128265384 single base substitution C A intron_variant ESAD-UK 10 128265875 128265875 single base substitution A G intron_variant ESAD-UK 10 128265984 128265984 single base substitution A C intron_variant ESAD-UK 10 128266568 128266568 single base substitution C A intron_variant ESAD-UK 10 128267109 128267109 single base substitution A G intron_variant ESAD-UK 10 128267643 128267643 single base substitution A T intron_variant ESAD-UK 10 128267936 128267936 single base substitution A G intron_variant ESAD-UK 10 128268042 128268042 single base substitution T C intron_variant ESAD-UK 10 128268756 128268756 single base substitution G A intron_variant ESAD-UK 10 128268973 128268973 single base substitution C A intron_variant ESAD-UK 10 128269672 128269672 single base substitution G A intron_variant ESAD-UK 10 128270362 128270362 single base substitution T C intron_variant ESAD-UK 10 128270430 128270430 single base substitution G T intron_variant ESAD-UK 10 128270884 128270884 single base substitution C T intron_variant ESAD-UK 10 128270939 128270939 single base substitution G A intron_variant ESAD-UK 10 128271367 128271367 single base substitution C T intron_variant ESAD-UK 10 128271439 128271439 single base substitution T C intron_variant ESAD-UK 10 128271693 128271693 single base substitution T C intron_variant ESAD-UK 10 128272191 128272191 single base substitution A C intron_variant ESAD-UK 10 128272712 128272712 single base substitution T G intron_variant ESAD-UK 10 128273412 128273412 insertion of <=200bp - TG intron_variant ESAD-UK 10 128273596 128273596 single base substitution G C intron_variant ESAD-UK 10 128273926 128273926 insertion of <=200bp - G intron_variant ESAD-UK 10 128274051 128274051 single base substitution A C intron_variant ESAD-UK 10 128274764 128274764 single base substitution A C intron_variant ESAD-UK 10 128274885 128274885 single base substitution G T intron_variant ESAD-UK 10 128274886 128274886 single base substitution C A intron_variant ESAD-UK 10 128275293 128275293 single base substitution A C intron_variant ESAD-UK 10 128275370 128275370 single base substitution C T intron_variant ESAD-UK 10 128276052 128276052 single base substitution G A intron_variant ESAD-UK 10 128276177 128276177 single base substitution T C intron_variant ESAD-UK 10 128277109 128277109 single base substitution G T intron_variant ESAD-UK 10 128277391 128277391 single base substitution C G intron_variant ESAD-UK 10 128278510 128278510 single base substitution A C intron_variant ESAD-UK 10 128278591 128278591 single base substitution A C intron_variant ESAD-UK 10 128278672 128278672 single base substitution G A intron_variant ESAD-UK 10 128278980 128278980 single base substitution T G intron_variant ESAD-UK 10 128279069 128279069 single base substitution G A intron_variant ESAD-UK 10 128280053 128280053 single base substitution T C intron_variant ESAD-UK 10 128280063 128280063 single base substitution C T intron_variant ESAD-UK 10 128280306 128280306 single base substitution A T intron_variant ESAD-UK 10 128280433 128280433 single base substitution A C intron_variant ESAD-UK 10 128280563 128280563 single base substitution A C intron_variant ESAD-UK 10 128280953 128280953 single base substitution A C intron_variant ESAD-UK 10 128281035 128281035 single base substitution G A intron_variant ESAD-UK 10 128281227 128281227 single base substitution A G intron_variant ESAD-UK 10 128281410 128281410 insertion of <=200bp - A intron_variant ESAD-UK 10 128281471 128281471 single base substitution G A intron_variant ESAD-UK 10 128281850 128281850 single base substitution C G intron_variant ESAD-UK 10 128282047 128282047 single base substitution A G intron_variant ESAD-UK 10 128282100 128282100 single base substitution A C intron_variant ESAD-UK 10 128282176 128282176 single base substitution C G intron_variant ESAD-UK 10 128282258 128282258 single base substitution T G intron_variant ESAD-UK 10 128282274 128282274 single base substitution A C intron_variant ESAD-UK 10 128282461 128282461 single base substitution A T intron_variant ESAD-UK 10 128282788 128282788 single base substitution G C intron_variant ESAD-UK 10 128282962 128282962 single base substitution A G intron_variant ESAD-UK 10 128282977 128282977 single base substitution G T intron_variant ESAD-UK 10 128284347 128284347 single base substitution C T intron_variant ESAD-UK 10 128284434 128284434 single base substitution T G intron_variant ESAD-UK 10 128284594 128284594 single base substitution G C intron_variant ESAD-UK 10 128284801 128284801 single base substitution G T intron_variant ESAD-UK 10 128285261 128285261 single base substitution A C intron_variant ESAD-UK 10 128285293 128285293 single base substitution A G intron_variant ESAD-UK 10 128285400 128285400 single base substitution T A intron_variant ESAD-UK 10 128286986 128286986 single base substitution A T intron_variant ESAD-UK 10 128287090 128287090 single base substitution T G intron_variant ESAD-UK 10 128287784 128287784 single base substitution C T intron_variant ESAD-UK 10 128288433 128288433 single base substitution G A intron_variant ESAD-UK 10 128289079 128289079 single base substitution G A intron_variant ESAD-UK 10 128289538 128289538 single base substitution A G intron_variant ESAD-UK 10 128289703 128289703 single base substitution A C intron_variant ESAD-UK 10 128290183 128290183 single base substitution T C intron_variant ESAD-UK 10 128290337 128290337 single base substitution C T intron_variant ESAD-UK 10 128290682 128290682 single base substitution A C intron_variant ESAD-UK 10 128290904 128290904 single base substitution A C intron_variant ESAD-UK 10 128291514 128291514 single base substitution A T intron_variant ESAD-UK 10 128291621 128291621 single base substitution G A intron_variant ESAD-UK 10 128291946 128291946 single base substitution A G intron_variant ESAD-UK 10 128292362 128292362 single base substitution A C intron_variant ESAD-UK 10 128292988 128292988 insertion of <=200bp - A intron_variant ESAD-UK 10 128293080 128293080 single base substitution C A intron_variant ESAD-UK 10 128293161 128293161 single base substitution C G intron_variant ESAD-UK 10 128293274 128293274 single base substitution A T intron_variant ESAD-UK 10 128293715 128293715 single base substitution A T intron_variant ESAD-UK 10 128293971 128293971 single base substitution A C intron_variant ESAD-UK 10 128293980 128293980 single base substitution A G intron_variant ESAD-UK 10 128293996 128293996 single base substitution T A intron_variant ESAD-UK 10 128294034 128294034 single base substitution C A intron_variant ESAD-UK 10 128294252 128294252 single base substitution A G intron_variant ESAD-UK 10 128294449 128294449 insertion of <=200bp - CATA intron_variant ESAD-UK 10 128294449 128294452 deletion of <=200bp CATA - intron_variant ESAD-UK 10 128294671 128294671 single base substitution A C intron_variant ESAD-UK 10 128295163 128295163 single base substitution G T intron_variant ESAD-UK 10 128295328 128295328 single base substitution G A intron_variant ESAD-UK 10 128295966 128295966 single base substitution T G intron_variant ESAD-UK 10 128296727 128296727 single base substitution G A intron_variant ESAD-UK 10 128297070 128297070 single base substitution G T intron_variant ESAD-UK 10 128297239 128297239 single base substitution A C intron_variant ESAD-UK 10 128297730 128297730 single base substitution G T intron_variant ESAD-UK 10 128298292 128298292 single base substitution G A intron_variant ESAD-UK 10 128298300 128298300 single base substitution A C intron_variant ESAD-UK 10 128298753 128298753 single base substitution T G intron_variant ESAD-UK 10 128299087 128299087 single base substitution C A intron_variant ESAD-UK 10 128299352 128299352 single base substitution A T intron_variant ESAD-UK 10 128299462 128299462 single base substitution T G intron_variant ESAD-UK 10 128299509 128299509 insertion of <=200bp - T intron_variant ESAD-UK 10 128299562 128299562 single base substitution T G intron_variant ESAD-UK 10 128299914 128299914 single base substitution G C intron_variant ESAD-UK 10 128299960 128299960 single base substitution G A intron_variant ESAD-UK 10 128300362 128300362 single base substitution A T intron_variant ESAD-UK 10 128300456 128300456 single base substitution A T intron_variant ESAD-UK 10 128300555 128300555 single base substitution T A intron_variant ESAD-UK 10 128300577 128300577 single base substitution A G intron_variant ESAD-UK 10 128300749 128300749 single base substitution G A intron_variant ESAD-UK 10 128301583 128301583 single base substitution G A intron_variant ESAD-UK 10 128301711 128301711 single base substitution C G intron_variant ESAD-UK 10 128301948 128301948 single base substitution G C intron_variant ESAD-UK 10 128301968 128301968 single base substitution G T intron_variant ESAD-UK 10 128302053 128302053 single base substitution A G intron_variant ESAD-UK 10 128302447 128302447 single base substitution A G intron_variant ESAD-UK 10 128302528 128302528 single base substitution A G intron_variant ESAD-UK 10 128302541 128302541 single base substitution T C intron_variant ESAD-UK 10 128302650 128302650 single base substitution G A intron_variant ESAD-UK 10 128302805 128302805 single base substitution A C intron_variant ESAD-UK 10 128302972 128302972 single base substitution A C intron_variant ESAD-UK 10 128303003 128303003 single base substitution A G intron_variant ESAD-UK 10 128303013 128303013 single base substitution A C intron_variant ESAD-UK 10 128303217 128303217 single base substitution C A intron_variant ESAD-UK 10 128303340 128303340 single base substitution G C intron_variant ESAD-UK 10 128303574 128303574 single base substitution A G intron_variant ESAD-UK 10 128303900 128303900 single base substitution A C intron_variant ESAD-UK 10 128304654 128304654 single base substitution A G intron_variant ESAD-UK 10 128304697 128304697 single base substitution T C intron_variant ESAD-UK 10 128304892 128304892 single base substitution A C intron_variant ESAD-UK 10 128305491 128305491 single base substitution C T intron_variant ESAD-UK 10 128305555 128305555 single base substitution A C intron_variant ESAD-UK 10 128305587 128305587 single base substitution G A intron_variant ESAD-UK 10 128305748 128305748 single base substitution T C intron_variant ESAD-UK 10 128306228 128306228 single base substitution T G intron_variant ESAD-UK 10 128306309 128306309 single base substitution A G intron_variant ESAD-UK 10 128306384 128306384 single base substitution A G intron_variant ESAD-UK 10 128306657 128306657 single base substitution T G intron_variant ESAD-UK 10 128306670 128306670 single base substitution T G intron_variant ESAD-UK 10 128306702 128306702 single base substitution C A intron_variant ESAD-UK 10 128306768 128306768 single base substitution A C intron_variant ESAD-UK 10 128307116 128307116 single base substitution C T intron_variant ESAD-UK 10 128307564 128307564 single base substitution C T intron_variant ESAD-UK 10 128307567 128307567 deletion of <=200bp A - intron_variant ESAD-UK 10 128308160 128308160 single base substitution C A intron_variant ESAD-UK 10 128308452 128308452 single base substitution T G intron_variant ESAD-UK 10 128308696 128308696 single base substitution A C intron_variant ESAD-UK 10 128309087 128309087 single base substitution T G intron_variant ESAD-UK 10 128310774 128310774 single base substitution C G intron_variant ESAD-UK 10 128310938 128310938 single base substitution C A intron_variant ESAD-UK 10 128311156 128311156 single base substitution A C intron_variant ESAD-UK 10 128311529 128311529 single base substitution G A intron_variant ESAD-UK 10 128311721 128311721 single base substitution A G intron_variant ESAD-UK 10 128311773 128311773 single base substitution C A intron_variant ESAD-UK 10 128311822 128311822 single base substitution A C intron_variant ESAD-UK 10 128312855 128312855 single base substitution C T intron_variant ESAD-UK 10 128313265 128313265 single base substitution A G intron_variant ESAD-UK 10 128313382 128313382 deletion of <=200bp G - intron_variant ESAD-UK 10 128313836 128313836 single base substitution C A intron_variant ESAD-UK 10 128313979 128313979 single base substitution T C intron_variant ESAD-UK 10 128314096 128314096 single base substitution T G intron_variant ESAD-UK 10 128315636 128315636 single base substitution T G intron_variant ESAD-UK 10 128315730 128315730 single base substitution G A intron_variant ESAD-UK 10 128316684 128316684 single base substitution T A intron_variant ESAD-UK 10 128316897 128316897 single base substitution G T intron_variant ESAD-UK 10 128317094 128317094 single base substitution T C intron_variant ESAD-UK 10 128317348 128317348 single base substitution T G intron_variant ESAD-UK 10 128317393 128317393 single base substitution T C intron_variant ESAD-UK 10 128317488 128317488 single base substitution C T intron_variant ESAD-UK 10 128317663 128317663 single base substitution T C intron_variant ESAD-UK 10 128318159 128318159 single base substitution G C intron_variant ESAD-UK 10 128318165 128318165 single base substitution A G intron_variant ESAD-UK 10 128318394 128318394 single base substitution G T intron_variant ESAD-UK 10 128319445 128319445 single base substitution G T intron_variant ESAD-UK 10 128319862 128319862 single base substitution T C intron_variant ESAD-UK 10 128319862 128319862 single base substitution T G intron_variant ESAD-UK 10 128319901 128319901 single base substitution T G intron_variant ESAD-UK 10 128320203 128320203 single base substitution A C intron_variant ESAD-UK 10 128320704 128320704 single base substitution C T intron_variant ESAD-UK 10 128320954 128320954 single base substitution A C intron_variant ESAD-UK 10 128321024 128321024 single base substitution A T intron_variant ESAD-UK 10 128321515 128321515 single base substitution A G intron_variant ESAD-UK 10 128321613 128321613 single base substitution A C intron_variant ESAD-UK 10 128321787 128321787 single base substitution T C intron_variant ESAD-UK 10 128321818 128321818 single base substitution A C intron_variant ESAD-UK 10 128322072 128322072 single base substitution C A intron_variant ESAD-UK 10 128322080 128322080 single base substitution A C intron_variant ESAD-UK 10 128322309 128322309 single base substitution A C intron_variant ESAD-UK 10 128322824 128322824 single base substitution A C intron_variant ESAD-UK 10 128323542 128323542 single base substitution A G intron_variant ESAD-UK 10 128323810 128323810 single base substitution A G intron_variant ESAD-UK 10 128324547 128324547 single base substitution A C intron_variant ESAD-UK 10 128324960 128324960 single base substitution A T intron_variant ESAD-UK 10 128325069 128325069 single base substitution A C intron_variant ESAD-UK 10 128325356 128325356 deletion of <=200bp A - intron_variant ESAD-UK 10 128325921 128325921 single base substitution T G intron_variant ESAD-UK 10 128326398 128326398 single base substitution C T intron_variant ESAD-UK 10 128326912 128326912 single base substitution T A intron_variant ESAD-UK 10 128327121 128327121 single base substitution T G intron_variant ESAD-UK 10 128327497 128327497 single base substitution G C intron_variant ESAD-UK 10 128327565 128327565 single base substitution T A intron_variant ESAD-UK 10 128327917 128327917 single base substitution C T intron_variant ESAD-UK 10 128328343 128328343 single base substitution G A intron_variant ESAD-UK 10 128328479 128328479 single base substitution T G intron_variant ESAD-UK 10 128328855 128328855 single base substitution C G intron_variant ESAD-UK 10 128328856 128328856 single base substitution T C intron_variant ESAD-UK 10 128329588 128329588 single base substitution A C intron_variant ESAD-UK 10 128329928 128329928 single base substitution A C intron_variant ESAD-UK 10 128329974 128329974 single base substitution T C intron_variant ESAD-UK 10 128330447 128330447 single base substitution C A intron_variant ESAD-UK 10 128331163 128331163 single base substitution A G intron_variant ESAD-UK 10 128331815 128331815 single base substitution G A intron_variant ESAD-UK 10 128332247 128332247 single base substitution C G intron_variant ESAD-UK 10 128332337 128332337 single base substitution T G intron_variant ESAD-UK 10 128332375 128332375 single base substitution A C intron_variant ESAD-UK 10 128333156 128333156 single base substitution A C intron_variant ESAD-UK 10 128333199 128333199 single base substitution A C intron_variant ESAD-UK 10 128333436 128333436 single base substitution T C intron_variant ESAD-UK 10 128333467 128333467 single base substitution A C intron_variant ESAD-UK 10 128333519 128333519 single base substitution A C intron_variant ESAD-UK 10 128334050 128334050 single base substitution T G intron_variant ESAD-UK 10 128334565 128334565 single base substitution T C intron_variant ESAD-UK 10 128335635 128335635 single base substitution A G intron_variant ESAD-UK 10 128335987 128335987 single base substitution A C intron_variant ESAD-UK 10 128336100 128336100 single base substitution C G intron_variant ESAD-UK 10 128336232 128336232 single base substitution A C intron_variant ESAD-UK 10 128336234 128336234 single base substitution T G intron_variant ESAD-UK 10 128336471 128336471 single base substitution G C intron_variant ESAD-UK 10 128337313 128337313 single base substitution G A intron_variant ESAD-UK 10 128337462 128337462 single base substitution A C intron_variant ESAD-UK 10 128337768 128337768 single base substitution T G intron_variant ESAD-UK 10 128338602 128338602 single base substitution T G intron_variant ESAD-UK 10 128339210 128339210 single base substitution A C intron_variant ESAD-UK 10 128339828 128339828 single base substitution C A intron_variant ESAD-UK 10 128339974 128339974 single base substitution T G intron_variant ESAD-UK 10 128340049 128340049 single base substitution A C intron_variant ESAD-UK 10 128341381 128341381 single base substitution A G intron_variant ESAD-UK 10 128341525 128341525 single base substitution T G intron_variant ESAD-UK 10 128341526 128341526 single base substitution T G intron_variant ESAD-UK 10 128341786 128341786 single base substitution A C intron_variant ESAD-UK 10 128341786 128341786 single base substitution A G intron_variant ESAD-UK 10 128341800 128341800 single base substitution A T intron_variant ESAD-UK 10 128341901 128341901 single base substitution T C intron_variant ESAD-UK 10 128341928 128341928 single base substitution A C intron_variant ESAD-UK 10 128342057 128342057 single base substitution A C intron_variant ESAD-UK 10 128342320 128342320 single base substitution A G intron_variant ESAD-UK 10 128342943 128342943 single base substitution G A intron_variant ESAD-UK 10 128343013 128343013 deletion of <=200bp T - intron_variant ESAD-UK 10 128343565 128343565 single base substitution G A intron_variant ESAD-UK 10 128343617 128343617 single base substitution C T intron_variant ESAD-UK 10 128343842 128343842 single base substitution G A intron_variant ESAD-UK 10 128344134 128344134 single base substitution T A intron_variant ESAD-UK 10 128344228 128344228 single base substitution T G intron_variant ESAD-UK 10 128344679 128344679 single base substitution A C intron_variant ESAD-UK 10 128344823 128344823 single base substitution T G intron_variant ESAD-UK 10 128344916 128344916 single base substitution T G intron_variant ESAD-UK 10 128345077 128345077 single base substitution G A intron_variant ESAD-UK 10 128345832 128345832 insertion of <=200bp - T intron_variant ESAD-UK 10 128345887 128345887 single base substitution T G intron_variant ESAD-UK 10 128346190 128346190 single base substitution T C intron_variant ESAD-UK 10 128346322 128346322 single base substitution T G intron_variant ESAD-UK 10 128346391 128346391 single base substitution A C intron_variant ESAD-UK 10 128346856 128346856 single base substitution T G intron_variant ESAD-UK 10 128347210 128347210 single base substitution C A intron_variant ESAD-UK 10 128347782 128347782 single base substitution A C intron_variant ESAD-UK 10 128347954 128347954 single base substitution T A intron_variant ESAD-UK 10 128348470 128348470 single base substitution T G intron_variant ESAD-UK 10 128348615 128348615 single base substitution A C intron_variant ESAD-UK 10 128348664 128348664 single base substitution A T intron_variant ESAD-UK 10 128348763 128348763 single base substitution A C intron_variant ESAD-UK 10 128349046 128349046 single base substitution A T intron_variant ESAD-UK 10 128349766 128349766 single base substitution G T intron_variant ESAD-UK 10 128350426 128350426 single base substitution A G intron_variant ESAD-UK 10 128350690 128350690 single base substitution G T intron_variant ESAD-UK 10 128350752 128350752 single base substitution G A intron_variant ESAD-UK 10 128350826 128350826 single base substitution G A intron_variant ESAD-UK 10 128351441 128351441 single base substitution G A intron_variant ESAD-UK 10 128351512 128351512 single base substitution G T intron_variant ESAD-UK 10 128352786 128352786 single base substitution C G intron_variant ESAD-UK 10 128352967 128352967 single base substitution A C intron_variant ESAD-UK 10 128352973 128352973 single base substitution T A intron_variant ESAD-UK 10 128353362 128353362 single base substitution A G intron_variant ESAD-UK 10 128353858 128353858 single base substitution G T intron_variant ESAD-UK 10 128353993 128353993 single base substitution T C intron_variant ESAD-UK 10 128354208 128354208 single base substitution C T intron_variant ESAD-UK 10 128354457 128354457 single base substitution T C intron_variant ESAD-UK 10 128354602 128354602 single base substitution A G intron_variant ESAD-UK 10 128354822 128354822 single base substitution C A intron_variant ESAD-UK 10 128355636 128355636 single base substitution T C intron_variant ESAD-UK 10 128356345 128356345 single base substitution A C intron_variant ESAD-UK 10 128356359 128356359 single base substitution T C intron_variant ESAD-UK 10 128356459 128356459 single base substitution A C intron_variant ESAD-UK 10 128356459 128356459 single base substitution A G intron_variant ESAD-UK 10 128356611 128356611 single base substitution C G intron_variant ESAD-UK 10 128356825 128356825 single base substitution T C intron_variant ESAD-UK 10 128357263 128357263 single base substitution G T intron_variant ESAD-UK 10 128357328 128357328 single base substitution C A intron_variant ESAD-UK 10 128357420 128357420 single base substitution A C intron_variant ESAD-UK 10 128358057 128358057 single base substitution A G intron_variant ESAD-UK 10 128358586 128358586 single base substitution C T intron_variant ESAD-UK 10 128359578 128359578 single base substitution C T upstream_gene_variant ESAD-UK 10 128359882 128359882 single base substitution C T upstream_gene_variant ESAD-UK 10 128360649 128360649 single base substitution A C upstream_gene_variant ESAD-UK 10 128360668 128360668 single base substitution G A upstream_gene_variant ESAD-UK 10 128361536 128361536 single base substitution A G upstream_gene_variant ESAD-UK 10 128361762 128361762 single base substitution A G upstream_gene_variant ESAD-UK 10 128361942 128361942 single base substitution T C upstream_gene_variant ESAD-UK 10 128364042 128364042 single base substitution A C upstream_gene_variant ESCA-CN 10 128191368 128191368 single base substitution T C downstream_gene_variant ESCA-CN 10 128191368 128191368 single base substitution T C exon_variant ESCA-CN 10 128191368 128191368 single base substitution T C intron_variant ESCA-CN 10 128191368 128191368 single base substitution T C missense_variant M380V 1138A>G ESCA-CN 10 128193314 128193314 single base substitution C T downstream_gene_variant ESCA-CN 10 128193314 128193314 single base substitution C T exon_variant ESCA-CN 10 128193314 128193314 single base substitution C T missense_variant R105H 314G>A ESCA-CN 10 128193314 128193314 single base substitution C T missense_variant R152H 455G>A ESCA-CN 10 128193314 128193314 single base substitution C T missense_variant R249H 746G>A ESCA-CN 10 128193314 128193314 single base substitution C T upstream_gene_variant ESCA-CN 10 128202435 128202435 single base substitution T C 5_prime_UTR_variant ESCA-CN 10 128202435 128202435 single base substitution T C exon_variant ESCA-CN 10 128202435 128202435 single base substitution T C synonymous_variant A129A 387A>G ESCA-CN 10 128202435 128202435 single base substitution T C synonymous_variant A32A 96A>G ESCA-CN 10 128209769 128209769 single base substitution T C intron_variant ESCA-CN 10 128209769 128209769 single base substitution T C upstream_gene_variant ESCA-CN 10 128209797 128209797 single base substitution C T intron_variant ESCA-CN 10 128209797 128209797 single base substitution C T upstream_gene_variant KIRP-US 10 128147735 128147735 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant KIRP-US 10 128147735 128147735 single base substitution G A synonymous_variant L133L 397C>T KIRP-US 10 128147735 128147735 single base substitution G A synonymous_variant L494L 1480C>T KIRP-US 10 128147735 128147735 single base substitution G A synonymous_variant L544L 1630C>T KIRP-US 10 128147735 128147735 single base substitution G A synonymous_variant L591L 1771C>T KIRP-US 10 128147735 128147735 single base substitution G A synonymous_variant L688L 2062C>T KIRP-US 10 128193076 128193076 single base substitution C G downstream_gene_variant KIRP-US 10 128193076 128193076 single base substitution C G exon_variant KIRP-US 10 128193076 128193076 single base substitution C G missense_variant E184D 552G>C KIRP-US 10 128193076 128193076 single base substitution C G missense_variant E231D 693G>C KIRP-US 10 128193076 128193076 single base substitution C G missense_variant E328D 984G>C KIRP-US 10 128193076 128193076 single base substitution C G upstream_gene_variant LAML-KR 10 128118374 128118374 single base substitution A G missense_variant M190T 569T>C LAML-KR 10 128118374 128118374 single base substitution A G missense_variant M52T 155T>C LAML-KR 10 128118374 128118374 single base substitution A G missense_variant M551T 1652T>C LAML-KR 10 128118374 128118374 single base substitution A G missense_variant M601T 1802T>C LAML-KR 10 128118374 128118374 single base substitution A G missense_variant M648T 1943T>C LAML-KR 10 128118374 128118374 single base substitution A G missense_variant M745T 2234T>C LAML-KR 10 128245574 128245574 single base substitution C A intron_variant LAML-KR 10 128351323 128351323 single base substitution T G intron_variant LAML-KR 10 128360318 128360318 single base substitution T C upstream_gene_variant LAML-KR 10 128361367 128361367 single base substitution A C upstream_gene_variant LICA-CN 10 128149970 128149970 single base substitution T G missense_variant Q115H 345A>C LICA-CN 10 128149970 128149970 single base substitution T G missense_variant Q476H 1428A>C LICA-CN 10 128149970 128149970 single base substitution T G missense_variant Q526H 1578A>C LICA-CN 10 128149970 128149970 single base substitution T G missense_variant Q573H 1719A>C LICA-CN 10 128149970 128149970 single base substitution T G missense_variant Q670H 2010A>C LICA-CN 10 128149970 128149970 single base substitution T G splice_region_variant LICA-FR 10 128121929 128121929 single base substitution T A intron_variant LICA-FR 10 128124993 128124993 single base substitution T C intron_variant LICA-FR 10 128137578 128137578 single base substitution G A intron_variant LICA-FR 10 128139071 128139071 single base substitution C A intron_variant LICA-FR 10 128139622 128139622 insertion of <=200bp - A intron_variant LICA-FR 10 128149994 128149994 single base substitution C T 5_prime_UTR_variant LICA-FR 10 128149994 128149994 single base substitution C T synonymous_variant T107T 321G>A LICA-FR 10 128149994 128149994 single base substitution C T synonymous_variant T468T 1404G>A LICA-FR 10 128149994 128149994 single base substitution C T synonymous_variant T518T 1554G>A LICA-FR 10 128149994 128149994 single base substitution C T synonymous_variant T565T 1695G>A LICA-FR 10 128149994 128149994 single base substitution C T synonymous_variant T662T 1986G>A LICA-FR 10 128149999 128149999 single base substitution G A 5_prime_UTR_variant LICA-FR 10 128149999 128149999 single base substitution G A stop_gained Q106* 316C>T LICA-FR 10 128149999 128149999 single base substitution G A stop_gained Q467* 1399C>T LICA-FR 10 128149999 128149999 single base substitution G A stop_gained Q517* 1549C>T LICA-FR 10 128149999 128149999 single base substitution G A stop_gained Q564* 1690C>T LICA-FR 10 128149999 128149999 single base substitution G A stop_gained Q661* 1981C>T LICA-FR 10 128150145 128150145 single base substitution G A 5_prime_UTR_variant LICA-FR 10 128150145 128150145 single base substitution G A missense_variant T418I 1253C>T LICA-FR 10 128150145 128150145 single base substitution G A missense_variant T468I 1403C>T LICA-FR 10 128150145 128150145 single base substitution G A missense_variant T515I 1544C>T LICA-FR 10 128150145 128150145 single base substitution G A missense_variant T57I 170C>T LICA-FR 10 128150145 128150145 single base substitution G A missense_variant T612I 1835C>T LICA-FR 10 128150887 128150887 single base substitution A T intron_variant LICA-FR 10 128153364 128153364 single base substitution G A intron_variant LICA-FR 10 128153364 128153364 single base substitution G A missense_variant P432S 1294C>T LICA-FR 10 128153364 128153364 single base substitution G A missense_variant P479S 1435C>T LICA-FR 10 128153364 128153364 single base substitution G A missense_variant P576S 1726C>T LICA-FR 10 128153364 128153364 single base substitution G A upstream_gene_variant LICA-FR 10 128171436 128171436 single base substitution G A intron_variant LICA-FR 10 128192835 128192835 single base substitution T C downstream_gene_variant LICA-FR 10 128192835 128192835 single base substitution T C exon_variant LICA-FR 10 128192835 128192835 single base substitution T C missense_variant R265G 793A>G LICA-FR 10 128192835 128192835 single base substitution T C missense_variant R312G 934A>G LICA-FR 10 128192835 128192835 single base substitution T C missense_variant R409G 1225A>G LICA-FR 10 128192835 128192835 single base substitution T C upstream_gene_variant LICA-FR 10 128193034 128193034 single base substitution C T downstream_gene_variant LICA-FR 10 128193034 128193034 single base substitution C T exon_variant LICA-FR 10 128193034 128193034 single base substitution C T synonymous_variant P198P 594G>A LICA-FR 10 128193034 128193034 single base substitution C T synonymous_variant P245P 735G>A LICA-FR 10 128193034 128193034 single base substitution C T synonymous_variant P342P 1026G>A LICA-FR 10 128193034 128193034 single base substitution C T upstream_gene_variant LICA-FR 10 128193312 128193312 single base substitution C T downstream_gene_variant LICA-FR 10 128193312 128193312 single base substitution C T exon_variant LICA-FR 10 128193312 128193312 single base substitution C T missense_variant A106T 316G>A LICA-FR 10 128193312 128193312 single base substitution C T missense_variant A153T 457G>A LICA-FR 10 128193312 128193312 single base substitution C T missense_variant A250T 748G>A LICA-FR 10 128193312 128193312 single base substitution C T upstream_gene_variant LICA-FR 10 128193644 128193644 single base substitution G A 3_prime_UTR_variant LICA-FR 10 128193644 128193644 single base substitution G A 5_prime_UTR_variant LICA-FR 10 128193644 128193644 single base substitution G A exon_variant LICA-FR 10 128193644 128193644 single base substitution G A missense_variant A139V 416C>T LICA-FR 10 128193644 128193644 single base substitution G A missense_variant A42V 125C>T LICA-FR 10 128193644 128193644 single base substitution G A upstream_gene_variant LICA-FR 10 128196070 128196070 insertion of <=200bp - A intron_variant LICA-FR 10 128196070 128196070 insertion of <=200bp - A upstream_gene_variant LICA-FR 10 128202847 128202847 single base substitution T G intron_variant LICA-FR 10 128206739 128206739 single base substitution C G intron_variant LICA-FR 10 128236068 128236068 deletion of <=200bp A - intron_variant LICA-FR 10 128238065 128238065 single base substitution A T intron_variant LICA-FR 10 128244250 128244250 insertion of <=200bp - TAAATAAATAAA intron_variant LICA-FR 10 128246276 128246276 single base substitution T A intron_variant LICA-FR 10 128275055 128275055 single base substitution T C intron_variant LICA-FR 10 128275313 128275313 single base substitution A T intron_variant LICA-FR 10 128277352 128277352 single base substitution G T intron_variant LICA-FR 10 128278731 128278731 single base substitution C G intron_variant LICA-FR 10 128280073 128280073 single base substitution T C intron_variant LICA-FR 10 128281156 128281156 single base substitution A G intron_variant LICA-FR 10 128286321 128286321 single base substitution T C intron_variant LICA-FR 10 128301291 128301291 single base substitution C G intron_variant LICA-FR 10 128309403 128309403 single base substitution T C intron_variant LICA-FR 10 128312622 128312622 single base substitution A C intron_variant LICA-FR 10 128323141 128323141 single base substitution C T intron_variant LICA-FR 10 128328780 128328780 single base substitution C A intron_variant LICA-FR 10 128329889 128329889 single base substitution G T intron_variant LICA-FR 10 128331075 128331075 single base substitution T C intron_variant LICA-FR 10 128353424 128353424 single base substitution A G intron_variant LICA-FR 10 128357385 128357385 single base substitution T C intron_variant LIHC-US 10 128118392 128118392 single base substitution C T missense_variant C184Y 551G>A LIHC-US 10 128118392 128118392 single base substitution C T missense_variant C46Y 137G>A LIHC-US 10 128118392 128118392 single base substitution C T missense_variant C545Y 1634G>A LIHC-US 10 128118392 128118392 single base substitution C T missense_variant C595Y 1784G>A LIHC-US 10 128118392 128118392 single base substitution C T missense_variant C642Y 1925G>A LIHC-US 10 128118392 128118392 single base substitution C T missense_variant C739Y 2216G>A LIHC-US 10 128193357 128193357 single base substitution C A downstream_gene_variant LIHC-US 10 128193357 128193357 single base substitution C A exon_variant LIHC-US 10 128193357 128193357 single base substitution C A missense_variant A138S 412G>T LIHC-US 10 128193357 128193357 single base substitution C A missense_variant A235S 703G>T LIHC-US 10 128193357 128193357 single base substitution C A missense_variant A91S 271G>T LIHC-US 10 128193357 128193357 single base substitution C A upstream_gene_variant LINC-JP 10 128108900 128108900 single base substitution C T downstream_gene_variant LINC-JP 10 128109519 128109519 single base substitution