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 2 135965341 135965341 + Missense_Mutation SNP G G A TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 g.chr2:135965341G>A c.2672C>T c.(2671-2673)aCt>aTt p.T891I BLCA 2 135960517 135960517 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr2:135960517C>T c.3026G>A c.(3025-3027)aGa>aAa p.R1009K BLCA 2 135965023 135965023 + Missense_Mutation SNP G G A TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr2:135965023G>A c.2990C>T c.(2989-2991)tCa>tTa p.S997L BLCA 2 135965399 135965399 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr2:135965399G>C c.2614C>G c.(2614-2616)Ctt>Gtt p.L872V BLCA 2 136023144 136023144 + Missense_Mutation SNP T T A TCGA-BL-A5ZZ-01A-31D-A30E-08 TCGA-BL-A5ZZ-10A-01D-A30H-08 g.chr2:136023144T>A c.1499A>T c.(1498-1500)gAc>gTc p.D500V BLCA 2 136071137 136071137 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chr2:136071137C>T c.888G>A c.(886-888)atG>atA p.M296I BLCA 2 136071137 136071137 + Missense_Mutation SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr2:136071137C>T c.888G>A c.(886-888)atG>atA p.M296I BLCA 2 136071154 136071154 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chr2:136071154C>G c.871G>C c.(871-873)Gag>Cag p.E291Q BLCA 2 136073068 136073068 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr2:136073068C>T c.710G>A c.(709-711)aGa>aAa p.R237K BLCA 2 136107676 136107676 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 g.chr2:136107676C>G c.469G>C c.(469-471)Gat>Cat p.D157H BLCA 2 136107719 136107719 + Silent SNP C C T TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr2:136107719C>T c.426G>A c.(424-426)ttG>ttA p.L142L BLCA 2 136107733 136107733 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 g.chr2:136107733C>T c.412G>A c.(412-414)Gat>Aat p.D138N BLCA 2 136111039 136111039 + Nonsense_Mutation SNP G G A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 g.chr2:136111039G>A c.340C>T c.(340-342)Cag>Tag p.Q114* BLCA 2 136111058 136111058 + Silent SNP T T A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr2:136111058T>A c.321A>T c.(319-321)ccA>ccT p.P107P BLCA 2 136261993 136261993 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr2:136261993C>G c.67G>C c.(67-69)Gat>Cat p.D23H BRCA 2 135957918 135957918 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr2:135957918C>A c.3234G>T c.(3232-3234)aaG>aaT p.K1078N BRCA 2 135957946 135957946 + Missense_Mutation SNP C C A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr2:135957946C>A c.3206G>T c.(3205-3207)gGa>gTa p.G1069V BRCA 2 135965152 135965152 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr2:135965152C>T c.2861G>A c.(2860-2862)aGa>aAa p.R954K BRCA 2 135965355 135965355 + Silent SNP G G A TCGA-LL-A5YL-01A-12D-A29N-09 TCGA-LL-A5YL-10A-01D-A29N-09 g.chr2:135965355G>A c.2658C>T c.(2656-2658)gtC>gtT p.V886V BRCA 2 135966549 135966549 + Splice_Site SNP C C A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 g.chr2:135966549C>A c.e18-1 BRCA 2 135985408 135985410 + In_Frame_Del DEL TCT TCT - TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr2:135985408_135985410delTCT c.2130_2132delAGA c.(2128-2133)gaagac>gac p.E710del BRCA 2 135988317 135988317 + Missense_Mutation SNP C C T TCGA-D8-A1JK-01A-11D-A13L-09 TCGA-D8-A1JK-10A-01D-A13O-09 g.chr2:135988317C>T c.1720G>A c.(1720-1722)Gaa>Aaa p.E574K BRCA 2 135988439 135988439 + Missense_Mutation SNP C C A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 g.chr2:135988439C>A c.1598G>T c.(1597-1599)aGa>aTa p.R533I BRCA 2 136023137 136023137 + Silent SNP A A C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 g.chr2:136023137A>C c.1506T>G c.(1504-1506)tcT>tcG p.S502S BRCA 2 136103162 136103162 + Missense_Mutation SNP C C T TCGA-A2-A0CX-01A-21W-A019-09 TCGA-A2-A0CX-10A-01W-A021-09 g.chr2:136103162C>T c.635G>A c.(634-636)aGa>aAa p.R212K CESC 2 136071135 136071135 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr2:136071135C>T c.890G>A c.(889-891)aGa>aAa p.R297K COAD 2 135957926 135957926 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:135957926A>G c.3226T>C c.(3226-3228)Ttg>Ctg p.L1076L COAD 2 135957954 135957954 + Silent SNP T T C TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr2:135957954T>C c.3198A>G c.(3196-3198)tcA>tcG p.S1066S COAD 2 135965086 135965086 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:135965086A>C c.2927T>G c.(2926-2928)tTt>tGt p.F976C COAD 2 135965174 135965174 + Nonsense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:135965174G>A c.2839C>T c.(2839-2841)Cga>Tga p.R947* COAD 2 135965174 135965174 + Nonsense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:135965174G>A c.2839C>T c.(2839-2841)Cga>Tga p.R947* COAD 2 135985447 135985447 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr2:135985447G>A c.2093C>T c.(2092-2094)gCt>gTt p.A698V COAD 2 136023119 136023119 + Missense_Mutation SNP T T G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr2:136023119T>G c.1524A>C c.(1522-1524)gaA>gaC p.E508D COAD 2 136029349 136029349 + Missense_Mutation SNP C C G TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr2:136029349C>G c.1195G>C c.(1195-1197)Gct>Cct p.A399P COAD 2 136073066 136073066 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:136073066C>T c.712G>A c.(712-714)Ggg>Agg p.G238R COAD 2 136073101 136073101 + Splice_Site SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:136073101C>T c.e7-1 COAD 2 136261918 136261918 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr2:136261918C>T c.142G>A c.(142-144)Gcc>Acc p.A48T COADREAD 2 135957926 135957926 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:135957926A>G c.3226T>C c.(3226-3228)Ttg>Ctg p.L1076L COADREAD 2 135957954 135957954 + Silent SNP T T C TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr2:135957954T>C c.3198A>G c.(3196-3198)tcA>tcG p.S1066S COADREAD 2 135965086 135965086 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:135965086A>C c.2927T>G c.(2926-2928)tTt>tGt p.F976C COADREAD 2 135965174 135965174 + Nonsense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:135965174G>A c.2839C>T c.(2839-2841)Cga>Tga p.R947* COADREAD 2 135965174 135965174 + Nonsense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:135965174G>A c.2839C>T c.(2839-2841)Cga>Tga p.R947* COADREAD 2 135965372 135965372 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:135965372G>T c.2641C>A c.(2641-2643)Cta>Ata p.L881I COADREAD 2 135985447 135985447 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr2:135985447G>A c.2093C>T c.(2092-2094)gCt>gTt p.A698V COADREAD 2 135985518 135985518 + Silent SNP G G T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr2:135985518G>T c.2022C>A c.(2020-2022)acC>acA p.T674T COADREAD 2 136023119 136023119 + Missense_Mutation SNP T T G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr2:136023119T>G c.1524A>C c.(1522-1524)gaA>gaC p.E508D COADREAD 2 136029349 136029349 + Missense_Mutation SNP C C G TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr2:136029349C>G c.1195G>C c.(1195-1197)Gct>Cct p.A399P COADREAD 2 136073066 136073066 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:136073066C>T c.712G>A c.(712-714)Ggg>Agg p.G238R COADREAD 2 136073101 136073101 + Splice_Site SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:136073101C>T c.e7-1 COADREAD 2 136261918 136261918 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr2:136261918C>T c.142G>A c.(142-144)Gcc>Acc p.A48T DLBC 2 135988236 135988236 + Nonsense_Mutation SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr2:135988236G>A c.1801C>T c.(1801-1803)Cga>Tga p.R601* ESCA 2 135960485 135960485 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 g.chr2:135960485C>A c.3058G>T c.(3058-3060)Gat>Tat p.D1020Y ESCA 2 135965365 135965365 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr2:135965365G>T c.2648C>A c.(2647-2649)cCa>cAa p.P883Q ESCA 2 135982051 135982051 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:135982051T>C c.2195A>G c.(2194-2196)gAc>gGc p.D732G ESCA 2 135985510 135985510 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr2:135985510delT c.2030delA c.(2029-2031)aagfs p.K677fs ESCA 2 136033263 136033264 + Frame_Shift_Ins INS - - C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr2:136033263_136033264insC c.1028_1029insG c.(1027-1029)gttfs p.V343fs ESCA 2 136103154 136103154 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr2:136103154C>T c.643G>A c.(643-645)Gac>Aac p.D215N GBM 2 135958008 135958008 + Silent SNP T T C TCGA-76-4932-01A-01D-1486-08 TCGA-76-4932-10A-01D-1486-08 g.chr2:135958008T>C c.3144A>G c.(3142-3144)agA>agG p.R1048R GBM 2 135960424 135960424 + Missense_Mutation SNP A A G TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 g.chr2:135960424A>G c.3119T>C c.(3118-3120)cTc>cCc p.L1040P GBM 2 135965224 135965224 + Missense_Mutation SNP G G T TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 g.chr2:135965224G>T c.2789C>A c.(2788-2790)tCt>tAt p.S930Y GBMLGG 2 135958008 135958008 + Silent SNP T T C TCGA-76-4932-01A-01D-1486-08 TCGA-76-4932-10A-01D-1486-08 g.chr2:135958008T>C c.3144A>G c.(3142-3144)agA>agG p.R1048R GBMLGG 2 135960424 135960424 + Missense_Mutation SNP A A G TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 g.chr2:135960424A>G c.3119T>C c.(3118-3120)cTc>cCc p.L1040P GBMLGG 2 135965224 135965224 + Missense_Mutation SNP G G T TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 g.chr2:135965224G>T c.2789C>A c.(2788-2790)tCt>tAt p.S930Y GBMLGG 2 136071064 136071064 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:136071064C>T c.961G>A c.(961-963)Gcc>Acc p.A321T HNSC 2 135965229 135965229 + Silent SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 g.chr2:135965229C>T c.2784G>A c.(2782-2784)gcG>gcA p.A928A HNSC 2 135965292 135965292 + Silent SNP T T C TCGA-QK-A6IJ-01A-11D-A31L-08 TCGA-QK-A6IJ-10A-01D-A31J-08 g.chr2:135965292T>C c.2721A>G c.(2719-2721)gaA>gaG p.E907E HNSC 2 135988170 135988170 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 g.chr2:135988170C>G c.1867G>C c.(1867-1869)Gag>Cag p.E623Q HNSC 2 135988280 135988280 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:135988280T>C c.1757A>G c.(1756-1758)cAc>cGc p.H586R HNSC 2 136107559 136107559 + Nonsense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 g.chr2:136107559C>A c.586G>T c.(586-588)Gaa>Taa p.E196* HNSC 2 136111147 136111147 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 g.chr2:136111147C>G c.232G>C c.(232-234)Gag>Cag p.E78Q KIPAN 2 135966529 135966529 + Missense_Mutation SNP C C G TCGA-B0-5402-01A-01D-1501-10 TCGA-B0-5402-11A-01D-1501-10 g.chr2:135966529C>G c.2515G>C c.(2515-2517)Gtt>Ctt p.V839L KIPAN 2 135988115 135988115 + Missense_Mutation SNP C C T TCGA-P4-A5E7-01A-31D-A28G-10 TCGA-P4-A5E7-11A-11D-A28G-10 g.chr2:135988115C>T c.1922G>A c.(1921-1923)tGt>tAt p.C641Y KIRC 2 135966529 135966529 + Missense_Mutation SNP C C G TCGA-B0-5402-01A-01D-1501-10 TCGA-B0-5402-11A-01D-1501-10 g.chr2:135966529C>G c.2515G>C c.(2515-2517)Gtt>Ctt p.V839L KIRP 2 135988115 135988115 + Missense_Mutation SNP C C T TCGA-P4-A5E7-01A-31D-A28G-10 TCGA-P4-A5E7-11A-11D-A28G-10 g.chr2:135988115C>T c.1922G>A c.(1921-1923)tGt>tAt p.C641Y LGG 2 136071064 136071064 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:136071064C>T c.961G>A c.(961-963)Gcc>Acc p.A321T LIHC 2 135976732 135976732 + Missense_Mutation SNP C C T TCGA-DD-A73E-01A-12D-A32G-10 TCGA-DD-A73E-10A-01D-A32G-10 g.chr2:135976732C>T c.2267G>A c.(2266-2268)aGc>aAc p.S756N LIHC 2 135985392 135985392 + Missense_Mutation SNP C C G TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr2:135985392C>G c.2148G>C c.(2146-2148)caG>caC p.Q716H LIHC 2 135985575 135985575 + Missense_Mutation SNP T T C TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr2:135985575T>C c.1965A>G c.(1963-1965)atA>atG p.I655M LIHC 2 136026637 136026637 + Silent SNP T T C TCGA-UB-AA0U-01A-11D-A382-10 TCGA-UB-AA0U-10A-01D-A385-10 g.chr2:136026637T>C c.1281A>G c.(1279-1281)gcA>gcG p.A427A LIHC 2 136029454 136029454 + Missense_Mutation SNP G G A TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr2:136029454G>A c.1090C>T c.(1090-1092)Cgt>Tgt p.R364C LIHC 2 136071142 136071142 + Missense_Mutation SNP T T A TCGA-MR-A8JO-01A-12D-A35Z-10 TCGA-MR-A8JO-10A-01D-A35Z-10 g.chr2:136071142T>A c.883A>T c.(883-885)Ata>Tta p.I295L LUAD 2 135965138 135965138 + Missense_Mutation SNP C C G TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr2:135965138C>G c.2875G>C c.(2875-2877)Gaa>Caa p.E959Q LUAD 2 135966448 135966448 + Missense_Mutation SNP G G C TCGA-44-A47A-01A-21D-A24D-08 TCGA-44-A47A-10A-01D-A24F-08 g.chr2:135966448G>C c.2596C>G c.(2596-2598)Cct>Gct p.P866A LUAD 2 135982056 135982056 + Silent SNP C C A TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr2:135982056C>A c.2190G>T c.(2188-2190)gtG>gtT p.V730V LUAD 2 135988167 135988167 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 g.chr2:135988167C>G c.1870G>C c.(1870-1872)Ggc>Cgc p.G624R LUAD 2 135988469 135988469 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chr2:135988469C>G c.1568G>C c.(1567-1569)cGa>cCa p.R523P LUAD 2 136026550 136026550 + Nonsense_Mutation SNP C C T TCGA-62-8398-01A-11D-2323-08 TCGA-62-8398-10A-01D-2323-08 g.chr2:136026550C>T c.1368G>A c.(1366-1368)tgG>tgA p.W456* LUAD 2 136033319 136033319 + Missense_Mutation SNP C C T TCGA-73-4677-01A-01D-1265-08 TCGA-73-4677-11A-01D-1265-08 g.chr2:136033319C>T c.973G>A c.(973-975)Gct>Act p.A325T LUAD 2 136107556 136107556 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 g.chr2:136107556C>T c.589G>A c.(589-591)Gag>Aag p.E197K LUAD 2 136261918 136261918 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 g.chr2:136261918C>A c.142G>T c.(142-144)Gcc>Tcc p.A48S LUSC 2 135965099 135965099 + Missense_Mutation SNP C C A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr2:135965099C>A c.2914G>T c.(2914-2916)Gca>Tca p.A972S LUSC 2 135965199 135965199 + Silent SNP C C A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr2:135965199C>A c.2814G>T c.(2812-2814)ctG>ctT p.L938L LUSC 2 135966512 135966512 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr2:135966512C>T c.2532G>A c.(2530-2532)atG>atA p.M844I LUSC 2 135975078 135975078 + Missense_Mutation SNP C C T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr2:135975078C>T c.2452G>A c.(2452-2454)Gaa>Aaa p.E818K LUSC 2 135988217 135988217 + Missense_Mutation SNP C C A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 g.chr2:135988217C>A c.1820G>T c.(1819-1821)aGt>aTt p.S607I LUSC 2 135988481 135988481 + Missense_Mutation SNP T T C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr2:135988481T>C c.1556A>G c.(1555-1557)cAg>cGg p.Q519R LUSC 2 136107557 136107557 + Missense_Mutation SNP T T G TCGA-63-5128-01A-01D-1441-08 TCGA-63-5128-10A-01D-1441-08 g.chr2:136107557T>G c.588A>C c.(586-588)gaA>gaC p.E196D PAAD 2 135988368 135988368 + Missense_Mutation SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 g.chr2:135988368T>C c.1669A>G c.(1669-1671)Aca>Gca p.T557A PAAD 2 136033212 136033212 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:136033212T>G c.1080A>C c.(1078-1080)gaA>gaC p.E360D PAAD 2 136071117 136071117 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 g.chr2:136071117G>A c.908C>T c.(907-909)gCc>gTc p.A303V PRAD 2 135965229 135965229 + Silent SNP C C T TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 g.chr2:135965229C>T c.2784G>A c.(2782-2784)gcG>gcA p.A928A PRAD 2 135965348 135965348 + Missense_Mutation SNP C C A TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 g.chr2:135965348C>A c.2665G>T c.(2665-2667)Gat>Tat p.D889Y PRAD 2 135988257 135988257 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:135988257G>A c.1780C>T c.(1780-1782)Cca>Tca p.P594S READ 2 135965372 135965372 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:135965372G>T c.2641C>A c.(2641-2643)Cta>Ata p.L881I READ 2 135985518 135985518 + Silent SNP G G T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr2:135985518G>T c.2022C>A c.(2020-2022)acC>acA p.T674T SARC 2 135975070 135975070 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 g.chr2:135975070G>A c.2460C>T c.(2458-2460)atC>atT p.I820I SARC 2 136029338 136029338 + Splice_Site SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr2:136029338C>T c.1206G>A c.(1204-1206)caG>caA p.Q402Q SARC 2 136029367 136029367 + Missense_Mutation SNP C C G TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 g.chr2:136029367C>G c.1177G>C c.(1177-1179)Gct>Cct p.A393P SKCM 2 135960445 135960445 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr2:135960445G>A c.3098C>T c.(3097-3099)tCc>tTc p.S1033F SKCM 2 135966509 135966509 + Silent SNP G G A TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr2:135966509G>A c.2535C>T c.(2533-2535)gaC>gaT p.D845D SKCM 2 135982014 135982014 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 g.chr2:135982014C>T c.2232G>A c.(2230-2232)cgG>cgA p.R744R SKCM 2 135985436 135985436 + Missense_Mutation SNP C C T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:135985436C>T c.2104G>A c.(2104-2106)Gaa>Aaa p.E702K SKCM 2 135988271 135988271 + Missense_Mutation SNP G G A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr2:135988271G>A c.1766C>T c.(1765-1767)cCg>cTg p.P589L SKCM 2 135988470 135988470 + Nonsense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr2:135988470G>A c.1567C>T c.(1567-1569)Cga>Tga p.R523* SKCM 2 136023176 136023176 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr2:136023176G>A c.1467C>T c.(1465-1467)ttC>ttT p.F489F SKCM 2 136026661 136026661 + Nonsense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr2:136026661C>T c.1257G>A c.(1255-1257)tgG>tgA p.W419* SKCM 2 136033229 136033229 + Missense_Mutation SNP T T G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr2:136033229T>G c.1063A>C c.(1063-1065)Aca>Cca p.T355P SKCM 2 136111119 136111119 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:136111119G>A c.260C>T c.(259-261)cCt>cTt p.P87L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 2 135985465 135985465 single base substitution G A 3_prime_UTR_variant AML-US 2 135985465 135985465 single base substitution G A exon_variant AML-US 2 135985465 135985465 single base substitution G A missense_variant S692L 2075C>T BLCA-US 2 135908057 135908057 single base substitution C T intron_variant BLCA-US 2 135911282 135911282 single base substitution G A intron_variant BLCA-US 2 135922214 135922214 single base substitution G A intron_variant BLCA-US 2 135922246 135922246 single base substitution C T intron_variant BLCA-US 2 135960517 135960517 single base substitution C T 3_prime_UTR_variant BLCA-US 2 135960517 135960517 single base substitution C T exon_variant BLCA-US 2 135960517 135960517 single base substitution C T missense_variant R1007K 3020G>A BLCA-US 2 135960517 135960517 single base substitution C T missense_variant R1009K 3026G>A BLCA-US 2 136107676 136107676 single base substitution C G downstream_gene_variant BLCA-US 2 136107676 136107676 single base substitution C G exon_variant BLCA-US 2 136107676 136107676 single base substitution C G missense_variant D157H 469G>C BLCA-US 2 136107733 136107733 single base substitution C T downstream_gene_variant BLCA-US 2 136107733 136107733 single base substitution C T exon_variant BLCA-US 2 136107733 136107733 single base substitution C T missense_variant D138N 412G>A BRCA-EU 2 135889557 135889557 single base substitution C T downstream_gene_variant BRCA-EU 2 135889647 135889647 single base substitution C T downstream_gene_variant BRCA-EU 2 135889888 135889888 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 135889905 135889905 single base substitution G A downstream_gene_variant BRCA-EU 2 135891216 135891216 single base substitution C G downstream_gene_variant BRCA-EU 2 135891353 135891353 single base substitution C G downstream_gene_variant BRCA-EU 2 135891748 135891748 single base substitution C A downstream_gene_variant BRCA-EU 2 135895432 135895432 single base substitution G A intron_variant BRCA-EU 2 135896327 135896327 single base substitution C T intron_variant BRCA-EU 2 135898004 135898004 single base substitution G A intron_variant BRCA-EU 2 135898673 135898673 insertion of <=200bp - T intron_variant BRCA-EU 2 135898695 135898695 insertion of <=200bp - T intron_variant BRCA-EU 2 135899748 135899748 single base substitution C G intron_variant BRCA-EU 2 135900149 135900149 single base substitution C G intron_variant BRCA-EU 2 135900942 135900942 single base substitution T G intron_variant BRCA-EU 2 135901213 135901213 single base substitution C T intron_variant BRCA-EU 2 135901370 135901370 single base substitution C T intron_variant BRCA-EU 2 135902713 135902713 single base substitution C T intron_variant BRCA-EU 2 135905879 135905879 single base substitution T G intron_variant BRCA-EU 2 135907996 135907996 single base substitution T C intron_variant BRCA-EU 2 135908277 135908277 single base substitution C G intron_variant BRCA-EU 2 135908528 135908528 single base substitution C G intron_variant BRCA-EU 2 135910615 135910615 single base substitution A T intron_variant BRCA-EU 2 135912065 135912065 single base substitution A G intron_variant BRCA-EU 2 135912583 135912583 single base substitution C G intron_variant BRCA-EU 2 135913080 135913080 single base substitution T A intron_variant BRCA-EU 2 135913573 135913573 single base substitution T G intron_variant BRCA-EU 2 135914175 135914175 single base substitution G T intron_variant BRCA-EU 2 135915807 135915807 deletion of <=200bp T - intron_variant BRCA-EU 2 135916233 135916233 single base substitution C G intron_variant BRCA-EU 2 135919259 135919259 deletion of <=200bp A - intron_variant BRCA-EU 2 135919657 135919657 insertion of <=200bp - A intron_variant BRCA-EU 2 135919739 135919739 single base substitution C T intron_variant BRCA-EU 2 135920007 135920007 single base substitution C T exon_variant BRCA-EU 2 135920928 135920928 single base substitution C A intron_variant BRCA-EU 2 135921770 135921770 deletion of <=200bp A - intron_variant BRCA-EU 2 135921839 135921839 deletion of <=200bp T - intron_variant BRCA-EU 2 135923272 135923278 multiple base substitution (>=2bp and <=200bp) GATGCTT GATTT intron_variant BRCA-EU 2 135923279 135923279 single base substitution G A intron_variant BRCA-EU 2 135923280 135923280 single base substitution C T intron_variant BRCA-EU 2 135923828 135923828 single base substitution A T intron_variant BRCA-EU 2 135924065 135924065 single base substitution T C intron_variant BRCA-EU 2 135925536 135925536 single base substitution C T intron_variant BRCA-EU 2 135926010 135926010 single base substitution G A intron_variant BRCA-EU 2 135926969 135926969 single base substitution C G intron_variant BRCA-EU 2 135927330 135927330 deletion of <=200bp C - intron_variant BRCA-EU 2 135927729 135927729 deletion of <=200bp T - intron_variant BRCA-EU 2 135930812 135930812 single base substitution A T intron_variant BRCA-EU 2 135930894 135930894 single base substitution G T intron_variant BRCA-EU 2 135933097 135933097 single base substitution A G intron_variant BRCA-EU 2 135933227 135933230 deletion of <=200bp CTTT - intron_variant BRCA-EU 2 135934137 135934137 single base substitution C G intron_variant BRCA-EU 2 135935385 135935385 single base substitution G T intron_variant BRCA-EU 2 135935765 135935765 single base substitution G C intron_variant BRCA-EU 2 135935884 135935884 single base substitution G A intron_variant BRCA-EU 2 135936136 135936136 single base substitution T C intron_variant BRCA-EU 2 135936494 135936494 single base substitution A T intron_variant BRCA-EU 2 135936955 135936955 single base substitution G A intron_variant BRCA-EU 2 135937081 135937081 single base substitution C T intron_variant BRCA-EU 2 135938480 135938480 single base substitution C G intron_variant BRCA-EU 2 135938947 135938947 single base substitution T G intron_variant BRCA-EU 2 135939168 135939168 single base substitution A G intron_variant BRCA-EU 2 135939265 135939265 single base substitution C A intron_variant BRCA-EU 2 135940501 135940501 single base substitution T G intron_variant BRCA-EU 2 135940645 135940645 single base substitution T C intron_variant BRCA-EU 2 135941107 135941107 single base substitution C T intron_variant BRCA-EU 2 135941596 135941604 deletion of <=200bp TATATTTCC - intron_variant BRCA-EU 2 135941810 135941810 single base substitution T C intron_variant BRCA-EU 2 135942717 135942717 single base substitution C G intron_variant BRCA-EU 2 135943695 135943695 single base substitution T G intron_variant BRCA-EU 2 135944156 135944156 single base substitution C G intron_variant BRCA-EU 2 135944824 135944824 single base substitution T G intron_variant BRCA-EU 2 135944912 135944912 single base substitution G A intron_variant BRCA-EU 2 135945915 135945915 single base substitution C G intron_variant BRCA-EU 2 135946685 135946685 single base substitution G A intron_variant BRCA-EU 2 135946875 135946875 single base substitution A G intron_variant BRCA-EU 2 135946894 135946894 single base substitution C G intron_variant BRCA-EU 2 135947855 135947855 single base substitution C G intron_variant BRCA-EU 2 135948141 135948141 single base substitution C G intron_variant BRCA-EU 2 135948376 135948376 single base substitution C T intron_variant BRCA-EU 2 135949567 135949567 single base substitution G C downstream_gene_variant BRCA-EU 2 135949567 135949567 single base substitution G C intron_variant BRCA-EU 2 135949576 135949576 single base substitution G A downstream_gene_variant BRCA-EU 2 135949576 135949576 single base substitution G A intron_variant BRCA-EU 2 135950025 135950025 single base substitution G A downstream_gene_variant BRCA-EU 2 135950025 135950025 single base substitution G A intron_variant BRCA-EU 2 135950088 135950088 single base substitution C T downstream_gene_variant BRCA-EU 2 135950088 135950088 single base substitution C T intron_variant BRCA-EU 2 135950127 135950127 single base substitution A C downstream_gene_variant BRCA-EU 2 135950127 135950127 single base substitution A C intron_variant BRCA-EU 2 135950449 135950449 single base substitution C G downstream_gene_variant BRCA-EU 2 135950449 135950449 single base substitution C G intron_variant BRCA-EU 2 135951942 135951942 single base substitution T A downstream_gene_variant BRCA-EU 2 135951942 135951942 single base substitution T A intron_variant BRCA-EU 2 135953082 135953082 single base substitution C A downstream_gene_variant BRCA-EU 2 135953082 135953082 single base substitution C A intron_variant BRCA-EU 2 135954866 135954866 single base substitution A G 3_prime_UTR_variant BRCA-EU 2 135954866 135954866 single base substitution A G downstream_gene_variant BRCA-EU 2 135954866 135954866 single base substitution A G intron_variant BRCA-EU 2 135955102 135955102 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 135955102 135955102 single base substitution C G downstream_gene_variant BRCA-EU 2 135955102 135955102 single base substitution C G intron_variant BRCA-EU 2 135955373 135955373 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 135955373 135955373 single base substitution C T downstream_gene_variant BRCA-EU 2 135955373 135955373 single base substitution C T intron_variant BRCA-EU 2 135955783 135955783 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 135955783 135955783 single base substitution G A downstream_gene_variant BRCA-EU 2 135955783 135955783 single base substitution G A intron_variant BRCA-EU 2 135955894 135955894 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 135955894 135955894 single base substitution C G downstream_gene_variant BRCA-EU 2 135955894 135955894 single base substitution C G intron_variant BRCA-EU 2 135955963 135955963 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 135955963 135955963 single base substitution G A downstream_gene_variant BRCA-EU 2 135955963 135955963 single base substitution G A intron_variant BRCA-EU 2 135956154 135956154 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 135956154 135956154 single base substitution C T downstream_gene_variant BRCA-EU 2 135956154 135956154 single base substitution C T intron_variant BRCA-EU 2 135957536 135957536 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 135957536 135957536 single base substitution C G downstream_gene_variant BRCA-EU 2 135957536 135957536 single base substitution C G intron_variant BRCA-EU 2 135958173 135958173 single base substitution C G downstream_gene_variant BRCA-EU 2 135958173 135958173 single base substitution C G intron_variant BRCA-EU 2 135958871 135958871 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 135958871 135958871 deletion of <=200bp T - intron_variant BRCA-EU 2 135960327 135960327 single base substitution C G exon_variant BRCA-EU 2 135960327 135960327 single base substitution C G intron_variant BRCA-EU 2 135963416 135963416 single base substitution G A intron_variant BRCA-EU 2 135963859 135963859 single base substitution G T intron_variant BRCA-EU 2 135964905 135964905 single base substitution A G intron_variant BRCA-EU 2 135965212 135965212 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 135965212 135965212 single base substitution C G exon_variant BRCA-EU 2 135965212 135965212 single base substitution C G missense_variant R932P 2795G>C BRCA-EU 2 135965212 135965212 single base substitution C G missense_variant R934P 2801G>C BRCA-EU 2 135965212 135965212 single base substitution C G upstream_gene_variant BRCA-EU 2 135967130 135967130 single base substitution G C intron_variant BRCA-EU 2 135967130 135967130 single base substitution G C upstream_gene_variant BRCA-EU 2 135968478 135968478 single base substitution A G intron_variant BRCA-EU 2 135968478 135968478 single base substitution A G upstream_gene_variant BRCA-EU 2 135970342 135970355 deletion of <=200bp AAAGTGTACGTTGC - intron_variant BRCA-EU 2 135970954 135970954 single base substitution G A intron_variant BRCA-EU 2 135973482 135973482 single base substitution C G intron_variant BRCA-EU 2 135973807 135973807 single base substitution C T intron_variant BRCA-EU 2 135974054 135974054 single base substitution G A intron_variant BRCA-EU 2 135975448 135975448 single base substitution C T intron_variant BRCA-EU 2 135975562 135975562 single base substitution C T intron_variant BRCA-EU 2 135977821 135977821 single base substitution G C downstream_gene_variant BRCA-EU 2 135977821 135977821 single base substitution G C intron_variant BRCA-EU 2 135978005 135978005 single base substitution C G downstream_gene_variant BRCA-EU 2 135978005 135978005 single base substitution C G intron_variant BRCA-EU 2 135978924 135978924 single base substitution C G downstream_gene_variant BRCA-EU 2 135978924 135978924 single base substitution C G intron_variant BRCA-EU 2 135980106 135980106 single base substitution C G downstream_gene_variant BRCA-EU 2 135980106 135980106 single base substitution C G intron_variant BRCA-EU 2 135980564 135980564 single base substitution C A downstream_gene_variant BRCA-EU 2 135980564 135980564 single base substitution C A intron_variant BRCA-EU 2 135982555 135982555 single base substitution G C intron_variant BRCA-EU 2 135983108 135983108 single base substitution C T intron_variant BRCA-EU 2 135983925 135983925 single base substitution C T intron_variant BRCA-EU 2 135984432 135984432 single base substitution C G intron_variant BRCA-EU 2 135985496 135985496 single base substitution A T 3_prime_UTR_variant BRCA-EU 2 135985496 135985496 single base substitution A T exon_variant BRCA-EU 2 135985496 135985496 single base substitution A T missense_variant S682T 2044T>A BRCA-EU 2 135986250 135986250 single base substitution G C intron_variant BRCA-EU 2 135986250 135986250 single base substitution G C upstream_gene_variant BRCA-EU 2 135986504 135986504 single base substitution G T intron_variant BRCA-EU 2 135986504 135986504 single base substitution G T upstream_gene_variant BRCA-EU 2 135986915 135986915 single base substitution T A intron_variant BRCA-EU 2 135986915 135986915 single base substitution T A upstream_gene_variant BRCA-EU 2 135987581 135987581 single base substitution G C intron_variant BRCA-EU 2 135987581 135987581 single base substitution G C upstream_gene_variant BRCA-EU 2 135987930 135987930 single base substitution C T intron_variant BRCA-EU 2 135987930 135987930 single base substitution C T upstream_gene_variant BRCA-EU 2 135988742 135988742 single base substitution C G intron_variant BRCA-EU 2 135988742 135988742 single base substitution C G upstream_gene_variant BRCA-EU 2 135988954 135988954 deletion of <=200bp A - intron_variant BRCA-EU 2 135988954 135988954 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 135989167 135989167 deletion of <=200bp A - intron_variant BRCA-EU 2 135989167 135989167 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 135989547 135989547 single base substitution C T intron_variant BRCA-EU 2 135989547 135989547 single base substitution C T upstream_gene_variant BRCA-EU 2 135991121 135991121 single base substitution G A intron_variant BRCA-EU 2 135991998 135991998 single base substitution T A intron_variant BRCA-EU 2 135993748 135993748 single base substitution C T intron_variant BRCA-EU 2 135998390 135998390 single base substitution T C intron_variant BRCA-EU 2 135998390 135998390 single base substitution T C upstream_gene_variant BRCA-EU 2 136000802 136000802 single base substitution G C intron_variant BRCA-EU 2 136000802 136000802 single base substitution G C upstream_gene_variant BRCA-EU 2 136001925 136001925 single base substitution C G intron_variant BRCA-EU 2 136003353 136003353 single base substitution G A intron_variant BRCA-EU 2 136004695 136004695 single base substitution C G intron_variant BRCA-EU 2 136004928 136004928 single base substitution G T intron_variant BRCA-EU 2 136005125 136005125 deletion of <=200bp T - intron_variant BRCA-EU 2 136007216 136007216 single base substitution T G intron_variant BRCA-EU 2 136007912 136007912 single base substitution G T intron_variant BRCA-EU 2 136009285 136009285 single base substitution C G intron_variant BRCA-EU 2 136009851 136009851 single base substitution A G intron_variant BRCA-EU 2 136011779 136011779 single base substitution C T intron_variant BRCA-EU 2 136011932 136011932 deletion of <=200bp T - intron_variant BRCA-EU 2 136012504 136012504 single base substitution G T intron_variant BRCA-EU 2 136013281 136013281 single base substitution T A intron_variant BRCA-EU 2 136013895 136013895 deletion of <=200bp T - intron_variant BRCA-EU 2 136013983 136013983 single base substitution C T intron_variant BRCA-EU 2 136014533 136014533 single base substitution T C intron_variant BRCA-EU 2 136015040 136015040 single base substitution T A intron_variant BRCA-EU 2 136015042 136015042 single base substitution G T intron_variant BRCA-EU 2 136015725 136015725 single base substitution C G intron_variant BRCA-EU 2 136019351 136019351 single base substitution C G intron_variant BRCA-EU 2 136020403 136020403 single base substitution A C intron_variant BRCA-EU 2 136021057 136021057 single base substitution G A intron_variant BRCA-EU 2 136021376 136021376 single base substitution C T intron_variant BRCA-EU 2 136023068 136023068 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 136023068 136023068 deletion of <=200bp A - intron_variant BRCA-EU 2 136023416 136023416 single base substitution C T downstream_gene_variant BRCA-EU 2 136023416 136023416 single base substitution C T intron_variant BRCA-EU 2 136024483 136024483 single base substitution C G downstream_gene_variant BRCA-EU 2 136024483 136024483 single base substitution C G intron_variant BRCA-EU 2 136025035 136025035 single base substitution G C downstream_gene_variant BRCA-EU 2 136025035 136025035 single base substitution G C intron_variant BRCA-EU 2 136025102 136025102 single base substitution G A downstream_gene_variant BRCA-EU 2 136025102 136025102 single base substitution G A intron_variant BRCA-EU 2 136028531 136028531 single base substitution C G intron_variant BRCA-EU 2 136030076 136030076 single base substitution C T intron_variant BRCA-EU 2 136030864 136030864 single base substitution T G intron_variant BRCA-EU 2 136031312 136031312 single base substitution G A intron_variant BRCA-EU 2 136031653 136031693 multiple base substitution (>=2bp and <=200bp) TTAATGTATAGCACTTTATTATAACTCTTCCTATGAAGGAA TGAGAAG intron_variant BRCA-EU 2 136032149 136032149 deletion of <=200bp T - intron_variant BRCA-EU 2 136032596 136032596 single base substitution T C intron_variant BRCA-EU 2 136035992 136035992 single base substitution C T intron_variant BRCA-EU 2 136036251 136036251 single base substitution A C intron_variant BRCA-EU 2 136038363 136038363 single base substitution A G intron_variant BRCA-EU 2 136039206 136039206 single base substitution C T intron_variant BRCA-EU 2 136039240 136039240 single base substitution C G intron_variant BRCA-EU 2 136039344 136039344 single base substitution G T intron_variant BRCA-EU 2 136039348 136039348 single base substitution C G intron_variant BRCA-EU 2 136039648 136039648 single base substitution T C intron_variant BRCA-EU 2 136042751 136042751 single base substitution C T intron_variant BRCA-EU 2 136046666 136046666 single base substitution C A intron_variant BRCA-EU 2 136047711 136047711 single base substitution T C intron_variant BRCA-EU 2 136048205 136048205 single base substitution G C intron_variant BRCA-EU 2 136048255 136048255 single base substitution C T intron_variant BRCA-EU 2 136049614 136049614 single base substitution C T intron_variant BRCA-EU 2 136051729 136051729 single base substitution C A intron_variant BRCA-EU 2 136051729 136051729 single base substitution C T intron_variant BRCA-EU 2 136051920 136051920 single base substitution C G intron_variant BRCA-EU 2 136057159 136057159 single base substitution C T intron_variant BRCA-EU 2 136058761 136058761 single base substitution T A intron_variant BRCA-EU 2 136058994 136058994 single base substitution G T intron_variant BRCA-EU 2 136059773 136059773 single base substitution T A intron_variant BRCA-EU 2 136060776 136060776 insertion of <=200bp - T intron_variant BRCA-EU 2 136061756 136061756 single base substitution G C intron_variant BRCA-EU 2 136062191 136062191 deletion of <=200bp T - intron_variant BRCA-EU 2 136064761 136064761 single base substitution T A intron_variant BRCA-EU 2 136065241 136065241 single base substitution G A intron_variant BRCA-EU 2 136069416 136069416 single base substitution C G intron_variant BRCA-EU 2 136071350 136071350 single base substitution T C intron_variant BRCA-EU 2 136071439 136071439 single base substitution C T intron_variant BRCA-EU 2 136071443 136071443 deletion of <=200bp T - intron_variant BRCA-EU 2 136072700 136072700 deletion of <=200bp T - intron_variant BRCA-EU 2 136073318 136073318 single base substitution A G intron_variant BRCA-EU 2 136073595 136073595 single base substitution C G intron_variant BRCA-EU 2 136074875 136074875 single base substitution T C intron_variant BRCA-EU 2 136075444 136075444 single base substitution G C intron_variant BRCA-EU 2 136076248 136076248 single base substitution A T intron_variant BRCA-EU 2 136078377 136078377 single base substitution C T intron_variant BRCA-EU 2 136078699 136078699 single base substitution T C intron_variant BRCA-EU 2 136079560 136079560 insertion of <=200bp - A intron_variant BRCA-EU 2 136080833 136080833 single base substitution C T intron_variant BRCA-EU 2 136081063 136081063 single base substitution A G intron_variant BRCA-EU 2 136081772 136081772 single base substitution G A intron_variant BRCA-EU 2 136081938 136081938 single base substitution G C intron_variant BRCA-EU 2 136082485 136082485 single base substitution G T intron_variant BRCA-EU 2 136083885 136083885 single base substitution A G intron_variant BRCA-EU 2 136084180 136084180 single base substitution G C intron_variant BRCA-EU 2 136084377 136084377 single base substitution G A intron_variant BRCA-EU 2 136085587 136085587 single base substitution C T intron_variant BRCA-EU 2 136089151 136089151 single base substitution T C intron_variant BRCA-EU 2 136090277 136090277 single base substitution C T intron_variant BRCA-EU 2 136090759 136090759 single base substitution C G intron_variant BRCA-EU 2 136090921 136090921 deletion of <=200bp A - intron_variant BRCA-EU 2 136091718 136091718 single base substitution C G intron_variant BRCA-EU 2 136092155 136092155 single base substitution G C intron_variant BRCA-EU 2 136092663 136092663 single base substitution C G intron_variant BRCA-EU 2 136093065 136093065 single base substitution A G intron_variant BRCA-EU 2 136093787 136093787 single base substitution C A intron_variant BRCA-EU 2 136094449 136094449 single base substitution C T intron_variant BRCA-EU 2 136094496 136094496 insertion of <=200bp - A intron_variant BRCA-EU 2 136096690 136096690 single base substitution A T intron_variant BRCA-EU 2 136096988 136096988 insertion of <=200bp - A intron_variant BRCA-EU 2 136097152 136097152 deletion of <=200bp A - intron_variant BRCA-EU 2 136098757 136098757 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 136098757 136098757 deletion of <=200bp T - intron_variant BRCA-EU 2 136098915 136098915 single base substitution T A downstream_gene_variant BRCA-EU 2 136098915 136098915 single base substitution T A intron_variant BRCA-EU 2 136099630 136099630 single base substitution A T downstream_gene_variant BRCA-EU 2 136099630 136099630 single base substitution A T intron_variant BRCA-EU 2 136099987 136099987 single base substitution C T downstream_gene_variant BRCA-EU 2 136099987 136099987 single base substitution C T intron_variant BRCA-EU 2 136100076 136100076 single base substitution T C downstream_gene_variant BRCA-EU 2 136100076 136100076 single base substitution T C intron_variant BRCA-EU 2 136100186 136100186 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 136100186 136100186 insertion of <=200bp - T intron_variant BRCA-EU 2 136103162 136103162 single base substitution C G exon_variant BRCA-EU 2 136103162 136103162 single base substitution C G missense_variant R212T 635G>C BRCA-EU 2 136103706 136103706 single base substitution G A intron_variant BRCA-EU 2 136103828 136103828 single base substitution G A intron_variant BRCA-EU 2 136104561 136104561 single base substitution C G intron_variant BRCA-EU 2 136104698 136104698 single base substitution C G intron_variant BRCA-EU 2 136105449 136105449 single base substitution C T intron_variant BRCA-EU 2 136106437 136106437 single base substitution T A downstream_gene_variant BRCA-EU 2 136106437 136106437 single base substitution T A intron_variant BRCA-EU 2 136106604 136106604 single base substitution G T downstream_gene_variant BRCA-EU 2 136106604 136106604 single base substitution G T intron_variant BRCA-EU 2 136106685 136106685 single base substitution G T downstream_gene_variant BRCA-EU 2 136106685 136106685 single base substitution G T intron_variant BRCA-EU 2 136107685 136107685 single base substitution C A downstream_gene_variant BRCA-EU 2 136107685 136107685 single base substitution C A exon_variant BRCA-EU 2 136107685 136107685 single base substitution C A missense_variant V154F 460G>T BRCA-EU 2 136107937 136107937 single base substitution T A downstream_gene_variant BRCA-EU 2 136107937 136107937 single base substitution T A intron_variant BRCA-EU 2 136108535 136108535 single base substitution C T downstream_gene_variant BRCA-EU 2 136108535 136108535 single base substitution C T intron_variant BRCA-EU 2 136109063 136109063 single base substitution G A downstream_gene_variant BRCA-EU 2 136109063 136109063 single base substitution G A intron_variant BRCA-EU 2 136109937 136109937 single base substitution A C downstream_gene_variant BRCA-EU 2 136109937 136109937 single base substitution A C intron_variant BRCA-EU 2 136111408 136111408 deletion of <=200bp A - intron_variant BRCA-EU 2 136111408 136111408 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 136112536 136112539 deletion of <=200bp GAAA - intron_variant BRCA-EU 2 136112536 136112539 deletion of <=200bp GAAA - upstream_gene_variant BRCA-EU 2 136112784 136112784 single base substitution G C intron_variant BRCA-EU 2 136112784 136112784 single base substitution G C upstream_gene_variant BRCA-EU 2 136113796 136113796 single base substitution G A intron_variant BRCA-EU 2 136113796 136113796 single base substitution G A upstream_gene_variant BRCA-EU 2 136114161 136114161 single base substitution C T intron_variant BRCA-EU 2 136114161 136114161 single base substitution C T upstream_gene_variant BRCA-EU 2 136115141 136115141 single base substitution C G intron_variant BRCA-EU 2 136115141 136115141 single base substitution C G upstream_gene_variant BRCA-EU 2 136116643 136116643 single base substitution C T intron_variant BRCA-EU 2 136116790 136116790 single base substitution G C intron_variant BRCA-EU 2 136117100 136117100 single base substitution C G intron_variant BRCA-EU 2 136117808 136117808 single base substitution C A intron_variant BRCA-EU 2 136118199 136118199 single base substitution C T intron_variant BRCA-EU 2 136120583 136120583 single base substitution T C intron_variant BRCA-EU 2 136120598 136120598 insertion of <=200bp - A intron_variant BRCA-EU 2 136120691 136120691 single base substitution G C intron_variant BRCA-EU 2 136120863 136120863 single base substitution A C intron_variant BRCA-EU 2 136121099 136121099 insertion of <=200bp - A intron_variant BRCA-EU 2 136121297 136121297 single base substitution C A intron_variant BRCA-EU 2 136122546 136122546 single base substitution A C intron_variant BRCA-EU 2 136123114 136123114 single base substitution C G intron_variant BRCA-EU 2 136123450 136123450 single base substitution G A intron_variant BRCA-EU 2 136124231 136124231 single base substitution A T intron_variant BRCA-EU 2 136124651 136124651 single base substitution C G intron_variant BRCA-EU 2 136129839 136129839 single base substitution T C intron_variant BRCA-EU 2 136131172 136131172 single base substitution A T intron_variant BRCA-EU 2 136131796 136131796 single base substitution C T intron_variant BRCA-EU 2 136133132 136133132 single base substitution G A intron_variant BRCA-EU 2 136133136 136133136 single base substitution T C intron_variant BRCA-EU 2 136133394 136133394 single base substitution C G intron_variant BRCA-EU 2 136133448 136133448 single base substitution T G intron_variant BRCA-EU 2 136134369 136134369 single base substitution C T intron_variant BRCA-EU 2 136134540 136134540 single base substitution A C intron_variant BRCA-EU 2 136134985 136134985 deletion of <=200bp T - intron_variant BRCA-EU 2 136136085 136136085 single base substitution G A intron_variant BRCA-EU 2 136136623 136136623 single base substitution T C intron_variant BRCA-EU 2 136136789 136136789 single base substitution A G intron_variant BRCA-EU 2 136137034 136137034 single base substitution T C intron_variant BRCA-EU 2 136137255 136137255 single base substitution G T intron_variant BRCA-EU 2 136137378 136137378 single base substitution C A intron_variant BRCA-EU 2 136137576 136137576 single base substitution G C intron_variant BRCA-EU 2 136138442 136138442 single base substitution G A intron_variant BRCA-EU 2 136139346 136139346 single base substitution G A intron_variant BRCA-EU 2 136140493 136140493 single base substitution G C intron_variant BRCA-EU 2 136140752 136140752 single base substitution C G intron_variant BRCA-EU 2 136141623 136141623 single base substitution G C intron_variant BRCA-EU 2 136142203 136142203 single base substitution A C intron_variant BRCA-EU 2 136143736 136143736 single base substitution C T intron_variant BRCA-EU 2 136144987 136144987 single base substitution C T intron_variant BRCA-EU 2 136145384 136145384 single base substitution G A intron_variant BRCA-EU 2 136148097 136148097 single base substitution C G intron_variant BRCA-EU 2 136148818 136148818 single base substitution T G intron_variant BRCA-EU 2 136149382 136149382 single base substitution C A intron_variant BRCA-EU 2 136152080 136152080 single base substitution A G intron_variant BRCA-EU 2 136152667 136152667 single base substitution C G intron_variant BRCA-EU 2 136153316 136153316 single base substitution C T intron_variant BRCA-EU 2 136153370 136153370 single base substitution C G intron_variant BRCA-EU 2 136153408 136153408 single base substitution A T intron_variant BRCA-EU 2 136154408 136154408 single base substitution A T intron_variant BRCA-EU 2 136155902 136155902 single base substitution C T intron_variant BRCA-EU 2 136156792 136156792 single base substitution G A intron_variant BRCA-EU 2 136157599 136157599 single base substitution C G intron_variant BRCA-EU 2 136158859 136158859 single base substitution G A intron_variant BRCA-EU 2 136160299 136160299 single base substitution G C intron_variant BRCA-EU 2 136161254 136161254 single base substitution T G intron_variant BRCA-EU 2 136162336 136162336 single base substitution C G intron_variant BRCA-EU 2 136163194 136163194 single base substitution C G intron_variant BRCA-EU 2 136163223 136163223 single base substitution A G intron_variant BRCA-EU 2 136163398 136163398 single base substitution G C intron_variant BRCA-EU 2 136163867 136163867 single base substitution C G intron_variant BRCA-EU 2 136164467 136164467 single base substitution T C intron_variant BRCA-EU 2 136165764 136165764 single base substitution C T intron_variant BRCA-EU 2 136166222 136166222 single base substitution G A intron_variant BRCA-EU 2 136166563 136166563 single base substitution G A intron_variant BRCA-EU 2 136167431 136167431 single base substitution C T intron_variant BRCA-EU 2 136167435 136167435 single base substitution C A intron_variant BRCA-EU 2 136168333 136168333 single base substitution T A intron_variant BRCA-EU 2 136170414 136170414 single base substitution A G intron_variant BRCA-EU 2 136171109 136171109 single base substitution C T intron_variant BRCA-EU 2 136171360 136171360 single base substitution G T intron_variant BRCA-EU 2 136175412 136175412 single base substitution C T intron_variant BRCA-EU 2 136176022 136176022 deletion of <=200bp T - intron_variant BRCA-EU 2 136177026 136177026 insertion of <=200bp - T intron_variant BRCA-EU 2 136178423 136178423 single base substitution T C intron_variant BRCA-EU 2 136178532 136178545 deletion of <=200bp AATTTGGATTAAAA - intron_variant BRCA-EU 2 136178870 136178870 deletion of <=200bp G - intron_variant BRCA-EU 2 136179123 136179123 single base substitution C G intron_variant BRCA-EU 2 136179808 136179808 single base substitution C T intron_variant BRCA-EU 2 136180403 136180403 single base substitution C G intron_variant BRCA-EU 2 136181337 136181337 single base substitution C T intron_variant BRCA-EU 2 136181766 136181766 single base substitution C A intron_variant BRCA-EU 2 136184039 136184039 single base substitution C T intron_variant BRCA-EU 2 136185798 136185798 single base substitution A C intron_variant BRCA-EU 2 136185841 136185841 single base substitution C T intron_variant BRCA-EU 2 136186418 136186418 single base substitution C T intron_variant BRCA-EU 2 136187746 136187746 insertion of <=200bp - A intron_variant BRCA-EU 2 136188256 136188256 single base substitution C G intron_variant BRCA-EU 2 136188887 136188887 deletion of <=200bp A - intron_variant BRCA-EU 2 136189863 136189863 single base substitution A T intron_variant BRCA-EU 2 136191094 136191094 single base substitution C A intron_variant BRCA-EU 2 136191734 136191734 deletion of <=200bp A - intron_variant BRCA-EU 2 136191812 136191812 single base substitution C T intron_variant BRCA-EU 2 136191950 136191950 single base substitution T C intron_variant BRCA-EU 2 136192555 136192555 deletion of <=200bp T - intron_variant BRCA-EU 2 136194885 136194885 single base substitution G T intron_variant BRCA-EU 2 136195407 136195544 deletion of <=200bp TGGGTATGTCTGTGAGGATGTTTCCAGAAAAGATTATCCCTCCAATCAGCAGACTGTGTAAACATCCACTCTCACCAATGTGAGTGGGTACCATCTAATCAGTGGAGAGTGTGAATAGAAAAAAAGGTAGAGGAAGGG - intron_variant BRCA-EU 2 136196914 136196914 deletion of <=200bp A - intron_variant BRCA-EU 2 136198303 136198303 single base substitution T C intron_variant BRCA-EU 2 136199687 136199687 single base substitution T C intron_variant BRCA-EU 2 136200032 136200032 single base substitution T C intron_variant BRCA-EU 2 136201739 136201739 single base substitution G T intron_variant BRCA-EU 2 136203162 136203162 single base substitution C G intron_variant BRCA-EU 2 136203303 136203303 single base substitution G A intron_variant BRCA-EU 2 136203822 136203822 single base substitution G A intron_variant BRCA-EU 2 136204474 136204474 single base substitution T G intron_variant BRCA-EU 2 136205645 136205645 single base substitution G A intron_variant BRCA-EU 2 136205797 136205797 single base substitution T C intron_variant BRCA-EU 2 136206528 136206528 single base substitution C G intron_variant BRCA-EU 2 136208034 136208034 single base substitution C T intron_variant BRCA-EU 2 136208209 136208209 deletion of <=200bp A - intron_variant BRCA-EU 2 136210503 136210503 single base substitution C T intron_variant BRCA-EU 2 136210749 136210749 single base substitution G T intron_variant BRCA-EU 2 136211847 136211847 single base substitution C G intron_variant BRCA-EU 2 136212227 136212227 single base substitution T A intron_variant BRCA-EU 2 136212325 136212325 single base substitution C A intron_variant BRCA-EU 2 136212682 136212682 single base substitution C G intron_variant BRCA-EU 2 136212954 136212954 single base substitution C T intron_variant BRCA-EU 2 136215523 136215523 deletion of <=200bp T - intron_variant BRCA-EU 2 136216275 136216275 single base substitution G C intron_variant BRCA-EU 2 136216327 136216327 single base substitution C T intron_variant BRCA-EU 2 136217081 136217081 single base substitution C G intron_variant BRCA-EU 2 136218752 136218752 single base substitution A G intron_variant BRCA-EU 2 136219217 136219217 single base substitution C T intron_variant BRCA-EU 2 136220039 136220039 single base substitution C T intron_variant BRCA-EU 2 136220206 136220206 single base substitution A G intron_variant BRCA-EU 2 136220312 136220312 single base substitution A G intron_variant BRCA-EU 2 136220760 136220760 single base substitution A G intron_variant BRCA-EU 2 136221986 136221986 single base substitution A G intron_variant BRCA-EU 2 136222638 136222638 single base substitution G A intron_variant BRCA-EU 2 136226058 136226058 single base substitution T C intron_variant BRCA-EU 2 136226406 136226406 single base substitution G T intron_variant BRCA-EU 2 136227706 136227706 single base substitution C T intron_variant BRCA-EU 2 136227881 136227881 single base substitution G A intron_variant BRCA-EU 2 136227922 136227922 single base substitution A C intron_variant BRCA-EU 2 136228698 136228698 single base substitution A C intron_variant BRCA-EU 2 136229935 136229935 single base substitution C T intron_variant BRCA-EU 2 136230459 136230459 single base substitution C T intron_variant BRCA-EU 2 136234136 136234136 single base substitution A G intron_variant BRCA-EU 2 136235236 136235236 deletion of <=200bp T - intron_variant BRCA-EU 2 136236605 136236605 single base substitution T C intron_variant BRCA-EU 2 136237180 136237180 single base substitution G T intron_variant BRCA-EU 2 136237181 136237181 single base substitution A T intron_variant BRCA-EU 2 136237234 136237234 insertion of <=200bp - A intron_variant BRCA-EU 2 136237579 136237579 single base substitution C T intron_variant BRCA-EU 2 136238169 136238169 deletion of <=200bp T - intron_variant BRCA-EU 2 136238396 136238396 single base substitution C T intron_variant BRCA-EU 2 136238988 136238988 single base substitution G C intron_variant BRCA-EU 2 136240302 136240302 single base substitution A G intron_variant BRCA-EU 2 136240405 136240405 single base substitution G A intron_variant BRCA-EU 2 136242226 136242226 single base substitution C G intron_variant BRCA-EU 2 136243201 136243201 single base substitution A T intron_variant BRCA-EU 2 136243266 136243266 single base substitution G A intron_variant BRCA-EU 2 136243846 136243846 single base substitution C T intron_variant BRCA-EU 2 136244425 136244425 single base substitution A G intron_variant BRCA-EU 2 136245992 136245992 single base substitution C A intron_variant BRCA-EU 2 136247832 136247832 single base substitution C G intron_variant BRCA-EU 2 136248434 136248434 single base substitution T C intron_variant BRCA-EU 2 136248740 136248740 single base substitution G A intron_variant BRCA-EU 2 136248816 136248816 single base substitution T C intron_variant BRCA-EU 2 136251343 136251343 single base substitution A C intron_variant BRCA-EU 2 136251416 136251416 single base substitution G A intron_variant BRCA-EU 2 136254525 136254525 single base substitution G A intron_variant BRCA-EU 2 136255009 136255009 single base substitution T A intron_variant BRCA-EU 2 136255108 136255108 single base substitution C G intron_variant BRCA-EU 2 136255421 136255421 single base substitution G A intron_variant BRCA-EU 2 136256706 136256706 single base substitution G C intron_variant BRCA-EU 2 136257664 136257664 single base substitution G C intron_variant BRCA-EU 2 136257919 136257919 single base substitution C T intron_variant BRCA-EU 2 136258521 136258521 single base substitution G A intron_variant BRCA-EU 2 136258994 136258994 single base substitution C G intron_variant BRCA-EU 2 136259864 136259864 single base substitution C T intron_variant BRCA-EU 2 136259938 136259938 single base substitution G C intron_variant BRCA-EU 2 136260117 136260117 single base substitution G C intron_variant BRCA-EU 2 136260915 136260915 single base substitution C T intron_variant BRCA-EU 2 136262464 136262464 single base substitution T C intron_variant BRCA-EU 2 136263968 136263968 single base substitution G C intron_variant BRCA-EU 2 136265478 136265478 single base substitution C A intron_variant BRCA-EU 2 136266009 136266009 single base substitution G T intron_variant BRCA-EU 2 136267088 136267088 single base substitution G T intron_variant BRCA-EU 2 136267914 136267914 single base substitution G T intron_variant BRCA-EU 2 136268918 136268918 single base substitution C T intron_variant BRCA-EU 2 136269047 136269047 single base substitution C T intron_variant BRCA-EU 2 136269441 136269441 single base substitution A G intron_variant BRCA-EU 2 136269830 136269830 single base substitution T C intron_variant BRCA-EU 2 136270022 136270022 single base substitution G T intron_variant BRCA-EU 2 136270258 136270258 deletion of <=200bp T - intron_variant BRCA-EU 2 136270901 136270901 single base substitution C T intron_variant BRCA-EU 2 136273297 136273297 single base substitution G A intron_variant BRCA-EU 2 136273592 136273592 single base substitution C T intron_variant BRCA-EU 2 136273707 136273707 single base substitution T C intron_variant BRCA-EU 2 136274110 136274110 single base substitution G A intron_variant BRCA-EU 2 136274309 136274309 single base substitution A T intron_variant BRCA-EU 2 136274463 136274463 single base substitution T A intron_variant BRCA-EU 2 136275322 136275322 single base substitution G C intron_variant BRCA-EU 2 136275462 136275462 single base substitution G T intron_variant BRCA-EU 2 136276915 136276915 insertion of <=200bp - A intron_variant BRCA-EU 2 136277283 136277283 single base substitution G T intron_variant BRCA-EU 2 136278062 136278062 single base substitution A G intron_variant BRCA-EU 2 136278178 136278178 single base substitution G A intron_variant BRCA-EU 2 136278614 136278614 single base substitution C G intron_variant BRCA-EU 2 136279150 136279150 single base substitution A G intron_variant BRCA-EU 2 136279575 136279575 single base substitution C T intron_variant BRCA-EU 2 136281701 136281701 single base substitution G C intron_variant BRCA-EU 2 136282349 136282349 single base substitution G A intron_variant BRCA-EU 2 136284711 136284711 single base substitution G A intron_variant BRCA-EU 2 136286994 136286994 single base substitution G A intron_variant BRCA-EU 2 136287756 136287756 single base substitution G A intron_variant BRCA-EU 2 136287924 136287924 single base substitution G A intron_variant BRCA-EU 2 136288960 136288960 single base substitution T C upstream_gene_variant BRCA-EU 2 136289013 136289013 single base substitution G C upstream_gene_variant BRCA-EU 2 136289225 136289225 single base substitution C A upstream_gene_variant BRCA-EU 2 136292648 136292648 single base substitution G C upstream_gene_variant BRCA-FR 2 135914796 135914796 single base substitution T C intron_variant BRCA-FR 2 135916233 135916233 single base substitution C G intron_variant BRCA-FR 2 135919488 135919488 single base substitution C T intron_variant BRCA-FR 2 135920007 135920007 single base substitution C T exon_variant BRCA-FR 2 135921139 135921139 single base substitution T G intron_variant BRCA-FR 2 135923828 135923828 single base substitution A T intron_variant BRCA-FR 2 135937081 135937081 single base substitution C T intron_variant BRCA-FR 2 135939168 135939168 single base substitution A G intron_variant BRCA-FR 2 135939431 135939431 single base substitution C T intron_variant BRCA-FR 2 135941107 135941107 single base substitution C T intron_variant BRCA-FR 2 135944156 135944156 single base substitution C G intron_variant BRCA-FR 2 135947855 135947855 single base substitution C G intron_variant BRCA-FR 2 135948141 135948141 single base substitution C G intron_variant BRCA-FR 2 135948376 135948376 single base substitution C T intron_variant BRCA-FR 2 135950088 135950088 single base substitution C T downstream_gene_variant BRCA-FR 2 135950088 135950088 single base substitution C T intron_variant BRCA-FR 2 135958823 135958823 single base substitution T C downstream_gene_variant BRCA-FR 2 135958823 135958823 single base substitution T C intron_variant BRCA-FR 2 135977821 135977821 single base substitution G C downstream_gene_variant BRCA-FR 2 135977821 135977821 single base substitution G C intron_variant BRCA-FR 2 135982555 135982555 single base substitution G C intron_variant BRCA-FR 2 135986915 135986915 single base substitution T A intron_variant BRCA-FR 2 135986915 135986915 single base substitution T A upstream_gene_variant BRCA-FR 2 135995699 135995699 single base substitution C T intron_variant BRCA-FR 2 136001861 136001861 single base substitution C T intron_variant BRCA-FR 2 136004695 136004695 single base substitution C G intron_variant BRCA-FR 2 136004928 136004928 single base substitution G T intron_variant BRCA-FR 2 136009285 136009285 single base substitution C G intron_variant BRCA-FR 2 136019133 136019133 single base substitution T C intron_variant BRCA-FR 2 136020403 136020403 single base substitution A C intron_variant BRCA-FR 2 136025035 136025035 single base substitution G C downstream_gene_variant BRCA-FR 2 136025035 136025035 single base substitution G C intron_variant BRCA-FR 2 136025102 136025102 single base substitution G A downstream_gene_variant BRCA-FR 2 136025102 136025102 single base substitution G A intron_variant BRCA-FR 2 136036729 136036729 single base substitution C T intron_variant BRCA-FR 2 136039344 136039344 single base substitution G T intron_variant BRCA-FR 2 136039348 136039348 single base substitution C G intron_variant BRCA-FR 2 136042751 136042751 single base substitution C T intron_variant BRCA-FR 2 136049614 136049614 single base substitution C T intron_variant BRCA-FR 2 136057940 136057940 single base substitution T A intron_variant BRCA-FR 2 136061756 136061756 single base substitution G C intron_variant BRCA-FR 2 136074521 136074521 single base substitution C T intron_variant BRCA-FR 2 136078377 136078377 single base substitution C T intron_variant BRCA-FR 2 136084180 136084180 single base substitution G C intron_variant BRCA-FR 2 136090759 136090759 single base substitution C G intron_variant BRCA-FR 2 136091718 136091718 single base substitution C G intron_variant BRCA-FR 2 136103773 136103773 single base substitution T C intron_variant BRCA-FR 2 136105449 136105449 single base substitution C T intron_variant BRCA-FR 2 136114161 136114161 single base substitution C T intron_variant BRCA-FR 2 136114161 136114161 single base substitution C T upstream_gene_variant BRCA-FR 2 136116790 136116790 single base substitution G C intron_variant BRCA-FR 2 136118199 136118199 single base substitution C T intron_variant BRCA-FR 2 136120583 136120583 single base substitution T C intron_variant BRCA-FR 2 136123114 136123114 single base substitution C G intron_variant BRCA-FR 2 136133132 136133132 single base substitution G A intron_variant BRCA-FR 2 136137255 136137255 single base substitution G T intron_variant BRCA-FR 2 136139346 136139346 single base substitution G A intron_variant BRCA-FR 2 136143736 136143736 single base substitution C T intron_variant BRCA-FR 2 136146962 136146962 single base substitution C A intron_variant BRCA-FR 2 136152667 136152667 single base substitution C G intron_variant BRCA-FR 2 136153370 136153370 single base substitution C G intron_variant BRCA-FR 2 136153482 136153482 single base substitution C A intron_variant BRCA-FR 2 136163194 136163194 single base substitution C G intron_variant BRCA-FR 2 136164674 136164674 single base substitution G C intron_variant BRCA-FR 2 136164898 136164898 single base substitution C T intron_variant BRCA-FR 2 136164927 136164927 single base substitution T C intron_variant BRCA-FR 2 136165671 136165671 single base substitution C T intron_variant BRCA-FR 2 136167030 136167030 single base substitution C G intron_variant BRCA-FR 2 136167435 136167435 single base substitution C A intron_variant BRCA-FR 2 136168088 136168088 single base substitution C G intron_variant BRCA-FR 2 136168719 136168719 single base substitution A C intron_variant BRCA-FR 2 136170859 136170859 single base substitution C T intron_variant BRCA-FR 2 136179808 136179808 single base substitution C T intron_variant BRCA-FR 2 136188256 136188256 single base substitution C G intron_variant BRCA-FR 2 136191950 136191950 single base substitution T C intron_variant BRCA-FR 2 136195430 136195430 single base substitution C T intron_variant BRCA-FR 2 136201317 136201317 single base substitution G C intron_variant BRCA-FR 2 136208034 136208034 single base substitution C T intron_variant BRCA-FR 2 136212954 136212954 single base substitution C T intron_variant BRCA-FR 2 136215748 136215748 single base substitution A G intron_variant BRCA-FR 2 136222638 136222638 single base substitution G A intron_variant BRCA-FR 2 136226406 136226406 single base substitution G T intron_variant BRCA-FR 2 136229935 136229935 single base substitution C T intron_variant BRCA-FR 2 136243201 136243201 single base substitution A T intron_variant BRCA-FR 2 136243846 136243846 single base substitution C T intron_variant BRCA-FR 2 136251416 136251416 single base substitution G A intron_variant BRCA-FR 2 136255009 136255009 single base substitution T A intron_variant BRCA-FR 2 136255421 136255421 single base substitution G A intron_variant BRCA-FR 2 136256706 136256706 single base substitution G C intron_variant BRCA-FR 2 136257919 136257919 single base substitution C T intron_variant BRCA-FR 2 136263968 136263968 single base substitution G C intron_variant BRCA-FR 2 136267914 136267914 single base substitution G T intron_variant BRCA-FR 2 136269830 136269830 single base substitution T C intron_variant BRCA-FR 2 136274309 136274309 single base substitution A T intron_variant BRCA-FR 2 136284711 136284711 single base substitution G A intron_variant BRCA-FR 2 136287924 136287924 single base substitution G A intron_variant BRCA-FR 2 136288960 136288960 single base substitution T C upstream_gene_variant BRCA-UK 2 135907996 135907996 single base substitution T C intron_variant BRCA-UK 2 135910615 135910615 single base substitution A T intron_variant BRCA-UK 2 135956154 135956154 single base substitution C T 3_prime_UTR_variant BRCA-UK 2 135956154 135956154 single base substitution C T downstream_gene_variant BRCA-UK 2 135956154 135956154 single base substitution C T intron_variant BRCA-UK 2 135978005 135978005 single base substitution C G downstream_gene_variant BRCA-UK 2 135978005 135978005 single base substitution C G intron_variant BRCA-UK 2 135979710 135979710 single base substitution C G downstream_gene_variant BRCA-UK 2 135979710 135979710 single base substitution C G intron_variant BRCA-UK 2 136032863 136032863 single base substitution G A intron_variant BRCA-UK 2 136036897 136036897 single base substitution G A intron_variant BRCA-UK 2 136059773 136059773 single base substitution T A intron_variant BRCA-UK 2 136073595 136073595 single base substitution C G intron_variant BRCA-UK 2 136107685 136107685 single base substitution C A downstream_gene_variant BRCA-UK 2 136107685 136107685 single base substitution C A exon_variant BRCA-UK 2 136107685 136107685 single base substitution C A missense_variant V154F 460G>T BRCA-UK 2 136129839 136129839 single base substitution T C intron_variant BRCA-UK 2 136150842 136150842 single base substitution G A intron_variant BRCA-UK 2 136172749 136172749 single base substitution G A intron_variant BRCA-UK 2 136176031 136176031 insertion of <=200bp - T intron_variant BRCA-UK 2 136220312 136220312 single base substitution A G intron_variant BRCA-UK 2 136241532 136241532 single base substitution C A intron_variant BRCA-UK 2 136285140 136285140 single base substitution G A intron_variant BRCA-US 2 135911344 135911344 single base substitution G A intron_variant BRCA-US 2 135957918 135957918 single base substitution C A 3_prime_UTR_variant BRCA-US 2 135957918 135957918 single base substitution C A downstream_gene_variant BRCA-US 2 135957918 135957918 single base substitution C A missense_variant K1076N 3228G>T BRCA-US 2 135957918 135957918 single base substitution C A missense_variant K1078N 3234G>T BRCA-US 2 135957918 135957918 single base substitution C A splice_region_variant BRCA-US 2 135957946 135957946 single base substitution C A 3_prime_UTR_variant BRCA-US 2 135957946 135957946 single base substitution C A downstream_gene_variant BRCA-US 2 135957946 135957946 single base substitution C A exon_variant BRCA-US 2 135957946 135957946 single base substitution C A missense_variant G1067V 3200G>T BRCA-US 2 135957946 135957946 single base substitution C A missense_variant G1069V 3206G>T BRCA-US 2 135965152 135965152 single base substitution C T 3_prime_UTR_variant BRCA-US 2 135965152 135965152 single base substitution C T exon_variant BRCA-US 2 135965152 135965152 single base substitution C T missense_variant R952K 2855G>A BRCA-US 2 135965152 135965152 single base substitution C T missense_variant R954K 2861G>A BRCA-US 2 135965152 135965152 single base substitution C T upstream_gene_variant BRCA-US 2 135965355 135965355 single base substitution G A 3_prime_UTR_variant BRCA-US 2 135965355 135965355 single base substitution G A exon_variant BRCA-US 2 135965355 135965355 single base substitution G A synonymous_variant V884V 2652C>T BRCA-US 2 135965355 135965355 single base substitution G A synonymous_variant V886V 2658C>T BRCA-US 2 135965355 135965355 single base substitution G A upstream_gene_variant BRCA-US 2 135966549 135966549 single base substitution C A splice_acceptor_variant BRCA-US 2 135966549 135966549 single base substitution C A upstream_gene_variant BRCA-US 2 135985408 135985410 deletion of <=200bp TCT - 3_prime_UTR_variant BRCA-US 2 135985408 135985410 deletion of <=200bp TCT - disruptive_inframe_deletion ED710D BRCA-US 2 135985408 135985410 deletion of <=200bp TCT - exon_variant BRCA-US 2 135988317 135988317 single base substitution C T 3_prime_UTR_variant BRCA-US 2 135988317 135988317 single base substitution C T exon_variant BRCA-US 2 135988317 135988317 single base substitution C T missense_variant E574K 1720G>A BRCA-US 2 135988317 135988317 single base substitution C T upstream_gene_variant BRCA-US 2 135988439 135988439 single base substitution C A 3_prime_UTR_variant BRCA-US 2 135988439 135988439 single base substitution C A exon_variant BRCA-US 2 135988439 135988439 single base substitution C A missense_variant R533I 1598G>T BRCA-US 2 135988439 135988439 single base substitution C A upstream_gene_variant BRCA-US 2 136023137 136023137 single base substitution A C 3_prime_UTR_variant BRCA-US 2 136023137 136023137 single base substitution A C downstream_gene_variant BRCA-US 2 136023137 136023137 single base substitution A C synonymous_variant S502S 1506T>G BRCA-US 2 136103162 136103162 single base substitution C T exon_variant BRCA-US 2 136103162 136103162 single base substitution C T missense_variant R212K 635G>A BTCA-JP 2 135907866 135907866 single base substitution T G intron_variant BTCA-JP 2 135982151 135982151 single base substitution T C intron_variant BTCA-JP 2 135988401 135988401 single base substitution G A 3_prime_UTR_variant BTCA-JP 2 135988401 135988401 single base substitution G A exon_variant BTCA-JP 2 135988401 135988401 single base substitution G A missense_variant R546W 1636C>T BTCA-JP 2 135988401 135988401 single base substitution G A upstream_gene_variant BTCA-JP 2 136148180 136148180 insertion of <=200bp - AC intron_variant BTCA-JP 2 136148180 136148181 deletion of <=200bp AC - intron_variant BTCA-JP 2 136261917 136261917 single base substitution G T exon_variant BTCA-JP 2 136261917 136261917 single base substitution G T intron_variant BTCA-JP 2 136261917 136261917 single base substitution G T missense_variant A48D 143C>A CESC-US 2 135891462 135891462 single base substitution C T downstream_gene_variant CESC-US 2 136071135 136071135 single base substitution C T exon_variant CESC-US 2 136071135 136071135 single base substitution C T missense_variant R297K 890G>A CLLE-ES 2 135913535 135913535 single base substitution A T intron_variant CLLE-ES 2 135956838 135956838 single base substitution T G 3_prime_UTR_variant CLLE-ES 2 135956838 135956838 single base substitution T G downstream_gene_variant CLLE-ES 2 135956838 135956838 single base substitution T G intron_variant CLLE-ES 2 135965943 135965943 single base substitution C G intron_variant CLLE-ES 2 135965943 135965943 single base substitution C G upstream_gene_variant CLLE-ES 2 136000271 136000271 single base substitution G A intron_variant CLLE-ES 2 136000271 136000271 single base substitution G A upstream_gene_variant CLLE-ES 2 136044280 136044280 single base substitution C T intron_variant CLLE-ES 2 136045368 136045368 single base substitution T A intron_variant CLLE-ES 2 136054123 136054123 single base substitution A G intron_variant CLLE-ES 2 136069301 136069301 single base substitution C A intron_variant CLLE-ES 2 136074551 136074551 single base substitution A T intron_variant CLLE-ES 2 136160587 136160587 single base substitution C T intron_variant CLLE-ES 2 136168511 136168511 single base substitution A C intron_variant CLLE-ES 2 136169469 136169469 single base substitution C T intron_variant CLLE-ES 2 136170959 136170959 single base substitution G T intron_variant CLLE-ES 2 136187749 136187749 single base substitution A C intron_variant CLLE-ES 2 136192564 136192564 single base substitution A T intron_variant CLLE-ES 2 136205516 136205516 single base substitution T C intron_variant CLLE-ES 2 136207962 136207962 single base substitution C A intron_variant CLLE-ES 2 136209825 136209825 single base substitution G T intron_variant CLLE-ES 2 136210471 136210471 single base substitution C G intron_variant CLLE-ES 2 136211262 136211262 single base substitution C T intron_variant CLLE-ES 2 136249758 136249758 single base substitution G A intron_variant CLLE-ES 2 136254159 136254159 single base substitution C T intron_variant CLLE-ES 2 136282540 136282540 single base substitution G T intron_variant COAD-US 2 135890476 135890476 single base substitution T G downstream_gene_variant COAD-US 2 135920378 135920378 single base substitution G A intron_variant COAD-US 2 135957926 135957926 single base substitution A G 3_prime_UTR_variant COAD-US 2 135957926 135957926 single base substitution A G downstream_gene_variant COAD-US 2 135957926 135957926 single base substitution A G splice_region_variant COAD-US 2 135957926 135957926 single base substitution A G synonymous_variant L1074L 3220T>C COAD-US 2 135957926 135957926 single base substitution A G synonymous_variant L1076L 3226T>C COAD-US 2 135957954 135957954 single base substitution T C 3_prime_UTR_variant COAD-US 2 135957954 135957954 single base substitution T C downstream_gene_variant COAD-US 2 135957954 135957954 single base substitution T C exon_variant COAD-US 2 135957954 135957954 single base substitution T C synonymous_variant S1064S 3192A>G COAD-US 2 135957954 135957954 single base substitution T C synonymous_variant S1066S 3198A>G COAD-US 2 135965086 135965086 single base substitution A C 3_prime_UTR_variant COAD-US 2 135965086 135965086 single base substitution A C exon_variant COAD-US 2 135965086 135965086 single base substitution A C missense_variant F974C 2921T>G COAD-US 2 135965086 135965086 single base substitution A C missense_variant F976C 2927T>G COAD-US 2 135965174 135965174 single base substitution G A 3_prime_UTR_variant COAD-US 2 135965174 135965174 single base substitution G A exon_variant COAD-US 2 135965174 135965174 single base substitution G A stop_gained R945* 2833C>T COAD-US 2 135965174 135965174 single base substitution G A stop_gained R947* 2839C>T COAD-US 2 135965174 135965174 single base substitution G A upstream_gene_variant COAD-US 2 135985447 135985447 single base substitution G A 3_prime_UTR_variant COAD-US 2 135985447 135985447 single base substitution G A exon_variant COAD-US 2 135985447 135985447 single base substitution G A missense_variant A698V 2093C>T COAD-US 2 135988440 135988440 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 2 135988440 135988440 deletion of <=200bp T - exon_variant COAD-US 2 135988440 135988440 deletion of <=200bp T - frameshift_variant R533 COAD-US 2 135988440 135988440 deletion of <=200bp T - upstream_gene_variant COAD-US 2 136023119 136023119 single base substitution T G 3_prime_UTR_variant COAD-US 2 136023119 136023119 single base substitution T G downstream_gene_variant COAD-US 2 136023119 136023119 single base substitution T G missense_variant E508D 1524A>C COAD-US 2 136073101 136073101 single base substitution C T splice_acceptor_variant COCA-CN 2 135891636 135891636 single base substitution G A downstream_gene_variant COCA-CN 2 135892786 135892786 single base substitution G A downstream_gene_variant COCA-CN 2 135892904 135892904 single base substitution A G downstream_gene_variant COCA-CN 2 135893012 135893012 single base substitution T C downstream_gene_variant COCA-CN 2 135907846 135907846 single base substitution T C intron_variant COCA-CN 2 135908070 135908071 deletion of <=200bp TT - intron_variant COCA-CN 2 135911423 135911423 single base substitution G A intron_variant COCA-CN 2 135926086 135926086 single base substitution T G intron_variant COCA-CN 2 135960518 135960518 single base substitution T G 3_prime_UTR_variant COCA-CN 2 135960518 135960518 single base substitution T G exon_variant COCA-CN 2 135960518 135960518 single base substitution T G synonymous_variant R1007R 3019A>C COCA-CN 2 135960518 135960518 single base substitution T G synonymous_variant R1009R 3025A>C COCA-CN 2 135960553 135960553 single base substitution T A intron_variant COCA-CN 2 135965100 135965100 single base substitution G A 3_prime_UTR_variant COCA-CN 2 135965100 135965100 single base substitution G A exon_variant COCA-CN 2 135965100 135965100 single base substitution G A synonymous_variant N969N 2907C>T COCA-CN 2 135965100 135965100 single base substitution G A synonymous_variant N971N 2913C>T COCA-CN 2 135965100 135965100 single base substitution G A upstream_gene_variant COCA-CN 2 135965222 135965222 single base substitution A T 3_prime_UTR_variant COCA-CN 2 135965222 135965222 single base substitution A T exon_variant COCA-CN 2 135965222 135965222 single base substitution A T missense_variant W929R 2785T>A COCA-CN 2 135965222 135965222 single base substitution A T missense_variant W931R 2791T>A COCA-CN 2 135965222 135965222 single base substitution A T upstream_gene_variant COCA-CN 2 135965399 135965399 single base substitution G T 3_prime_UTR_variant COCA-CN 2 135965399 135965399 single base substitution G T exon_variant COCA-CN 2 135965399 135965399 single base substitution G T missense_variant L870I 2608C>A COCA-CN 2 135965399 135965399 single base substitution G T missense_variant L872I 2614C>A COCA-CN 2 135965399 135965399 single base substitution G T upstream_gene_variant COCA-CN 2 135985447 135985447 single base substitution G A 3_prime_UTR_variant COCA-CN 2 135985447 135985447 single base substitution G A exon_variant COCA-CN 2 135985447 135985447 single base substitution G A missense_variant A698V 2093C>T COCA-CN 2 135988326 135988326 single base substitution C T 3_prime_UTR_variant COCA-CN 2 135988326 135988326 single base substitution C T exon_variant COCA-CN 2 135988326 135988326 single base substitution C T missense_variant V571I 1711G>A COCA-CN 2 135988326 135988326 single base substitution C T upstream_gene_variant COCA-CN 2 135988401 135988401 single base substitution G A 3_prime_UTR_variant COCA-CN 2 135988401 135988401 single base substitution G A exon_variant COCA-CN 2 135988401 135988401 single base substitution G A missense_variant R546W 1636C>T COCA-CN 2 135988401 135988401 single base substitution G A upstream_gene_variant COCA-CN 2 136026733 136026733 single base substitution A C intron_variant COCA-CN 2 136028859 136028859 single base substitution C A intron_variant COCA-CN 2 136070955 136070955 single base substitution C A intron_variant COCA-CN 2 136070979 136070979 single base substitution T A intron_variant COCA-CN 2 136070986 136070986 single base substitution C A intron_variant COCA-CN 2 136088918 136088918 single base substitution C T intron_variant COCA-CN 2 136107532 136107532 single base substitution C T downstream_gene_variant COCA-CN 2 136107532 136107532 single base substitution C T intron_variant COCA-CN 2 136111180 136111180 single base substitution T G exon_variant COCA-CN 2 136111180 136111180 single base substitution T G missense_variant I67L 199A>C COCA-CN 2 136148167 136148167 single base substitution G A intron_variant COCA-CN 2 136262011 136262011 single base substitution A G exon_variant COCA-CN 2 136262011 136262011 single base substitution A G intron_variant COCA-CN 2 136262011 136262011 single base substitution A G missense_variant C17R 49T>C COCA-CN 2 136268560 136268560 single base substitution G A intron_variant COCA-CN 2 136268590 136268590 single base substitution C A intron_variant EOPC-DE 2 135926463 135926463 single base substitution G T intron_variant EOPC-DE 2 135938689 135938689 single base substitution G T intron_variant EOPC-DE 2 135981989 135981989 single base substitution C T downstream_gene_variant EOPC-DE 2 135981989 135981989 single base substitution C T splice_region_variant EOPC-DE 2 136022314 136022314 single base substitution T C downstream_gene_variant EOPC-DE 2 136022314 136022314 single base substitution T C intron_variant EOPC-DE 2 136031535 136031535 single base substitution A T intron_variant EOPC-DE 2 136040834 136040834 single base substitution G A intron_variant EOPC-DE 2 136042321 136042321 single base substitution G A intron_variant EOPC-DE 2 136063178 136063178 single base substitution G T intron_variant EOPC-DE 2 136082412 136082412 single base substitution G C intron_variant EOPC-DE 2 136131133 136131133 single base substitution G A intron_variant EOPC-DE 2 136132984 136132984 single base substitution G A intron_variant EOPC-DE 2 136218668 136218668 single base substitution G A intron_variant EOPC-DE 2 136230147 136230147 single base substitution G C intron_variant ESAD-UK 2 135889657 135889657 single base substitution T G downstream_gene_variant ESAD-UK 2 135890139 135890139 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 135890267 135890267 single base substitution A G downstream_gene_variant ESAD-UK 2 135891034 135891034 single base substitution G C downstream_gene_variant ESAD-UK 2 135893484 135893484 single base substitution C G downstream_gene_variant ESAD-UK 2 135894301 135894301 single base substitution T C downstream_gene_variant ESAD-UK 2 135898992 135898992 single base substitution C T intron_variant ESAD-UK 2 135899656 135899656 single base substitution C G intron_variant ESAD-UK 2 135899892 135899892 single base substitution C A intron_variant ESAD-UK 2 135901874 135901874 single base substitution G A intron_variant ESAD-UK 2 135902175 135902175 single base substitution C G intron_variant ESAD-UK 2 135902707 135902707 single base substitution A G intron_variant ESAD-UK 2 135903004 135903004 single base substitution C G intron_variant ESAD-UK 2 135903717 135903717 single base substitution T C intron_variant ESAD-UK 2 135903849 135903849 single base substitution T C intron_variant ESAD-UK 2 135905933 135905933 single base substitution T G intron_variant ESAD-UK 2 135906125 135906125 single base substitution C T intron_variant ESAD-UK 2 135906373 135906373 single base substitution C T intron_variant ESAD-UK 2 135907282 135907282 single base substitution G A intron_variant ESAD-UK 2 135907616 135907616 single base substitution C T intron_variant ESAD-UK 2 135907786 135907786 single base substitution A T intron_variant ESAD-UK 2 135908533 135908533 single base substitution A G intron_variant ESAD-UK 2 135909143 135909143 single base substitution A G intron_variant ESAD-UK 2 135909363 135909363 single base substitution C G intron_variant ESAD-UK 2 135911938 135911938 single base substitution T G intron_variant ESAD-UK 2 135913817 135913817 single base substitution T G intron_variant ESAD-UK 2 135915300 135915300 single base substitution G C intron_variant ESAD-UK 2 135915947 135915947 deletion of <=200bp A - intron_variant ESAD-UK 2 135919290 135919290 single base substitution A T intron_variant ESAD-UK 2 135919304 135919304 single base substitution C T intron_variant ESAD-UK 2 135920047 135920047 single base substitution G A exon_variant ESAD-UK 2 135920202 135920202 single base substitution A G splice_region_variant ESAD-UK 2 135920776 135920776 single base substitution T C intron_variant ESAD-UK 2 135923665 135923665 single base substitution C T intron_variant ESAD-UK 2 135924173 135924173 single base substitution C G intron_variant ESAD-UK 2 135924801 135924801 single base substitution G A intron_variant ESAD-UK 2 135925832 135925832 single base substitution T C intron_variant ESAD-UK 2 135926072 135926072 single base substitution G C intron_variant ESAD-UK 2 135928893 135928893 single base substitution G T intron_variant ESAD-UK 2 135929449 135929449 single base substitution A G intron_variant ESAD-UK 2 135931230 135931230 single base substitution C A intron_variant ESAD-UK 2 135933389 135933389 single base substitution T C intron_variant ESAD-UK 2 135937077 135937077 single base substitution A C intron_variant ESAD-UK 2 135937250 135937250 single base substitution C T intron_variant ESAD-UK 2 135937709 135937709 single base substitution C T intron_variant ESAD-UK 2 135938117 135938117 single base substitution C G intron_variant ESAD-UK 2 135938418 135938418 single base substitution T A intron_variant ESAD-UK 2 135939541 135939541 single base substitution T C intron_variant ESAD-UK 2 135940162 135940162 single base substitution C T intron_variant ESAD-UK 2 135942627 135942627 single base substitution A T intron_variant ESAD-UK 2 135943240 135943240 insertion of <=200bp - T intron_variant ESAD-UK 2 135943436 135943436 single base substitution G A intron_variant ESAD-UK 2 135943742 135943742 single base substitution G T intron_variant ESAD-UK 2 135946641 135946641 insertion of <=200bp - AAAT intron_variant ESAD-UK 2 135946669 135946669 single base substitution T A intron_variant ESAD-UK 2 135952405 135952405 single base substitution C T downstream_gene_variant ESAD-UK 2 135952405 135952405 single base substitution C T intron_variant ESAD-UK 2 135953081 135953081 single base substitution C T downstream_gene_variant ESAD-UK 2 135953081 135953081 single base substitution C T intron_variant ESAD-UK 2 135953947 135953947 insertion of <=200bp - TTTCT downstream_gene_variant ESAD-UK 2 135953947 135953947 insertion of <=200bp - TTTCT intron_variant ESAD-UK 2 135954193 135954193 single base substitution A T downstream_gene_variant ESAD-UK 2 135954193 135954193 single base substitution A T intron_variant ESAD-UK 2 135955285 135955285 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 135955285 135955285 single base substitution C T downstream_gene_variant ESAD-UK 2 135955285 135955285 single base substitution C T intron_variant ESAD-UK 2 135956442 135956442 single base substitution T C 3_prime_UTR_variant ESAD-UK 2 135956442 135956442 single base substitution T C downstream_gene_variant ESAD-UK 2 135956442 135956442 single base substitution T C intron_variant ESAD-UK 2 135957027 135957027 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 135957027 135957027 single base substitution C T downstream_gene_variant ESAD-UK 2 135957027 135957027 single base substitution C T intron_variant ESAD-UK 2 135958057 135958057 single base substitution C T downstream_gene_variant ESAD-UK 2 135958057 135958057 single base substitution C T intron_variant ESAD-UK 2 135958454 135958454 single base substitution T A downstream_gene_variant ESAD-UK 2 135958454 135958454 single base substitution T A intron_variant ESAD-UK 2 135959901 135959901 single base substitution T C downstream_gene_variant ESAD-UK 2 135959901 135959901 single base substitution T C intron_variant ESAD-UK 2 135963168 135963168 single base substitution G A intron_variant ESAD-UK 2 135965397 135965399 deletion of <=200bp AAG - 3_prime_UTR_variant ESAD-UK 2 135965397 135965399 deletion of <=200bp AAG - exon_variant ESAD-UK 2 135965397 135965399 deletion of <=200bp AAG - inframe_deletion L870 ESAD-UK 2 135965397 135965399 deletion of <=200bp AAG - inframe_deletion L872 ESAD-UK 2 135965397 135965399 deletion of <=200bp AAG - upstream_gene_variant ESAD-UK 2 135965401 135965401 single base substitution A C 3_prime_UTR_variant ESAD-UK 2 135965401 135965401 single base substitution A C exon_variant ESAD-UK 2 135965401 135965401 single base substitution A C missense_variant L869R 2606T>G ESAD-UK 2 135965401 135965401 single base substitution A C missense_variant L871R 2612T>G ESAD-UK 2 135965401 135965401 single base substitution A C upstream_gene_variant ESAD-UK 2 135966839 135966839 single base substitution G A intron_variant ESAD-UK 2 135966839 135966839 single base substitution G A upstream_gene_variant ESAD-UK 2 135967347 135967347 single base substitution C T intron_variant ESAD-UK 2 135967347 135967347 single base substitution C T upstream_gene_variant ESAD-UK 2 135968370 135968370 single base substitution G A intron_variant ESAD-UK 2 135968370 135968370 single base substitution G A upstream_gene_variant ESAD-UK 2 135970919 135970919 single base substitution A C intron_variant ESAD-UK 2 135971123 135971124 deletion of <=200bp CT - intron_variant ESAD-UK 2 135971833 135971833 single base substitution T G intron_variant ESAD-UK 2 135975503 135975503 single base substitution C T intron_variant ESAD-UK 2 135976198 135976198 single base substitution T G intron_variant ESAD-UK 2 135976307 135976307 single base substitution G A intron_variant ESAD-UK 2 135977265 135977265 single base substitution C T downstream_gene_variant ESAD-UK 2 135977265 135977265 single base substitution C T intron_variant ESAD-UK 2 135978695 135978695 single base substitution G A downstream_gene_variant ESAD-UK 2 135978695 135978695 single base substitution G A intron_variant ESAD-UK 2 135980579 135980579 single base substitution T G downstream_gene_variant ESAD-UK 2 135980579 135980579 single base substitution T G intron_variant ESAD-UK 2 135981332 135981332 single base substitution A C downstream_gene_variant ESAD-UK 2 135981332 135981332 single base substitution A C intron_variant ESAD-UK 2 135982157 135982182 deletion of <=200bp TGTGTAGGTTAGAACGATGAAATAGC - intron_variant ESAD-UK 2 135984964 135984964 single base substitution G T intron_variant ESAD-UK 2 135988906 135988906 deletion of <=200bp A - intron_variant ESAD-UK 2 135988906 135988906 deletion of <=200bp A - upstream_gene_variant ESAD-UK 2 135989365 135989365 insertion of <=200bp - C intron_variant ESAD-UK 2 135989365 135989365 insertion of <=200bp - C upstream_gene_variant ESAD-UK 2 135990784 135990784 single base substitution G T intron_variant ESAD-UK 2 135990784 135990784 single base substitution G T upstream_gene_variant ESAD-UK 2 135997481 135997481 single base substitution G A intron_variant ESAD-UK 2 135997481 135997481 single base substitution G A upstream_gene_variant ESAD-UK 2 135997907 135997907 single base substitution A G intron_variant ESAD-UK 2 135997907 135997907 single base substitution A G upstream_gene_variant ESAD-UK 2 135998003 135998003 single base substitution G A intron_variant ESAD-UK 2 135998003 135998003 single base substitution G A upstream_gene_variant ESAD-UK 2 135998381 135998381 single base substitution T G intron_variant ESAD-UK 2 135998381 135998381 single base substitution T G upstream_gene_variant ESAD-UK 2 136000653 136000653 single base substitution A G intron_variant ESAD-UK 2 136000653 136000653 single base substitution A G upstream_gene_variant ESAD-UK 2 136000941 136000941 single base substitution G A intron_variant ESAD-UK 2 136000941 136000941 single base substitution G A upstream_gene_variant ESAD-UK 2 136001765 136001765 single base substitution T C intron_variant ESAD-UK 2 136001819 136001819 single base substitution C T intron_variant ESAD-UK 2 136004075 136004075 deletion of <=200bp A - intron_variant ESAD-UK 2 136004928 136004928 single base substitution G T intron_variant ESAD-UK 2 136005579 136005579 single base substitution G T intron_variant ESAD-UK 2 136006475 136006475 insertion of <=200bp - CAA intron_variant ESAD-UK 2 136006493 136006493 insertion of <=200bp - C intron_variant ESAD-UK 2 136006642 136006642 single base substitution T A intron_variant ESAD-UK 2 136008385 136008385 single base substitution C T intron_variant ESAD-UK 2 136011612 136011612 single base substitution A T intron_variant ESAD-UK 2 136012018 136012018 single base substitution T A intron_variant ESAD-UK 2 136012430 136012430 single base substitution C A intron_variant ESAD-UK 2 136014084 136014084 single base substitution G C intron_variant ESAD-UK 2 136016264 136016264 single base substitution T C intron_variant ESAD-UK 2 136020663 136020663 single base substitution C G intron_variant ESAD-UK 2 136020862 136020862 single base substitution T A intron_variant ESAD-UK 2 136021227 136021227 insertion of <=200bp - T intron_variant ESAD-UK 2 136021550 136021550 single base substitution G A intron_variant ESAD-UK 2 136024249 136024249 single base substitution C T downstream_gene_variant ESAD-UK 2 136024249 136024249 single base substitution C T intron_variant ESAD-UK 2 136024313 136024313 single base substitution C T downstream_gene_variant ESAD-UK 2 136024313 136024313 single base substitution C T intron_variant ESAD-UK 2 136025275 136025275 single base substitution T G downstream_gene_variant ESAD-UK 2 136025275 136025275 single base substitution T G intron_variant ESAD-UK 2 136025380 136025380 deletion of <=200bp C - downstream_gene_variant ESAD-UK 2 136025380 136025380 deletion of <=200bp C - intron_variant ESAD-UK 2 136026168 136026168 single base substitution G A downstream_gene_variant ESAD-UK 2 136026168 136026168 single base substitution G A intron_variant ESAD-UK 2 136026587 136026587 single base substitution T A 3_prime_UTR_variant ESAD-UK 2 136026587 136026587 single base substitution T A downstream_gene_variant ESAD-UK 2 136026587 136026587 single base substitution T A missense_variant Y444F 1331A>T ESAD-UK 2 136027287 136027287 single base substitution T G intron_variant ESAD-UK 2 136028812 136028812 single base substitution T A intron_variant ESAD-UK 2 136030674 136030674 single base substitution T G intron_variant ESAD-UK 2 136031869 136031869 single base substitution C T intron_variant ESAD-UK 2 136033251 136033251 single base substitution A G exon_variant ESAD-UK 2 136033251 136033251 single base substitution A G synonymous_variant H347H 1041T>C ESAD-UK 2 136034182 136034182 deletion of <=200bp T - intron_variant ESAD-UK 2 136035836 136035836 single base substitution A C intron_variant ESAD-UK 2 136036875 136036875 single base substitution T A intron_variant ESAD-UK 2 136037547 136037547 single base substitution C A intron_variant ESAD-UK 2 136039349 136039349 single base substitution A G intron_variant ESAD-UK 2 136039713 136039713 single base substitution T G intron_variant ESAD-UK 2 136040247 136040247 single base substitution C G intron_variant ESAD-UK 2 136041765 136041765 single base substitution A T intron_variant ESAD-UK 2 136042851 136042851 single base substitution C T intron_variant ESAD-UK 2 136042916 136042916 single base substitution T G intron_variant ESAD-UK 2 136043129 136043129 single base substitution C T intron_variant ESAD-UK 2 136043404 136043404 insertion of <=200bp - T intron_variant ESAD-UK 2 136045525 136045525 single base substitution G T intron_variant ESAD-UK 2 136048495 136048495 single base substitution A T intron_variant ESAD-UK 2 136048968 136048968 single base substitution G C intron_variant ESAD-UK 2 136049355 136049355 single base substitution C A intron_variant ESAD-UK 2 136052633 136052633 single base substitution T C intron_variant ESAD-UK 2 136052693 136052693 single base substitution C T intron_variant ESAD-UK 2 136054180 136054180 single base substitution C T intron_variant ESAD-UK 2 136054969 136054969 single base substitution G C intron_variant ESAD-UK 2 136055536 136055536 single base substitution C T intron_variant ESAD-UK 2 136060558 136060558 single base substitution T A intron_variant ESAD-UK 2 136060619 136060619 single base substitution A G intron_variant ESAD-UK 2 136062171 136062171 single base substitution A T intron_variant ESAD-UK 2 136063793 136063793 single base substitution G A intron_variant ESAD-UK 2 136063956 136063956 single base substitution C T intron_variant ESAD-UK 2 136064226 136064226 single base substitution T A intron_variant ESAD-UK 2 136065751 136065751 single base substitution C T intron_variant ESAD-UK 2 136067700 136067700 deletion of <=200bp T - intron_variant ESAD-UK 2 136068407 136068407 single base substitution T G intron_variant ESAD-UK 2 136068972 136068972 deletion of <=200bp T - intron_variant ESAD-UK 2 136070977 136070977 single base substitution A T intron_variant ESAD-UK 2 136071934 136071934 single base substitution T A intron_variant ESAD-UK 2 136073646 136073646 single base substitution C G intron_variant ESAD-UK 2 136073689 136073689 single base substitution G T intron_variant ESAD-UK 2 136074183 136074183 single base substitution C T intron_variant ESAD-UK 2 136075126 136075126 single base substitution T G intron_variant ESAD-UK 2 136077418 136077418 single base substitution A G intron_variant ESAD-UK 2 136078345 136078345 single base substitution C T intron_variant ESAD-UK 2 136079340 136079340 single base substitution T G intron_variant ESAD-UK 2 136080887 136080887 single base substitution A T intron_variant ESAD-UK 2 136080986 136081000 deletion of <=200bp AGGAGGATACATTGA - intron_variant ESAD-UK 2 136081451 136081451 single base substitution T C intron_variant ESAD-UK 2 136082188 136082188 single base substitution A G intron_variant ESAD-UK 2 136082988 136082988 single base substitution T A intron_variant ESAD-UK 2 136083511 136083511 single base substitution A C intron_variant ESAD-UK 2 136083756 136083756 deletion of <=200bp T - intron_variant ESAD-UK 2 136083909 136083909 single base substitution G A intron_variant ESAD-UK 2 136084039 136084039 insertion of <=200bp - T intron_variant ESAD-UK 2 136085237 136085237 single base substitution T A intron_variant ESAD-UK 2 136086958 136086958 single base substitution T C intron_variant ESAD-UK 2 136087139 136087139 single base substitution A C intron_variant ESAD-UK 2 136087196 136087196 single base substitution T G intron_variant ESAD-UK 2 136087938 136087938 single base substitution G A intron_variant ESAD-UK 2 136089381 136089381 single base substitution T A intron_variant ESAD-UK 2 136089825 136089825 single base substitution C T intron_variant ESAD-UK 2 136091182 136091182 single base substitution T G intron_variant ESAD-UK 2 136092443 136092443 single base substitution C T intron_variant ESAD-UK 2 136092576 136092576 single base substitution G T intron_variant ESAD-UK 2 136092662 136092662 single base substitution T G intron_variant ESAD-UK 2 136093347 136093347 single base substitution T G intron_variant ESAD-UK 2 136093468 136093468 single base substitution A G intron_variant ESAD-UK 2 136095749 136095749 deletion of <=200bp A - intron_variant ESAD-UK 2 136096742 136096742 single base substitution G A intron_variant ESAD-UK 2 136096840 136096840 single base substitution G T intron_variant ESAD-UK 2 136096905 136096905 single base substitution C T intron_variant ESAD-UK 2 136096977 136096977 single base substitution A C intron_variant ESAD-UK 2 136096988 136096988 insertion of <=200bp - A intron_variant ESAD-UK 2 136097974 136097974 insertion of <=200bp - C downstream_gene_variant ESAD-UK 2 136097974 136097974 insertion of <=200bp - C intron_variant ESAD-UK 2 136097979 136097979 deletion of <=200bp T - downstream_gene_variant ESAD-UK 2 136097979 136097979 deletion of <=200bp T - intron_variant ESAD-UK 2 136098010 136098010 single base substitution C T downstream_gene_variant ESAD-UK 2 136098010 136098010 single base substitution C T intron_variant ESAD-UK 2 136098172 136098172 single base substitution T A downstream_gene_variant ESAD-UK 2 136098172 136098172 single base substitution T A intron_variant ESAD-UK 2 136098181 136098181 single base substitution T C downstream_gene_variant ESAD-UK 2 136098181 136098181 single base substitution T C intron_variant ESAD-UK 2 136103667 136103667 single base substitution G T intron_variant ESAD-UK 2 136104101 136104101 single base substitution C A intron_variant ESAD-UK 2 136105122 136105122 single base substitution G T intron_variant ESAD-UK 2 136106042 136106042 single base substitution C T downstream_gene_variant ESAD-UK 2 136106042 136106042 single base substitution C T intron_variant ESAD-UK 2 136106308 136106308 single base substitution C T downstream_gene_variant ESAD-UK 2 136106308 136106308 single base substitution C T intron_variant ESAD-UK 2 136107747 136107747 single base substitution C A downstream_gene_variant ESAD-UK 2 136107747 136107747 single base substitution C A exon_variant ESAD-UK 2 136107747 136107747 single base substitution C A missense_variant G133V 398G>T ESAD-UK 2 136107838 136107838 single base substitution T C downstream_gene_variant ESAD-UK 2 136107838 136107838 single base substitution T C intron_variant ESAD-UK 2 136107960 136107960 single base substitution C A downstream_gene_variant ESAD-UK 2 136107960 136107960 single base substitution C A intron_variant ESAD-UK 2 136112801 136112801 single base substitution G A intron_variant ESAD-UK 2 136112801 136112801 single base substitution G A upstream_gene_variant ESAD-UK 2 136114063 136114063 single base substitution T C intron_variant ESAD-UK 2 136114063 136114063 single base substitution T C upstream_gene_variant ESAD-UK 2 136114401 136114401 single base substitution G A intron_variant ESAD-UK 2 136114401 136114401 single base substitution G A upstream_gene_variant ESAD-UK 2 136114598 136114598 single base substitution A G intron_variant ESAD-UK 2 136114598 136114598 single base substitution A G upstream_gene_variant ESAD-UK 2 136114754 136114754 single base substitution C G intron_variant ESAD-UK 2 136114754 136114754 single base substitution C G upstream_gene_variant ESAD-UK 2 136115657 136115657 single base substitution T A intron_variant ESAD-UK 2 136115657 136115657 single base substitution T A upstream_gene_variant ESAD-UK 2 136115755 136115755 single base substitution C G intron_variant ESAD-UK 2 136115755 136115755 single base substitution C G upstream_gene_variant ESAD-UK 2 136117631 136117631 single base substitution A T intron_variant ESAD-UK 2 136117909 