C A downstream_gene_variant LINC-JP 10 128109710 128109710 single base substitution T C downstream_gene_variant LINC-JP 10 128114594 128114594 single base substitution T C downstream_gene_variant LINC-JP 10 128114594 128114594 single base substitution T C missense_variant Q218R 653A>G LINC-JP 10 128114594 128114594 single base substitution T C missense_variant Q579R 1736A>G LINC-JP 10 128114594 128114594 single base substitution T C missense_variant Q629R 1886A>G LINC-JP 10 128114594 128114594 single base substitution T C missense_variant Q676R 2027A>G LINC-JP 10 128114594 128114594 single base substitution T C missense_variant Q773R 2318A>G LINC-JP 10 128114594 128114594 single base substitution T C missense_variant Q80R 239A>G LINC-JP 10 128114725 128114725 single base substitution T C intron_variant LINC-JP 10 128116212 128116212 single base substitution C T intron_variant LINC-JP 10 128118186 128118186 single base substitution A G intron_variant LINC-JP 10 128124303 128124303 single base substitution C T intron_variant LINC-JP 10 128130632 128130632 single base substitution A C intron_variant LINC-JP 10 128138239 128138239 single base substitution C A intron_variant LINC-JP 10 128141723 128141723 single base substitution C G intron_variant LINC-JP 10 128144408 128144408 single base substitution A G intron_variant LINC-JP 10 128148035 128148035 single base substitution A T intron_variant LINC-JP 10 128151832 128151832 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 10 128151832 128151832 single base substitution C A intron_variant LINC-JP 10 128152144 128152144 single base substitution C T intron_variant LINC-JP 10 128152144 128152144 single base substitution C T upstream_gene_variant LINC-JP 10 128152918 128152918 single base substitution A C intron_variant LINC-JP 10 128152918 128152918 single base substitution A C upstream_gene_variant LINC-JP 10 128153238 128153238 single base substitution A T intron_variant LINC-JP 10 128153238 128153238 single base substitution A T upstream_gene_variant LINC-JP 10 128157251 128157251 single base substitution T G intron_variant LINC-JP 10 128158356 128158356 single base substitution A G intron_variant LINC-JP 10 128163954 128163954 single base substitution G A intron_variant LINC-JP 10 128165741 128165741 single base substitution G A intron_variant LINC-JP 10 128172011 128172011 single base substitution A G intron_variant LINC-JP 10 128177241 128177241 single base substitution A G intron_variant LINC-JP 10 128181697 128181697 single base substitution A G intron_variant LINC-JP 10 128183564 128183564 single base substitution T C intron_variant LINC-JP 10 128191311 128191311 single base substitution A G downstream_gene_variant LINC-JP 10 128191311 128191311 single base substitution A G exon_variant LINC-JP 10 128191311 128191311 single base substitution A G intron_variant LINC-JP 10 128193790 128193790 single base substitution C A intron_variant LINC-JP 10 128193790 128193790 single base substitution C A upstream_gene_variant LINC-JP 10 128195232 128195232 single base substitution G C intron_variant LINC-JP 10 128195232 128195232 single base substitution G C upstream_gene_variant LINC-JP 10 128202194 128202194 single base substitution A G intron_variant LINC-JP 10 128208901 128208917 deletion of <=200bp ACTCAAATGCAAGGGAT - 5_prime_UTR_variant LINC-JP 10 128208901 128208917 deletion of <=200bp ACTCAAATGCAAGGGAT - intron_variant LINC-JP 10 128227354 128227354 single base substitution G A intron_variant LINC-JP 10 128231348 128231348 single base substitution T C intron_variant LINC-JP 10 128234927 128234927 single base substitution C G intron_variant LINC-JP 10 128247756 128247756 single base substitution T G intron_variant LINC-JP 10 128249396 128249396 single base substitution T G intron_variant LINC-JP 10 128250512 128250512 single base substitution G T intron_variant LINC-JP 10 128251936 128251936 single base substitution C A intron_variant LINC-JP 10 128262341 128262341 single base substitution A T intron_variant LINC-JP 10 128266034 128266034 single base substitution C A intron_variant LINC-JP 10 128267199 128267199 single base substitution G A intron_variant LINC-JP 10 128267825 128267828 deletion of <=200bp TTTC - intron_variant LINC-JP 10 128282018 128282018 single base substitution T G intron_variant LINC-JP 10 128285593 128285593 single base substitution G A intron_variant LINC-JP 10 128287815 128287815 single base substitution G T intron_variant LINC-JP 10 128296898 128296898 single base substitution C G intron_variant LINC-JP 10 128297375 128297375 single base substitution T C intron_variant LINC-JP 10 128297444 128297444 single base substitution C A intron_variant LINC-JP 10 128297913 128297913 single base substitution A G intron_variant LINC-JP 10 128300869 128300869 single base substitution G T intron_variant LINC-JP 10 128300870 128300870 single base substitution A T intron_variant LINC-JP 10 128306559 128306559 single base substitution A G intron_variant LINC-JP 10 128333951 128333951 single base substitution A T intron_variant LINC-JP 10 128335092 128335092 single base substitution G T intron_variant LINC-JP 10 128335862 128335862 single base substitution C G intron_variant LINC-JP 10 128343258 128343258 single base substitution G A intron_variant LINC-JP 10 128344505 128344505 single base substitution C A intron_variant LINC-JP 10 128344696 128344696 single base substitution A T intron_variant LINC-JP 10 128349239 128349239 single base substitution C A intron_variant LINC-JP 10 128359225 128359225 single base substitution A T upstream_gene_variant LIRI-JP 10 128111497 128111497 single base substitution C A downstream_gene_variant LIRI-JP 10 128112024 128112024 single base substitution C A downstream_gene_variant LIRI-JP 10 128113252 128113252 single base substitution G A downstream_gene_variant LIRI-JP 10 128113728 128113728 deletion of <=200bp T - 3_prime_UTR_variant LIRI-JP 10 128113728 128113728 deletion of <=200bp T - downstream_gene_variant LIRI-JP 10 128114058 128114058 single base substitution G A 3_prime_UTR_variant LIRI-JP 10 128114058 128114058 single base substitution G A downstream_gene_variant LIRI-JP 10 128114189 128114189 insertion of <=200bp - T 3_prime_UTR_variant LIRI-JP 10 128114189 128114189 insertion of <=200bp - T downstream_gene_variant LIRI-JP 10 128114576 128114576 single base substitution G T downstream_gene_variant LIRI-JP 10 128114576 128114576 single base substitution G T missense_variant A224D 671C>A LIRI-JP 10 128114576 128114576 single base substitution G T missense_variant A585D 1754C>A LIRI-JP 10 128114576 128114576 single base substitution G T missense_variant A635D 1904C>A LIRI-JP 10 128114576 128114576 single base substitution G T missense_variant A682D 2045C>A LIRI-JP 10 128114576 128114576 single base substitution G T missense_variant A779D 2336C>A LIRI-JP 10 128114576 128114576 single base substitution G T missense_variant A86D 257C>A LIRI-JP 10 128116171 128116171 single base substitution C A intron_variant LIRI-JP 10 128117856 128117856 single base substitution G C intron_variant LIRI-JP 10 128117998 128117998 single base substitution T C intron_variant LIRI-JP 10 128118344 128118344 single base substitution A T intron_variant LIRI-JP 10 128119367 128119367 single base substitution A G intron_variant LIRI-JP 10 128120221 128120221 deletion of <=200bp T - intron_variant LIRI-JP 10 128120457 128120457 single base substitution T G intron_variant LIRI-JP 10 128120535 128120535 single base substitution G A intron_variant LIRI-JP 10 128121684 128121684 single base substitution C G intron_variant LIRI-JP 10 128121983 128121983 single base substitution T C intron_variant LIRI-JP 10 128123581 128123581 single base substitution G A intron_variant LIRI-JP 10 128125234 128125234 single base substitution A G intron_variant LIRI-JP 10 128125272 128125272 single base substitution C T intron_variant LIRI-JP 10 128125771 128125771 single base substitution T C intron_variant LIRI-JP 10 128128094 128128094 single base substitution G A intron_variant LIRI-JP 10 128128588 128128588 single base substitution C T intron_variant LIRI-JP 10 128128594 128128594 single base substitution A T intron_variant LIRI-JP 10 128129495 128129495 single base substitution C A intron_variant LIRI-JP 10 128129687 128129687 single base substitution C A intron_variant LIRI-JP 10 128130046 128130046 single base substitution A T intron_variant LIRI-JP 10 128130167 128130167 single base substitution T G intron_variant LIRI-JP 10 128130359 128130359 single base substitution T A intron_variant LIRI-JP 10 128130364 128130364 single base substitution A G intron_variant LIRI-JP 10 128130405 128130405 single base substitution A G intron_variant LIRI-JP 10 128130428 128130428 single base substitution A T intron_variant LIRI-JP 10 128130528 128130528 single base substitution C A intron_variant LIRI-JP 10 128131119 128131119 single base substitution G T intron_variant LIRI-JP 10 128133333 128133333 single base substitution T C intron_variant LIRI-JP 10 128133520 128133520 single base substitution G A intron_variant LIRI-JP 10 128133925 128133925 single base substitution A C intron_variant LIRI-JP 10 128134665 128134665 single base substitution C T intron_variant LIRI-JP 10 128134819 128134819 single base substitution G A intron_variant LIRI-JP 10 128136452 128136452 single base substitution T G intron_variant LIRI-JP 10 128138744 128138744 single base substitution T C intron_variant LIRI-JP 10 128139206 128139206 single base substitution C A intron_variant LIRI-JP 10 128139898 128139898 single base substitution T C intron_variant LIRI-JP 10 128142062 128142062 single base substitution G A intron_variant LIRI-JP 10 128142546 128142546 single base substitution T C intron_variant LIRI-JP 10 128142887 128142887 single base substitution C T intron_variant LIRI-JP 10 128143755 128143755 single base substitution A G intron_variant LIRI-JP 10 128144414 128144414 single base substitution T A intron_variant LIRI-JP 10 128144630 128144630 single base substitution A G intron_variant LIRI-JP 10 128145297 128145297 single base substitution G T intron_variant LIRI-JP 10 128146153 128146153 single base substitution G C intron_variant LIRI-JP 10 128147142 128147142 single base substitution C T intron_variant LIRI-JP 10 128147532 128147532 single base substitution C A intron_variant LIRI-JP 10 128148352 128148352 single base substitution T C intron_variant LIRI-JP 10 128149592 128149592 single base substitution G T intron_variant LIRI-JP 10 128149659 128149659 single base substitution G T intron_variant LIRI-JP 10 128149674 128149674 single base substitution A T intron_variant LIRI-JP 10 128151309 128151309 single base substitution C T intron_variant LIRI-JP 10 128152175 128152175 single base substitution C T intron_variant LIRI-JP 10 128152175 128152175 single base substitution C T upstream_gene_variant LIRI-JP 10 128155008 128155008 deletion of <=200bp G - intron_variant LIRI-JP 10 128155008 128155008 deletion of <=200bp G - upstream_gene_variant LIRI-JP 10 128155016 128155016 single base substitution G C intron_variant LIRI-JP 10 128155016 128155016 single base substitution G C upstream_gene_variant LIRI-JP 10 128155188 128155188 single base substitution A C intron_variant LIRI-JP 10 128155188 128155188 single base substitution A C upstream_gene_variant LIRI-JP 10 128157465 128157465 single base substitution A G intron_variant LIRI-JP 10 128157972 128157972 single base substitution C A intron_variant LIRI-JP 10 128158455 128158455 single base substitution G T intron_variant LIRI-JP 10 128158922 128158922 single base substitution A G intron_variant LIRI-JP 10 128159122 128159122 single base substitution G T intron_variant LIRI-JP 10 128159171 128159171 single base substitution T A intron_variant LIRI-JP 10 128159173 128159173 single base substitution G A intron_variant LIRI-JP 10 128159782 128159782 single base substitution G A intron_variant LIRI-JP 10 128160789 128160789 single base substitution G A intron_variant LIRI-JP 10 128160889 128160889 single base substitution T C intron_variant LIRI-JP 10 128161212 128161212 single base substitution A T intron_variant LIRI-JP 10 128162231 128162231 single base substitution A G intron_variant LIRI-JP 10 128162959 128162959 deletion of <=200bp C - intron_variant LIRI-JP 10 128163250 128163250 single base substitution G A intron_variant LIRI-JP 10 128163475 128163475 single base substitution C T intron_variant LIRI-JP 10 128163495 128163495 single base substitution C T intron_variant LIRI-JP 10 128164909 128164909 single base substitution A G intron_variant LIRI-JP 10 128165563 128165563 single base substitution C G intron_variant LIRI-JP 10 128165813 128165813 single base substitution T C intron_variant LIRI-JP 10 128167132 128167132 single base substitution G T intron_variant LIRI-JP 10 128167521 128167521 single base substitution C T intron_variant LIRI-JP 10 128167541 128167541 single base substitution T C intron_variant LIRI-JP 10 128168141 128168141 single base substitution C A intron_variant LIRI-JP 10 128170524 128170524 single base substitution C A intron_variant LIRI-JP 10 128171369 128171369 single base substitution A G intron_variant LIRI-JP 10 128171446 128171446 single base substitution C A intron_variant LIRI-JP 10 128171720 128171731 deletion of <=200bp GCCTGTGGCCAG - intron_variant LIRI-JP 10 128173329 128173329 single base substitution C A intron_variant LIRI-JP 10 128174275 128174275 single base substitution C T intron_variant LIRI-JP 10 128174981 128174981 single base substitution T G intron_variant LIRI-JP 10 128177064 128177064 single base substitution A G intron_variant LIRI-JP 10 128179300 128179300 single base substitution G A intron_variant LIRI-JP 10 128179653 128179653 single base substitution T A intron_variant LIRI-JP 10 128180655 128180655 single base substitution A C intron_variant LIRI-JP 10 128180700 128180700 single base substitution A C intron_variant LIRI-JP 10 128181431 128181431 single base substitution T A intron_variant LIRI-JP 10 128181459 128181459 single base substitution T C intron_variant LIRI-JP 10 128183111 128183111 single base substitution A G intron_variant LIRI-JP 10 128183482 128183482 single base substitution T A intron_variant LIRI-JP 10 128184511 128184511 single base substitution C G intron_variant LIRI-JP 10 128187358 128187358 single base substitution C A downstream_gene_variant LIRI-JP 10 128187358 128187358 single base substitution C A intron_variant LIRI-JP 10 128188300 128188300 single base substitution A G downstream_gene_variant LIRI-JP 10 128188300 128188300 single base substitution A G intron_variant LIRI-JP 10 128188498 128188498 single base substitution A T downstream_gene_variant LIRI-JP 10 128188498 128188498 single base substitution A T intron_variant LIRI-JP 10 128188543 128188543 single base substitution A G downstream_gene_variant LIRI-JP 10 128188543 128188543 single base substitution A G intron_variant LIRI-JP 10 128193616 128193616 deletion of <=200bp G - 3_prime_UTR_variant LIRI-JP 10 128193616 128193616 deletion of <=200bp G - exon_variant LIRI-JP 10 128193616 128193616 deletion of <=200bp G - frameshift_variant S148 LIRI-JP 10 128193616 128193616 deletion of <=200bp G - frameshift_variant S4 LIRI-JP 10 128193616 128193616 deletion of <=200bp G - frameshift_variant S51 LIRI-JP 10 128193616 128193616 deletion of <=200bp G - upstream_gene_variant LIRI-JP 10 128194666 128194666 single base substitution C T intron_variant LIRI-JP 10 128194666 128194666 single base substitution C T upstream_gene_variant LIRI-JP 10 128195086 128195086 single base substitution C T intron_variant LIRI-JP 10 128195086 128195086 single base substitution C T upstream_gene_variant LIRI-JP 10 128195211 128195211 single base substitution A G intron_variant LIRI-JP 10 128195211 128195211 single base substitution A G upstream_gene_variant LIRI-JP 10 128196245 128196245 single base substitution C T intron_variant LIRI-JP 10 128196245 128196245 single base substitution C T upstream_gene_variant LIRI-JP 10 128196333 128196333 single base substitution G T intron_variant LIRI-JP 10 128196333 128196333 single base substitution G T upstream_gene_variant LIRI-JP 10 128197650 128197650 single base substitution C T intron_variant LIRI-JP 10 128197650 128197650 single base substitution C T upstream_gene_variant LIRI-JP 10 128198735 128198735 single base substitution T C intron_variant LIRI-JP 10 128199322 128199322 single base substitution T C intron_variant LIRI-JP 10 128199437 128199437 single base substitution A G intron_variant LIRI-JP 10 128200313 128200313 single base substitution C A intron_variant LIRI-JP 10 128200575 128200575 single base substitution A T intron_variant LIRI-JP 10 128201996 128201996 single base substitution C T intron_variant LIRI-JP 10 128203305 128203305 single base substitution C A intron_variant LIRI-JP 10 128203360 128203360 single base substitution C A intron_variant LIRI-JP 10 128203541 128203541 single base substitution G C intron_variant LIRI-JP 10 128204308 128204308 single base substitution T C intron_variant LIRI-JP 10 128204492 128204492 single base substitution G T intron_variant LIRI-JP 10 128206515 128206515 single base substitution G T intron_variant LIRI-JP 10 128206665 128206665 single base substitution G A intron_variant LIRI-JP 10 128207183 128207183 single base substitution C A intron_variant LIRI-JP 10 128207691 128207691 single base substitution A G intron_variant LIRI-JP 10 128209528 128209528 single base substitution T A intron_variant LIRI-JP 10 128209528 128209528 single base substitution T A upstream_gene_variant LIRI-JP 10 128210404 128210404 single base substitution T C intron_variant LIRI-JP 10 128210404 128210404 single base substitution T C upstream_gene_variant LIRI-JP 10 128210426 128210426 single base substitution C A intron_variant LIRI-JP 10 128210426 128210426 single base substitution C A upstream_gene_variant LIRI-JP 10 128211184 128211184 single base substitution C T intron_variant LIRI-JP 10 128211184 128211184 single base substitution C T upstream_gene_variant LIRI-JP 10 128215089 128215089 single base substitution A C intron_variant LIRI-JP 10 128215089 128215089 single base substitution A C upstream_gene_variant LIRI-JP 10 128215579 128215579 single base substitution C A intron_variant LIRI-JP 10 128215579 128215579 single base substitution C A upstream_gene_variant LIRI-JP 10 128215838 128215838 single base substitution G T intron_variant LIRI-JP 10 128215838 128215838 single base substitution G T upstream_gene_variant LIRI-JP 10 128216492 128216492 single base substitution T C intron_variant LIRI-JP 10 128216492 128216492 single base substitution T C upstream_gene_variant LIRI-JP 10 128216919 128216919 single base substitution A C intron_variant LIRI-JP 10 128216919 128216919 single base substitution A C upstream_gene_variant LIRI-JP 10 128216921 128216921 single base substitution G A intron_variant LIRI-JP 10 128216921 128216921 single base substitution G A upstream_gene_variant LIRI-JP 10 128217454 128217454 single base substitution A G intron_variant LIRI-JP 10 128217454 128217454 single base substitution A G upstream_gene_variant LIRI-JP 10 128217479 128217479 single base substitution T A intron_variant LIRI-JP 10 128217479 128217479 single base substitution T A upstream_gene_variant LIRI-JP 10 128217851 128217851 single base substitution T C intron_variant LIRI-JP 10 128217851 128217851 single base substitution T C upstream_gene_variant LIRI-JP 10 128218998 128218998 single base substitution T C intron_variant LIRI-JP 10 128220562 128220562 single base substitution T C intron_variant LIRI-JP 10 128220577 128220577 single base substitution A G intron_variant LIRI-JP 10 128221541 128221541 single base substitution G A intron_variant LIRI-JP 10 128222648 128222648 single base substitution T A intron_variant LIRI-JP 10 128222648 128222648 single base substitution T C intron_variant LIRI-JP 10 128223030 128223030 single base substitution C A intron_variant LIRI-JP 10 128223136 128223136 single base substitution C A intron_variant LIRI-JP 10 128223646 128223646 single base substitution G A intron_variant LIRI-JP 10 128224003 128224003 single base substitution G A intron_variant LIRI-JP 10 128224627 128224627 single base substitution C A intron_variant LIRI-JP 10 128224778 128224778 single base substitution A G intron_variant LIRI-JP 10 128224861 128224861 single base substitution C A intron_variant LIRI-JP 10 128225747 128225747 single base substitution A G intron_variant LIRI-JP 10 128225990 128225990 single base substitution T C intron_variant LIRI-JP 10 128226115 128226115 single base substitution C T intron_variant LIRI-JP 10 128226401 128226401 single base substitution A T intron_variant LIRI-JP 10 128226578 128226578 single base substitution G C intron_variant LIRI-JP 10 128227203 128227203 single base substitution C A intron_variant LIRI-JP 10 128227484 128227484 single base substitution G T intron_variant LIRI-JP 10 128227617 128227617 single base substitution A G intron_variant LIRI-JP 10 128228315 128228315 single base substitution T C intron_variant LIRI-JP 10 128228485 128228485 single base substitution C A intron_variant LIRI-JP 10 128229117 128229117 single base substitution A G intron_variant LIRI-JP 10 128230305 128230305 single base substitution A G intron_variant LIRI-JP 10 128230324 128230324 single base substitution G C intron_variant LIRI-JP 10 128230854 128230854 single base substitution T G intron_variant LIRI-JP 10 128231703 128231703 single base substitution T C intron_variant LIRI-JP 10 128231849 128231849 single base substitution A T intron_variant LIRI-JP 10 128232065 128232065 single base substitution A G intron_variant LIRI-JP 10 128232102 128232102 single base substitution C T intron_variant LIRI-JP 10 128233126 128233126 single base substitution C T intron_variant LIRI-JP 10 128234463 128234463 single base substitution G A intron_variant LIRI-JP 10 128234903 128234903 single base substitution G C intron_variant LIRI-JP 10 128235031 128235031 single base substitution C T intron_variant LIRI-JP 10 128235531 128235531 single base substitution T C intron_variant LIRI-JP 10 128235868 128235868 single base substitution G A intron_variant LIRI-JP 10 128235947 128235947 single base substitution C T intron_variant LIRI-JP 10 128236377 128236377 single base substitution A T intron_variant LIRI-JP 10 128236962 128236962 single base substitution T C intron_variant LIRI-JP 10 128237141 128237141 single base substitution G A intron_variant LIRI-JP 10 128237465 128237465 single base substitution A G intron_variant LIRI-JP 10 128238080 128238080 single base substitution C T intron_variant LIRI-JP 10 128238173 128238173 single base substitution G T intron_variant LIRI-JP 10 128238174 128238174 single base substitution C T intron_variant LIRI-JP 10 128238344 128238344 single base substitution C T intron_variant LIRI-JP 10 128239416 128239416 single base substitution A G intron_variant LIRI-JP 10 128240288 128240288 single base substitution A C intron_variant LIRI-JP 10 128245007 128245007 single base substitution A G intron_variant LIRI-JP 10 128247277 128247277 single base substitution G A intron_variant LIRI-JP 10 128248142 128248142 single base substitution C A intron_variant LIRI-JP 10 128249415 128249415 single base substitution G T intron_variant LIRI-JP 10 128250260 128250260 single base substitution T A intron_variant LIRI-JP 10 128252084 128252084 single base substitution A T intron_variant LIRI-JP 10 128252403 128252403 single base substitution T C intron_variant LIRI-JP 10 128254153 128254153 single base substitution G T intron_variant LIRI-JP 10 128254830 128254830 single base substitution T C intron_variant LIRI-JP 10 128254947 128254947 single base substitution T A intron_variant LIRI-JP 10 128256079 128256079 single base substitution T C intron_variant LIRI-JP 10 128257743 128257743 single base substitution C T intron_variant LIRI-JP 10 128257862 128257862 single base substitution A T intron_variant LIRI-JP 10 128259616 128259616 single base substitution G T intron_variant LIRI-JP 10 128259935 128259935 single base substitution G T intron_variant LIRI-JP 10 128260394 128260394 single base substitution A G intron_variant LIRI-JP 10 128260715 128260715 single base substitution C T intron_variant LIRI-JP 10 128261022 128261022 single base substitution T A intron_variant LIRI-JP 10 128262135 128262135 single base substitution G T intron_variant LIRI-JP 10 128264016 128264016 single base substitution C T intron_variant LIRI-JP 10 128264157 128264157 single base substitution T A intron_variant LIRI-JP 10 128265498 128265498 single base substitution T A intron_variant LIRI-JP 10 128266252 128266252 single base substitution A T intron_variant LIRI-JP 10 128266309 128266309 single base substitution A T intron_variant LIRI-JP 10 128266653 128266653 single base substitution A G intron_variant LIRI-JP 10 128267568 128267568 single base substitution C G intron_variant LIRI-JP 10 128268361 128268361 single base substitution C G intron_variant LIRI-JP 10 128268411 128268411 single base substitution A G intron_variant LIRI-JP 10 128268669 128268669 single base substitution G T intron_variant LIRI-JP 10 128269151 128269151 single base substitution G T intron_variant LIRI-JP 10 128269152 128269152 single base substitution G C intron_variant LIRI-JP 10 128269447 128269447 single base substitution T C intron_variant LIRI-JP 10 128271496 128271496 single base substitution G T intron_variant LIRI-JP 10 128271907 128271907 single base substitution A C intron_variant LIRI-JP 10 128273775 128273775 single base substitution G A intron_variant LIRI-JP 10 128276282 128276282 single base substitution A G intron_variant LIRI-JP 10 128276306 128276306 single base substitution T C intron_variant LIRI-JP 10 128276320 128276320 single base substitution T C intron_variant LIRI-JP 10 128276399 128276399 single base substitution T A intron_variant LIRI-JP 10 128277948 128277948 single base substitution G A intron_variant LIRI-JP 10 128278603 128278603 single base substitution G A intron_variant LIRI-JP 10 128279625 128279625 single base substitution G A intron_variant LIRI-JP 10 128279877 128279877 single base substitution G T intron_variant LIRI-JP 10 128282304 128282304 single base substitution T C intron_variant LIRI-JP 10 128282314 128282314 single base substitution C A intron_variant LIRI-JP 10 128283237 128283237 single base substitution C G intron_variant LIRI-JP 10 128283559 128283559 single base substitution A G intron_variant LIRI-JP 10 128283677 128283677 single base substitution T A intron_variant LIRI-JP 10 128283755 128283755 single base substitution A T intron_variant LIRI-JP 10 128284317 128284317 single base substitution C A intron_variant LIRI-JP 10 128284678 128284678 single base substitution G A intron_variant LIRI-JP 10 128285149 128285149 single base substitution G T intron_variant LIRI-JP 10 128288433 128288433 single base substitution G A intron_variant LIRI-JP 10 128288855 128288855 single base substitution A G intron_variant LIRI-JP 10 128290922 128290922 single base substitution C T intron_variant LIRI-JP 10 128290929 128290929 single base substitution T C intron_variant LIRI-JP 10 128291419 128291419 single base substitution T C intron_variant LIRI-JP 10 128293474 128293476 deletion of <=200bp TGT - intron_variant LIRI-JP 10 128293479 128293479 insertion of <=200bp - GAAT intron_variant LIRI-JP 10 128294486 128294486 single base substitution G A intron_variant LIRI-JP 10 128294983 128294983 single base substitution G A intron_variant LIRI-JP 10 128295519 128295519 single base substitution G A intron_variant LIRI-JP 10 128296012 128296012 single base substitution G A intron_variant LIRI-JP 10 128296164 128296164 single base substitution G A intron_variant LIRI-JP 10 128296345 128296345 single base substitution A G intron_variant LIRI-JP 10 128296992 128296992 single base substitution A G intron_variant LIRI-JP 10 128297644 128297644 single base substitution T C intron_variant LIRI-JP 10 128297808 128297808 single base substitution T A intron_variant LIRI-JP 10 128297855 128297855 single base substitution T C intron_variant LIRI-JP 10 128300136 128300136 single base substitution A T intron_variant LIRI-JP 10 128301209 128301209 single base substitution C T intron_variant LIRI-JP 10 128301286 128301286 single base substitution C T intron_variant LIRI-JP 10 128301299 128301299 single base substitution G T intron_variant LIRI-JP 10 128303035 128303035 single base substitution A G intron_variant LIRI-JP 10 128303897 128303897 single base substitution C A intron_variant LIRI-JP 10 128303898 128303898 single base substitution C A intron_variant LIRI-JP 10 128304916 128304916 single base substitution A C intron_variant LIRI-JP 10 128306122 128306122 single base substitution A G intron_variant LIRI-JP 10 128306296 128306296 deletion of <=200bp C - intron_variant LIRI-JP 10 128307178 128307178 single base substitution T G intron_variant LIRI-JP 10 128308178 128308178 single base substitution C A intron_variant LIRI-JP 10 128308801 128308801 single base substitution T C intron_variant LIRI-JP 10 128309423 128309423 single base substitution G A intron_variant LIRI-JP 10 128309632 128309632 single base substitution T C intron_variant LIRI-JP 10 128310710 128310710 single base substitution G A intron_variant LIRI-JP 10 128310724 128310724 single base substitution C A intron_variant LIRI-JP 10 128311034 128311034 single base substitution T C intron_variant LIRI-JP 10 128311413 128311413 single base substitution T A intron_variant LIRI-JP 10 128311735 128311735 single base substitution A G intron_variant LIRI-JP 10 128312169 128312169 single base substitution G T intron_variant LIRI-JP 10 128312170 128312170 single base substitution G T intron_variant LIRI-JP 10 128314356 128314356 single base substitution A G intron_variant LIRI-JP 10 128314388 128314388 single base substitution A T intron_variant LIRI-JP 10 128314398 128314398 deletion of <=200bp G - intron_variant LIRI-JP 10 128315008 128315008 single base substitution C G intron_variant LIRI-JP 10 128319666 128319666 single base substitution G T intron_variant LIRI-JP 10 128319895 128319895 single base substitution G T intron_variant LIRI-JP 10 128319961 128319961 single base substitution A G intron_variant LIRI-JP 10 128321808 128321808 single base substitution A T intron_variant LIRI-JP 10 128323339 128323339 single base substitution T C intron_variant LIRI-JP 10 128323472 128323472 single base substitution G T intron_variant LIRI-JP 10 128323802 128323802 single base substitution T C intron_variant LIRI-JP 10 128324216 128324216 single base substitution C T intron_variant LIRI-JP 10 128324652 128324652 single base substitution G A intron_variant LIRI-JP 10 128325063 128325063 single base substitution G A intron_variant LIRI-JP 10 128325888 128325888 single base substitution G T intron_variant LIRI-JP 10 128326189 128326189 single base substitution A G intron_variant LIRI-JP 10 128326306 128326306 single base substitution G A intron_variant LIRI-JP 10 128326826 128326826 single base substitution T C intron_variant LIRI-JP 10 128327131 128327131 single base substitution C A intron_variant LIRI-JP 10 128327346 128327346 single base substitution C T intron_variant LIRI-JP 10 128328037 128328037 single base substitution G T intron_variant LIRI-JP 10 128328386 128328386 single base substitution T C intron_variant LIRI-JP 10 128328880 128328880 single base substitution G T intron_variant LIRI-JP 10 128329311 128329311 single base substitution A G intron_variant LIRI-JP 10 128330035 128330035 single base substitution C A intron_variant LIRI-JP 10 128331080 128331080 single base substitution G A intron_variant LIRI-JP 10 128331644 128331644 single base substitution G C intron_variant LIRI-JP 10 128332093 128332093 single base substitution T C intron_variant LIRI-JP 10 128334709 128334709 single base substitution C A intron_variant LIRI-JP 10 128335238 128335238 single base substitution C T intron_variant LIRI-JP 10 128335585 128335585 single base substitution T C intron_variant LIRI-JP 10 128335630 128335630 single base substitution G A intron_variant LIRI-JP 10 128336503 128336503 single base substitution T A intron_variant LIRI-JP 10 128336976 128336976 single base substitution T C intron_variant LIRI-JP 10 128337796 128337796 single base substitution T C intron_variant LIRI-JP 10 128337901 128337901 single base substitution A G intron_variant LIRI-JP 10 128337992 128337992 single base substitution C A intron_variant LIRI-JP 10 128339260 128339260 single base substitution T A intron_variant LIRI-JP 10 128339491 128339491 single base substitution G A intron_variant LIRI-JP 10 128339666 128339666 single base substitution A G intron_variant LIRI-JP 10 128339852 128339852 single base substitution G T intron_variant LIRI-JP 10 128340187 128340187 single base substitution A G intron_variant LIRI-JP 10 128340303 128340303 single base substitution G A intron_variant LIRI-JP 10 128340763 128340763 single base substitution T A intron_variant LIRI-JP 10 128340934 128340934 single base substitution C G intron_variant LIRI-JP 10 128341169 128341169 single base substitution A G intron_variant LIRI-JP 10 128341299 128341299 single base substitution G A intron_variant LIRI-JP 10 128342496 128342496 single base substitution A G intron_variant LIRI-JP 10 128343642 128343642 single base substitution C T intron_variant LIRI-JP 10 128343920 128343920 single base substitution T A intron_variant LIRI-JP 10 128344287 128344287 single base substitution T C intron_variant LIRI-JP 10 128344348 128344348 single base substitution A G intron_variant LIRI-JP 10 128345060 128345060 single base substitution C T intron_variant LIRI-JP 10 128345219 128345219 single base substitution A G intron_variant LIRI-JP 10 128345237 128345237 single base substitution G A intron_variant LIRI-JP 10 128345407 128345407 single base substitution T C intron_variant LIRI-JP 10 128345906 128345906 single base substitution G T intron_variant LIRI-JP 10 128346360 128346360 single base substitution T C intron_variant LIRI-JP 10 128347293 128347293 single base substitution T C intron_variant LIRI-JP 10 128349849 128349849 single base substitution G A intron_variant LIRI-JP 10 128350331 128350331 single base substitution A T intron_variant LIRI-JP 10 128350922 128350922 single base substitution C T intron_variant LIRI-JP 10 128351047 128351047 single base substitution G A intron_variant LIRI-JP 10 128353722 128353722 single base substitution A G intron_variant LIRI-JP 10 128354099 128354099 single base substitution A G intron_variant LIRI-JP 10 128354462 128354462 single base substitution C T