136117909 single base substitution C G intron_variant ESAD-UK 2 136121183 136121183 single base substitution A G intron_variant ESAD-UK 2 136121236 136121236 single base substitution G A intron_variant ESAD-UK 2 136121250 136121250 deletion of <=200bp G - intron_variant ESAD-UK 2 136123130 136123130 deletion of <=200bp G - intron_variant ESAD-UK 2 136124088 136124088 single base substitution G C intron_variant ESAD-UK 2 136124492 136124492 single base substitution G A intron_variant ESAD-UK 2 136126201 136126201 single base substitution G A intron_variant ESAD-UK 2 136127150 136127150 deletion of <=200bp T - intron_variant ESAD-UK 2 136132994 136132994 single base substitution T G intron_variant ESAD-UK 2 136133316 136133316 single base substitution T G intron_variant ESAD-UK 2 136134045 136134045 single base substitution G T intron_variant ESAD-UK 2 136134207 136134207 single base substitution A G intron_variant ESAD-UK 2 136136253 136136253 single base substitution A G intron_variant ESAD-UK 2 136139472 136139472 single base substitution G A intron_variant ESAD-UK 2 136142421 136142421 single base substitution A G intron_variant ESAD-UK 2 136143116 136143116 single base substitution A G intron_variant ESAD-UK 2 136143266 136143266 single base substitution C A intron_variant ESAD-UK 2 136147711 136147711 single base substitution A T intron_variant ESAD-UK 2 136147740 136147740 single base substitution C T intron_variant ESAD-UK 2 136148651 136148651 single base substitution G A intron_variant ESAD-UK 2 136150118 136150118 single base substitution G A intron_variant ESAD-UK 2 136150515 136150515 insertion of <=200bp - CA intron_variant ESAD-UK 2 136153913 136153913 single base substitution C G intron_variant ESAD-UK 2 136154514 136154514 insertion of <=200bp - A intron_variant ESAD-UK 2 136157086 136157086 deletion of <=200bp T - intron_variant ESAD-UK 2 136158986 136158986 single base substitution A C intron_variant ESAD-UK 2 136159023 136159023 single base substitution C A intron_variant ESAD-UK 2 136160900 136160900 single base substitution C A intron_variant ESAD-UK 2 136166557 136166557 single base substitution A C intron_variant ESAD-UK 2 136166925 136166925 single base substitution C G intron_variant ESAD-UK 2 136170342 136170342 single base substitution G T intron_variant ESAD-UK 2 136171425 136171425 single base substitution T A intron_variant ESAD-UK 2 136177564 136177564 single base substitution C T intron_variant ESAD-UK 2 136178137 136178137 single base substitution G A intron_variant ESAD-UK 2 136179980 136179980 single base substitution T A intron_variant ESAD-UK 2 136181136 136181136 single base substitution A C intron_variant ESAD-UK 2 136181614 136181615 deletion of <=200bp AG - intron_variant ESAD-UK 2 136187154 136187154 single base substitution C T intron_variant ESAD-UK 2 136187748 136187748 single base substitution A C intron_variant ESAD-UK 2 136187774 136187774 deletion of <=200bp A - intron_variant ESAD-UK 2 136189531 136189531 insertion of <=200bp - A intron_variant ESAD-UK 2 136190431 136190431 single base substitution C A intron_variant ESAD-UK 2 136191812 136191812 single base substitution C T intron_variant ESAD-UK 2 136194576 136194576 single base substitution C T intron_variant ESAD-UK 2 136195720 136195720 single base substitution T A intron_variant ESAD-UK 2 136197469 136197469 single base substitution T G intron_variant ESAD-UK 2 136197695 136197695 single base substitution T G intron_variant ESAD-UK 2 136199475 136199475 deletion of <=200bp T - intron_variant ESAD-UK 2 136199481 136199481 single base substitution T G intron_variant ESAD-UK 2 136199509 136199509 single base substitution C G intron_variant ESAD-UK 2 136200254 136200254 single base substitution T A intron_variant ESAD-UK 2 136200291 136200291 single base substitution C T intron_variant ESAD-UK 2 136200640 136200640 single base substitution C A intron_variant ESAD-UK 2 136203933 136203933 single base substitution C A intron_variant ESAD-UK 2 136206376 136206376 single base substitution G T intron_variant ESAD-UK 2 136207841 136207841 insertion of <=200bp - C intron_variant ESAD-UK 2 136208029 136208029 single base substitution A C intron_variant ESAD-UK 2 136210406 136210406 single base substitution C A intron_variant ESAD-UK 2 136210843 136210843 single base substitution G A intron_variant ESAD-UK 2 136212960 136212960 single base substitution G A intron_variant ESAD-UK 2 136213020 136213020 single base substitution A C intron_variant ESAD-UK 2 136213782 136213782 single base substitution A G intron_variant ESAD-UK 2 136215250 136215250 single base substitution T G intron_variant ESAD-UK 2 136216737 136216737 single base substitution C A intron_variant ESAD-UK 2 136217707 136217707 single base substitution T G intron_variant ESAD-UK 2 136220229 136220229 single base substitution C T intron_variant ESAD-UK 2 136220533 136220533 single base substitution A T intron_variant ESAD-UK 2 136224018 136224018 single base substitution G A intron_variant ESAD-UK 2 136224891 136224891 single base substitution T A intron_variant ESAD-UK 2 136226112 136226112 single base substitution C A intron_variant ESAD-UK 2 136227333 136227333 single base substitution A C intron_variant ESAD-UK 2 136227980 136227980 single base substitution G A intron_variant ESAD-UK 2 136228139 136228139 single base substitution C T intron_variant ESAD-UK 2 136229308 136229308 single base substitution C A intron_variant ESAD-UK 2 136230259 136230259 single base substitution A T intron_variant ESAD-UK 2 136230571 136230571 single base substitution A G intron_variant ESAD-UK 2 136231434 136231434 single base substitution T G intron_variant ESAD-UK 2 136232528 136232528 single base substitution C G intron_variant ESAD-UK 2 136234151 136234151 single base substitution A G intron_variant ESAD-UK 2 136235955 136235955 insertion of <=200bp - C intron_variant ESAD-UK 2 136235996 136235996 single base substitution C T intron_variant ESAD-UK 2 136236179 136236179 single base substitution C T intron_variant ESAD-UK 2 136237011 136237011 single base substitution C A intron_variant ESAD-UK 2 136237341 136237341 single base substitution A C intron_variant ESAD-UK 2 136237886 136237886 single base substitution T A intron_variant ESAD-UK 2 136239396 136239396 single base substitution C G intron_variant ESAD-UK 2 136242497 136242497 single base substitution T G intron_variant ESAD-UK 2 136243834 136243834 single base substitution C A intron_variant ESAD-UK 2 136247877 136247877 insertion of <=200bp - A intron_variant ESAD-UK 2 136248342 136248342 single base substitution T C intron_variant ESAD-UK 2 136248364 136248364 single base substitution T C intron_variant ESAD-UK 2 136249250 136249250 single base substitution A T intron_variant ESAD-UK 2 136249828 136249828 single base substitution G C intron_variant ESAD-UK 2 136250105 136250105 single base substitution T C intron_variant ESAD-UK 2 136252045 136252045 single base substitution T C intron_variant ESAD-UK 2 136252799 136252799 deletion of <=200bp A - intron_variant ESAD-UK 2 136254926 136254926 single base substitution A C intron_variant ESAD-UK 2 136256123 136256123 single base substitution G T intron_variant ESAD-UK 2 136259696 136259696 single base substitution A G intron_variant ESAD-UK 2 136261704 136261704 single base substitution G T intron_variant ESAD-UK 2 136263232 136263232 single base substitution C A intron_variant ESAD-UK 2 136265189 136265189 single base substitution A T intron_variant ESAD-UK 2 136266780 136266780 single base substitution T C intron_variant ESAD-UK 2 136267102 136267102 single base substitution T A intron_variant ESAD-UK 2 136267882 136267882 single base substitution C T intron_variant ESAD-UK 2 136268941 136268941 single base substitution A C intron_variant ESAD-UK 2 136269286 136269286 single base substitution C A intron_variant ESAD-UK 2 136269640 136269640 single base substitution C T intron_variant ESAD-UK 2 136270040 136270040 single base substitution T G intron_variant ESAD-UK 2 136270590 136270590 single base substitution A T intron_variant ESAD-UK 2 136271557 136271557 single base substitution T C intron_variant ESAD-UK 2 136274189 136274189 single base substitution T G intron_variant ESAD-UK 2 136277597 136277597 single base substitution C T intron_variant ESAD-UK 2 136282259 136282259 single base substitution T C intron_variant ESAD-UK 2 136282523 136282523 deletion of <=200bp T - intron_variant ESAD-UK 2 136284013 136284013 single base substitution C T intron_variant ESAD-UK 2 136284536 136284536 single base substitution T C intron_variant ESAD-UK 2 136286017 136286017 single base substitution C T intron_variant ESAD-UK 2 136286201 136286203 deletion of <=200bp CTC - intron_variant ESAD-UK 2 136286238 136286238 single base substitution C T intron_variant ESAD-UK 2 136286416 136286416 deletion of <=200bp T - intron_variant ESAD-UK 2 136287135 136287135 single base substitution C T intron_variant ESAD-UK 2 136288781 136288781 single base substitution G A 5_prime_UTR_variant ESAD-UK 2 136288781 136288781 single base substitution G A upstream_gene_variant ESAD-UK 2 136288945 136288945 single base substitution T G upstream_gene_variant ESAD-UK 2 136289706 136289706 single base substitution C A upstream_gene_variant ESAD-UK 2 136290133 136290133 insertion of <=200bp - AT upstream_gene_variant ESAD-UK 2 136292927 136292927 single base substitution G A upstream_gene_variant ESCA-CN 2 135965376 135965376 single base substitution T C 3_prime_UTR_variant ESCA-CN 2 135965376 135965376 single base substitution T C exon_variant ESCA-CN 2 135965376 135965376 single base substitution T C synonymous_variant P877P 2631A>G ESCA-CN 2 135965376 135965376 single base substitution T C synonymous_variant P879P 2637A>G ESCA-CN 2 135965376 135965376 single base substitution T C upstream_gene_variant ESCA-CN 2 135966492 135966492 single base substitution C T 3_prime_UTR_variant ESCA-CN 2 135966492 135966492 single base substitution C T exon_variant ESCA-CN 2 135966492 135966492 single base substitution C T missense_variant G849E 2546G>A ESCA-CN 2 135966492 135966492 single base substitution C T missense_variant G851E 2552G>A ESCA-CN 2 135966492 135966492 single base substitution C T upstream_gene_variant ESCA-CN 2 135988186 135988186 single base substitution G A 3_prime_UTR_variant ESCA-CN 2 135988186 135988186 single base substitution G A exon_variant ESCA-CN 2 135988186 135988186 single base substitution G A synonymous_variant T617T 1851C>T ESCA-CN 2 135988186 135988186 single base substitution G A upstream_gene_variant GBM-US 2 135890504 135890504 single base substitution G C downstream_gene_variant GBM-US 2 135893152 135893155 deletion of <=200bp GAAA - downstream_gene_variant GBM-US 2 135958008 135958008 single base substitution T C downstream_gene_variant GBM-US 2 135958008 135958008 single base substitution T C splice_region_variant GBM-US 2 135960424 135960424 single base substitution A G 3_prime_UTR_variant GBM-US 2 135960424 135960424 single base substitution A G exon_variant GBM-US 2 135960424 135960424 single base substitution A G missense_variant L1038P 3113T>C GBM-US 2 135960424 135960424 single base substitution A G missense_variant L1040P 3119T>C GBM-US 2 135965224 135965224 single base substitution G T 3_prime_UTR_variant GBM-US 2 135965224 135965224 single base substitution G T exon_variant GBM-US 2 135965224 135965224 single base substitution G T missense_variant S928Y 2783C>A GBM-US 2 135965224 135965224 single base substitution G T missense_variant S930Y 2789C>A GBM-US 2 135965224 135965224 single base substitution G T upstream_gene_variant KIRC-US 2 135926185 135926185 single base substitution C A intron_variant KIRC-US 2 135926271 135926271 single base substitution C A intron_variant KIRC-US 2 135966529 135966529 single base substitution C G 3_prime_UTR_variant KIRC-US 2 135966529 135966529 single base substitution C G exon_variant KIRC-US 2 135966529 135966529 single base substitution C G missense_variant V837L 2509G>C KIRC-US 2 135966529 135966529 single base substitution C G missense_variant V839L 2515G>C KIRC-US 2 135966529 135966529 single base substitution C G upstream_gene_variant KIRC-US 2 135988351 135988351 single base substitution T C 3_prime_UTR_variant KIRC-US 2 135988351 135988351 single base substitution T C exon_variant KIRC-US 2 135988351 135988351 single base substitution T C synonymous_variant R562R 1686A>G KIRC-US 2 135988351 135988351 single base substitution T C upstream_gene_variant KIRP-US 2 135891507 135891507 single base substitution A G downstream_gene_variant KIRP-US 2 135988115 135988115 single base substitution C T 3_prime_UTR_variant KIRP-US 2 135988115 135988115 single base substitution C T exon_variant KIRP-US 2 135988115 135988115 single base substitution C T missense_variant C641Y 1922G>A KIRP-US 2 135988115 135988115 single base substitution C T upstream_gene_variant LAML-KR 2 135927428 135927428 single base substitution T C intron_variant LAML-KR 2 135965281 135965281 single base substitution A G 3_prime_UTR_variant LAML-KR 2 135965281 135965281 single base substitution A G exon_variant LAML-KR 2 135965281 135965281 single base substitution A G missense_variant L909P 2726T>C LAML-KR 2 135965281 135965281 single base substitution A G missense_variant L911P 2732T>C LAML-KR 2 135965281 135965281 single base substitution A G upstream_gene_variant LAML-KR 2 136000042 136000042 single base substitution A T intron_variant LAML-KR 2 136000042 136000042 single base substitution A T upstream_gene_variant LAML-KR 2 136031735 136031735 single base substitution C T intron_variant LAML-KR 2 136032670 136032670 single base substitution G A intron_variant LAML-KR 2 136064198 136064198 single base substitution G A intron_variant LAML-KR 2 136064210 136064210 single base substitution A G intron_variant LAML-KR 2 136118167 136118167 single base substitution T C intron_variant LAML-KR 2 136203261 136203261 single base substitution G C intron_variant LAML-KR 2 136203265 136203265 single base substitution G C intron_variant LAML-KR 2 136203524 136203524 single base substitution C T intron_variant LAML-KR 2 136251899 136251899 single base substitution G A intron_variant LAML-KR 2 136269595 136269595 single base substitution C T intron_variant LGG-US 2 135920344 135920346 deletion of <=200bp AAG - intron_variant LICA-CN 2 135893185 135893185 single base substitution A T downstream_gene_variant LICA-CN 2 136023100 136023100 single base substitution T G downstream_gene_variant LICA-CN 2 136023100 136023100 single base substitution T G splice_region_variant LICA-CN 2 136262054 136262054 single base substitution A T exon_variant LICA-CN 2 136262054 136262054 single base substitution A T intron_variant LICA-CN 2 136262054 136262054 single base substitution A T synonymous_variant P2P 6T>A LICA-FR 2 135890773 135890773 single base substitution T C downstream_gene_variant LICA-FR 2 135895138 135895138 single base substitution A G intron_variant LICA-FR 2 135906239 135906239 deletion of <=200bp T - intron_variant LICA-FR 2 135922977 135922977 single base substitution A T intron_variant LICA-FR 2 135924397 135924397 single base substitution A G intron_variant LICA-FR 2 135931878 135931878 insertion of <=200bp - C intron_variant LICA-FR 2 135953468 135953468 single base substitution G A downstream_gene_variant LICA-FR 2 135953468 135953468 single base substitution G A intron_variant LICA-FR 2 135960509 135960509 single base substitution C G 3_prime_UTR_variant LICA-FR 2 135960509 135960509 single base substitution C G exon_variant LICA-FR 2 135960509 135960509 single base substitution C G missense_variant G1010R 3028G>C LICA-FR 2 135960509 135960509 single base substitution C G missense_variant G1012R 3034G>C LICA-FR 2 135979149 135979149 single base substitution T C downstream_gene_variant LICA-FR 2 135979149 135979149 single base substitution T C intron_variant LICA-FR 2 136015893 136015893 single base substitution G A intron_variant LICA-FR 2 136022041 136022042 deletion of <=200bp AA - downstream_gene_variant LICA-FR 2 136022041 136022042 deletion of <=200bp AA - intron_variant LICA-FR 2 136022058 136022058 single base substitution G A downstream_gene_variant LICA-FR 2 136022058 136022058 single base substitution G A intron_variant LICA-FR 2 136046818 136046818 single base substitution T G intron_variant LICA-FR 2 136047039 136047039 single base substitution C T intron_variant LICA-FR 2 136067841 136067841 single base substitution C T intron_variant LICA-FR 2 136073019 136073019 single base substitution C T exon_variant LICA-FR 2 136073019 136073019 single base substitution C T missense_variant M253I 759G>A LICA-FR 2 136097906 136097906 deletion of <=200bp C - downstream_gene_variant LICA-FR 2 136097906 136097906 deletion of <=200bp C - intron_variant LICA-FR 2 136105829 136105829 insertion of <=200bp - A intron_variant LICA-FR 2 136132072 136132072 deletion of <=200bp T - intron_variant LICA-FR 2 136165304 136165304 single base substitution A T intron_variant LICA-FR 2 136166820 136166820 single base substitution A T intron_variant LICA-FR 2 136193204 136193204 single base substitution C T intron_variant LICA-FR 2 136195143 136195143 single base substitution T C intron_variant LICA-FR 2 136217577 136217577 single base substitution C A intron_variant LICA-FR 2 136222848 136222848 single base substitution C G intron_variant LICA-FR 2 136227379 136227379 single base substitution G A intron_variant LICA-FR 2 136240835 136240835 single base substitution T C intron_variant LICA-FR 2 136240944 136240944 single base substitution A T intron_variant LICA-FR 2 136244132 136244132 single base substitution T G intron_variant LICA-FR 2 136273779 136273779 single base substitution C A intron_variant LICA-FR 2 136287524 136287524 single base substitution G A intron_variant LIHC-US 2 135976732 135976732 single base substitution C T 3_prime_UTR_variant LIHC-US 2 135976732 135976732 single base substitution C T exon_variant LIHC-US 2 135976732 135976732 single base substitution C T missense_variant S754N 2261G>A LIHC-US 2 135976732 135976732 single base substitution C T missense_variant S756N 2267G>A LIHC-US 2 135985575 135985575 single base substitution T C 3_prime_UTR_variant LIHC-US 2 135985575 135985575 single base substitution T C exon_variant LIHC-US 2 135985575 135985575 single base substitution T C missense_variant I655M 1965A>G LIHC-US 2 136029433 136029433 single base substitution T C exon_variant LIHC-US 2 136029433 136029433 single base substitution T C missense_variant S371G 1111A>G LINC-JP 2 135892835 135892835 single base substitution A G downstream_gene_variant LINC-JP 2 135894111 135894111 single base substitution G C downstream_gene_variant LINC-JP 2 135913680 135913680 single base substitution C A intron_variant LINC-JP 2 135914553 135914553 single base substitution A G intron_variant LINC-JP 2 135918998 135918998 single base substitution A G intron_variant LINC-JP 2 135924950 135924950 deletion of <=200bp T - intron_variant LINC-JP 2 135926175 135926175 single base substitution A G intron_variant LINC-JP 2 135927330 135927330 deletion of <=200bp C - intron_variant LINC-JP 2 135953852 135953852 single base substitution C T downstream_gene_variant LINC-JP 2 135953852 135953852 single base substitution C T intron_variant LINC-JP 2 135966446 135966446 single base substitution A G 3_prime_UTR_variant LINC-JP 2 135966446 135966446 single base substitution A G exon_variant LINC-JP 2 135966446 135966446 single base substitution A G synonymous_variant P864P 2592T>C LINC-JP 2 135966446 135966446 single base substitution A G synonymous_variant P866P 2598T>C LINC-JP 2 135966446 135966446 single base substitution A G upstream_gene_variant LINC-JP 2 135973658 135973658 deletion of <=200bp T - intron_variant LINC-JP 2 135975090 135975090 single base substitution T C 3_prime_UTR_variant LINC-JP 2 135975090 135975090 single base substitution T C exon_variant LINC-JP 2 135975090 135975090 single base substitution T C missense_variant I812V 2434A>G LINC-JP 2 135975090 135975090 single base substitution T C missense_variant I814V 2440A>G LINC-JP 2 135976086 135976086 deletion of <=200bp A - intron_variant LINC-JP 2 135978722 135978722 single base substitution C A downstream_gene_variant LINC-JP 2 135978722 135978722 single base substitution C A intron_variant LINC-JP 2 135984224 135984224 single base substitution A C intron_variant LINC-JP 2 135997429 135997429 single base substitution C G intron_variant LINC-JP 2 135997429 135997429 single base substitution C G upstream_gene_variant LINC-JP 2 136014573 136014573 single base substitution A G intron_variant LINC-JP 2 136035503 136035503 single base substitution C A intron_variant LINC-JP 2 136042781 136042781 single base substitution C T intron_variant LINC-JP 2 136045240 136045240 single base substitution C T intron_variant LINC-JP 2 136077821 136077821 single base substitution G A intron_variant LINC-JP 2 136080591 136080591 single base substitution A T intron_variant LINC-JP 2 136082059 136082059 single base substitution C A intron_variant LINC-JP 2 136103236 136103236 single base substitution G A intron_variant LINC-JP 2 136110873 136110873 single base substitution T C downstream_gene_variant LINC-JP 2 136110873 136110873 single base substitution T C intron_variant LINC-JP 2 136116460 136116460 single base substitution T C intron_variant LINC-JP 2 136132446 136132446 single base substitution G T intron_variant LINC-JP 2 136140858 136140858 single base substitution A G intron_variant LINC-JP 2 136148541 136148541 single base substitution C A intron_variant LINC-JP 2 136149894 136149894 single base substitution C A intron_variant LINC-JP 2 136159044 136159044 single base substitution A C intron_variant LINC-JP 2 136163152 136163152 single base substitution T A intron_variant LINC-JP 2 136163153 136163153 single base substitution C A intron_variant LINC-JP 2 136166923 136166923 single base substitution A T intron_variant LINC-JP 2 136168604 136168604 single base substitution T C intron_variant LINC-JP 2 136169739 136169739 single base substitution G C intron_variant LINC-JP 2 136183170 136183170 single base substitution A T intron_variant LINC-JP 2 136197835 136197835 single base substitution T C intron_variant LINC-JP 2 136205053 136205053 single base substitution T C intron_variant LINC-JP 2 136215497 136215497 single base substitution T C intron_variant LINC-JP 2 136250511 136250511 single base substitution T C intron_variant LINC-JP 2 136254510 136254510 single base substitution T C intron_variant LINC-JP 2 136262005 136262005 single base substitution T C exon_variant LINC-JP 2 136262005 136262005 single base substitution T C intron_variant LINC-JP 2 136262005 136262005 single base substitution T C missense_variant T19A 55A>G LINC-JP 2 136265243 136265243 single base substitution C T intron_variant LINC-JP 2 136277667 136277667 single base substitution G T intron_variant LINC-JP 2 136280323 136280323 single base substitution G C intron_variant LIRI-JP 2 135890535 135890535 single base substitution C T downstream_gene_variant LIRI-JP 2 135890775 135890775 single base substitution C T downstream_gene_variant LIRI-JP 2 135892153 135892153 single base substitution C G downstream_gene_variant LIRI-JP 2 135892252 135892252 single base substitution A G downstream_gene_variant LIRI-JP 2 135892771 135892771 single base substitution A G downstream_gene_variant LIRI-JP 2 135894123 135894123 single base substitution G C downstream_gene_variant LIRI-JP 2 135896813 135896813 single base substitution A G intron_variant LIRI-JP 2 135897162 135897162 single base substitution T G intron_variant LIRI-JP 2 135899713 135899713 single base substitution A G intron_variant LIRI-JP 2 135900334 135900334 single base substitution T G intron_variant LIRI-JP 2 135902251 135902251 single base substitution T C intron_variant LIRI-JP 2 135903999 135903999 single base substitution C T intron_variant LIRI-JP 2 135904086 135904086 single base substitution A G intron_variant LIRI-JP 2 135905612 135905612 single base substitution T G intron_variant LIRI-JP 2 135906898 135906898 single base substitution G T intron_variant LIRI-JP 2 135908734 135908734 single base substitution T C intron_variant LIRI-JP 2 135911142 135911142 single base substitution A G intron_variant LIRI-JP 2 135912449 135912449 single base substitution C A intron_variant LIRI-JP 2 135912468 135912468 single base substitution T C intron_variant LIRI-JP 2 135914639 135914639 single base substitution A G intron_variant LIRI-JP 2 135915226 135915226 single base substitution A G intron_variant LIRI-JP 2 135915691 135915691 single base substitution A G intron_variant LIRI-JP 2 135916563 135916563 single base substitution A G intron_variant LIRI-JP 2 135917873 135917873 single base substitution A G intron_variant LIRI-JP 2 135921851 135921851 single base substitution C T intron_variant LIRI-JP 2 135931000 135931000 single base substitution T C intron_variant LIRI-JP 2 135934875 135934875 single base substitution C G intron_variant LIRI-JP 2 135935511 135935511 single base substitution T A intron_variant LIRI-JP 2 135936887 135936887 single base substitution G T intron_variant LIRI-JP 2 135937433 135937433 single base substitution C T intron_variant LIRI-JP 2 135938033 135938033 single base substitution T C intron_variant LIRI-JP 2 135939015 135939015 single base substitution A G intron_variant LIRI-JP 2 135939737 135939737 single base substitution A C intron_variant LIRI-JP 2 135941181 135941181 single base substitution T G intron_variant LIRI-JP 2 135943312 135943312 single base substitution C T intron_variant LIRI-JP 2 135944600 135944600 single base substitution A C intron_variant LIRI-JP 2 135945584 135945584 single base substitution C T intron_variant LIRI-JP 2 135946835 135946835 single base substitution A G intron_variant LIRI-JP 2 135951500 135951500 single base substitution T G downstream_gene_variant LIRI-JP 2 135951500 135951500 single base substitution T G intron_variant LIRI-JP 2 135953820 135953820 single base substitution G T downstream_gene_variant LIRI-JP 2 135953820 135953820 single base substitution G T intron_variant LIRI-JP 2 135954457 135954457 single base substitution A T downstream_gene_variant LIRI-JP 2 135954457 135954457 single base substitution A T intron_variant LIRI-JP 2 135954547 135954547 single base substitution A T 3_prime_UTR_variant LIRI-JP 2 135954547 135954547 single base substitution A T downstream_gene_variant LIRI-JP 2 135954547 135954547 single base substitution A T intron_variant LIRI-JP 2 135954591 135954591 single base substitution T A 3_prime_UTR_variant LIRI-JP 2 135954591 135954591 single base substitution T A downstream_gene_variant LIRI-JP 2 135954591 135954591 single base substitution T A intron_variant LIRI-JP 2 135956426 135956426 single base substitution G C 3_prime_UTR_variant LIRI-JP 2 135956426 135956426 single base substitution G C downstream_gene_variant LIRI-JP 2 135956426 135956426 single base substitution G C intron_variant LIRI-JP 2 135959497 135959497 single base substitution G T downstream_gene_variant LIRI-JP 2 135959497 135959497 single base substitution G T intron_variant LIRI-JP 2 135960185 135960185 single base substitution C T exon_variant LIRI-JP 2 135960185 135960185 single base substitution C T intron_variant LIRI-JP 2 135960603 135960603 single base substitution T C intron_variant LIRI-JP 2 135960855 135960855 single base substitution C G intron_variant LIRI-JP 2 135961433 135961433 single base substitution A G intron_variant LIRI-JP 2 135961581 135961581 single base substitution G A intron_variant LIRI-JP 2 135961725 135961725 single base substitution T A intron_variant LIRI-JP 2 135962163 135962163 single base substitution G T intron_variant LIRI-JP 2 135962808 135962808 single base substitution A G intron_variant LIRI-JP 2 135963726 135963726 single base substitution T C intron_variant LIRI-JP 2 135964147 135964147 single base substitution G C intron_variant LIRI-JP 2 135966575 135966575 single base substitution T G intron_variant LIRI-JP 2 135966575 135966575 single base substitution T G upstream_gene_variant LIRI-JP 2 135968530 135968530 single base substitution T C intron_variant LIRI-JP 2 135968530 135968530 single base substitution T C upstream_gene_variant LIRI-JP 2 135968765 135968765 single base substitution A T intron_variant LIRI-JP 2 135968765 135968765 single base substitution A T upstream_gene_variant LIRI-JP 2 135970798 135970798 single base substitution C T intron_variant LIRI-JP 2 135971813 135971813 single base substitution C T intron_variant LIRI-JP 2 135971886 135971886 single base substitution T C intron_variant LIRI-JP 2 135971911 135971911 single base substitution T C intron_variant LIRI-JP 2 135974454 135974454 deletion of <=200bp T - intron_variant LIRI-JP 2 135974649 135974649 single base substitution T G intron_variant LIRI-JP 2 135975182 135975182 single base substitution C A splice_region_variant LIRI-JP 2 135977538 135977538 single base substitution C A downstream_gene_variant LIRI-JP 2 135977538 135977538 single base substitution C A intron_variant LIRI-JP 2 135979552 135979552 single base substitution C T downstream_gene_variant LIRI-JP 2 135979552 135979552 single base substitution C T intron_variant LIRI-JP 2 135980035 135980035 single base substitution C T downstream_gene_variant LIRI-JP 2 135980035 135980035 single base substitution C T intron_variant LIRI-JP 2 135980357 135980357 single base substitution T C downstream_gene_variant LIRI-JP 2 135980357 135980357 single base substitution T C intron_variant LIRI-JP 2 135981429 135981429 single base substitution T A downstream_gene_variant LIRI-JP 2 135981429 135981429 single base substitution T A intron_variant LIRI-JP 2 135984735 135984735 single base substitution A C intron_variant LIRI-JP 2 135987353 135987353 single base substitution A C intron_variant LIRI-JP 2 135987353 135987353 single base substitution A C upstream_gene_variant LIRI-JP 2 135987358 135987358 single base substitution A T intron_variant LIRI-JP 2 135987358 135987358 single base substitution A T upstream_gene_variant LIRI-JP 2 135988019 135988019 single base substitution G C intron_variant LIRI-JP 2 135988019 135988019 single base substitution G C upstream_gene_variant LIRI-JP 2 135997187 135997187 single base substitution T C intron_variant LIRI-JP 2 135997187 135997187 single base substitution T C upstream_gene_variant LIRI-JP 2 136000337 136000337 single base substitution C T intron_variant LIRI-JP 2 136000337 136000337 single base substitution C T upstream_gene_variant LIRI-JP 2 136004571 136004571 single base substitution T C intron_variant LIRI-JP 2 136004631 136004631 single base substitution T G intron_variant LIRI-JP 2 136005344 136005344 single base substitution G A intron_variant LIRI-JP 2 136005709 136005709 single base substitution G A intron_variant LIRI-JP 2 136008207 136008207 single base substitution G A intron_variant LIRI-JP 2 136009850 136009850 single base substitution A G intron_variant LIRI-JP 2 136009862 136009862 single base substitution T C intron_variant LIRI-JP 2 136010556 136010556 single base substitution A G intron_variant LIRI-JP 2 136011142 136011142 single base substitution C A intron_variant LIRI-JP 2 136012715 136012715 single base substitution C G intron_variant LIRI-JP 2 136014527 136014527 single base substitution A T intron_variant LIRI-JP 2 136016473 136016473 single base substitution G A intron_variant LIRI-JP 2 136017020 136017020 single base substitution T C intron_variant LIRI-JP 2 136021687 136021687 single base substitution G A downstream_gene_variant LIRI-JP 2 136021687 136021687 single base substitution G A intron_variant LIRI-JP 2 136024464 136024464 single base substitution C A downstream_gene_variant LIRI-JP 2 136024464 136024464 single base substitution C A intron_variant LIRI-JP 2 136026587 136026587 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 136026587 136026587 single base substitution T C downstream_gene_variant LIRI-JP 2 136026587 136026587 single base substitution T C missense_variant Y444C 1331A>G LIRI-JP 2 136028173 136028173 single base substitution A G intron_variant LIRI-JP 2 136030225 136030225 single base substitution C T intron_variant LIRI-JP 2 136032522 136032522 single base substitution A T intron_variant LIRI-JP 2 136034150 136034150 single base substitution C A intron_variant LIRI-JP 2 136036358 136036358 single base substitution T C intron_variant LIRI-JP 2 136039246 136039246 single base substitution T C intron_variant LIRI-JP 2 136039909 136039909 single base substitution C G intron_variant LIRI-JP 2 136041661 136041661 single base substitution T A intron_variant LIRI-JP 2 136042473 136042473 single base substitution C T intron_variant LIRI-JP 2 136042551 136042551 single base substitution G A intron_variant LIRI-JP 2 136042894 136042894 single base substitution A G intron_variant LIRI-JP 2 136043158 136043158 single base substitution G A intron_variant LIRI-JP 2 136047201 136047201 single base substitution A T intron_variant LIRI-JP 2 136047641 136047641 single base substitution G C intron_variant LIRI-JP 2 136048909 136048909 single base substitution C T intron_variant LIRI-JP 2 136052444 136052444 single base substitution C T intron_variant LIRI-JP 2 136054596 136054596 single base substitution G C intron_variant LIRI-JP 2 136055334 136055334 single base substitution T A intron_variant LIRI-JP 2 136057238 136057238 single base substitution C G intron_variant LIRI-JP 2 136058393 136058393 single base substitution T C intron_variant LIRI-JP 2 136058438 136058438 single base substitution C A intron_variant LIRI-JP 2 136061389 136061389 single base substitution T C intron_variant LIRI-JP 2 136062065 136062065 single base substitution A G intron_variant LIRI-JP 2 136062266 136062266 single base substitution T C intron_variant LIRI-JP 2 136062941 136062941 single base substitution T A intron_variant LIRI-JP 2 136063365 136063365 single base substitution C T intron_variant LIRI-JP 2 136066522 136066522 single base substitution G A intron_variant LIRI-JP 2 136068965 136068965 single base substitution T C intron_variant LIRI-JP 2 136069086 136069086 single base substitution T C intron_variant LIRI-JP 2 136069107 136069107 single base substitution T A intron_variant LIRI-JP 2 136069847 136069847 single base substitution T C intron_variant LIRI-JP 2 136070458 136070458 single base substitution C A intron_variant LIRI-JP 2 136071465 136071465 single base substitution G A intron_variant LIRI-JP 2 136071724 136071724 single base substitution G A intron_variant LIRI-JP 2 136071882 136071882 single base substitution T A intron_variant LIRI-JP 2 136075466 136075466 single base substitution C T intron_variant LIRI-JP 2 136078293 136078293 single base substitution A G intron_variant LIRI-JP 2 136078325 136078325 single base substitution T A intron_variant LIRI-JP 2 136085087 136085087 single base substitution A T intron_variant LIRI-JP 2 136085215 136085215 single base substitution T C intron_variant LIRI-JP 2 136088448 136088448 single base substitution G A intron_variant LIRI-JP 2 136092771 136092771 single base substitution G A intron_variant LIRI-JP 2 136093139 136093139 single base substitution T A intron_variant LIRI-JP 2 136098554 136098554 single base substitution T C downstream_gene_variant LIRI-JP 2 136098554 136098554 single base substitution T C intron_variant LIRI-JP 2 136099218 136099218 single base substitution G A downstream_gene_variant LIRI-JP 2 136099218 136099218 single base substitution G A intron_variant LIRI-JP 2 136099940 136099940 single base substitution A T downstream_gene_variant LIRI-JP 2 136099940 136099940 single base substitution A T intron_variant LIRI-JP 2 136101235 136101235 single base substitution A G downstream_gene_variant LIRI-JP 2 136101235 136101235 single base substitution A G intron_variant LIRI-JP 2 136102436 136102436 single base substitution T C downstream_gene_variant LIRI-JP 2 136102436 136102436 single base substitution T C intron_variant LIRI-JP 2 136104062 136104062 single base substitution T C intron_variant LIRI-JP 2 136105675 136105675 single base substitution A G intron_variant LIRI-JP 2 136106729 136106729 single base substitution T C downstream_gene_variant LIRI-JP 2 136106729 136106729 single base substitution T C intron_variant LIRI-JP 2 136106856 136106856 single base substitution C T downstream_gene_variant LIRI-JP 2 136106856 136106856 single base substitution C T intron_variant LIRI-JP 2 136108180 136108180 single base substitution A G downstream_gene_variant LIRI-JP 2 136108180 136108180 single base substitution A G intron_variant LIRI-JP 2 136109312 136109312 single base substitution C T downstream_gene_variant LIRI-JP 2 136109312 136109312 single base substitution C T intron_variant LIRI-JP 2 136109948 136109948 single base substitution C G downstream_gene_variant LIRI-JP 2 136109948 136109948 single base substitution C G intron_variant LIRI-JP 2 136110455 136110455 single base substitution T C downstream_gene_variant LIRI-JP 2 136110455 136110455 single base substitution T C intron_variant LIRI-JP 2 136110953 136110953 single base substitution A G exon_variant LIRI-JP 2 136110953 136110953 single base substitution A G intron_variant LIRI-JP 2 136111362 136111362 single base substitution G T intron_variant LIRI-JP 2 136111362 136111362 single base substitution G T upstream_gene_variant LIRI-JP 2 136111673 136111673 single base substitution C T intron_variant LIRI-JP 2 136111673 136111673 single base substitution C T upstream_gene_variant LIRI-JP 2 136113703 136113703 single base substitution T C intron_variant LIRI-JP 2 136113703 136113703 single base substitution T C upstream_gene_variant LIRI-JP 2 136114072 136114072 single base substitution G A intron_variant LIRI-JP 2 136114072 136114072 single base substitution G A upstream_gene_variant LIRI-JP 2 136115055 136115055 single base substitution G C intron_variant LIRI-JP 2 136115055 136115055 single base substitution G C upstream_gene_variant LIRI-JP 2 136117579 136117579 single base substitution T A intron_variant LIRI-JP 2 136117966 136117966 single base substitution G T intron_variant LIRI-JP 2 136121107 136121107 single base substitution T C intron_variant LIRI-JP 2 136121320 136121320 single base substitution G T intron_variant LIRI-JP 2 136124491 136124491 single base substitution T C intron_variant LIRI-JP 2 136124713 136124713 single base substitution A C intron_variant LIRI-JP 2 136128525 136128525 single base substitution T G intron_variant LIRI-JP 2 136131116 136131116 single base substitution G C intron_variant LIRI-JP 2 136132449 136132449 single base substitution T C intron_variant LIRI-JP 2 136135274 136135274 single base substitution T C intron_variant LIRI-JP 2 136135687 136135687 single base substitution T C intron_variant LIRI-JP 2 136135871 136135871 single base substitution T G intron_variant LIRI-JP 2 136136171 136136171 single base substitution T C intron_variant LIRI-JP 2 136136181 136136181 single base substitution T C intron_variant LIRI-JP 2 136136987 136136987 single base substitution G C intron_variant LIRI-JP 2 136140444 136140444 single base substitution C T intron_variant LIRI-JP 2 136141153 136141153 single base substitution C T intron_variant LIRI-JP 2 136145383 136145383 single base substitution T C intron_variant LIRI-JP 2 136146749 136146749 single base substitution T C intron_variant LIRI-JP 2 136146807 136146807 single base substitution T C intron_variant LIRI-JP 2 136148667 136148667 single base substitution G A intron_variant LIRI-JP 2 136148754 136148754 single base substitution A C intron_variant LIRI-JP 2 136150770 136150770 single base substitution A G intron_variant LIRI-JP 2 136155340 136155357 deletion of <=200bp TGCTTGCTGTGCTTTCAA - intron_variant LIRI-JP 2 136156189 136156189 single base substitution C T intron_variant LIRI-JP 2 136156465 136156465 single base substitution C A intron_variant LIRI-JP 2 136156519 136156519 single base substitution G C intron_variant LIRI-JP 2 136156626 136156626 single base substitution T C intron_variant LIRI-JP 2 136157871 136157871 single base substitution T A intron_variant LIRI-JP 2 136159013 136159013 single base substitution T C intron_variant LIRI-JP 2 136159384 136159384 single base substitution T C intron_variant LIRI-JP 2 136159859 136159859 single base substitution T C intron_variant LIRI-JP 2 136161128 136161128 single base substitution C T intron_variant LIRI-JP 2 136161542 136161542 single base substitution C A intron_variant LIRI-JP 2 136161752 136161752 single base substitution G A intron_variant LIRI-JP 2 136164427 136164427 single base substitution C T intron_variant LIRI-JP 2 136165863 136165863 single base substitution T C intron_variant LIRI-JP 2 136167761 136167761 single base substitution A G intron_variant LIRI-JP 2 136168042 136168042 single base substitution T C intron_variant LIRI-JP 2 136169813 136169813 single base substitution G C intron_variant LIRI-JP 2 136170368 136170368 single base substitution T C intron_variant LIRI-JP 2 136170870 136170870 single base substitution G A intron_variant LIRI-JP 2 136171121 136171121 single base substitution G C intron_variant LIRI-JP 2 136176259 136176259 single base substitution C A intron_variant LIRI-JP 2 136178090 136178090 single base substitution T G intron_variant LIRI-JP 2 136178295 136178295 single base substitution G A intron_variant LIRI-JP 2 136178433 136178433 single base substitution T C intron_variant LIRI-JP 2 136181204 136181204 single base substitution T C intron_variant LIRI-JP 2 136182588 136182588 single base substitution G A intron_variant LIRI-JP 2 136183122 136183122 single base substitution A G intron_variant LIRI-JP 2 136183403 136183403 single base substitution T C intron_variant LIRI-JP 2 136184361 136184361 single base substitution C T intron_variant LIRI-JP 2 136185953 136185953 single base substitution G A intron_variant LIRI-JP 2 136186495 136186495 single base substitution C A intron_variant LIRI-JP 2 136188784 136188784 single base substitution C T intron_variant LIRI-JP 2 136188794 136188794 single base substitution C A intron_variant LIRI-JP 2 136188867 136188867 single base substitution G A intron_variant LIRI-JP 2 136189621 136189621 single base substitution G A intron_variant LIRI-JP 2 136190756 136190756 single base substitution T C intron_variant LIRI-JP 2 136193359 136193359 single base substitution T A intron_variant LIRI-JP 2 136194830 136194830 single base substitution T A intron_variant LIRI-JP 2 136196289 136196289 single base substitution T C intron_variant LIRI-JP 2 136197252 136197252 single base substitution C T intron_variant LIRI-JP 2 136198553 136198553 single base substitution T C intron_variant LIRI-JP 2 136199079 136199079 single base substitution T C intron_variant LIRI-JP 2 136199109 136199109 single base substitution C A intron_variant LIRI-JP 2 136200384 136200384 single base substitution A T intron_variant LIRI-JP 2 136200387 136200387 single base substitution C T intron_variant LIRI-JP 2 136201329 136201329 single base substitution T C intron_variant LIRI-JP 2 136201699 136201699 single base substitution T C intron_variant LIRI-JP 2 136204202 136204202 single base substitution A C intron_variant LIRI-JP 2 136205485 136205485 single base substitution A G intron_variant LIRI-JP 2 136208070 136208070 single base substitution G A intron_variant LIRI-JP 2 136208511 136208511 single base substitution G A intron_variant LIRI-JP 2 136210270 136210270 single base substitution T C intron_variant LIRI-JP 2 136211582 136211582 single base substitution T C intron_variant LIRI-JP 2 136211658 136211658 single base substitution C T intron_variant LIRI-JP 2 136213996 136213996 single base substitution G A intron_variant LIRI-JP 2 136214254 136214254 single base substitution T A intron_variant LIRI-JP 2 136215112 136215112 single base substitution T A intron_variant LIRI-JP 2 136221182 136221182 single base substitution T C intron_variant LIRI-JP 2 136221567 136221569 deletion of <=200bp TAC - intron_variant LIRI-JP 2 136222705 136222705 single base substitution T C intron_variant LIRI-JP 2 136223536 136223536 single base substitution T C intron_variant LIRI-JP 2 136224016 136224016 single base substitution G A intron_variant LIRI-JP 2 136226063 136226063 single base substitution A C intron_variant LIRI-JP 2 136226157 136226157 single base substitution A C intron_variant LIRI-JP 2 136228519 136228519 single base substitution C A intron_variant LIRI-JP 2 136228591 136228591 single base substitution T C intron_variant LIRI-JP 2 136228601 136228601 single base substitution G A intron_variant LIRI-JP 2 136228605 136228605 single base substitution T C intron_variant LIRI-JP 2 136228872 136228872 single base substitution T C intron_variant LIRI-JP 2 136228966 136228966 single base substitution G A intron_variant LIRI-JP 2 136230308 136230308 single base substitution C T intron_variant LIRI-JP 2 136232384 136232384 single base substitution T C intron_variant LIRI-JP 2 136235971 136235971 single base substitution C G intron_variant LIRI-JP 2 136236276 136236276 single base substitution T C intron_variant LIRI-JP 2 136244015 136244015 single base substitution T C intron_variant LIRI-JP 2 136244984 136244984 single base substitution C A intron_variant LIRI-JP 2 136245157 136245157 single base substitution T C intron_variant LIRI-JP 2 136246376 136246376 single base substitution C A intron_variant LIRI-JP 2 136248327 136248327 single base substitution T C intron_variant LIRI-JP 2 136252309 136252309 single base substitution A T intron_variant LIRI-JP 2 136252709 136252709 single base substitution G A intron_variant LIRI-JP 2 136252877 136252877 single base substitution G C intron_variant LIRI-JP 2 136256115 136256115 single base substitution G A intron_variant LIRI-JP 2 136257987 136257987 single base substitution A G intron_variant LIRI-JP 2 136258474 136258474 single base substitution A G intron_variant LIRI-JP 2 136258894 136258894 single base substitution T C intron_variant LIRI-JP 2 136262727 136262727 single base substitution T C intron_variant LIRI-JP 2 136262821 136262821 single base substitution C A intron_variant LIRI-JP 2 136262822 136262822 single base substitution C A intron_variant LIRI-JP 2 136270654 136270654 single base substitution T C intron_variant LIRI-JP 2 136272052 136272052 single base substitution T A intron_variant LIRI-JP 2 136272512 136272512 single base substitution T C intron_variant LIRI-JP 2 136273271 136273271 single base substitution C T intron_variant LIRI-JP 2 136273377 136273377 single base substitution C T intron_variant LIRI-JP 2 136273956 136273956 single base substitution T C intron_variant LIRI-JP 2 136274031 136274031 single base substitution G A intron_variant LIRI-JP 2 136274196 136274196 single base substitution T C intron_variant LIRI-JP 2 136276530 136276530 single base substitution T C intron_variant LIRI-JP 2 136279242 136279242 single base substitution C T intron_variant LIRI-JP 2 136279448 136279448 single base substitution A G intron_variant LIRI-JP 2 136283548 136283548 single base substitution T C intron_variant LIRI-JP 2 136283959 136283959 single base substitution C T intron_variant LIRI-JP 2 136286121 136286121 single base substitution A G intron_variant LIRI-JP 2 136288590 136288590 single base substitution C T intron_variant LIRI-JP 2 136288590 136288590 single base substitution C T upstream_gene_variant LIRI-JP 2 136288622 136288622 single base substitution T A intron_variant LIRI-JP 2 136288622 136288622 single base substitution T A upstream_gene_variant LIRI-JP 2 136289690 136289690 deletion of <=200bp G - upstream_gene_variant LIRI-JP 2 136290551 136290551 single base substitution G A upstream_gene_variant LUSC-KR 2 135898815 135898815 single base substitution G T intron_variant LUSC-KR 2 135901603 135901603 single base substitution C T intron_variant LUSC-KR 2 135904121 135904121 single base substitution A T intron_variant LUSC-KR 2 135904150 135904150 single base substitution G T intron_variant LUSC-KR 2 135905195 135905195 single base substitution T C intron_variant LUSC-KR 2 135905599 135905599 single base substitution T A intron_variant LUSC-KR 2 135905926 135905926 single base substitution G T intron_variant LUSC-KR 2 135907217 135907217 single base substitution T C intron_variant LUSC-KR 2 135910118 135910118 single base substitution A T intron_variant LUSC-KR 2 135910396 135910396 single base substitution A T intron_variant LUSC-KR 2 135911556 135911556 single base substitution T G intron_variant LUSC-KR 2 135913097 135913097 single base substitution C T intron_variant LUSC-KR 2 135914567 135914567 single base substitution A G intron_variant LUSC-KR 2 135915637 135915637 single base substitution T C intron_variant LUSC-KR 2 135919200 135919200 single base substitution C T intron_variant LUSC-KR 2 135920108 135920108 single base substitution C T exon_variant LUSC-KR 2 135921609 135921609 single base substitution T C intron_variant LUSC-KR 2 135923284 135923284 single base substitution G C intron_variant LUSC-KR 2 135923396 135923396 single base substitution G A intron_variant LUSC-KR 2 135925619 135925619 single base substitution A G intron_variant LUSC-KR 2 135926521 135926521 single base substitution C T intron_variant LUSC-KR 2 135927374 135927374 single base substitution A T intron_variant LUSC-KR 2 135927428 135927428 single base substitution T C intron_variant LUSC-KR 2 135931331 135931331 single base substitution C G intron_variant LUSC-KR 2 135931471 135931471 single base substitution G C intron_variant LUSC-KR 2 135931586 135931586 single base substitution T G intron_variant LUSC-KR 2 135933760 135933760 single base substitution C A intron_variant LUSC-KR 2 135936154 135936154 single base substitution C G intron_variant LUSC-KR 2 135939571 135939571 single base substitution G T intron_variant LUSC-KR 2 135945643 135945643 single base substitution G A intron_variant LUSC-KR 2 135949025 135949025 single base substitution A G intron_variant LUSC-KR 2 135949442 135949442 single base substitution T C intron_variant LUSC-KR 2 135952260 135952260 single base substitution A T downstream_gene_variant LUSC-KR 2 135952260 135952260 single base substitution A T intron_variant LUSC-KR 2 135960553 135960553 single base substitution T A intron_variant LUSC-KR 2 135960616 135960616 single base substitution G A intron_variant LUSC-KR 2 135965376 135965376 single base substitution T C 3_prime_UTR_variant LUSC-KR 2 135965376 135965376 single base substitution T C exon_variant LUSC-KR 2 135965376 135965376 single base substitution T C synonymous_variant P877P 2631A>G LUSC-KR 2 135965376 135965376 single base substitution T C synonymous_variant P879P 2637A>G LUSC-KR 2 135965376 135965376 single base substitution T C upstream_gene_variant LUSC-KR 2 135968035 135968035 single base substitution G T intron_variant LUSC-KR 2 135968035 135968035 single base substitution G T upstream_gene_variant LUSC-KR 2 135970982 135970982 single base substitution C T intron_variant LUSC-KR 2 135976170 135976170 single base substitution G T intron_variant LUSC-KR 2 135976740 135976740 single base substitution T C 3_prime_UTR_variant LUSC-KR 2 135976740 135976740 single base substitution T C exon_variant LUSC-KR 2 135976740 135976740 single base substitution T C synonymous_variant K751K 2253A>G LUSC-KR 2 135976740 135976740 single base substitution T C synonymous_variant K753K 2259A>G LUSC-KR 2 135978519 135978519 single base substitution C T downstream_gene_variant LUSC-KR 2 135978519 135978519 single base substitution C T intron_variant LUSC-KR 2 135978774 135978774 single base substitution T A downstream_gene_variant LUSC-KR 2 135978774 135978774 single base substitution T A intron_variant LUSC-KR 2 135982492 135982492 single base substitution T C intron_variant LUSC-KR 2 135983195 135983195 single base substitution C T intron_variant LUSC-KR 2 135987226 135987226 single base substitution C A intron_variant LUSC-KR 2 135987226 135987226 single base substitution C A upstream_gene_variant LUSC-KR 2 135988127 135988127 single base substitution T A 3_prime_UTR_variant LUSC-KR 2 135988127 135988127 single base substitution T A exon_variant LUSC-KR 2 135988127 135988127 single base substitution T A missense_variant E637V 1910A>T LUSC-KR 2 135988127 135988127 single base substitution T A upstream_gene_variant LUSC-KR 2 135988416 135988416 single base substitution C T 3_prime_UTR_variant LUSC-KR 2 135988416 135988416 single base substitution C T exon_variant LUSC-KR 2 135988416 135988416 single base substitution C T missense_variant E541K 1621G>A LUSC-KR 2 135988416 135988416 single base substitution C T upstream_gene_variant LUSC-KR 2 135989101 135989101 single base substitution G T intron_variant LUSC-KR 2 135989101 135989101 single base substitution G T upstream_gene_variant LUSC-KR 2 135989913 135989913 single base substitution C A intron_variant LUSC-KR 2 135989913 135989913 single base substitution C A upstream_gene_variant LUSC-KR 2 135990046 135990046 single base substitution G A intron_variant LUSC-KR 2 135990046 135990046 single base substitution G A upstream_gene_variant LUSC-KR 2 135992069 135992069 single base substitution C A intron_variant LUSC-KR 2 135992651 135992651 single base substitution G A intron_variant LUSC-KR 2 135992727 135992727 single base substitution A T intron_variant LUSC-KR 2 135993302 135993302 single base substitution C G intron_variant LUSC-KR 2 135993374 135993374 single base substitution A G intron_variant LUSC-KR 2 135993820 135993820 single base substitution C G intron_variant LUSC-KR 2 135994117 135994117 single base substitution A G intron_variant LUSC-KR 2 135997366 135997366 single base substitution G A intron_variant LUSC-KR 2 135997366 135997366 single base substitution G A upstream_gene_variant LUSC-KR 2 135998046 135998046 single base substitution A G intron_variant LUSC-KR 2 135998046 135998046 single base substitution A G upstream_gene_variant LUSC-KR 2 136008230 136008230 single base substitution G C intron_variant LUSC-KR 2 136009403 136009403 single base substitution G A intron_variant LUSC-KR 2 136010044 136010044 single base substitution T C intron_variant LUSC-KR 2 136012423 136012423 single base substitution C G intron_variant LUSC-KR 2 136013077 136013077 single base substitution C T intron_variant LUSC-KR 2 136015841 136015841 single base substitution T C intron_variant LUSC-KR 2 136016016 136016016 single base substitution T C intron_variant LUSC-KR 2 136018166 136018166 single base substitution T C intron_variant LUSC-KR 2 136020165 136020165 single base substitution C A intron_variant LUSC-KR 2 136020608 136020608 single base substitution T C intron_variant LUSC-KR 2 136020826 136020826 single base substitution C T intron_variant LUSC-KR 2 136021981 136021981 single base substitution G A downstream_gene_variant LUSC-KR 2 136021981 136021981 single base substitution G A intron_variant LUSC-KR 2 136027414 136027414 single base substitution A T intron_variant LUSC-KR 2 136027938 136027938 single base substitution G C intron_variant LUSC-KR 2 136030138 136030138 single base substitution C A intron_variant LUSC-KR 2 136030307 136030307 single base substitution T C intron_variant LUSC-KR 2 136030589 136030589 single base substitution T C intron_variant LUSC-KR 2 136040065 136040065 single base substitution C G intron_variant LUSC-KR 2 136046641 136046641 single base substitution A G intron_variant LUSC-KR 2 136046642 136046642 single base substitution T G intron_variant LUSC-KR 2 136047014 136047014 single base substitution C A intron_variant LUSC-KR 2 136048254 136048254 single base substitution C A intron_variant LUSC-KR 2 136049573 136049573 single base substitution C T intron_variant LUSC-KR 2 136049788 136049788 single base substitution T C intron_variant LUSC-KR 2 136052022 136052022 single base substitution C A intron_variant LUSC-KR 2 136053612 136053612 single base substitution G C intron_variant LUSC-KR 2 136056123 136056123 single base substitution C G intron_variant LUSC-KR 2 136058125 136058125 single base substitution C A intron_variant LUSC-KR 2 136060169 136060169 single base substitution C T intron_variant LUSC-KR 2 136060449 136060449 single base substitution G A intron_variant LUSC-KR 2 136061382 136061382 single base substitution T A intron_variant LUSC-KR 2 136061667 136061667 single base substitution C G intron_variant LUSC-KR 2 136063459 136063459 single base substitution C A intron_variant LUSC-KR 2 136063968 136063968 single base substitution C A intron_variant LUSC-KR 2 136064025 136064025 single base substitution T A intron_variant LUSC-KR 2 136069989 136069989 single base substitution C T intron_variant LUSC-KR 2 136072764 136072764 single base substitution C T intron_variant LUSC-KR 2 136073075 136073075 single base substitution C A exon_variant LUSC-KR 2 136073075 136073075 single base substitution C A missense_variant D235Y 703G>T LUSC-KR 2 136073211 136073211 single base substitution T C intron_variant LUSC-KR 2 136074333 136074333 single base substitution T G intron_variant LUSC-KR 2 136083028 136083028 single base substitution G A intron_variant LUSC-KR 2 136083189 136083189 single base substitution T A intron_variant LUSC-KR 2 136086921 136086921 single base substitution C A intron_variant LUSC-KR 2 136089796 136089796 single base substitution T C intron_variant LUSC-KR 2 136090583 136090583 single base substitution C G intron_variant LUSC-KR 2 136090591 136090591 single base substitution C T intron_variant LUSC-KR 2 136091787 136091787 single base substitution C T intron_variant LUSC-KR 2 136092147 136092147 single base substitution C T intron_variant LUSC-KR 2 136092336 136092336 single base substitution G A intron_variant LUSC-KR 2 136093157 136093157 single base substitution C A intron_variant LUSC-KR 2 136093791 136093791 single base substitution G A intron_variant LUSC-KR 2 136094675 136094675 single base substitution C G intron_variant LUSC-KR 2 136095200 136095200 single base substitution A G intron_variant LUSC-KR 2 136095599 136095599 single base substitution G A intron_variant LUSC-KR 2 136099626 136099626 single base substitution G A downstream_gene_variant LUSC-KR 2 136099626 136099626 single base substitution G A intron_variant LUSC-KR 2 136100862 136100862 single base substitution G A downstream_gene_variant LUSC-KR 2 136100862 136100862 single base substitution G A intron_variant LUSC-KR 2 136102971 136102971 single base substitution G A exon_variant LUSC-KR 2 136102971 136102971 single base substitution G A intron_variant LUSC-KR 2 136103182 136103182 single base substitution G A exon_variant LUSC-KR 2 136103182 136103182 single base substitution G A synonymous_variant L205L 615C>T LUSC-KR 2 136104393 136104393 single base substitution G A intron_variant LUSC-KR 2 136106957 136106957 single base substitution C T downstream_gene_variant LUSC-KR 2 136106957 136106957 single base substitution C T intron_variant LUSC-KR 2 136107463 136107463 single base substitution G C downstream_gene_variant LUSC-KR 2 136107463 136107463 single base substitution G C intron_variant LUSC-KR 2 136107839 136107839 single base substitution G A downstream_gene_variant LUSC-KR 2 136107839 136107839 single base substitution G A intron_variant LUSC-KR 2 136108580 136108580 single base substitution T G downstream_gene_variant LUSC-KR 2 136108580 136108580 single base substitution T G intron_variant LUSC-KR 2 136110260 136110260 single base substitution C A downstream_gene_variant LUSC-KR 2 136110260 136110260 single base substitution C A intron_variant LUSC-KR 2 136110835 136110835 single base substitution C A downstream_gene_variant LUSC-KR 2 136110835 136110835 single base substitution C A intron_variant LUSC-KR 2 136113054 136113054 single base substitution C T intron_variant LUSC-KR 2 136113054 136113054 single base substitution C T upstream_gene_variant LUSC-KR 2 136114664 136114664 single base substitution G C intron_variant LUSC-KR 2 136114664 136114664 single base substitution G C upstream_gene_variant LUSC-KR 2 136114777 136114777 single base substitution C A intron_variant LUSC-KR 2 136114777 136114777 single base substitution C A upstream_gene_variant LUSC-KR 2 136118427 136118427 single base substitution C A intron_variant LUSC-KR 2 136119388 136119388 single base substitution C A intron_variant LUSC-KR 2 136121407 136121407 single base substitution A T intron_variant LUSC-KR 2 136128386 136128386 single base substitution C A intron_variant LUSC-KR 2 136128387 136128387 single base substitution C A intron_variant LUSC-KR 2 136130052 136130052 single base substitution C T intron_variant LUSC-KR 2 136131379 136131379 single base substitution G A intron_variant LUSC-KR 2 136133229 136133229 single base substitution T A intron_variant LUSC-KR 2 136133319 136133319 single base substitution G C intron_variant LUSC-KR 2 136133320 136133320 single base substitution G T intron_variant LUSC-KR 2 136136979 136136979 single base substitution G A intron_variant LUSC-KR 2 136140360 136140360 single base substitution T A intron_variant LUSC-KR 2 136141236 136141236 single base substitution C A intron_variant LUSC-KR 2 136142446 136142446 single base substitution C A intron_variant LUSC-KR 2 136142865 136142865 single base substitution G C intron_variant LUSC-KR 2 136145166 136145166 single base substitution T A intron_variant LUSC-KR 2 136145506 136145506 single base substitution C A intron_variant LUSC-KR 2 136146357 136146357 single base substitution C A intron_variant LUSC-KR 2 136146826 136146826 single base substitution C G intron_variant LUSC-KR 2 136152750 136152750 single base substitution C A intron_variant LUSC-KR 2 136156032 136156032 single base substitution T A intron_variant LUSC-KR 2 136158843 136158843 single base substitution G C intron_variant LUSC-KR 2 136163788 136163788 single base substitution C A intron_variant LUSC-KR 2 136167356 136167356 single base substitution A G intron_variant LUSC-KR 2 136172713 136172713 single base substitution C A intron_variant LUSC-KR 2 136172929 136172929 single base substitution G A intron_variant LUSC-KR 2 136173518 136173518 single base substitution G A intron_variant LUSC-KR 2 136173521 136173521 single base substitution C A intron_variant LUSC-KR 2 136173796 136173796 single base substitution A C intron_variant LUSC-KR 2 136174102 136174102 single base substitution C T intron_variant LUSC-KR 2 136174917 136174917 single base substitution G C intron_variant LUSC-KR 2 136175586 136175586 single base substitution C T intron_variant LUSC-KR 2 136176281 136176281 single base substitution G C intron_variant LUSC-KR 2 136177094 136177094 single base substitution T G intron_variant LUSC-KR 2 136177798 136177798 single base substitution G A intron_variant LUSC-KR 2 136185407 136185407 single base substitution T A intron_variant LUSC-KR 2 136186721 136186721 single base substitution C G intron_variant LUSC-KR 2 136186885 136186885 single base substitution C G intron_variant LUSC-KR 2 136188222 136188222 single base substitution C A intron_variant LUSC-KR 2 136190018 136190018 single base substitution C G intron_variant LUSC-KR 2 136190943 136190943 single base substitution T A intron_variant LUSC-KR 2 136195009 136195009 single base substitution C A intron_variant LUSC-KR 2 136195132 136195132 single base substitution C A intron_variant LUSC-KR 2 136197230 136197230 single base substitution T A intron_variant LUSC-KR 2 136200488 136200488 single base substitution C A intron_variant LUSC-KR 2 136201365 136201365 single base substitution C T intron_variant LUSC-KR 2 136205985 136205985 single base substitution C A intron_variant LUSC-KR 2 136208285 136208285 single base substitution C A intron_variant LUSC-KR 2 136210720 136210720 single base substitution C T intron_variant LUSC-KR 2 136211340 136211340 single base substitution C A intron_variant LUSC-KR 2 136213159 136213159 single base substitution C T intron_variant LUSC-KR 2 136219977 136219977 single base substitution C A intron_variant LUSC-KR 2 136220155 136220155 single base substitution C G intron_variant LUSC-KR 2 136223071 136223071 single base substitution C G intron_variant LUSC-KR 2 136223161 136223161 single base substitution A C intron_variant LUSC-KR 2 136224230 136224230 single base substitution G A intron_variant LUSC-KR 2 136226199 136226199 single base substitution G A intron_variant LUSC-KR 2 136226576 136226576 single base substitution T C intron_variant LUSC-KR 2 136227207 136227207 single base substitution C A intron_variant LUSC-KR 2 136228199 136228199 single base substitution G A intron_variant LUSC-KR 2 136232202 136232202 single base substitution G C intron_variant LUSC-KR 2 136232252 136232252 single base substitution T C intron_variant LUSC-KR 2 136237742 136237742 single base substitution G C intron_variant LUSC-KR 2 136237904 136237904 single base substitution T A intron_variant LUSC-KR 2 136238515 136238515 single base substitution C G intron_variant LUSC-KR 2 136239564 136239564 single base substitution G T intron_variant LUSC-KR 2 136242745 136242745 single base substitution A T intron_variant LUSC-KR 2 136244952 136244952 single base substitution T A intron_variant LUSC-KR 2 136246622 136246622 single base substitution T A intron_variant LUSC-KR 2 136250880 136250880 single base substitution A C intron_variant LUSC-KR 2 136250947 136250947 single base substitution G T intron_variant LUSC-KR 2 136251894 136251894 single base substitution G A intron_variant LUSC-KR 2 136253713 136253713 single base substitution G A intron_variant LUSC-KR 2 136255701 136255701 single base substitution C A intron_variant LUSC-KR 2 136258038 136258038 single base substitution A G intron_variant LUSC-KR 2 136260139 136260139 single base substitution G C intron_variant LUSC-KR 2 136261562 136261562 single base substitution G A intron_variant LUSC-KR 2 136262019 136262019 single base substitution T A exon_variant LUSC-KR 2 136262019 136262019 single base substitution T A intron_variant LUSC-KR 2 136262019 136262019 single base substitution T A missense_variant H14L 41A>T LUSC-KR 2 136263299 136263299 single base substitution C T intron_variant LUSC-KR 2 136263713 136263713 single base substitution C A intron_variant LUSC-KR 2 136267798 136267798 single base substitution T A intron_variant LUSC-KR 2 136267808 136267808 single base substitution G A intron_variant LUSC-KR 2 136269048 136269048 single base substitution G A intron_variant LUSC-KR 2 136271046 136271046 single base substitution A T intron_variant LUSC-KR 2 136271332 136271332 single base substitution T C intron_variant LUSC-KR 2 136278898 136278898 single base substitution C A intron_variant LUSC-KR 2 136279102 136279102 single base substitution C A intron_variant LUSC-KR 2 136279495 136279495 single base substitution C A intron_variant LUSC-KR 2 136279496 136279496 single base substitution C A intron_variant LUSC-KR 2 136280746 136280746 single base substitution C T intron_variant LUSC-KR 2 136281161 136281161 single base substitution A T intron_variant LUSC-KR 2 136281591 136281591 single base substitution A T intron_variant LUSC-KR 2 136283138 136283138 single base substitution C A intron_variant LUSC-KR 2 136283752 136283752 single base substitution G T intron_variant LUSC-KR 2 136283785 136283785 single base substitution G T intron_variant LUSC-KR 2 136285960 136285960 single base substitution C A intron_variant LUSC-KR 2 136287207 136287207 single base substitution C A intron_variant LUSC-KR 2 136292375 136292375 single base substitution G T upstream_gene_variant LUSC-KR 2 136293247 136293247 single base substitution G T upstream_gene_variant LUSC-US 2 135893434 135893434 single base substitution C T downstream_gene_variant LUSC-US 2 135893449 135893449 single base substitution G C downstream_gene_variant LUSC-US 2 135911411 135911411 single base substitution A G intron_variant LUSC-US 2 135920135 135920135 single base substitution A T exon_variant LUSC-US 2 135965099 135965099 single base substitution C A 3_prime_UTR_variant LUSC-US 2 135965099 135965099 single base substitution C A exon_variant LUSC-US 2 135965099 135965099 single base substitution C A missense_variant A970S 2908G>T LUSC-US 2 135965099 135965099 single base substitution C A missense_variant A972S 2914G>T LUSC-US 2 135965099 135965099 single base substitution C A upstream_gene_variant LUSC-US 2 135965199 135965199 single base substitution C A 3_prime_UTR_variant LUSC-US 2 135965199 135965199 single base substitution C A exon_variant LUSC-US 2 135965199 135965199 single base substitution C A synonymous_variant L936L 2808G>T LUSC-US 2 135965199 135965199 single base substitution C A synonymous_variant L938L 2814G>T LUSC-US 2 135965199 135965199 single base substitution C A upstream_gene_variant LUSC-US 2 135966512 135966512 single base substitution C T 3_prime_UTR_variant LUSC-US 2 135966512 135966512 single base substitution C T exon_variant LUSC-US 2 135966512 135966512 single base substitution C T missense_variant M842I 2526G>A LUSC-US 2 135966512 135966512 single base substitution C T missense_variant M844I 2532G>A LUSC-US 2 135966512 135966512 single base substitution C T upstream_gene_variant LUSC-US 2 135975078 135975078 single base substitution C T 3_prime_UTR_variant LUSC-US 2 135975078 135975078 single base substitution C T exon_variant LUSC-US 2 135975078 135975078 single base substitution C T missense_variant E816K 2446G>A LUSC-US 2 135975078 135975078 single base substitution C T missense_variant E818K 2452G>A LUSC-US 2 135988217 135988217 single base substitution C A 3_prime_UTR_variant LUSC-US 2 135988217 135988217 single base substitution C A exon_variant LUSC-US 2 135988217 135988217 single base substitution C A missense_variant S607I 1820G>T LUSC-US 2 135988217 135988217 single base substitution C A upstream_gene_variant LUSC-US 2 135988481 135988481 single base substitution T C 3_prime_UTR_variant LUSC-US 2 135988481 135988481 single base substitution T C exon_variant LUSC-US 2 135988481 135988481 single base substitution T C missense_variant Q519R 1556A>G LUSC-US 2 135988481 135988481 single base substitution T C upstream_gene_variant LUSC-US 2 136107557 136107557 single base substitution T G downstream_gene_variant LUSC-US 2 136107557 136107557 single base substitution T G exon_variant LUSC-US 2 136107557 136107557 single base substitution T G missense_variant E196D 588A>C MALY-DE 2 135891188 135891188 single base substitution T C downstream_gene_variant MALY-DE 2 135904542 135904543 deletion of <=200bp AC - intron_variant MALY-DE 2 135909719 135909719 single base substitution T C intron_variant MALY-DE 2 135935846 135935846 single base substitution G A intron_variant MALY-DE 2 135936076 135936076 single base substitution A T intron_variant MALY-DE 2 135942615 135942615 single base substitution C G intron_variant MALY-DE 2 135947135 135947135 single base substitution T G intron_variant MALY-DE 2 135950166 135950166 single base substitution G T downstream_gene_variant MALY-DE 2 135950166 135950166 single base substitution G T intron_variant MALY-DE 2 135953449 135953449 single base substitution A C downstream_gene_variant MALY-DE 2 135953449 135953449 single base substitution A C intron_variant MALY-DE 2 135973398 135973398 single base substitution G T intron_variant MALY-DE 2 135980757 135980757 single base substitution G A downstream_gene_variant MALY-DE 2 135980757 135980757 single base substitution G A intron_variant MALY-DE 2 135985025 135985025 single base substitution T C intron_variant MALY-DE 2 135995974 135995974 single base substitution T A intron_variant MALY-DE 2 135997569 135997569 single base substitution T G intron_variant MALY-DE 2 135997569 135997569 single base substitution T G upstream_gene_variant MALY-DE 2 136010983 136010983 single base substitution C T intron_variant MALY-DE 2 136013449 136013449 single base substitution C T intron_variant MALY-DE 2 136027078 136027078 deletion of <=200bp G - intron_variant MALY-DE 2 136029970 136029970 single base substitution C G intron_variant MALY-DE 2 136034585 136034585 single base substitution T C intron_variant MALY-DE 2 136035824 136035824 single base substitution C A intron_variant MALY-DE 2 136055462 136055462 single base substitution T G intron_variant MALY-DE 2 136065979 136065979 single base substitution A T intron_variant MALY-DE 2 136071810 136071810 single base substitution A G intron_variant MALY-DE 2 136072876 136072876 single base substitution G A intron_variant MALY-DE 2 136079987 136079987 single base substitution C T intron_variant MALY-DE 2 136086440 136086440 single base substitution A G intron_variant MALY-DE 2 136089947 136089947 single base substitution G A intron_variant MALY-DE 2 136092169 136092169 single base substitution A G intron_variant MALY-DE 2 136092816 136092816 single base substitution T A intron_variant MALY-DE 2 136093467 136093467 single base substitution G A intron_variant MALY-DE 2 136093468 136093468 deletion of <=200bp A - intron_variant MALY-DE 2 136097211 136097211 single base substitution T A intron_variant MALY-DE 2 136097664 136097664 single base substitution T G intron_variant MALY-DE 2 136099397 136099397 single base substitution C T downstream_gene_variant MALY-DE 2 136099397 136099397 single base substitution C T intron_variant MALY-DE 2 136099568 136099568 single base substitution G T downstream_gene_variant MALY-DE 2 136099568 136099568 single base substitution G T intron_variant MALY-DE 2 136106720 136106720 single base substitution T G downstream_gene_variant MALY-DE 2 136106720 136106720 single base substitution T G intron_variant MALY-DE 2 136109444 136109444 single base substitution T G downstream_gene_variant MALY-DE 2 136109444 136109444 single base substitution T G intron_variant MALY-DE 2 136122108 136122108 single base substitution A G intron_variant MALY-DE 2 136125161 136125161 single base substitution A T intron_variant MALY-DE 2 136125702 136125702 single base substitution C T intron_variant MALY-DE 2 136125948 136125948 single base substitution A T intron_variant MALY-DE 2 136126942 136126942 single base substitution T G intron_variant MALY-DE 2 136127487 136127487 single base substitution T A intron_variant MALY-DE 2 136127496 136127496 single base substitution T C intron_variant MALY-DE 2 136127630 136127630 single base substitution T C intron_variant MALY-DE 2 136127897 136127897 single base substitution G A intron_variant MALY-DE 2 136128334 136128334 single base substitution G C intron_variant MALY-DE 2 136141575 136141575 single base substitution G A intron_variant MALY-DE 2 136152548 136152548 single base substitution A T intron_variant MALY-DE 2 136154152 136154152 single base substitution G A intron_variant MALY-DE 2 136163144 136163144 single base substitution A G intron_variant MALY-DE 2 136164752 136164755 deletion of <=200bp ACAA - intron_variant MALY-DE 2 136166524 136166524 single base substitution C T intron_variant MALY-DE 2 136171023 136171023 single base substitution T C intron_variant MALY-DE 2 136171024 136171024 single base substitution A T intron_variant MALY-DE 2 136209148 136209148 insertion of <=200bp - A intron_variant MALY-DE 2 136218653 136218653 single base substitution A C intron_variant MALY-DE 2 136220106 136220106 single base substitution T A intron_variant MALY-DE 2 136226533 136226533 single base substitution C T intron_variant MALY-DE 2 136230829 136230829 single base substitution T G intron_variant MALY-DE 2 136232580 136232580 single base substitution G C intron_variant MALY-DE 2 136235250 136235250 single base substitution T C intron_variant MALY-DE 2 136256101 136256101 single base substitution T G intron_variant MALY-DE 2 136264293 136264293 single base substitution T A intron_variant MALY-DE 2 136277400 136277400 single base substitution C A intron_variant MALY-DE 2 136279081 136279081 insertion of <=200bp - A intron_variant MALY-DE 2 136282139 136282139 single base substitution A T intron_variant MELA-AU 2 135889819 135889819 single base substitution C T downstream_gene_variant MELA-AU 2 135890210 135890210 single base substitution A C downstream_gene_variant MELA-AU 2 135890331 135890331 single base substitution A T downstream_gene_variant MELA-AU 2 135890449 135890449 single base substitution T C downstream_gene_variant MELA-AU 2 135890452 135890452 single base substitution C T downstream_gene_variant MELA-AU 2 135890474 135890474 single base substitution C T downstream_gene_variant MELA-AU 2 135890744 135890744 single base substitution C T downstream_gene_variant MELA-AU 2 135891071 135891071 single base substitution T C downstream_gene_variant MELA-AU 2 135893560 135893560 single base substitution C T downstream_gene_variant MELA-AU 2 135895175 135895175 single base substitution C G intron_variant MELA-AU 2 135895912 135895912 single base substitution C T intron_variant MELA-AU 2 135896180 135896180 single base substitution A T intron_variant MELA-AU 2 135896260 135896260 single base substitution C T intron_variant MELA-AU 2 135896285 135896285 single base substitution C T intron_variant MELA-AU 2 135896634 135896634 single base substitution C T intron_variant MELA-AU 2 135896640 135896640 single base substitution A T intron_variant MELA-AU 2 135896826 135896826 single base substitution C T intron_variant MELA-AU 2 135897784 135897784 single base substitution C T intron_variant MELA-AU 2 135897825 135897825 single base substitution C T intron_variant MELA-AU 2 135897838 135897838 single base substitution T C intron_variant MELA-AU 2 135897994 135897994 single base substitution C T intron_variant MELA-AU 2 135898547 135898547 single base substitution T A intron_variant MELA-AU 2 135898624 135898624 single base substitution C T intron_variant MELA-AU 2 135899549 135899549 single base substitution C T intron_variant MELA-AU 2 135899927 135899927 single base substitution A T intron_variant MELA-AU 2 135900278 135900278 single base substitution C T intron_variant MELA-AU 2 135900343 135900343 single base substitution C T intron_variant MELA-AU 2 135900947 135900947 single base substitution C T intron_variant MELA-AU 2 135902322 135902322 single base substitution C T intron_variant MELA-AU 2 135903086 135903086 single base substitution T C intron_variant MELA-AU 2 135903138 135903138 single base substitution C T intron_variant MELA-AU 2 135904328 135904328 single base substitution C T intron_variant MELA-AU 2 135905178 135905178 single base substitution A G intron_variant MELA-AU 2 135905194 135905194 single base substitution C T intron_variant MELA-AU 2 135906105 135906105 single base substitution C T intron_variant MELA-AU 2 135906188 135906188 single base substitution C T intron_variant MELA-AU 2 135906278 135906278 single base substitution C T intron_variant MELA-AU 2 135906431 135906431 single base substitution C T intron_variant MELA-AU 2 135906787 135906787 single base substitution A T intron_variant MELA-AU 2 135907322 135907322 single base substitution C T intron_variant MELA-AU 2 135907889 135907889 single base substitution C T intron_variant MELA-AU 2 135908676 135908676 single base substitution C T intron_variant MELA-AU 2 135909827 135909827 single base substitution G A intron_variant MELA-AU 2 135910664 135910664 single base substitution A G intron_variant MELA-AU 2 135911197 135911197 single base substitution G A intron_variant MELA-AU 2 135911396 135911396 single base substitution C T intron_variant MELA-AU 2 135911504 135911504 single base substitution G A intron_variant MELA-AU 2 135912693 135912693 single base substitution G A intron_variant MELA-AU 2 135912743 135912743 single base substitution C T intron_variant MELA-AU 2 135913386 135913386 single base substitution A G intron_variant MELA-AU 2 135913473 135913473 single base substitution T C intron_variant MELA-AU 2 135915199 135915199 single base substitution C T intron_variant MELA-AU 2 135915396 135915396 single base substitution C T intron_variant MELA-AU 2 135915528 135915530 multiple base substitution (>=2bp and <=200bp) AAC TTT intron_variant MELA-AU 2 135916055 135916055 single base substitution C T intron_variant MELA-AU 2 135916297 135916297 single base substitution C T intron_variant MELA-AU 2 135917010 135917010 single base substitution C T intron_variant MELA-AU 2 135918558 135918558 single base substitution G A intron_variant MELA-AU 2 135921664 135921664 single base substitution A T intron_variant MELA-AU 2 135921929 135921929 single base substitution G A intron_variant MELA-AU 2 135923243 135923243 single base substitution C T intron_variant MELA-AU 2 135923439 135923439 single base substitution C T intron_variant MELA-AU 2 135924330 135924330 single base substitution A C intron_variant MELA-AU 2 135924728 135924728 single base substitution C T intron_variant MELA-AU 2 135925822 135925822 single base substitution C T intron_variant MELA-AU 2 135925862 135925862 single base substitution C T intron_variant MELA-AU 2 135926222 135926222 single base substitution C T intron_variant MELA-AU 2 135926341 135926341 single base substitution C T intron_variant MELA-AU 2 135926395 135926395 single base substitution C T intron_variant MELA-AU 2 135926400 135926400 single base substitution C T intron_variant MELA-AU 2 135926937 135926937 single base substitution C T intron_variant MELA-AU 2 135927331 135927332 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 135927334 135927334 single base substitution C T intron_variant MELA-AU 2 135928006 135928006 single base substitution C T intron_variant MELA-AU 2 135928120 135928120 single base substitution T C intron_variant MELA-AU 2 135928915 135928915 single base substitution G C intron_variant MELA-AU 2 135928931 135928931 single base substitution A T intron_variant MELA-AU 2 135929045 135929045 single base substitution C T intron_variant MELA-AU 2 135929069 135929069 single base substitution C T intron_variant MELA-AU 2 135929580 135929580 single base substitution G A intron_variant MELA-AU 2 135929712 135929712 single base substitution C T intron_variant MELA-AU 2 135930664 135930664 single base substitution C T intron_variant MELA-AU 2 135931937 135931937 single base substitution C T intron_variant MELA-AU 2 135931963 135931963 single base substitution G T intron_variant MELA-AU 2 135931985 135931985 single base substitution C T intron_variant MELA-AU 2 135933788 135933788 single base substitution A T intron_variant MELA-AU 2 135934003 135934003 single base substitution C T intron_variant MELA-AU 2 135934043 135934043 single base substitution G A intron_variant MELA-AU 2 135934274 135934274 single base substitution A T intron_variant MELA-AU 2 135935257 135935257 single base substitution C T intron_variant MELA-AU 2 135935343 135935343 single base substitution C T intron_variant MELA-AU 2 135936584 135936584 single base substitution C T intron_variant MELA-AU 2 135937009 135937009 single base substitution C T intron_variant MELA-AU 2 135937019 135937019 single base substitution C T intron_variant MELA-AU 2 135937035 135937035 single base substitution G T intron_variant MELA-AU 2 135937224 135937224 single base substitution C T intron_variant MELA-AU 2 135937412 135937412 single base substitution G A intron_variant MELA-AU 2 135937529 135937529 single base substitution C T intron_variant MELA-AU 2 135938039 135938039 single base substitution G T intron_variant MELA-AU 2 135938471 135938471 single base substitution C T intron_variant MELA-AU 2 135938965 135938965 single base substitution G T intron_variant MELA-AU 2 135939197 135939197 single base substitution A C intron_variant MELA-AU 2 135939674 135939674 single base substitution C T intron_variant MELA-AU 2 135939936 135939936 single base substitution G A intron_variant MELA-AU 2 135939956 135939956 single base substitution C T intron_variant MELA-AU 2 135939979 135939979 single base substitution C T intron_variant MELA-AU 2 135940095 135940095 single base substitution C T intron_variant MELA-AU 2 135940369 135940369 single base substitution A T intron_variant MELA-AU 2 135942594 135942594 single base substitution G A intron_variant MELA-AU 2 135942791 135942791 single base substitution C T intron_variant MELA-AU 2 135942967 135942967 single base substitution A G intron_variant MELA-AU 2 135943592 135943592 single base substitution T C intron_variant MELA-AU 2 135943660 135943660 single base substitution T A intron_variant MELA-AU 2 135944129 135944129 single base substitution C T intron_variant MELA-AU 2 135944859 135944859 single base substitution C T intron_variant MELA-AU 2 135944962 135944962 single base substitution C T intron_variant MELA-AU 2 135945248 135945248 single base substitution T C intron_variant MELA-AU 2 135945356 135945356 single base substitution C T intron_variant MELA-AU 2 135945377 135945377 single base substitution C T intron_variant MELA-AU 2 135945515 135945515 single base substitution G A intron_variant MELA-AU 2 135945578 135945578 single base substitution G A intron_variant MELA-AU 2 135945944 135945944 single base substitution G A intron_variant MELA-AU 2 135946080 135946080 single base substitution G A intron_variant MELA-AU 2 135946881 135946881 single base substitution C T intron_variant MELA-AU 2 135947233 135947233 single base substitution G A intron_variant MELA-AU 2 135947660 135947661 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 2 135948077 135948077 single base substitution C T intron_variant MELA-AU 2 135948078 135948078 single base substitution C T intron_variant MELA-AU 2 135948141 135948141 single base substitution C A intron_variant MELA-AU 2 135948451 135948451 single base substitution G A intron_variant MELA-AU 2 135948838 135948838 single base substitution A T intron_variant MELA-AU 2 135949155 135949155 single base substitution C T intron_variant MELA-AU 2 135949183 135949183 single base substitution A T intron_variant MELA-AU 2 135949200 135949200 single base substitution C T intron_variant MELA-AU 2 135950675 135950675 single base substitution A T downstream_gene_variant MELA-AU 2 135950675 135950675 single base substitution A T intron_variant MELA-AU 2 135950889 135950889 single base substitution C A downstream_gene_variant MELA-AU 2 135950889 135950889 single base substitution C A intron_variant MELA-AU 2 135951312 135951312 single base substitution G A downstream_gene_variant MELA-AU 2 135951312 135951312 single base substitution G A intron_variant MELA-AU 2 135951680 135951680 single base substitution C T downstream_gene_variant MELA-AU 2 135951680 135951680 single base substitution C T intron_variant MELA-AU 2 135951744 135951744 single base substitution G A downstream_gene_variant MELA-AU 2 135951744 135951744 single base substitution G A intron_variant MELA-AU 2 135951751 135951751 single base substitution C T downstream_gene_variant MELA-AU 2 135951751 135951751 single base substitution C T intron_variant MELA-AU 2 135952004 135952004 single base substitution G A downstream_gene_variant MELA-AU 2 135952004 135952004 single base substitution G A intron_variant MELA-AU 2 135952150 135952150 single base substitution G A downstream_gene_variant MELA-AU 2 135952150 135952150 single base substitution G A intron_variant MELA-AU 2 135952315 135952315 single base substitution G A downstream_gene_variant MELA-AU 2 135952315 135952315 single base substitution G A intron_variant MELA-AU 2 135952443 135952443 single base substitution G A downstream_gene_variant MELA-AU 2 135952443 135952443 single base substitution G A intron_variant MELA-AU 2 135952851 135952851 single base substitution C T downstream_gene_variant MELA-AU 2 135952851 135952851 single base substitution C T intron_variant MELA-AU 2 135953932 135953932 single base substitution G A downstream_gene_variant MELA-AU 2 135953932 135953932 single base substitution G A intron_variant MELA-AU 2 135953933 135953933 single base substitution G A downstream_gene_variant MELA-AU 2 135953933 135953933 single base substitution G A intron_variant MELA-AU 2 135954135 135954135 single base substitution C T downstream_gene_variant MELA-AU 2 135954135 135954135 single base substitution C T intron_variant MELA-AU 2 135954184 135954184 single base substitution G A downstream_gene_variant MELA-AU 2 135954184 135954184 single base substitution G A intron_variant MELA-AU 2 135954232 135954232 single base substitution G A downstream_gene_variant MELA-AU 2 135954232 135954232 single base substitution G A intron_variant MELA-AU 2 135955225 135955225 single base substitution G A 3_prime_UTR_variant MELA-AU 2 135955225 135955225 single base substitution G A downstream_gene_variant MELA-AU 2 135955225 135955225 single base substitution G A intron_variant MELA-AU 2 135955521 135955521 single base substitution T A 3_prime_UTR_variant MELA-AU 2 135955521 135955521 single base substitution T A downstream_gene_variant MELA-AU 2 135955521 135955521 single base substitution T A intron_variant MELA-AU 2 135955581 135955581 single base substitution C T 3_prime_UTR_variant MELA-AU 2 135955581 135955581 single base substitution C T downstream_gene_variant MELA-AU 2 135955581 135955581 single base substitution C T intron_variant MELA-AU 2 135955806 135955806 single base substitution G A 3_prime_UTR_variant MELA-AU 2 135955806 135955806 single base substitution G A downstream_gene_variant MELA-AU 2 135955806 135955806 single base substitution G A intron_variant MELA-AU 2 135955844 135955844 single base substitution G A 3_prime_UTR_variant MELA-AU 2 135955844 135955844 single base substitution G A downstream_gene_variant MELA-AU 2 135955844 135955844 single base substitution G A intron_variant MELA-AU 2 135956507 135956507 single base substitution A T 3_prime_UTR_variant MELA-AU 2 135956507 135956507 single base substitution A T downstream_gene_variant MELA-AU 2 135956507 135956507 single base substitution A T intron_variant MELA-AU 2 135956573 135956573 single base substitution C T 3_prime_UTR_variant MELA-AU 2 135956573 135956573 single base substitution C T downstream_gene_variant MELA-AU 2 135956573 135956573 single base substitution C T intron_variant MELA-AU 2 135956976 135956976 single base substitution C T 3_prime_UTR_variant MELA-AU 2 135956976 135956976 single base substitution C T downstream_gene_variant MELA-AU 2 135956976 135956976 single base substitution C T intron_variant MELA-AU 2 135957255 135957256 multiple base substitution (>=2bp and <=200bp) TA GT 3_prime_UTR_variant MELA-AU 2 135957255 135957256 multiple base substitution (>=2bp and <=200bp) TA GT downstream_gene_variant MELA-AU 2 135957255 135957256 multiple base substitution (>=2bp and <=200bp) TA GT intron_variant MELA-AU 2 135957692 135957692 single base substitution A T 3_prime_UTR_variant MELA-AU 2 135957692 135957692 single base substitution A T downstream_gene_variant MELA-AU 2 135957692 135957692 single base substitution A T intron_variant MELA-AU 2 135957854 135957854 single base substitution C T 3_prime_UTR_variant MELA-AU 2 135957854 135957854 single base substitution C T downstream_gene_variant MELA-AU 2 135957854 135957854 single base substitution C T intron_variant MELA-AU 2 135958592 135958592 single base substitution G A downstream_gene_variant MELA-AU 2 135958592 135958592 single base substitution G A intron_variant MELA-AU 2 135958657 135958657 single base substitution C T downstream_gene_variant MELA-AU 2 135958657 135958657 single base substitution C T intron_variant MELA-AU 2 135958886 135958886 single base substitution G A downstream_gene_variant MELA-AU 2 135958886 135958886 single base substitution G A intron_variant MELA-AU 2 135959467 135959467 single base substitution G A downstream_gene_variant MELA-AU 2 135959467 135959467 single base substitution G A intron_variant MELA-AU 2 135959850 135959850 single base substitution A G downstream_gene_variant MELA-AU 2 135959850 135959850 single base substitution A G intron_variant MELA-AU 2 135960208 135960208 single base substitution G A exon_variant MELA-AU 2 135960208 135960208 single base substitution G A intron_variant MELA-AU 2 135960445 135960445 single base substitution G A 3_prime_UTR_variant MELA-AU 2 135960445 135960445 single base substitution G A exon_variant MELA-AU 2 135960445 135960445 single base substitution G A missense_variant S1031F 3092C>T MELA-AU 2 135960445 135960445 single base substitution G A missense_variant S1033F 3098C>T MELA-AU 2 135960626 135960626 single base substitution G A intron_variant MELA-AU 2 135960886 135960886 single base substitution G A intron_variant MELA-AU 2 135961443 135961443 single base substitution G A intron_variant MELA-AU 2 135961914 135961914 single base substitution C T intron_variant MELA-AU 2 135962705 135962705 single base substitution C T intron_variant MELA-AU 2 135962717 135962717 single base substitution A T intron_variant MELA-AU 2 135962836 135962836 single base substitution T C intron_variant MELA-AU 2 135963073 135963073 single base substitution C T intron_variant MELA-AU 2 135963225 135963225 single base substitution G A intron_variant MELA-AU 2 135963425 135963425 single base substitution T C intron_variant MELA-AU 2 135963553 135963553 single base substitution G A intron_variant MELA-AU 2 135963776 135963776 single base substitution T C intron_variant MELA-AU 2 135964020 135964020 single base substitution G A intron_variant MELA-AU 2 135964114 135964114 single base substitution G A intron_variant MELA-AU 2 135964247 135964247 single base substitution G A intron_variant MELA-AU 2 135964274 135964274 single base substitution G A intron_variant MELA-AU 2 135964564 135964564 single base substitution G A intron_variant MELA-AU 2 135964886 135964886 single base substitution T A intron_variant MELA-AU 2 135965290 135965290 single base substitution C T 3_prime_UTR_variant MELA-AU 2 135965290 135965290 single base substitution C T exon_variant MELA-AU 2 135965290 135965290 single base substitution C T missense_variant G906E 2717G>A MELA-AU 2 135965290 135965290 single base substitution C T missense_variant G908E 2723G>A MELA-AU 2 135965290 135965290 single base substitution C T upstream_gene_variant MELA-AU 2 135965575 135965575 single base substitution G A intron_variant MELA-AU 2 135965575 135965575 single base substitution G A upstream_gene_variant MELA-AU 2 135965873 135965873 single base substitution A G intron_variant MELA-AU 2 135965873 135965873 single base substitution A G upstream_gene_variant MELA-AU 2 135965886 135965886 single base substitution G A intron_variant MELA-AU 2 135965886 135965886 single base substitution G A upstream_gene_variant MELA-AU 2 135966224 135966224 single base substitution G A intron_variant MELA-AU 2 135966224 135966224 single base substitution G A upstream_gene_variant MELA-AU 2 135966271 135966271 single base substitution G A intron_variant MELA-AU 2 135966271 135966271 single base substitution G A upstream_gene_variant MELA-AU 2 135966578 135966578 single base substitution C T intron_variant MELA-AU 2 135966578 135966578 single base substitution C T upstream_gene_variant MELA-AU 2 135966888 135966889 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 135966888 135966889 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 135967323 135967323 single base substitution G A intron_variant MELA-AU 2 135967323 135967323 single base substitution G A upstream_gene_variant MELA-AU 2 135968093 135968093 single base substitution G A intron_variant MELA-AU 2 135968093 135968093 single base substitution G A upstream_gene_variant MELA-AU 2 135968311 135968311 single base substitution C T intron_variant MELA-AU 2 135968311 135968311 single base substitution C T upstream_gene_variant MELA-AU 2 135968581 135968581 single base substitution A G intron_variant MELA-AU 2 135968581 135968581 single base substitution A G upstream_gene_variant MELA-AU 2 135968615 135968615 single base substitution G A intron_variant MELA-AU 2 135968615 135968615 single base substitution G A upstream_gene_variant MELA-AU 2 135968623 135968623 single base substitution A G intron_variant MELA-AU 2 135968623 135968623 single base substitution A G upstream_gene_variant MELA-AU 2 135968806 135968806 single base substitution C T intron_variant MELA-AU 2 135968806 135968806 single base substitution C T upstream_gene_variant MELA-AU 2 135969040 135969040 single base substitution G A intron_variant MELA-AU 2 135969040 135969040 single base substitution G A upstream_gene_variant MELA-AU 2 135969373 135969373 single base substitution T C intron_variant MELA-AU 2 135969373 135969373 single base substitution T C upstream_gene_variant MELA-AU 2 135969403 135969403 single base substitution C T intron_variant MELA-AU 2 135969403 135969403 single base substitution C T upstream_gene_variant MELA-AU 2 135969670 135969670 single base substitution G A intron_variant MELA-AU 2 135969670 135969670 single base substitution G A upstream_gene_variant MELA-AU 2 135969962 135969962 single base substitution G A intron_variant MELA-AU 2 135969962 135969962 single base substitution G A upstream_gene_variant MELA-AU 2 135970122 135970122 single base substitution G A intron_variant MELA-AU 2 135970394 135970394 single base substitution G A intron_variant MELA-AU 2 135970623 135970623 single base substitution G A intron_variant MELA-AU 2 135970719 135970719 single base substitution G A intron_variant MELA-AU 2 135970962 135970962 single base substitution G A intron_variant MELA-AU 2 135971296 135971296 single base substitution A G intron_variant MELA-AU 2 135971414 135971414 single base substitution G A intron_variant MELA-AU 2 135971485 135971485 single base substitution G A intron_variant MELA-AU 2 135971506 135971506 single base substitution G C intron_variant MELA-AU 2 135971840 135971840 single base substitution C T intron_variant MELA-AU 2 135971989 135971989 single base substitution G A intron_variant MELA-AU 2 135972248 135972248 single base substitution A C intron_variant MELA-AU 2 135972613 135972613 single base substitution G A intron_variant MELA-AU 2 135972651 135972651 single base substitution C T intron_variant MELA-AU 2 135973193 135973193 single base substitution G A intron_variant MELA-AU 2 135973314 135973314 single base substitution C T intron_variant MELA-AU 2 135973336 135973336 single base substitution C T intron_variant MELA-AU 2 135973592 135973592 single base substitution C T intron_variant MELA-AU 2 135973702 135973702 single base substitution C G intron_variant MELA-AU 2 135973770 135973770 single base substitution G A intron_variant MELA-AU 2 135973817 135973817 single base substitution C T intron_variant MELA-AU 2 135973819 135973819 single base substitution C T intron_variant MELA-AU 2 135973846 135973846 single base substitution G A intron_variant MELA-AU 2 135973963 135973963 single base substitution G A intron_variant MELA-AU 2 135974279 135974279 single base substitution G A intron_variant MELA-AU 2 135974643 135974643 single base substitution A C intron_variant MELA-AU 2 135975121 135975121 single base substitution G A 3_prime_UTR_variant MELA-AU 2 135975121 135975121 single base substitution G A exon_variant MELA-AU 2 135975121 135975121 single base substitution G A synonymous_variant I801I 2403C>T MELA-AU 2 135975121 135975121 single base substitution G A synonymous_variant I803I 2409C>T MELA-AU 2 135975350 135975350 single base substitution T C intron_variant MELA-AU 2 135975708 135975708 single base substitution C T intron_variant MELA-AU 2 135975995 135975995 single base substitution G A intron_variant MELA-AU 2 135976691 135976691 single base substitution C T 3_prime_UTR_variant MELA-AU 2 135976691 135976691 single base substitution C T exon_variant MELA-AU 2 135976691 135976691 single base substitution C T missense_variant E768K 2302G>A MELA-AU 2 135976691 135976691 single base substitution C T missense_variant E770K 2308G>A MELA-AU 2 135976780 135976780 single base substitution C T intron_variant MELA-AU 2 135976934 135976934 single base substitution A G intron_variant MELA-AU 2 135976971 135976971 single base substitution C T intron_variant MELA-AU 2 135977262 135977262 single base substitution G A downstream_gene_variant MELA-AU 2 135977262 135977262 single base substitution G A intron_variant MELA-AU 2 135978052 135978052 single base substitution G A downstream_gene_variant MELA-AU 2 135978052 135978052 single base substitution G A intron_variant MELA-AU 2 135978418 135978418 single base substitution C A downstream_gene_variant MELA-AU 2 135978418 135978418 single base substitution C A intron_variant MELA-AU 2 135978745 135978745 single base substitution G A downstream_gene_variant MELA-AU 2 135978745 135978745 single base substitution G A intron_variant MELA-AU 2 135978751 135978751 single base substitution A T downstream_gene_variant MELA-AU 2 135978751 135978751 single base substitution A T intron_variant MELA-AU 2 135978754 135978754 single base substitution G A downstream_gene_variant MELA-AU 2 135978754 135978754 single base substitution G A intron_variant MELA-AU 2 135978924 135978924 single base substitution C T downstream_gene_variant MELA-AU 2 135978924 135978924 single base substitution C T intron_variant MELA-AU 2 135979553 135979553 single base substitution G A downstream_gene_variant MELA-AU 2 135979553 135979553 single base substitution G A intron_variant MELA-AU 2 135979757 135979757 single base substitution G A downstream_gene_variant MELA-AU 2 135979757 135979757 single base substitution G A intron_variant MELA-AU 2 135979865 135979865 single base substitution G T downstream_gene_variant MELA-AU 2 135979865 135979865 single base substitution G T intron_variant MELA-AU 2 135979918 135979918 single base substitution A G downstream_gene_variant MELA-AU 2 135979918 135979918 single base substitution A G intron_variant MELA-AU 2 135979993 135979993 single base substitution T A downstream_gene_variant MELA-AU 2 135979993 135979993 single base substitution T A intron_variant MELA-AU 2 135980210 135980210 single base substitution G A downstream_gene_variant MELA-AU 2 135980210 135980210 single base substitution G A intron_variant MELA-AU 2 135980363 135980363 single base substitution T C downstream_gene_variant MELA-AU 2 135980363 135980363 single base substitution T C intron_variant MELA-AU 2 135980472 135980472 single base substitution G A downstream_gene_variant MELA-AU 2 135980472 135980472 single base substitution G A intron_variant MELA-AU 2 135980826 135980826 single base substitution A C downstream_gene_variant MELA-AU 2 135980826 135980826 single base substitution A C intron_variant MELA-AU 2 135980898 135980898 single base substitution A C downstream_gene_variant MELA-AU 2 135980898 135980898 single base substitution A C intron_variant MELA-AU 2 135981033 135981033 single base substitution T A downstream_gene_variant MELA-AU 2 135981033 135981033 single base substitution T A intron_variant MELA-AU 2 135981481 135981481 single base substitution A G downstream_gene_variant MELA-AU 2 135981481 135981481 single base substitution A G intron_variant MELA-AU 2 135981694 135981694 single base substitution A C downstream_gene_variant MELA-AU 2 135981694 135981694 single base substitution A C intron_variant MELA-AU 2 135981884 135981884 single base substitution G A downstream_gene_variant MELA-AU 2 135981884 135981884 single base substitution G A intron_variant MELA-AU 2 135981942 135981942 single base substitution G A downstream_gene_variant MELA-AU 2 135981942 135981942 single base substitution G A intron_variant MELA-AU 2 135982151 135982151 single base substitution T A intron_variant MELA-AU 2 135982260 135982260 single base substitution G A intron_variant MELA-AU 2 135982430 135982430 single base substitution C T intron_variant MELA-AU 2 135982501 135982501 single base substitution G A intron_variant MELA-AU 2 135983003 135983003 single base substitution G A intron_variant MELA-AU 2 135983578 135983578 single base substitution A T intron_variant MELA-AU 2 135983694 135983694 single base substitution C T intron_variant MELA-AU 2 135984025 135984025 single base substitution C T intron_variant MELA-AU 2 135984135 135984135 single base substitution C T intron_variant MELA-AU 2 135984567 