intron_variant LIRI-JP 10 128357663 128357663 single base substitution T C intron_variant LIRI-JP 10 128358058 128358058 single base substitution G C intron_variant LIRI-JP 10 128358726 128358726 single base substitution A G intron_variant LIRI-JP 10 128358837 128358837 single base substitution C T 5_prime_UTR_variant LIRI-JP 10 128358837 128358837 single base substitution C T synonymous_variant T71T 213G>A LIRI-JP 10 128359528 128359528 single base substitution G A upstream_gene_variant LIRI-JP 10 128359580 128359580 single base substitution A G upstream_gene_variant LIRI-JP 10 128360835 128360835 single base substitution G T upstream_gene_variant LIRI-JP 10 128361654 128361654 single base substitution A T upstream_gene_variant LIRI-JP 10 128361702 128361702 single base substitution C G upstream_gene_variant LIRI-JP 10 128361871 128361871 single base substitution G A upstream_gene_variant LIRI-JP 10 128361943 128361943 single base substitution G T upstream_gene_variant LIRI-JP 10 128362302 128362302 single base substitution A T upstream_gene_variant LIRI-JP 10 128363373 128363373 single base substitution C T upstream_gene_variant LIRI-JP 10 128363748 128363748 single base substitution T C upstream_gene_variant LUSC-KR 10 128111097 128111097 single base substitution C T downstream_gene_variant LUSC-KR 10 128111954 128111954 single base substitution G A downstream_gene_variant LUSC-KR 10 128112914 128112914 single base substitution C T downstream_gene_variant LUSC-KR 10 128113538 128113538 single base substitution C T downstream_gene_variant LUSC-KR 10 128114498 128114498 single base substitution C T downstream_gene_variant LUSC-KR 10 128114498 128114498 single base substitution C T intron_variant LUSC-KR 10 128114498 128114498 single base substitution C T stop_retained_variant *661* 1982G>A LUSC-KR 10 128118733 128118733 single base substitution A C intron_variant LUSC-KR 10 128121405 128121405 single base substitution A G intron_variant LUSC-KR 10 128122112 128122112 single base substitution C A intron_variant LUSC-KR 10 128122264 128122264 single base substitution T G intron_variant LUSC-KR 10 128123731 128123731 single base substitution G C intron_variant LUSC-KR 10 128124136 128124136 single base substitution C A intron_variant LUSC-KR 10 128124445 128124445 single base substitution G A intron_variant LUSC-KR 10 128130791 128130791 single base substitution G A intron_variant LUSC-KR 10 128139002 128139002 single base substitution C A intron_variant LUSC-KR 10 128141737 128141737 single base substitution G T intron_variant LUSC-KR 10 128143926 128143926 single base substitution G T intron_variant LUSC-KR 10 128145620 128145620 single base substitution G T intron_variant LUSC-KR 10 128152203 128152203 single base substitution C A intron_variant LUSC-KR 10 128152203 128152203 single base substitution C A upstream_gene_variant LUSC-KR 10 128158159 128158159 single base substitution C A intron_variant LUSC-KR 10 128158310 128158310 single base substitution C T intron_variant LUSC-KR 10 128160944 128160944 single base substitution A T intron_variant LUSC-KR 10 128161913 128161913 single base substitution T A intron_variant LUSC-KR 10 128162792 128162792 single base substitution G A intron_variant LUSC-KR 10 128167047 128167047 single base substitution C A intron_variant LUSC-KR 10 128173587 128173587 single base substitution G T intron_variant LUSC-KR 10 128175400 128175400 single base substitution G T intron_variant LUSC-KR 10 128175738 128175738 single base substitution G A intron_variant LUSC-KR 10 128177008 128177008 single base substitution A G intron_variant LUSC-KR 10 128177672 128177672 single base substitution A T intron_variant LUSC-KR 10 128184060 128184060 single base substitution C G intron_variant LUSC-KR 10 128188656 128188656 single base substitution G A downstream_gene_variant LUSC-KR 10 128188656 128188656 single base substitution G A intron_variant LUSC-KR 10 128191020 128191020 single base substitution G T downstream_gene_variant LUSC-KR 10 128191020 128191020 single base substitution G T intron_variant LUSC-KR 10 128193084 128193084 single base substitution C G downstream_gene_variant LUSC-KR 10 128193084 128193084 single base substitution C G exon_variant LUSC-KR 10 128193084 128193084 single base substitution C G missense_variant D182H 544G>C LUSC-KR 10 128193084 128193084 single base substitution C G missense_variant D229H 685G>C LUSC-KR 10 128193084 128193084 single base substitution C G missense_variant D326H 976G>C LUSC-KR 10 128193084 128193084 single base substitution C G upstream_gene_variant LUSC-KR 10 128193368 128193368 single base substitution C T downstream_gene_variant LUSC-KR 10 128193368 128193368 single base substitution C T exon_variant LUSC-KR 10 128193368 128193368 single base substitution C T missense_variant R134H 401G>A LUSC-KR 10 128193368 128193368 single base substitution C T missense_variant R231H 692G>A LUSC-KR 10 128193368 128193368 single base substitution C T missense_variant R87H 260G>A LUSC-KR 10 128193368 128193368 single base substitution C T upstream_gene_variant LUSC-KR 10 128195324 128195324 single base substitution G T intron_variant LUSC-KR 10 128195324 128195324 single base substitution G T upstream_gene_variant LUSC-KR 10 128195514 128195514 single base substitution C T intron_variant LUSC-KR 10 128195514 128195514 single base substitution C T upstream_gene_variant LUSC-KR 10 128196761 128196761 single base substitution T A intron_variant LUSC-KR 10 128196761 128196761 single base substitution T A upstream_gene_variant LUSC-KR 10 128197718 128197718 single base substitution A G intron_variant LUSC-KR 10 128197839 128197839 single base substitution G C intron_variant LUSC-KR 10 128198094 128198094 single base substitution G C intron_variant LUSC-KR 10 128202283 128202283 single base substitution T C intron_variant LUSC-KR 10 128205982 128205982 single base substitution G T intron_variant LUSC-KR 10 128208045 128208045 single base substitution T A intron_variant LUSC-KR 10 128208373 128208373 single base substitution G T intron_variant LUSC-KR 10 128209107 128209107 single base substitution C T 5_prime_UTR_variant LUSC-KR 10 128209107 128209107 single base substitution C T intron_variant LUSC-KR 10 128212177 128212177 single base substitution C T intron_variant LUSC-KR 10 128212177 128212177 single base substitution C T upstream_gene_variant LUSC-KR 10 128212968 128212968 single base substitution T C intron_variant LUSC-KR 10 128212968 128212968 single base substitution T C upstream_gene_variant LUSC-KR 10 128213198 128213198 single base substitution C A exon_variant LUSC-KR 10 128213198 128213198 single base substitution C A intron_variant LUSC-KR 10 128213198 128213198 single base substitution C A upstream_gene_variant LUSC-KR 10 128213314 128213314 single base substitution C G exon_variant LUSC-KR 10 128213314 128213314 single base substitution C G intron_variant LUSC-KR 10 128213314 128213314 single base substitution C G upstream_gene_variant LUSC-KR 10 128221362 128221362 single base substitution C T intron_variant LUSC-KR 10 128221411 128221411 single base substitution C A intron_variant LUSC-KR 10 128222333 128222333 single base substitution G T intron_variant LUSC-KR 10 128223616 128223616 single base substitution G T intron_variant LUSC-KR 10 128234954 128234954 single base substitution G C intron_variant LUSC-KR 10 128237034 128237034 single base substitution C T intron_variant LUSC-KR 10 128237264 128237264 single base substitution A G intron_variant LUSC-KR 10 128238678 128238678 single base substitution C A intron_variant LUSC-KR 10 128239233 128239233 single base substitution C A intron_variant LUSC-KR 10 128240182 128240182 single base substitution C A intron_variant LUSC-KR 10 128241552 128241552 single base substitution C G intron_variant LUSC-KR 10 128243980 128243980 single base substitution G A intron_variant LUSC-KR 10 128243988 128243988 single base substitution T A intron_variant LUSC-KR 10 128245906 128245906 single base substitution T C intron_variant LUSC-KR 10 128246184 128246184 single base substitution C A intron_variant LUSC-KR 10 128246892 128246892 single base substitution C T intron_variant LUSC-KR 10 128248179 128248179 single base substitution C A intron_variant LUSC-KR 10 128249456 128249456 single base substitution T C intron_variant LUSC-KR 10 128249741 128249741 single base substitution C A intron_variant LUSC-KR 10 128250763 128250763 single base substitution C G intron_variant LUSC-KR 10 128255269 128255269 single base substitution G T intron_variant LUSC-KR 10 128257150 128257150 single base substitution A G intron_variant LUSC-KR 10 128257591 128257591 single base substitution G T intron_variant LUSC-KR 10 128258107 128258107 single base substitution A G intron_variant LUSC-KR 10 128262400 128262400 single base substitution G C intron_variant LUSC-KR 10 128264431 128264431 single base substitution T A intron_variant LUSC-KR 10 128267860 128267860 single base substitution G T intron_variant LUSC-KR 10 128269881 128269881 single base substitution G T intron_variant LUSC-KR 10 128270184 128270184 single base substitution G C intron_variant LUSC-KR 10 128270720 128270720 single base substitution C A intron_variant LUSC-KR 10 128272149 128272149 single base substitution T A intron_variant LUSC-KR 10 128272640 128272640 single base substitution G A intron_variant LUSC-KR 10 128272946 128272946 single base substitution C A intron_variant LUSC-KR 10 128273066 128273066 single base substitution C G intron_variant LUSC-KR 10 128273976 128273976 single base substitution G T intron_variant LUSC-KR 10 128275559 128275559 single base substitution G T intron_variant LUSC-KR 10 128276604 128276604 single base substitution G T intron_variant LUSC-KR 10 128278064 128278064 single base substitution A G intron_variant LUSC-KR 10 128281987 128281987 single base substitution C T intron_variant LUSC-KR 10 128282584 128282584 single base substitution A G intron_variant LUSC-KR 10 128285016 128285016 single base substitution C G intron_variant LUSC-KR 10 128285486 128285486 single base substitution G T intron_variant LUSC-KR 10 128292248 128292248 single base substitution A T intron_variant LUSC-KR 10 128295651 128295651 single base substitution G T intron_variant LUSC-KR 10 128295785 128295785 single base substitution G A intron_variant LUSC-KR 10 128296836 128296836 single base substitution C G intron_variant LUSC-KR 10 128303240 128303240 single base substitution C A intron_variant LUSC-KR 10 128304483 128304483 single base substitution C G intron_variant LUSC-KR 10 128305225 128305225 single base substitution C A intron_variant LUSC-KR 10 128305313 128305313 single base substitution G T intron_variant LUSC-KR 10 128308579 128308579 single base substitution A G intron_variant LUSC-KR 10 128313259 128313259 single base substitution G T intron_variant LUSC-KR 10 128316435 128316435 single base substitution G A intron_variant LUSC-KR 10 128317165 128317165 single base substitution G C intron_variant LUSC-KR 10 128321838 128321838 single base substitution C A intron_variant LUSC-KR 10 128322306 128322306 single base substitution C A intron_variant LUSC-KR 10 128322307 128322307 single base substitution C A intron_variant LUSC-KR 10 128323175 128323175 single base substitution A T intron_variant LUSC-KR 10 128329105 128329105 single base substitution G C intron_variant LUSC-KR 10 128334508 128334508 single base substitution C A intron_variant LUSC-KR 10 128340438 128340438 single base substitution G T intron_variant LUSC-KR 10 128340439 128340439 single base substitution G T intron_variant LUSC-KR 10 128342385 128342385 single base substitution A C intron_variant LUSC-KR 10 128345285 128345285 single base substitution C A intron_variant LUSC-KR 10 128346405 128346405 single base substitution G C intron_variant LUSC-KR 10 128347599 128347599 single base substitution C A intron_variant LUSC-KR 10 128348475 128348475 single base substitution C T intron_variant LUSC-KR 10 128348633 128348633 single base substitution A G intron_variant LUSC-KR 10 128350605 128350605 single base substitution G T intron_variant LUSC-KR 10 128351310 128351310 single base substitution G A intron_variant LUSC-KR 10 128351400 128351400 single base substitution T G intron_variant LUSC-KR 10 128355590 128355590 single base substitution C T intron_variant LUSC-KR 10 128361283 128361283 single base substitution C A upstream_gene_variant LUSC-KR 10 128362575 128362575 single base substitution A T upstream_gene_variant LUSC-US 10 128114446 128114446 single base substitution C T 3_prime_UTR_variant LUSC-US 10 128114446 128114446 single base substitution C T downstream_gene_variant LUSC-US 10 128114446 128114446 single base substitution C T missense_variant R100K 299G>A LUSC-US 10 128114446 128114446 single base substitution C T missense_variant R238K 713G>A LUSC-US 10 128114446 128114446 single base substitution C T missense_variant R599K 1796G>A LUSC-US 10 128114446 128114446 single base substitution C T missense_variant R696K 2087G>A LUSC-US 10 128114446 128114446 single base substitution C T missense_variant R793K 2378G>A LUSC-US 10 128114630 128114630 single base substitution T A downstream_gene_variant LUSC-US 10 128114630 128114630 single base substitution T A missense_variant K206M 617A>T LUSC-US 10 128114630 128114630 single base substitution T A missense_variant K567M 1700A>T LUSC-US 10 128114630 128114630 single base substitution T A missense_variant K617M 1850A>T LUSC-US 10 128114630 128114630 single base substitution T A missense_variant K664M 1991A>T LUSC-US 10 128114630 128114630 single base substitution T A missense_variant K68M 203A>T LUSC-US 10 128114630 128114630 single base substitution T A missense_variant K761M 2282A>T LUSC-US 10 128147613 128147613 single base substitution C G synonymous_variant L173L 519G>C LUSC-US 10 128147613 128147613 single base substitution C G synonymous_variant L35L 105G>C LUSC-US 10 128147613 128147613 single base substitution C G synonymous_variant L534L 1602G>C LUSC-US 10 128147613 128147613 single base substitution C G synonymous_variant L584L 1752G>C LUSC-US 10 128147613 128147613 single base substitution C G synonymous_variant L631L 1893G>C LUSC-US 10 128147613 128147613 single base substitution C G synonymous_variant L728L 2184G>C LUSC-US 10 128147646 128147646 single base substitution G T synonymous_variant T162T 486C>A LUSC-US 10 128147646 128147646 single base substitution G T synonymous_variant T24T 72C>A LUSC-US 10 128147646 128147646 single base substitution G T synonymous_variant T523T 1569C>A LUSC-US 10 128147646 128147646 single base substitution G T synonymous_variant T573T 1719C>A LUSC-US 10 128147646 128147646 single base substitution G T synonymous_variant T620T 1860C>A LUSC-US 10 128147646 128147646 single base substitution G T synonymous_variant T717T 2151C>A LUSC-US 10 128150051 128150051 single base substitution G T 5_prime_UTR_variant LUSC-US 10 128150051 128150051 single base substitution G T synonymous_variant P449P 1347C>A LUSC-US 10 128150051 128150051 single base substitution G T synonymous_variant P499P 1497C>A LUSC-US 10 128150051 128150051 single base substitution G T synonymous_variant P546P 1638C>A LUSC-US 10 128150051 128150051 single base substitution G T synonymous_variant P643P 1929C>A LUSC-US 10 128150051 128150051 single base substitution G T synonymous_variant P88P 264C>A LUSC-US 10 128150052 128150052 single base substitution G T 5_prime_UTR_variant LUSC-US 10 128150052 128150052 single base substitution G T missense_variant P449H 1346C>A LUSC-US 10 128150052 128150052 single base substitution G T missense_variant P499H 1496C>A LUSC-US 10 128150052 128150052 single base substitution G T missense_variant P546H 1637C>A LUSC-US 10 128150052 128150052 single base substitution G T missense_variant P643H 1928C>A LUSC-US 10 128150052 128150052 single base substitution G T missense_variant P88H 263C>A LUSC-US 10 128150141 128150141 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 10 128150141 128150141 single base substitution G A synonymous_variant C419C 1257C>T LUSC-US 10 128150141 128150141 single base substitution G A synonymous_variant C469C 1407C>T LUSC-US 10 128150141 128150141 single base substitution G A synonymous_variant C516C 1548C>T LUSC-US 10 128150141 128150141 single base substitution G A synonymous_variant C58C 174C>T LUSC-US 10 128150141 128150141 single base substitution G A synonymous_variant C613C 1839C>T LUSC-US 10 128153489 128153489 single base substitution G T intron_variant LUSC-US 10 128153489 128153489 single base substitution G T missense_variant A390D 1169C>A LUSC-US 10 128153489 128153489 single base substitution G T missense_variant A437D 1310C>A LUSC-US 10 128153489 128153489 single base substitution G T missense_variant A534D 1601C>A LUSC-US 10 128153489 128153489 single base substitution G T upstream_gene_variant LUSC-US 10 128153547 128153547 single base substitution T C intron_variant LUSC-US 10 128153547 128153547 single base substitution T C missense_variant K371E 1111A>G LUSC-US 10 128153547 128153547 single base substitution T C missense_variant K418E 1252A>G LUSC-US 10 128153547 128153547 single base substitution T C missense_variant K515E 1543A>G LUSC-US 10 128153547 128153547 single base substitution T C upstream_gene_variant LUSC-US 10 128193239 128193239 single base substitution G A downstream_gene_variant LUSC-US 10 128193239 128193239 single base substitution G A exon_variant LUSC-US 10 128193239 128193239 single base substitution G A missense_variant P130L 389C>T LUSC-US 10 128193239 128193239 single base substitution G A missense_variant P177L 530C>T LUSC-US 10 128193239 128193239 single base substitution G A missense_variant P274L 821C>T LUSC-US 10 128193239 128193239 single base substitution G A upstream_gene_variant LUSC-US 10 128193390 128193390 single base substitution C A downstream_gene_variant LUSC-US 10 128193390 128193390 single base substitution C A exon_variant LUSC-US 10 128193390 128193390 single base substitution C A stop_gained E127* 379G>T LUSC-US 10 128193390 128193390 single base substitution C A stop_gained E224* 670G>T LUSC-US 10 128193390 128193390 single base substitution C A stop_gained E80* 238G>T LUSC-US 10 128193390 128193390 single base substitution C A upstream_gene_variant MALY-DE 10 128108734 128108734 single base substitution G T downstream_gene_variant MALY-DE 10 128108855 128108855 single base substitution A T downstream_gene_variant MALY-DE 10 128110699 128110699 single base substitution G A downstream_gene_variant MALY-DE 10 128111200 128111200 single base substitution C A downstream_gene_variant MALY-DE 10 128113303 128113303 single base substitution G T downstream_gene_variant MALY-DE 10 128113318 128113318 single base substitution A G downstream_gene_variant MALY-DE 10 128113416 128113416 single base substitution C G downstream_gene_variant MALY-DE 10 128115516 128115516 single base substitution C A intron_variant MALY-DE 10 128117563 128117563 single base substitution A C intron_variant MALY-DE 10 128118470 128118470 single base substitution A T intron_variant MALY-DE 10 128123576 128123576 single base substitution C A intron_variant MALY-DE 10 128127640 128127640 insertion of <=200bp - C intron_variant MALY-DE 10 128132029 128132029 single base substitution A C intron_variant MALY-DE 10 128134628 128134628 single base substitution A C intron_variant MALY-DE 10 128135068 128135068 deletion of <=200bp A - intron_variant MALY-DE 10 128137470 128137470 single base substitution T C intron_variant MALY-DE 10 128140320 128140320 single base substitution A T intron_variant MALY-DE 10 128143189 128143189 single base substitution C A intron_variant MALY-DE 10 128144225 128144225 single base substitution A G intron_variant MALY-DE 10 128144375 128144375 single base substitution C A intron_variant MALY-DE 10 128146136 128146136 single base substitution G A intron_variant MALY-DE 10 128146761 128146761 single base substitution T C intron_variant MALY-DE 10 128148525 128148525 single base substitution G A intron_variant MALY-DE 10 128149241 128149241 single base substitution C A intron_variant MALY-DE 10 128149459 128149459 insertion of <=200bp - T intron_variant MALY-DE 10 128149813 128149813 deletion of <=200bp C - intron_variant MALY-DE 10 128151366 128151366 single base substitution C T intron_variant MALY-DE 10 128154055 128154055 single base substitution T C intron_variant MALY-DE 10 128154055 128154055 single base substitution T C upstream_gene_variant MALY-DE 10 128156195 128156195 single base substitution G T intron_variant MALY-DE 10 128156195 128156195 single base substitution G T upstream_gene_variant MALY-DE 10 128156583 128156583 single base substitution C A intron_variant MALY-DE 10 128156583 128156583 single base substitution C A upstream_gene_variant MALY-DE 10 128158587 128158587 single base substitution A G intron_variant MALY-DE 10 128158791 128158791 single base substitution T G intron_variant MALY-DE 10 128162219 128162219 insertion of <=200bp - T intron_variant MALY-DE 10 128162919 128162919 single base substitution C A intron_variant MALY-DE 10 128164557 128164557 single base substitution T C intron_variant MALY-DE 10 128166047 128166047 single base substitution T G intron_variant MALY-DE 10 128167443 128167443 single base substitution C A intron_variant MALY-DE 10 128172291 128172291 single base substitution T G intron_variant MALY-DE 10 128172864 128172864 single base substitution T A intron_variant MALY-DE 10 128173159 128173159 single base substitution G A intron_variant MALY-DE 10 128174346 128174346 insertion of <=200bp - A intron_variant MALY-DE 10 128174557 128174557 single base substitution T A intron_variant MALY-DE 10 128174907 128174907 single base substitution C A intron_variant MALY-DE 10 128176282 128176282 insertion of <=200bp - CAAC intron_variant MALY-DE 10 128176493 128176493 single base substitution T G intron_variant MALY-DE 10 128177484 128177484 single base substitution T G intron_variant MALY-DE 10 128181929 128181929 single base substitution T A intron_variant MALY-DE 10 128183669 128183669 single base substitution A G intron_variant MALY-DE 10 128184593 128184593 single base substitution C A intron_variant MALY-DE 10 128186072 128186072 single base substitution C T intron_variant MALY-DE 10 128189546 128189546 single base substitution G A downstream_gene_variant MALY-DE 10 128189546 128189546 single base substitution G A intron_variant MALY-DE 10 128189795 128189795 single base substitution C A downstream_gene_variant MALY-DE 10 128189795 128189795 single base substitution C A intron_variant MALY-DE 10 128189860 128189860 single base substitution C T downstream_gene_variant MALY-DE 10 128189860 128189860 single base substitution C T intron_variant MALY-DE 10 128189900 128189900 single base substitution T A downstream_gene_variant MALY-DE 10 128189900 128189900 single base substitution T A intron_variant MALY-DE 10 128190441 128190441 single base substitution A C downstream_gene_variant MALY-DE 10 128190441 128190441 single base substitution A C intron_variant MALY-DE 10 128190512 128190513 deletion of <=200bp AC - downstream_gene_variant MALY-DE 10 128190512 128190513 deletion of <=200bp AC - intron_variant MALY-DE 10 128192242 128192242 single base substitution C A downstream_gene_variant MALY-DE 10 128192242 128192242 single base substitution C A intron_variant MALY-DE 10 128196175 128196175 single base substitution C T intron_variant MALY-DE 10 128196175 128196175 single base substitution C T upstream_gene_variant MALY-DE 10 128196326 128196326 single base substitution G T intron_variant MALY-DE 10 128196326 128196326 single base substitution G T upstream_gene_variant MALY-DE 10 128199494 128199494 single base substitution T C intron_variant MALY-DE 10 128203306 128203306 single base substitution C A intron_variant MALY-DE 10 128207025 128207025 single base substitution C A intron_variant MALY-DE 10 128207474 128207474 single base substitution G T intron_variant MALY-DE 10 128208179 128208179 single base substitution T G intron_variant MALY-DE 10 128208700 128208700 single base substitution A G 5_prime_UTR_variant MALY-DE 10 128208700 128208700 single base substitution A G intron_variant MALY-DE 10 128208726 128208726 single base substitution T C 5_prime_UTR_variant MALY-DE 10 128208726 128208726 single base substitution T C intron_variant MALY-DE 10 128210038 128210038 single base substitution G A intron_variant MALY-DE 10 128210038 128210038 single base substitution G A upstream_gene_variant MALY-DE 10 128210057 128210057 single base substitution C T intron_variant MALY-DE 10 128210057 128210057 single base substitution C T upstream_gene_variant MALY-DE 10 128210281 128210281 single base substitution A T intron_variant MALY-DE 10 128210281 128210281 single base substitution A T upstream_gene_variant MALY-DE 10 128216216 128216216 single base substitution G T intron_variant MALY-DE 10 128216216 128216216 single base substitution G T upstream_gene_variant MALY-DE 10 128217488 128217488 single base substitution A T intron_variant MALY-DE 10 128217488 128217488 single base substitution A T upstream_gene_variant MALY-DE 10 128218123 128218123 single base substitution A G intron_variant MALY-DE 10 128218123 128218123 single base substitution A G upstream_gene_variant MALY-DE 10 128218900 128218900 single base substitution A T intron_variant MALY-DE 10 128219029 128219029 single base substitution T G intron_variant MALY-DE 10 128219525 128219525 single base substitution T G intron_variant MALY-DE 10 128219740 128219740 single base substitution C A intron_variant MALY-DE 10 128220311 128220311 single base substitution A C intron_variant MALY-DE 10 128220740 128220740 single base substitution T G intron_variant MALY-DE 10 128224425 128224425 single base substitution G A intron_variant MALY-DE 10 128224954 128224954 single base substitution C A intron_variant MALY-DE 10 128225125 128225125 single base substitution C T intron_variant MALY-DE 10 128225473 128225473 single base substitution T G intron_variant MALY-DE 10 128226325 128226325 single base substitution T A intron_variant MALY-DE 10 128229616 128229616 single base substitution T G intron_variant MALY-DE 10 128229979 128229979 single base substitution T C intron_variant MALY-DE 10 128237019 128237019 single base substitution T C intron_variant MALY-DE 10 128237612 128237612 single base substitution A C intron_variant MALY-DE 10 128240714 128240714 deletion of <=200bp A - intron_variant MALY-DE 10 128242704 128242704 single base substitution A G intron_variant MALY-DE 10 128245685 128245685 single base substitution A G intron_variant MALY-DE 10 128245878 128245878 single base substitution G A intron_variant MALY-DE 10 128246533 128246533 single base substitution C T intron_variant MALY-DE 10 128247310 128247310 single base substitution A T intron_variant MALY-DE 10 128249526 128249526 single base substitution C A intron_variant MALY-DE 10 128252041 128252041 single base substitution C A intron_variant MALY-DE 10 128256836 128256836 single base substitution G T intron_variant MALY-DE 10 128257386 128257386 single base substitution C A intron_variant MALY-DE 10 128259439 128259439 deletion of <=200bp A - intron_variant MALY-DE 10 128265008 128265008 insertion of <=200bp - A intron_variant MALY-DE 10 128265246 128265247 deletion of <=200bp AC - intron_variant MALY-DE 10 128265472 128265472 single base substitution T G intron_variant MALY-DE 10 128270157 128270157 single base substitution G T intron_variant MALY-DE 10 128274910 128274910 single base substitution A C intron_variant MALY-DE 10 128275006 128275006 single base substitution C T intron_variant MALY-DE 10 128275457 128275457 single base substitution T A intron_variant MALY-DE 10 128276677 128276677 single base substitution C T intron_variant MALY-DE 10 128277249 128277249 single base substitution T A intron_variant MALY-DE 10 128277585 128277585 single base substitution A G intron_variant MALY-DE 10 128279457 128279457 single base substitution A C intron_variant MALY-DE 10 128282076 128282076 single base substitution G C intron_variant MALY-DE 10 128285040 128285040 single base substitution C T intron_variant MALY-DE 10 128285786 128285786 single base substitution G T intron_variant MALY-DE 10 128286996 128286996 single base substitution C T intron_variant MALY-DE 10 128289538 128289538 single base substitution A C intron_variant MALY-DE 10 128292481 128292481 single base substitution T C intron_variant MALY-DE 10 128293594 128293594 single base substitution A T intron_variant MALY-DE 10 128293849 128293849 single base substitution G T intron_variant MALY-DE 10 128296946 128296946 single base substitution G A intron_variant MALY-DE 10 128300894 128300894 deletion of <=200bp A - intron_variant MALY-DE 10 128303959 128303959 single base substitution G T intron_variant MALY-DE 10 128305502 128305502 single base substitution T C intron_variant MALY-DE 10 128305586 128305586 single base substitution C T intron_variant MALY-DE 10 128306163 128306163 single base substitution G T intron_variant MALY-DE 10 128306996 128306996 single base substitution T G intron_variant MALY-DE 10 128307037 128307037 single base substitution G C intron_variant MALY-DE 10 128308022 128308022 single base substitution T G intron_variant MALY-DE 10 128309515 128309515 insertion of <=200bp - T intron_variant MALY-DE 10 128310256 128310256 single base substitution T G intron_variant MALY-DE 10 128310420 128310420 single base substitution C T intron_variant MALY-DE 10 128311562 128311562 single base substitution A C intron_variant MALY-DE 10 128314251 128314251 single base substitution G A intron_variant MALY-DE 10 128314469 128314469 single base substitution A G intron_variant MALY-DE 10 128319512 128319512 single base substitution C T intron_variant MALY-DE 10 128321031 128321031 single base substitution A C intron_variant MALY-DE 10 128326900 128326900 single base substitution C T intron_variant MALY-DE 10 128332986 128332986 single base substitution T G intron_variant MALY-DE 10 128333325 128333325 single base substitution A C intron_variant MALY-DE 10 128336059 128336059 single base substitution C A intron_variant MALY-DE 10 128336355 128336355 single base substitution C T intron_variant MALY-DE 10 128337578 128337578 single base substitution G T intron_variant MALY-DE 10 128343886 128343886 deletion of <=200bp A - intron_variant MALY-DE 10 128343890 128343890 insertion of <=200bp - AT intron_variant MALY-DE 10 128344607 128344607 single base substitution G T intron_variant MALY-DE 10 128345948 128345948 single base substitution C T intron_variant MALY-DE 10 128347168 128347168 single base substitution A C intron_variant MALY-DE 10 128349379 128349379 single base substitution A T intron_variant MALY-DE 10 128352821 128352821 single base substitution C T intron_variant MALY-DE 10 128352978 128352978 single base substitution A G intron_variant MALY-DE 10 128353745 128353745 single base substitution A G intron_variant MALY-DE 10 128356253 128356253 single base substitution G A intron_variant MALY-DE 10 128357309 128357309 single base substitution T A intron_variant MALY-DE 10 128357480 128357480 single base substitution G C intron_variant MALY-DE 10 128358571 128358571 single base substitution G A intron_variant MALY-DE 10 128360736 128360736 single base substitution G T upstream_gene_variant MALY-DE 10 128360951 128360951 single base substitution C A upstream_gene_variant MALY-DE 10 128361812 128361812 single base substitution G T upstream_gene_variant MALY-DE 10 128363985 128363985 single base substitution C A upstream_gene_variant MELA-AU 10 128109280 128109280 single base substitution G A downstream_gene_variant MELA-AU 10 128109716 128109716 single base substitution G A downstream_gene_variant MELA-AU 10 128110899 128110899 single base substitution G A downstream_gene_variant MELA-AU 10 128111292 128111292 single base substitution G A downstream_gene_variant MELA-AU 10 128112604 128112604 single base substitution G A downstream_gene_variant MELA-AU 10 128112861 128112861 single base substitution A G downstream_gene_variant MELA-AU 10 128112967 128112967 single base substitution G A downstream_gene_variant MELA-AU 10 128113095 128113096 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 10 128113240 128113240 single base substitution A G downstream_gene_variant MELA-AU 10 128113275 128113275 single base substitution C T downstream_gene_variant MELA-AU 10 128113469 128113469 single base substitution G A downstream_gene_variant MELA-AU 10 128113568 128113568 single base substitution G A 3_prime_UTR_variant MELA-AU 10 128113568 128113568 single base substitution G A downstream_gene_variant MELA-AU 10 128113781 128113781 single base substitution G A 3_prime_UTR_variant MELA-AU 10 128113781 128113781 single base substitution G A downstream_gene_variant MELA-AU 10 128113792 128113792 single base substitution G A 3_prime_UTR_variant MELA-AU 10 128113792 128113792 single base substitution G A downstream_gene_variant MELA-AU 10 128113955 128113955 single base substitution G A 3_prime_UTR_variant MELA-AU 10 128113955 128113955 single base substitution G A downstream_gene_variant MELA-AU 10 128114120 128114120 single base substitution G A 3_prime_UTR_variant MELA-AU 10 128114120 128114120 single base substitution G A downstream_gene_variant MELA-AU 10 128114349 128114349 single base substitution G A 3_prime_UTR_variant MELA-AU 10 128114349 128114349 single base substitution G A downstream_gene_variant MELA-AU 10 128114805 128114805 single base substitution A C intron_variant MELA-AU 10 128115841 128115841 single base substitution G A intron_variant MELA-AU 10 128116157 128116157 single base substitution G A intron_variant MELA-AU 10 128116217 128116217 single base substitution C T intron_variant MELA-AU 10 128116861 128116861 single base substitution G A intron_variant MELA-AU 10 128117069 128117069 single base substitution C G intron_variant MELA-AU 10 128117309 128117309 single base substitution C T intron_variant MELA-AU 10 128117324 128117324 single base substitution G A intron_variant MELA-AU 10 128118200 128118200 single base substitution A G intron_variant MELA-AU 10 128118721 128118721 single base substitution G A intron_variant MELA-AU 10 128118887 128118887 single base substitution G A intron_variant MELA-AU 10 128119289 128119289 single base substitution G A intron_variant MELA-AU 10 128119649 128119649 single base substitution G A intron_variant MELA-AU 10 128120267 128120267 single base substitution G A intron_variant MELA-AU 10 128120341 128120341 single base substitution G A intron_variant MELA-AU 10 128120707 128120707 single base substitution