135984567 single base substitution G A intron_variant MELA-AU 2 135984729 135984729 single base substitution G A intron_variant MELA-AU 2 135984776 135984776 single base substitution G A intron_variant MELA-AU 2 135985023 135985023 single base substitution T C intron_variant MELA-AU 2 135985101 135985101 single base substitution G A intron_variant MELA-AU 2 135985374 135985374 single base substitution A C intron_variant MELA-AU 2 135985374 135985374 single base substitution A C splice_region_variant MELA-AU 2 135985515 135985515 single base substitution G A 3_prime_UTR_variant MELA-AU 2 135985515 135985515 single base substitution G A exon_variant MELA-AU 2 135985515 135985515 single base substitution G A synonymous_variant S675S 2025C>T MELA-AU 2 135986268 135986268 single base substitution C T intron_variant MELA-AU 2 135986268 135986268 single base substitution C T upstream_gene_variant MELA-AU 2 135986521 135986521 single base substitution G A intron_variant MELA-AU 2 135986521 135986521 single base substitution G A upstream_gene_variant MELA-AU 2 135986839 135986839 single base substitution C T intron_variant MELA-AU 2 135986839 135986839 single base substitution C T upstream_gene_variant MELA-AU 2 135987395 135987395 single base substitution G A intron_variant MELA-AU 2 135987395 135987395 single base substitution G A upstream_gene_variant MELA-AU 2 135987507 135987507 single base substitution C T intron_variant MELA-AU 2 135987507 135987507 single base substitution C T upstream_gene_variant MELA-AU 2 135987701 135987701 single base substitution C T intron_variant MELA-AU 2 135987701 135987701 single base substitution C T upstream_gene_variant MELA-AU 2 135987727 135987727 single base substitution G A intron_variant MELA-AU 2 135987727 135987727 single base substitution G A upstream_gene_variant MELA-AU 2 135987893 135987893 single base substitution G A intron_variant MELA-AU 2 135987893 135987893 single base substitution G A upstream_gene_variant MELA-AU 2 135987975 135987975 single base substitution T C intron_variant MELA-AU 2 135987975 135987975 single base substitution T C upstream_gene_variant MELA-AU 2 135988225 135988225 single base substitution G A 3_prime_UTR_variant MELA-AU 2 135988225 135988225 single base substitution G A exon_variant MELA-AU 2 135988225 135988225 single base substitution G A synonymous_variant L604L 1812C>T MELA-AU 2 135988225 135988225 single base substitution G A upstream_gene_variant MELA-AU 2 135988271 135988271 single base substitution G A 3_prime_UTR_variant MELA-AU 2 135988271 135988271 single base substitution G A exon_variant MELA-AU 2 135988271 135988271 single base substitution G A missense_variant P589L 1766C>T MELA-AU 2 135988271 135988271 single base substitution G A upstream_gene_variant MELA-AU 2 135988312 135988312 single base substitution C T 3_prime_UTR_variant MELA-AU 2 135988312 135988312 single base substitution C T exon_variant MELA-AU 2 135988312 135988312 single base substitution C T synonymous_variant T575T 1725G>A MELA-AU 2 135988312 135988312 single base substitution C T upstream_gene_variant MELA-AU 2 135988470 135988470 single base substitution G A 3_prime_UTR_variant MELA-AU 2 135988470 135988470 single base substitution G A exon_variant MELA-AU 2 135988470 135988470 single base substitution G A stop_gained R523* 1567C>T MELA-AU 2 135988470 135988470 single base substitution G A upstream_gene_variant MELA-AU 2 135988694 135988694 single base substitution C T intron_variant MELA-AU 2 135988694 135988694 single base substitution C T upstream_gene_variant MELA-AU 2 135988904 135988904 single base substitution G A intron_variant MELA-AU 2 135988904 135988904 single base substitution G A upstream_gene_variant MELA-AU 2 135989037 135989037 deletion of <=200bp G - intron_variant MELA-AU 2 135989037 135989037 deletion of <=200bp G - upstream_gene_variant MELA-AU 2 135989149 135989149 single base substitution G A intron_variant MELA-AU 2 135989149 135989149 single base substitution G A upstream_gene_variant MELA-AU 2 135989291 135989291 single base substitution G A intron_variant MELA-AU 2 135989291 135989291 single base substitution G A upstream_gene_variant MELA-AU 2 135989559 135989559 single base substitution G A intron_variant MELA-AU 2 135989559 135989559 single base substitution G A upstream_gene_variant MELA-AU 2 135989595 135989595 single base substitution G A intron_variant MELA-AU 2 135989595 135989595 single base substitution G A upstream_gene_variant MELA-AU 2 135989708 135989708 single base substitution G A intron_variant MELA-AU 2 135989708 135989708 single base substitution G A upstream_gene_variant MELA-AU 2 135990153 135990153 single base substitution C T intron_variant MELA-AU 2 135990153 135990153 single base substitution C T upstream_gene_variant MELA-AU 2 135990179 135990179 single base substitution G A intron_variant MELA-AU 2 135990179 135990179 single base substitution G A upstream_gene_variant MELA-AU 2 135990438 135990438 single base substitution A T intron_variant MELA-AU 2 135990438 135990438 single base substitution A T upstream_gene_variant MELA-AU 2 135990477 135990477 single base substitution G A intron_variant MELA-AU 2 135990477 135990477 single base substitution G A upstream_gene_variant MELA-AU 2 135990496 135990496 single base substitution G A intron_variant MELA-AU 2 135990496 135990496 single base substitution G A upstream_gene_variant MELA-AU 2 135990510 135990510 single base substitution G A intron_variant MELA-AU 2 135990510 135990510 single base substitution G A upstream_gene_variant MELA-AU 2 135990573 135990573 single base substitution G A intron_variant MELA-AU 2 135990573 135990573 single base substitution G A upstream_gene_variant MELA-AU 2 135990628 135990628 single base substitution G A intron_variant MELA-AU 2 135990628 135990628 single base substitution G A upstream_gene_variant MELA-AU 2 135990801 135990801 single base substitution G A intron_variant MELA-AU 2 135990801 135990801 single base substitution G A upstream_gene_variant MELA-AU 2 135990916 135990916 single base substitution G A intron_variant MELA-AU 2 135991360 135991360 single base substitution G A intron_variant MELA-AU 2 135991661 135991661 single base substitution G A intron_variant MELA-AU 2 135991973 135991973 single base substitution A G intron_variant MELA-AU 2 135992370 135992370 single base substitution G A intron_variant MELA-AU 2 135992544 135992544 single base substitution C T intron_variant MELA-AU 2 135994047 135994047 single base substitution C T intron_variant MELA-AU 2 135994366 135994366 single base substitution G A intron_variant MELA-AU 2 135994484 135994485 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 135994503 135994503 single base substitution G A intron_variant MELA-AU 2 135995336 135995336 single base substitution G A intron_variant MELA-AU 2 135996172 135996172 single base substitution G A intron_variant MELA-AU 2 135996282 135996282 single base substitution C T intron_variant MELA-AU 2 135996576 135996576 single base substitution A G intron_variant MELA-AU 2 135996576 135996576 single base substitution A G upstream_gene_variant MELA-AU 2 135996683 135996683 single base substitution G A intron_variant MELA-AU 2 135996683 135996683 single base substitution G A upstream_gene_variant MELA-AU 2 135996791 135996791 single base substitution G A intron_variant MELA-AU 2 135996791 135996791 single base substitution G A upstream_gene_variant MELA-AU 2 135997004 135997004 single base substitution G A intron_variant MELA-AU 2 135997004 135997004 single base substitution G A upstream_gene_variant MELA-AU 2 135997132 135997132 single base substitution G C intron_variant MELA-AU 2 135997132 135997132 single base substitution G C upstream_gene_variant MELA-AU 2 135997236 135997236 single base substitution G A intron_variant MELA-AU 2 135997236 135997236 single base substitution G A upstream_gene_variant MELA-AU 2 135997382 135997382 single base substitution C T intron_variant MELA-AU 2 135997382 135997382 single base substitution C T upstream_gene_variant MELA-AU 2 135997528 135997528 single base substitution G A intron_variant MELA-AU 2 135997528 135997528 single base substitution G A upstream_gene_variant MELA-AU 2 135997597 135997597 single base substitution G A intron_variant MELA-AU 2 135997597 135997597 single base substitution G A upstream_gene_variant MELA-AU 2 135997735 135997735 single base substitution G A intron_variant MELA-AU 2 135997735 135997735 single base substitution G A upstream_gene_variant MELA-AU 2 135997739 135997739 single base substitution C G intron_variant MELA-AU 2 135997739 135997739 single base substitution C G upstream_gene_variant MELA-AU 2 135997795 135997795 single base substitution C T intron_variant MELA-AU 2 135997795 135997795 single base substitution C T upstream_gene_variant MELA-AU 2 135997914 135997914 single base substitution G A intron_variant MELA-AU 2 135997914 135997914 single base substitution G A upstream_gene_variant MELA-AU 2 135997914 135997914 single base substitution G C intron_variant MELA-AU 2 135997914 135997914 single base substitution G C upstream_gene_variant MELA-AU 2 135998078 135998078 single base substitution C T intron_variant MELA-AU 2 135998078 135998078 single base substitution C T upstream_gene_variant MELA-AU 2 135998283 135998283 single base substitution G A intron_variant MELA-AU 2 135998283 135998283 single base substitution G A upstream_gene_variant MELA-AU 2 135998724 135998724 single base substitution C A intron_variant MELA-AU 2 135998724 135998724 single base substitution C A upstream_gene_variant MELA-AU 2 135998819 135998819 single base substitution C T intron_variant MELA-AU 2 135998819 135998819 single base substitution C T upstream_gene_variant MELA-AU 2 135999036 135999036 single base substitution G A intron_variant MELA-AU 2 135999036 135999036 single base substitution G A upstream_gene_variant MELA-AU 2 135999075 135999075 single base substitution C T intron_variant MELA-AU 2 135999075 135999075 single base substitution C T upstream_gene_variant MELA-AU 2 135999142 135999142 single base substitution G A intron_variant MELA-AU 2 135999142 135999142 single base substitution G A upstream_gene_variant MELA-AU 2 135999160 135999160 single base substitution G A intron_variant MELA-AU 2 135999160 135999160 single base substitution G A upstream_gene_variant MELA-AU 2 135999179 135999180 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 135999179 135999180 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 135999224 135999224 single base substitution G A intron_variant MELA-AU 2 135999224 135999224 single base substitution G A upstream_gene_variant MELA-AU 2 135999355 135999355 single base substitution C T intron_variant MELA-AU 2 135999355 135999355 single base substitution C T upstream_gene_variant MELA-AU 2 135999444 135999444 single base substitution G A intron_variant MELA-AU 2 135999444 135999444 single base substitution G A upstream_gene_variant MELA-AU 2 135999676 135999676 single base substitution G A intron_variant MELA-AU 2 135999676 135999676 single base substitution G A upstream_gene_variant MELA-AU 2 136000448 136000448 single base substitution C T intron_variant MELA-AU 2 136000448 136000448 single base substitution C T upstream_gene_variant MELA-AU 2 136000716 136000716 single base substitution C T intron_variant MELA-AU 2 136000716 136000716 single base substitution C T upstream_gene_variant MELA-AU 2 136000833 136000833 single base substitution C T intron_variant MELA-AU 2 136000833 136000833 single base substitution C T upstream_gene_variant MELA-AU 2 136001080 136001080 single base substitution T A intron_variant MELA-AU 2 136001080 136001080 single base substitution T A upstream_gene_variant MELA-AU 2 136001082 136001082 single base substitution A T intron_variant MELA-AU 2 136001082 136001082 single base substitution A T upstream_gene_variant MELA-AU 2 136001083 136001083 single base substitution T A intron_variant MELA-AU 2 136001083 136001083 single base substitution T A upstream_gene_variant MELA-AU 2 136001171 136001171 single base substitution T A intron_variant MELA-AU 2 136001171 136001171 single base substitution T A upstream_gene_variant MELA-AU 2 136001238 136001238 single base substitution G A intron_variant MELA-AU 2 136001238 136001238 single base substitution G A upstream_gene_variant MELA-AU 2 136001280 136001280 single base substitution C T intron_variant MELA-AU 2 136001280 136001280 single base substitution C T upstream_gene_variant MELA-AU 2 136001418 136001418 single base substitution G A intron_variant MELA-AU 2 136001418 136001418 single base substitution G A upstream_gene_variant MELA-AU 2 136002000 136002000 single base substitution A G intron_variant MELA-AU 2 136002014 136002014 single base substitution G A intron_variant MELA-AU 2 136002234 136002234 single base substitution C T intron_variant MELA-AU 2 136002361 136002361 single base substitution G A intron_variant MELA-AU 2 136002488 136002488 single base substitution G A intron_variant MELA-AU 2 136002489 136002489 single base substitution G A intron_variant MELA-AU 2 136002578 136002578 single base substitution G A intron_variant MELA-AU 2 136002943 136002943 single base substitution A T intron_variant MELA-AU 2 136003034 136003034 insertion of <=200bp - T intron_variant MELA-AU 2 136003285 136003285 single base substitution T C intron_variant MELA-AU 2 136003362 136003362 single base substitution G A intron_variant MELA-AU 2 136003478 136003478 single base substitution G A intron_variant MELA-AU 2 136004409 136004409 single base substitution G A intron_variant MELA-AU 2 136004534 136004534 single base substitution G A intron_variant MELA-AU 2 136004558 136004558 single base substitution A T intron_variant MELA-AU 2 136004849 136004849 single base substitution G A intron_variant MELA-AU 2 136005327 136005327 single base substitution G A intron_variant MELA-AU 2 136005331 136005331 single base substitution G T intron_variant MELA-AU 2 136005348 136005348 single base substitution G A intron_variant MELA-AU 2 136005438 136005438 single base substitution G A intron_variant MELA-AU 2 136005480 136005480 single base substitution G A intron_variant MELA-AU 2 136005705 136005705 single base substitution G A intron_variant MELA-AU 2 136006003 136006003 single base substitution G A intron_variant MELA-AU 2 136006509 136006509 single base substitution G A intron_variant MELA-AU 2 136006633 136006633 single base substitution C A intron_variant MELA-AU 2 136006673 136006673 single base substitution G A intron_variant MELA-AU 2 136006696 136006696 single base substitution G A intron_variant MELA-AU 2 136006829 136006829 single base substitution G A intron_variant MELA-AU 2 136007063 136007063 single base substitution G A intron_variant MELA-AU 2 136007703 136007703 single base substitution G A intron_variant MELA-AU 2 136007742 136007742 single base substitution G A intron_variant MELA-AU 2 136007891 136007891 single base substitution G A intron_variant MELA-AU 2 136008100 136008100 single base substitution G A intron_variant MELA-AU 2 136008421 136008421 single base substitution G A intron_variant MELA-AU 2 136008582 136008582 single base substitution G A intron_variant MELA-AU 2 136008779 136008779 single base substitution C A intron_variant MELA-AU 2 136008944 136008944 single base substitution G A intron_variant MELA-AU 2 136009433 136009433 single base substitution C T intron_variant MELA-AU 2 136009598 136009598 single base substitution C T intron_variant MELA-AU 2 136009646 136009646 single base substitution C T intron_variant MELA-AU 2 136009650 136009650 single base substitution C T intron_variant MELA-AU 2 136009737 136009737 single base substitution G A intron_variant MELA-AU 2 136009919 136009919 single base substitution T A intron_variant MELA-AU 2 136009933 136009933 single base substitution G A intron_variant MELA-AU 2 136010083 136010083 single base substitution A G intron_variant MELA-AU 2 136010165 136010165 single base substitution C T intron_variant MELA-AU 2 136010934 136010934 single base substitution G A intron_variant MELA-AU 2 136010958 136010958 insertion of <=200bp - GA intron_variant MELA-AU 2 136011916 136011916 single base substitution G A intron_variant MELA-AU 2 136012166 136012166 single base substitution G A intron_variant MELA-AU 2 136012215 136012215 single base substitution G A intron_variant MELA-AU 2 136012288 136012288 single base substitution G A intron_variant MELA-AU 2 136012334 136012334 single base substitution T C intron_variant MELA-AU 2 136012556 136012556 single base substitution G A intron_variant MELA-AU 2 136012556 136012557 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 2 136012624 136012624 single base substitution G A intron_variant MELA-AU 2 136012836 136012837 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 2 136012859 136012859 single base substitution C T intron_variant MELA-AU 2 136012873 136012873 single base substitution G A intron_variant MELA-AU 2 136013293 136013293 single base substitution G A intron_variant MELA-AU 2 136013326 136013326 single base substitution G A intron_variant MELA-AU 2 136013359 136013359 single base substitution G A intron_variant MELA-AU 2 136013619 136013619 single base substitution G A intron_variant MELA-AU 2 136014206 136014206 single base substitution C T intron_variant MELA-AU 2 136014273 136014273 single base substitution G A intron_variant MELA-AU 2 136014337 136014337 single base substitution C T intron_variant MELA-AU 2 136014536 136014536 single base substitution T C intron_variant MELA-AU 2 136014642 136014642 single base substitution G A intron_variant MELA-AU 2 136016434 136016434 single base substitution C T intron_variant MELA-AU 2 136016609 136016609 single base substitution C T intron_variant MELA-AU 2 136016656 136016656 single base substitution G A intron_variant MELA-AU 2 136016832 136016832 single base substitution C T intron_variant MELA-AU 2 136017202 136017202 single base substitution G A intron_variant MELA-AU 2 136017584 136017584 single base substitution G A intron_variant MELA-AU 2 136017636 136017636 single base substitution C T intron_variant MELA-AU 2 136017774 136017774 single base substitution G A intron_variant MELA-AU 2 136018040 136018040 deletion of <=200bp T - intron_variant MELA-AU 2 136018988 136018988 single base substitution T C intron_variant MELA-AU 2 136019242 136019242 single base substitution A G intron_variant MELA-AU 2 136019483 136019483 single base substitution A G intron_variant MELA-AU 2 136019522 136019522 single base substitution G A intron_variant MELA-AU 2 136019578 136019578 single base substitution A T intron_variant MELA-AU 2 136019819 136019819 single base substitution G A intron_variant MELA-AU 2 136020083 136020083 single base substitution G A intron_variant MELA-AU 2 136020152 136020152 single base substitution G A intron_variant MELA-AU 2 136020283 136020283 single base substitution T C intron_variant MELA-AU 2 136020525 136020525 single base substitution A G intron_variant MELA-AU 2 136020531 136020531 single base substitution G T intron_variant MELA-AU 2 136021045 136021045 single base substitution G A intron_variant MELA-AU 2 136021508 136021508 single base substitution G A intron_variant MELA-AU 2 136021626 136021626 single base substitution G A intron_variant MELA-AU 2 136021950 136021950 single base substitution G A downstream_gene_variant MELA-AU 2 136021950 136021950 single base substitution G A intron_variant MELA-AU 2 136021959 136021959 single base substitution T C downstream_gene_variant MELA-AU 2 136021959 136021959 single base substitution T C intron_variant MELA-AU 2 136022355 136022355 single base substitution C T downstream_gene_variant MELA-AU 2 136022355 136022355 single base substitution C T intron_variant MELA-AU 2 136023950 136023950 single base substitution G A downstream_gene_variant MELA-AU 2 136023950 136023950 single base substitution G A intron_variant MELA-AU 2 136024008 136024008 single base substitution G A downstream_gene_variant MELA-AU 2 136024008 136024008 single base substitution G A intron_variant MELA-AU 2 136024012 136024013 multiple base substitution (>=2bp and <=200bp) AG TA downstream_gene_variant MELA-AU 2 136024012 136024013 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 2 136024786 136024786 single base substitution G A downstream_gene_variant MELA-AU 2 136024786 136024786 single base substitution G A intron_variant MELA-AU 2 136025004 136025004 single base substitution C A downstream_gene_variant MELA-AU 2 136025004 136025004 single base substitution C A intron_variant MELA-AU 2 136025152 136025152 single base substitution A T downstream_gene_variant MELA-AU 2 136025152 136025152 single base substitution A T intron_variant MELA-AU 2 136025467 136025467 single base substitution G A downstream_gene_variant MELA-AU 2 136025467 136025467 single base substitution G A intron_variant MELA-AU 2 136025471 136025471 single base substitution G A downstream_gene_variant MELA-AU 2 136025471 136025471 single base substitution G A intron_variant MELA-AU 2 136025478 136025478 single base substitution C T downstream_gene_variant MELA-AU 2 136025478 136025478 single base substitution C T intron_variant MELA-AU 2 136025516 136025516 single base substitution G T downstream_gene_variant MELA-AU 2 136025516 136025516 single base substitution G T intron_variant MELA-AU 2 136025583 136025583 single base substitution G A downstream_gene_variant MELA-AU 2 136025583 136025583 single base substitution G A intron_variant MELA-AU 2 136025870 136025870 single base substitution G A downstream_gene_variant MELA-AU 2 136025870 136025870 single base substitution G A intron_variant MELA-AU 2 136025989 136025989 single base substitution G A downstream_gene_variant MELA-AU 2 136025989 136025989 single base substitution G A intron_variant MELA-AU 2 136026026 136026026 single base substitution C T downstream_gene_variant MELA-AU 2 136026026 136026026 single base substitution C T intron_variant MELA-AU 2 136026052 136026052 single base substitution C T downstream_gene_variant MELA-AU 2 136026052 136026052 single base substitution C T intron_variant MELA-AU 2 136026231 136026231 single base substitution G A downstream_gene_variant MELA-AU 2 136026231 136026231 single base substitution G A intron_variant MELA-AU 2 136026454 136026454 single base substitution A G downstream_gene_variant MELA-AU 2 136026454 136026454 single base substitution A G intron_variant MELA-AU 2 136026661 136026661 single base substitution C T 3_prime_UTR_variant MELA-AU 2 136026661 136026661 single base substitution C T exon_variant MELA-AU 2 136026661 136026661 single base substitution C T stop_gained W419* 1257G>A MELA-AU 2 136026702 136026702 single base substitution A G 3_prime_UTR_variant MELA-AU 2 136026702 136026702 single base substitution A G exon_variant MELA-AU 2 136026702 136026702 single base substitution A G missense_variant F406L 1216T>C MELA-AU 2 136027192 136027192 single base substitution G A intron_variant MELA-AU 2 136027230 136027230 single base substitution T C intron_variant MELA-AU 2 136027317 136027317 single base substitution G A intron_variant MELA-AU 2 136027405 136027405 single base substitution G A intron_variant MELA-AU 2 136027860 136027860 single base substitution G A intron_variant MELA-AU 2 136027952 136027952 single base substitution C T intron_variant MELA-AU 2 136028257 136028257 single base substitution G A intron_variant MELA-AU 2 136028320 136028320 single base substitution T C intron_variant MELA-AU 2 136028399 136028399 single base substitution C T intron_variant MELA-AU 2 136029044 136029044 single base substitution G A intron_variant MELA-AU 2 136029375 136029375 single base substitution G A exon_variant MELA-AU 2 136029375 136029375 single base substitution G A missense_variant T390I 1169C>T MELA-AU 2 136029922 136029922 single base substitution G A intron_variant MELA-AU 2 136030483 136030483 single base substitution G A intron_variant MELA-AU 2 136030536 136030536 single base substitution G A intron_variant MELA-AU 2 136030743 136030743 single base substitution G A intron_variant MELA-AU 2 136030767 136030767 single base substitution A G intron_variant MELA-AU 2 136031167 136031167 single base substitution G A intron_variant MELA-AU 2 136031167 136031168 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 136031335 136031335 single base substitution G A intron_variant MELA-AU 2 136031502 136031502 single base substitution G A intron_variant MELA-AU 2 136032047 136032047 single base substitution G A intron_variant MELA-AU 2 136032910 136032910 single base substitution G A intron_variant MELA-AU 2 136033318 136033318 single base substitution G A exon_variant MELA-AU 2 136033318 136033318 single base substitution G A missense_variant A325V 974C>T MELA-AU 2 136033585 136033585 single base substitution G A intron_variant MELA-AU 2 136033594 136033594 single base substitution G A intron_variant MELA-AU 2 136034078 136034078 single base substitution G A intron_variant MELA-AU 2 136034118 136034118 single base substitution G A intron_variant MELA-AU 2 136034187 136034187 single base substitution G A intron_variant MELA-AU 2 136034330 136034330 single base substitution G A intron_variant MELA-AU 2 136034610 136034610 single base substitution G A intron_variant MELA-AU 2 136034617 136034617 single base substitution G T intron_variant MELA-AU 2 136034623 136034623 single base substitution G A intron_variant MELA-AU 2 136034675 136034675 single base substitution G A intron_variant MELA-AU 2 136034727 136034727 single base substitution C T intron_variant MELA-AU 2 136035175 136035175 single base substitution G A intron_variant MELA-AU 2 136035295 136035295 single base substitution G A intron_variant MELA-AU 2 136035571 136035571 single base substitution G A intron_variant MELA-AU 2 136035670 136035670 single base substitution C T intron_variant MELA-AU 2 136035684 136035684 single base substitution G A intron_variant MELA-AU 2 136035735 136035735 single base substitution G A intron_variant MELA-AU 2 136035876 136035876 single base substitution G A intron_variant MELA-AU 2 136035996 136035996 single base substitution G A intron_variant MELA-AU 2 136035997 136035997 single base substitution G A intron_variant MELA-AU 2 136036064 136036064 single base substitution G A intron_variant MELA-AU 2 136036143 136036143 single base substitution G A intron_variant MELA-AU 2 136036413 136036413 single base substitution G A intron_variant MELA-AU 2 136036476 136036476 single base substitution G A intron_variant MELA-AU 2 136036480 136036480 single base substitution G A intron_variant MELA-AU 2 136036533 136036533 single base substitution G A intron_variant MELA-AU 2 136036795 136036795 single base substitution C G intron_variant MELA-AU 2 136037257 136037257 single base substitution C G intron_variant MELA-AU 2 136037299 136037299 single base substitution C T intron_variant MELA-AU 2 136037383 136037383 single base substitution C T intron_variant MELA-AU 2 136037400 136037400 single base substitution G A intron_variant MELA-AU 2 136037512 136037512 single base substitution G A intron_variant MELA-AU 2 136037512 136037513 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 136037639 136037639 single base substitution G A intron_variant MELA-AU 2 136037956 136037956 single base substitution G A intron_variant MELA-AU 2 136038096 136038096 single base substitution C T intron_variant MELA-AU 2 136038255 136038255 single base substitution T C intron_variant MELA-AU 2 136039028 136039028 single base substitution G A intron_variant MELA-AU 2 136039261 136039261 single base substitution C T intron_variant MELA-AU 2 136039360 136039360 single base substitution C T intron_variant MELA-AU 2 136039387 136039387 single base substitution C T intron_variant MELA-AU 2 136039486 136039486 single base substitution G A intron_variant MELA-AU 2 136040266 136040266 single base substitution G T intron_variant MELA-AU 2 136040306 136040306 single base substitution C T intron_variant MELA-AU 2 136040892 136040892 single base substitution G A intron_variant MELA-AU 2 136040976 136040976 single base substitution C T intron_variant MELA-AU 2 136041075 136041075 single base substitution G A intron_variant MELA-AU 2 136041169 136041169 single base substitution G A intron_variant MELA-AU 2 136041380 136041380 single base substitution G A intron_variant MELA-AU 2 136041451 136041451 single base substitution C T intron_variant MELA-AU 2 136041539 136041540 multiple base substitution (>=2bp and <=200bp) CG AA intron_variant MELA-AU 2 136041862 136041862 single base substitution A G intron_variant MELA-AU 2 136042073 136042073 single base substitution G C intron_variant MELA-AU 2 136042279 136042279 single base substitution G A intron_variant MELA-AU 2 136042375 136042376 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 136042625 136042625 single base substitution G A intron_variant MELA-AU 2 136042644 136042644 single base substitution G A intron_variant MELA-AU 2 136042719 136042719 single base substitution G C intron_variant MELA-AU 2 136042968 136042968 single base substitution C A intron_variant MELA-AU 2 136042991 136042991 single base substitution C T intron_variant MELA-AU 2 136043822 136043822 single base substitution C T intron_variant MELA-AU 2 136043854 136043854 single base substitution C T intron_variant MELA-AU 2 136044252 136044252 single base substitution T A intron_variant MELA-AU 2 136044297 136044297 single base substitution C T intron_variant MELA-AU 2 136044426 136044426 single base substitution C T intron_variant MELA-AU 2 136044583 136044583 single base substitution G A intron_variant MELA-AU 2 136044933 136044933 single base substitution G A intron_variant MELA-AU 2 136045386 136045386 single base substitution G A intron_variant MELA-AU 2 136045403 136045403 single base substitution G A intron_variant MELA-AU 2 136045432 136045432 single base substitution G A intron_variant MELA-AU 2 136045758 136045758 single base substitution G A intron_variant MELA-AU 2 136045848 136045848 single base substitution G A intron_variant MELA-AU 2 136045938 136045938 single base substitution C T intron_variant MELA-AU 2 136046031 136046031 single base substitution G A intron_variant MELA-AU 2 136046850 136046850 single base substitution G A intron_variant MELA-AU 2 136046850 136046850 single base substitution G T intron_variant MELA-AU 2 136046992 136046992 single base substitution A T intron_variant MELA-AU 2 136047056 136047056 single base substitution A G intron_variant MELA-AU 2 136047501 136047501 single base substitution C T intron_variant MELA-AU 2 136047800 136047800 single base substitution A G intron_variant MELA-AU 2 136047869 136047869 single base substitution G T intron_variant MELA-AU 2 136047882 136047882 single base substitution T G intron_variant MELA-AU 2 136048083 136048083 single base substitution G A intron_variant MELA-AU 2 136048351 136048351 single base substitution G A intron_variant MELA-AU 2 136048428 136048428 single base substitution G A intron_variant MELA-AU 2 136048451 136048451 single base substitution G A intron_variant MELA-AU 2 136048673 136048673 single base substitution C T intron_variant MELA-AU 2 136048718 136048718 single base substitution C T intron_variant MELA-AU 2 136048794 136048794 single base substitution G T intron_variant MELA-AU 2 136049198 136049198 single base substitution G A intron_variant MELA-AU 2 136049448 136049448 single base substitution G A intron_variant MELA-AU 2 136050239 136050239 single base substitution C T intron_variant MELA-AU 2 136050392 136050392 single base substitution G A intron_variant MELA-AU 2 136050668 136050668 single base substitution G A intron_variant MELA-AU 2 136050900 136050900 single base substitution C T intron_variant MELA-AU 2 136050937 136050937 single base substitution G A intron_variant MELA-AU 2 136051696 136051696 single base substitution G A intron_variant MELA-AU 2 136051734 136051734 single base substitution G A intron_variant MELA-AU 2 136052652 136052652 single base substitution G A intron_variant MELA-AU 2 136053890 136053890 single base substitution C T intron_variant MELA-AU 2 136054469 136054469 single base substitution G A intron_variant MELA-AU 2 136054553 136054553 single base substitution C T intron_variant MELA-AU 2 136054562 136054562 single base substitution G A intron_variant MELA-AU 2 136054590 136054590 single base substitution G A intron_variant MELA-AU 2 136054796 136054796 single base substitution G A intron_variant MELA-AU 2 136054805 136054805 single base substitution C T intron_variant MELA-AU 2 136054928 136054928 single base substitution G A intron_variant MELA-AU 2 136055011 136055011 single base substitution G A intron_variant MELA-AU 2 136055069 136055069 single base substitution G A intron_variant MELA-AU 2 136055082 136055082 single base substitution C T intron_variant MELA-AU 2 136055187 136055187 single base substitution G A intron_variant MELA-AU 2 136055341 136055341 single base substitution G A intron_variant MELA-AU 2 136055591 136055591 single base substitution G A intron_variant MELA-AU 2 136055752 136055752 single base substitution C T intron_variant MELA-AU 2 136055948 136055948 single base substitution G A intron_variant MELA-AU 2 136055949 136055949 single base substitution G A intron_variant MELA-AU 2 136055993 136055993 single base substitution C T intron_variant MELA-AU 2 136056968 136056968 single base substitution C T intron_variant MELA-AU 2 136057254 136057254 single base substitution G A intron_variant MELA-AU 2 136057983 136057983 single base substitution C T intron_variant MELA-AU 2 136058311 136058311 single base substitution C T intron_variant MELA-AU 2 136059157 136059157 single base substitution C T intron_variant MELA-AU 2 136059436 136059436 single base substitution C T intron_variant MELA-AU 2 136059492 136059492 single base substitution G A intron_variant MELA-AU 2 136059834 136059834 single base substitution G A intron_variant MELA-AU 2 136060364 136060364 single base substitution G A intron_variant MELA-AU 2 136060427 136060427 single base substitution G A intron_variant MELA-AU 2 136060701 136060701 single base substitution G A intron_variant MELA-AU 2 136061123 136061123 single base substitution C T intron_variant MELA-AU 2 136061454 136061454 single base substitution G A intron_variant MELA-AU 2 136061525 136061525 single base substitution G A intron_variant MELA-AU 2 136061532 136061532 single base substitution G A intron_variant MELA-AU 2 136061583 136061583 single base substitution G A intron_variant MELA-AU 2 136061672 136061672 single base substitution C T intron_variant MELA-AU 2 136061713 136061713 single base substitution G A intron_variant MELA-AU 2 136061839 136061839 single base substitution C T intron_variant MELA-AU 2 136061880 136061880 single base substitution G A intron_variant MELA-AU 2 136061919 136061919 single base substitution T A intron_variant MELA-AU 2 136061952 136061952 single base substitution G A intron_variant MELA-AU 2 136062184 136062184 single base substitution G A intron_variant MELA-AU 2 136062212 136062212 single base substitution G A intron_variant MELA-AU 2 136062399 136062399 single base substitution T A intron_variant MELA-AU 2 136062807 136062807 single base substitution G A intron_variant MELA-AU 2 136062894 136062894 single base substitution G A intron_variant MELA-AU 2 136062908 136062908 single base substitution G A intron_variant MELA-AU 2 136063154 136063154 single base substitution C T intron_variant MELA-AU 2 136064125 136064125 single base substitution G A intron_variant MELA-AU 2 136064207 136064207 single base substitution G A intron_variant MELA-AU 2 136064294 136064294 single base substitution G A intron_variant MELA-AU 2 136064374 136064374 single base substitution G A intron_variant MELA-AU 2 136064415 136064415 single base substitution C T intron_variant MELA-AU 2 136064493 136064493 single base substitution A T intron_variant MELA-AU 2 136064905 136064905 single base substitution G A intron_variant MELA-AU 2 136065149 136065149 single base substitution G A intron_variant MELA-AU 2 136065287 136065287 single base substitution G A intron_variant MELA-AU 2 136065631 136065631 single base substitution C T intron_variant MELA-AU 2 136065873 136065873 single base substitution C T intron_variant MELA-AU 2 136065881 136065881 single base substitution G A intron_variant MELA-AU 2 136065993 136065993 single base substitution G A intron_variant MELA-AU 2 136066157 136066157 single base substitution C T intron_variant MELA-AU 2 136066173 136066173 single base substitution C T intron_variant MELA-AU 2 136066259 136066259 single base substitution C T intron_variant MELA-AU 2 136066346 136066346 single base substitution A T intron_variant MELA-AU 2 136066447 136066447 single base substitution G A intron_variant MELA-AU 2 136066685 136066685 single base substitution G A intron_variant MELA-AU 2 136066841 136066841 single base substitution G T intron_variant MELA-AU 2 136067049 136067049 single base substitution C T intron_variant MELA-AU 2 136067139 136067139 single base substitution C T intron_variant MELA-AU 2 136067140 136067140 single base substitution G A intron_variant MELA-AU 2 136067541 136067541 single base substitution C T intron_variant MELA-AU 2 136067942 136067942 single base substitution G A intron_variant MELA-AU 2 136069081 136069081 single base substitution G A intron_variant MELA-AU 2 136069407 136069407 single base substitution A G intron_variant MELA-AU 2 136069731 136069732 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 2 136069871 136069871 single base substitution G A intron_variant MELA-AU 2 136070021 136070021 single base substitution C T intron_variant MELA-AU 2 136070347 136070347 single base substitution A T intron_variant MELA-AU 2 136070714 136070714 single base substitution G T intron_variant MELA-AU 2 136070899 136070899 single base substitution G A intron_variant MELA-AU 2 136071577 136071577 single base substitution G A intron_variant MELA-AU 2 136071862 136071862 single base substitution G A intron_variant MELA-AU 2 136072316 136072316 single base substitution A T intron_variant MELA-AU 2 136072326 136072327 multiple base substitution (>=2bp and <=200bp) TT CA intron_variant MELA-AU 2 136072399 136072399 single base substitution A G intron_variant MELA-AU 2 136073014 136073014 single base substitution C T exon_variant MELA-AU 2 136073014 136073014 single base substitution C T missense_variant R255K 764G>A MELA-AU 2 136074008 136074008 single base substitution C T intron_variant MELA-AU 2 136074163 136074163 single base substitution A G intron_variant MELA-AU 2 136074459 136074459 single base substitution C T intron_variant MELA-AU 2 136074485 136074485 single base substitution G C intron_variant MELA-AU 2 136074553 136074553 single base substitution A T intron_variant MELA-AU 2 136074952 136074952 single base substitution G A intron_variant MELA-AU 2 136075393 136075393 single base substitution G A intron_variant MELA-AU 2 136075423 136075423 single base substitution C T intron_variant MELA-AU 2 136075534 136075534 single base substitution G A intron_variant MELA-AU 2 136075635 136075635 single base substitution G A intron_variant MELA-AU 2 136076078 136076078 single base substitution A T intron_variant MELA-AU 2 136076217 136076217 single base substitution C T intron_variant MELA-AU 2 136076469 136076469 single base substitution G A intron_variant MELA-AU 2 136076709 136076709 single base substitution C T intron_variant MELA-AU 2 136076995 136076995 single base substitution G A intron_variant MELA-AU 2 136077449 136077449 single base substitution G A intron_variant MELA-AU 2 136077818 136077818 single base substitution G A intron_variant MELA-AU 2 136078223 136078223 single base substitution G A intron_variant MELA-AU 2 136078631 136078631 single base substitution C T intron_variant MELA-AU 2 136078968 136078968 single base substitution G A intron_variant MELA-AU 2 136079021 136079021 single base substitution T A intron_variant MELA-AU 2 136079664 136079664 single base substitution G A intron_variant MELA-AU 2 136080058 136080058 single base substitution G A intron_variant MELA-AU 2 136080083 136080083 single base substitution C T intron_variant MELA-AU 2 136080119 136080119 single base substitution C T intron_variant MELA-AU 2 136080349 136080349 single base substitution G A intron_variant MELA-AU 2 136080782 136080782 single base substitution G A intron_variant MELA-AU 2 136081151 136081151 single base substitution G C intron_variant MELA-AU 2 136081300 136081300 single base substitution G A intron_variant MELA-AU 2 136082077 136082077 single base substitution G A intron_variant MELA-AU 2 136082108 136082108 single base substitution A G intron_variant MELA-AU 2 136082142 136082142 single base substitution T C intron_variant MELA-AU 2 136082777 136082777 single base substitution G A intron_variant MELA-AU 2 136082888 136082888 single base substitution G A intron_variant MELA-AU 2 136082921 136082921 single base substitution G A intron_variant MELA-AU 2 136083104 136083104 single base substitution G A intron_variant MELA-AU 2 136083565 136083565 single base substitution G A intron_variant MELA-AU 2 136083566 136083566 single base substitution G A intron_variant MELA-AU 2 136083589 136083589 single base substitution G A intron_variant MELA-AU 2 136083704 136083704 single base substitution A C intron_variant MELA-AU 2 136083999 136083999 single base substitution T C intron_variant MELA-AU 2 136084232 136084232 single base substitution G A intron_variant MELA-AU 2 136084254 136084254 single base substitution G A intron_variant MELA-AU 2 136084380 136084380 single base substitution G A intron_variant MELA-AU 2 136084716 136084716 single base substitution A T intron_variant MELA-AU 2 136084807 136084807 single base substitution G A intron_variant MELA-AU 2 136084893 136084893 single base substitution C A intron_variant MELA-AU 2 136084903 136084903 single base substitution G A intron_variant MELA-AU 2 136084914 136084914 single base substitution A G intron_variant MELA-AU 2 136085194 136085194 single base substitution G A intron_variant MELA-AU 2 136085952 136085952 single base substitution G A intron_variant MELA-AU 2 136085958 136085958 single base substitution G A intron_variant MELA-AU 2 136086037 136086037 single base substitution G A intron_variant MELA-AU 2 136086342 136086342 single base substitution G A intron_variant MELA-AU 2 136086360 136086360 single base substitution G A intron_variant MELA-AU 2 136086480 136086480 single base substitution G A intron_variant MELA-AU 2 136086587 136086587 single base substitution C T intron_variant MELA-AU 2 136086982 136086982 single base substitution C T intron_variant MELA-AU 2 136087455 136087455 single base substitution G A intron_variant MELA-AU 2 136087570 136087570 single base substitution A C intron_variant MELA-AU 2 136087575 136087575 single base substitution G A intron_variant MELA-AU 2 136087717 136087717 single base substitution A T intron_variant MELA-AU 2 136088014 136088014 single base substitution G A intron_variant MELA-AU 2 136088040 136088040 single base substitution G A intron_variant MELA-AU 2 136088052 136088052 single base substitution G A intron_variant MELA-AU 2 136088053 136088053 single base substitution A T intron_variant MELA-AU 2 136088189 136088189 single base substitution G A intron_variant MELA-AU 2 136088192 136088192 single base substitution G A intron_variant MELA-AU 2 136088193 136088193 single base substitution G A intron_variant MELA-AU 2 136088202 136088202 single base substitution G A intron_variant MELA-AU 2 136088210 136088210 single base substitution C T intron_variant MELA-AU 2 136088366 136088366 single base substitution G A intron_variant MELA-AU 2 136088571 136088571 single base substitution C T intron_variant MELA-AU 2 136088925 136088925 single base substitution C T intron_variant MELA-AU 2 136089106 136089106 single base substitution G A intron_variant MELA-AU 2 136089148 136089148 single base substitution C T intron_variant MELA-AU 2 136089276 136089276 single base substitution G A intron_variant MELA-AU 2 136089328 136089328 single base substitution G A intron_variant MELA-AU 2 136089801 136089801 single base substitution C T intron_variant MELA-AU 2 136089828 136089828 single base substitution T A intron_variant MELA-AU 2 136090251 136090251 single base substitution C T intron_variant MELA-AU 2 136090382 136090382 single base substitution A G intron_variant MELA-AU 2 136090920 136090920 single base substitution G A intron_variant MELA-AU 2 136091469 136091469 single base substitution T C intron_variant MELA-AU 2 136091779 136091779 single base substitution G A intron_variant MELA-AU 2 136091849 136091850 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 136091889 136091889 single base substitution G A intron_variant MELA-AU 2 136091894 136091894 single base substitution G A intron_variant MELA-AU 2 136092045 136092045 single base substitution G A intron_variant MELA-AU 2 136092065 136092065 single base substitution G A intron_variant MELA-AU 2 136092248 136092248 single base substitution G A intron_variant MELA-AU 2 136092256 136092256 single base substitution G A intron_variant MELA-AU 2 136092302 136092302 single base substitution A G intron_variant MELA-AU 2 136092312 136092312 single base substitution A T intron_variant MELA-AU 2 136092379 136092379 single base substitution C T intron_variant MELA-AU 2 136092486 136092486 single base substitution A T intron_variant MELA-AU 2 136092975 136092975 single base substitution G A intron_variant MELA-AU 2 136093036 136093036 single base substitution G A intron_variant MELA-AU 2 136093316 136093316 single base substitution G A intron_variant MELA-AU 2 136093467 136093467 single base substitution G A intron_variant MELA-AU 2 136093488 136093488 single base substitution G A intron_variant MELA-AU 2 136094468 136094468 single base substitution G A intron_variant MELA-AU 2 136095479 136095479 single base substitution G A intron_variant MELA-AU 2 136095718 136095718 single base substitution C T intron_variant MELA-AU 2 136095962 136095962 single base substitution T A intron_variant MELA-AU 2 136096499 136096499 single base substitution G A intron_variant MELA-AU 2 136096742 136096742 single base substitution G A intron_variant MELA-AU 2 136097739 136097739 single base substitution G A downstream_gene_variant MELA-AU 2 136097739 136097739 single base substitution G A intron_variant MELA-AU 2 136097931 136097931 single base substitution C T downstream_gene_variant MELA-AU 2 136097931 136097931 single base substitution C T intron_variant MELA-AU 2 136097976 136097976 single base substitution C T downstream_gene_variant MELA-AU 2 136097976 136097976 single base substitution C T intron_variant MELA-AU 2 136098117 136098117 single base substitution G A downstream_gene_variant MELA-AU 2 136098117 136098117 single base substitution G A intron_variant MELA-AU 2 136098234 136098234 single base substitution G A downstream_gene_variant MELA-AU 2 136098234 136098234 single base substitution G A intron_variant MELA-AU 2 136098828 136098828 single base substitution G A downstream_gene_variant MELA-AU 2 136098828 136098828 single base substitution G A intron_variant MELA-AU 2 136098935 136098935 single base substitution C T downstream_gene_variant MELA-AU 2 136098935 136098935 single base substitution C T intron_variant MELA-AU 2 136099255 136099256 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 136099255 136099256 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 136099286 136099286 single base substitution T C downstream_gene_variant MELA-AU 2 136099286 136099286 single base substitution T C intron_variant MELA-AU 2 136099628 136099628 single base substitution A C downstream_gene_variant MELA-AU 2 136099628 136099628 single base substitution A C intron_variant MELA-AU 2 136099644 136099644 single base substitution G A downstream_gene_variant MELA-AU 2 136099644 136099644 single base substitution G A intron_variant MELA-AU 2 136099755 136099755 single base substitution C T downstream_gene_variant MELA-AU 2 136099755 136099755 single base substitution C T intron_variant MELA-AU 2 136099784 136099784 single base substitution A G downstream_gene_variant MELA-AU 2 136099784 136099784 single base substitution A G intron_variant MELA-AU 2 136099846 136099846 single base substitution G A downstream_gene_variant MELA-AU 2 136099846 136099846 single base substitution G A intron_variant MELA-AU 2 136099902 136099902 single base substitution C T downstream_gene_variant MELA-AU 2 136099902 136099902 single base substitution C T intron_variant MELA-AU 2 136099942 136099942 single base substitution G A downstream_gene_variant MELA-AU 2 136099942 136099942 single base substitution G A intron_variant MELA-AU 2 136100266 136100266 single base substitution C T downstream_gene_variant MELA-AU 2 136100266 136100266 single base substitution C T intron_variant MELA-AU 2 136100317 136100317 single base substitution G A downstream_gene_variant MELA-AU 2 136100317 136100317 single base substitution G A intron_variant MELA-AU 2 136100556 136100556 single base substitution G A downstream_gene_variant MELA-AU 2 136100556 136100556 single base substitution G A intron_variant MELA-AU 2 136100567 136100567 single base substitution T A downstream_gene_variant MELA-AU 2 136100567 136100567 single base substitution T A intron_variant MELA-AU 2 136100682 136100683 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 136100682 136100683 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 136100691 136100691 single base substitution G A downstream_gene_variant MELA-AU 2 136100691 136100691 single base substitution G A intron_variant MELA-AU 2 136101009 136101009 single base substitution C T downstream_gene_variant MELA-AU 2 136101009 136101009 single base substitution C T intron_variant MELA-AU 2 136101218 136101218 single base substitution G A downstream_gene_variant MELA-AU 2 136101218 136101218 single base substitution G A intron_variant MELA-AU 2 136101645 136101645 single base substitution A C downstream_gene_variant MELA-AU 2 136101645 136101645 single base substitution A C intron_variant MELA-AU 2 136101847 136101847 single base substitution G A downstream_gene_variant MELA-AU 2 136101847 136101847 single base substitution G A intron_variant MELA-AU 2 136102294 136102294 single base substitution G A downstream_gene_variant MELA-AU 2 136102294 136102294 single base substitution G A intron_variant MELA-AU 2 136102304 136102304 single base substitution C T downstream_gene_variant MELA-AU 2 136102304 136102304 single base substitution C T intron_variant MELA-AU 2 136102550 136102550 single base substitution G A downstream_gene_variant MELA-AU 2 136102550 136102550 single base substitution G A intron_variant MELA-AU 2 136102685 136102685 single base substitution G A downstream_gene_variant MELA-AU 2 136102685 136102685 single base substitution G A intron_variant MELA-AU 2 136102857 136102857 single base substitution G A exon_variant MELA-AU 2 136102857 136102857 single base substitution G A intron_variant MELA-AU 2 136103021 136103021 single base substitution G A exon_variant MELA-AU 2 136103021 136103021 single base substitution G A intron_variant MELA-AU 2 136103087 136103087 single base substitution A G intron_variant MELA-AU 2 136103728 136103728 single base substitution G C intron_variant MELA-AU 2 136103900 136103900 single base substitution G A intron_variant MELA-AU 2 136104310 136104310 single base substitution G A intron_variant MELA-AU 2 136105046 136105046 single base substitution C T intron_variant MELA-AU 2 136105062 136105062 single base substitution C T intron_variant MELA-AU 2 136105306 136105306 single base substitution G A intron_variant MELA-AU 2 136105318 136105318 single base substitution G A intron_variant MELA-AU 2 136105538 136105538 single base substitution G C intron_variant MELA-AU 2 136105552 136105552 single base substitution G A intron_variant MELA-AU 2 136105816 136105816 single base substitution G A intron_variant MELA-AU 2 136105826 136105826 single base substitution C T intron_variant MELA-AU 2 136106003 136106003 single base substitution G A downstream_gene_variant MELA-AU 2 136106003 136106003 single base substitution G A intron_variant MELA-AU 2 136106384 136106384 single base substitution G A downstream_gene_variant MELA-AU 2 136106384 136106384 single base substitution G A intron_variant MELA-AU 2 136107234 136107234 single base substitution G A downstream_gene_variant MELA-AU 2 136107234 136107234 single base substitution G A intron_variant MELA-AU 2 136107357 136107357 single base substitution G T downstream_gene_variant MELA-AU 2 136107357 136107357 single base substitution G T intron_variant MELA-AU 2 136107463 136107463 single base substitution G A downstream_gene_variant MELA-AU 2 136107463 136107463 single base substitution G A intron_variant MELA-AU 2 136107466 136107466 single base substitution A G downstream_gene_variant MELA-AU 2 136107466 136107466 single base substitution A G intron_variant MELA-AU 2 136107637 136107637 single base substitution T C downstream_gene_variant MELA-AU 2 136107637 136107637 single base substitution T C exon_variant MELA-AU 2 136107637 136107637 single base substitution T C missense_variant S170G 508A>G MELA-AU 2 136107957 136107957 single base substitution A G downstream_gene_variant MELA-AU 2 136107957 136107957 single base substitution A G intron_variant MELA-AU 2 136108298 136108298 single base substitution G A downstream_gene_variant MELA-AU 2 136108298 136108298 single base substitution G A intron_variant MELA-AU 2 136108646 136108646 single base substitution T G downstream_gene_variant MELA-AU 2 136108646 136108646 single base substitution T G intron_variant MELA-AU 2 136108728 136108728 single base substitution C T downstream_gene_variant MELA-AU 2 136108728 136108728 single base substitution C T intron_variant MELA-AU 2 136108743 136108743 single base substitution G A downstream_gene_variant MELA-AU 2 136108743 136108743 single base substitution G A intron_variant MELA-AU 2 136108880 136108880 single base substitution C A downstream_gene_variant MELA-AU 2 136108880 136108880 single base substitution C A intron_variant MELA-AU 2 136109220 136109221 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 136109220 136109221 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 136109415 136109415 single base substitution A G downstream_gene_variant MELA-AU 2 136109415 136109415 single base substitution A G intron_variant MELA-AU 2 136109462 136109462 single base substitution T A downstream_gene_variant MELA-AU 2 136109462 136109462 single base substitution T A intron_variant MELA-AU 2 136109478 136109478 single base substitution C T downstream_gene_variant MELA-AU 2 136109478 136109478 single base substitution C T intron_variant MELA-AU 2 136109504 136109504 single base substitution A C downstream_gene_variant MELA-AU 2 136109504 136109504 single base substitution A C intron_variant MELA-AU 2 136109677 136109678 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 136109677 136109678 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 136110461 136110461 single base substitution G A downstream_gene_variant MELA-AU 2 136110461 136110461 single base substitution G A intron_variant MELA-AU 2 136110875 136110875 single base substitution T G downstream_gene_variant MELA-AU 2 136110875 136110875 single base substitution T G intron_variant MELA-AU 2 136110994 136110994 single base substitution C T exon_variant MELA-AU 2 136110994 136110994 single base substitution C T intron_variant MELA-AU 2 136111039 136111039 single base substitution G A exon_variant MELA-AU 2 136111039 136111039 single base substitution G A stop_gained Q114* 340C>T MELA-AU 2 136111369 136111369 single base substitution G A intron_variant MELA-AU 2 136111369 136111369 single base substitution G A upstream_gene_variant MELA-AU 2 136111424 136111424 single base substitution A G intron_variant MELA-AU 2 136111424 136111424 single base substitution A G upstream_gene_variant MELA-AU 2 136111438 136111439 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 2 136111438 136111439 multiple base substitution (>=2bp and <=200bp) GG CA upstream_gene_variant MELA-AU 2 136111547 136111547 single base substitution C T intron_variant MELA-AU 2 136111547 136111547 single base substitution C T upstream_gene_variant MELA-AU 2 136111797 136111797 single base substitution C T intron_variant MELA-AU 2 136111797 136111797 single base substitution C T upstream_gene_variant MELA-AU 2 136112015 136112015 single base substitution A G intron_variant MELA-AU 2 136112015 136112015 single base substitution A G upstream_gene_variant MELA-AU 2 136112379 136112379 single base substitution G A intron_variant MELA-AU 2 136112379 136112379 single base substitution G A upstream_gene_variant MELA-AU 2 136113302 136113302 single base substitution G A intron_variant MELA-AU 2 136113302 136113302 single base substitution G A upstream_gene_variant MELA-AU 2 136113400 136113400 single base substitution G A intron_variant MELA-AU 2 136113400 136113400 single base substitution G A upstream_gene_variant MELA-AU 2 136113405 136113405 single base substitution C T intron_variant MELA-AU 2 136113405 136113405 single base substitution C T upstream_gene_variant MELA-AU 2 136113436 136113436 single base substitution G A intron_variant MELA-AU 2 136113436 136113436 single base substitution G A upstream_gene_variant MELA-AU 2 136113494 136113495 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 2 136113494 136113495 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 2 136113499 136113499 single base substitution G A intron_variant MELA-AU 2 136113499 136113499 single base substitution G A upstream_gene_variant MELA-AU 2 136114003 136114003 single base substitution A T intron_variant MELA-AU 2 136114003 136114003 single base substitution A T upstream_gene_variant MELA-AU 2 136114401 136114401 single base substitution G A intron_variant MELA-AU 2 136114401 136114401 single base substitution G A upstream_gene_variant MELA-AU 2 136114409 136114409 single base substitution G A intron_variant MELA-AU 2 136114409 136114409 single base substitution G A upstream_gene_variant MELA-AU 2 136114492 136114492 single base substitution G A intron_variant MELA-AU 2 136114492 136114492 single base substitution G A upstream_gene_variant MELA-AU 2 136115502 136115502 single base substitution G A intron_variant MELA-AU 2 136115502 136115502 single base substitution G A upstream_gene_variant MELA-AU 2 136116009 136116009 single base substitution G A intron_variant MELA-AU 2 136116009 136116009 single base substitution G A upstream_gene_variant MELA-AU 2 136116028 136116028 single base substitution G A intron_variant MELA-AU 2 136116028 136116028 single base substitution G A upstream_gene_variant MELA-AU 2 136116029 136116029 single base substitution G A intron_variant MELA-AU 2 136116029 136116029 single base substitution G A upstream_gene_variant MELA-AU 2 136116178 136116178 single base substitution A G intron_variant MELA-AU 2 136116178 136116178 single base substitution A G upstream_gene_variant MELA-AU 2 136116346 136116346 single base substitution A C intron_variant MELA-AU 2 136116470 136116471 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 136116759 136116759 single base substitution T G intron_variant MELA-AU 2 136116913 136116913 single base substitution G A intron_variant MELA-AU 2 136116946 136116946 single base substitution G A intron_variant MELA-AU 2 136117145 136117145 single base substitution C T intron_variant MELA-AU 2 136117257 136117257 single base substitution G A intron_variant MELA-AU 2 136117596 136117596 single base substitution G A intron_variant MELA-AU 2 136117786 136117786 single base substitution G A intron_variant MELA-AU 2 136118400 136118400 single base substitution G A intron_variant MELA-AU 2 136118417 136118417 single base substitution A G intron_variant MELA-AU 2 136119259 136119259 single base substitution G A intron_variant MELA-AU 2 136119333 136119333 single base substitution A G intron_variant MELA-AU 2 136119337 136119337 single base substitution G C intron_variant MELA-AU 2 136119371 136119371 single base substitution G A intron_variant MELA-AU 2 136119531 136119531 single base substitution G A intron_variant MELA-AU 2 136119601 136119601 single base substitution T C intron_variant MELA-AU 2 136119722 136119722 single base substitution C T intron_variant MELA-AU 2 136120050 136120050 single base substitution G A intron_variant MELA-AU 2 136120153 136120153 single base substitution G A intron_variant MELA-AU 2 136120183 136120183 single base substitution C T intron_variant MELA-AU 2 136120328 136120328 single base substitution G A intron_variant MELA-AU 2 136120382 136120382 single base substitution G A intron_variant MELA-AU 2 136120528 136120528 single base substitution A C intron_variant MELA-AU 2 136120573 136120573 single base substitution G A intron_variant MELA-AU 2 136120669 136120669 single base substitution C T intron_variant MELA-AU 2 136120764 136120764 single base substitution G A intron_variant MELA-AU 2 136120841 136120841 single base substitution G A intron_variant MELA-AU 2 136120960 136120960 single base substitution G A intron_variant MELA-AU 2 136121252 136121252 single base substitution G A intron_variant MELA-AU 2 136121379 136121379 single base substitution G A intron_variant MELA-AU 2 136121627 136121627 single base substitution G A intron_variant MELA-AU 2 136121664 136121664 single base substitution G A intron_variant MELA-AU 2 136121675 136121675 single base substitution G A intron_variant MELA-AU 2 136123165 136123165 single base substitution C T intron_variant MELA-AU 2 136123560 136123560 single base substitution G A intron_variant MELA-AU 2 136124069 136124069 single base substitution G A intron_variant MELA-AU 2 136124178 136124178 single base substitution G A intron_variant MELA-AU 2 136124371 136124371 single base substitution G A intron_variant MELA-AU 2 136124669 136124669 single base substitution C T intron_variant MELA-AU 2 136124977 136124977 single base substitution G A intron_variant MELA-AU 2 136125032 136125032 single base substitution G A intron_variant MELA-AU 2 136125206 136125206 single base substitution C T intron_variant MELA-AU 2 136125217 136125217 single base substitution A G intron_variant MELA-AU 2 136126173 136126173 single base substitution A T intron_variant MELA-AU 2 136126444 136126444 single base substitution G A intron_variant MELA-AU 2 136127217 136127217 single base substitution G A intron_variant MELA-AU 2 136127591 136127591 single base substitution G A intron_variant MELA-AU 2 136128065 136128065 single base substitution G A intron_variant MELA-AU 2 136128085 136128085 single base substitution A T intron_variant MELA-AU 2 136128177 136128177 single base substitution G A intron_variant MELA-AU 2 136128179 136128179 single base substitution A T intron_variant MELA-AU 2 136128263 136128263 single base substitution G A intron_variant MELA-AU 2 136128311 136128311 single base substitution G A intron_variant MELA-AU 2 136128681 136128681 single base substitution A T intron_variant MELA-AU 2 136128750 136128750 single base substitution G A intron_variant MELA-AU 2 136128761 136128761 single base substitution G A intron_variant MELA-AU 2 136129119 136129119 single base substitution G A intron_variant MELA-AU 2 136129664 136129664 single base substitution G A intron_variant MELA-AU 2 136130019 136130019 single base substitution G A intron_variant MELA-AU 2 136130175 136130175 single base substitution G A intron_variant MELA-AU 2 136130407 136130407 single base substitution G A intron_variant MELA-AU 2 136130484 136130484 single base substitution C T intron_variant MELA-AU 2 136130578 136130578 single base substitution G A intron_variant MELA-AU 2 136130622 136130622 single base substitution C T intron_variant MELA-AU 2 136130688 136130688 single base substitution G A intron_variant MELA-AU 2 136130797 136130797 single base substitution T C intron_variant MELA-AU 2 136131018 136131018 single base substitution A T intron_variant MELA-AU 2 136131021 136131021 single base substitution G A intron_variant MELA-AU 2 136131739 136131739 single base substitution G A intron_variant MELA-AU 2 136132898 136132898 single base substitution G A intron_variant MELA-AU 2 136132914 136132914 single base substitution G A intron_variant MELA-AU 2 136133016 136133016 single base substitution G A intron_variant MELA-AU 2 136133075 136133075 single base substitution G A intron_variant MELA-AU 2 136133268 136133268 single base substitution C A intron_variant MELA-AU 2 136133283 136133283 deletion of <=200bp G - intron_variant MELA-AU 2 136133672 136133672 single base substitution G A intron_variant MELA-AU 2 136133773 136133773 single base substitution G A intron_variant MELA-AU 2 136134030 136134030 single base substitution G A intron_variant MELA-AU 2 136134038 136134038 single base substitution G A intron_variant MELA-AU 2 136134114 136134114 single base substitution G A intron_variant MELA-AU 2 136134215 136134215 single base substitution G A intron_variant MELA-AU 2 136134261 136134261 single base substitution G A intron_variant MELA-AU 2 136134508 136134508 single base substitution G A intron_variant MELA-AU 2 136134788 136134788 single base substitution G A intron_variant MELA-AU 2 136134935 136134935 single base substitution G A intron_variant MELA-AU 2 136135036 136135036 single base substitution G A intron_variant MELA-AU 2 136135183 136135183 single base substitution G A intron_variant MELA-AU 2 136135637 136135637 single base substitution C T intron_variant MELA-AU 2 136135652 136135652 single base substitution G A intron_variant MELA-AU 2 136135703 136135703 single base substitution C T intron_variant MELA-AU 2 136135949 136135949 single base substitution A G intron_variant MELA-AU 2 136135973 136135973 single base substitution G A intron_variant MELA-AU 2 136135990 136135990 single base substitution G A intron_variant MELA-AU 2 136136390 136136390 single base substitution C G intron_variant MELA-AU 2 136136512 136136512 single base substitution G A intron_variant MELA-AU 2 136136617 136136617 single base substitution G A intron_variant MELA-AU 2 136136678 136136678 single base substitution G A intron_variant MELA-AU 2 136137360 136137360 single base substitution G A intron_variant MELA-AU 2 136138068 136138068 single base substitution G A intron_variant MELA-AU 2 136138245 136138245 single base substitution G A intron_variant MELA-AU 2 136138480 136138480 single base substitution A C intron_variant MELA-AU 2 136138485 136138485 single base substitution C T intron_variant MELA-AU 2 136138844 136138844 single base substitution G A intron_variant MELA-AU 2 136139063 136139063 single base substitution G A intron_variant MELA-AU 2 136139104 136139104 single base substitution G A intron_variant MELA-AU 2 136139461 136139461 single base substitution G A intron_variant MELA-AU 2 136139561 136139561 single base substitution G A intron_variant MELA-AU 2 136139627 136139627 single base substitution G A intron_variant MELA-AU 2 136139905 136139905 single base substitution G A intron_variant MELA-AU 2 136139919 136139919 single base substitution G C intron_variant MELA-AU 2 136140271 136140271 single base substitution A T intron_variant MELA-AU 2 136140273 136140273 single base substitution A T intron_variant MELA-AU 2 136140540 136140540 single base substitution G A intron_variant MELA-AU 2 136140613 136140613 single base substitution A C intron_variant MELA-AU 2 136140981 136140981 single base substitution C T intron_variant MELA-AU 2 136141305 136141305 single base substitution C T intron_variant MELA-AU 2 136141425 136141425 single base substitution G A intron_variant MELA-AU 2 136141636 136141636 single base substitution G A intron_variant MELA-AU 2 136141864 136141864 single base substitution G A intron_variant MELA-AU 2 136142081 136142081 single base substitution G A intron_variant MELA-AU 2 136142563 136142563 single base substitution G A intron_variant MELA-AU 2 136142616 136142616 single base substitution G T intron_variant MELA-AU 2 136142852 136142852 single base substitution A G intron_variant MELA-AU 2 136142856 136142856 single base substitution G A intron_variant MELA-AU 2 136142927 136142927 single base substitution G A intron_variant MELA-AU 2 136142932 136142932 single base substitution A G intron_variant MELA-AU 2 136142956 136142956 single base substitution G A intron_variant MELA-AU 2 136143226 136143226 single base substitution C T intron_variant MELA-AU 2 136143307 136143307 single base substitution G A intron_variant MELA-AU 2 136143611 136143611 single base substitution C T intron_variant MELA-AU 2 136144005 136144005 single base substitution G A intron_variant MELA-AU 2 136144076 136144076 single base substitution G A intron_variant MELA-AU 2 136144147 136144147 single base substitution G A intron_variant MELA-AU 2 136144262 136144262 single base substitution G A intron_variant MELA-AU 2 136144400 136144400 deletion of <=200bp G - intron_variant MELA-AU 2 136144816 136144816 single base substitution C T intron_variant MELA-AU 2 136145286 136145286 single base substitution G A intron_variant MELA-AU 2 136145337 136145337 single base substitution G A intron_variant MELA-AU 2 136145615 136145615 single base substitution G A intron_variant MELA-AU 2 136145619 136145619 single base substitution G A intron_variant MELA-AU 2 136145796 136145796 single base substitution G A intron_variant MELA-AU 2 136146020 136146020 single base substitution T A intron_variant MELA-AU 2 136146140 136146140 single base substitution G A intron_variant MELA-AU 2 136146316 136146316 single base substitution C T intron_variant MELA-AU 2 136146418 136146418 single base substitution G A intron_variant MELA-AU 2 136146419 136146419 single base substitution G A intron_variant MELA-AU 2 136146439 136146439 single base substitution G T intron_variant MELA-AU 2 136146543 136146543 single base substitution G T intron_variant MELA-AU 2 136147077 136147077 single base substitution A G intron_variant MELA-AU 2 136147170 136147170 single base substitution G A intron_variant MELA-AU 2 136147196 136147196 single base substitution A G intron_variant MELA-AU 2 136147777 136147777 single base substitution G A intron_variant MELA-AU 2 136147953 136147953 single base substitution T G intron_variant MELA-AU 2 136148120 136148120 single base substitution G A intron_variant MELA-AU 2 136148303 136148303 single base substitution G A intron_variant MELA-AU 2 136148357 136148357 single base substitution C T intron_variant MELA-AU 2 136148405 136148405 single base substitution A G intron_variant MELA-AU 2 136148651 136148651 single base substitution G A intron_variant MELA-AU 2 136149007 136149007 single base substitution C T intron_variant MELA-AU 2 136149009 136149009 single base substitution T C intron_variant MELA-AU 2 136149370 136149370 single base substitution C T intron_variant MELA-AU 2 136149624 136149624 single base substitution G A intron_variant MELA-AU 2 136149658 136149658 single base substitution G A intron_variant MELA-AU 2 136150091 136150091 single base substitution G A intron_variant MELA-AU 2 136150497 136150497 single base substitution A T intron_variant MELA-AU 2 136150869 136150869 single base substitution G A intron_variant MELA-AU 2 136150923 136150923 single base substitution G A intron_variant MELA-AU 2 136151048 136151048 single base substitution G A intron_variant MELA-AU 2 136151128 136151128 single base substitution G A intron_variant MELA-AU 2 136151224 136151224 single base substitution T A intron_variant MELA-AU 2 136151352 136151353 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 136151552 136151552 single base substitution C T intron_variant MELA-AU 2 136151865 136151865 single base substitution A C intron_variant MELA-AU 2 136151912 136151912 single base substitution G A intron_variant MELA-AU 2 136152035 136152035 single base substitution G A intron_variant MELA-AU 2 136152147 136152147 single base substitution G A intron_variant MELA-AU 2 136152200 136152200 single base substitution G A intron_variant MELA-AU 2 136152222 136152222 single base substitution A T intron_variant MELA-AU 2 136152351 136152351 single base substitution G A intron_variant MELA-AU 2 136152644 136152644 single base substitution G A intron_variant MELA-AU 2 136153388 136153388 single base substitution G A intron_variant MELA-AU 2 136153390 136153390 single base substitution G A intron_variant MELA-AU 2 136153420 136153420 single base substitution G A intron_variant MELA-AU 2 136153618 136153618 single base substitution G A intron_variant MELA-AU 2 136153745 136153745 single base substitution G A intron_variant MELA-AU 2 136153859 136153859 single base substitution G A intron_variant MELA-AU 2 136154240 136154240 single base substitution G A intron_variant MELA-AU 2 136154271 136154271 single base substitution G A intron_variant MELA-AU 2 136154456 136154456 single base substitution T C intron_variant MELA-AU 2 136154518 136154518 single base substitution A C intron_variant MELA-AU 2 136154624 136154624 single base substitution G A intron_variant MELA-AU 2 136154987 136154987 single base substitution C T intron_variant MELA-AU 2 136155571 136155571 single base substitution G A intron_variant MELA-AU 2 136156631 136156631 single base substitution G A intron_variant MELA-AU 2 136157055 136157055 single base substitution G A intron_variant MELA-AU 2 136157202 136157202 single base substitution G A intron_variant MELA-AU 2 136157230 136157230 single base substitution T G intron_variant MELA-AU 2 136157350 136157350 single base substitution G A intron_variant MELA-AU 2 136157605 136157605 single base substitution T A intron_variant MELA-AU 2 136157673 136157673 single base substitution G A intron_variant MELA-AU 2 136157736 136157736 single base substitution G A intron_variant MELA-AU 2 136157964 136157964 single base substitution G A intron_variant MELA-AU 2 136158113 136158113 single base substitution G A intron_variant MELA-AU 2 136158449 136158449 single base substitution G A intron_variant MELA-AU 2 136158486 136158486 single base substitution C T intron_variant MELA-AU 2 136158715 136158715 single base substitution G A intron_variant MELA-AU 2 136158755 136158755 single base substitution G A intron_variant MELA-AU 2 136159641 136159641 single base substitution G A intron_variant MELA-AU 2 136159748 136159748 single base substitution G A intron_variant MELA-AU 2 136159778 136159778 single base substitution T C intron_variant MELA-AU 2 136160081 136160081 single base substitution G A intron_variant MELA-AU 2 136160142 136160142 single base substitution G A intron_variant MELA-AU 2 136160345 136160345 single base substitution G A intron_variant MELA-AU 2 136160561 136160561 single base substitution A T intron_variant MELA-AU 2 136160711 136160711 single base substitution G A intron_variant MELA-AU 2 136160796 136160796 single base substitution G A intron_variant MELA-AU 2 136161064 136161064 single base substitution G A intron_variant MELA-AU 2 136161094 136161094 single base substitution G A intron_variant MELA-AU 2 136161466 136161466 single base substitution C T intron_variant MELA-AU 2 136161476 136161476 single base substitution G A intron_variant MELA-AU 2 136161495 136161495 single base substitution G A intron_variant MELA-AU 2 136161570 136161570 single base substitution G A intron_variant MELA-AU 2 136161690 136161690 single base substitution G A intron_variant MELA-AU 2 136161827 136161827 single base substitution G A intron_variant MELA-AU 2 136162068 136162068 single base substitution G A intron_variant MELA-AU 2 136162255 136162255 single base substitution T C intron_variant MELA-AU 2 136162560 136162560 single base substitution G A intron_variant MELA-AU 2 136162561 136162561 single base substitution G A intron_variant MELA-AU 2 136163069 136163069 single base substitution C T intron_variant MELA-AU 2 136163402 136163402 single base substitution G A intron_variant MELA-AU 2 136163542 136163542 single base substitution G A intron_variant MELA-AU 2 136163842 136163842 single base substitution G A intron_variant MELA-AU 2 136163947 136163947 single base substitution G A intron_variant MELA-AU 2 136164019 136164019 single base substitution G A intron_variant MELA-AU 2 136164241 136164241 single base substitution G A intron_variant MELA-AU 2 136164528 136164528 single base substitution G A intron_variant MELA-AU 2 136164717 136164717 single base substitution C T intron_variant MELA-AU 2 136164894 136164894 single base substitution G A intron_variant MELA-AU 2 136165830 136165830 single base substitution C T intron_variant MELA-AU 2 136165854 136165854 single base substitution C T intron_variant MELA-AU 2 136166059 136166059 single base substitution G A intron_variant MELA-AU 2 136166263 136166263 single base substitution G A intron_variant MELA-AU 2 136166370 136166370 single base substitution G A intron_variant MELA-AU 2 136166404 136166405 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 136166405 136166405 single base substitution G A intron_variant MELA-AU 2 136167113 136167113 single base substitution G A intron_variant MELA-AU 2 136167147 136167147 single base substitution C T intron_variant MELA-AU 2 136167210 136167210 single base substitution G A intron_variant MELA-AU 2 136167426 136167426 single base substitution G A intron_variant MELA-AU 2 136167531 136167531 single base substitution G A intron_variant MELA-AU 2 136167870 136167870 single base substitution G A intron_variant MELA-AU 2 136168035 136168035 single base substitution C T intron_variant MELA-AU 2 136168139 136168139 single base substitution G A intron_variant MELA-AU 2 136168208 136168208 single base substitution G A intron_variant MELA-AU 2 136168297 136168297 single base substitution G A intron_variant MELA-AU 2 136168319 136168319 single base substitution G A intron_variant MELA-AU 2 136168330 136168330 single base substitution G A intron_variant MELA-AU 2 136168478 136168478 single base substitution T C intron_variant MELA-AU 2 136168513 136168513 single base substitution G A intron_variant MELA-AU 2 136168915 136168915 single base substitution G A intron_variant MELA-AU 2 136169341 136169341 single base substitution G A intron_variant MELA-AU 2 136169973 136169973 single base substitution A T intron_variant MELA-AU 2 136170146 136170146 single base substitution G A intron_variant MELA-AU 2 136170538 136170538 single base substitution G A intron_variant MELA-AU 2 136170600 136170600 single base substitution G A intron_variant MELA-AU 2 136170705 136170705 single base substitution C T intron_variant MELA-AU 2 136171091 136171091 single base substitution C T intron_variant MELA-AU 2 136171556 136171556 single base substitution C G intron_variant MELA-AU 2 136172078 136172078 single base substitution G A intron_variant MELA-AU 2 136172754 136172754 single base substitution G A intron_variant MELA-AU 2 136172913 136172913 single base substitution A T intron_variant MELA-AU 2 136173016 136173016 single base substitution G A intron_variant MELA-AU 2 136173091 136173091 single base substitution C T intron_variant MELA-AU 2 136173860 136173860 single base substitution C T intron_variant MELA-AU 2 136174427 136174427 single base substitution G A intron_variant MELA-AU 2 136174536 136174536 single base substitution G A intron_variant MELA-AU 2 136174757 136174757 single base substitution G A intron_variant MELA-AU 2 136175015 136175015 deletion of <=200bp A - intron_variant MELA-AU 2 136175041 136175041 single base substitution G A intron_variant MELA-AU 2 136175135 136175135 single base substitution G A intron_variant MELA-AU 2 136175179 136175179 single base substitution G A intron_variant MELA-AU 2 136175358 136175358 single base substitution G A intron_variant MELA-AU 2 136175999 136175999 single base substitution C T intron_variant MELA-AU 2 136176138 136176138 single base substitution G A intron_variant MELA-AU 2 136176538 136176538 single base substitution C T intron_variant MELA-AU 2 136176633 136176633 single base substitution G A intron_variant MELA-AU 2 136176777 136176777 single base substitution G A intron_variant MELA-AU 2 136176983 136176983 single base substitution G A intron_variant MELA-AU 2 136177297 136177297 single base substitution A T intron_variant MELA-AU 2 136177334 136177334 single base substitution A G intron_variant MELA-AU 2 136177415 136177415 single base substitution C T intron_variant MELA-AU 2 136177926 136177926 single base substitution G A intron_variant MELA-AU 2 136178106 136178106 single base substitution C T intron_variant MELA-AU 2 136178410 136178410 single base substitution G A intron_variant MELA-AU 2 136179157 136179157 single base substitution G A intron_variant MELA-AU 2 136179772 136179772 single base substitution C T intron_variant MELA-AU 2 136180063 136180063 single base substitution G A intron_variant MELA-AU 2 136180213 136180213 single base substitution G A intron_variant MELA-AU 2 136180595 136180595 single base substitution C T intron_variant MELA-AU 2 136181006 136181006 single base substitution A T intron_variant MELA-AU 2 136181008 136181008 insertion of <=200bp - A intron_variant MELA-AU 2 136181040 136181040 single base substitution T G intron_variant MELA-AU 2 136181186 136181186 single base substitution G A intron_variant MELA-AU 2 136181227 136181227 single base substitution G A intron_variant MELA-AU 2 136181310 136181310 single base substitution C T intron_variant MELA-AU 2 136181317 136181317 single base substitution C T intron_variant MELA-AU 2 136181338 136181338 single base substitution C T intron_variant MELA-AU 2 136182885 136182885 single base substitution C T intron_variant MELA-AU 2 136182996 136182996 single base substitution C A intron_variant MELA-AU 2 136183376 136183376 single base substitution A G intron_variant MELA-AU 2 136183648 136183648 single base substitution A G intron_variant MELA-AU 2 136183685 136183685 single base substitution C T intron_variant MELA-AU 2 136184176 136184176 single base substitution G A intron_variant MELA-AU 2 136184316 136184316 single base substitution G A intron_variant MELA-AU 2 136184941 136184941 single base substitution G A intron_variant MELA-AU 2 136185118 136185118 single base substitution C T intron_variant MELA-AU 2 136185136 136185136 single base substitution G A intron_variant MELA-AU 2 136185578 136185578 single base substitution G A intron_variant MELA-AU 2 136185615 136185615 single base substitution A G intron_variant MELA-AU 2 136186001 136186001 single base substitution A T intron_variant MELA-AU 2 136186616 136186616 single base substitution A G intron_variant MELA-AU 2 136186618 136186618 single base substitution G A intron_variant MELA-AU 2 136186715 136186715 single base substitution C T intron_variant MELA-AU 2 136186890 136186890 single base substitution G A intron_variant MELA-AU 2 136187189 136187189 single base substitution G A intron_variant MELA-AU 2 136187190 136187190 single base substitution G A intron_variant MELA-AU 2 136187282 136187282 single base substitution C T intron_variant MELA-AU 2 136187304 136187304 single base substitution G A intron_variant MELA-AU 2 136187399 136187399 single base substitution A G intron_variant MELA-AU 2 136187434 136187434 single base substitution G A intron_variant MELA-AU 2 136187525 136187525 single base substitution G A intron_variant MELA-AU 2 136187547 136187547 single base substitution G A intron_variant MELA-AU 2 136187609 136187609 single base substitution G A intron_variant MELA-AU 2 136187810 136187810 single base substitution C T intron_variant MELA-AU 2 136188474 136188474 single base substitution A T intron_variant MELA-AU 2 136188689 136188689 single base substitution A G intron_variant MELA-AU 2 136188788 136188788 single base substitution G A intron_variant MELA-AU 2 136188994 136188994 single base substitution G A intron_variant MELA-AU 2 136189853 136189853 single base substitution A T intron_variant MELA-AU 2 136190116 136190116 single base substitution A G intron_variant MELA-AU 2 136190267 136190267 single base substitution C T intron_variant MELA-AU 2 136190704 136190704 single base substitution G A intron_variant MELA-AU 2 136191051 136191051 single base substitution G A intron_variant MELA-AU 2 136191246 136191246 single base substitution A G intron_variant MELA-AU 2 136191276 136191276 single base substitution G C intron_variant MELA-AU 2 136191703 136191703 single base substitution G A intron_variant MELA-AU 2 136191742 136191742 single base substitution G A intron_variant MELA-AU 2 136192734 136192734 single base substitution C T intron_variant MELA-AU 2 136192889 136192889 single base substitution G A intron_variant MELA-AU 2 136192898 136192898 single base substitution C T intron_variant MELA-AU 2 136193067 136193068 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 136193382 136193382 single base substitution C T intron_variant MELA-AU 2 136193515 136193515 single base substitution T C intron_variant MELA-AU 2 136193828 136193828 single base substitution G A intron_variant MELA-AU 2 136193996 136193996 single base substitution A T intron_variant MELA-AU 2 136194593 136194593 single base substitution G A intron_variant MELA-AU 2 136194626 136194626 single base substitution T C intron_variant MELA-AU 2 136194926 136194926 single base substitution C T intron_variant MELA-AU 2 136195117 136195117 single base substitution C T intron_variant MELA-AU 2 136195214 136195214 single base substitution A G intron_variant MELA-AU 2 136195229 136195229 single base substitution G A intron_variant MELA-AU 2 136195780 136195780 single base substitution G A intron_variant MELA-AU 2 136195851 136195851 single base substitution G A intron_variant MELA-AU 2 136195869 136195869 single base substitution G A intron_variant MELA-AU 2 136195891 136195892 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 2 136196453 136196453 single base substitution G A intron_variant MELA-AU 2 136196759 136196759 single base substitution G A intron_variant MELA-AU 2 136196876 136196876 single base substitution G A intron_variant MELA-AU 2 136197095 136197095 single base substitution C T intron_variant MELA-AU 2 136197103 136197103 single base substitution C T intron_variant MELA-AU 2 136197402 136197402 single base substitution G A intron_variant MELA-AU 2 136197624 136197624 single base substitution G C intron_variant MELA-AU 2 136197676 136197676 single base substitution C T intron_variant MELA-AU 2 136197877 136197877 single base substitution G A intron_variant MELA-AU 2 136197896 136197896 single base substitution G A intron_variant MELA-AU 2 136198546 136198546 single base substitution G A intron_variant MELA-AU 2 136198783 136198783 single base substitution G A intron_variant MELA-AU 2 136199008 136199008 single base substitution G A intron_variant MELA-AU 2 136199137 136199137 single base substitution C T intron_variant MELA-AU 2 136199139 136199139 single base substitution C A intron_variant MELA-AU 2 136199225 136199225 single base substitution G A intron_variant MELA-AU 2 136199506 136199506 single base substitution G A intron_variant MELA-AU 2 136199549 136199549 single base substitution G A intron_variant MELA-AU 2 136199876 136199876 single base substitution G A intron_variant MELA-AU 2 136199919 136199919 single base substitution G A intron_variant MELA-AU 2 136199956 136199956 single base substitution G A intron_variant MELA-AU 2 136200131 136200131 single base substitution G A intron_variant MELA-AU 2 136200477 136200477 single base substitution G A intron_variant MELA-AU 2 136200616 136200616 single base substitution G A intron_variant MELA-AU 2 136200672 136200672 single base substitution G A intron_variant MELA-AU 2 136200673 136200673 single base substitution G A intron_variant MELA-AU 2 136200925 136200925 single base substitution G A intron_variant MELA-AU 2 136201259 136201259 single base substitution G A intron_variant MELA-AU 2 136201333 136201333 single base substitution G A intron_variant MELA-AU 2 136201507 136201507 single base substitution A G intron_variant MELA-AU 2 136201620 136201620 single base substitution G A intron_variant MELA-AU 2 136202048 136202048 single base substitution G A intron_variant MELA-AU 2 136202105 136202105 single base substitution A C intron_variant MELA-AU 2 136202158 136202158 single base substitution G A intron_variant MELA-AU 2 136202190 136202190 single base substitution G A intron_variant MELA-AU 2 136202520 136202520 single base substitution G A intron_variant MELA-AU 2 136202722 136202722 single base substitution G A intron_variant MELA-AU 2 136202811 136202811 single base substitution A C intron_variant MELA-AU 2 136202929 136202929 single base substitution G A intron_variant MELA-AU 2 136203010 136203010 single base substitution C T intron_variant MELA-AU 2 136203034 136203034 single base substitution G A intron_variant MELA-AU 2 136203354 136203354 single base substitution G A intron_variant MELA-AU 2 136203550 136203550 single base substitution G A intron_variant MELA-AU 2 136203876 136203876 single base substitution A G intron_variant MELA-AU 2 136203946 136203946 single base substitution G A intron_variant MELA-AU 2 136204007 136204007 single base substitution G A intron_variant MELA-AU 2 136204040 136204040 single base substitution G A intron_variant MELA-AU 2 136204447 136204447 single base substitution G A intron_variant MELA-AU 2 136204718 136204718 single base substitution G A intron_variant MELA-AU 2 136205439 136205439 single base substitution G A intron_variant MELA-AU 2 136205529 136205529 single base substitution T C intron_variant MELA-AU 2 136205651 136205651 single base substitution G A intron_variant MELA-AU 2 136205874 136205874 single base substitution T A intron_variant MELA-AU 2 136206345 136206345 single base substitution G A intron_variant MELA-AU 2 136206531 136206531 single base substitution G A intron_variant MELA-AU 2 136207018 136207018 single base substitution C G intron_variant MELA-AU 2 136207083 136207084 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 136207085 136207085 single base substitution G A intron_variant MELA-AU 2 136207684 136207684 single base substitution G A intron_variant MELA-AU 2 136207821 136207821 single base substitution G A intron_variant MELA-AU 2 136208156 136208156 single base substitution A C intron_variant MELA-AU 2 136208195 136208195 single base substitution G A intron_variant MELA-AU 2 136208234 136208234 single base substitution G A intron_variant MELA-AU 2 136208346 136208346 single base substitution G A intron_variant MELA-AU 2 136208418 136208418 single base substitution G A intron_variant MELA-AU 2 136208635 136208635 single base substitution C T intron_variant MELA-AU 2 136208720 136208720 single base substitution G A intron_variant MELA-AU 2 136208737 136208737 single base substitution A G intron_variant MELA-AU 2 136209195 136209195 single base substitution A G intron_variant MELA-AU 2 136209372 136209372 single base substitution G A intron_variant MELA-AU 2 136209808 136209808 single base substitution G A intron_variant MELA-AU 2 136209921 136209921 single base substitution T C intron_variant MELA-AU 2 136210882 136210882 single base substitution G A intron_variant MELA-AU 2 136210962 136210962 single base substitution G A intron_variant MELA-AU 2 136211405 136211405 single base substitution C G intron_variant MELA-AU 2 136211456 136211456 single base substitution A T intron_variant MELA-AU 2 136211579 136211579 single base substitution G A intron_variant MELA-AU 2 136211596 136211596 single base substitution G A intron_variant MELA-AU 2 136211832 136211832 single base substitution G A intron_variant MELA-AU 2 136212322 136212322 single base substitution C T intron_variant MELA-AU 2 136212721 136212721 single base substitution G A intron_variant MELA-AU 2 136213054 136213055 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 136213150 136213150 single base substitution G A intron_variant MELA-AU 2 136213635 136213635 single base substitution G A intron_variant MELA-AU 2 136213751 136213751 single base substitution G A intron_variant MELA-AU 2 136213757 136213757 single base substitution G A intron_variant MELA-AU 2 136213835 136213835 single base substitution G A intron_variant MELA-AU 2 136213960 136213960 single base substitution C T intron_variant MELA-AU 2 136213998 136213998 single base substitution G A intron_variant MELA-AU 2 136214235 136214235 single base substitution G T intron_variant MELA-AU 2 136214332 136214332 single base substitution G A intron_variant MELA-AU 2 136214519 136214519 single base substitution G A intron_variant MELA-AU 2 136214687 136214687 single base substitution T C intron_variant MELA-AU 2 136214755 136214755 single base substitution G A intron_variant MELA-AU 2 136214814 136214814 single base substitution G A intron_variant MELA-AU 2 136214991 136214991 single base substitution G A intron_variant MELA-AU 2 136215003 136215003 single base substitution G A intron_variant MELA-AU 2 136215144 136215144 single base substitution T A intron_variant MELA-AU 2 136215245 136215245 single base substitution G A intron_variant MELA-AU 2 136215273 136215273 single base substitution G A intron_variant MELA-AU 2 136216092 136216092 single base substitution G A intron_variant MELA-AU 2 136216099 136216099 single base substitution G A intron_variant MELA-AU 2 136216251 136216251 single base substitution G A intron_variant MELA-AU 2 136216301 136216301 single base substitution C G intron_variant MELA-AU 2 136216525 136216525 single base substitution A G intron_variant MELA-AU 2 136217117 136217117 single base substitution G A intron_variant MELA-AU 2 136217275 136217275 single base substitution G A intron_variant MELA-AU 2 136217537 136217537 single base substitution C T intron_variant MELA-AU 2 136217669 136217669 single base substitution G A intron_variant MELA-AU 2 136217681 136217681 single base substitution G A intron_variant MELA-AU 2 136218137 136218137 single base substitution G A intron_variant MELA-AU 2 136218727 136218727 single base substitution C T intron_variant MELA-AU 2 136218937 136218937 single base substitution C T intron_variant MELA-AU 2 136219067 136219067 single base substitution G A intron_variant MELA-AU 2 136219871 136219871 single base substitution A T intron_variant MELA-AU 2 136220264 136220264 single base substitution G A intron_variant MELA-AU 2 136220297 136220297 single base substitution G A intron_variant MELA-AU 2 136220494 136220494 single base substitution C T intron_variant MELA-AU 2 136220773 136220773 single base substitution A G intron_variant MELA-AU 2 136220930 136220930 single base substitution A G intron_variant MELA-AU 2 136220988 136220990 deletion of <=200bp TGT - intron_variant MELA-AU 2 136221333 136221334 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 2 136221518 136221518 single base substitution G A intron_variant MELA-AU 2 136221794 136221794 single base substitution G A intron_variant MELA-AU 2 136222276 136222276 single base substitution C T intron_variant MELA-AU 2 136222616 136222616 single base substitution G A intron_variant MELA-AU 2 136222994 136222994 single base substitution G A intron_variant MELA-AU 2 136223027 136223027 single base substitution G A intron_variant MELA-AU 2 136223160 136223160 single base substitution C A intron_variant MELA-AU 2 136223166 136223166 single base substitution A T intron_variant MELA-AU 2 136223482 136223482 single base substitution G A intron_variant MELA-AU 2 136223860 136223860 single base substitution G A intron_variant MELA-AU 2 136223885 136223886 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 136224054 136224054 single base substitution G A intron_variant MELA-AU 2 136224091 136224091 deletion of <=200bp T - intron_variant MELA-AU 2 136224513 136224513 single base substitution G A intron_variant MELA-AU 2 136224968 136224968 single base substitution C T intron_variant MELA-AU 2 136225201 136225201 single base substitution G A intron_variant MELA-AU 2 136225437 136225437 single base substitution C T intron_variant MELA-AU 2 136225692 136225692 single base substitution G A intron_variant MELA-AU 2 136225839 136225839 single base substitution C G intron_variant MELA-AU 2 136226231 136226231 single base substitution T A intron_variant MELA-AU 2 136226419 136226419 insertion of <=200bp - C intron_variant MELA-AU 2 136226674 136226674 single base substitution A T intron_variant MELA-AU 2 136227415 136227415 single base substitution T C intron_variant MELA-AU 2 136227440 136227440 single base substitution G A intron_variant MELA-AU 2 136227476 136227476 single base substitution G A intron_variant MELA-AU 2 136227716 136227716 single base substitution G A intron_variant MELA-AU 2 136228183 136228183 single base substitution G A intron_variant MELA-AU 2 136228641 136228641 single base substitution G A intron_variant MELA-AU 2 136229009 136229009 single base substitution T A intron_variant MELA-AU 2 136229331 136229331 single base substitution G A intron_variant MELA-AU 2 136229401 136229401 single base substitution G C intron_variant MELA-AU 2 136229632 136229632 single base substitution G A intron_variant MELA-AU 2 136229784 136229784 single base substitution G A intron_variant MELA-AU 2 136229887 136229887 single base substitution G A intron_variant MELA-AU 2 136229929 136229929 single base substitution G A intron_variant MELA-AU 2 136229964 136229964 single base substitution G A intron_variant MELA-AU 2 136230650 136230650 single base substitution A G intron_variant MELA-AU 2 136231039 136231039 single base substitution G A intron_variant MELA-AU 2 136231607 136231607 single base substitution G A intron_variant MELA-AU 2 136231686 136231686 single base substitution G A intron_variant MELA-AU 2 136231707 136231707 single base substitution A G intron_variant MELA-AU 2 136231918 136231918 single base substitution G T intron_variant MELA-AU 2 136232073 136232073 single base substitution G A intron_variant MELA-AU 2 136232080 136232080 single base substitution G A intron_variant MELA-AU 2 136232950 136232950 single base substitution G A intron_variant MELA-AU 2 136232973 136232973 single base substitution A G intron_variant MELA-AU 2 136233322 136233322 single base substitution A T intron_variant MELA-AU 2 136233837 136233837 single base substitution T C intron_variant MELA-AU 2 136233965 136233965 single base substitution G A intron_variant MELA-AU 2 136234408 136234408 single base substitution G A intron_variant MELA-AU 2 136234773 136234773 single base substitution G A intron_variant MELA-AU 2 136234805 136234805 single base substitution G A intron_variant MELA-AU 2 136234822 136234822 single base substitution G A intron_variant MELA-AU 2 136234839 136234839 single base substitution G A intron_variant MELA-AU 2 136235107 136235107 single base substitution G A intron_variant MELA-AU 2 136235214 136235214 single base substitution G A intron_variant MELA-AU 2 136235691 136235691 single base substitution A G intron_variant MELA-AU 2 136235707 136235707 single base substitution G A intron_variant MELA-AU 2 136235959 136235959 single base substitution C T intron_variant MELA-AU 2 136236228 136236228 single base substitution G A intron_variant MELA-AU 2 136236806 136236806 single base substitution G A intron_variant MELA-AU 2 136240216 136240216 single base substitution A G intron_variant MELA-AU 2 136240383 136240383 single base substitution G C intron_variant MELA-AU 2 136240869 136240869 single base substitution G C intron_variant MELA-AU 2 136241160 136241160 single base substitution G A intron_variant MELA-AU 2 136241365 136241365 single base substitution G A intron_variant MELA-AU 2 136241456 136241456 single base substitution G A intron_variant MELA-AU 2 136241640 136241640 single base substitution G A intron_variant MELA-AU 2 136241679 136241679 single base substitution C T intron_variant MELA-AU 2 136241734 136241734 single base substitution C T intron_variant MELA-AU 2 136241812 136241812 single base substitution A T intron_variant MELA-AU 2 136241858 136241858 single base substitution G A intron_variant MELA-AU 2 136241911 136241911 single base substitution C T intron_variant MELA-AU 2 136242182 136242182 single base substitution G A intron_variant MELA-AU 2 136242536 136242536 single base substitution G A intron_variant MELA-AU 2 136242560 136242560 single base substitution T G intron_variant MELA-AU 2 136242618 136242618 single base substitution A G intron_variant MELA-AU 2 136242624 136242624 single base substitution A T intron_variant MELA-AU 2 136242750 136242750 single base substitution A T intron_variant MELA-AU 2 136242755 136242755 single base substitution A T intron_variant MELA-AU 2 136242861 136242861 single base substitution G A intron_variant MELA-AU 2 136243620 136243620 single base substitution G A intron_variant MELA-AU 2 136243753 136243753 single base substitution T C intron_variant MELA-AU 2 136243898 136243898 single base substitution C T intron_variant MELA-AU 2 136244263 136244263 single base substitution C T intron_variant MELA-AU 2 136244274 136244274 single base substitution G A intron_variant MELA-AU 2 136244353 136244353 single base substitution G A intron_variant MELA-AU 2 136245265 136245265 single base substitution T A intron_variant MELA-AU 2 136245538 136245538 single base substitution G A intron_variant MELA-AU 2 136245778 136245778 single base substitution G A intron_variant MELA-AU 2 136245930 136245930 single base substitution G A intron_variant MELA-AU 2 136246430 136246430 single base substitution T A intron_variant MELA-AU 2 136247053 136247053 single base substitution G A intron_variant MELA-AU 2 136247311 136247311 single base substitution G A intron_variant MELA-AU 2 136247353 136247353 single base substitution G A intron_variant MELA-AU 2 136247562 136247562 single base substitution G A intron_variant MELA-AU 2 136247745 136247745 single base substitution G A intron_variant MELA-AU 2 136248074 136248074 single base substitution G A intron_variant MELA-AU 2 136248737 136248737 single base substitution G A intron_variant MELA-AU 2 136248852 136248854 multiple base substitution (>=2bp and <=200bp) AAG CTT intron_variant MELA-AU 2 136249009 136249009 single base substitution G A intron_variant MELA-AU 2 136249489 136249489 single base substitution G A intron_variant MELA-AU 2 136249605 136249605 single base substitution G A intron_variant MELA-AU 2 136250067 136250067 single base substitution T C intron_variant MELA-AU 2 136250385 136250385 single base substitution G A intron_variant MELA-AU 2 136250484 136250484 single base substitution G A intron_variant MELA-AU 2 136250816 136250816 single base substitution G A intron_variant MELA-AU 2 136251505 136251505 single base substitution G A intron_variant MELA-AU 2 136251954 136251954 single base substitution G A intron_variant MELA-AU 2 136251964 136251964 single base substitution G A intron_variant MELA-AU 2 136251979 136251979 single base substitution G A intron_variant MELA-AU 2 136252477 136252477 single base substitution G A intron_variant MELA-AU 2 136252731 136252731 single base substitution G A intron_variant MELA-AU 2 136253054 136253054 single base substitution T C intron_variant MELA-AU 2 136253309 136253309 single base substitution G A intron_variant MELA-AU 2 136253332 136253333 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 2 136254077 136254077 single base substitution A G intron_variant MELA-AU 2 136254093 136254093 single base substitution G A intron_variant MELA-AU 2 136254489 136254489 single base substitution G A intron_variant MELA-AU 2 136254944 136254944 single base substitution G A intron_variant MELA-AU 2 136255125 136255125 single base substitution G A intron_variant MELA-AU 2 136255238 136255238 single base substitution C G intron_variant MELA-AU 2 