G A intron_variant MELA-AU 10 128121027 128121027 single base substitution G A intron_variant MELA-AU 10 128121191 128121191 single base substitution G A intron_variant MELA-AU 10 128121198 128121198 single base substitution G A intron_variant MELA-AU 10 128121204 128121204 single base substitution G A intron_variant MELA-AU 10 128121329 128121329 single base substitution G A intron_variant MELA-AU 10 128121411 128121411 single base substitution G A intron_variant MELA-AU 10 128121495 128121495 single base substitution G A intron_variant MELA-AU 10 128121638 128121638 single base substitution G A intron_variant MELA-AU 10 128122233 128122233 single base substitution G A intron_variant MELA-AU 10 128122425 128122425 single base substitution G A intron_variant MELA-AU 10 128122759 128122759 single base substitution G C intron_variant MELA-AU 10 128122991 128122991 single base substitution C A intron_variant MELA-AU 10 128123075 128123075 single base substitution C T intron_variant MELA-AU 10 128123829 128123829 single base substitution G A intron_variant MELA-AU 10 128123936 128123936 single base substitution A C intron_variant MELA-AU 10 128124128 128124128 single base substitution C T intron_variant MELA-AU 10 128124202 128124202 single base substitution G A intron_variant MELA-AU 10 128124215 128124215 single base substitution A T intron_variant MELA-AU 10 128124223 128124223 single base substitution A T intron_variant MELA-AU 10 128124546 128124546 single base substitution G A intron_variant MELA-AU 10 128124633 128124633 single base substitution C T intron_variant MELA-AU 10 128124980 128124980 single base substitution G A intron_variant MELA-AU 10 128125730 128125730 single base substitution C T intron_variant MELA-AU 10 128126116 128126116 single base substitution G A intron_variant MELA-AU 10 128126207 128126207 single base substitution G A intron_variant MELA-AU 10 128126220 128126220 single base substitution G A intron_variant MELA-AU 10 128126238 128126238 single base substitution G A intron_variant MELA-AU 10 128126761 128126761 single base substitution C T intron_variant MELA-AU 10 128126824 128126824 single base substitution G A intron_variant MELA-AU 10 128127198 128127198 single base substitution G A intron_variant MELA-AU 10 128127434 128127434 single base substitution G T intron_variant MELA-AU 10 128127436 128127436 single base substitution G A intron_variant MELA-AU 10 128127559 128127559 single base substitution A C intron_variant MELA-AU 10 128128347 128128347 single base substitution G A intron_variant MELA-AU 10 128128669 128128669 single base substitution G A intron_variant MELA-AU 10 128129320 128129320 single base substitution C T intron_variant MELA-AU 10 128129584 128129584 single base substitution G A intron_variant MELA-AU 10 128129736 128129736 single base substitution G A intron_variant MELA-AU 10 128130045 128130045 single base substitution G A intron_variant MELA-AU 10 128130163 128130163 single base substitution A G intron_variant MELA-AU 10 128130266 128130266 single base substitution C T intron_variant MELA-AU 10 128130483 128130483 single base substitution A G intron_variant MELA-AU 10 128131380 128131380 single base substitution C T intron_variant MELA-AU 10 128131424 128131424 single base substitution G A intron_variant MELA-AU 10 128131494 128131494 single base substitution G A intron_variant MELA-AU 10 128131863 128131863 single base substitution G A intron_variant MELA-AU 10 128132130 128132130 single base substitution T C intron_variant MELA-AU 10 128132418 128132418 single base substitution G A intron_variant MELA-AU 10 128132865 128132865 single base substitution C T intron_variant MELA-AU 10 128133527 128133527 single base substitution G A intron_variant MELA-AU 10 128134246 128134247 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 128134578 128134578 single base substitution G A intron_variant MELA-AU 10 128134722 128134722 single base substitution G A intron_variant MELA-AU 10 128134724 128134724 single base substitution A T intron_variant MELA-AU 10 128134744 128134744 deletion of <=200bp A - intron_variant MELA-AU 10 128135464 128135464 single base substitution G A intron_variant MELA-AU 10 128136029 128136029 single base substitution G A intron_variant MELA-AU 10 128136166 128136166 single base substitution A C intron_variant MELA-AU 10 128136665 128136665 single base substitution T C intron_variant MELA-AU 10 128137276 128137277 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 128138369 128138369 single base substitution G A intron_variant MELA-AU 10 128138480 128138480 single base substitution C T intron_variant MELA-AU 10 128139548 128139548 single base substitution T G intron_variant MELA-AU 10 128139615 128139615 single base substitution G A intron_variant MELA-AU 10 128139893 128139893 single base substitution G A intron_variant MELA-AU 10 128140276 128140276 single base substitution C T intron_variant MELA-AU 10 128140759 128140759 single base substitution G A intron_variant MELA-AU 10 128140784 128140784 insertion of <=200bp - A intron_variant MELA-AU 10 128140816 128140816 single base substitution T G intron_variant MELA-AU 10 128141990 128141990 single base substitution G A intron_variant MELA-AU 10 128143833 128143833 single base substitution C T intron_variant MELA-AU 10 128144303 128144303 single base substitution C T intron_variant MELA-AU 10 128144507 128144507 single base substitution C T intron_variant MELA-AU 10 128146687 128146688 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 128146741 128146741 single base substitution C T intron_variant MELA-AU 10 128147195 128147195 single base substitution G A intron_variant MELA-AU 10 128147232 128147232 single base substitution G A intron_variant MELA-AU 10 128147623 128147623 single base substitution G A missense_variant P170L 509C>T MELA-AU 10 128147623 128147623 single base substitution G A missense_variant P32L 95C>T MELA-AU 10 128147623 128147623 single base substitution G A missense_variant P531L 1592C>T MELA-AU 10 128147623 128147623 single base substitution G A missense_variant P581L 1742C>T MELA-AU 10 128147623 128147623 single base substitution G A missense_variant P628L 1883C>T MELA-AU 10 128147623 128147623 single base substitution G A missense_variant P725L 2174C>T MELA-AU 10 128148473 128148473 single base substitution G A intron_variant MELA-AU 10 128148945 128148945 single base substitution G A intron_variant MELA-AU 10 128149118 128149118 single base substitution G A intron_variant MELA-AU 10 128149584 128149584 single base substitution A T intron_variant MELA-AU 10 128149827 128149827 single base substitution G A intron_variant MELA-AU 10 128150629 128150629 single base substitution G A intron_variant MELA-AU 10 128150992 128150992 single base substitution G A intron_variant MELA-AU 10 128151231 128151231 single base substitution G A intron_variant MELA-AU 10 128151360 128151360 single base substitution G A intron_variant MELA-AU 10 128151555 128151555 single base substitution C T intron_variant MELA-AU 10 128151723 128151723 single base substitution G A intron_variant MELA-AU 10 128152567 128152567 single base substitution C T intron_variant MELA-AU 10 128152567 128152567 single base substitution C T upstream_gene_variant MELA-AU 10 128153152 128153152 single base substitution G A intron_variant MELA-AU 10 128153152 128153152 single base substitution G A upstream_gene_variant MELA-AU 10 128153356 128153356 single base substitution G A intron_variant MELA-AU 10 128153356 128153356 single base substitution G A synonymous_variant I434I 1302C>T MELA-AU 10 128153356 128153356 single base substitution G A synonymous_variant I481I 1443C>T MELA-AU 10 128153356 128153356 single base substitution G A synonymous_variant I578I 1734C>T MELA-AU 10 128153356 128153356 single base substitution G A upstream_gene_variant MELA-AU 10 128153900 128153900 single base substitution G A intron_variant MELA-AU 10 128153900 128153900 single base substitution G A upstream_gene_variant MELA-AU 10 128154858 128154858 single base substitution G A intron_variant MELA-AU 10 128154858 128154858 single base substitution G A upstream_gene_variant MELA-AU 10 128154867 128154868 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 128154867 128154868 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 10 128154922 128154922 single base substitution A C intron_variant MELA-AU 10 128154922 128154922 single base substitution A C upstream_gene_variant MELA-AU 10 128156674 128156674 single base substitution C T intron_variant MELA-AU 10 128156674 128156674 single base substitution C T upstream_gene_variant MELA-AU 10 128156778 128156778 single base substitution C A intron_variant MELA-AU 10 128156778 128156778 single base substitution C A upstream_gene_variant MELA-AU 10 128157042 128157042 single base substitution G A intron_variant MELA-AU 10 128157295 128157295 single base substitution G A intron_variant MELA-AU 10 128157726 128157726 single base substitution G A intron_variant MELA-AU 10 128158840 128158840 single base substitution G A intron_variant MELA-AU 10 128159143 128159143 single base substitution T A intron_variant MELA-AU 10 128159146 128159146 single base substitution A C intron_variant MELA-AU 10 128159477 128159477 single base substitution T C intron_variant MELA-AU 10 128159500 128159500 single base substitution G A intron_variant MELA-AU 10 128159654 128159654 single base substitution G A intron_variant MELA-AU 10 128159865 128159865 single base substitution G A intron_variant MELA-AU 10 128159900 128159900 single base substitution T C intron_variant MELA-AU 10 128160186 128160186 single base substitution G A intron_variant MELA-AU 10 128160511 128160511 single base substitution C T intron_variant MELA-AU 10 128160826 128160826 single base substitution A G intron_variant MELA-AU 10 128161313 128161314 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 128161505 128161505 single base substitution C T intron_variant MELA-AU 10 128161513 128161514 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 10 128161543 128161543 single base substitution C T intron_variant MELA-AU 10 128161599 128161599 single base substitution A G intron_variant MELA-AU 10 128161956 128161956 single base substitution G A intron_variant MELA-AU 10 128162150 128162150 single base substitution G A intron_variant MELA-AU 10 128162795 128162795 single base substitution G A intron_variant MELA-AU 10 128163531 128163531 single base substitution G A intron_variant MELA-AU 10 128164016 128164016 single base substitution C T intron_variant MELA-AU 10 128165032 128165032 single base substitution G A intron_variant MELA-AU 10 128165858 128165858 single base substitution A C intron_variant MELA-AU 10 128166061 128166061 insertion of <=200bp - T intron_variant MELA-AU 10 128166089 128166089 single base substitution A C intron_variant MELA-AU 10 128166576 128166576 single base substitution A C intron_variant MELA-AU 10 128166662 128166662 single base substitution G A intron_variant MELA-AU 10 128167089 128167094 deletion of <=200bp AAAAAT - intron_variant MELA-AU 10 128167429 128167429 single base substitution G A intron_variant MELA-AU 10 128168339 128168339 single base substitution A G intron_variant MELA-AU 10 128168363 128168364 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 128168479 128168479 single base substitution G A intron_variant MELA-AU 10 128169008 128169008 single base substitution G A intron_variant MELA-AU 10 128169427 128169427 single base substitution G A intron_variant MELA-AU 10 128170155 128170155 single base substitution C T intron_variant MELA-AU 10 128171218 128171218 single base substitution C T intron_variant MELA-AU 10 128172297 128172297 single base substitution C T intron_variant MELA-AU 10 128172561 128172561 single base substitution G A intron_variant MELA-AU 10 128172672 128172672 single base substitution G A intron_variant MELA-AU 10 128172983 128172983 single base substitution C T intron_variant MELA-AU 10 128174094 128174094 single base substitution A G intron_variant MELA-AU 10 128174223 128174223 single base substitution G A intron_variant MELA-AU 10 128174305 128174305 single base substitution C T intron_variant MELA-AU 10 128175639 128175639 single base substitution G A intron_variant MELA-AU 10 128176654 128176654 single base substitution G A intron_variant MELA-AU 10 128177189 128177189 single base substitution G A intron_variant MELA-AU 10 128177478 128177478 single base substitution G A intron_variant MELA-AU 10 128177993 128177993 single base substitution C T intron_variant MELA-AU 10 128178144 128178144 single base substitution G A intron_variant MELA-AU 10 128178221 128178221 single base substitution G A intron_variant MELA-AU 10 128178548 128178548 single base substitution A T intron_variant MELA-AU 10 128179448 128179448 single base substitution G A intron_variant MELA-AU 10 128179505 128179505 single base substitution G A intron_variant MELA-AU 10 128179607 128179607 single base substitution G A intron_variant MELA-AU 10 128181510 128181510 single base substitution G A intron_variant MELA-AU 10 128181625 128181625 single base substitution G A intron_variant MELA-AU 10 128182388 128182388 single base substitution T G intron_variant MELA-AU 10 128182867 128182867 single base substitution A G intron_variant MELA-AU 10 128183070 128183070 single base substitution G A intron_variant MELA-AU 10 128183539 128183539 single base substitution C T intron_variant MELA-AU 10 128185289 128185289 single base substitution G A intron_variant MELA-AU 10 128185554 128185554 single base substitution T A intron_variant MELA-AU 10 128185723 128185723 single base substitution G A intron_variant MELA-AU 10 128185834 128185834 single base substitution G A intron_variant MELA-AU 10 128186771 128186771 single base substitution G A downstream_gene_variant MELA-AU 10 128186771 128186771 single base substitution G A intron_variant MELA-AU 10 128189209 128189209 single base substitution A G downstream_gene_variant MELA-AU 10 128189209 128189209 single base substitution A G intron_variant MELA-AU 10 128191514 128191514 single base substitution T C downstream_gene_variant MELA-AU 10 128191514 128191514 single base substitution T C intron_variant MELA-AU 10 128191896 128191896 single base substitution A T downstream_gene_variant MELA-AU 10 128191896 128191896 single base substitution A T intron_variant MELA-AU 10 128191912 128191912 single base substitution G A downstream_gene_variant MELA-AU 10 128191912 128191912 single base substitution G A intron_variant MELA-AU 10 128192096 128192096 single base substitution A G downstream_gene_variant MELA-AU 10 128192096 128192096 single base substitution A G intron_variant MELA-AU 10 128192193 128192193 deletion of <=200bp T - downstream_gene_variant MELA-AU 10 128192193 128192193 deletion of <=200bp T - intron_variant MELA-AU 10 128192539 128192539 single base substitution C T downstream_gene_variant MELA-AU 10 128192539 128192539 single base substitution C T exon_variant MELA-AU 10 128192539 128192539 single base substitution C T stop_gained W363* 1089G>A MELA-AU 10 128192539 128192539 single base substitution C T stop_gained W410* 1230G>A MELA-AU 10 128192539 128192539 single base substitution C T stop_gained W49* 147G>A MELA-AU 10 128192539 128192539 single base substitution C T stop_gained W507* 1521G>A MELA-AU 10 128192947 128192947 single base substitution G A downstream_gene_variant MELA-AU 10 128192947 128192947 single base substitution G A exon_variant MELA-AU 10 128192947 128192947 single base substitution G A synonymous_variant P227P 681C>T MELA-AU 10 128192947 128192947 single base substitution G A synonymous_variant P274P 822C>T MELA-AU 10 128192947 128192947 single base substitution G A synonymous_variant P371P 1113C>T MELA-AU 10 128192947 128192947 single base substitution G A upstream_gene_variant MELA-AU 10 128193370 128193370 single base substitution G A downstream_gene_variant MELA-AU 10 128193370 128193370 single base substitution G A exon_variant MELA-AU 10 128193370 128193370 single base substitution G A synonymous_variant P133P 399C>T MELA-AU 10 128193370 128193370 single base substitution G A synonymous_variant P230P 690C>T MELA-AU 10 128193370 128193370 single base substitution G A synonymous_variant P86P 258C>T MELA-AU 10 128193370 128193370 single base substitution G A upstream_gene_variant MELA-AU 10 128193412 128193412 single base substitution C T downstream_gene_variant MELA-AU 10 128193412 128193412 single base substitution C T exon_variant MELA-AU 10 128193412 128193412 single base substitution C T synonymous_variant E119E 357G>A MELA-AU 10 128193412 128193412 single base substitution C T synonymous_variant E216E 648G>A MELA-AU 10 128193412 128193412 single base substitution C T synonymous_variant E72E 216G>A MELA-AU 10 128193412 128193412 single base substitution C T upstream_gene_variant MELA-AU 10 128193521 128193521 single base substitution T G 3_prime_UTR_variant MELA-AU 10 128193521 128193521 single base substitution T G exon_variant MELA-AU 10 128193521 128193521 single base substitution T G missense_variant H180P 539A>C MELA-AU 10 128193521 128193521 single base substitution T G missense_variant H36P 107A>C MELA-AU 10 128193521 128193521 single base substitution T G missense_variant H83P 248A>C MELA-AU 10 128193521 128193521 single base substitution T G upstream_gene_variant MELA-AU 10 128194239 128194240 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 128194239 128194240 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 10 128194518 128194518 single base substitution C T intron_variant MELA-AU 10 128194518 128194518 single base substitution C T upstream_gene_variant MELA-AU 10 128194629 128194629 single base substitution G A intron_variant MELA-AU 10 128194629 128194629 single base substitution G A upstream_gene_variant MELA-AU 10 128194635 128194635 single base substitution G A intron_variant MELA-AU 10 128194635 128194635 single base substitution G A upstream_gene_variant MELA-AU 10 128194938 128194938 single base substitution G T intron_variant MELA-AU 10 128194938 128194938 single base substitution G T upstream_gene_variant MELA-AU 10 128195703 128195703 single base substitution G A intron_variant MELA-AU 10 128195703 128195703 single base substitution G A upstream_gene_variant MELA-AU 10 128195911 128195911 single base substitution G A intron_variant MELA-AU 10 128195911 128195911 single base substitution G A upstream_gene_variant MELA-AU 10 128196630 128196630 single base substitution G A intron_variant MELA-AU 10 128196630 128196630 single base substitution G A upstream_gene_variant MELA-AU 10 128197114 128197114 single base substitution C T intron_variant MELA-AU 10 128197114 128197114 single base substitution C T upstream_gene_variant MELA-AU 10 128197621 128197621 single base substitution C T intron_variant MELA-AU 10 128197621 128197621 single base substitution C T upstream_gene_variant MELA-AU 10 128198425 128198425 single base substitution T A intron_variant MELA-AU 10 128198841 128198841 single base substitution C T intron_variant MELA-AU 10 128199291 128199291 single base substitution G A intron_variant MELA-AU 10 128199445 128199445 single base substitution C T intron_variant MELA-AU 10 128199718 128199718 single base substitution G A intron_variant MELA-AU 10 128200077 128200077 single base substitution G A intron_variant MELA-AU 10 128201947 128201947 single base substitution G A intron_variant MELA-AU 10 128202264 128202264 single base substitution A T intron_variant MELA-AU 10 128204398 128204398 single base substitution G A intron_variant MELA-AU 10 128205339 128205339 single base substitution C T intron_variant MELA-AU 10 128205678 128205678 single base substitution G A intron_variant MELA-AU 10 128206158 128206158 single base substitution G A intron_variant MELA-AU 10 128206257 128206257 single base substitution G A intron_variant MELA-AU 10 128207427 128207427 single base substitution A C intron_variant MELA-AU 10 128207917 128207917 single base substitution T A intron_variant MELA-AU 10 128208414 128208414 single base substitution C T intron_variant MELA-AU 10 128209128 128209128 single base substitution G A 5_prime_UTR_variant MELA-AU 10 128209128 128209128 single base substitution G A intron_variant MELA-AU 10 128210126 128210126 single base substitution G A intron_variant MELA-AU 10 128210126 128210126 single base substitution G A upstream_gene_variant MELA-AU 10 128210597 128210597 single base substitution G A intron_variant MELA-AU 10 128210597 128210597 single base substitution G A upstream_gene_variant MELA-AU 10 128210772 128210772 single base substitution G A intron_variant MELA-AU 10 128210772 128210772 single base substitution G A upstream_gene_variant MELA-AU 10 128210986 128210986 single base substitution G A intron_variant MELA-AU 10 128210986 128210986 single base substitution G A upstream_gene_variant MELA-AU 10 128211087 128211087 single base substitution G A intron_variant MELA-AU 10 128211087 128211087 single base substitution G A upstream_gene_variant MELA-AU 10 128212416 128212416 single base substitution T C intron_variant MELA-AU 10 128212416 128212416 single base substitution T C upstream_gene_variant MELA-AU 10 128212485 128212485 single base substitution A G intron_variant MELA-AU 10 128212485 128212485 single base substitution A G upstream_gene_variant MELA-AU 10 128212721 128212721 single base substitution G A intron_variant MELA-AU 10 128212721 128212721 single base substitution G A upstream_gene_variant MELA-AU 10 128212743 128212744 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 128212743 128212744 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 10 128213387 128213387 single base substitution T G exon_variant MELA-AU 10 128213387 128213387 single base substitution T G intron_variant MELA-AU 10 128213387 128213387 single base substitution T G upstream_gene_variant MELA-AU 10 128215346 128215346 single base substitution G A intron_variant MELA-AU 10 128215346 128215346 single base substitution G A upstream_gene_variant MELA-AU 10 128215718 128215718 single base substitution C T intron_variant MELA-AU 10 128215718 128215718 single base substitution C T upstream_gene_variant MELA-AU 10 128215934 128215934 single base substitution A G intron_variant MELA-AU 10 128215934 128215934 single base substitution A G upstream_gene_variant MELA-AU 10 128216088 128216088 single base substitution C T intron_variant MELA-AU 10 128216088 128216088 single base substitution C T upstream_gene_variant MELA-AU 10 128216164 128216164 single base substitution C T intron_variant MELA-AU 10 128216164 128216164 single base substitution C T upstream_gene_variant MELA-AU 10 128216577 128216577 single base substitution G A intron_variant MELA-AU 10 128216577 128216577 single base substitution G A upstream_gene_variant MELA-AU 10 128216627 128216627 single base substitution T C intron_variant MELA-AU 10 128216627 128216627 single base substitution T C upstream_gene_variant MELA-AU 10 128216794 128216794 single base substitution G A intron_variant MELA-AU 10 128216794 128216794 single base substitution G A upstream_gene_variant MELA-AU 10 128217210 128217211 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 128217210 128217211 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 10 128218568 128218568 single base substitution G A intron_variant MELA-AU 10 128218883 128218883 single base substitution A T intron_variant MELA-AU 10 128218892 128218892 single base substitution C T intron_variant MELA-AU 10 128219491 128219491 single base substitution C T intron_variant MELA-AU 10 128219638 128219638 single base substitution G A intron_variant MELA-AU 10 128220026 128220026 single base substitution G T intron_variant MELA-AU 10 128220047 128220047 single base substitution A G intron_variant MELA-AU 10 128220143 128220143 single base substitution G A intron_variant MELA-AU 10 128220462 128220462 single base substitution G A intron_variant MELA-AU 10 128220648 128220648 single base substitution G A intron_variant MELA-AU 10 128220685 128220685 single base substitution G A intron_variant MELA-AU 10 128221332 128221332 single base substitution G A intron_variant MELA-AU 10 128221383 128221383 single base substitution G A intron_variant MELA-AU 10 128221551 128221551 single base substitution G A intron_variant MELA-AU 10 128221636 128221636 single base substitution G A intron_variant MELA-AU 10 128222723 128222723 single base substitution C T intron_variant MELA-AU 10 128223034 128223034 single base substitution G A intron_variant MELA-AU 10 128223208 128223208 single base substitution G A intron_variant MELA-AU 10 128223260 128223260 single base substitution C T intron_variant MELA-AU 10 128223602 128223602 single base substitution G A intron_variant MELA-AU 10 128224140 128224140 single base substitution C T intron_variant MELA-AU 10 128224505 128224505 single base substitution C T intron_variant MELA-AU 10 128224606 128224606 single base substitution G A intron_variant MELA-AU 10 128225048 128225048 single base substitution G A intron_variant MELA-AU 10 128225092 128225092 single base substitution G C intron_variant MELA-AU 10 128225914 128225914 single base substitution G A intron_variant MELA-AU 10 128226251 128226251 deletion of <=200bp A - intron_variant MELA-AU 10 128226728 128226728 single base substitution C T intron_variant MELA-AU 10 128227408 128227408 single base substitution G T intron_variant MELA-AU 10 128227701 128227701 single base substitution G A intron_variant MELA-AU 10 128228617 128228617 single base substitution G A intron_variant MELA-AU 10 128230307 128230307 single base substitution C T intron_variant MELA-AU 10 128231072 128231072 single base substitution G A intron_variant MELA-AU 10 128231654 128231654 single base substitution A G intron_variant MELA-AU 10 128231694 128231694 single base substitution A G intron_variant MELA-AU 10 128232172 128232172 single base substitution C T intron_variant MELA-AU 10 128232426 128232426 single base substitution C T intron_variant MELA-AU 10 128232625 128232625 single base substitution C T intron_variant MELA-AU 10 128233002 128233002 single base substitution G A intron_variant MELA-AU 10 128233249 128233249 single base substitution G A intron_variant MELA-AU 10 128233412 128233412 single base substitution G A intron_variant MELA-AU 10 128234532 128234533 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 128234977 128234977 single base substitution C T intron_variant MELA-AU 10 128235057 128235057 single base substitution G A intron_variant MELA-AU 10 128235111 128235111 single base substitution A G intron_variant MELA-AU 10 128235371 128235371 single base substitution A G intron_variant MELA-AU 10 128235771 128235771 single base substitution G A intron_variant MELA-AU 10 128235831 128235831 single base substitution A G intron_variant MELA-AU 10 128236198 128236198 single base substitution G A intron_variant MELA-AU 10 128236376 128236376 single base substitution A G intron_variant MELA-AU 10 128236659 128236659 single base substitution A G intron_variant MELA-AU 10 128237150 128237150 single base substitution G T intron_variant MELA-AU 10 128237150 128237151 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 10 128238005 128238005 single base substitution G A intron_variant MELA-AU 10 128239213 128239213 single base substitution G A intron_variant MELA-AU 10 128239278 128239278 single base substitution C T intron_variant MELA-AU 10 128239732 128239732 single base substitution C T intron_variant MELA-AU 10 128239783 128239783 single base substitution G A intron_variant MELA-AU 10 128240845 128240845 single base substitution G A intron_variant MELA-AU 10 128241087 128241087 single base substitution C G intron_variant MELA-AU 10 128241619 128241619 single base substitution A T intron_variant MELA-AU 10 128241820 128241820 single base substitution A G intron_variant MELA-AU 10 128242481 128242481 single base substitution G A intron_variant MELA-AU 10 128243002 128243003 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 128243702 128243702 single base substitution G A intron_variant MELA-AU 10 128243970 128243970 single base substitution G A intron_variant MELA-AU 10 128244183 128244183 single base substitution G A intron_variant MELA-AU 10 128244239 128244239 single base substitution C T intron_variant MELA-AU 10 128244277 128244277 single base substitution A G intron_variant MELA-AU 10 128244278 128244278 insertion of <=200bp - TAAATAAG intron_variant MELA-AU 10 128244285 128244285 single base substitution A G intron_variant MELA-AU 10 128244850 128244850 single base substitution G A intron_variant MELA-AU 10 128245006 128245006 single base substitution G A intron_variant MELA-AU 10 128245078 128245078 single base substitution T C intron_variant MELA-AU 10 128245406 128245406 single base substitution G A intron_variant MELA-AU 10 128247174 128247174 single base substitution C A intron_variant MELA-AU 10 128248854 128248854 single base substitution G C intron_variant MELA-AU 10 128249018 128249018 single base substitution G A intron_variant MELA-AU 10 128249658 128249658 single base substitution G A intron_variant MELA-AU 10 128250300 128250300 single base substitution G A intron_variant MELA-AU 10 128251213 128251213 single base substitution G A intron_variant MELA-AU 10 128251771 128251771 single base substitution G A intron_variant MELA-AU 10 128251804 128251804 single base substitution A T intron_variant MELA-AU 10 128252237 128252237 single base substitution G A intron_variant MELA-AU 10 128252445 128252445 single base substitution C A intron_variant MELA-AU 10 128252560 128252561 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 10 128255773 128255774 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 128255963 128255963 single base substitution G A intron_variant MELA-AU 10 128256355 128256356 multiple base substitution (>=2bp and <=200bp) CA AG intron_variant MELA-AU 10 128256359 128256360 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 128256908 128256908 single base substitution C T intron_variant MELA-AU 10 128257122 128257122 single base substitution T A intron_variant MELA-AU 10 128257335 128257335 single base substitution G A intron_variant MELA-AU 10 128257672 128257672 single base substitution G A intron_variant MELA-AU 10 128257805 128257806 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 128258059 128258059 single base substitution G A intron_variant MELA-AU 10 128258383 128258383 single base substitution C T intron_variant MELA-AU 10 128258799 128258799 single base substitution G A intron_variant MELA-AU 10 128259058 128259060 multiple base substitution (>=2bp and <=200bp) GGA AAT intron_variant MELA-AU 10 128259576 128259576 single base substitution C T intron_variant MELA-AU 10 128259824 128259824 single base substitution G A intron_variant MELA-AU 10 128260412 128260412 single base substitution A G intron_variant MELA-AU 10 128260609 128260609 single base substitution C T intron_variant MELA-AU 10 128261302 128261302 single base substitution G A intron_variant MELA-AU 10 128261445 128261445 single base substitution G A intron_variant MELA-AU 10 128261482 128261482 single base substitution G A intron_variant MELA-AU 10 128261723 128261723 single base substitution G A intron_variant MELA-AU 10 128261728 128261728 single base substitution A G intron_variant MELA-AU 10 128262122 128262122 single base substitution G A intron_variant MELA-AU 10 128262493 128262493 single base substitution G A intron_variant MELA-AU 10 128263176 128263176 single base substitution T C intron_variant MELA-AU 10 128263620 128263620 single base substitution G A intron_variant MELA-AU 10 128263629 128263629 single base substitution G A intron_variant MELA-AU 10 128263959 128263959 single base substitution G A intron_variant MELA-AU 10 128264084 128264084 single base substitution G A intron_variant MELA-AU 10 128264427 128264427 single base substitution T G intron_variant MELA-AU 10 128264641 128264641 single base substitution G A intron_variant MELA-AU 10 128264752 128264752 single base substitution G A intron_variant MELA-AU 10 128265422 128265422 single base substitution G A intron_variant MELA-AU 10 128266214 128266214 single base substitution G A intron_variant MELA-AU 10 128266601 128266601 single base substitution C T intron_variant MELA-AU 10 128267643 128267643 single base substitution A T intron_variant MELA-AU 10 128268254 128268254 single base substitution G A intron_variant MELA-AU 10 128269293 128269293 single base substitution C T intron_variant MELA-AU 10 128270760 128270760 single base substitution G A intron_variant MELA-AU 10 128271129 128271129 single base substitution C T intron_variant MELA-AU 10 128271216 128271216 single base substitution G A intron_variant MELA-AU 10 128271664 128271664 single base substitution A G intron_variant MELA-AU 10 128272255 128272255 single base substitution G A intron_variant MELA-AU 10 128272361 128272361 single base substitution A T intron_variant MELA-AU 10 128272462 128272462 single base substitution G A intron_variant MELA-AU 10 128272979 128272979 single base substitution C T intron_variant MELA-AU 10 128273145 128273145 single base substitution G A intron_variant MELA-AU 10 128274022 128274022 single base substitution G A intron_variant MELA-AU 10 128274299 128274299 single base substitution G A intron_variant MELA-AU 10 128275210 128275210 single base substitution C T intron_variant MELA-AU 10 128275552 128275552 single base substitution G A intron_variant MELA-AU 10 128276100 128276102 deletion of <=200bp GGG - intron_variant MELA-AU 10 128276304 128276304 single base substitution A T intron_variant MELA-AU 10 128276358 128276358 single base substitution G A intron_variant MELA-AU 10 128277644 128277644 single base substitution A G intron_variant MELA-AU 10 128277842 128277842 single base substitution G A intron_variant MELA-AU 10 128278461 128278469 deletion of <=200bp AAGACACAG - intron_variant MELA-AU 10 128278915 128278915 single base substitution G A intron_variant MELA-AU 10 128280582 128280582 single base substitution G A intron_variant MELA-AU 10 128280789 128280789 single base substitution A G intron_variant MELA-AU 10 128281015 128281015 single base substitution G A intron_variant MELA-AU 10 128281879 128281879 single base substitution G A intron_variant MELA-AU 10 128282075 128282075 single base substitution G A intron_variant MELA-AU 10 128282179 128282180 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 128283128 128283128 single base substitution T C intron_variant MELA-AU 10 128283616 128283616 single base substitution A T intron_variant MELA-AU 10 128283711 128283711 single