136255406 136255406 single base substitution G A intron_variant MELA-AU 2 136255421 136255421 single base substitution G A intron_variant MELA-AU 2 136255426 136255426 single base substitution G A intron_variant MELA-AU 2 136255728 136255728 single base substitution C T intron_variant MELA-AU 2 136256363 136256363 single base substitution G A intron_variant MELA-AU 2 136256411 136256411 single base substitution G A intron_variant MELA-AU 2 136256414 136256414 single base substitution G A intron_variant MELA-AU 2 136256572 136256572 single base substitution G A intron_variant MELA-AU 2 136256677 136256677 single base substitution G A intron_variant MELA-AU 2 136256789 136256789 single base substitution G A intron_variant MELA-AU 2 136257288 136257288 single base substitution G A intron_variant MELA-AU 2 136257542 136257542 single base substitution A G intron_variant MELA-AU 2 136257692 136257692 single base substitution G A intron_variant MELA-AU 2 136257717 136257717 single base substitution G A intron_variant MELA-AU 2 136257930 136257930 single base substitution A T intron_variant MELA-AU 2 136258675 136258675 single base substitution A G intron_variant MELA-AU 2 136258730 136258730 single base substitution G A intron_variant MELA-AU 2 136258794 136258794 single base substitution G A intron_variant MELA-AU 2 136259096 136259096 single base substitution G A intron_variant MELA-AU 2 136259283 136259283 single base substitution A G intron_variant MELA-AU 2 136259326 136259326 single base substitution G A intron_variant MELA-AU 2 136259687 136259687 single base substitution G A intron_variant MELA-AU 2 136259808 136259808 single base substitution G A intron_variant MELA-AU 2 136260002 136260002 single base substitution G A intron_variant MELA-AU 2 136260244 136260244 single base substitution G A intron_variant MELA-AU 2 136260671 136260671 single base substitution G A intron_variant MELA-AU 2 136260885 136260885 single base substitution G A intron_variant MELA-AU 2 136261044 136261044 single base substitution G A intron_variant MELA-AU 2 136261240 136261240 single base substitution G A intron_variant MELA-AU 2 136261891 136261891 single base substitution A T intron_variant MELA-AU 2 136261891 136261891 single base substitution A T splice_region_variant MELA-AU 2 136262497 136262497 single base substitution G A intron_variant MELA-AU 2 136262984 136262984 single base substitution A G intron_variant MELA-AU 2 136263147 136263147 single base substitution G A intron_variant MELA-AU 2 136263622 136263622 single base substitution G A intron_variant MELA-AU 2 136263653 136263653 single base substitution C T intron_variant MELA-AU 2 136263968 136263968 single base substitution G A intron_variant MELA-AU 2 136264002 136264002 single base substitution G A intron_variant MELA-AU 2 136264298 136264299 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 136264398 136264398 single base substitution G A intron_variant MELA-AU 2 136264940 136264940 single base substitution G A intron_variant MELA-AU 2 136265008 136265008 single base substitution A G intron_variant MELA-AU 2 136265533 136265533 single base substitution G A intron_variant MELA-AU 2 136265771 136265771 single base substitution G A intron_variant MELA-AU 2 136267808 136267808 single base substitution G A intron_variant MELA-AU 2 136267970 136267970 single base substitution T C intron_variant MELA-AU 2 136268106 136268107 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 136268525 136268525 single base substitution G A intron_variant MELA-AU 2 136268740 136268740 single base substitution T A intron_variant MELA-AU 2 136268970 136268970 single base substitution A G intron_variant MELA-AU 2 136269131 136269131 single base substitution T A intron_variant MELA-AU 2 136269391 136269391 single base substitution G A intron_variant MELA-AU 2 136269398 136269398 single base substitution G A intron_variant MELA-AU 2 136269472 136269472 single base substitution T C intron_variant MELA-AU 2 136269704 136269704 single base substitution G A intron_variant MELA-AU 2 136269731 136269731 single base substitution G A intron_variant MELA-AU 2 136269964 136269964 single base substitution A G intron_variant MELA-AU 2 136271135 136271135 single base substitution G A intron_variant MELA-AU 2 136271219 136271219 single base substitution G A intron_variant MELA-AU 2 136271257 136271257 single base substitution G A intron_variant MELA-AU 2 136271449 136271449 single base substitution G A intron_variant MELA-AU 2 136271450 136271450 single base substitution G A intron_variant MELA-AU 2 136271460 136271460 single base substitution G A intron_variant MELA-AU 2 136271714 136271714 single base substitution G A intron_variant MELA-AU 2 136272042 136272042 single base substitution G A intron_variant MELA-AU 2 136272291 136272291 single base substitution C T intron_variant MELA-AU 2 136272776 136272776 single base substitution G A intron_variant MELA-AU 2 136272954 136272954 single base substitution G A intron_variant MELA-AU 2 136273089 136273089 single base substitution T C intron_variant MELA-AU 2 136273422 136273422 single base substitution T A intron_variant MELA-AU 2 136273518 136273518 single base substitution G A intron_variant MELA-AU 2 136273844 136273844 single base substitution T G intron_variant MELA-AU 2 136273914 136273914 single base substitution G A intron_variant MELA-AU 2 136274654 136274654 single base substitution G A intron_variant MELA-AU 2 136274888 136274888 single base substitution G A intron_variant MELA-AU 2 136274933 136274933 single base substitution G A intron_variant MELA-AU 2 136275366 136275366 single base substitution G A intron_variant MELA-AU 2 136275583 136275583 single base substitution G A intron_variant MELA-AU 2 136275600 136275600 single base substitution G A intron_variant MELA-AU 2 136275634 136275634 single base substitution G A intron_variant MELA-AU 2 136275688 136275688 single base substitution T G intron_variant MELA-AU 2 136275969 136275969 single base substitution G A intron_variant MELA-AU 2 136276432 136276432 single base substitution G A intron_variant MELA-AU 2 136276503 136276503 single base substitution G A intron_variant MELA-AU 2 136276542 136276542 single base substitution G A intron_variant MELA-AU 2 136276744 136276744 single base substitution G A intron_variant MELA-AU 2 136277367 136277367 single base substitution G A intron_variant MELA-AU 2 136277534 136277534 single base substitution G A intron_variant MELA-AU 2 136277741 136277741 single base substitution G A intron_variant MELA-AU 2 136277978 136277978 single base substitution G A intron_variant MELA-AU 2 136278179 136278179 single base substitution G A intron_variant MELA-AU 2 136278345 136278345 single base substitution G A intron_variant MELA-AU 2 136278891 136278891 single base substitution G A intron_variant MELA-AU 2 136279170 136279170 single base substitution A C intron_variant MELA-AU 2 136279747 136279747 single base substitution G A intron_variant MELA-AU 2 136280412 136280412 single base substitution G A intron_variant MELA-AU 2 136281531 136281531 single base substitution G A intron_variant MELA-AU 2 136282181 136282181 single base substitution G A intron_variant MELA-AU 2 136282312 136282312 single base substitution G A intron_variant MELA-AU 2 136282471 136282471 single base substitution A G intron_variant MELA-AU 2 136282638 136282638 single base substitution G A intron_variant MELA-AU 2 136282855 136282855 single base substitution G A intron_variant MELA-AU 2 136283114 136283114 single base substitution G A intron_variant MELA-AU 2 136284454 136284454 single base substitution A C intron_variant MELA-AU 2 136284567 136284567 single base substitution G A intron_variant MELA-AU 2 136285008 136285008 single base substitution A G intron_variant MELA-AU 2 136285041 136285041 single base substitution A T intron_variant MELA-AU 2 136285202 136285202 single base substitution G A intron_variant MELA-AU 2 136285234 136285234 single base substitution T C intron_variant MELA-AU 2 136285378 136285378 single base substitution T G intron_variant MELA-AU 2 136285928 136285928 single base substitution G A intron_variant MELA-AU 2 136286936 136286936 single base substitution G A intron_variant MELA-AU 2 136288400 136288400 single base substitution T C intron_variant MELA-AU 2 136288400 136288400 single base substitution T C upstream_gene_variant MELA-AU 2 136288463 136288463 single base substitution G A intron_variant MELA-AU 2 136288463 136288463 single base substitution G A upstream_gene_variant MELA-AU 2 136288916 136288916 single base substitution G A upstream_gene_variant MELA-AU 2 136288940 136288940 single base substitution C T upstream_gene_variant MELA-AU 2 136288951 136288951 single base substitution G A upstream_gene_variant MELA-AU 2 136289017 136289017 single base substitution G A upstream_gene_variant MELA-AU 2 136290517 136290517 single base substitution A T upstream_gene_variant MELA-AU 2 136293028 136293028 single base substitution C T upstream_gene_variant MELA-AU 2 136293038 136293038 single base substitution C T upstream_gene_variant MELA-AU 2 136293070 136293070 insertion of <=200bp - AAAT upstream_gene_variant MELA-AU 2 136293070 136293073 deletion of <=200bp AAAT - upstream_gene_variant MELA-AU 2 136293114 136293114 single base substitution A G upstream_gene_variant MELA-AU 2 136293608 136293608 single base substitution C T upstream_gene_variant MELA-AU 2 136293703 136293703 single base substitution C T upstream_gene_variant ORCA-IN 2 135893675 135893675 single base substitution C T downstream_gene_variant ORCA-IN 2 135903870 135903870 single base substitution C T intron_variant ORCA-IN 2 135922263 135922263 single base substitution G C intron_variant ORCA-IN 2 135923706 135923706 single base substitution C T intron_variant ORCA-IN 2 135926423 135926423 single base substitution G A intron_variant ORCA-IN 2 135930681 135930681 single base substitution C T intron_variant ORCA-IN 2 135942886 135942886 single base substitution G A intron_variant ORCA-IN 2 135972677 135972678 deletion of <=200bp AC - intron_variant ORCA-IN 2 136001459 136001460 multiple base substitution (>=2bp and <=200bp) GA AG intron_variant ORCA-IN 2 136035222 136035222 single base substitution C T intron_variant ORCA-IN 2 136055699 136055699 single base substitution G A intron_variant ORCA-IN 2 136059899 136059899 single base substitution G A intron_variant ORCA-IN 2 136061922 136061922 single base substitution G A intron_variant ORCA-IN 2 136062066 136062066 single base substitution C G intron_variant ORCA-IN 2 136067957 136067957 single base substitution C T intron_variant ORCA-IN 2 136104454 136104454 single base substitution T C intron_variant ORCA-IN 2 136122777 136122777 single base substitution C G intron_variant ORCA-IN 2 136133451 136133451 single base substitution C A intron_variant ORCA-IN 2 136137017 136137017 single base substitution G T intron_variant ORCA-IN 2 136161751 136161751 single base substitution G T intron_variant ORCA-IN 2 136182943 136182943 single base substitution G C intron_variant ORCA-IN 2 136191398 136191398 single base substitution C G intron_variant ORCA-IN 2 136213504 136213504 single base substitution C T intron_variant ORCA-IN 2 136226695 136226695 single base substitution C T intron_variant ORCA-IN 2 136229593 136229593 single base substitution T C intron_variant ORCA-IN 2 136233467 136233467 single base substitution G A intron_variant ORCA-IN 2 136253426 136253426 single base substitution C G intron_variant ORCA-IN 2 136277725 136277725 single base substitution G A intron_variant ORCA-IN 2 136280822 136280822 single base substitution C G intron_variant ORCA-IN 2 136287371 136287371 single base substitution C G intron_variant OV-AU 2 135894522 135894522 single base substitution G T exon_variant OV-AU 2 135910324 135910324 single base substitution C G intron_variant OV-AU 2 135911959 135911959 single base substitution T C intron_variant OV-AU 2 135922862 135922862 single base substitution C A intron_variant OV-AU 2 135925548 135925548 single base substitution A G intron_variant OV-AU 2 135933532 135933532 single base substitution G T intron_variant OV-AU 2 135942739 135942739 single base substitution C T intron_variant OV-AU 2 135964760 135964760 single base substitution A T intron_variant OV-AU 2 135964761 135964761 single base substitution T A intron_variant OV-AU 2 135968981 135968981 single base substitution C T intron_variant OV-AU 2 135968981 135968981 single base substitution C T upstream_gene_variant OV-AU 2 135969476 135969476 single base substitution G C intron_variant OV-AU 2 135969476 135969476 single base substitution G C upstream_gene_variant OV-AU 2 135973523 135973523 single base substitution G A intron_variant OV-AU 2 135977815 135977815 single base substitution G A downstream_gene_variant OV-AU 2 135977815 135977815 single base substitution G A intron_variant OV-AU 2 135979926 135979926 single base substitution C T downstream_gene_variant OV-AU 2 135979926 135979926 single base substitution C T intron_variant OV-AU 2 135980551 135980551 single base substitution G T downstream_gene_variant OV-AU 2 135980551 135980551 single base substitution G T intron_variant OV-AU 2 135992411 135992411 single base substitution G C intron_variant OV-AU 2 135993461 135993461 single base substitution C G intron_variant OV-AU 2 136015637 136015637 single base substitution C T intron_variant OV-AU 2 136018209 136018209 single base substitution T A intron_variant OV-AU 2 136032148 136032148 single base substitution C G intron_variant OV-AU 2 136032942 136032942 single base substitution C T intron_variant OV-AU 2 136041365 136041365 single base substitution T C intron_variant OV-AU 2 136044131 136044131 single base substitution G A intron_variant OV-AU 2 136047812 136047812 single base substitution A T intron_variant OV-AU 2 136050258 136050258 single base substitution G A intron_variant OV-AU 2 136050358 136050358 single base substitution G C intron_variant OV-AU 2 136051796 136051796 single base substitution G C intron_variant OV-AU 2 136053258 136053258 single base substitution T G intron_variant OV-AU 2 136054191 136054191 single base substitution G A intron_variant OV-AU 2 136054374 136054374 single base substitution C G intron_variant OV-AU 2 136058028 136058028 single base substitution T C intron_variant OV-AU 2 136061912 136061912 single base substitution A T intron_variant OV-AU 2 136068444 136068444 single base substitution C T intron_variant OV-AU 2 136070781 136070781 single base substitution G A intron_variant OV-AU 2 136079571 136079571 single base substitution T C intron_variant OV-AU 2 136083378 136083378 single base substitution G T intron_variant OV-AU 2 136084935 136084935 single base substitution T C intron_variant OV-AU 2 136088455 136088455 single base substitution G A intron_variant OV-AU 2 136090475 136090475 single base substitution A C intron_variant OV-AU 2 136093268 136093268 single base substitution A G intron_variant OV-AU 2 136095553 136095553 single base substitution T G intron_variant OV-AU 2 136095573 136095573 single base substitution C G intron_variant OV-AU 2 136097276 136097276 single base substitution G T intron_variant OV-AU 2 136100683 136100683 single base substitution G A downstream_gene_variant OV-AU 2 136100683 136100683 single base substitution G A intron_variant OV-AU 2 136107712 136107712 single base substitution C T downstream_gene_variant OV-AU 2 136107712 136107712 single base substitution C T exon_variant OV-AU 2 136107712 136107712 single base substitution C T missense_variant A145T 433G>A OV-AU 2 136109795 136109795 single base substitution G A downstream_gene_variant OV-AU 2 136109795 136109795 single base substitution G A intron_variant OV-AU 2 136118158 136118158 single base substitution C T intron_variant OV-AU 2 136120759 136120759 single base substitution G C intron_variant OV-AU 2 136125132 136125132 single base substitution A G intron_variant OV-AU 2 136129075 136129075 single base substitution C G intron_variant OV-AU 2 136130200 136130200 single base substitution C T intron_variant OV-AU 2 136141326 136141326 single base substitution T C intron_variant OV-AU 2 136141327 136141327 single base substitution G A intron_variant OV-AU 2 136141394 136141394 single base substitution T A intron_variant OV-AU 2 136141690 136141690 single base substitution G A intron_variant OV-AU 2 136144281 136144281 single base substitution A C intron_variant OV-AU 2 136146231 136146231 single base substitution G T intron_variant OV-AU 2 136166681 136166681 single base substitution C T intron_variant OV-AU 2 136167205 136167205 single base substitution C A intron_variant OV-AU 2 136168821 136168821 single base substitution C A intron_variant OV-AU 2 136169049 136169049 single base substitution C T intron_variant OV-AU 2 136176202 136176202 single base substitution A C intron_variant OV-AU 2 136179717 136179717 single base substitution C T intron_variant OV-AU 2 136183218 136183218 single base substitution G C intron_variant OV-AU 2 136185955 136185955 single base substitution C T intron_variant OV-AU 2 136186728 136186728 single base substitution G C intron_variant OV-AU 2 136189815 136189815 single base substitution C A intron_variant OV-AU 2 136192316 136192316 single base substitution C G intron_variant OV-AU 2 136203973 136203973 single base substitution G T intron_variant OV-AU 2 136210193 136210193 single base substitution A G intron_variant OV-AU 2 136213165 136213165 single base substitution T C intron_variant OV-AU 2 136216279 136216279 single base substitution A G intron_variant OV-AU 2 136219038 136219038 single base substitution G T intron_variant OV-AU 2 136223651 136223651 single base substitution C T intron_variant OV-AU 2 136224432 136224432 single base substitution G A intron_variant OV-AU 2 136237023 136237023 single base substitution G A intron_variant OV-AU 2 136239092 136239092 single base substitution G C intron_variant OV-AU 2 136242719 136242719 single base substitution A C intron_variant OV-AU 2 136242927 136242927 single base substitution C T intron_variant OV-AU 2 136250476 136250476 single base substitution G A intron_variant OV-AU 2 136254859 136254859 single base substitution T A intron_variant OV-AU 2 136255420 136255420 single base substitution C T intron_variant OV-AU 2 136257540 136257540 single base substitution C A intron_variant OV-AU 2 136276371 136276371 single base substitution G A intron_variant OV-AU 2 136277318 136277318 single base substitution T G intron_variant OV-AU 2 136284773 136284773 single base substitution C G intron_variant OV-AU 2 136291762 136291762 single base substitution A G upstream_gene_variant OV-AU 2 136291903 136291903 single base substitution C A upstream_gene_variant OV-US 2 135926294 135926294 single base substitution C T intron_variant PACA-AU 2 135891826 135891826 single base substitution T C downstream_gene_variant PACA-AU 2 135899576 135899576 single base substitution A G intron_variant PACA-AU 2 135903346 135903346 single base substitution G A intron_variant PACA-AU 2 135905234 135905234 single base substitution T A intron_variant PACA-AU 2 135907627 135907627 single base substitution C T intron_variant PACA-AU 2 135911199 135911199 single base substitution A T intron_variant PACA-AU 2 135912092 135912092 single base substitution G A intron_variant PACA-AU 2 135921536 135921536 single base substitution C G intron_variant PACA-AU 2 135926792 135926792 single base substitution T A intron_variant PACA-AU 2 135932754 135932754 single base substitution T C intron_variant PACA-AU 2 135934946 135934946 single base substitution C T intron_variant PACA-AU 2 135935441 135935441 single base substitution C T intron_variant PACA-AU 2 135936360 135936360 single base substitution G A intron_variant PACA-AU 2 135936590 135936590 insertion of <=200bp - TCCCAAG intron_variant PACA-AU 2 135938952 135938952 single base substitution T G intron_variant PACA-AU 2 135947044 135947045 deletion of <=200bp AT - intron_variant PACA-AU 2 135949249 135949249 deletion of <=200bp A - intron_variant PACA-AU 2 135960473 135960473 single base substitution G A 3_prime_UTR_variant PACA-AU 2 135960473 135960473 single base substitution G A exon_variant PACA-AU 2 135960473 135960473 single base substitution G A missense_variant P1022S 3064C>T PACA-AU 2 135960473 135960473 single base substitution G A missense_variant P1024S 3070C>T PACA-AU 2 135962234 135962234 single base substitution C T intron_variant PACA-AU 2 135962238 135962238 single base substitution T C intron_variant PACA-AU 2 135964760 135964760 single base substitution A T intron_variant PACA-AU 2 135964761 135964761 single base substitution T A intron_variant PACA-AU 2 135969167 135969167 single base substitution C G intron_variant PACA-AU 2 135969167 135969167 single base substitution C G upstream_gene_variant PACA-AU 2 135970130 135970130 single base substitution C T intron_variant PACA-AU 2 135971061 135971061 single base substitution C G intron_variant PACA-AU 2 135974171 135974171 single base substitution A G intron_variant PACA-AU 2 135974299 135974300 deletion of <=200bp CG - intron_variant PACA-AU 2 135976432 135976432 single base substitution G A intron_variant PACA-AU 2 135982067 135982067 single base substitution T G 3_prime_UTR_variant PACA-AU 2 135982067 135982067 single base substitution T G exon_variant PACA-AU 2 135982067 135982067 single base substitution T G missense_variant T725P 2173A>C PACA-AU 2 135982067 135982067 single base substitution T G missense_variant T727P 2179A>C PACA-AU 2 135984169 135984169 single base substitution A G intron_variant PACA-AU 2 135987587 135987587 single base substitution T C intron_variant PACA-AU 2 135987587 135987587 single base substitution T C upstream_gene_variant PACA-AU 2 135994373 135994373 single base substitution G C intron_variant PACA-AU 2 135995780 135995780 single base substitution G A intron_variant PACA-AU 2 135997512 135997512 single base substitution C A intron_variant PACA-AU 2 135997512 135997512 single base substitution C A upstream_gene_variant PACA-AU 2 136003612 136003612 single base substitution T C intron_variant PACA-AU 2 136003613 136003613 single base substitution T C intron_variant PACA-AU 2 136007338 136007338 single base substitution G A intron_variant PACA-AU 2 136010462 136010462 single base substitution G A intron_variant PACA-AU 2 136012019 136012019 single base substitution A T intron_variant PACA-AU 2 136012360 136012360 single base substitution G A intron_variant PACA-AU 2 136012472 136012472 single base substitution C T intron_variant PACA-AU 2 136012854 136012854 single base substitution A T intron_variant PACA-AU 2 136012868 136012868 single base substitution C T intron_variant PACA-AU 2 136019420 136019420 single base substitution T C intron_variant PACA-AU 2 136023116 136023116 single base substitution A T 3_prime_UTR_variant PACA-AU 2 136023116 136023116 single base substitution A T downstream_gene_variant PACA-AU 2 136023116 136023116 single base substitution A T synonymous_variant A509A 1527T>A PACA-AU 2 136023296 136023296 single base substitution C T downstream_gene_variant PACA-AU 2 136023296 136023296 single base substitution C T intron_variant PACA-AU 2 136024865 136024865 single base substitution A C downstream_gene_variant PACA-AU 2 136024865 136024865 single base substitution A C intron_variant PACA-AU 2 136025981 136025981 deletion of <=200bp C - downstream_gene_variant PACA-AU 2 136025981 136025981 deletion of <=200bp C - intron_variant PACA-AU 2 136033311 136033311 single base substitution C A exon_variant PACA-AU 2 136033311 136033311 single base substitution C A missense_variant K327N 981G>T PACA-AU 2 136035508 136035508 single base substitution A C intron_variant PACA-AU 2 136049144 136049144 insertion of <=200bp - TTTTA intron_variant PACA-AU 2 136050018 136050018 insertion of <=200bp - T intron_variant PACA-AU 2 136053497 136053497 single base substitution C T intron_variant PACA-AU 2 136061844 136061844 single base substitution C T intron_variant PACA-AU 2 136062745 136062745 single base substitution G A intron_variant PACA-AU 2 136063733 136063733 insertion of <=200bp - T intron_variant PACA-AU 2 136063801 136063801 single base substitution A C intron_variant PACA-AU 2 136065778 136065778 single base substitution C A intron_variant PACA-AU 2 136067431 136067431 single base substitution C T intron_variant PACA-AU 2 136070365 136070365 single base substitution C T intron_variant PACA-AU 2 136071604 136071604 single base substitution T G intron_variant PACA-AU 2 136073548 136073548 single base substitution C T intron_variant PACA-AU 2 136074991 136074991 single base substitution G T intron_variant PACA-AU 2 136081341 136081341 single base substitution T C intron_variant PACA-AU 2 136086904 136086904 single base substitution G T intron_variant PACA-AU 2 136099977 136099977 single base substitution A T downstream_gene_variant PACA-AU 2 136099977 136099977 single base substitution A T intron_variant PACA-AU 2 136102293 136102293 single base substitution G A downstream_gene_variant PACA-AU 2 136102293 136102293 single base substitution G A intron_variant PACA-AU 2 136104724 136104724 single base substitution C T intron_variant PACA-AU 2 136110625 136110625 single base substitution A T downstream_gene_variant PACA-AU 2 136110625 136110625 single base substitution A T intron_variant PACA-AU 2 136111774 136111774 single base substitution A T intron_variant PACA-AU 2 136111774 136111774 single base substitution A T upstream_gene_variant PACA-AU 2 136112471 136112471 single base substitution C A intron_variant PACA-AU 2 136112471 136112471 single base substitution C A upstream_gene_variant PACA-AU 2 136113972 136113972 single base substitution T C intron_variant PACA-AU 2 136113972 136113972 single base substitution T C upstream_gene_variant PACA-AU 2 136117930 136117930 single base substitution G A intron_variant PACA-AU 2 136119895 136119901 deletion of <=200bp AAGACAG - intron_variant PACA-AU 2 136120370 136120370 single base substitution G C intron_variant PACA-AU 2 136121433 136121433 single base substitution G A intron_variant PACA-AU 2 136128450 136128450 single base substitution G A intron_variant PACA-AU 2 136130133 136130133 single base substitution G A intron_variant PACA-AU 2 136130993 136130993 deletion of <=200bp A - intron_variant PACA-AU 2 136138789 136138789 single base substitution G A intron_variant PACA-AU 2 136139028 136139043 deletion of <=200bp TCTGGAGACTTAAATG - intron_variant PACA-AU 2 136141216 136141216 single base substitution C G intron_variant PACA-AU 2 136154184 136154184 single base substitution G A intron_variant PACA-AU 2 136154186 136154186 single base substitution C A intron_variant PACA-AU 2 136154362 136154362 single base substitution T C intron_variant PACA-AU 2 136157226 136157226 single base substitution A C intron_variant PACA-AU 2 136157314 136157314 single base substitution T A intron_variant PACA-AU 2 136160985 136160985 single base substitution C T intron_variant PACA-AU 2 136162423 136162423 single base substitution C T intron_variant PACA-AU 2 136163726 136163726 single base substitution C A intron_variant PACA-AU 2 136166644 136166644 single base substitution C T intron_variant PACA-AU 2 136169698 136169698 single base substitution G A intron_variant PACA-AU 2 136170698 136170698 single base substitution C G intron_variant PACA-AU 2 136171961 136171961 single base substitution C G intron_variant PACA-AU 2 136176577 136176577 single base substitution G A intron_variant PACA-AU 2 136178603 136178603 single base substitution A T intron_variant PACA-AU 2 136178903 136178903 single base substitution C T intron_variant PACA-AU 2 136179071 136179071 single base substitution C A intron_variant PACA-AU 2 136180074 136180074 single base substitution C T intron_variant PACA-AU 2 136183179 136183179 single base substitution A G intron_variant PACA-AU 2 136188946 136188946 single base substitution A G intron_variant PACA-AU 2 136190957 136190957 deletion of <=200bp A - intron_variant PACA-AU 2 136194001 136194001 single base substitution C T intron_variant PACA-AU 2 136194353 136194353 single base substitution C A intron_variant PACA-AU 2 136196605 136196605 single base substitution C T intron_variant PACA-AU 2 136197826 136197826 single base substitution T C intron_variant PACA-AU 2 136198005 136198005 single base substitution C T intron_variant PACA-AU 2 136207645 136207645 single base substitution C T intron_variant PACA-AU 2 136207785 136207785 single base substitution G A intron_variant PACA-AU 2 136216564 136216564 single base substitution C A intron_variant PACA-AU 2 136216816 136216816 single base substitution T G intron_variant PACA-AU 2 136217694 136217694 single base substitution G A intron_variant PACA-AU 2 136224927 136224971 deletion of <=200bp TTCAGGTATATCCGGGATACTTAAAGGACAATGTGCACAAGCAAA - intron_variant PACA-AU 2 136226744 136226744 single base substitution C G intron_variant PACA-AU 2 136229736 136229736 single base substitution C A intron_variant PACA-AU 2 136231008 136231008 single base substitution C T intron_variant PACA-AU 2 136233294 136233294 single base substitution C T intron_variant PACA-AU 2 136241040 136241040 single base substitution T G intron_variant PACA-AU 2 136241102 136241102 single base substitution C G intron_variant PACA-AU 2 136245154 136245154 single base substitution T G intron_variant PACA-AU 2 136246477 136246477 single base substitution A C intron_variant PACA-AU 2 136253423 136253423 single base substitution C T intron_variant PACA-AU 2 136254699 136254699 single base substitution A G intron_variant PACA-AU 2 136262558 136262558 single base substitution A G intron_variant PACA-AU 2 136262579 136262579 single base substitution T A intron_variant PACA-AU 2 136262610 136262610 single base substitution C G intron_variant PACA-AU 2 136263542 136263542 single base substitution T A intron_variant PACA-AU 2 136265529 136265529 single base substitution G T intron_variant PACA-AU 2 136265986 136265986 single base substitution C A intron_variant PACA-AU 2 136276303 136276303 single base substitution C A intron_variant PACA-AU 2 136278106 136278106 single base substitution T A intron_variant PACA-AU 2 136285498 136285498 single base substitution G C intron_variant PACA-AU 2 136288932 136288932 single base substitution G T upstream_gene_variant PACA-AU 2 136288960 136288960 single base substitution T A upstream_gene_variant PACA-CA 2 135890057 135890057 single base substitution T G downstream_gene_variant PACA-CA 2 135892868 135892868 single base substitution T C downstream_gene_variant PACA-CA 2 135893401 135893401 single base substitution C T downstream_gene_variant PACA-CA 2 135898232 135898232 single base substitution T G intron_variant PACA-CA 2 135898996 135898996 single base substitution A G intron_variant PACA-CA 2 135899298 135899298 single base substitution T A intron_variant PACA-CA 2 135903538 135903538 single base substitution A G intron_variant PACA-CA 2 135903610 135903610 single base substitution T C intron_variant PACA-CA 2 135905124 135905124 single base substitution C G intron_variant PACA-CA 2 135911432 135911432 single base substitution C T intron_variant PACA-CA 2 135914040 135914040 single base substitution A G intron_variant PACA-CA 2 135916202 135916202 single base substitution T C intron_variant PACA-CA 2 135917138 135917138 single base substitution A T intron_variant PACA-CA 2 135925471 135925471 single base substitution A G intron_variant PACA-CA 2 135926215 135926215 single base substitution G A intron_variant PACA-CA 2 135931074 135931074 single base substitution C T intron_variant PACA-CA 2 135934002 135934002 single base substitution T C intron_variant PACA-CA 2 135934628 135934628 single base substitution A G intron_variant PACA-CA 2 135935508 135935508 single base substitution A G intron_variant PACA-CA 2 135938446 135938446 single base substitution C T intron_variant PACA-CA 2 135939935 135939935 single base substitution C T intron_variant PACA-CA 2 135945300 135945300 single base substitution C G intron_variant PACA-CA 2 135947786 135947786 insertion of <=200bp - TTTA intron_variant PACA-CA 2 135948382 135948382 single base substitution G A intron_variant PACA-CA 2 135955004 135955004 deletion of <=200bp C - 3_prime_UTR_variant PACA-CA 2 135955004 135955004 deletion of <=200bp C - downstream_gene_variant PACA-CA 2 135955004 135955004 deletion of <=200bp C - intron_variant PACA-CA 2 135955135 135955135 single base substitution A G 3_prime_UTR_variant PACA-CA 2 135955135 135955135 single base substitution A G downstream_gene_variant PACA-CA 2 135955135 135955135 single base substitution A G intron_variant PACA-CA 2 135957956 135957956 single base substitution A T 3_prime_UTR_variant PACA-CA 2 135957956 135957956 single base substitution A T downstream_gene_variant PACA-CA 2 135957956 135957956 single base substitution A T exon_variant PACA-CA 2 135957956 135957956 single base substitution A T missense_variant S1064T 3190T>A PACA-CA 2 135957956 135957956 single base substitution A T missense_variant S1066T 3196T>A PACA-CA 2 135961904 135961904 single base substitution A G intron_variant PACA-CA 2 135962220 135962220 single base substitution A T intron_variant PACA-CA 2 135963984 135963984 single base substitution A G intron_variant PACA-CA 2 135964420 135964420 single base substitution G A intron_variant PACA-CA 2 135964760 135964760 single base substitution A T intron_variant PACA-CA 2 135964761 135964761 single base substitution T A intron_variant PACA-CA 2 135971741 135971741 single base substitution C T intron_variant PACA-CA 2 135977143 135977143 single base substitution C A downstream_gene_variant PACA-CA 2 135977143 135977143 single base substitution C A intron_variant PACA-CA 2 135977151 135977151 single base substitution G T downstream_gene_variant PACA-CA 2 135977151 135977151 single base substitution G T intron_variant PACA-CA 2 135977723 135977723 single base substitution C T downstream_gene_variant PACA-CA 2 135977723 135977723 single base substitution C T intron_variant PACA-CA 2 135978161 135978161 single base substitution C T downstream_gene_variant PACA-CA 2 135978161 135978161 single base substitution C T intron_variant PACA-CA 2 135983985 135983985 single base substitution C A intron_variant PACA-CA 2 135988150 135988150 single base substitution G A 3_prime_UTR_variant PACA-CA 2 135988150 135988150 single base substitution G A exon_variant PACA-CA 2 135988150 135988150 single base substitution G A synonymous_variant L629L 1887C>T PACA-CA 2 135988150 135988150 single base substitution G A upstream_gene_variant PACA-CA 2 135988152 135988152 single base substitution G A 3_prime_UTR_variant PACA-CA 2 135988152 135988152 single base substitution G A exon_variant PACA-CA 2 135988152 135988152 single base substitution G A missense_variant L629F 1885C>T PACA-CA 2 135988152 135988152 single base substitution G A upstream_gene_variant PACA-CA 2 135991065 135991065 single base substitution A T intron_variant PACA-CA 2 135991282 135991282 single base substitution G C intron_variant PACA-CA 2 135996543 135996543 single base substitution A G intron_variant PACA-CA 2 135996543 135996543 single base substitution A G upstream_gene_variant PACA-CA 2 135998195 135998195 single base substitution T A intron_variant PACA-CA 2 135998195 135998195 single base substitution T A upstream_gene_variant PACA-CA 2 135998578 135998578 single base substitution T A intron_variant PACA-CA 2 135998578 135998578 single base substitution T A upstream_gene_variant PACA-CA 2 136000042 136000042 single base substitution A T intron_variant PACA-CA 2 136000042 136000042 single base substitution A T upstream_gene_variant PACA-CA 2 136000672 136000672 single base substitution C G intron_variant PACA-CA 2 136000672 136000672 single base substitution C G upstream_gene_variant PACA-CA 2 136000955 136000955 single base substitution C T intron_variant PACA-CA 2 136000955 136000955 single base substitution C T upstream_gene_variant PACA-CA 2 136002239 136002239 insertion of <=200bp - A intron_variant PACA-CA 2 136004543 136004543 single base substitution C A intron_variant PACA-CA 2 136004644 136004644 single base substitution G T intron_variant PACA-CA 2 136015249 136015249 single base substitution G A intron_variant PACA-CA 2 136015597 136015597 single base substitution G A intron_variant PACA-CA 2 136020309 136020309 single base substitution C A intron_variant PACA-CA 2 136028911 136028911 single base substitution T C exon_variant PACA-CA 2 136028911 136028911 single base substitution T C intron_variant PACA-CA 2 136031793 136031793 single base substitution T C intron_variant PACA-CA 2 136034922 136034922 single base substitution C T intron_variant PACA-CA 2 136038931 136038931 single base substitution A T intron_variant PACA-CA 2 136040142 136040142 single base substitution C T intron_variant PACA-CA 2 136040211 136040211 single base substitution T C intron_variant PACA-CA 2 136040618 136040618 single base substitution G C intron_variant PACA-CA 2 136041555 136041555 deletion of <=200bp A - intron_variant PACA-CA 2 136042603 136042603 single base substitution C T intron_variant PACA-CA 2 136047216 136047216 single base substitution T G intron_variant PACA-CA 2 136049711 136049711 single base substitution C G intron_variant PACA-CA 2 136051699 136051699 single base substitution T C intron_variant PACA-CA 2 136054112 136054112 single base substitution T C intron_variant PACA-CA 2 136057379 136057379 single base substitution G A intron_variant PACA-CA 2 136061523 136061523 single base substitution A C intron_variant PACA-CA 2 136065197 136065197 single base substitution G C intron_variant PACA-CA 2 136066245 136066245 single base substitution A T intron_variant PACA-CA 2 136066753 136066753 single base substitution G A intron_variant PACA-CA 2 136069337 136069337 single base substitution A T intron_variant PACA-CA 2 136069727 136069727 deletion of <=200bp T - intron_variant PACA-CA 2 136071242 136071242 single base substitution T G intron_variant PACA-CA 2 136074861 136074861 single base substitution G A intron_variant PACA-CA 2 136081247 136081247 deletion of <=200bp A - intron_variant PACA-CA 2 136081870 136081870 single base substitution C G intron_variant PACA-CA 2 136083028 136083028 single base substitution G A intron_variant PACA-CA 2 136085881 136085881 single base substitution T A intron_variant PACA-CA 2 136085882 136085882 single base substitution G T intron_variant PACA-CA 2 136088058 136088058 single base substitution C T intron_variant PACA-CA 2 136093901 136093901 single base substitution A G intron_variant PACA-CA 2 136096099 136096099 single base substitution A G intron_variant PACA-CA 2 136097979 136097979 single base substitution T C downstream_gene_variant PACA-CA 2 136097979 136097979 single base substitution T C intron_variant PACA-CA 2 136098720 136098720 single base substitution G C downstream_gene_variant PACA-CA 2 136098720 136098720 single base substitution G C intron_variant PACA-CA 2 136099101 136099101 single base substitution C T downstream_gene_variant PACA-CA 2 136099101 136099101 single base substitution C T intron_variant PACA-CA 2 136099233 136099233 single base substitution C T downstream_gene_variant PACA-CA 2 136099233 136099233 single base substitution C T intron_variant PACA-CA 2 136100205 136100205 single base substitution A T downstream_gene_variant PACA-CA 2 136100205 136100205 single base substitution A T intron_variant PACA-CA 2 136101749 136101749 insertion of <=200bp - T downstream_gene_variant PACA-CA 2 136101749 136101749 insertion of <=200bp - T intron_variant PACA-CA 2 136104565 136104565 single base substitution G C intron_variant PACA-CA 2 136107054 136107054 single base substitution C T downstream_gene_variant PACA-CA 2 136107054 136107054 single base substitution C T intron_variant PACA-CA 2 136108913 136108913 single base substitution C T downstream_gene_variant PACA-CA 2 136108913 136108913 single base substitution C T intron_variant PACA-CA 2 136116731 136116731 single base substitution T C intron_variant PACA-CA 2 136117819 136117819 single base substitution C T intron_variant PACA-CA 2 136119517 136119517 single base substitution C T intron_variant PACA-CA 2 136119592 136119592 single base substitution C A intron_variant PACA-CA 2 136120226 136120226 single base substitution T C intron_variant PACA-CA 2 136122787 136122787 single base substitution G T intron_variant PACA-CA 2 136126635 136126635 single base substitution A G intron_variant PACA-CA 2 136128762 136128762 single base substitution G T intron_variant PACA-CA 2 136128872 136128872 single base substitution C T intron_variant PACA-CA 2 136130698 136130698 insertion of <=200bp - T intron_variant PACA-CA 2 136137750 136137750 single base substitution C T intron_variant PACA-CA 2 136138782 136138782 single base substitution C A intron_variant PACA-CA 2 136141563 136141563 single base substitution C T intron_variant PACA-CA 2 136144845 136144845 single base substitution T C intron_variant PACA-CA 2 136145724 136145724 single base substitution G A intron_variant PACA-CA 2 136147135 136147135 single base substitution C T intron_variant PACA-CA 2 136148568 136148568 single base substitution C G intron_variant PACA-CA 2 136149180 136149180 single base substitution C T intron_variant PACA-CA 2 136149400 136149400 single base substitution C T intron_variant PACA-CA 2 136150833 136150833 single base substitution A G intron_variant PACA-CA 2 136151510 136151510 single base substitution C A intron_variant PACA-CA 2 136152224 136152224 single base substitution A G intron_variant PACA-CA 2 136152886 136152886 single base substitution T C intron_variant PACA-CA 2 136153434 136153434 single base substitution C A intron_variant PACA-CA 2 136156336 136156336 single base substitution G A intron_variant PACA-CA 2 136160658 136160658 single base substitution G A intron_variant PACA-CA 2 136161267 136161267 single base substitution C A intron_variant PACA-CA 2 136162423 136162423 single base substitution C T intron_variant PACA-CA 2 136162900 136162900 single base substitution G A intron_variant PACA-CA 2 136163413 136163413 single base substitution T C intron_variant PACA-CA 2 136165726 136165726 single base substitution T C intron_variant PACA-CA 2 136166330 136166330 single base substitution G T intron_variant PACA-CA 2 136167045 136167045 single base substitution C G intron_variant PACA-CA 2 136167327 136167327 single base substitution G A intron_variant PACA-CA 2 136167561 136167564 deletion of <=200bp ACAA - intron_variant PACA-CA 2 136168484 136168484 single base substitution C T intron_variant PACA-CA 2 136171352 136171352 single base substitution A G intron_variant PACA-CA 2 136174609 136174609 single base substitution C T intron_variant PACA-CA 2 136175587 136175587 single base substitution G A intron_variant PACA-CA 2 136175700 136175700 deletion of <=200bp A - intron_variant PACA-CA 2 136176576 136176576 single base substitution C T intron_variant PACA-CA 2 136177093 136177093 single base substitution A G intron_variant PACA-CA 2 136178291 136178291 single base substitution C A intron_variant PACA-CA 2 136179871 136179871 single base substitution C T intron_variant PACA-CA 2 136180768 136180768 single base substitution T C intron_variant PACA-CA 2 136181047 136181047 single base substitution C G intron_variant PACA-CA 2 136183452 136183452 deletion of <=200bp C - intron_variant PACA-CA 2 136184941 136184941 single base substitution G A intron_variant PACA-CA 2 136185412 136185412 single base substitution C G intron_variant PACA-CA 2 136187301 136187301 single base substitution C T intron_variant PACA-CA 2 136187308 136187308 single base substitution C T intron_variant PACA-CA 2 136187774 136187774 deletion of <=200bp A - intron_variant PACA-CA 2 136188887 136188887 deletion of <=200bp A - intron_variant PACA-CA 2 136190264 136190264 single base substitution C T intron_variant PACA-CA 2 136198854 136198854 deletion of <=200bp T - intron_variant PACA-CA 2 136202850 136202850 single base substitution C T intron_variant PACA-CA 2 136207730 136207730 single base substitution A G intron_variant PACA-CA 2 136209329 136209329 single base substitution T C intron_variant PACA-CA 2 136210454 136210454 single base substitution C T intron_variant PACA-CA 2 136211021 136211021 single base substitution C T intron_variant PACA-CA 2 136213835 136213835 single base substitution G A intron_variant PACA-CA 2 136215000 136215000 single base substitution G A intron_variant PACA-CA 2 136218351 136218351 single base substitution T A intron_variant PACA-CA 2 136219289 136219289 single base substitution C T intron_variant PACA-CA 2 136220448 136220448 single base substitution C T intron_variant PACA-CA 2 136220892 136220892 single base substitution A T intron_variant PACA-CA 2 136222848 136222848 single base substitution C G intron_variant PACA-CA 2 136224020 136224020 single base substitution A G intron_variant PACA-CA 2 136224788 136224788 single base substitution T C intron_variant PACA-CA 2 136226838 136226838 single base substitution C T intron_variant PACA-CA 2 136229514 136229514 single base substitution C T intron_variant PACA-CA 2 136230141 136230141 single base substitution C G intron_variant PACA-CA 2 136233132 136233132 single base substitution C G intron_variant PACA-CA 2 136234929 136234929 single base substitution C A intron_variant PACA-CA 2 136240916 136240916 single base substitution G T intron_variant PACA-CA 2 136243623 136243623 single base substitution G T intron_variant PACA-CA 2 136247614 136247614 insertion of <=200bp - A intron_variant PACA-CA 2 136252773 136252773 single base substitution A G intron_variant PACA-CA 2 136254424 136254424 single base substitution C A intron_variant PACA-CA 2 136255275 136255275 single base substitution T C intron_variant PACA-CA 2 136255490 136255490 single base substitution G A intron_variant PACA-CA 2 136260092 136260092 single base substitution C T intron_variant PACA-CA 2 136269332 136269332 single base substitution A T intron_variant PACA-CA 2 136269766 136269766 single base substitution C T intron_variant PACA-CA 2 136272954 136272954 single base substitution G A intron_variant PACA-CA 2 136274509 136274509 single base substitution G A intron_variant PACA-CA 2 136274689 136274689 single base substitution C A intron_variant PACA-CA 2 136280136 136280136 single base substitution G A intron_variant PACA-CA 2 136280266 136280266 single base substitution G C intron_variant PACA-CA 2 136285726 136285726 single base substitution G T intron_variant PACA-CA 2 136286992 136286992 single base substitution C T intron_variant PACA-CA 2 136287222 136287222 single base substitution A T intron_variant PACA-CA 2 136289060 136289060 single base substitution C G upstream_gene_variant PACA-CA 2 136291384 136291384 single base substitution G C upstream_gene_variant PACA-CA 2 136293210 136293210 single base substitution A G upstream_gene_variant PAEN-AU 2 135901725 135901725 single base substitution G T intron_variant PAEN-AU 2 136033987 136033987 single base substitution G C intron_variant PAEN-AU 2 136035502 136035502 single base substitution A C intron_variant PAEN-AU 2 136041115 136041115 single base substitution G A intron_variant PAEN-AU 2 136047068 136047068 single base substitution C A intron_variant PAEN-AU 2 136048245 136048245 single base substitution A C intron_variant PAEN-AU 2 136089654 136089654 single base substitution A C intron_variant PAEN-AU 2 136094846 136094846 single base substitution C T intron_variant PAEN-AU 2 136101590 136101590 single base substitution C A downstream_gene_variant PAEN-AU 2 136101590 136101590 single base substitution C A intron_variant PAEN-AU 2 136119569 136119569 single base substitution C T intron_variant PAEN-AU 2 136141312 136141312 single base substitution T G intron_variant PAEN-AU 2 136141317 136141317 single base substitution G T intron_variant PAEN-AU 2 136142697 136142697 single base substitution A G intron_variant PAEN-AU 2 136142699 136142699 single base substitution C T intron_variant PAEN-AU 2 136251927 136251927 single base substitution T A intron_variant PAEN-AU 2 136272168 136272168 single base substitution G A intron_variant PAEN-IT 2 135898801 135898801 single base substitution T A intron_variant PAEN-IT 2 135992146 135992146 single base substitution T C intron_variant PAEN-IT 2 136048673 136048673 single base substitution C A intron_variant PAEN-IT 2 136091389 136091389 single base substitution A C intron_variant PAEN-IT 2 136110293 136110293 single base substitution C G downstream_gene_variant PAEN-IT 2 136110293 136110293 single base substitution C G intron_variant PAEN-IT 2 136141629 136141629 single base substitution G T intron_variant PAEN-IT 2 136150961 136150961 single base substitution G A intron_variant PAEN-IT 2 136265770 136265770 single base substitution C T intron_variant PBCA-DE 2 135896807 135896807 single base substitution T C intron_variant PBCA-DE 2 135904542 135904543 deletion of <=200bp AC - intron_variant PBCA-DE 2 135910641 135910641 single base substitution G T intron_variant PBCA-DE 2 135929910 135929910 single base substitution C T intron_variant PBCA-DE 2 135940438 135940438 single base substitution A T intron_variant PBCA-DE 2 135942485 135942485 single base substitution T G intron_variant PBCA-DE 2 135946248 135946248 deletion of <=200bp A - intron_variant PBCA-DE 2 135948929 135948929 single base substitution G T intron_variant PBCA-DE 2 135962014 135962014 single base substitution C G intron_variant PBCA-DE 2 135963991 135963991 single base substitution G A intron_variant PBCA-DE 2 135984842 135984842 single base substitution C A intron_variant PBCA-DE 2 135992537 135992537 insertion of <=200bp - A intron_variant PBCA-DE 2 135996057 135996057 single base substitution G A intron_variant PBCA-DE 2 136001192 136001192 insertion of <=200bp - T intron_variant PBCA-DE 2 136001192 136001192 insertion of <=200bp - T upstream_gene_variant PBCA-DE 2 136016162 136016162 single base substitution G A intron_variant PBCA-DE 2 136018369 136018369 single base substitution T C intron_variant PBCA-DE 2 136032871 136032871 insertion of <=200bp - AC intron_variant PBCA-DE 2 136035825 136035825 single base substitution A G intron_variant PBCA-DE 2 136046444 136046444 insertion of <=200bp - GT intron_variant PBCA-DE 2 136046444 136046445 deletion of <=200bp GT - intron_variant PBCA-DE 2 136068625 136068625 single base substitution C G intron_variant PBCA-DE 2 136069783 136069787 deletion of <=200bp ATTTG - intron_variant PBCA-DE 2 136071427 136071427 single base substitution C T intron_variant PBCA-DE 2 136083555 136083555 single base substitution C A intron_variant PBCA-DE 2 136085588 136085588 single base substitution G A intron_variant PBCA-DE 2 136095703 136095706 deletion of <=200bp ATGA - intron_variant PBCA-DE 2 136124431 136124431 deletion of <=200bp A - intron_variant PBCA-DE 2 136149926 136149926 single base substitution G A intron_variant PBCA-DE 2 136150588 136150588 single base substitution A G intron_variant PBCA-DE 2 136152087 136152087 single base substitution T C intron_variant PBCA-DE 2 136156256 136156256 insertion of <=200bp - T intron_variant PBCA-DE 2 136157466 136157466 single base substitution G A intron_variant PBCA-DE 2 136158504 136158504 single base substitution G A intron_variant PBCA-DE 2 136159069 136159069 single base substitution G A intron_variant PBCA-DE 2 136166542 136166542 deletion of <=200bp A - intron_variant PBCA-DE 2 136170932 136170932 single base substitution T C intron_variant PBCA-DE 2 136182516 136182516 single base substitution T A intron_variant PBCA-DE 2 136188386 136188386 single base substitution C T intron_variant PBCA-DE 2 136188686 136188686 single base substitution A T intron_variant PBCA-DE 2 136199215 136199215 single base substitution T C intron_variant PBCA-DE 2 136206619 136206619 single base substitution T G intron_variant PBCA-DE 2 136210153 136210153 insertion of <=200bp - T intron_variant