base substitution G A intron_variant MELA-AU 10 128284130 128284130 single base substitution G A intron_variant MELA-AU 10 128284955 128284955 single base substitution A C intron_variant MELA-AU 10 128285812 128285812 single base substitution G C intron_variant MELA-AU 10 128286267 128286267 single base substitution G A intron_variant MELA-AU 10 128286928 128286928 single base substitution G C intron_variant MELA-AU 10 128286942 128286942 single base substitution G A intron_variant MELA-AU 10 128287407 128287407 single base substitution G A intron_variant MELA-AU 10 128288028 128288028 single base substitution C A intron_variant MELA-AU 10 128288605 128288605 single base substitution G A intron_variant MELA-AU 10 128289006 128289006 single base substitution G C intron_variant MELA-AU 10 128289112 128289112 single base substitution G A intron_variant MELA-AU 10 128289787 128289787 single base substitution G A intron_variant MELA-AU 10 128289940 128289940 single base substitution G A intron_variant MELA-AU 10 128290406 128290406 single base substitution G A intron_variant MELA-AU 10 128291797 128291797 single base substitution G A intron_variant MELA-AU 10 128291896 128291896 single base substitution G A intron_variant MELA-AU 10 128292610 128292610 single base substitution G A intron_variant MELA-AU 10 128293181 128293181 single base substitution G A intron_variant MELA-AU 10 128293359 128293359 single base substitution C T intron_variant MELA-AU 10 128293400 128293400 single base substitution G A intron_variant MELA-AU 10 128293462 128293463 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 128293957 128293957 single base substitution C T intron_variant MELA-AU 10 128294022 128294022 single base substitution C T intron_variant MELA-AU 10 128294448 128294448 single base substitution G A intron_variant MELA-AU 10 128295306 128295306 single base substitution G A intron_variant MELA-AU 10 128295346 128295346 single base substitution G A intron_variant MELA-AU 10 128297948 128297948 single base substitution G A intron_variant MELA-AU 10 128298501 128298501 single base substitution G C intron_variant MELA-AU 10 128298848 128298848 single base substitution G A intron_variant MELA-AU 10 128298998 128298998 single base substitution G A intron_variant MELA-AU 10 128299610 128299610 single base substitution T C intron_variant MELA-AU 10 128300274 128300274 single base substitution G A intron_variant MELA-AU 10 128301586 128301586 single base substitution G A intron_variant MELA-AU 10 128302741 128302741 single base substitution G A intron_variant MELA-AU 10 128302777 128302777 single base substitution G A intron_variant MELA-AU 10 128304377 128304378 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 10 128305070 128305070 single base substitution G A intron_variant MELA-AU 10 128305425 128305425 single base substitution G A intron_variant MELA-AU 10 128305605 128305605 single base substitution G A intron_variant MELA-AU 10 128305758 128305758 single base substitution C T intron_variant MELA-AU 10 128305848 128305848 single base substitution G T intron_variant MELA-AU 10 128306564 128306564 single base substitution G A intron_variant MELA-AU 10 128306683 128306683 single base substitution G A intron_variant MELA-AU 10 128307022 128307022 single base substitution G A intron_variant MELA-AU 10 128308023 128308023 single base substitution G C intron_variant MELA-AU 10 128308400 128308400 single base substitution G A intron_variant MELA-AU 10 128308689 128308689 single base substitution T C intron_variant MELA-AU 10 128309314 128309314 single base substitution A T intron_variant MELA-AU 10 128309632 128309632 single base substitution T G intron_variant MELA-AU 10 128309774 128309774 single base substitution G A intron_variant MELA-AU 10 128312329 128312329 single base substitution G A intron_variant MELA-AU 10 128313810 128313810 single base substitution C G intron_variant MELA-AU 10 128314367 128314367 single base substitution G A intron_variant MELA-AU 10 128314709 128314709 single base substitution A T intron_variant MELA-AU 10 128314957 128314957 single base substitution G A intron_variant MELA-AU 10 128316140 128316141 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 10 128316162 128316162 single base substitution G A intron_variant MELA-AU 10 128316905 128316906 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 128318128 128318128 single base substitution G A intron_variant MELA-AU 10 128318221 128318221 single base substitution G A intron_variant MELA-AU 10 128318396 128318396 single base substitution G A intron_variant MELA-AU 10 128318819 128318819 single base substitution G A intron_variant MELA-AU 10 128319049 128319049 single base substitution G A intron_variant MELA-AU 10 128321370 128321370 single base substitution T C intron_variant MELA-AU 10 128321582 128321582 single base substitution G A intron_variant MELA-AU 10 128322203 128322203 single base substitution G A intron_variant MELA-AU 10 128322638 128322638 single base substitution G A intron_variant MELA-AU 10 128322835 128322835 single base substitution A T intron_variant MELA-AU 10 128324006 128324006 single base substitution G A intron_variant MELA-AU 10 128324480 128324480 single base substitution G C intron_variant MELA-AU 10 128324645 128324645 single base substitution G A intron_variant MELA-AU 10 128324664 128324664 single base substitution G A intron_variant MELA-AU 10 128324900 128324900 single base substitution A G intron_variant MELA-AU 10 128326161 128326161 single base substitution C T intron_variant MELA-AU 10 128326330 128326330 single base substitution G A intron_variant MELA-AU 10 128326705 128326706 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 128327549 128327549 single base substitution C T intron_variant MELA-AU 10 128327712 128327712 single base substitution C T intron_variant MELA-AU 10 128328148 128328148 single base substitution G A intron_variant MELA-AU 10 128328898 128328898 single base substitution G A intron_variant MELA-AU 10 128329149 128329149 single base substitution G A intron_variant MELA-AU 10 128329965 128329965 single base substitution C T intron_variant MELA-AU 10 128330385 128330385 single base substitution T A intron_variant MELA-AU 10 128331157 128331157 single base substitution C T intron_variant MELA-AU 10 128331775 128331775 single base substitution G A intron_variant MELA-AU 10 128331794 128331794 single base substitution C T intron_variant MELA-AU 10 128332144 128332144 single base substitution G A intron_variant MELA-AU 10 128332388 128332388 single base substitution C T intron_variant MELA-AU 10 128332918 128332918 single base substitution C T intron_variant MELA-AU 10 128332933 128332933 single base substitution T C intron_variant MELA-AU 10 128333484 128333484 single base substitution G A intron_variant MELA-AU 10 128333653 128333653 single base substitution G A intron_variant MELA-AU 10 128335576 128335576 single base substitution C A intron_variant MELA-AU 10 128337642 128337642 single base substitution C T intron_variant MELA-AU 10 128337879 128337879 single base substitution C A intron_variant MELA-AU 10 128338138 128338138 single base substitution C T intron_variant MELA-AU 10 128338499 128338499 single base substitution G A intron_variant MELA-AU 10 128339713 128339713 single base substitution A C intron_variant MELA-AU 10 128340858 128340858 single base substitution T A intron_variant MELA-AU 10 128341233 128341233 single base substitution G A intron_variant MELA-AU 10 128341431 128341431 single base substitution T C intron_variant MELA-AU 10 128341460 128341460 single base substitution G A intron_variant MELA-AU 10 128341818 128341818 single base substitution G A intron_variant MELA-AU 10 128342823 128342823 single base substitution C T intron_variant MELA-AU 10 128343085 128343085 single base substitution A T intron_variant MELA-AU 10 128343952 128343952 single base substitution G A intron_variant MELA-AU 10 128344600 128344600 single base substitution C G intron_variant MELA-AU 10 128345071 128345071 single base substitution G A intron_variant MELA-AU 10 128345250 128345250 single base substitution G A intron_variant MELA-AU 10 128346042 128346042 single base substitution G A intron_variant MELA-AU 10 128346405 128346405 single base substitution G A intron_variant MELA-AU 10 128347049 128347049 single base substitution T C intron_variant MELA-AU 10 128348683 128348683 single base substitution A T intron_variant MELA-AU 10 128349002 128349002 single base substitution G A intron_variant MELA-AU 10 128350294 128350294 single base substitution C T intron_variant MELA-AU 10 128351306 128351306 single base substitution T G intron_variant MELA-AU 10 128351528 128351528 single base substitution G A intron_variant MELA-AU 10 128351760 128351760 single base substitution G T intron_variant MELA-AU 10 128352736 128352736 single base substitution T A intron_variant MELA-AU 10 128353230 128353230 single base substitution G A intron_variant MELA-AU 10 128353827 128353827 single base substitution G A intron_variant MELA-AU 10 128353931 128353931 single base substitution A G intron_variant MELA-AU 10 128354119 128354119 single base substitution C A intron_variant MELA-AU 10 128354871 128354871 single base substitution G A intron_variant MELA-AU 10 128354996 128354996 single base substitution G A intron_variant MELA-AU 10 128356003 128356003 single base substitution G A intron_variant MELA-AU 10 128359783 128359784 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 10 128360819 128360819 single base substitution G A upstream_gene_variant MELA-AU 10 128361473 128361473 single base substitution C T upstream_gene_variant MELA-AU 10 128361537 128361537 single base substitution G T upstream_gene_variant MELA-AU 10 128361552 128361552 single base substitution G A upstream_gene_variant MELA-AU 10 128362414 128362414 single base substitution G A upstream_gene_variant MELA-AU 10 128362494 128362494 single base substitution C T upstream_gene_variant MELA-AU 10 128362777 128362777 single base substitution G A upstream_gene_variant MELA-AU 10 128362908 128362908 single base substitution T A upstream_gene_variant MELA-AU 10 128363078 128363078 single base substitution G A upstream_gene_variant ORCA-IN 10 128113170 128113170 single base substitution A C downstream_gene_variant ORCA-IN 10 128115453 128115453 single base substitution C T intron_variant ORCA-IN 10 128118736 128118736 single base substitution G A intron_variant ORCA-IN 10 128131975 128131975 single base substitution G C intron_variant ORCA-IN 10 128137868 128137868 single base substitution C G intron_variant ORCA-IN 10 128144574 128144574 single base substitution C G intron_variant ORCA-IN 10 128147746 128147746 single base substitution G A 5_prime_UTR_variant ORCA-IN 10 128147746 128147746 single base substitution G A missense_variant S129L 386C>T ORCA-IN 10 128147746 128147746 single base substitution G A missense_variant S490L 1469C>T ORCA-IN 10 128147746 128147746 single base substitution G A missense_variant S540L 1619C>T ORCA-IN 10 128147746 128147746 single base substitution G A missense_variant S587L 1760C>T ORCA-IN 10 128147746 128147746 single base substitution G A missense_variant S684L 2051C>T ORCA-IN 10 128152234 128152234 single base substitution T C intron_variant ORCA-IN 10 128152234 128152234 single base substitution T C upstream_gene_variant ORCA-IN 10 128190614 128190614 single base substitution C G downstream_gene_variant ORCA-IN 10 128190614 128190614 single base substitution C G intron_variant ORCA-IN 10 128196759 128196759 single base substitution A T intron_variant ORCA-IN 10 128196759 128196759 single base substitution A T upstream_gene_variant ORCA-IN 10 128197536 128197536 single base substitution G C intron_variant ORCA-IN 10 128197536 128197536 single base substitution G C upstream_gene_variant ORCA-IN 10 128200200 128200200 single base substitution C A intron_variant ORCA-IN 10 128211229 128211229 single base substitution G A intron_variant ORCA-IN 10 128211229 128211229 single base substitution G A upstream_gene_variant ORCA-IN 10 128241651 128241651 single base substitution G C intron_variant ORCA-IN 10 128244417 128244417 single base substitution G A intron_variant ORCA-IN 10 128258063 128258063 single base substitution T C intron_variant ORCA-IN 10 128261990 128261990 single base substitution T A intron_variant ORCA-IN 10 128265081 128265081 single base substitution G C intron_variant ORCA-IN 10 128272412 128272412 single base substitution C T intron_variant ORCA-IN 10 128294484 128294484 single base substitution T A intron_variant ORCA-IN 10 128309312 128309312 deletion of <=200bp G - intron_variant ORCA-IN 10 128352623 128352623 single base substitution C G intron_variant OV-AU 10 128112934 128112934 single base substitution G T downstream_gene_variant OV-AU 10 128113612 128113612 single base substitution A C 3_prime_UTR_variant OV-AU 10 128113612 128113612 single base substitution A C downstream_gene_variant OV-AU 10 128114237 128114237 single base substitution C A 3_prime_UTR_variant OV-AU 10 128114237 128114237 single base substitution C A downstream_gene_variant OV-AU 10 128119807 128119807 single base substitution T C intron_variant OV-AU 10 128121215 128121215 single base substitution C A intron_variant OV-AU 10 128123542 128123542 single base substitution G C intron_variant OV-AU 10 128127529 128127529 single base substitution A G intron_variant OV-AU 10 128131579 128131579 single base substitution C T intron_variant OV-AU 10 128133042 128133042 single base substitution A G intron_variant OV-AU 10 128135813 128135813 single base substitution G T intron_variant OV-AU 10 128136406 128136406 single base substitution G A intron_variant OV-AU 10 128137885 128137885 single base substitution A T intron_variant OV-AU 10 128142377 128142377 single base substitution G T intron_variant OV-AU 10 128144885 128144885 single base substitution C T intron_variant OV-AU 10 128145803 128145803 single base substitution C T intron_variant OV-AU 10 128146677 128146677 single base substitution G T intron_variant OV-AU 10 128146828 128146828 single base substitution T A intron_variant OV-AU 10 128150233 128150233 single base substitution A C intron_variant OV-AU 10 128152753 128152753 single base substitution T A intron_variant OV-AU 10 128152753 128152753 single base substitution T A upstream_gene_variant OV-AU 10 128153019 128153019 single base substitution C G intron_variant OV-AU 10 128153019 128153019 single base substitution C G upstream_gene_variant OV-AU 10 128153072 128153072 single base substitution A G intron_variant OV-AU 10 128153072 128153072 single base substitution A G upstream_gene_variant OV-AU 10 128154718 128154718 single base substitution C G intron_variant OV-AU 10 128154718 128154718 single base substitution C G upstream_gene_variant OV-AU 10 128155648 128155648 single base substitution A T intron_variant OV-AU 10 128155648 128155648 single base substitution A T upstream_gene_variant OV-AU 10 128155985 128155985 single base substitution C G intron_variant OV-AU 10 128155985 128155985 single base substitution C G upstream_gene_variant OV-AU 10 128156001 128156001 single base substitution G A intron_variant OV-AU 10 128156001 128156001 single base substitution G A upstream_gene_variant OV-AU 10 128156088 128156088 single base substitution G T intron_variant OV-AU 10 128156088 128156088 single base substitution G T upstream_gene_variant OV-AU 10 128156499 128156499 single base substitution G A intron_variant OV-AU 10 128156499 128156499 single base substitution G A upstream_gene_variant OV-AU 10 128159305 128159305 single base substitution C T intron_variant OV-AU 10 128161307 128161307 single base substitution C A intron_variant OV-AU 10 128161631 128161631 single base substitution T A intron_variant OV-AU 10 128162278 128162278 single base substitution G A intron_variant OV-AU 10 128163979 128163979 single base substitution C A intron_variant OV-AU 10 128167821 128167821 single base substitution G T intron_variant OV-AU 10 128170192 128170192 single base substitution A T intron_variant OV-AU 10 128175072 128175072 single base substitution G A intron_variant OV-AU 10 128175732 128175732 single base substitution A G intron_variant OV-AU 10 128178831 128178831 single base substitution A G intron_variant OV-AU 10 128178995 128178995 single base substitution G C intron_variant OV-AU 10 128183559 128183559 single base substitution A T intron_variant OV-AU 10 128185979 128185979 single base substitution C T intron_variant OV-AU 10 128186098 128186098 single base substitution C T intron_variant OV-AU 10 128186650 128186650 single base substitution C A downstream_gene_variant OV-AU 10 128186650 128186650 single base substitution C A intron_variant OV-AU 10 128189147 128189147 single base substitution G A downstream_gene_variant OV-AU 10 128189147 128189147 single base substitution G A intron_variant OV-AU 10 128196312 128196312 single base substitution A C intron_variant OV-AU 10 128196312 128196312 single base substitution A C upstream_gene_variant OV-AU 10 128196323 128196323 single base substitution C T intron_variant OV-AU 10 128196323 128196323 single base substitution C T upstream_gene_variant OV-AU 10 128197655 128197655 single base substitution T A intron_variant OV-AU 10 128197655 128197655 single base substitution T A upstream_gene_variant OV-AU 10 128201996 128201996 single base substitution C T intron_variant OV-AU 10 128206149 128206149 single base substitution C G intron_variant OV-AU 10 128206610 128206610 single base substitution G C intron_variant OV-AU 10 128206676 128206676 single base substitution C A intron_variant OV-AU 10 128207153 128207153 single base substitution T A intron_variant OV-AU 10 128207334 128207334 single base substitution C T intron_variant OV-AU 10 128208323 128208323 single base substitution T A intron_variant OV-AU 10 128210686 128210686 single base substitution A G intron_variant OV-AU 10 128210686 128210686 single base substitution A G upstream_gene_variant OV-AU 10 128215661 128215661 single base substitution G A intron_variant OV-AU 10 128215661 128215661 single base substitution G A upstream_gene_variant OV-AU 10 128215789 128215789 single base substitution G T intron_variant OV-AU 10 128215789 128215789 single base substitution G T upstream_gene_variant OV-AU 10 128216476 128216476 single base substitution G A intron_variant OV-AU 10 128216476 128216476 single base substitution G A upstream_gene_variant OV-AU 10 128219875 128219875 single base substitution T C intron_variant OV-AU 10 128220538 128220538 single base substitution G A intron_variant OV-AU 10 128222225 128222225 single base substitution C G intron_variant OV-AU 10 128223368 128223368 single base substitution T A intron_variant OV-AU 10 128226805 128226805 single base substitution A G intron_variant OV-AU 10 128226831 128226831 single base substitution A T intron_variant OV-AU 10 128227779 128227779 single base substitution A T intron_variant OV-AU 10 128229089 128229089 single base substitution G A intron_variant OV-AU 10 128231096 128231096 single base substitution T C intron_variant OV-AU 10 128232445 128232445 single base substitution A G intron_variant OV-AU 10 128239722 128239722 single base substitution G C intron_variant OV-AU 10 128241715 128241715 single base substitution G C intron_variant OV-AU 10 128242533 128242533 single base substitution G A intron_variant OV-AU 10 128242698 128242698 single base substitution A G intron_variant OV-AU 10 128245349 128245349 single base substitution A T intron_variant OV-AU 10 128248701 128248701 single base substitution C T intron_variant OV-AU 10 128248702 128248702 single base substitution C G intron_variant OV-AU 10 128252347 128252347 single base substitution C T intron_variant OV-AU 10 128252389 128252389 single base substitution C T intron_variant OV-AU 10 128256405 128256405 single base substitution A T intron_variant OV-AU 10 128257052 128257052 single base substitution A C intron_variant OV-AU 10 128257483 128257483 single base substitution G T intron_variant OV-AU 10 128260694 128260694 single base substitution T C intron_variant OV-AU 10 128261739 128261739 single base substitution A T intron_variant OV-AU 10 128262483 128262483 single base substitution C A intron_variant OV-AU 10 128263591 128263591 single base substitution A G intron_variant OV-AU 10 128266549 128266549 single base substitution A C intron_variant OV-AU 10 128268783 128268783 single base substitution T G intron_variant OV-AU 10 128270844 128270844 single base substitution G A intron_variant OV-AU 10 128274457 128274457 single base substitution G A intron_variant OV-AU 10 128274458 128274458 single base substitution C T intron_variant OV-AU 10 128275256 128275256 single base substitution C T intron_variant OV-AU 10 128280606 128280606 single base substitution G A intron_variant OV-AU 10 128283127 128283127 single base substitution G C intron_variant OV-AU 10 128283608 128283608 single base substitution G C intron_variant OV-AU 10 128284232 128284232 single base substitution C T intron_variant OV-AU 10 128284334 128284334 single base substitution G A intron_variant OV-AU 10 128288483 128288483 single base substitution A G intron_variant OV-AU 10 128291210 128291210 single base substitution T A intron_variant OV-AU 10 128291231 128291231 single base substitution C A intron_variant OV-AU 10 128292335 128292335 single base substitution G T intron_variant OV-AU 10 128292347 128292347 single base substitution C A intron_variant OV-AU 10 128295999 128295999 single base substitution G T intron_variant OV-AU 10 128297584 128297584 single base substitution C T intron_variant OV-AU 10 128297840 128297840 single base substitution T C intron_variant OV-AU 10 128298375 128298375 single base substitution C T intron_variant OV-AU 10 128298519 128298519 single base substitution G A intron_variant OV-AU 10 128300122 128300122 single base substitution G A intron_variant OV-AU 10 128301571 128301571 single base substitution A T intron_variant OV-AU 10 128301891 128301891 single base substitution C A intron_variant OV-AU 10 128302721 128302721 single base substitution T A intron_variant OV-AU 10 128303240 128303240 single base substitution C T intron_variant OV-AU 10 128306810 128306810 single base substitution G A intron_variant OV-AU 10 128307190 128307190 single base substitution A G intron_variant OV-AU 10 128307392 128307392 single base substitution C A intron_variant OV-AU 10 128307414 128307414 single base substitution T A intron_variant OV-AU 10 128309247 128309247 single base substitution A T intron_variant OV-AU 10 128309251 128309251 single base substitution T A intron_variant OV-AU 10 128311763 128311763 single base substitution G T intron_variant OV-AU 10 128312565 128312565 single base substitution A T intron_variant OV-AU 10 128312722 128312722 single base substitution C G intron_variant OV-AU 10 128313422 128313422 single base substitution G C intron_variant OV-AU 10 128313643 128313643 single base substitution C G intron_variant OV-AU 10 128315984 128315984 single base substitution T A intron_variant OV-AU 10 128317013 128317013 single base substitution G C intron_variant OV-AU 10 128319045 128319045 single base substitution C T intron_variant OV-AU 10 128319772 128319772 single base substitution T G intron_variant OV-AU 10 128320124 128320124 single base substitution A G intron_variant OV-AU 10 128320285 128320285 single base substitution C G intron_variant OV-AU 10 128321954 128321954 single base substitution C T intron_variant OV-AU 10 128324128 128324128 single base substitution C T intron_variant OV-AU 10 128324159 128324159 single base substitution G T intron_variant OV-AU 10 128327137 128327137 single base substitution C T intron_variant OV-AU 10 128329149 128329149 single base substitution G A intron_variant OV-AU 10 128331303 128331303 single base substitution C A intron_variant OV-AU 10 128331463 128331463 single base substitution C T intron_variant OV-AU 10 128339622 128339622 single base substitution A C intron_variant OV-AU 10 128342065 128342065 single base substitution C A intron_variant OV-AU 10 128342690 128342690 single base substitution C A intron_variant OV-AU 10 128345719 128345719 single base substitution T A intron_variant OV-AU 10 128347574 128347574 single base substitution C A intron_variant OV-AU 10 128348584 128348584 single base substitution C T intron_variant OV-AU 10 128348823 128348823 single base substitution T A intron_variant OV-AU 10 128349225 128349225 single base substitution C A intron_variant OV-AU 10 128352214 128352214 single base substitution C A intron_variant OV-AU 10 128353833 128353833 single base substitution G T intron_variant OV-AU 10 128354257 128354257 single base substitution A T intron_variant OV-AU 10 128354548 128354548 single base substitution T G intron_variant OV-AU 10 128357054 128357054 single base substitution C G intron_variant OV-AU 10 128358390 128358390 single base substitution G A intron_variant OV-AU 10 128362692 128362692 single base substitution T A upstream_gene_variant OV-AU 10 128363958 128363958 single base substitution C A upstream_gene_variant PACA-AU 10 128109833 128109833 single base substitution C T downstream_gene_variant PACA-AU 10 128111040 128111040 single base substitution G T downstream_gene_variant PACA-AU 10 128111117 128111117 single base substitution T A downstream_gene_variant PACA-AU 10 128113178 128113178 single base substitution A G downstream_gene_variant PACA-AU 10 128113787 128113787 single base substitution C A 3_prime_UTR_variant PACA-AU 10 128113787 128113787 single base substitution C A downstream_gene_variant PACA-AU 10 128118396 128118396 single base substitution G A missense_variant R183W 547C>T PACA-AU 10 128118396 128118396 single base substitution G A missense_variant R45W 133C>T PACA-AU 10 128118396 128118396 single base substitution G A missense_variant R544W 1630C>T PACA-AU 10 128118396 128118396 single base substitution G A missense_variant R594W 1780C>T PACA-AU 10 128118396 128118396 single base substitution G A missense_variant R641W 1921C>T PACA-AU 10 128118396 128118396 single base substitution G A missense_variant R738W 2212C>T PACA-AU 10 128120011 128120011 single base substitution C T intron_variant PACA-AU 10 128120835 128120835 single base substitution G T intron_variant PACA-AU 10 128123737 128123737 single base substitution G C intron_variant PACA-AU 10 128126249 128126249 single base substitution A T intron_variant PACA-AU 10 128126756 128126756 single base substitution C A intron_variant PACA-AU 10 128132398 128132398 single base substitution T A intron_variant PACA-AU 10 128133527 128133527 single base substitution G C intron_variant PACA-AU 10 128133528 128133528 single base substitution G T intron_variant PACA-AU 10 128134668 128134668 single base substitution C T intron_variant PACA-AU 10 128135140 128135140 single base substitution C A intron_variant PACA-AU 10 128138129 128138129 deletion of <=200bp A - intron_variant PACA-AU 10 128138165 128138165 single base substitution C G intron_variant PACA-AU 10 128138295 128138295 single base substitution C T intron_variant PACA-AU 10 128139957 128139957 single base substitution G A intron_variant PACA-AU 10 128142093 128142093 single base substitution G A intron_variant PACA-AU 10 128145981 128145981 single base substitution G A intron_variant PACA-AU 10 128147055 128147055 single base substitution C A intron_variant PACA-AU 10 128147618 128147618 single base substitution G T missense_variant P172T 514C>A PACA-AU 10 128147618 128147618 single base substitution G T missense_variant P34T 100C>A PACA-AU 10 128147618 128147618 single base substitution G T missense_variant P533T 1597C>A PACA-AU 10 128147618 128147618 single base substitution G T missense_variant P583T 1747C>A PACA-AU 10 128147618 128147618 single base substitution G T missense_variant P630T 1888C>A PACA-AU 10 128147618 128147618 single base substitution G T missense_variant P727T 2179C>A PACA-AU 10 128147738 128147738 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 10 128147738 128147738 single base substitution G A missense_variant R132W 394C>T PACA-AU 10 128147738 128147738 single base substitution G A missense_variant R493W 1477C>T PACA-AU 10 128147738 128147738 single base substitution G A missense_variant R543W 1627C>T PACA-AU 10 128147738 128147738 single base substitution G A missense_variant R590W 1768C>T PACA-AU 10 128147738 128147738 single base substitution G A missense_variant R687W 2059C>T PACA-AU 10 128148165 128148165 single base substitution G T intron_variant PACA-AU 10 128150098 128150098 single base substitution C T 5_prime_UTR_variant PACA-AU 10 128150098 128150098 single base substitution C T missense_variant D434N 1300G>A PACA-AU 10 128150098 128150098 single base substitution C T missense_variant D484N 1450G>A PACA-AU 10 128150098 128150098 single base substitution C T missense_variant D531N 1591G>A PACA-AU 10 128150098 128150098 single base substitution C T missense_variant D628N 1882G>A PACA-AU 10 128150098 128150098 single base substitution C T missense_variant D73N 217G>A PACA-AU 10 128152311 128152313 deletion of <=200bp CCT - intron_variant PACA-AU 10 128152311 128152313 deletion of <=200bp CCT - upstream_gene_variant PACA-AU 10 128153108 128153108 single base substitution T G intron_variant PACA-AU 10 128153108 128153108 single base substitution T G upstream_gene_variant PACA-AU 10 128155363 128155363 single base substitution A G intron_variant PACA-AU 10 128155363 128155363 single base substitution A G upstream_gene_variant PACA-AU 10 128155377 128155377 single base substitution A G intron_variant PACA-AU 10 128155377 128155377 single base substitution A G upstream_gene_variant PACA-AU 10 128155683 128155683 single base substitution G A intron_variant PACA-AU 10 128155683 128155683 single base substitution G A upstream_gene_variant PACA-AU 10 128160495 128160495 single base substitution A C intron_variant PACA-AU 10 128164068 128164068 single base substitution G A intron_variant PACA-AU 10 128165643 128165643 single base substitution T A intron_variant PACA-AU 10 128166847 128166847 single base substitution C T intron_variant PACA-AU 10 128166951 128166951 single base substitution C T intron_variant PACA-AU 10 128166983 128166983 single base substitution C A intron_variant PACA-AU 10 128170403 128170403 single base substitution T G intron_variant PACA-AU 10 128172284 128172284 insertion of <=200bp - TTGTCAC intron_variant PACA-AU 10 128173449 128173449 single base substitution C T intron_variant PACA-AU 10 128174235 128174235 single base substitution C T intron_variant PACA-AU 10 128176845 128176845 single base substitution G C intron_variant PACA-AU 10 128177542 128177542 single base substitution C A intron_variant PACA-AU 10 128178598 128178598 single base substitution A T intron_variant PACA-AU 10 128178796 128178796 single base substitution G A intron_variant PACA-AU 10 128179457 128179457 single base substitution C T intron_variant PACA-AU 10 128180259 128180259 single base substitution G A intron_variant PACA-AU 10 128182168 128182168 insertion of <=200bp - T intron_variant PACA-AU 10 128182176 128182176 single base substitution C T intron_variant PACA-AU 10 128182518 128182518 single base substitution G A intron_variant PACA-AU 10 128183027 128183027 single base substitution G T intron_variant PACA-AU 10 128183542 128183542 single base substitution T C intron_variant PACA-AU 10 128185405 128185405 single base substitution C A intron_variant PACA-AU 10 128186241 128186241 deletion of <=200bp G - downstream_gene_variant PACA-AU 10 128186241 128186241 deletion of <=200bp G - intron_variant PACA-AU 10 128187600 128187600 single base substitution T G downstream_gene_variant PACA-AU 10 128187600 128187600 single base substitution T G intron_variant PACA-AU 10 128187626 128187626 single base substitution A T downstream_gene_variant PACA-AU 10 128187626 128187626 single base substitution A T intron_variant PACA-AU 10 128188359 128188359 single base substitution C T downstream_gene_variant PACA-AU 10 128188359 128188359 single base substitution C T intron_variant PACA-AU 10 128190686 128190686 single base substitution A C downstream_gene_variant PACA-AU 10 128190686 128190686 single base substitution A C intron_variant PACA-AU 10 128191310 128191310 single base substitution G A downstream_gene_variant PACA-AU 10 128191310 128191310 single base substitution G A exon_variant PACA-AU 10 128191310 128191310 single base substitution G A intron_variant PACA-AU 10 128191747 128191747 single base substitution G T downstream_gene_variant PACA-AU 10 128191747 128191747 single base substitution G T intron_variant PACA-AU 10 128192821 128192821 single base substitution G A downstream_gene_variant PACA-AU 10 128192821 128192821 single base substitution G A exon_variant PACA-AU 10 128192821 128192821 single base substitution G A synonymous_variant S269S 807C>T PACA-AU 10 128192821 128192821 single base substitution G A synonymous_variant S316S 948C>T PACA-AU 10 128192821 128192821 single base substitution G A synonymous_variant S413S 1239C>T PACA-AU 10 128192821 128192821 single base substitution G A upstream_gene_variant PACA-AU 10 128193332 128193332 single base substitution C T downstream_gene_variant PACA-AU 10 128193332 128193332 single base substitution C T exon_variant PACA-AU 10 128193332 128193332 single base substitution C T missense_variant R146H 437G>A PACA-AU 10 128193332 128193332 single base substitution C T missense_variant R243H 728G>A PACA-AU 10 128193332 128193332 single base substitution C T missense_variant R99H 296G>A PACA-AU 10 128193332 128193332 single base substitution C T upstream_gene_variant PACA-AU 10 128195183 128195190 deletion of <=200bp GGCACCCA - intron_variant PACA-AU 10 128195183 128195190 deletion of <=200bp GGCACCCA - upstream_gene_variant PACA-AU 10 128195799 128195799 single base substitution G A intron_variant PACA-AU 10 128195799 128195799 single base substitution G A upstream_gene_variant PACA-AU 10 128196176 128196176 single base substitution G A intron_variant PACA-AU 10 128196176 128196176 single base substitution G A upstream_gene_variant PACA-AU 10 128199133 128199133 single base substitution G A intron_variant PACA-AU 10 128199639 128199639 single base substitution G A intron_variant PACA-AU 10 128200311 128200311 single base substitution G A intron_variant PACA-AU 10 128200579 128200579 single base substitution G C intron_variant PACA-AU 10 128201258 128201258 single base substitution A G intron_variant PACA-AU 10 128202061 128202061 single base substitution C G intron_variant PACA-AU 10 128208080 128208080 single base substitution G A intron_variant PACA-AU 10 128208671 128208671 single base substitution G A intron_variant PACA-AU 10 128211958 128211958 single base substitution A T intron_variant PACA-AU 10 128211958 128211958 single base substitution A T upstream_gene_variant PACA-AU 10 128212708 128212708 single base substitution T A intron_variant PACA-AU 10 128212708 128212708 single base substitution T A upstream_gene_variant PACA-AU 10 128213438 128213438 single base substitution C T intron_variant PACA-AU 10 128213438 128213438 single base substitution C T upstream_gene_variant PACA-AU 10 128213691 128213691 single base substitution G A intron_variant PACA-AU 10 128213691 128213691 single base substitution G A upstream_gene_variant PACA-AU 10 128217082 128217082 single base substitution G A intron_variant PACA-AU 10 128217082 128217082 single base substitution G A upstream_gene_variant PACA-AU 10 128217330 128217330 single base substitution C A intron_variant PACA-AU 10 128217330 128217330 single base substitution C A upstream_gene_variant PACA-AU 10 128218535 128218535 single base substitution C T intron_variant PACA-AU 10 128218602 128218602 insertion of <=200bp - A intron_variant PACA-AU 10 128218937 128218937 single base substitution G T intron_variant PACA-AU 10 128221172 128221172 single base substitution C T intron_variant PACA-AU 10 128221662 128221662 single base substitution C T intron_variant PACA-AU 10 128225301 128225301 single base substitution G A intron_variant PACA-AU 10 128227528 128227528 single base substitution G A intron_variant PACA-AU 10 128229646 128229646 single base substitution G A intron_variant PACA-AU 10 128231847 128231847 single base substitution C G intron_variant PACA-AU 10 128234672 128234672 deletion of <=200bp G - intron_variant PACA-AU 10 128235061 128235061 single base substitution C A intron_variant PACA-AU 10 128235869 128235869 single base substitution T A intron_variant PACA-AU 10 128236664 128236664 single base substitution T G intron_variant PACA-AU 10 128237627 128237627 single base substitution A T intron_variant PACA-AU 10 128239945 128239945 single base substitution G T intron_variant PACA-AU 10 128241841 128241841 single base substitution C G intron_variant PACA-AU 10 128242634 128242634 insertion of <=200bp - CA intron_variant PACA-AU 10 128253003 128253003 single base substitution C T intron_variant PACA-AU 10 128253401 128253401 single base substitution C A intron_variant PACA-AU 10 128256301 128256301 single base substitution C G intron_variant PACA-AU 10 128256928 128256928 single base substitution G A intron_variant PACA-AU 10 128258282 128258282 single base substitution G C intron_variant PACA-AU 10 128258776 128258776 single base substitution G T intron_variant PACA-AU 10 128259100 128259100 single base substitution G A intron_variant PACA-AU 10 128259879 128259879 single base substitution G A intron_variant PACA-AU 10 128261759 128261759 single base substitution G A intron_variant PACA-AU 10 128265991 128265991 single base substitution C A intron_variant PACA-AU 10 128266003 128266003 single base substitution A T intron_variant PACA-AU 10 128268212 128268212 single base substitution G T intron_variant PACA-AU 10 128269414 128269414 single base substitution G T intron_variant PACA-AU 10 128270570 128270570 single base substitution C A intron_variant PACA-AU 10 128271000 128271000 single base substitution C T intron_variant PACA-AU 10 128273389 128273389 single base substitution G A intron_variant PACA-AU 10 128274858 128274858 single base substitution G A intron_variant PACA-AU 10 128275026 128275026 single base substitution C T intron_variant PACA-AU 10 128278832 128278832 single base substitution C T intron_variant PACA-AU 10 128279411 128279411 single base substitution T A intron_variant PACA-AU 10 128281263 128281263 single base substitution G T intron_variant PACA-AU 10 128281447 128281447 single base substitution G C intron_variant PACA-AU 10 128282037 128282037 single base substitution T A intron_variant PACA-AU 10 128282288 128282288 single base substitution G T intron_variant PACA-AU 10 128283287 128283287 single base substitution C T intron_variant PACA-AU 10 128283592 128283592 single base substitution A G intron_variant PACA-AU 10 128283602 128283602 single base substitution T C intron_variant PACA-AU 10 128287188 128287188 single base substitution A G intron_variant PACA-AU 10 128287894 128287894 single base substitution A G intron_variant PACA-AU 10 128288585 128288585 single base substitution C A intron_variant PACA-AU 10 128290649 128290649 single base substitution C T intron_variant PACA-AU 10 128294955 128294955 single base substitution C T intron_variant PACA-AU 10 128295256 128295256 single base substitution G A intron_variant PACA-AU 10 128295876 128295876 single base substitution G A intron_variant PACA-AU 10 128298085 128298085 single base substitution G A intron_variant PACA-AU 10 128298351 128298351 single base substitution C T intron_variant PACA-AU 10 128299096 128299096 single base substitution C T intron_variant PACA-AU 10 128299622 128299622 single base substitution C G intron_variant PACA-AU 10 128300759 128300759 single base substitution G A intron_variant PACA-AU 10 128301497 128301497 single base substitution G A intron_variant PACA-AU 10 128302237 128302237 single base substitution G T intron_variant PACA-AU 10 128304056 128304056 deletion of <=200bp A - intron_variant PACA-AU 10 128304175 128304175 insertion of <=200bp - C intron_variant PACA-AU 10 128305792 128305792 single base substitution C T intron_variant PACA-AU 10 128306476 128306476 single base substitution G T intron_variant PACA-AU 10 128306700 128306700 single base substitution T G intron_variant PACA-AU 10 128307043 128307043 single base substitution C G intron_variant PACA-AU 10 128310373 128310373 single base substitution G T intron_variant PACA-AU 10 128310420 128310420 single base substitution C T intron_variant PACA-AU 10 128310499 128310499 single base substitution C T intron_variant PACA-AU 10 128311100 128311100 single base substitution G C intron_variant PACA-AU 10 128311187 128311187 single base substitution G T intron_variant PACA-AU 10 128311951 128311951 single base substitution T G intron_variant PACA-AU 10 128312635 128312635 single base substitution G A intron_variant PACA-AU 10 128312717 128312717 single base substitution C T intron_variant PACA-AU 10 128318062 128318062 single base substitution G A intron_variant PACA-AU 10 128318586 128318586 single base substitution A G intron_variant PACA-AU 10 128320061 128320061 single base substitution G A intron_variant PACA-AU 10 128320781 128320781 single base substitution C A intron_variant PACA-AU 10 128320835 128320835 single base substitution G A intron_variant PACA-AU 10 128321748 128321748 single base substitution G C intron_variant PACA-AU 10 128325701 128325701 single base substitution G A intron_variant PACA-AU 10 128326107 128326107 single base substitution G T intron_variant PACA-AU 10 128328878 128328878 single base substitution A T intron_variant PACA-AU 10 128331253 128331253 single base substitution G A intron_variant PACA-AU 10 128332146 128332146 single base substitution G A intron_variant PACA-AU 10 128333156 128333156 single base substitution A C intron_variant PACA-AU 10 128335377 128335377 single base substitution C A intron_variant PACA-AU 10 128336973 128336973 single base substitution A C intron_variant PACA-AU 10 128338757 128338757 single base substitution G T intron_variant PACA-AU 10 128340053 128340053 single base substitution T A intron_variant PACA-AU 10 128344655 128344655 single base substitution G C intron_variant PACA-AU 10 128344745 128344745 single base substitution G A intron_variant PACA-AU 10 128345356 128345356 single base substitution T C intron_variant PACA-AU 10 128345871 128345871 single base substitution G A intron_variant PACA-AU 10 128348030 128348030 single base substitution C T intron_variant PACA-AU 10 128349009 128349009 single base substitution C T intron_variant PACA-AU 10 128351160 128351160 single base substitution G A intron_variant PACA-AU 10 128351926 128351926 single base substitution G A intron_variant PACA-AU 10 128354045 128354045 single base substitution G A intron_variant PACA-AU 10 128354427 128354427 single base substitution A G intron_variant PACA-AU 10 128354442 128354442 single base substitution G T intron_variant PACA-AU 10 128355318 128355318 single base substitution C T intron_variant PACA-AU 10 128356843 128356843 single base substitution A G intron_variant PACA-AU 10 128357430 128357430 single base substitution T A intron_variant PACA-AU 10 128360223 128360223 single base substitution A T upstream_gene_variant PACA-AU 10 128363954 128363954 single base substitution C A upstream_gene_variant PACA-CA 10 128109617 128109617 single base substitution C T downstream_gene_variant PACA-CA 10 128110898 128110898 single base substitution C A downstream_gene_variant PACA-CA 10 128111224 128111224 deletion of <=200bp A - downstream_gene_variant PACA-CA 10 128111589 128111589 single base substitution G A downstream_gene_variant PACA-CA 10 128112904 128112904 single base substitution T A downstream_gene_variant PACA-CA 10 128113188 128113188 single base substitution G T downstream_gene_variant PACA-CA 10 128113279 128113279 single base substitution C T downstream_gene_variant PACA-CA 10 128113368 128113368 single base substitution C A downstream_gene_variant PACA-CA 10 128116652 128116652 single base substitution A T intron_variant PACA-CA 10 128117927 128117927 single base substitution G T intron_variant PACA-CA 10 128118314 128118314 deletion of <=200bp C - intron_variant PACA-CA 10 128119207 128119207 single base substitution G A intron_variant PACA-CA 10 128119933 128119933 single base substitution C A intron_variant PACA-CA 10 128121302 128121302 single base substitution C A intron_variant PACA-CA 10 128122632 128122632 single base substitution T C intron_variant PACA-CA 10 128123929 128123929 single base substitution G C intron_variant PACA-CA 10 128124667 128124667 single base substitution C T intron_variant PACA-CA 10 128125109 128125109 single base substitution G A intron_variant PACA-CA 10 128125187 128125187 single base substitution A C intron_variant PACA-CA 10 128125315 128125315 single base substitution C T intron_variant PACA-CA 10 128125344 128125344 single base substitution C T intron_variant PACA-CA 10 128127843 128127843 single base substitution C T intron_variant PACA-CA 10 128128124 128128124 deletion of <=200bp A - intron_variant PACA-CA 10 128128779 128128779 single base substitution G A intron_variant PACA-CA 10 128131088 128131088 single base substitution C A intron_variant PACA-CA 10 128131657 128131657 single base substitution C T intron_variant PACA-CA 10 128131658 128131658 single base substitution G A intron_variant PACA-CA 10 128131886 128131886 single base substitution G A intron_variant PACA-CA 10 128134374 128134374 single base substitution G A intron_variant PACA-CA 10 128135068 128135068 deletion of <=200bp A - intron_variant PACA-CA 10 128136132 128136132 single base substitution A G intron_variant PACA-CA 10 128136512 128136512 single base substitution C T intron_variant PACA-CA 10 128137280 128137280 single base substitution A C intron_variant PACA-CA 10 128141329 128141329 single base substitution C T intron_variant PACA-CA 10 128141404 128141404 deletion of <=200bp A - intron_variant PACA-CA 10 128142092 128142092 single base substitution C T intron_variant PACA-CA 10 128142612 128142612 single base substitution G A intron_variant PACA-CA 10 128143856 128143856 single base substitution G T intron_variant PACA-CA 10 128144155 128144155 single base substitution C T intron_variant PACA-CA 10 128144445 128144445 single base substitution G A intron_variant PACA-CA 10 128144536 128144536 single base substitution C T intron_variant PACA-CA 10 128144832 128144832 single base substitution G A intron_variant PACA-CA 10 128147179 128147179 single base substitution G T intron_variant PACA-CA 10 128147694 128147694 single base substitution C T synonymous_variant Q146Q 438G>A PACA-CA 10 128147694 128147694 single base substitution C T synonymous_variant Q507Q 1521G>A PACA-CA 10 128147694 128147694 single base substitution C T synonymous_variant Q557Q 1671G>A PACA-CA 10 128147694 128147694 single base substitution C T synonymous_variant Q604Q 1812G>A PACA-CA 10 128147694 128147694 single base substitution C T synonymous_variant Q701Q 2103G>A PACA-CA 10 128147694 128147694 single base substitution C T synonymous_variant Q8Q 24G>A PACA-CA 10 128147770 128147770 single base substitution C T 5_prime_UTR_variant PACA-CA 10 128147770 128147770 single base substitution C T missense_variant R121H 362G>A PACA-CA 10 128147770 128147770 single base substitution C T missense_variant R482H 1445G>A PACA-CA 10 128147770 128147770 single base substitution C T missense_variant R532H 1595G>A PACA-CA 10 128147770 128147770 single base substitution C T missense_variant R579H 1736G>A PACA-CA 10 128147770 128147770 single base substitution C T missense_variant R676H 2027G>A PACA-CA 10 128148335 128148335 single base substitution G T intron_variant PACA-CA 10 128149027 128149027 single base substitution C G intron_variant PACA-CA 10 128150703 128150703 single base substitution A T intron_variant PACA-CA 10 128151740 128151740 single base substitution C A intron_variant PACA-CA 10 128151911 128151911 single base substitution C T 5_prime_UTR_variant PACA-CA 10 128151911 128151911 single base substitution C T intron_variant PACA-CA 10 128153108 128153108 single base substitution T G intron_variant PACA-CA 10 128153108 128153108 single base substitution T G upstream_gene_variant PACA-CA 10 128153651 128153651 insertion of <=200bp - G intron_variant PACA-CA 10 128153651 128153651 insertion of <=200bp - G upstream_gene_variant PACA-CA 10 128158049 128158049 single base substitution C T intron_variant PACA-CA 10 128159945 128159945 single base substitution C T intron_variant PACA-CA 10 128163125 128163125 single base substitution T C intron_variant PACA-CA 10 128163247 128163247 single base substitution T A intron_variant PACA-CA 10 128164089 128164089 single base substitution G A intron_variant PACA-CA 10 128164671 128164671 single base substitution G A intron_variant PACA-CA 10 128166320 128166320 insertion of <=200bp - T intron_variant PACA-CA 10 128166541 128166541 single base substitution G A intron_variant PACA-CA 10 128169114 128169114 single base substitution C A intron_variant PACA-CA 10 128170332 128170332 single base substitution C A intron_variant PACA-CA 10 128170598 128170598 single base substitution T G intron_variant PACA-CA 10 128171170 128171170 single base substitution T C intron_variant PACA-CA 10 128173245 128173245 deletion of <=200bp A - intron_variant PACA-CA 10 128174033 128174033 single base substitution G T intron_variant PACA-CA 10 128174471 128174471 single base substitution G A intron_variant PACA-CA 10 128175365 128175365 single base substitution G T intron_variant PACA-CA 10 128176696 128176696 deletion of <=200bp A - intron_variant PACA-CA 10 128176987 128176987 single base substitution G T intron_variant PACA-CA 10 128176988 128176988 single base substitution C T intron_variant PACA-CA 10 128178825 128178825 single base substitution A G intron_variant PACA-CA 10 128179278 128179278 single base substitution T C intron_variant PACA-CA 10 128180030 128180030 insertion of <=200bp - A intron_variant PACA-CA 10 128180070 128180070 single base substitution T A intron_variant PACA-CA 10 128180215 128180215 single base substitution C T intron_variant PACA-CA 10 128184250 128184250 single base substitution T C intron_variant PACA-CA 10 128184837 128184837 insertion of <=200bp - A intron_variant PACA-CA 10 128186183 128186183 single base substitution A G intron_variant PACA-CA 10 128186970 128186970 single base substitution A G downstream_gene_variant PACA-CA 10 128186970 128186970 single base substitution A G intron_variant PACA-CA 10 128187990 128187990 deletion of <=200bp A - downstream_gene_variant PACA-CA 10 128187990 128187990 deletion of <=200bp A - intron_variant PACA-CA 10 128188383 128188383 single base substitution G A downstream_gene_variant PACA-CA 10 128188383 128188383 single base substitution G A intron_variant PACA-CA 10 128188910 128188910 single base substitution T C downstream_gene_variant PACA-CA 10 128188910 128188910 single base substitution T C intron_variant PACA-CA 10 128189297 128189297 single base substitution C T downstream_gene_variant PACA-CA 10 128189297 128189297 single base substitution C T intron_variant PACA-CA 10 128190427 128190427 single base substitution C T downstream_gene_variant PACA-CA 10 128190427 128190427 single base substitution C T intron_variant PACA-CA 10 128190436 128190436 single base substitution C T downstream_gene_variant PACA-CA 10 128190436 128190436 single base substitution C T intron_variant PACA-CA 10 128190522 128190534 deletion of <=200bp ACACACCACATAT - downstream_gene_variant PACA-CA 10 128190522 128190534 deletion of <=200bp ACACACCACATAT - intron_variant PACA-CA 10 128191440 128191462 deletion of <=200bp AAAGCCATGCCAAAATTGCCTTA - downstream_gene_variant PACA-CA 10 128191440 128191462 deletion of <=200bp AAAGCCATGCCAAAATTGCCTTA - intron_variant PACA-CA 10 128192583 128192583 single base substitution C T downstream_gene_variant PACA-CA 10 128192583 128192583 single base substitution C T exon_variant PACA-CA 10 128192583 128192583 single base substitution C T missense_variant A349T 1045G>A PACA-CA 10 128192583 128192583 single base substitution C T missense_variant A35T 103G>A PACA-CA 10 128192583 128192583 single base substitution C T missense_variant A396T 1186G>A PACA-CA 10 128192583 128192583 single base substitution C T missense_variant A493T 1477G>A PACA-CA 10 128193241 128193241 single base substitution C T downstream_gene_variant PACA-CA 10 128193241 128193241 single base substitution C T exon_variant PACA-CA 10 128193241 128193241 single base substitution C T synonymous_variant A129A 387G>A PACA-CA 10 128193241 128193241 single base substitution C T synonymous_variant A176A 528G>A PACA-CA 10 128193241 128193241 single base substitution C T synonymous_variant A273A 819G>A PACA-CA 10 128193241 128193241 single base substitution C T upstream_gene_variant PACA-CA 10 128194438 128194438 single base substitution G A intron_variant PACA-CA 10 128194438 128194438 single base substitution G A upstream_gene_variant PACA-CA 10 128194455 128194455 single base substitution G A intron_variant PACA-CA 10 128194455 128194455 single base substitution G A upstream_gene_variant PACA-CA 10 128195511 128195514 deletion of <=200bp GTGC - intron_variant PACA-CA 10 128195511 128195514 deletion of <=200bp GTGC - upstream_gene_variant PACA-CA 10 128197606 128197606 single base substitution G T intron_variant PACA-CA 10 128197606 128197606 single base substitution G T upstream_gene_variant PACA-CA 10 128198180 128198180 single base substitution T C intron_variant PACA-CA 10 128199384 128199384 single base substitution G A intron_variant PACA-CA 10 128199669 128199669 single base substitution T A intron_variant PACA-CA 10 128200051 128200051 single base substitution C T intron_variant PACA-CA 10 128200963 128200963 single base substitution G C intron_variant PACA-CA 10 128201528 128201528 single base substitution G A intron_variant PACA-CA 10 128202376 128202376 single base substitution G A intron_variant PACA-CA 10 128203769 128203769 single base substitution C T intron_variant PACA-CA 10 128204554 128204554 single base substitution G A intron_variant PACA-CA 10 128204967 128204967 single base substitution C G intron_variant PACA-CA 10 128205976 128205976 single base substitution T C intron_variant PACA-CA 10 128207767 128207767 single base substitution C T intron_variant PACA-CA 10 128208003 128208044 deletion of <=200bp TGGCAAATGCCCAGAGGCCTTCAGTCTGTTTAATAATTACAC - intron_variant PACA-CA 10 128208837 128208837 single base substitution C T 5_prime_UTR_variant PACA-CA 10 128208837 128208837 single base substitution C T intron_variant PACA-CA 10 128209113 128209113 single base substitution C T 5_prime_UTR_variant PACA-CA 10 128209113 128209113 single base substitution C T intron_variant PACA-CA 10 128210310 128210310 single base substitution T A intron_variant PACA-CA 10 128210310 128210310 single base substitution T A upstream_gene_variant PACA-CA 10 128212482 128212482 single base substitution T C intron_variant PACA-CA 10 128212482 128212482 single base substitution T C upstream_gene_variant PACA-CA 10 128213573 128213573 single base substitution G A intron_variant PACA-CA 10 128213573 128213573 single base substitution G A upstream_gene_variant PACA-CA 10 128215801 128215801 single base substitution G A intron_variant PACA-CA 10 128215801 128215801 single base substitution G A upstream_gene_variant PACA-CA 10 128217132 128217132 single base substitution A T intron_variant PACA-CA 10 128217132 128217132 single base substitution A T upstream_gene_variant PACA-CA 10 128218559 128218559 deletion of <=200bp A - intron_variant PACA-CA 10 128219034 128219034 single base substitution A G intron_variant PACA-CA 10 128219046 128219046 insertion of <=200bp - A intron_variant PACA-CA 10 128219918 128219918 single base substitution G A intron_variant PACA-CA 10 128221502 128221502 deletion of <=200bp T - intron_variant PACA-CA 10 128222002 128222002 single base substitution G A intron_variant PACA-CA 10 128222332 128222332 single base substitution C T intron_variant PACA-CA 10 128223238 128223238 single base substitution G A intron_variant PACA-CA 10 128223554 128223554 single base substitution G C intron_variant PACA-CA 10 128224551 128224551 single base substitution T A intron_variant PACA-CA 10 128225028 128225028 single base substitution G T intron_variant PACA-CA 10 128226068 128226068 single base substitution C T intron_variant PACA-CA 10 128227464 128227464 single base substitution C A intron_variant PACA-CA 10 128227484 128227484 single base substitution G A intron_variant PACA-CA 10 128229089 128229089 single base substitution G A intron_variant PACA-CA 10 128229987 128229987 single base substitution A C intron_variant PACA-CA 10 128230042 128230042 single base substitution A T intron_variant PACA-CA 10 128230133 128230133 single base substitution G T intron_variant PACA-CA 10 128231111 128231111 single base substitution A C intron_variant PACA-CA 10 128231715 128231715 single base substitution T C intron_variant PACA-CA 10 128233572 128233572 single base substitution G C intron_variant PACA-CA 10 128235735 128235735 single base substitution T C intron_variant PACA-CA 10 128238330 128238330 single base substitution A T intron_variant PACA-CA 10 128240755 128240755 single base substitution C T intron_variant PACA-CA 10 128242345 128242345 single base substitution C T intron_variant PACA-CA 10 128242491 128242491 single base substitution C T intron_variant PACA-CA 10 128243263 128243263 single base substitution T C intron_variant PACA-CA 10 128244925 128244925 single base substitution G A intron_variant PACA-CA 10 128245566 128245573 deletion of <=200bp CAATTAAT - intron_variant PACA-CA 10 128246269 128246269 single base substitution C G intron_variant PACA-CA 10 128248158 128248158 single base substitution C A intron_variant PACA-CA 10 128248392 128248392 single base substitution G A intron_variant PACA-CA 10 128248471 128248471 single base substitution C G intron_variant PACA-CA 10 128249519 128249519 single base substitution A G intron_variant PACA-CA 10 128249744 128249744 insertion of <=200bp - A intron_variant PACA-CA 10 128249923 128249923 single base substitution C G intron_variant PACA-CA 10 128249959 128249959 single base substitution T C intron_variant PACA-CA 10 128250134 128250134 single base substitution A G intron_variant PACA-CA 10 128250601 128250601 single base substitution G C intron_variant PACA-CA 10 128250959 128250959 single base substitution C T intron_variant PACA-CA 10 128251810 128251810 single base substitution G A intron_variant PACA-CA 10 128254178 128254178 single base substitution G T intron_variant PACA-CA 10 128255553 128255553 single base substitution C T intron_variant PACA-CA 10 128255879 128255879 single base substitution G A intron_variant PACA-CA 10 128256173 128256173 single base substitution C T intron_variant PACA-CA 10 128257493 128257493 single base substitution A C intron_variant PACA-CA 10 128259509 128259509 single base substitution C T intron_variant PACA-CA 10 128259771 128259771 single base substitution A T intron_variant PACA-CA 10 128259806 128259806 single base substitution G C intron_variant PACA-CA 10 128260048 128260048 single base substitution C A intron_variant PACA-CA 10 128260250 128260250 single base substitution G T intron_variant PACA-CA 10 128261943 128261943 single base substitution G A intron_variant PACA-CA 10 128262560 128262560 single base substitution C T intron_variant PACA-CA 10 128262927 128262927 single base substitution G A intron_variant PACA-CA 10 128263805 128263805 single base substitution T A intron_variant PACA-CA 10 128266015 128266015 single base substitution C A intron_variant PACA-CA 10 128267199 128267199 single base substitution G A intron_variant PACA-CA 10 128268048 128268048 single base substitution G T intron_variant PACA-CA 10 128268254 128268254 single base substitution G A intron_variant PACA-CA 10 128268465 128268465 single base substitution G A intron_variant PACA-CA 10 128268792 128268792 single base substitution G A intron_variant PACA-CA 10 128269095 128269095 single base substitution G A intron_variant PACA-CA 10 128269239 128269239 single base substitution C T intron_variant PACA-CA 10 128275021 128275021 single base substitution C T intron_variant PACA-CA 10 128275881 128275881 single base substitution G A intron_variant PACA-CA 10 128278265 128278265 single base substitution C T intron_variant PACA-CA 10 128281117 128281117 single base substitution T A intron_variant PACA-CA 10 128281313 128281313 single base substitution G A intron_variant PACA-CA 10 128281418 128281418 single base substitution A G intron_variant PACA-CA 10 128281934 128281934 single base substitution A C intron_variant PACA-CA 10 128281994 128281994 single base substitution C T intron_variant PACA-CA 10 128282185 128282185 single base substitution G T intron_variant PACA-CA 10 128284766 128284766 single base substitution G T intron_variant PACA-CA 10 128286607 128286607 single base substitution G A intron_variant PACA-CA 10 128287638 128287638 single base substitution C A intron_variant PACA-CA 10 128289911 128289911 single base substitution C A intron_variant PACA-CA 10 128290519 128290519 single base substitution T C intron_variant PACA-CA 10 128290636 128290636 single base substitution C T intron_variant PACA-CA 10 128291806 128291806 single base substitution G A intron_variant PACA-CA 10 128292299 128292299 single base substitution A T intron_variant PACA-CA 10 128292950 128292950 single base substitution C A intron_variant PACA-CA 10 128293803 128293803 single base substitution G A intron_variant PACA-CA 10 128294627 128294627 single base substitution A G intron_variant PACA-CA 10 128295046 128295046 single base substitution G A intron_variant PACA-CA 10 128295987 128295987 single base substitution T C intron_variant PACA-CA 10 128296129 128296129 single base substitution G A intron_variant PACA-CA 10 128296918 128296918 single base substitution C T intron_variant PACA-CA 10 128297041 128297041 single base substitution G A intron_variant PACA-CA 10 128298032 128298032 single base substitution A C intron_variant PACA-CA 10 128300748 128300748 single base substitution C T intron_variant PACA-CA 10 128301461 128301461 single base substitution G C intron_variant PACA-CA 10 128301880 128301880 single base substitution C T intron_variant PACA-CA 10 128302169 128302169 single base substitution C A intron_variant PACA-CA 10 128302348 128302348 single base substitution G A intron_variant PACA-CA 10 128302643 128302643 single base substitution G A intron_variant PACA-CA 10 128303240 128303240 single base substitution C T intron_variant PACA-CA 10 128304062 128304062 single base substitution A G intron_variant PACA-CA 10 128304377 128304377 single base substitution C T intron_variant PACA-CA 10 128304382 128304382 single base substitution C T intron_variant PACA-CA 10 128304485 128304485 single base substitution G T intron_variant PACA-CA 10 128304570 128304570 single base substitution C T intron_variant PACA-CA 10 128309710 128309710 single base substitution A G intron_variant PACA-CA 10 128313956 128313956 single base substitution A T intron_variant PACA-CA 10 128314449 128314449 single base substitution C T intron_variant PACA-CA 10 128314738 128314738 single base substitution G A intron_variant PACA-CA 10 128314742 128314742 single base substitution A T intron_variant PACA-CA 10 128315332 128315332 single base substitution G T intron_variant PACA-CA 10 128316993 128316993 deletion of <=200bp A - intron_variant PACA-CA 10 128317094 128317094 single base substitution T G intron_variant PACA-CA 10 128317654 128317654 single base substitution A G intron_variant PACA-CA 10 128317666 128317666 single base substitution T C intron_variant PACA-CA 10 128317849 128317849 single base substitution C T intron_variant PACA-CA 10 128322149 128322149 single base substitution C T intron_variant PACA-CA 10 128322546 128322546 single base substitution C T intron_variant PACA-CA 10 128323813 128323813 single base substitution G A intron_variant PACA-CA 10 128324286 128324286 single base substitution G A intron_variant PACA-CA 10 128325356 128325356 deletion of <=200bp A - intron_variant PACA-CA 10 128325845 128325845 single base substitution G A intron_variant PACA-CA 10 128326691 128326691 single base substitution G A intron_variant PACA-CA 10 128327420 128327420 single base substitution C T intron_variant PACA-CA 10 128328194 128328194 single base substitution G A intron_variant PACA-CA 10 128330654 128330654 single base substitution C G intron_variant PACA-CA 10 128331088 128331088 single base substitution G A intron_variant PACA-CA 10 128332474 128332474 single base substitution C T intron_variant PACA-CA 10 128334353 128334353 single base substitution T C intron_variant PACA-CA 10 128335502 128335502 single base substitution C G intron_variant PACA-CA 10 128336245 128336245 single base substitution C T intron_variant PACA-CA 10 128338026 128338026 single base substitution A G intron_variant PACA-CA 10 128339114 128339114 single base substitution C T intron_variant PACA-CA 10 128343062 128343062 single base substitution T A intron_variant PACA-CA 10 128346729 128346729 single base substitution G A intron_variant PACA-CA 10 128348390 128348390 single base substitution C T intron_variant PACA-CA 10 128348773 128348773 single base substitution C T intron_variant PACA-CA 10 128353041 128353041 single base substitution C T intron_variant PACA-CA 10 128354166 128354166 single base substitution G A intron_variant PACA-CA 10 128354285 128354285 single base substitution G C intron_variant PACA-CA 10 128355481 128355481 single base substitution G A intron_variant PACA-CA 10 128356252 128356252 single base substitution C T intron_variant PACA-CA 10 128359394 128359394 single base substitution G A upstream_gene_variant PACA-CA 10 128359685 128359685 single base substitution C T upstream_gene_variant PACA-CA 10 128359823 128359823 single base substitution A G upstream_gene_variant PACA-CA 10 128359948 128359948 single base substitution T C upstream_gene_variant PACA-CA 10 128360020 128360020 single base substitution G T upstream_gene_variant PACA-CA 10 128361423 128361423 single base substitution C A upstream_gene_variant PACA-CA 10 128361909 128361909 single base substitution A C upstream_gene_variant PACA-CA 10 128362696 128362696 single base substitution A C upstream_gene_variant PAEN-AU 10 128109616 128109616 single base substitution G A downstream_gene_variant PAEN-AU 10 128133302 128133302 single base substitution A G intron_variant PAEN-AU 10 128188553 128188553 single base substitution G C downstream_gene_variant PAEN-AU 10 128188553 128188553 single base substitution G C intron_variant PAEN-AU 10 128227169 128227169 single base substitution A G intron_variant PAEN-AU 10 128267639 128267639 single base substitution T A intron_variant PAEN-AU 10 128294573 128294573 single base substitution T C intron_variant PAEN-AU 10 128300206 128300206 single base substitution C G intron_variant PAEN-AU 10 128300748 128300748 single base substitution C T intron_variant PAEN-AU 10 128305074 128305074 single base substitution T G intron_variant PAEN-AU 10 128305117 128305117 single base substitution C T intron_variant PAEN-AU 10 128320930 128320930 single base substitution C T intron_variant PAEN-AU 10 128328668 128328668 single base substitution G A intron_variant PAEN-IT 10 128159984 128159984 single base substitution C T intron_variant PAEN-IT 10 128162725 128162725 single base substitution C T intron_variant PAEN-IT 10 128292091 128292091 single base substitution C T intron_variant PAEN-IT 10 128302339 128302339 single base substitution C A intron_variant PAEN-IT 10 128321731 128321731 single base substitution G T intron_variant PAEN-IT 10 128328286 128328286 single base substitution C A intron_variant PAEN-IT 10 128353618 128353618 single base substitution C G intron_variant PAEN-IT 10 128361854 128361854 single base substitution G A upstream_gene_variant PBCA-DE 10 128109472 128109472 insertion of <=200bp - T downstream_gene_variant PBCA-DE 10 128111442 128111442 single base substitution G A downstream_gene_variant PBCA-DE 10 128117600 128117600 single base substitution C T intron_variant PBCA-DE 10 128126017 128126017 single base substitution T C intron_variant PBCA-DE 10 128135065 128135065 single base substitution G A intron_variant PBCA-DE 10 128151585 128151585 single base substitution A C intron_variant PBCA-DE 10 128154331 128154331 single base substitution T C intron_variant PBCA-DE 10 128154331 128154331 single base substitution T C upstream_gene_variant PBCA-DE 10 128154941 128154942 deletion of <=200bp AC - intron_variant PBCA-DE 10 128154941 128154942 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 10 128162555 128162555 single base substitution G T intron_variant PBCA-DE 10 128172832 128172832 single base substitution G A intron_variant PBCA-DE 10 128174346 128174346 deletion of <=200bp A - intron_variant PBCA-DE 10 128180031 128180031 insertion of <=200bp - A intron_variant PBCA-DE 10 128211458 128211458 single base substitution C T exon_variant PBCA-DE 10 128211458 128211458 single base substitution C T intron_variant PBCA-DE 10 128211458 128211458 single base substitution C T upstream_gene_variant PBCA-DE 10 128218515 128218515 single base substitution C A intron_variant PBCA-DE 10 128218895 128218895 insertion of <=200bp - A intron_variant PBCA-DE 10 128219393 128219393 insertion of <=200bp - A intron_variant PBCA-DE 10 128225301 128225301 single base substitution G A intron_variant PBCA-DE 10 128227178 128227178 single base substitution C T intron_variant PBCA-DE 10 128229500 128229500 single base substitution A C intron_variant PBCA-DE 10 128247916 128247916 single base substitution C G intron_variant PBCA-DE 10 128249373 128249373 single base substitution G A intron_variant PBCA-DE 10 128258181 128258183 deletion of <=200bp AGC - intron_variant PBCA-DE 10 128258552 128258552 single base substitution C T intron_variant PBCA-DE 10 128265328 128265328 insertion of <=200bp - TCT intron_variant PBCA-DE 10 128270167 128270167 single base substitution C A intron_variant PBCA-DE 10 128287931 128287931 insertion of <=200bp - T intron_variant PBCA-DE 10 128289815 128289815 single base substitution G A intron_variant PBCA-DE 10 128292959 128292959 single base substitution C A intron_variant PBCA-DE 10 128294564 128294564 single base substitution G T intron_variant PBCA-DE 10 128298409 128298409 single base substitution G A intron_variant PBCA-DE 10 128305275 128305275 single base substitution T C intron_variant PBCA-DE 10 128307466 128307466 deletion of <=200bp T - intron_variant PBCA-DE 10 128310601 128310601 single base substitution G A intron_variant PBCA-DE 10 128314503 128314503 single base substitution G C intron_variant PBCA-DE 10 128319500 128319500 single base substitution G A intron_variant PBCA-DE 10 128335065 128335065 insertion of <=200bp - AG intron_variant PBCA-DE 10 128336820 128336820 single base substitution C A intron_variant PBCA-DE 10 128340212 128340212 single base substitution G T intron_variant PBCA-DE 10 128341818 128341818 single base substitution G A intron_variant PBCA-DE 10 128343892 128343892 insertion of <=200bp - T intron_variant PBCA-DE 10 128348672 128348672 single base substitution T A intron_variant PRAD-CA 10 128120474 128120474 single base substitution T C intron_variant PRAD-CA 10 128123343 128123343 single base substitution C G intron_variant PRAD-CA 10 128161806 128161806 single base substitution G A intron_variant PRAD-CA 10 128168270 128168270 single base substitution T G intron_variant PRAD-CA 10 128183324 128183324 single base substitution A G intron_variant PRAD-CA 10 128196761 128196761 single base substitution T A intron_variant PRAD-CA 10 128196761 128196761 single base substitution T A upstream_gene_variant PRAD-CA 10 128200931 128200931 single base substitution G A intron_variant PRAD-CA 10 128220032 128220032 single base substitution G T intron_variant PRAD-CA 10 128248981 128248981 single base substitution C T intron_variant PRAD-CA 10 128265229 128265229 single base substitution T G intron_variant PRAD-CA 10 128300838 128300838 single base substitution C T intron_variant PRAD-CA 10 128303298 128303298 single base substitution G A intron_variant PRAD-CA 10 128330182 128330182 single base substitution C T intron_variant PRAD-CA 10 128336642 128336642 single base substitution G A intron_variant PRAD-CA 10 128341579 128341579 single base substitution G T intron_variant PRAD-CA 10 128346189 128346189 single base substitution C T intron_variant PRAD-UK 10 128110594 128110594 single base substitution G T downstream_gene_variant PRAD-UK 10 128116164 128116164 insertion of <=200bp - T intron_variant PRAD-UK 10 128125474 128125474 single base substitution C T intron_variant PRAD-UK 10 128132279 128132279 single base substitution G C intron_variant PRAD-UK 10 128138715 128138715 single base substitution A G intron_variant PRAD-UK 10 128143267 128143267 single base substitution A G intron_variant PRAD-UK 10 128150700 128150700 single base substitution G T intron_variant PRAD-UK 10 128158804 128158804 single base substitution G T intron_variant PRAD-UK 10 128166952 128166952 single base substitution G A intron_variant PRAD-UK 10 128177736 128177736 single base substitution A T intron_variant PRAD-UK 10 128190446 128190446 single base substitution T A downstream_gene_variant PRAD-UK 10 128190446 128190446 single base substitution T A intron_variant PRAD-UK 10 128191324 128191324 single base substitution G T downstream_gene_variant PRAD-UK 10 128191324 128191324 single base substitution G T exon_variant PRAD-UK 10 128191324 128191324 single base substitution G T intron_variant PRAD-UK 10 128201560 128201560 single base substitution T G intron_variant PRAD-UK 10 128203812 128203812 single base substitution T C intron_variant PRAD-UK 10 128214931 128214931 single base substitution A C intron_variant PRAD-UK 10 128214931 128214931 single base substitution A C upstream_gene_variant PRAD-UK 10 128215482 128215482 single base substitution G T intron_variant PRAD-UK 10 128215482 128215482 single base substitution G T upstream_gene_variant PRAD-UK 10 128217075 128217075 single base substitution T A intron_variant PRAD-UK 10 128217075 128217075 single base substitution T A upstream_gene_variant PRAD-UK 10 128222002 128222002 single base substitution G A intron_variant PRAD-UK 10 128232386 128232386 single base substitution G C intron_variant PRAD-UK 10 128236395 128236395 single base substitution A G intron_variant PRAD-UK 10 128239750 128239750 single base substitution C T intron_variant PRAD-UK 10 128243358 128243358 single base substitution C A intron_variant PRAD-UK 10 128263632 128263632 single base substitution A T intron_variant PRAD-UK 10 128273801 128273801 single base substitution T G intron_variant PRAD-UK 10 128274783 128274783 single base substitution T C intron_variant PRAD-UK 10 128275574 128275574 single base substitution C A intron_variant PRAD-UK 10 128278493 128278493 single base substitution A C intron_variant PRAD-UK 10 128287242 128287242 single base substitution A C intron_variant PRAD-UK 10 128293833 128293833 single base substitution G A intron_variant PRAD-UK 10 128303018 128303018 single base substitution A C intron_variant PRAD-UK 10 128304429 128304429 single base substitution G A intron_variant PRAD-UK 10 128318523 128318523 single base substitution C T intron_variant PRAD-UK 10 128327129 128327129 single base substitution C T intron_variant PRAD-UK 10 128332780 128332784 multiple base substitution (>=2bp and <=200bp) GTTCC GA intron_variant PRAD-UK 10 128341081 128341081 single base substitution C T intron_variant PRAD-UK 10 128351723 128351723 single base substitution A G intron_variant PRAD-UK 10 128354800 128354800 single base substitution G C intron_variant PRAD-UK 10 128362998 128362998 single base substitution G A upstream_gene_variant PRAD-US 10 128147783 128147783 single base substitution C T 5_prime_UTR_variant PRAD-US 10 128147783 128147783 single base substitution C T missense_variant A117T 349G>A PRAD-US 10 128147783 128147783 single base substitution C T missense_variant A478T 1432G>A PRAD-US 10 128147783 128147783 single base substitution C T missense_variant A528T 1582G>A PRAD-US 10 128147783 128147783 single base substitution C T missense_variant A575T 1723G>A PRAD-US 10 128147783 128147783 single base substitution C T missense_variant A672T 2014G>A PRAD-US 10 128192655 128192655 single base substitution C T downstream_gene_variant PRAD-US 10 128192655 128192655 single base substitution C T exon_variant PRAD-US 10 128192655 128192655 single base substitution C T missense_variant E11K 31G>A PRAD-US 10 128192655 128192655 single base substitution C T missense_variant E325K 973G>A PRAD-US 10 128192655 128192655 single base substitution C T missense_variant E372K 1114G>A PRAD-US 10 128192655 128192655 single base substitution C T missense_variant E469K 1405G>A READ-US 10 128147749 128147749 single base substitution C T 5_prime_UTR_variant READ-US 10 128147749 128147749 single base substitution C T missense_variant R128H 383G>A READ-US 10 128147749 128147749 single base substitution C T missense_variant R489H 1466G>A READ-US 10 128147749 128147749 single base substitution C T missense_variant R539H 1616G>A READ-US 10 128147749 128147749 single base substitution C T missense_variant R586H 1757G>A READ-US 10 128147749 128147749 single base substitution C T missense_variant R683H 2048G>A READ-US 10 128150020 128150020 single base substitution C T 5_prime_UTR_variant READ-US 10 128150020 128150020 single base substitution C T missense_variant E460K 1378G>A READ-US 10 128150020 128150020 single base substitution C T missense_variant E510K 1528G>A READ-US 10 128150020 128150020 single base substitution C T missense_variant E557K 1669G>A READ-US 10 128150020 128150020 single base substitution C T missense_variant E654K 1960G>A READ-US 10 128150020 128150020 single base substitution C T missense_variant E99K 295G>A READ-US 10 128192605 128192605 insertion of <=200bp - T downstream_gene_variant READ-US 10 128192605 128192605 insertion of <=200bp - T exon_variant READ-US 10 128192605 128192605 insertion of <=200bp - T frameshift_variant K27K? READ-US 10 128192605 128192605 insertion of <=200bp - T frameshift_variant K341K? READ-US 10 128192605 128192605 insertion of <=200bp - T frameshift_variant K388K? READ-US 10 128192605 128192605 insertion of <=200bp - T frameshift_variant K485K? READ-US 10 128193073 128193073 single base substitution G T downstream_gene_variant READ-US 10 128193073 128193073 single base substitution G T exon_variant READ-US 10 128193073 128193073 single base substitution G T synonymous_variant T185T 555C>A READ-US 10 128193073 128193073 single base substitution G T synonymous_variant T232T 696C>A READ-US 10 128193073 128193073 single base substitution G T synonymous_variant T329T 987C>A READ-US 10 128193073 128193073 single base substitution G T upstream_gene_variant RECA-EU 10 128113861 128113861 single base substitution C G 3_prime_UTR_variant RECA-EU 10 128113861 128113861 single base substitution C G downstream_gene_variant RECA-EU 10 128113870 128113870 single base substitution G T 3_prime_UTR_variant RECA-EU 10 128113870 128113870 single base substitution G T downstream_gene_variant RECA-EU 10 128120022 128120022 single base substitution C A intron_variant RECA-EU 10 128137730 128137730 single base substitution C T intron_variant RECA-EU 10 128139293 128139293 single base substitution T A intron_variant RECA-EU 10 128142248 128142248 single base substitution A C intron_variant RECA-EU 10 128156731 128156731 single base substitution G A intron_variant RECA-EU 10 128156731 128156731 single base substitution G A upstream_gene_variant RECA-EU 10 128158196 128158196 single base substitution C T intron_variant RECA-EU 10 128159210 128159210 single base substitution T A intron_variant RECA-EU 10 128162108 128162108 single base substitution G A intron_variant RECA-EU 10 128184220 128184220 single base substitution A T intron_variant RECA-EU 10 128185119 128185119 single base substitution C T intron_variant RECA-EU 10 128196220 128196220 single base substitution G A intron_variant RECA-EU 10 128196220 128196220 single base substitution G A upstream_gene_variant RECA-EU 10 128197293 128197293 single base substitution C A intron_variant RECA-EU 10 128197293 128197293 single base substitution C A upstream_gene_variant RECA-EU 10 128202418 128202418 single base substitution T A missense_variant K135M 404A>T RECA-EU 10 128202418 128202418 single base substitution T A missense_variant K38M 113A>T RECA-EU 10 128202418 128202418 single base substitution T A splice_region_variant RECA-EU 10 128202610 128202610 single base substitution T A intron_variant RECA-EU 10 128203273 128203273 single base substitution A T intron_variant RECA-EU 10 128207226 128207226 single base substitution G A intron_variant RECA-EU 10 128208121 128208121 single base substitution G T intron_variant RECA-EU 10 128209385 128209385 single base substitution C A 5_prime_UTR_variant RECA-EU 10 128209385 128209385 single base substitution C A intron_variant RECA-EU 10 128210547 128210547 single base substitution A G intron_variant RECA-EU 10 128210547 128210547 single base substitution A G upstream_gene_variant RECA-EU 10 128212368 128212368 single base substitution T A intron_variant RECA-EU 10 128212368 128212368 single base substitution T A upstream_gene_variant RECA-EU 10 128216956 128216956 single base substitution G C intron_variant RECA-EU 10 128216956 128216956 single base substitution G C upstream_gene_variant RECA-EU 10 128221330 128221330 single base substitution C T intron_variant RECA-EU 10 128226356 128226356 single base substitution T A intron_variant RECA-EU 10 128235318 128235318 single base substitution G C intron_variant RECA-EU 10 128246780 128246780 single base substitution G A intron_variant RECA-EU 10 128270928 128270928 single base substitution G A intron_variant RECA-EU 10 128279949 128279949 single base substitution G C intron_variant RECA-EU 10 128284225 128284225 single base substitution C G intron_variant RECA-EU 10 128285303 128285303 single base substitution T A intron_variant RECA-EU 10 128300091 128300091 single base substitution T A intron_variant RECA-EU 10 128307376 128307376 single base substitution T A intron_variant RECA-EU 10 128309950 128309950 single base substitution A C intron_variant RECA-EU 10 128324118 128324118 single base substitution T C intron_variant RECA-EU 10 128327274 128327274 single base substitution C T intron_variant RECA-EU 10 128333546 128333546 single base substitution C A intron_variant RECA-EU 10 128337645 128337645 single base substitution C G intron_variant RECA-EU 10 128339146 128339146 single base substitution G A intron_variant RECA-EU 10 128339740 128339740 single base substitution G T intron_variant RECA-EU 10 128341009 128341009 single base substitution T A intron_variant RECA-EU 10 128341561 128341561 single base substitution A G intron_variant RECA-EU 10 128348850 128348850 single base substitution T A intron_variant RECA-EU 10 128351517 128351517 single base substitution C T intron_variant RECA-EU 10 128356516 128356516 single base substitution A T intron_variant SKCA-BR 10 128116235 128116235 single base substitution G A intron_variant SKCA-BR 10 128117041 128117041 single base substitution G C intron_variant SKCA-BR 10 128121618 128121618 single base substitution G A intron_variant SKCA-BR 10 128126307 128126307 single base substitution C T intron_variant SKCA-BR 10 128127489 128127489 single base substitution T C intron_variant SKCA-BR 10 128131202 128131218 deletion of <=200bp GTATATATATATATATA - intron_variant SKCA-BR 10 128131450 128131450 single base substitution G A intron_variant SKCA-BR 10 128132644 128132644 single base substitution G A intron_variant SKCA-BR 10 128139322 128139322 single base substitution G A intron_variant SKCA-BR 10 128139877 128139877 single base substitution C G intron_variant SKCA-BR 10 128141716 128141716 single base substitution G A intron_variant SKCA-BR 10 128142405 128142405 single base substitution G A intron_variant SKCA-BR 10 128144906 128144906 single base substitution A G intron_variant SKCA-BR 10 128148680 128148680 single base substitution C T intron_variant SKCA-BR 10 128151020 128151020 single base substitution A G intron_variant SKCA-BR 10 128151611 128151611 single base substitution T C intron_variant SKCA-BR 10 128152117 128152117 single base substitution A C intron_variant SKCA-BR 10 128152117 128152117 single base substitution A C upstream_gene_variant SKCA-BR 10 128154924 128154924 single base substitution C A intron_variant SKCA-BR 10 128154924 128154924 single base substitution C A upstream_gene_variant SKCA-BR 10 128155789 128155789 single base substitution G A intron_variant SKCA-BR 10 128155789 128155789 single base substitution G A upstream_gene_variant SKCA-BR 10 128162218 128162218 insertion of <=200bp - AT intron_variant SKCA-BR 10 128165936 128165936 single base substitution A C intron_variant SKCA-BR 10 128169116 128169116 single base substitution G A intron_variant SKCA-BR 10 128169257 128169257 single base substitution C A intron_variant SKCA-BR 10 128170341 128170341 single base substitution C T intron_variant SKCA-BR 10 128170353 128170353 single base substitution A C intron_variant SKCA-BR 10 128170824 128170824 single base substitution G A intron_variant SKCA-BR 10 128178627 128178627 insertion of <=200bp - TATAATATATAATATATAATATAATA intron_variant SKCA-BR 10 128180413 128180413 single base substitution T C intron_variant SKCA-BR 10 128181732 128181733 deletion of <=200bp GA - intron_variant SKCA-BR 10 128182948 128182948 single base substitution G A intron_variant SKCA-BR 10 128183308 128183308 single base substitution A G intron_variant SKCA-BR 10 128184015 128184015 single base substitution G T intron_variant SKCA-BR 10 128184306 128184306 single base substitution C T intron_variant SKCA-BR 10 128185154 128185154 single base substitution T C intron_variant SKCA-BR 10 128187918 128187918 single base substitution T C downstream_gene_variant SKCA-BR 10 128187918 128187918 single base substitution T C intron_variant SKCA-BR 10 128193734 128193734 single base substitution G A intron_variant SKCA-BR 10 128193734 128193734 single base substitution G A upstream_gene_variant SKCA-BR 10 128195488 128195488 insertion of <=200bp - AGT intron_variant SKCA-BR 10 128195488 128195488 insertion of <=200bp - AGT upstream_gene_variant SKCA-BR 10 128199496 128199496 single base substitution C T intron_variant SKCA-BR 10 128200933 128200933 single base substitution A G intron_variant SKCA-BR 10 128202435 128202435 single base substitution T C 5_prime_UTR_variant SKCA-BR 10 128202435 128202435 single base substitution T C exon_variant SKCA-BR 10 128202435 128202435 single base substitution T C synonymous_variant A129A 387A>G SKCA-BR 10 128202435 128202435 single base substitution T C synonymous_variant A32A 96A>G SKCA-BR 10 128203909 128203909 single base substitution C T intron_variant SKCA-BR 10 128206477 128206478 deletion of <=200bp CA - intron_variant SKCA-BR 10 128214884 128214884 single base substitution G A intron_variant SKCA-BR 10 128214884 128214884 single base substitution G A upstream_gene_variant SKCA-BR 10 128216138 128216138 single base substitution G A intron_variant SKCA-BR 10 128216138 128216138 single base substitution G A upstream_gene_variant SKCA-BR 10 128220120 128220120 single base substitution C T intron_variant SKCA-BR 10 128221523 128221523 single base substitution A G intron_variant SKCA-BR 10 128228089 128228089 single base substitution G T intron_variant SKCA-BR 10 128230846 128230846 single base substitution T G intron_variant SKCA-BR 10 128231758 128231758 single base substitution T A intron_variant SKCA-BR 10 128231763 128231763 single base substitution T A intron_variant SKCA-BR 10 128231802 128231802 single base substitution T A intron_variant SKCA-BR 10 128233831 128233831 single base substitution T C intron_variant SKCA-BR 10 128234033 128234033 insertion of <=200bp - TA intron_variant SKCA-BR 10 128238297 128238297 single base substitution T C intron_variant SKCA-BR 10 128238453 128238453 single base substitution A C intron_variant SKCA-BR 10 128244289 128244292 deletion of <=200bp AAAT - intron_variant SKCA-BR 10 128244519 128244519 single base substitution A C intron_variant SKCA-BR 10 128245579 128245579 insertion of <=200bp - TA intron_variant SKCA-BR 10 128247068 128247068 single base substitution T C intron_variant SKCA-BR 10 128251429 128251429 single base substitution G A intron_variant SKCA-BR 10 128253437 128253437 single base substitution A T intron_variant SKCA-BR 10 128253443 128253443 single base substitution A T intron_variant SKCA-BR 10 128253449 128253449 single base substitution T A intron_variant SKCA-BR 10 128253499 128253499 single base substitution A T intron_variant SKCA-BR 10 128253500 128253500 single base substitution A T intron_variant SKCA-BR 10 128253815 128253818 deletion of <=200bp TTTA - intron_variant SKCA-BR 10 128253937 128253937 single base substitution T A intron_variant SKCA-BR 10 128253943 128253944 deletion of <=200bp TA - intron_variant SKCA-BR 10 128254885 128254885 single base substitution C T intron_variant SKCA-BR 10 128263297 128263297 single base substitution G A intron_variant SKCA-BR 10 128265312 128265312 single base substitution T C intron_variant SKCA-BR 10 128265322 128265327 deletion of <=200bp TAGATA - intron_variant SKCA-BR 10 128266916 128266916 single base substitution G A intron_variant SKCA-BR 10 128267081 128267081 single base substitution A G intron_variant SKCA-BR 10 128268467 128268467 single base substitution G A intron_variant SKCA-BR 10 128269221 128269221 insertion of <=200bp - CA intron_variant SKCA-BR 10 128269514 128269514 insertion of <=200bp - CCT intron_variant SKCA-BR 10 128269515 128269515 single base substitution A C intron_variant SKCA-BR 10 128270519 128270519 single base substitution T G intron_variant SKCA-BR 10 128272587 128272587 single base substitution G C intron_variant SKCA-BR 10 128276630 128276630 single base substitution G C intron_variant SKCA-BR 10 128287751 128287751 insertion of <=200bp - CT intron_variant SKCA-BR 10 128299461 128299461 single base substitution C T intron_variant SKCA-BR 10 128305728 128305728 single base substitution T G intron_variant SKCA-BR 10 128305740 128305740 single base substitution G T intron_variant SKCA-BR 10 128305747 128305747 single base substitution C T intron_variant SKCA-BR 10 128310373 128310373 single base substitution G A intron_variant SKCA-BR 10 128311138 128311138 single base substitution T C intron_variant SKCA-BR 10 128312083 128312083 single base substitution C T intron_variant SKCA-BR 10 128312409 128312409 single base substitution C A intron_variant SKCA-BR 10 128313790 128313790 single base substitution G A intron_variant SKCA-BR 10 128315552 128315553 deletion of <=200bp CT - intron_variant SKCA-BR 10 128315564 128315564 single base substitution C T intron_variant SKCA-BR 10 128316177 128316177 single base substitution G A intron_variant SKCA-BR 10 128317421 128317421 single base substitution T C intron_variant SKCA-BR 10 128317827 128317827 single base substitution G A intron_variant SKCA-BR 10 128317973 128317973 single base substitution G A intron_variant SKCA-BR 10 128333973 128333977 deletion of <=200bp CCAAA - intron_variant SKCA-BR 10 128335181 128335181 single base substitution G C 5_prime_UTR_variant SKCA-BR 10 128335181 128335181 single base substitution G C missense_variant P89R 266C>G SKCA-BR 10 128337609 128337609 single base substitution C G intron_variant SKCA-BR 10 128337644 128337644 insertion of <=200bp - CG intron_variant SKCA-BR 10 128338646 128338646 single base substitution C A intron_variant SKCA-BR 10 128338826 128338826 single base substitution C T intron_variant SKCA-BR 10 128339465 128339465 single base substitution A C intron_variant SKCA-BR 10 128343065 128343065 single base substitution A G intron_variant SKCA-BR 10 128351281 128351358 deletion of <=200bp TCCTCCATGCATTCTTGCTGAGTTCTCTGGATCCACAATCTGTGTAGACACCCTGGCCTGGCATCATTGGGATGGGTG - intron_variant SKCA-BR 10 128351287 128351287 single base substitution A G intron_variant SKCA-BR 10 128352999 128352999 single base substitution C T intron_variant SKCA-BR 10 128353120 128353120 single base substitution C T intron_variant SKCA-BR 10 128357085 128357085 single base substitution G A intron_variant SKCA-BR 10 128357426 128357426 single base substitution G T intron_variant SKCM-US 10 128114580 128114580 single base substitution G A downstream_gene_variant SKCM-US 10 128114580 128114580 single base substitution G A missense_variant R223C 667C>T SKCM-US 10 128114580 128114580 single base substitution G A missense_variant R584C 1750C>T SKCM-US 10 128114580 128114580 single base substitution G A missense_variant R634C 1900C>T SKCM-US 10 128114580 128114580 single base substitution G A missense_variant R681C 2041C>T SKCM-US 10 128114580 128114580 single base substitution G A missense_variant R778C 2332C>T SKCM-US 10 128114580 128114580 single base substitution G A missense_variant R85C 253C>T SKCM-US 10 128114581 128114581 single base substitution G A downstream_gene_variant SKCM-US 10 128114581 128114581 single base substitution G A synonymous_variant L222L 666C>T SKCM-US 10 128114581 128114581 single base substitution G A synonymous_variant L583L 1749C>T SKCM-US 10 128114581 128114581 single base substitution G A synonymous_variant L633L 1899C>T SKCM-US 10 128114581 128114581 single base substitution G A synonymous_variant L680L 2040C>T SKCM-US 10 128114581 128114581 single base substitution G A synonymous_variant L777L 2331C>T SKCM-US 10 128114581 128114581 single base substitution G A synonymous_variant L84L 252C>T SKCM-US 10 128114656 128114656 single base substitution G A synonymous_variant I197I 591C>T SKCM-US 10 128114656 128114656 single base substitution G A synonymous_variant I558I 1674C>T SKCM-US 10 128114656 128114656 single base substitution G A synonymous_variant I59I 177C>T SKCM-US 10 128114656 128114656 single base substitution G A synonymous_variant I608I 1824C>T SKCM-US 10 128114656 128114656 single base substitution G A synonymous_variant I655I 1965C>T SKCM-US 10 128114656 128114656 single base substitution G A synonymous_variant I752I 2256C>T SKCM-US 10 128147617 128147617 single base substitution G A missense_variant P172L 515C>T SKCM-US 10 128147617 128147617 single base substitution G A missense_variant P34L 101C>T SKCM-US 10 128147617 128147617 single base substitution G A missense_variant P533L 1598C>T SKCM-US 10 128147617 128147617 single base substitution G A missense_variant P583L 1748C>T SKCM-US 10 128147617 128147617 single base substitution G A missense_variant P630L 1889C>T SKCM-US 10 128147617 128147617 single base substitution G A missense_variant P727L 2180C>T SKCM-US 10 128147757 128147757 single base substitution G A 5_prime_UTR_variant SKCM-US 10 128147757 128147757 single base substitution G A synonymous_variant F125F 375C>T SKCM-US 10 128147757 128147757 single base substitution G A synonymous_variant F486F 1458C>T SKCM-US 10 128147757 128147757 single base substitution G A synonymous_variant F536F 1608C>T SKCM-US 10 128147757 128147757 single base substitution G A synonymous_variant F583F 1749C>T SKCM-US 10 128147757 128147757 single base substitution G A synonymous_variant F680F 2040C>T SKCM-US 10 128192632 128192632 single base substitution G A downstream_gene_variant SKCM-US 10 128192632 128192632 single base substitution G A exon_variant SKCM-US 10 128192632 128192632 single base substitution G A synonymous_variant N18N 54C>T SKCM-US 10 128192632 128192632 single base substitution G A synonymous_variant N332N 996C>T SKCM-US 10 128192632 128192632 single base substitution G A synonymous_variant N379N 1137C>T SKCM-US 10 128192632 128192632 single base substitution G A synonymous_variant N476N 1428C>T SKCM-US 10 128193397 128193397 single base substitution G A downstream_gene_variant SKCM-US 10 128193397 128193397 single base substitution G A exon_variant SKCM-US 10 128193397 128193397 single base substitution G A synonymous_variant P124P 372C>T SKCM-US 10 128193397 128193397 single base substitution G A synonymous_variant P221P 663C>T SKCM-US 10 128193397 128193397 single base substitution G A synonymous_variant P77P 231C>T SKCM-US 10 128193397 128193397 single base substitution G A upstream_gene_variant STAD-US 10 128149986 128149986 single base substitution C G 5_prime_UTR_variant STAD-US 10 128149986 128149986 single base substitution C G missense_variant R110T 329G>C STAD-US 10 128149986 128149986 single base substitution C G missense_variant R471T 1412G>C STAD-US 10 128149986 128149986 single base substitution C G missense_variant R521T 1562G>C STAD-US 10 128149986 128149986 single base substitution C G missense_variant R568T 1703G>C STAD-US 10 128149986 128149986 single base substitution C G missense_variant R665T 1994G>C STAD-US 10 128150089 128150089 single base substitution T C 5_prime_UTR_variant STAD-US 10 128150089 128150089 single base substitution T C missense_variant T437A 1309A>G STAD-US 10 128150089 128150089 single base substitution T C missense_variant T487A 1459A>G STAD-US 10 128150089 128150089 single base substitution T C missense_variant T534A 1600A>G STAD-US 10 128150089 128150089 single base substitution T C missense_variant T631A 1891A>G STAD-US 10 128150089 128150089 single base substitution T C missense_variant T76A 226A>G STAD-US 10 128192609 128192609 single base substitution T C downstream_gene_variant STAD-US 10 128192609 128192609 single base substitution T C exon_variant STAD-US 10 128192609 128192609 single base substitution T C missense_variant E26G 77A>G STAD-US 10 128192609 128192609 single base substitution T C missense_variant E340G 1019A>G STAD-US 10 128192609 128192609 single base substitution T C missense_variant E387G 1160A>G STAD-US 10 128192609 128192609 single base substitution T C missense_variant E484G 1451A>G STAD-US 10 128192694 128192694 single base substitution C T downstream_gene_variant STAD-US 10 128192694 128192694 single base substitution C T exon_variant STAD-US 10 128192694 128192694 single base substitution C T missense_variant A312T 934G>A STAD-US 10 128192694 128192694 single base substitution C T missense_variant A359T 1075G>A STAD-US 10 128192694 128192694 single base substitution C T missense_variant A456T 1366G>A STAD-US 10 128192694 128192694 single base substitution C T upstream_gene_variant STAD-US 10 128192844 128192844 single base substitution G A downstream_gene_variant STAD-US 10 128192844 128192844 single base substitution G A exon_variant STAD-US 10 128192844 128192844 single base substitution G A synonymous_variant L262L 784C>T STAD-US 10 128192844 128192844 single base substitution G A synonymous_variant L309L 925C>T STAD-US 10 128192844 128192844 single base substitution G A synonymous_variant L406L 1216C>T STAD-US 10 128192844 128192844 single base substitution G A upstream_gene_variant STAD-US 10 128193320 128193320 deletion of <=200bp G - downstream_gene_variant STAD-US 10 128193320 128193320 deletion of <=200bp G - exon_variant STAD-US 10 128193320 128193320 deletion of <=200bp G - frameshift_variant P103 STAD-US 10 128193320 128193320 deletion of <=200bp G - frameshift_variant P150 STAD-US 10 128193320 128193320 deletion of <=200bp G - frameshift_variant P247 STAD-US 10 128193320 128193320 deletion of <=200bp G - upstream_gene_variant STAD-US 10 128193340 128193340 single base substitution C T downstream_gene_variant STAD-US 10 128193340 128193340 single base substitution C T exon_variant STAD-US 10 128193340 128193340 single base substitution C T synonymous_variant T143T 429G>A STAD-US 10 128193340 128193340 single base substitution C T synonymous_variant T240T 720G>A STAD-US 10 128193340 128193340 single base substitution C T synonymous_variant T96T 288G>A STAD-US 10 128193340 128193340 single base substitution C T upstream_gene_variant STAD-US 10 128193497 128193497 single base substitution C T 3_prime_UTR_variant STAD-US 10 128193497 128193497 single base substitution C T exon_variant STAD-US 10 128193497 128193497 single base substitution C T missense_variant R188H 563G>A STAD-US 10 128193497 128193497 single base substitution C T missense_variant R44H 131G>A STAD-US 10 128193497 128193497 single base substitution C T missense_variant R91H 272G>A STAD-US 10 128193497 128193497 single base substitution C T upstream_gene_variant STAD-US 10 128193584 128193584 single base substitution T G 3_prime_UTR_variant STAD-US 10 128193584 128193584 single base substitution T G exon_variant STAD-US 10 128193584 128193584 single base substitution T G missense_variant K159T 476A>C STAD-US 10 128193584 128193584 single base substitution T G missense_variant K15T 44A>C STAD-US 10 128193584 128193584 single base substitution T G missense_variant K62T 185A>C STAD-US 10 128193584 128193584 single base substitution T G upstream_gene_variant STAD-US 10 128202463 128202463 single base substitution T G 5_prime_UTR_variant STAD-US 10 128202463 128202463 single base substitution T G exon_variant STAD-US 10 128202463 128202463 single base substitution T G missense_variant K120T 359A>C STAD-US 10 128202463 128202463 single base substitution T G missense_variant K23T 68A>C THCA-SA 10 128113799 128113799 single base substitution A C 3_prime_UTR_variant THCA-SA 10 128113799 128113799 single base substitution A C downstream_gene_variant THCA-SA 10 128114325 128114325 single base substitution G A 3_prime_UTR_variant THCA-SA 10 128114325 128114325 single base substitution G A downstream_gene_variant THCA-SA 10 128192584 128192584 single base substitution G A downstream_gene_variant THCA-SA 10 128192584 128192584 single base substitution G A exon_variant THCA-SA 10 128192584 128192584 single base substitution G A synonymous_variant H348H 1044C>T THCA-SA 10 128192584 128192584 single base substitution G A synonymous_variant H34H 102C>T THCA-SA 10 128192584 128192584 single base substitution G A synonymous_variant H395H 1185C>T THCA-SA 10 128192584 128192584 single base substitution G A synonymous_variant H492H 1476C>T THCA-US 10 128193188 128193188 single base substitution G A downstream_gene_variant THCA-US 10 128193188 128193188 single base substitution G A exon_variant THCA-US 10 128193188 128193188 single base substitution G A missense_variant A147V 440C>T THCA-US 10 128193188 128193188 single base substitution G A missense_variant A194V 581C>T THCA-US 10 128193188 128193188 single base substitution G A missense_variant A291V 872C>T THCA-US 10 128193188 128193188 single base substitution G A upstream_gene_variant THCA-US 10 128193581 128193581 single base substitution G A 3_prime_UTR_variant THCA-US 10 128193581 128193581 single base substitution G A exon_variant THCA-US 10 128193581 128193581 single base substitution G A missense_variant S160L 479C>T THCA-US 10 128193581 128193581 single base substitution G A missense_variant S16L 47C>T THCA-US 10 128193581 128193581 single base substitution G A missense_variant S63L 188C>T THCA-US 10 128193581 128193581 single base substitution G A upstream_gene_variant UCEC-US 10 128147629 128147629 single base substitution G A missense_variant T168M 503C>T UCEC-US 10 128147629 128147629 single base substitution G A missense_variant T30M 89C>T UCEC-US 10 128147629 128147629 single base substitution G A missense_variant T529M 1586C>T UCEC-US 10 128147629 128147629 single base substitution G A missense_variant T579M 1736C>T UCEC-US 10 128147629 128147629 single base substitution G A missense_variant T626M 1877C>T UCEC-US 10 128147629 128147629 single base substitution G A missense_variant T723M 2168C>T UCEC-US 10 128149983 128149983 single base substitution G T 5_prime_UTR_variant UCEC-US 10 128149983 128149983 single base substitution G T missense_variant S111Y 332C>A UCEC-US 10 128149983 128149983 single base substitution G T missense_variant S472Y 1415C>A UCEC-US 10 128149983 128149983 single base substitution G T missense_variant S522Y 1565C>A UCEC-US 10 128149983 128149983 single base substitution G T missense_variant S569Y 1706C>A UCEC-US 10 128149983 128149983 single base substitution G T missense_variant S666Y 1997C>A UCEC-US 10 128150020 128150020 single base substitution C T 5_prime_UTR_variant UCEC-US 10 128150020 128150020 single base substitution C T missense_variant E460K 1378G>A UCEC-US 10 128150020 128150020 single base substitution C T missense_variant E510K 1528G>A UCEC-US 10 128150020 128150020 single base substitution C T missense_variant E557K 1669G>A UCEC-US 10 128150020 128150020 single base substitution C T missense_variant E654K 1960G>A UCEC-US 10 128150020 128150020 single base substitution C T missense_variant E99K 295G>A UCEC-US 10 128153290 128153290 single base substitution A T intron_variant UCEC-US 10 128153290 128153290 single base substitution A T synonymous_variant V456V 1368T>A UCEC-US 10 128153290 128153290 single base substitution A T synonymous_variant V503V 1509T>A UCEC-US 10 128153290 128153290 single base substitution A T synonymous_variant V600V 1800T>A UCEC-US 10 128153290 128153290 single base substitution A T upstream_gene_variant UCEC-US 10 128153395 128153395 single base substitution G T intron_variant UCEC-US 10 128153395 128153395 single base substitution G T synonymous_variant P421P 1263C>A UCEC-US 10 128153395 128153395 single base substitution G T synonymous_variant P468P 1404C>A UCEC-US 10 128153395 128153395 single base substitution G T synonymous_variant P565P 1695C>A UCEC-US 10 128153395 128153395 single base substitution G T upstream_gene_variant UCEC-US 10 128192675 128192675 single base substitution G T downstream_gene_variant UCEC-US 10 128192675 128192675 single base substitution G T exon_variant UCEC-US 10 128192675 128192675 single base substitution G T missense_variant S318Y 953C>A UCEC-US 10 128192675 128192675 single base substitution G T missense_variant S365Y 1094C>A UCEC-US 10 128192675 128192675 single base substitution G T missense_variant S462Y 1385C>A UCEC-US 10 128192675 128192675 single base substitution G T missense_variant S4Y 11C>A UCEC-US 10 128192818 128192818 single base substitution T C downstream_gene_variant UCEC-US 10 128192818 128192818 single base substitution T C exon_variant UCEC-US 10 128192818 128192818 single base substitution T C synonymous_variant E270E 810A>G UCEC-US 10 128192818 128192818 single base substitution T C synonymous_variant E317E 951A>G UCEC-US 10 128192818 128192818 single base substitution T C synonymous_variant E414E 1242A>G UCEC-US 10 128192818 128192818 single base substitution T C upstream_gene_variant UCEC-US 10 128193104 128193104 single base substitution T C downstream_gene_variant UCEC-US 10 128193104 128193104 single base substitution T C exon_variant UCEC-US 10 128193104 128193104 single base substitution T C missense_variant Y175C 524A>G UCEC-US 10 128193104 128193104 single base substitution T C missense_variant Y222C 665A>G UCEC-US 10 128193104 128193104 single base substitution T C missense_variant Y319C 956A>G UCEC-US 10 128193104 128193104 single base substitution T C upstream_gene_variant UCEC-US 10 128193111 128193111 single base substitution G A downstream_gene_variant UCEC-US 10 128193111 128193111 single base substitution G A exon_variant UCEC-US 10 128193111 128193111 single base substitution G A missense_variant R173C 517C>T UCEC-US 10 128193111 128193111 single base substitution G A missense_variant R220C 658C>T UCEC-US 10 128193111 128193111 single base substitution G A missense_variant R317C 949C>T UCEC-US 10 128193111 128193111 single base substitution G A upstream_gene_variant UCEC-US 10 128193241 128193241 single base substitution C T downstream_gene_variant UCEC-US 10 128193241 128193241 single base substitution C T exon_variant UCEC-US 10 128193241 128193241 single base substitution C T synonymous_variant A129A 387G>A UCEC-US 10 128193241 128193241 single base substitution C T synonymous_variant A176A 528G>A UCEC-US 10 128193241 128193241 single base substitution C T synonymous_variant A273A 819G>A UCEC-US 10 128193241 128193241 single base substitution C T upstream_gene_variant UCEC-US 10 128193440 128193440 single base substitution G A downstream_gene_variant UCEC-US 10 128193440 128193440 single base substitution G A exon_variant UCEC-US 10 128193440 128193440 single base substitution G A missense_variant P110L 329C>T UCEC-US 10 128193440 128193440 single base substitution G A missense_variant P207L 620C>T UCEC-US 10 128193440 128193440 single base substitution G A missense_variant P63L 188C>T UCEC-US 10 128193440 128193440 single base substitution G A upstream_gene_variant UCEC-US 10 128193535 128193535 single base substitution C A 3_prime_UTR_variant UCEC-US 10 128193535 128193535 single base substitution C A exon_variant UCEC-US 10 128193535 128193535 single base substitution C A missense_variant Q175H 525G>T UCEC-US 10 128193535 128193535 single base substitution C A missense_variant Q31H 93G>T UCEC-US 10 128193535 128193535 single base substitution C A missense_variant Q78H 234G>T UCEC-US 10 128193535 128193535 single base substitution C A upstream_gene_variant UCEC-US 10 128193576 128193576 single base substitution C A 3_prime_UTR_variant UCEC-US 10 128193576 128193576 single base substitution C A exon_variant UCEC-US 10 128193576 128193576 single base substitution C A stop_gained E162* 484G>T UCEC-US 10 128193576 128193576 single base substitution C A stop_gained E18* 52G>T UCEC-US 10 128193576 128193576 single base substitution C A stop_gained E65* 193G>T UCEC-US 10 128193576 128193576 single base substitution C A upstream_gene_variant UCEC-US 10 128202508 128202508 single base substitution C A missense_variant G105V 314G>T UCEC-US 10 128202508 128202508 single base substitution C A missense_variant G8V 23G>T UCEC-US 10 128202508 128202508 single base substitution C A splice_region_variant UCEC-US 10 128209882 128209882 single base substitution T G 5_prime_UTR_variant UCEC-US 10 128209882 128209882 single base substitution T G exon_variant UCEC-US 10 128209882 128209882 single base substitution T G intron_variant UCEC-US 10 128209882 128209882 single base substitution T G missense_variant K3T 8A>C UCEC-US 10 128209882 128209882 single base substitution T G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-8284-01 COSM4012550 c.1703G>C p.R568T Substitution - Missense 10:126461417-126461417 - TCGA-AA-3715-01 COSM268776 c.299T>C p.F100S Substitution - Missense 10:126504901-126504901 - SNUH_G33_S1 COSM3675678 c.1674C>G p.D558E Substitution - Missense 10:126461446-126461446 - TCGA-EB-A431-01 COSM3435554 c.372C>T p.P124P Substitution - coding silent 10:126504828-126504828 - T263 COSM4666560 c.1243+1G>T p.? Unknown 10:126503956-126503956 - TCGA-39-5035-01 COSM684072 c.1548C>T p.C516C Substitution - coding silent 10:126461572-126461572 - 12T COSM108874 c.1633G>A p.A545T Substitution - Missense 10:126461487-126461487 - CHC789T COSM4953279 c.934A>G p.R312G Substitution - Missense 10:126504266-126504266 - Pat_46_B COSM5836493 c.848C>G p.P283R Substitution - Missense 10:126504352-126504352 - 2492730 COSM5729112 c.451G>A p.A151T Substitution - Missense 10:126504749-126504749 - TCGA-AZ-4315-01 COSM1346687 c.71delA p.N24fs*25 Deletion - Frameshift 10:126513891-126513891 - EGC3 COSM1346685 c.395delG p.G132fs*76 Deletion - Frameshift 10:126504805-126504805 - OCC06PT COSM88509 c.616C>T p.R206W Substitution - Missense 10:126504584-126504584 - LUAD-D01603 COSM337206 c.372C>A p.P124P Substitution - coding silent 10:126504828-126504828 - TCGA-AA-A010-01 COSM279241 c.1947T>C p.H649H Substitution - coding silent 10:126429801-126429801 - CSCC-19-T COSM4450559 c.675_676delCC p.H226fs*50 Deletion - Frameshift 10:126504524-126504525 - LUAD-S01302 COSM395407 c.455G>T p.R152L Substitution - Missense 10:126504745-126504745 - C0058T COSM4165421 c.113A>T p.K38M Substitution - Missense 10:126513849-126513849 - SC_9090 COSM5567915 c.809C>A p.S270Y Substitution - Missense 10:126504391-126504391 - PT23_2 COSM538035 c.617G>A p.R206Q Substitution - Missense 10:126504583-126504583 - SNUH_G10_S1 COSM3997823 c.96A>G p.A32A Substitution - coding silent 10:126513866-126513866 - 8070208 COSM4055041 c.437G>A p.R146H Substitution - Missense 10:126504763-126504763 - LUAD-NYU252 COSM371559 c.381G>T p.E127D Substitution - Missense 10:126504819-126504819 - CHC892T COSM4961446 c.1690C>T p.Q564* Substitution - Nonsense 10:126461430-126461430 - 8067211 COSM3768985 c.1888C>A p.P630T Substitution - Missense 10:126459049-126459049 - PT17_1 COSM5899006 c.1349C>T p.P450L Substitution - Missense 10:126464881-126464881 - LUAD-B00416 COSM330738 c.1809C>A p.A603A Substitution - coding silent 10:126459128-126459128 - TCGA-ET-A3DW-01 COSM3367953 c.188C>T p.S63L Substitution - Missense 10:126505012-126505012 - BD121T COSM5515392 c.1150A>C p.R384R Substitution - coding silent 10:126504050-126504050 - TCGA-BR-4256-01 COSM4012564 c.185A>C p.K62T Substitution - Missense 10:126505015-126505015 - SA227 COSM212631 c.826G>C p.E276Q Substitution - Missense 10:126504374-126504374 - Pat_26_B COSM5836499 c.376G>T p.E126* Substitution - Nonsense 10:126504824-126504824 - SC_9056 COSM5520189 c.2094G>A p.A698A Substitution - coding silent 10:126425870-126425870 - TCGA-A6-5665-01 COSM1346685 c.395delG p.G132fs*76 Deletion - Frameshift 10:126504805-126504805 - BD114T COSM5503675 c.1770G>A p.R590R Substitution - coding silent 10:126459167-126459167 - ASHPC_0034_Pa_P COSM1346678 c.1736G>A p.R579H Substitution - Missense 10:126459201-126459201 - pfg181T COSM4761182 c.1642G>A p.D548N Substitution - Missense 10:126461478-126461478 - TCGA-BQ-5892-01 COSM2022083 c.693G>C p.E231D Substitution - Missense 10:126504507-126504507 - TCGA-B5-A11E-01 COSM915959 c.665A>G p.Y222C Substitution - Missense 10:126504535-126504535 - TCGA-MI-A75I-01 COSM4930340 c.1925G>A p.C642Y Substitution - Missense 10:126429823-126429823 - TCGA-CM-4746-01 COSM1346684 c.436C>T p.R146C Substitution - Missense 10:126504764-126504764 - TCGA-CK-5916-01 COSM3686578 c.438C>T p.R146R Substitution - coding silent 10:126504762-126504762 - 33T COSM3709779 c.1760C>T p.S587L Substitution - Missense 10:126459177-126459177 - I2L-P7-Tumor-Organoid COSM5360256 c.1721A>G p.E574G Substitution - Missense 10:126459216-126459216 - ASHPC_0031_Pa_P COSM915961 c.528G>A p.A176A Substitution - coding silent 10:126504672-126504672 - TCGA-F5-6814-01 COSM5825617 c.1163_1164insA p.D389fs*58 Insertion - Frameshift 10:126504036-126504037 - 10748 COSM3727948 c.2086A>G p.R696G Substitution - Missense 10:126425878-126425878 - SS6003320 COSM4055041 c.437G>A p.R146H Substitution - Missense 10:126504763-126504763 - P55 COSM328717 c.1840A>T p.S614C Substitution - Missense 10:126459097-126459097 - TCGA-AN-A046-01 COSM3806705 c.1026T>G p.S342R Substitution - Missense 10:126504174-126504174 - TCGA-DK-A3X1-01 COSM3790592 c.247C>A p.H83N Substitution - Missense 10:126504953-126504953 - TCGA-AA-A010-01 COSM279242 c.735G>A p.P245P Substitution - coding silent 10:126504465-126504465 - 117T COSM1725501 c.1812G>T p.Q604H Substitution - Missense 10:126459125-126459125 - T2269 COSM4666566 c.1136A>G p.N379S Substitution - Missense 10:126504064-126504064 - T2269 COSM4666563 c.1192G>A p.D398N Substitution - Missense 10:126504008-126504008 - TCGA-DY-A1DC-01 COSM1560890 c.696C>A p.T232T Substitution - coding silent 10:126504504-126504504 - TCGA-EL-A3T3-01 COSM3367951 c.581C>T p.A194V Substitution - Missense 10:126504619-126504619 - T3498 COSM4666575 c.550G>A p.A184T Substitution - Missense 10:126504650-126504650 - DN14066 COSM5962894 c.1796A>G p.Q599R Substitution - Missense 10:126459141-126459141 - TCGA-A4-A5Y0-01 COSM3985488 c.1771C>T p.L591L Substitution - coding silent 10:126459166-126459166 - Pat_26_A COSM5836499 c.376G>T p.E126* Substitution - Nonsense 10:126504824-126504824 - T2987 COSM1346684 c.436C>T p.R146C Substitution - Missense 10:126504764-126504764 - PT36 COSM5915912 c.1307C>T p.S436F Substitution - Missense 10:126464923-126464923 - LUAD-B01811 COSM333743 c.1680T>G p.S560S Substitution - coding silent 10:126461440-126461440 - ESO-0590 COSM1246370 c.1893G>A p.L631L Substitution - coding silent 10:126459044-126459044 - TCGA-D1-A16Y-01 COSM915955 c.1509T>A p.V503V Substitution - coding silent 10:126464721-126464721 - TCGA-BT-A3PH-01 COSM1297055 c.835C>G p.Q279E Substitution - Missense 10:126504365-126504365 - LUAD-S01356 COSM404422 c.188C>A p.S63* Substitution - Nonsense 10:126505012-126505012 - CHC1531T COSM279242 c.735G>A p.P245P Substitution - coding silent 10:126504465-126504465 - LUAD-S01357 COSM386325 c.542C>A p.A181D Substitution - Missense 10:126504658-126504658 - 2492702 COSM5716066 c.40C>T p.H14Y Substitution - Missense 10:126513922-126513922 - TCGA-12-0707 COSM2154380 c.1538A>C p.D513A Substitution - Missense 10:126461582-126461582 - sysucc-311T COSM1346676 c.1952G>A p.R651Q Substitution - Missense 10:126429796-126429796 - TCGA-AP-A051-01 COSM915961 c.528G>A p.A176A Substitution - coding silent 10:126504672-126504672 - HCC115T COSM1246371 c.1719A>C p.Q573H Substitution - Missense 10:126461401-126461401 - LP6005500-DNA_A01 COSM684071 c.1310C>A p.A437D Substitution - Missense 10:126464920-126464920 - CSCC-49-T COSM4533948 c.2030G>C p.S677T Substitution - Missense 10:126426022-126426022 - TCGA-BR-8372-01 COSM3806708 c.272G>A p.R91H Substitution - Missense 10:126504928-126504928 - PCSI_0090_Pa_P COSM3375419 c.1812G>A p.Q604Q Substitution - coding silent 10:126459125-126459125 - TCGA-AP-A056-01 COSM915953 c.1706C>A p.S569Y Substitution - Missense 10:126461414-126461414 - ESO-0292 COSM1240910 c.449delC p.P150fs*58 Deletion - Frameshift 10:126504751-126504751 - PR-3127 COSM243275 c.658C>G p.R220G Substitution - Missense 10:126504542-126504542 - ATL065 COSM3382734 c.1921C>T p.R641W Substitution - Missense 10:126429827-126429827 - P04-2740 COSM243274 c.2093C>T p.A698V Substitution - Missense 10:126425871-126425871 - LUAD-LIP77 COSM342075 c.297A>G p.A99A Substitution - coding silent 10:126504903-126504903 - TCGA-AM-5820-01 COSM3686577 c.1675T>C p.C559R Substitution - Missense 10:126461445-126461445 - SC_9090 COSM5567911 c.808T>C p.S270P Substitution - Missense 10:126504392-126504392 - SJHGG034_D COSM4970278 c.1165G>C p.D389H Substitution - Missense 10:126504035-126504035 - TCGA-HU-A4GQ-01 COSM203546 c.1075G>A p.A359T Substitution - Missense 10:126504125-126504125 - TCGA-BC-A10U-01 COSM4942346 c.412G>T p.A138S Substitution - Missense 10:126504788-126504788 - TCGA-13-0924-01 COSM133557 c.1992_1993GA>TT p.K664_K665>N* Complex - compound substitution 10:126426059-126426060 - LUAD_E00623 COSM353676 c.335C>T p.P112L Substitution - Missense 10:126504865-126504865 - TCGA-46-3769-01 COSM684073 c.1637C>A p.P546H Substitution - Missense 10:126461483-126461483 - TCGA-BL-A13I-01 COSM415116 c.594C>T p.F198F Substitution - coding silent 10:126504606-126504606 - TCGA-12-0707 COSM2154655 c.1545A>G p.T515T Substitution - coding silent 10:126461575-126461575 - S0029 COSM5881863 c.1729G>A p.E577K Substitution - Missense 10:126459208-126459208 - TCGA-CG-5721-01 COSM203546 c.1075G>A p.A359T Substitution - Missense 10:126504125-126504125 - 8066081 COSM3382734 c.1921C>T p.R641W Substitution - Missense 10:126429827-126429827 - CSCC-44-T COSM4572721 c.840T>A p.I280I Substitution - coding silent 10:126504360-126504360 - CHC891T COSM2154654 c.1544C>T p.T515I Substitution - Missense 10:126461576-126461576 - 2492701 COSM5716066 c.40C>T p.H14Y Substitution - Missense 10:126513922-126513922 - TCGA-EE-A2MR-06 COSM3435552 c.1137C>T p.N379N Substitution - coding silent 10:126504063-126504063 - 587278 COSM1185164 c.1855C>T p.R619C Substitution - Missense 10:126459082-126459082 - D-05 COSM4766478 c.428C>T p.T143M Substitution - Missense 10:126504772-126504772 - TCGA-CG-5719-01 COSM538033 c.429G>A p.T143T Substitution - coding silent 10:126504771-126504771 - TCGA-29-2432-01 COSM1321469 c.1890T>G p.P630P Substitution - coding silent 10:126459047-126459047 - 8057513 COSM3382734 c.1921C>T p.R641W Substitution - Missense 10:126429827-126429827 - TCGA-AG-3883-01 COSM127459 c.1980G>A p.P660P Substitution - coding silent 10:126426072-126426072 - T3064 COSM4666572 c.749C>T p.S250F Substitution - Missense 10:126504451-126504451 - T3080 COSM2022093 c.302C>T p.A101V Substitution - Missense 10:126504898-126504898 - TCGA-AX-A05Z-01 COSM915966 c.8A>C p.K3T Substitution - Missense 10:126521313-126521313 - TCGA-AA-A029-01 COSM300573 c.1706C>G p.S569C Substitution - Missense 10:126461414-126461414 - PT37 COSM5919814 c.1534+5G>A p.? Unknown 10:126464691-126464691 - 3N33-VS-3T33 COSM4980858 c.219G>A p.P73P Substitution - coding silent 10:126504981-126504981 - 48 COSM3768987 c.1768C>T p.R590W Substitution - Missense 10:126459169-126459169 - SM-4B295 COSM5032466 c.428C>G p.T143R Substitution - Missense 10:126504772-126504772 - TCGA-CA-6718-01 COSM1346680 c.1537G>T p.D513Y Substitution - Missense 10:126461583-126461583 - PT37 COSM4666572 c.749C>T p.S250F Substitution - Missense 10:126504451-126504451 - TCGA-D1-A16X-01 COSM915957 c.1094C>A p.S365Y Substitution - Missense 10:126504106-126504106 - TCGA-AX-A0J0-01 COSM915964 c.193G>T p.E65* Substitution - Nonsense 10:126505007-126505007 - 371-01-6TD COSM5416491 c.1534+10G>A p.? Unknown 10:126464686-126464686 - CHC892T COSM4795256 c.1435C>T p.P479S Substitution - Missense 10:126464795-126464795 - GC_353T-GC_353N COSM4773479 c.1174A>G p.T392A Substitution - Missense 10:126504026-126504026 - WT010 COSM4055041 c.437G>A p.R146H Substitution - Missense 10:126504763-126504763 - TCGA-EE-A2MS-06 COSM3435551 c.1749C>T p.F583F Substitution - coding silent 10:126459188-126459188 - ESO-191 COSM1246371 c.1719A>C p.Q573H Substitution - Missense 10:126461401-126461401 - TCGA-EI-6882-01 COSM3414808 c.1757G>A p.R586H Substitution - Missense 10:126459180-126459180 - TCGA-B6-A402-01 COSM4391690 c.587C>T p.T196I Substitution - Missense 10:126504613-126504613 - TCGA-66-2771-01 COSM684070 c.1252A>G p.K418E Substitution - Missense 10:126464978-126464978 - ESCC_BICR_039T COSM5429513 c.455G>A p.R152H Substitution - Missense 10:126504745-126504745 - LUAD-RT-S01703 COSM379558 c.707C>T p.P236L Substitution - Missense 10:126504493-126504493 - CHC433T COSM3666717 c.125C>T p.A42V Substitution - Missense 10:126505075-126505075 - TCGA-CK-5914-01 COSM1346682 c.758A>T p.H253L Substitution - Missense 10:126504442-126504442 - CHC892T COSM4961446 c.1690C>T p.Q564* Substitution - Nonsense 10:126461430-126461430 - PTC-14C COSM4144465 c.1089T>A p.S363R Substitution - Missense 10:126504111-126504111 - TCGA-CK-5915-01 COSM1346678 c.1736G>A p.R579H Substitution - Missense 10:126459201-126459201 - HCC2998 COSM2022092 c.390T>C p.C130C Substitution - coding silent 10:126504810-126504810 - Au4 COSM5602943 c.357G>A p.E119E Substitution - coding silent 10:126504843-126504843 - T3724 COSM4666558 c.1541A>G p.Y514C Substitution - Missense 10:126461579-126461579 - CHC891T COSM2154654 c.1544C>T p.T515I Substitution - Missense 10:126461576-126461576 - TCGA-AP-A0LM-01 COSM915956 c.1404C>A p.P468P Substitution - coding silent 10:126464826-126464826 - TCGA-AM-5821-01 COSM3751600 c.784G>A p.D262N Substitution - Missense 10:126504416-126504416 - YUZINO COSM1703236 c.601A>G p.N201D Substitution - Missense 10:126504599-126504599 - TCGA-CM-4746-01 COSM1240910 c.449delC p.P150fs*58 Deletion - Frameshift 10:126504751-126504751 - ATL018 COSM5703495 c.711C>A p.D237E Substitution - Missense 10:126504489-126504489 - 587332 COSM1185165 c.250G>A p.A84T Substitution - Missense 10:126504950-126504950 - TCGA-22-4613-01 COSM684077 c.1991A>T p.K664M Substitution - Missense 10:126426061-126426061 - CSCC-11-T COSM4562152 c.913G>A p.G305R Substitution - Missense 10:126504287-126504287 - CSCC-11-T COSM4469535 c.1603C>T p.P535S Substitution - Missense 10:126461517-126461517 - CHC1739T COSM4805375 c.457G>A p.A153T Substitution - Missense 10:126504743-126504743 - TCGA-AA-A010-01 COSM279240 c.2007A>C p.Q669H Substitution - Missense 10:126426045-126426045 - T2269 COSM4666569 c.1046C>T p.S349L Substitution - Missense 10:126504154-126504154 - 35M COSM2022077 c.894C>T p.S298S Substitution - coding silent 10:126504306-126504306 - TCGA-AG-A002-01 COSM259694 c.1527C>T p.F509F Substitution - coding silent 10:126464703-126464703 - HCC2998 COSM1675651 c.173T>G p.I58S Substitution - Missense 10:126505027-126505027 - TCGA-AA-3663-01 COSM1346679 c.1731A>C p.E577D Substitution - Missense 10:126459206-126459206 - STC252 COSM5049999 c.486T>C p.S162S Substitution - coding silent 10:126504714-126504714 - TCGA-66-2763-01 COSM684076 c.1893G>C p.L631L Substitution - coding silent 10:126459044-126459044 - TCGA-CG-5728-01 COSM4012552 c.1600A>G p.T534A Substitution - Missense 10:126461520-126461520 - PCSI_0090_Pa_X COSM3375419 c.1812G>A p.Q604Q Substitution - coding silent 10:126459125-126459125 - TCGA-AA-A010-01 COSM203548 c.456C>T p.R152R Substitution - coding silent 10:126504744-126504744 - PACA73 COSM1158325 c.1591G>A p.D531N Substitution - Missense 10:126461529-126461529 - TCGA-18-3409-01 COSM684069 c.530C>T p.P177L Substitution - Missense 10:126504670-126504670 - 98711 COSM318982 c.1897+2T>C p.? Unknown 10:126459038-126459038 - TCGA-D1-A17A-01 COSM915962 c.329C>T p.P110L Substitution - Missense 10:126504871-126504871 - TCGA-AP-A0LM-01 COSM915952 c.1877C>T p.T626M Substitution - Missense 10:126459060-126459060 - ZZUFHECRKL-G060T COSM3997823 c.96A>G p.A32A Substitution - coding silent 10:126513866-126513866 - ME020T COSM225663 c.1594C>T p.P532S Substitution - Missense 10:126461526-126461526 - CSCC-6-T COSM4461840 c.1222C>G p.P408A Substitution - Missense 10:126503978-126503978 - Au4 COSM5602940 c.248A>C p.H83P Substitution - Missense 10:126504952-126504952 - PD9544a COSM5800578 c.583T>C p.C195R Substitution - Missense 10:126504617-126504617 - LUAD-CHTN-MAD06-00668 COSM358465 c.315C>A p.G105G Substitution - coding silent 10:126504885-126504885 - ESCC_170 COSM5649108 c.578T>C p.F193S Substitution - Missense 10:126504622-126504622 - TCGA-12-0707 COSM2154673 c.1541A>C p.Y514S Substitution - Missense 10:126461579-126461579 - TCGA-46-3769-01 COSM684075 c.1638C>A p.P546P Substitution - coding silent 10:126461482-126461482 - CSCC-38-T COSM4526092 c.1372G>A p.D458N Substitution - Missense 10:126464858-126464858 - HCC2998 COSM1675651 c.173T>G p.I58S Substitution - Missense 10:126505027-126505027 - LUAD-74TBW COSM354968 c.207C>T p.S69S Substitution - coding silent 10:126504993-126504993 - Pat_66_A COSM5836496 c.628C>T p.P210S Substitution - Missense 10:126504572-126504572 - TCGA-18-3409-01 COSM684078 c.2087G>A p.R696K Substitution - Missense 10:126425877-126425877 - 8066067 COSM3382734 c.1921C>T p.R641W Substitution - Missense 10:126429827-126429827 - TCGA-66-2756-01 COSM684071 c.1310C>A p.A437D Substitution - Missense 10:126464920-126464920 - BD35T COSM5520189 c.2094G>A p.A698A Substitution - coding silent 10:126425870-126425870 - 8066443 COSM3768989 c.948C>T p.S316S Substitution - coding silent 10:126504252-126504252 - T3091 COSM4666554 c.2015G>A p.R672K Substitution - Missense 10:126426037-126426037 - T3724 COSM915960 c.658C>T p.R220C Substitution - Missense 10:126504542-126504542 - C84 COSM4619939 c.912T>C p.D304D Substitution - coding silent 10:126504288-126504288 - 27 COSM1716059 c.859A>T p.R287* Substitution - Nonsense 10:126504341-126504341 - PT33 COSM4666572 c.749C>T p.S250F Substitution - Missense 10:126504451-126504451 - ATL015 COSM5703493 c.1609C>A p.P537T Substitution - Missense 10:126461511-126461511 - TCGA-21-5787-01 COSM684068 c.379G>T p.E127* Substitution - Nonsense 10:126504821-126504821 - TCGA-BR-8059-01 COSM4012559 c.925C>T p.L309L Substitution - coding silent 10:126504275-126504275 - PD4938a COSM159454 c.1428C>T p.F476F Substitution - coding silent 10:126464802-126464802 - 53 COSM915962 c.329C>T p.P110L Substitution - Missense 10:126504871-126504871 - TCGA-EE-A3AE-06 COSM3435550 c.1889C>T p.P630L Substitution - Missense 10:126459048-126459048 - TCGA-GF-A6C9-06 COSM4903211 c.2040C>T p.L680L Substitution - coding silent 10:126426012-126426012 - CSCC-47-T COSM4562161 c.914G>A p.G305E Substitution - Missense 10:126504286-126504286 - TCGA-HC-7750-01 COSM1470291 c.1723G>A p.A575T Substitution - Missense 10:126459214-126459214 - TCGA-12-0707 COSM2154653 c.1543A>G p.T515A Substitution - Missense 10:126461577-126461577 - CHC1531T COSM4804847 c.1695G>A p.T565T Substitution - coding silent 10:126461425-126461425 - TCGA-60-2724-01 COSM538041 c.1860C>A p.T620T Substitution - coding silent 10:126459077-126459077 - PDA_004 COSM4998048 c.401G>A p.R134H Substitution - Missense 10:126504799-126504799 - CSCC-44-T COSM4455803 c.904A>C p.T302P Substitution - Missense 10:126504296-126504296 - CSCC-19-T COSM4555812 c.669G>A p.W223* Substitution - Nonsense 10:126504531-126504531 - 90482 COSM329183 c.2078T>A p.L693H Substitution - Missense 10:126425886-126425886 - T2197 COSM4666556 c.1694C>T p.T565M Substitution - Missense 10:126461426-126461426 - 2492729 COSM5727617 c.1244-1G>A p.? Unknown 10:126464987-126464987 - TCGA-EB-A41A-01 COSM3435549 c.1965C>T p.I655I Substitution - coding silent 10:126426087-126426087 - TCGA-AA-3510-01 COSM1346677 c.1754C>A p.S585Y Substitution - Missense 10:126459183-126459183 - HN_63080 COSM127460 c.396C>T p.G132G Substitution - coding silent 10:126504804-126504804 - TCGA-CK-5914-01 COSM1346676 c.1952G>A p.R651Q Substitution - Missense 10:126429796-126429796 - DLD1 COSM4621802 c.737T>G p.L246R Substitution - Missense 10:126504463-126504463 - TCGA-DK-A1A7-01 COSM415117 c.1156G>A p.G386R Substitution - Missense 10:126504044-126504044 - TCGA-AZ-6601-01 COSM1346686 c.369G>A p.P123P Substitution - coding silent 10:126504831-126504831 - TCGA-D1-A17Q-01 COSM915960 c.658C>T p.R220C Substitution - Missense 10:126504542-126504542 - PACA-73-T COSM1158325 c.1591G>A p.D531N Substitution - Missense 10:126461529-126461529 - S02139 COSM5673982 c.123G>C p.L41L Substitution - coding silent 10:126505077-126505077 - TCGA-F5-6814-01 COSM915954 c.1669G>A p.E557K Substitution - Missense 10:126461451-126461451 - Pat_46_A COSM5836493 c.848C>G p.P283R Substitution - Missense 10:126504352-126504352 - LP6007594 COSM4966123 c.1922G>A p.R641Q Substitution - Missense 10:126429826-126429826 - CN-AML-CR-15-Dx COSM5424929 c.1943T>C p.M648T Substitution - Missense 10:126429805-126429805 - TCGA-AX-A0J0-01 COSM915953 c.1706C>A p.S569Y Substitution - Missense 10:126461414-126461414 - CHC1531T COSM4804847 c.1695G>A p.T565T Substitution - coding silent 10:126461425-126461425 - T3225 COSM538033 c.429G>A p.T143T Substitution - coding silent 10:126504771-126504771 - 2492703 COSM5716066 c.40C>T p.H14Y Substitution - Missense 10:126513922-126513922 - TCGA-HU-A4GX-01 COSM4012554 c.1160A>G p.E387G Substitution - Missense 10:126504040-126504040 - HCT15 COSM2022070 c.1184A>G p.H395R Substitution - Missense 10:126504016-126504016 - SNUH_G21_S1 COSM3675678 c.1674C>G p.D558E Substitution - Missense 10:126461446-126461446 - 418 COSM4431791 c.206C>G p.S69C Substitution - Missense 10:126504994-126504994 - CHC1531T COSM279242 c.735G>A p.P245P Substitution - coding silent 10:126504465-126504465 - CLL130 COSM1289329 c.481G>T p.D161Y Substitution - Missense 10:126504719-126504719 - TCGA-BR-8589-01 COSM4012567 c.68A>C p.K23T Substitution - Missense 10:126513894-126513894 - SS6003149 COSM4055039 c.1460T>G p.L487R Substitution - Missense 10:126464770-126464770 - CHC789T COSM4953279 c.934A>G p.R312G Substitution - Missense 10:126504266-126504266 - CHC1739T COSM4805375 c.457G>A p.A153T Substitution - Missense 10:126504743-126504743 - TCGA-HC-8259-01 COSM4392721 c.1114G>A p.E372K Substitution - Missense 10:126504086-126504086 - ESCC_165 COSM5648438 c.333A>C p.A111A Substitution - coding silent 10:126504867-126504867 - 255 COSM3732180 c.1406C>T p.T469I Substitution - Missense 10:126464824-126464824 - TCGA-A6-6653-01 COSM1346683 c.706C>T p.P236S Substitution - Missense 10:126504494-126504494 - HX21T COSM3665575 c.2027A>G p.Q676R Substitution - Missense 10:126426025-126426025 - GC8_T COSM147085 c.816C>G p.S272S Substitution - coding silent 10:126504384-126504384 - T3724 COSM4382258 c.229G>A p.A77T Substitution - Missense 10:126504971-126504971 - TCGA-BG-A0MQ-01 COSM915958 c.951A>G p.E317E Substitution - coding silent 10:126504249-126504249 - TCGA-ER-A198-06 COSM3435548 c.2041C>T p.R681C Substitution - Missense 10:126426011-126426011 - TCGA-EK-A2PG-01 COSM4819254 c.376G>C p.E126Q Substitution - Missense 10:126504824-126504824 - TCGA-BS-A0UF-01 COSM915954 c.1669G>A p.E557K Substitution - Missense 10:126461451-126461451 - LUAD-NYU201 COSM371259 c.1613C>G p.S538C Substitution - Missense 10:126461507-126461507 - CHC892T COSM4795256 c.1435C>T p.P479S Substitution - Missense 10:126464795-126464795 - CSCC-47-T COSM4534433 c.2088G>A p.R696R Substitution - coding silent 10:126425876-126425876 - CHC433T COSM3666717 c.125C>T p.A42V Substitution - Missense 10:126505075-126505075 - Gp5D COSM1240910 c.449delC p.P150fs*58 Deletion - Frameshift 10:126504751-126504751 - 2492700 COSM5716066 c.40C>T p.H14Y Substitution - Missense 10:126513922-126513922 - TCGA-12-0707 COSM2154674 c.1542C>T p.Y514Y Substitution - coding silent 10:126461578-126461578 - RK107_C01 COSM1627369 c.2045C>A p.A682D Substitution - Missense 10:126426007-126426007 - 8057501 COSM3382734 c.1921C>T p.R641W Substitution - Missense 10:126429827-126429827 - CSCC-56-T COSM4562152 c.913G>A p.G305R Substitution - Missense 10:126504287-126504287 - TCGA-AP-A059-01 COSM915963 c.234G>T p.Q78H Substitution - Missense 10:126504966-126504966 - C547 COSM3806708 c.272G>A p.R91H Substitution - Missense 10:126504928-126504928 - T613 COSM4666578 c.446C>T p.P149L Substitution - Missense 10:126504754-126504754 - 3N25-VS-3T25 COSM4979906 c.1878G>A p.T626T Substitution - coding silent 10:126459059-126459059 - TCGA-12-0707 COSM2154654 c.1544C>T p.T515I Substitution - Missense 10:126461576-126461576 - 262LT COSM4382258 c.229G>A p.A77T Substitution - Missense 10:126504971-126504971 - PT49 COSM5935556 c.772C>T p.Q258* Substitution - Nonsense 10:126504428-126504428 - D-07 COSM4766560 c.2065T>G p.L689V Substitution - Missense 10:126425899-126425899 - PT48 COSM5932564 c.1651G>A p.G551R Substitution - Missense 10:126461469-126461469 - TCGA-BS-A0UF-01 COSM915965 c.23G>T p.G8V Substitution - Missense 10:126513939-126513939 - HN_62506 COSM127459 c.1980G>A p.P660P Substitution - coding silent 10:126426072-126426072 - 587284 COSM1185165 c.250G>A p.A84T Substitution - Missense 10:126504950-126504950 - TCGA-BH-A18G-01 COSM3806708 c.272G>A p.R91H Substitution - Missense 10:126504928-126504928 - HCC2998 COSM2022075 c.1086G>T p.W362C Substitution - Missense 10:126504114-126504114 - OSCC-GB_00330111 COSM3709779 c.1760C>T p.S587L Substitution - Missense 10:126459177-126459177 - 8057600 COSM3768987 c.1768C>T p.R590W Substitution - Missense 10:126459169-126459169 - KYSE-140 COSM2022052 c.1756C>T p.R586C Substitution - Missense 10:126459181-126459181 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.587659;Hs.587660;Hs.587663 10q26.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - 3-UTRDeletion . c.2097+127delT 10 128114309 STAD A G SpliceDonorSNV . c.1897+2T>C 10 128147607 SCLC A T Synonymous p.V503V c.1509T>A 10 128153290 UCEC C A IntronicSNV . c.1720-108G>T 10 128147894 BRCA C A Missense p.D161Y c.481G>T 10 128193288 CLL C A Nonsense p.E127* c.379G>T 10 128193390 LUSC CAT - IntronicDeletion . c.1243+10035_1243+10037delATG 10 128182489 CLL C G Missense p.E276Q c.826G>C 10 128192943 BRCA C G Synonymous p.L631L c.1893G>C 10 128147613 LUSC C T IntronicSNV . c.1897+14535G>A 10 128133074 CLL C T Missense p.A575T c.1723G>A 10 128147783 PRAD C T Missense p.E372K c.1114G>A 10 128192655 PRAD C T Missense p.G386R c.1156G>A 10 128192613 BLCA C T Missense p.R206Q c.617G>A 10 128193152 LUAD C T Missense p.R64K c.191G>A 10 128193578 BRCA C T Synonymous p.L631L c.1893G>A 10 128147613 ESCA C T Synonymous p.P660P c.1980G>A 10 128114641 COREAD C T Synonymous p.P660P c.1980G>A 10 128114641 HNSC C T Synonymous p.T143T c.429G>A 10 128193340 LUAD C T Synonymous p.T143T c.429G>A 10 128193340 STAD G A 5-UTRSNV . c.1-41C>T 10 128209930 CM G A 5-UTRSNV . c.1-68C>T 10 128209957 CM G A Missense p.A194V c.581C>T 10 128193188 THCA G A Missense p.L25F c.73C>T 10 128202458 CM G A Missense p.L694F c.2080C>T 10 128114453 BRCA G A Missense p.P110L c.329C>T 10 128193440 UCEC G A Missense p.P129L c.386C>T 10 128193383 CM G A Missense p.P149S c.445C>T 10 128193324 THCA G A Missense p.P630L c.1889C>T 10 128147617 CM G A Missense p.R10W c.28C>T 10 128202503 COREAD G A Missense p.R681C c.2041C>T 10 128114580 CM G A Missense p.S250F c.749C>T 10 128193020 CM G A Missense p.S63L c.188C>T 10 128193581 THCA G A Nonsense p.R651* c.1951C>T 10 128118366 COREAD G A Nonsense p.R651* c.1951C>T 10 128118366 LUAD G A Synonymous p.C516C c.1548C>T 10 128150141 LUSC G A Synonymous p.F198F c.594C>T 10 128193175 BLCA G A Synonymous p.F448F c.1344C>T 10 128153455 CM G A Synonymous p.F476F c.1428C>T 10 128153371 BRCA G A Synonymous p.F583F c.1749C>T 10 128147757 CM G A Synonymous p.F625F c.1875C>T 10 128147631 CM G A Synonymous p.G132G c.396C>T 10 128193373 HNSC G A Synonymous p.I674I c.2022C>T 10 128114599 LUAD GCACACACACAC - IntronicDeletion . c.1243+1895_1243+1906delTGCGTGTGTGTG 10 128190629 CLL G C Missense p.F636L c.1908C>G 10 128118409 LUAD G C Missense p.I142M c.426C>G 10 128193343 LUAD G C Missense p.Q19E c.55C>G 10 128202476 LUAD G C Missense p.Q279E c.835C>G 10 128192934 BLCA G C Missense p.S569C c.1706C>G 10 128149983 COREAD G - Frameshift p.P150Qfs*58 c.449delC 10 128193320 STAD GG AA Missense p.L694F c.2079_2080delinsTT 10 128114453 CM G T Missense p.A437D c.1310C>A 10 128153489 LUSC G T Missense p.A682D c.2045C>A 10 128114576 HC G T Missense p.L25I c.73C>A 10 128202458 MM G T Missense p.P546H c.1637C>A 10 128150052 LUSC G T Missense p.P566T c.1696C>A 10 128149993 LUAD G T Missense p.P628T c.1882C>A 10 128147624 LUAD G T Missense p.S614R c.1842C>A 10 128147664 LUAD G T Synonymous p.P546P c.1638C>A 10 128150051 LUSC G T Synonymous p.T620T c.1860C>A 10 128147646 LUAD G T Synonymous p.T620T c.1860C>A 10 128147646 LUSC - T 3-UTRInsertion . c.2097+247dupA 10 128114189 HC T A Missense p.K664M c.1991A>T 10 128114630 LUSC T C 5-UTRSNV . c.1-62A>G 10 128209951 ESCA TC AA MultiAAMissense p.K664_K665delinsN* c.1992_1993delinsTT 10 128114628 OV T C Missense p.H286R c.857A>G 10 128192912 STAD T C Missense p.K418E c.1252A>G 10 128153547 LUSC T C Missense p.T534A c.1600A>G 10 128150089 STAD T C Synonymous p.E317E c.951A>G 10 128192818 UCEC T G Missense p.K62T c.185A>C 10 128193584 STAD T G Missense p.Q573H c.1719A>C 10 128149970 ESCA