PBCA-DE 2 136226815 136226816 deletion of <=200bp AC - intron_variant PBCA-DE 2 136230522 136230522 single base substitution C G intron_variant PBCA-DE 2 136236054 136236054 single base substitution T C intron_variant PBCA-DE 2 136242563 136242563 single base substitution G A intron_variant PBCA-DE 2 136242755 136242755 single base substitution A T intron_variant PBCA-DE 2 136247556 136247556 single base substitution G A intron_variant PBCA-DE 2 136253246 136253246 single base substitution C T intron_variant PBCA-DE 2 136258224 136258224 single base substitution G T intron_variant PBCA-DE 2 136272629 136272629 single base substitution C T intron_variant PBCA-DE 2 136273679 136273679 insertion of <=200bp - T intron_variant PBCA-DE 2 136275014 136275014 single base substitution G A intron_variant PBCA-DE 2 136277667 136277667 single base substitution G T intron_variant PRAD-CA 2 135897448 135897448 single base substitution C G intron_variant PRAD-CA 2 135924769 135924769 single base substitution T G intron_variant PRAD-CA 2 135925382 135925382 single base substitution T G intron_variant PRAD-CA 2 135991006 135991006 single base substitution C T intron_variant PRAD-CA 2 135991398 135991398 single base substitution A T intron_variant PRAD-CA 2 136004212 136004212 single base substitution G A intron_variant PRAD-CA 2 136008172 136008172 single base substitution C T intron_variant PRAD-CA 2 136016892 136016892 single base substitution G A intron_variant PRAD-CA 2 136035503 136035503 single base substitution C A intron_variant PRAD-CA 2 136057927 136057927 single base substitution C A intron_variant PRAD-CA 2 136074555 136074555 single base substitution T A intron_variant PRAD-CA 2 136120005 136120005 single base substitution G A intron_variant PRAD-CA 2 136136758 136136758 single base substitution A T intron_variant PRAD-CA 2 136152753 136152753 single base substitution G A intron_variant PRAD-CA 2 136161092 136161092 single base substitution C G intron_variant PRAD-CA 2 136161146 136161146 single base substitution T C intron_variant PRAD-CA 2 136188169 136188169 single base substitution T C intron_variant PRAD-CA 2 136198846 136198846 single base substitution G A intron_variant PRAD-CA 2 136214487 136214487 single base substitution C T intron_variant PRAD-CA 2 136215873 136215873 single base substitution C A intron_variant PRAD-CA 2 136246530 136246530 single base substitution A G intron_variant PRAD-CA 2 136251737 136251737 single base substitution G A intron_variant PRAD-CA 2 136252580 136252580 single base substitution A T intron_variant PRAD-CA 2 136252892 136252892 single base substitution T A intron_variant PRAD-CA 2 136271692 136271692 single base substitution G A intron_variant PRAD-CA 2 136274711 136274711 single base substitution T A intron_variant PRAD-CA 2 136288027 136288027 single base substitution G A intron_variant PRAD-UK 2 135892725 135892725 deletion of <=200bp T - downstream_gene_variant PRAD-UK 2 135897228 135897228 single base substitution C T intron_variant PRAD-UK 2 135908338 135908338 single base substitution T C intron_variant PRAD-UK 2 135920767 135920767 single base substitution G A intron_variant PRAD-UK 2 135922829 135922829 single base substitution A G intron_variant PRAD-UK 2 135948880 135948880 single base substitution C T intron_variant PRAD-UK 2 135957211 135957211 single base substitution A G 3_prime_UTR_variant PRAD-UK 2 135957211 135957211 single base substitution A G downstream_gene_variant PRAD-UK 2 135957211 135957211 single base substitution A G intron_variant PRAD-UK 2 135960398 135960398 single base substitution T G exon_variant PRAD-UK 2 135960398 135960398 single base substitution T G splice_region_variant PRAD-UK 2 135995261 135995261 single base substitution A C intron_variant PRAD-UK 2 136003114 136003114 single base substitution C A intron_variant PRAD-UK 2 136006924 136006944 deletion of <=200bp GTCAATGACAGGTTAACTGAA - intron_variant PRAD-UK 2 136023898 136023898 single base substitution C A downstream_gene_variant PRAD-UK 2 136023898 136023898 single base substitution C A intron_variant PRAD-UK 2 136026316 136026316 single base substitution C T downstream_gene_variant PRAD-UK 2 136026316 136026316 single base substitution C T intron_variant PRAD-UK 2 136030616 136030616 single base substitution C T intron_variant PRAD-UK 2 136033543 136033543 single base substitution G A intron_variant PRAD-UK 2 136046537 136046537 deletion of <=200bp T - intron_variant PRAD-UK 2 136055664 136055664 single base substitution G A intron_variant PRAD-UK 2 136067309 136067309 single base substitution A T intron_variant PRAD-UK 2 136076326 136076326 single base substitution T C intron_variant PRAD-UK 2 136087173 136087173 single base substitution T G intron_variant PRAD-UK 2 136089857 136089857 single base substitution C T intron_variant PRAD-UK 2 136096988 136096988 insertion of <=200bp - A intron_variant PRAD-UK 2 136103148 136103148 single base substitution C T exon_variant PRAD-UK 2 136103148 136103148 single base substitution C T missense_variant A217T 649G>A PRAD-UK 2 136123721 136123721 single base substitution C T intron_variant PRAD-UK 2 136126084 136126084 single base substitution T C intron_variant PRAD-UK 2 136129090 136129090 single base substitution C A intron_variant PRAD-UK 2 136129470 136129470 single base substitution G A intron_variant PRAD-UK 2 136137451 136137451 single base substitution T A intron_variant PRAD-UK 2 136140676 136140676 single base substitution G T intron_variant PRAD-UK 2 136146591 136146591 single base substitution T A intron_variant PRAD-UK 2 136162925 136162925 single base substitution A G intron_variant PRAD-UK 2 136167114 136167114 deletion of <=200bp A - intron_variant PRAD-UK 2 136167150 136167150 single base substitution G A intron_variant PRAD-UK 2 136172437 136172437 single base substitution C G intron_variant PRAD-UK 2 136183603 136183603 single base substitution C T intron_variant PRAD-UK 2 136188778 136188778 single base substitution C T intron_variant PRAD-UK 2 136205738 136205738 single base substitution A G intron_variant PRAD-UK 2 136208032 136208032 single base substitution A T intron_variant PRAD-UK 2 136211111 136211111 single base substitution C T intron_variant PRAD-UK 2 136216412 136216412 single base substitution C T intron_variant PRAD-UK 2 136220686 136220686 single base substitution C G intron_variant PRAD-UK 2 136231210 136231210 single base substitution A C intron_variant PRAD-UK 2 136243731 136243734 deletion of <=200bp TCTT - intron_variant PRAD-UK 2 136285943 136285943 single base substitution G A intron_variant PRAD-US 2 135922225 135922225 single base substitution G A intron_variant READ-US 2 135965174 135965174 single base substitution G A 3_prime_UTR_variant READ-US 2 135965174 135965174 single base substitution G A exon_variant READ-US 2 135965174 135965174 single base substitution G A stop_gained R945* 2833C>T READ-US 2 135965174 135965174 single base substitution G A stop_gained R947* 2839C>T READ-US 2 135965174 135965174 single base substitution G A upstream_gene_variant READ-US 2 135988495 135988495 single base substitution G A splice_region_variant READ-US 2 135988495 135988495 single base substitution G A upstream_gene_variant RECA-EU 2 135890550 135890550 single base substitution A T downstream_gene_variant RECA-EU 2 135893407 135893407 single base substitution G A downstream_gene_variant RECA-EU 2 135910507 135910507 single base substitution C T exon_variant RECA-EU 2 135926081 135926081 single base substitution C A intron_variant RECA-EU 2 135936533 135936533 single base substitution G A intron_variant RECA-EU 2 135951300 135951300 single base substitution T C downstream_gene_variant RECA-EU 2 135951300 135951300 single base substitution T C intron_variant RECA-EU 2 135952409 135952409 single base substitution A T downstream_gene_variant RECA-EU 2 135952409 135952409 single base substitution A T intron_variant RECA-EU 2 135956195 135956195 single base substitution C T 3_prime_UTR_variant RECA-EU 2 135956195 135956195 single base substitution C T downstream_gene_variant RECA-EU 2 135956195 135956195 single base substitution C T intron_variant RECA-EU 2 135956243 135956243 single base substitution G A 3_prime_UTR_variant RECA-EU 2 135956243 135956243 single base substitution G A downstream_gene_variant RECA-EU 2 135956243 135956243 single base substitution G A intron_variant RECA-EU 2 135956889 135956889 single base substitution C T 3_prime_UTR_variant RECA-EU 2 135956889 135956889 single base substitution C T downstream_gene_variant RECA-EU 2 135956889 135956889 single base substitution C T intron_variant RECA-EU 2 135971603 135971603 single base substitution C T intron_variant RECA-EU 2 135987857 135987857 single base substitution C T intron_variant RECA-EU 2 135987857 135987857 single base substitution C T upstream_gene_variant RECA-EU 2 135999210 135999210 single base substitution C A intron_variant RECA-EU 2 135999210 135999210 single base substitution C A upstream_gene_variant RECA-EU 2 136004825 136004825 single base substitution G T intron_variant RECA-EU 2 136004928 136004928 single base substitution G A intron_variant RECA-EU 2 136007734 136007734 single base substitution T G intron_variant RECA-EU 2 136011664 136011664 single base substitution A G intron_variant RECA-EU 2 136016151 136016151 single base substitution G A intron_variant RECA-EU 2 136017969 136017969 single base substitution G C intron_variant RECA-EU 2 136024643 136024643 single base substitution A C downstream_gene_variant RECA-EU 2 136024643 136024643 single base substitution A C intron_variant RECA-EU 2 136039980 136039980 single base substitution C A intron_variant RECA-EU 2 136043349 136043349 single base substitution G T intron_variant RECA-EU 2 136055072 136055072 single base substitution A G intron_variant RECA-EU 2 136057866 136057866 single base substitution T C intron_variant RECA-EU 2 136069077 136069077 single base substitution G T intron_variant RECA-EU 2 136078953 136078953 single base substitution T A intron_variant RECA-EU 2 136082958 136082958 single base substitution T C intron_variant RECA-EU 2 136082961 136082961 single base substitution T A intron_variant RECA-EU 2 136088982 136088982 single base substitution C T intron_variant RECA-EU 2 136097653 136097653 single base substitution G A intron_variant RECA-EU 2 136104023 136104023 single base substitution T G intron_variant RECA-EU 2 136107096 136107096 single base substitution C T downstream_gene_variant RECA-EU 2 136107096 136107096 single base substitution C T intron_variant RECA-EU 2 136110911 136110911 single base substitution C G exon_variant RECA-EU 2 136110911 136110911 single base substitution C G intron_variant RECA-EU 2 136123237 136123237 single base substitution G T intron_variant RECA-EU 2 136133484 136133484 single base substitution C A intron_variant RECA-EU 2 136142723 136142723 single base substitution C A intron_variant RECA-EU 2 136148138 136148138 single base substitution T A intron_variant RECA-EU 2 136189689 136189689 single base substitution G A intron_variant RECA-EU 2 136190286 136190286 single base substitution C T intron_variant RECA-EU 2 136193416 136193416 single base substitution T A intron_variant RECA-EU 2 136197619 136197619 single base substitution G T intron_variant RECA-EU 2 136210194 136210194 single base substitution G A intron_variant RECA-EU 2 136221090 136221090 single base substitution C A intron_variant RECA-EU 2 136221091 136221091 single base substitution A T intron_variant RECA-EU 2 136225178 136225178 single base substitution T A intron_variant RECA-EU 2 136240930 136240930 single base substitution C G intron_variant RECA-EU 2 136277346 136277346 single base substitution C T intron_variant RECA-EU 2 136280435 136280435 single base substitution G C intron_variant RECA-EU 2 136286479 136286479 single base substitution T A intron_variant SKCA-BR 2 135892553 135892553 single base substitution A T downstream_gene_variant SKCA-BR 2 135895589 135895590 deletion of <=200bp GT - intron_variant SKCA-BR 2 135895591 135895591 single base substitution T G intron_variant SKCA-BR 2 135895885 135895885 single base substitution T G intron_variant SKCA-BR 2 135898798 135898798 insertion of <=200bp - CTTCT intron_variant SKCA-BR 2 135903509 135903509 single base substitution A T intron_variant SKCA-BR 2 135903769 135903769 single base substitution C T intron_variant SKCA-BR 2 135905185 135905185 single base substitution T C intron_variant SKCA-BR 2 135905548 135905548 single base substitution C T intron_variant SKCA-BR 2 135906061 135906063 deletion of <=200bp CTT - intron_variant SKCA-BR 2 135911465 135911465 single base substitution T G intron_variant SKCA-BR 2 135916384 135916384 single base substitution C T intron_variant SKCA-BR 2 135921147 135921147 single base substitution T A intron_variant SKCA-BR 2 135921710 135921710 single base substitution C T intron_variant SKCA-BR 2 135922044 135922044 single base substitution T G intron_variant SKCA-BR 2 135924113 135924113 single base substitution C T intron_variant SKCA-BR 2 135924700 135924700 single base substitution A T intron_variant SKCA-BR 2 135930004 135930004 insertion of <=200bp - CAA intron_variant SKCA-BR 2 135931753 135931753 single base substitution G A intron_variant SKCA-BR 2 135932509 135932509 single base substitution C T intron_variant SKCA-BR 2 135935288 135935289 deletion of <=200bp AT - intron_variant SKCA-BR 2 135936411 135936411 insertion of <=200bp - TA intron_variant SKCA-BR 2 135948027 135948027 single base substitution G A intron_variant SKCA-BR 2 135951951 135951951 single base substitution A G downstream_gene_variant SKCA-BR 2 135951951 135951951 single base substitution A G intron_variant SKCA-BR 2 135952057 135952057 single base substitution G A downstream_gene_variant SKCA-BR 2 135952057 135952057 single base substitution G A intron_variant SKCA-BR 2 135952408 135952408 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 2 135952408 135952408 insertion of <=200bp - TA intron_variant SKCA-BR 2 135953065 135953065 single base substitution G A downstream_gene_variant SKCA-BR 2 135953065 135953065 single base substitution G A intron_variant SKCA-BR 2 135953232 135953232 single base substitution G C downstream_gene_variant SKCA-BR 2 135953232 135953232 single base substitution G C intron_variant SKCA-BR 2 135954585 135954585 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 135954585 135954585 single base substitution G A downstream_gene_variant SKCA-BR 2 135954585 135954585 single base substitution G A intron_variant SKCA-BR 2 135955061 135955061 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 135955061 135955061 single base substitution G A downstream_gene_variant SKCA-BR 2 135955061 135955061 single base substitution G A intron_variant SKCA-BR 2 135957533 135957533 single base substitution T C 3_prime_UTR_variant SKCA-BR 2 135957533 135957533 single base substitution T C downstream_gene_variant SKCA-BR 2 135957533 135957533 single base substitution T C intron_variant SKCA-BR 2 135958323 135958324 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 2 135958323 135958324 deletion of <=200bp GT - intron_variant SKCA-BR 2 135962326 135962326 insertion of <=200bp - TTA intron_variant SKCA-BR 2 135962780 135962780 single base substitution C T intron_variant SKCA-BR 2 135963812 135963812 insertion of <=200bp - CT intron_variant SKCA-BR 2 135964649 135964649 single base substitution C T intron_variant SKCA-BR 2 135964897 135964897 single base substitution C T intron_variant SKCA-BR 2 135966448 135966448 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 135966448 135966448 single base substitution G A exon_variant SKCA-BR 2 135966448 135966448 single base substitution G A missense_variant P864S 2590C>T SKCA-BR 2 135966448 135966448 single base substitution G A missense_variant P866S 2596C>T SKCA-BR 2 135966448 135966448 single base substitution G A upstream_gene_variant SKCA-BR 2 135967324 135967324 single base substitution G A intron_variant SKCA-BR 2 135967324 135967324 single base substitution G A upstream_gene_variant SKCA-BR 2 135968723 135968723 single base substitution A G intron_variant SKCA-BR 2 135968723 135968723 single base substitution A G upstream_gene_variant SKCA-BR 2 135970245 135970245 single base substitution G A intron_variant SKCA-BR 2 135974609 135974609 single base substitution T A intron_variant SKCA-BR 2 135975757 135975757 single base substitution G A intron_variant SKCA-BR 2 135975960 135975960 single base substitution C T intron_variant SKCA-BR 2 135978424 135978424 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 2 135978424 135978424 insertion of <=200bp - AT intron_variant SKCA-BR 2 135978490 135978490 single base substitution G A downstream_gene_variant SKCA-BR 2 135978490 135978490 single base substitution G A intron_variant SKCA-BR 2 135979209 135979209 single base substitution T G downstream_gene_variant SKCA-BR 2 135979209 135979209 single base substitution T G intron_variant SKCA-BR 2 135988127 135988127 single base substitution T A 3_prime_UTR_variant SKCA-BR 2 135988127 135988127 single base substitution T A exon_variant SKCA-BR 2 135988127 135988127 single base substitution T A missense_variant E637V 1910A>T SKCA-BR 2 135988127 135988127 single base substitution T A upstream_gene_variant SKCA-BR 2 135988312 135988312 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 135988312 135988312 single base substitution C T exon_variant SKCA-BR 2 135988312 135988312 single base substitution C T synonymous_variant T575T 1725G>A SKCA-BR 2 135988312 135988312 single base substitution C T upstream_gene_variant SKCA-BR 2 135990789 135990789 single base substitution G A intron_variant SKCA-BR 2 135990789 135990789 single base substitution G A upstream_gene_variant SKCA-BR 2 135991106 135991106 single base substitution C T intron_variant SKCA-BR 2 135991661 135991661 single base substitution G A intron_variant SKCA-BR 2 135994037 135994037 single base substitution A G intron_variant SKCA-BR 2 135995111 135995111 single base substitution C A intron_variant SKCA-BR 2 135995961 135995961 single base substitution G T intron_variant SKCA-BR 2 135995963 135995963 insertion of <=200bp - CTT intron_variant SKCA-BR 2 135996854 135996854 single base substitution G A intron_variant SKCA-BR 2 135996854 135996854 single base substitution G A upstream_gene_variant SKCA-BR 2 135997402 135997402 single base substitution A T intron_variant SKCA-BR 2 135997402 135997402 single base substitution A T upstream_gene_variant SKCA-BR 2 135999636 135999636 single base substitution C T intron_variant SKCA-BR 2 135999636 135999636 single base substitution C T upstream_gene_variant SKCA-BR 2 136001054 136001054 single base substitution G A intron_variant SKCA-BR 2 136001054 136001054 single base substitution G A upstream_gene_variant SKCA-BR 2 136001459 136001459 single base substitution G A intron_variant SKCA-BR 2 136006247 136006247 single base substitution G A intron_variant SKCA-BR 2 136007162 136007162 single base substitution C T intron_variant SKCA-BR 2 136009183 136009183 single base substitution T A intron_variant SKCA-BR 2 136011005 136011005 single base substitution G A intron_variant SKCA-BR 2 136012098 136012098 single base substitution A C intron_variant SKCA-BR 2 136012183 136012183 single base substitution G A intron_variant SKCA-BR 2 136013240 136013240 single base substitution G A intron_variant SKCA-BR 2 136017092 136017092 single base substitution G A intron_variant SKCA-BR 2 136017637 136017637 single base substitution C T intron_variant SKCA-BR 2 136017854 136017854 single base substitution G A intron_variant SKCA-BR 2 136018098 136018098 single base substitution G A intron_variant SKCA-BR 2 136018115 136018115 single base substitution G A intron_variant SKCA-BR 2 136019475 136019475 single base substitution A C intron_variant SKCA-BR 2 136019729 136019730 deletion of <=200bp CA - intron_variant SKCA-BR 2 136020087 136020087 single base substitution C A intron_variant SKCA-BR 2 136024762 136024762 single base substitution G A downstream_gene_variant SKCA-BR 2 136024762 136024762 single base substitution G A intron_variant SKCA-BR 2 136026993 136026993 single base substitution C T intron_variant SKCA-BR 2 136027317 136027317 single base substitution G A intron_variant SKCA-BR 2 136029171 136029171 single base substitution G A intron_variant SKCA-BR 2 136030224 136030224 single base substitution T C intron_variant SKCA-BR 2 136030678 136030678 single base substitution C A intron_variant SKCA-BR 2 136031504 136031504 single base substitution T A intron_variant SKCA-BR 2 136032764 136032764 single base substitution G A intron_variant SKCA-BR 2 136032850 136032850 single base substitution C T intron_variant SKCA-BR 2 136033804 136033804 insertion of <=200bp - GT intron_variant SKCA-BR 2 136036303 136036303 single base substitution T C intron_variant SKCA-BR 2 136036636 136036636 single base substitution G A intron_variant SKCA-BR 2 136038031 136038031 single base substitution G A intron_variant SKCA-BR 2 136039627 136039627 single base substitution A T intron_variant SKCA-BR 2 136040910 136040910 single base substitution G A intron_variant SKCA-BR 2 136042284 136042284 single base substitution A C intron_variant SKCA-BR 2 136042658 136042658 single base substitution A C intron_variant SKCA-BR 2 136044323 136044323 single base substitution G A intron_variant SKCA-BR 2 136045681 136045684 deletion of <=200bp TATG - intron_variant SKCA-BR 2 136047101 136047101 single base substitution G A intron_variant SKCA-BR 2 136047768 136047768 single base substitution G A intron_variant SKCA-BR 2 136048298 136048298 single base substitution A G intron_variant SKCA-BR 2 136048456 136048456 single base substitution A G intron_variant SKCA-BR 2 136049713 136049713 single base substitution C A intron_variant SKCA-BR 2 136051583 136051583 single base substitution G A intron_variant SKCA-BR 2 136053587 136053587 single base substitution C T intron_variant SKCA-BR 2 136054064 136054064 single base substitution A G intron_variant SKCA-BR 2 136054608 136054608 single base substitution G A intron_variant SKCA-BR 2 136056304 136056304 single base substitution G A intron_variant SKCA-BR 2 136056531 136056531 single base substitution T G intron_variant SKCA-BR 2 136056908 136056908 single base substitution G A intron_variant SKCA-BR 2 136063809 136063809 single base substitution C T intron_variant SKCA-BR 2 136063834 136063834 single base substitution A T intron_variant SKCA-BR 2 136064611 136064611 single base substitution G A intron_variant SKCA-BR 2 136066551 136066551 insertion of <=200bp - AT intron_variant SKCA-BR 2 136068531 136068531 insertion of <=200bp - CA intron_variant SKCA-BR 2 136068810 136068810 single base substitution G A intron_variant SKCA-BR 2 136068850 136068850 single base substitution A G intron_variant SKCA-BR 2 136070766 136070766 single base substitution G A intron_variant SKCA-BR 2 136072745 136072745 single base substitution T C intron_variant SKCA-BR 2 136073633 136073633 single base substitution C T intron_variant SKCA-BR 2 136073839 136073839 single base substitution A T intron_variant SKCA-BR 2 136074555 136074555 single base substitution T A intron_variant SKCA-BR 2 136075779 136075779 insertion of <=200bp - ATT intron_variant SKCA-BR 2 136075935 136075935 single base substitution A T intron_variant SKCA-BR 2 136079040 136079041 deletion of <=200bp TG - intron_variant SKCA-BR 2 136079045 136079045 single base substitution T A intron_variant SKCA-BR 2 136079275 136079275 single base substitution C T intron_variant SKCA-BR 2 136079484 136079484 single base substitution A G intron_variant SKCA-BR 2 136079495 136079495 single base substitution A T intron_variant SKCA-BR 2 136079662 136079662 single base substitution T C intron_variant SKCA-BR 2 136080100 136080100 single base substitution A C intron_variant SKCA-BR 2 136081530 136081530 single base substitution G A intron_variant SKCA-BR 2 136081682 136081682 single base substitution G A intron_variant SKCA-BR 2 136082996 136082996 single base substitution G A intron_variant SKCA-BR 2 136084152 136084152 single base substitution G T intron_variant SKCA-BR 2 136086480 136086480 single base substitution G A intron_variant SKCA-BR 2 136088237 136088237 single base substitution G A intron_variant SKCA-BR 2 136089512 136089512 single base substitution G A intron_variant SKCA-BR 2 136093418 136093418 single base substitution G A intron_variant SKCA-BR 2 136094573 136094573 single base substitution G A intron_variant SKCA-BR 2 136095452 136095452 single base substitution T A intron_variant SKCA-BR 2 136096426 136096426 single base substitution A G intron_variant SKCA-BR 2 136097674 136097674 single base substitution C T intron_variant SKCA-BR 2 136097674 136097675 deletion of <=200bp CT - intron_variant SKCA-BR 2 136098235 136098235 single base substitution G A downstream_gene_variant SKCA-BR 2 136098235 136098235 single base substitution G A intron_variant SKCA-BR 2 136099365 136099365 single base substitution G A downstream_gene_variant SKCA-BR 2 136099365 136099365 single base substitution G A intron_variant SKCA-BR 2 136099668 136099668 single base substitution G A downstream_gene_variant SKCA-BR 2 136099668 136099668 single base substitution G A intron_variant SKCA-BR 2 136099942 136099942 single base substitution G A downstream_gene_variant SKCA-BR 2 136099942 136099942 single base substitution G A intron_variant SKCA-BR 2 136101237 136101237 single base substitution G A downstream_gene_variant SKCA-BR 2 136101237 136101237 single base substitution G A intron_variant SKCA-BR 2 136105946 136105946 single base substitution C T downstream_gene_variant SKCA-BR 2 136105946 136105946 single base substitution C T intron_variant SKCA-BR 2 136112364 136112364 single base substitution G A intron_variant SKCA-BR 2 136112364 136112364 single base substitution G A upstream_gene_variant SKCA-BR 2 136112411 136112411 single base substitution T G intron_variant SKCA-BR 2 136112411 136112411 single base substitution T G upstream_gene_variant SKCA-BR 2 136113629 136113629 single base substitution C A intron_variant SKCA-BR 2 136113629 136113629 single base substitution C A upstream_gene_variant SKCA-BR 2 136114363 136114363 single base substitution G A intron_variant SKCA-BR 2 136114363 136114363 single base substitution G A upstream_gene_variant SKCA-BR 2 136116168 136116168 single base substitution G A intron_variant SKCA-BR 2 136116168 136116168 single base substitution G A upstream_gene_variant SKCA-BR 2 136116737 136116737 single base substitution G A intron_variant SKCA-BR 2 136117148 136117149 deletion of <=200bp GA - intron_variant SKCA-BR 2 136121707 136121707 single base substitution G A intron_variant SKCA-BR 2 136121754 136121754 single base substitution G A intron_variant SKCA-BR 2 136122030 136122030 single base substitution A G intron_variant SKCA-BR 2 136122098 136122098 single base substitution A G intron_variant SKCA-BR 2 136124604 136124604 single base substitution A T intron_variant SKCA-BR 2 136125873 136125873 single base substitution A T intron_variant SKCA-BR 2 136128546 136128546 single base substitution G A intron_variant SKCA-BR 2 136128630 136128630 single base substitution G A intron_variant SKCA-BR 2 136132014 136132014 single base substitution C A intron_variant SKCA-BR 2 136132036 136132036 single base substitution C A intron_variant SKCA-BR 2 136132277 136132277 single base substitution G A intron_variant SKCA-BR 2 136132278 136132278 single base substitution G A intron_variant SKCA-BR 2 136132446 136132446 single base substitution G A intron_variant SKCA-BR 2 136133469 136133469 single base substitution T C intron_variant SKCA-BR 2 136134977 136134977 single base substitution G A intron_variant SKCA-BR 2 136135976 136135976 single base substitution T A intron_variant SKCA-BR 2 136136741 136136741 single base substitution A G intron_variant SKCA-BR 2 136138514 136138514 single base substitution T G intron_variant SKCA-BR 2 136139461 136139461 single base substitution G A intron_variant SKCA-BR 2 136139670 136139670 single base substitution G A intron_variant SKCA-BR 2 136139798 136139798 single base substitution G A intron_variant SKCA-BR 2 136143213 136143213 single base substitution T A intron_variant SKCA-BR 2 136143581 136143581 single base substitution G A intron_variant SKCA-BR 2 136147036 136147036 single base substitution G A intron_variant SKCA-BR 2 136149925 136149926 deletion of <=200bp AG - intron_variant SKCA-BR 2 136152147 136152147 single base substitution G A intron_variant SKCA-BR 2 136153012 136153012 insertion of <=200bp - CT intron_variant SKCA-BR 2 136154258 136154258 single base substitution G A intron_variant SKCA-BR 2 136155002 136155002 single base substitution A G intron_variant SKCA-BR 2 136155824 136155824 single base substitution G C intron_variant SKCA-BR 2 136158968 136158968 single base substitution G A intron_variant SKCA-BR 2 136160120 136160120 single base substitution T G intron_variant SKCA-BR 2 136160207 136160207 single base substitution A G intron_variant SKCA-BR 2 136160792 136160792 single base substitution G A intron_variant SKCA-BR 2 136160902 136160902 single base substitution C A intron_variant SKCA-BR 2 136162101 136162101 single base substitution G A intron_variant SKCA-BR 2 136163914 136163914 single base substitution A G intron_variant SKCA-BR 2 136164095 136164095 single base substitution G A intron_variant SKCA-BR 2 136164125 136164125 single base substitution C T intron_variant SKCA-BR 2 136166294 136166294 single base substitution G A intron_variant SKCA-BR 2 136167276 136167276 single base substitution G A intron_variant SKCA-BR 2 136167368 136167368 single base substitution T A intron_variant SKCA-BR 2 136170286 136170286 insertion of <=200bp - CT intron_variant SKCA-BR 2 136171337 136171337 single base substitution A G intron_variant SKCA-BR 2 136173070 136173070 single base substitution G A intron_variant SKCA-BR 2 136175391 136175391 single base substitution G A intron_variant SKCA-BR 2 136177661 136177661 insertion of <=200bp - TTATA intron_variant SKCA-BR 2 136178588 136178588 single base substitution G A intron_variant SKCA-BR 2 136178656 136178656 single base substitution G C intron_variant SKCA-BR 2 136182959 136182959 single base substitution G A intron_variant SKCA-BR 2 136183708 136183708 single base substitution G A intron_variant SKCA-BR 2 136185723 136185723 single base substitution C T intron_variant SKCA-BR 2 136186815 136186815 single base substitution G A intron_variant SKCA-BR 2 136187653 136187653 single base substitution G A intron_variant SKCA-BR 2 136190444 136190444 single base substitution G A intron_variant SKCA-BR 2 136190866 136190866 single base substitution T G intron_variant SKCA-BR 2 136190963 136190963 single base substitution A C intron_variant SKCA-BR 2 136195950 136195950 single base substitution C T intron_variant SKCA-BR 2 136198589 136198589 single base substitution G A intron_variant SKCA-BR 2 136200084 136200084 single base substitution T A intron_variant SKCA-BR 2 136200925 136200925 single base substitution G A intron_variant SKCA-BR 2 136200926 136200926 single base substitution G A intron_variant SKCA-BR 2 136200928 136200928 single base substitution A G intron_variant SKCA-BR 2 136202158 136202158 single base substitution G A intron_variant SKCA-BR 2 136202172 136202172 single base substitution A T intron_variant SKCA-BR 2 136202177 136202177 single base substitution A T intron_variant SKCA-BR 2 136202417 136202417 single base substitution G A intron_variant SKCA-BR 2 136202990 136202990 single base substitution G A intron_variant SKCA-BR 2 136203986 136203986 single base substitution G A intron_variant SKCA-BR 2 136208122 136208122 single base substitution G A intron_variant SKCA-BR 2 136209543 136209543 single base substitution G A intron_variant SKCA-BR 2 136209577 136209577 single base substitution G A intron_variant SKCA-BR 2 136210709 136210709 single base substitution G A intron_variant SKCA-BR 2 136210781 136210781 single base substitution A G intron_variant SKCA-BR 2 136210890 136210890 single base substitution G A intron_variant SKCA-BR 2 136211358 136211358 single base substitution C T intron_variant SKCA-BR 2 136211730 136211730 single base substitution G A intron_variant SKCA-BR 2 136213160 136213160 single base substitution T C intron_variant SKCA-BR 2 136213897 136213897 single base substitution G A intron_variant SKCA-BR 2 136213898 136213898 single base substitution G A intron_variant SKCA-BR 2 136214451 136214451 single base substitution C T intron_variant SKCA-BR 2 136214481 136214481 single base substitution G A intron_variant SKCA-BR 2 136216251 136216251 single base substitution G A intron_variant SKCA-BR 2 136219617 136219617 single base substitution G A intron_variant SKCA-BR 2 136220844 136220844 single base substitution G A intron_variant SKCA-BR 2 136228674 136228675 deletion of <=200bp CT - intron_variant SKCA-BR 2 136229998 136229998 single base substitution A G intron_variant SKCA-BR 2 136230076 136230076 single base substitution A T intron_variant SKCA-BR 2 136231908 136231908 single base substitution C T intron_variant SKCA-BR 2 136232437 136232437 single base substitution G A intron_variant SKCA-BR 2 136233888 136233888 single base substitution T A intron_variant SKCA-BR 2 136233993 136233993 single base substitution G A intron_variant SKCA-BR 2 136235210 136235210 single base substitution A G intron_variant SKCA-BR 2 136235954 136235954 single base substitution A C intron_variant SKCA-BR 2 136236176 136236176 single base substitution T G intron_variant SKCA-BR 2 136237670 136237671 deletion of <=200bp AT - intron_variant SKCA-BR 2 136242428 136242428 single base substitution A C intron_variant SKCA-BR 2 136242614 136242614 single base substitution G A intron_variant SKCA-BR 2 136243222 136243222 single base substitution T C intron_variant SKCA-BR 2 136244430 136244430 single base substitution G A intron_variant SKCA-BR 2 136245856 136245856 single base substitution G A intron_variant SKCA-BR 2 136246737 136246737 single base substitution G A intron_variant SKCA-BR 2 136246890 136246890 single base substitution A G intron_variant SKCA-BR 2 136251706 136251710 deletion of <=200bp GGGAA - intron_variant SKCA-BR 2 136255656 136255656 single base substitution A C intron_variant SKCA-BR 2 136255659 136255659 single base substitution A T intron_variant SKCA-BR 2 136257497 136257497 single base substitution A T intron_variant SKCA-BR 2 136259824 136259824 single base substitution C T intron_variant SKCA-BR 2 136260330 136260330 single base substitution G A intron_variant SKCA-BR 2 136261816 136261816 single base substitution G A intron_variant SKCA-BR 2 136261897 136261897 single base substitution A C intron_variant SKCA-BR 2 136261897 136261897 single base substitution A C splice_donor_variant SKCA-BR 2 136265485 136265485 single base substitution G A intron_variant SKCA-BR 2 136268126 136268126 single base substitution G A intron_variant SKCA-BR 2 136270741 136270741 single base substitution A C intron_variant SKCA-BR 2 136271427 136271427 single base substitution C T intron_variant SKCA-BR 2 136272186 136272186 single base substitution C T intron_variant SKCA-BR 2 136272519 136272519 single base substitution C T intron_variant SKCA-BR 2 136273105 136273105 single base substitution T C intron_variant SKCA-BR 2 136273785 136273785 single base substitution G A intron_variant SKCA-BR 2 136273867 136273867 single base substitution G A intron_variant SKCA-BR 2 136274070 136274070 single base substitution G A intron_variant SKCA-BR 2 136274933 136274933 single base substitution G A intron_variant SKCA-BR 2 136277983 136277984 deletion of <=200bp CT - intron_variant SKCA-BR 2 136278702 136278702 single base substitution G A intron_variant SKCA-BR 2 136279620 136279620 single base substitution A T intron_variant SKCA-BR 2 136284375 136284375 single base substitution A C intron_variant SKCA-BR 2 136284376 136284376 single base substitution A G intron_variant SKCA-BR 2 136285547 136285547 single base substitution G A intron_variant SKCA-BR 2 136288512 136288512 single base substitution A C intron_variant SKCA-BR 2 136288512 136288512 single base substitution A C upstream_gene_variant SKCA-BR 2 136292951 136292951 single base substitution C T upstream_gene_variant SKCM-US 2 135890479 135890479 single base substitution T A downstream_gene_variant SKCM-US 2 135891593 135891593 single base substitution C T downstream_gene_variant SKCM-US 2 135911265 135911265 single base substitution C T intron_variant SKCM-US 2 135911399 135911399 single base substitution G C intron_variant SKCM-US 2 135920326 135920326 single base substitution G A intron_variant SKCM-US 2 135920396 135920396 single base substitution C T intron_variant SKCM-US 2 135926253 135926253 single base substitution C T intron_variant SKCM-US 2 135960445 135960445 single base substitution G A 3_prime_UTR_variant SKCM-US 2 135960445 135960445 single base substitution G A exon_variant SKCM-US 2 135960445 135960445 single base substitution G A missense_variant S1031F 3092C>T SKCM-US 2 135960445 135960445 single base substitution G A missense_variant S1033F 3098C>T SKCM-US 2 135960482 135960482 single base substitution G A 3_prime_UTR_variant SKCM-US 2 135960482 135960482 single base substitution G A exon_variant SKCM-US 2 135960482 135960482 single base substitution G A missense_variant H1019Y 3055C>T SKCM-US 2 135960482 135960482 single base substitution G A missense_variant H1021Y 3061C>T SKCM-US 2 135966509 135966509 single base substitution G A 3_prime_UTR_variant SKCM-US 2 135966509 135966509 single base substitution G A exon_variant SKCM-US 2 135966509 135966509 single base substitution G A synonymous_variant D843D 2529C>T SKCM-US 2 135966509 135966509 single base substitution G A synonymous_variant D845D 2535C>T SKCM-US 2 135966509 135966509 single base substitution G A upstream_gene_variant SKCM-US 2 135982014 135982014 single base substitution C T 3_prime_UTR_variant SKCM-US 2 135982014 135982014 single base substitution C T downstream_gene_variant SKCM-US 2 135982014 135982014 single base substitution C T exon_variant SKCM-US 2 135982014 135982014 single base substitution C T synonymous_variant R742R 2226G>A SKCM-US 2 135982014 135982014 single base substitution C T synonymous_variant R744R 2232G>A SKCM-US 2 135988271 135988271 single base substitution G A 3_prime_UTR_variant SKCM-US 2 135988271 135988271 single base substitution G A exon_variant SKCM-US 2 135988271 135988271 single base substitution G A missense_variant P589L 1766C>T SKCM-US 2 135988271 135988271 single base substitution G A upstream_gene_variant SKCM-US 2 135988399 135988399 single base substitution C T 3_prime_UTR_variant SKCM-US 2 135988399 135988399 single base substitution C T exon_variant SKCM-US 2 135988399 135988399 single base substitution C T synonymous_variant R546R 1638G>A SKCM-US 2 135988399 135988399 single base substitution C T upstream_gene_variant SKCM-US 2 135988470 135988470 single base substitution G A 3_prime_UTR_variant SKCM-US 2 135988470 135988470 single base substitution G A exon_variant SKCM-US 2 135988470 135988470 single base substitution G A stop_gained R523* 1567C>T SKCM-US 2 135988470 135988470 single base substitution G A upstream_gene_variant SKCM-US 2 136023176 136023176 single base substitution G A 3_prime_UTR_variant SKCM-US 2 136023176 136023176 single base substitution G A downstream_gene_variant SKCM-US 2 136023176 136023176 single base substitution G A synonymous_variant F489F 1467C>T SKCM-US 2 136026661 136026661 single base substitution C T 3_prime_UTR_variant SKCM-US 2 136026661 136026661 single base substitution C T exon_variant SKCM-US 2 136026661 136026661 single base substitution C T stop_gained W419* 1257G>A SKCM-US 2 136033229 136033229 single base substitution T G exon_variant SKCM-US 2 136033229 136033229 single base substitution T G missense_variant T355P 1063A>C SKCM-US 2 136111119 136111119 single base substitution G A exon_variant SKCM-US 2 136111119 136111119 single base substitution G A missense_variant P87L 260C>T STAD-US 2 135926202 135926202 single base substitution C A intron_variant STAD-US 2 135965210 135965210 single base substitution A G 3_prime_UTR_variant STAD-US 2 135965210 135965210 single base substitution A G exon_variant STAD-US 2 135965210 135965210 single base substitution A G missense_variant F933L 2797T>C STAD-US 2 135965210 135965210 single base substitution A G missense_variant F935L 2803T>C STAD-US 2 135965210 135965210 single base substitution A G upstream_gene_variant STAD-US 2 135988401 135988401 single base substitution G A 3_prime_UTR_variant STAD-US 2 135988401 135988401 single base substitution G A exon_variant STAD-US 2 135988401 135988401 single base substitution G A missense_variant R546W 1636C>T STAD-US 2 135988401 135988401 single base substitution G A upstream_gene_variant STAD-US 2 135988450 135988450 single base substitution T C 3_prime_UTR_variant STAD-US 2 135988450 135988450 single base substitution T C exon_variant STAD-US 2 135988450 135988450 single base substitution T C synonymous_variant Q529Q 1587A>G STAD-US 2 135988450 135988450 single base substitution T C upstream_gene_variant STAD-US 2 136023244 136023244 single base substitution C G 3_prime_UTR_variant STAD-US 2 136023244 136023244 single base substitution C G downstream_gene_variant STAD-US 2 136023244 136023244 single base substitution C G missense_variant G467R 1399G>C STAD-US 2 136029371 136029371 single base substitution G A exon_variant STAD-US 2 136029371 136029371 single base substitution G A synonymous_variant R391R 1173C>T STAD-US 2 136033260 136033260 deletion of <=200bp A - exon_variant STAD-US 2 136033260 136033260 deletion of <=200bp A - frameshift_variant F344 STAD-US 2 136107605 136107605 single base substitution G A downstream_gene_variant STAD-US 2 136107605 136107605 single base substitution G A exon_variant STAD-US 2 136107605 136107605 single base substitution G A synonymous_variant A180A 540C>T STAD-US 2 136261984 136261984 single base substitution G A exon_variant STAD-US 2 136261984 136261984 single base substitution G A intron_variant STAD-US 2 136261984 136261984 single base substitution G A synonymous_variant L26L 76C>T THCA-SA 2 135893425 135893425 single base substitution C G downstream_gene_variant THCA-SA 2 135908007 135908007 single base substitution G A intron_variant THCA-SA 2 135988224 135988224 single base substitution C T 3_prime_UTR_variant THCA-SA 2 135988224 135988224 single base substitution C T exon_variant THCA-SA 2 135988224 135988224 single base substitution C T missense_variant V605M 1813G>A THCA-SA 2 135988224 135988224 single base substitution C T upstream_gene_variant THCA-SA 2 136033211 136033211 single base substitution T G exon_variant THCA-SA 2 136033211 136033211 single base substitution T G missense_variant N361H 1081A>C THCA-US 2 136026599 136026599 single base substitution A G 3_prime_UTR_variant THCA-US 2 136026599 136026599 single base substitution A G downstream_gene_variant THCA-US 2 136026599 136026599 single base substitution A G missense_variant V440A 1319T>C UCEC-US 2 135891570 135891570 single base substitution G A downstream_gene_variant UCEC-US 2 135893133 135893133 single base substitution G T downstream_gene_variant UCEC-US 2 135893155 135893155 single base substitution A G downstream_gene_variant UCEC-US 2 135893168 135893168 single base substitution G A downstream_gene_variant UCEC-US 2 135908029 135908029 single base substitution G A intron_variant UCEC-US 2 135911423 135911423 single base substitution G A intron_variant UCEC-US 2 135920109 135920109 single base substitution G A exon_variant UCEC-US 2 135920113 135920113 single base substitution C T exon_variant UCEC-US 2 135920420 135920423 deletion of <=200bp AAGT - intron_variant UCEC-US 2 135960422 135960423 deletion of <=200bp AG - 3_prime_UTR_variant UCEC-US 2 135960422 135960423 deletion of <=200bp AG - exon_variant UCEC-US 2 135960422 135960423 deletion of <=200bp AG - frameshift_variant LC1038 UCEC-US 2 135960422 135960423 deletion of <=200bp AG - frameshift_variant LC1040 UCEC-US 2 135960485 135960485 single base substitution C A 3_prime_UTR_variant UCEC-US 2 135960485 135960485 single base substitution C A exon_variant UCEC-US 2 135960485 135960485 single base substitution C A missense_variant D1018Y 3052G>T UCEC-US 2 135960485 135960485 single base substitution C A missense_variant D1020Y 3058G>T UCEC-US 2 135965174 135965174 single base substitution G A 3_prime_UTR_variant UCEC-US 2 135965174 135965174 single base substitution G A exon_variant UCEC-US 2 135965174 135965174 single base substitution G A stop_gained R945* 2833C>T UCEC-US 2 135965174 135965174 single base substitution G A stop_gained R947* 2839C>T UCEC-US 2 135965174 135965174 single base substitution G A upstream_gene_variant UCEC-US 2 135965229 135965229 single base substitution C T 3_prime_UTR_variant UCEC-US 2 135965229 135965229 single base substitution C T exon_variant UCEC-US 2 135965229 135965229 single base substitution C T synonymous_variant A926A 2778G>A UCEC-US 2 135965229 135965229 single base substitution C T synonymous_variant A928A 2784G>A UCEC-US 2 135965229 135965229 single base substitution C T upstream_gene_variant UCEC-US 2 135985428 135985428 single base substitution T C 3_prime_UTR_variant UCEC-US 2 135985428 135985428 single base substitution T C exon_variant UCEC-US 2 135985428 135985428 single base substitution T C synonymous_variant T704T 2112A>G UCEC-US 2 135988147 135988147 single base substitution G A 3_prime_UTR_variant UCEC-US 2 135988147 135988147 single base substitution G A exon_variant UCEC-US 2 135988147 135988147 single base substitution G A synonymous_variant C630C 1890C>T UCEC-US 2 135988147 135988147 single base substitution G A upstream_gene_variant UCEC-US 2 135988495 135988495 single base substitution G A splice_region_variant UCEC-US 2 135988495 135988495 single base substitution G A upstream_gene_variant UCEC-US 2 136026677 136026677 single base substitution A C 3_prime_UTR_variant UCEC-US 2 136026677 136026677 single base substitution A C exon_variant UCEC-US 2 136026677 136026677 single base substitution A C missense_variant F414C 1241T>G UCEC-US 2 136029342 136029342 single base substitution C T exon_variant UCEC-US 2 136029342 136029342 single base substitution C T missense_variant G401D 1202G>A UCEC-US 2 136033273 136033273 single base substitution T G exon_variant UCEC-US 2 136033273 136033273 single base substitution T G missense_variant K340T 1019A>C UCEC-US 2 136071088 136071088 single base substitution G A exon_variant UCEC-US 2 136071088 136071088 single base substitution G A missense_variant R313C 937C>T UCEC-US 2 136107639 136107639 single base substitution C T downstream_gene_variant UCEC-US 2 136107639 136107639 single base substitution C T exon_variant UCEC-US 2 136107639 136107639 single base substitution C T missense_variant R169H 506G>A UCEC-US 2 136107737 136107737 single base substitution G A downstream_gene_variant UCEC-US 2 136107737 136107737 single base substitution G A exon_variant UCEC-US 2 136107737 136107737 single base substitution G A synonymous_variant T136T 408C>T UCEC-US 2 136111183 136111183 single base substitution T C exon_variant UCEC-US 2 136111183 136111183 single base substitution T C missense_variant T66A 196A>G UCEC-US 2 136261910 136261910 single base substitution T C exon_variant UCEC-US 2 136261910 136261910 single base substitution T C intron_variant UCEC-US 2 136261910 136261910 single base substitution T C synonymous_variant K50K 150A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-33-4586-01 COSM716769 c.1556A>G p.Q519R Substitution - Missense 2:135230911-135230911 - S02237 COSM3566750 c.1638G>A p.R546R Substitution - coding silent 2:135230829-135230829 - 8069168 COSM4406654 c.2179A>C p.T727P Substitution - Missense 2:135224497-135224497 - TCGA-G3-A3CJ-01 COSM4914741 c.1965A>G p.I655M Substitution - Missense 2:135228005-135228005 - TCGA-AG-A02N-01 COSM5074815 c.2022C>A p.T674T Substitution - coding silent 2:135227948-135227948 - TCGA-AP-A056-01 COSM1006824 c.150A>G p.K50K Substitution - coding silent 2:135504340-135504340 - TCGA-CA-6717-01 COSM1399538 c.1615T>C p.L539L Substitution - coding silent 2:135200356-135200356 - 8062306 COSM3390939 c.1527T>A p.A509A Substitution - coding silent 2:135265546-135265546 - HCC066T COSM5821298 c.6T>A p.P2P Substitution - coding silent 2:135504484-135504484 - SNU-175 COSM3116295 c.643G>A p.D215N Substitution - Missense 2:135345584-135345584 - TCGA-E2-A10C-01 COSM441154 c.3206G>T p.G1069V Substitution - Missense 2:135200376-135200376 - PCSI_0099_Pa_P COSM216510 c.1887C>T p.L629L Substitution - coding silent 2:135230580-135230580 - GC_299T1-GC_299N COSM4772475 c.2219G>A p.R740K Substitution - Missense 2:135224457-135224457 - LUAD-S00484 COSM342984 c.162G>A p.P54P Substitution - coding silent 2:135230700-135230700 - TCGA-EE-A20C-06 COSM3566757 c.1257G>A p.W419* Substitution - Nonsense 2:135269091-135269091 - HCC41T COSM1613408 c.55A>G p.T19A Substitution - Missense 2:135504435-135504435 - M029 COSM1738634 c.1795C>A p.Q599K Substitution - Missense 2:135230672-135230672 - TCGA-D5-6927-01 COSM1399546 c.1524A>C p.E508D Substitution - Missense 2:135265549-135265549 - HCC60 COSM1613404 c.2598T>C p.P866P Substitution - coding silent 2:135208876-135208876 - BZ04 COSM5757869 c.162-6_162-5delTT p.? Unknown 2:135390825-135390826 - STC252 COSM5058081 c.893C>T p.T298I Substitution - Missense 2:135208970-135208970 - YUPTER COSM5394359 c.306C>T p.I102I Substitution - coding silent 2:135353503-135353503 - TCGA-D8-A27G-01 COSM3836883 c.1250G>A p.R417K Substitution - Missense 2:135207582-135207582 - S0059 COSM5883254 c.286G>T p.E96* Substitution - Nonsense 2:135353523-135353523 - TCGA-BR-8485-01 COSM4084998 c.1399G>C p.G467R Substitution - Missense 2:135265674-135265674 - 4132_T COSM3961166 c.771A>G p.L257L Substitution - coding silent 2:135315437-135315437 - ML_29_T_01 COSM5037945 c.1910A>T p.E637V Substitution - Missense 2:135230557-135230557 - CoCM-1 COSM4621100 c.2520C>T p.A840A Substitution - coding silent 2:135208954-135208954 - PCSI_0099_Pa_P COSM216511 c.280C>T p.L94F Substitution - Missense 2:135230582-135230582 - 91890 COSM329648 c.505C>T p.R169C Substitution - Missense 2:135350070-135350070 - TCGA-F5-6814-01 COSM1006806 c.2839C>T p.R947* Substitution - Nonsense 2:135207604-135207604 - TCGA-37-4135-01 COSM716770 c.1820G>T p.S607I Substitution - Missense 2:135230647-135230647 - TCGA-G3-A3CJ-01 COSM4914743 c.360A>G p.I120M Substitution - Missense 2:135228005-135228005 - HN_62897 COSM126525 c.1163C>T p.A388V Substitution - Missense 2:135207669-135207669 - Pat_45_B COSM5860124 c.1010A>G p.D337G Substitution - Missense 2:135275712-135275712 - PT50 COSM5937070 c.994A>C p.K332Q Substitution - Missense 2:135208869-135208869 - TCGA-AG-A002-01 COSM265209 c.2641C>A p.L881I Substitution - Missense 2:135207802-135207802 - 12M COSM5577889 c.486G>A p.L162L Substitution - coding silent 2:135227879-135227879 - TCGA-BT-A2LB-01 COSM3797995 c.3026G>A p.R1009K Substitution - Missense 2:135202947-135202947 - SW48 COSM3116311 c.26delA p.K9fs*10 Deletion - Frameshift 2:135504464-135504464 - TCGA-F5-6814-01 COSM204610 c.1228C>T p.R410* Substitution - Nonsense 2:135207604-135207604 - 0024_CRUK_PC_0024_T1_DNA COSM5422532 c.3141+4A>C p.? Unknown 2:135202828-135202828 - LUAD-S00484 COSM342983 c.1767G>A p.P589P Substitution - coding silent 2:135230700-135230700 - S02234 COSM5676114 c.506G>T p.R169L Substitution - Missense 2:135350069-135350069 - TCGA-D8-A1J8-01 COSM3836878 c.3234G>T p.K1078N Substitution - Missense 2:135200348-135200348 - LC_C34 COSM1186010 c.1178C>T p.A393V Substitution - Missense 2:135271796-135271796 - Pat_45_A COSM5860124 c.1010A>G p.D337G Substitution - Missense 2:135275712-135275712 - Sample_1 COSM5021324 c.648A>G p.K216K Substitution - coding silent 2:135219170-135219170 - 387 COSM4427295 c.1690G>A p.D564N Substitution - Missense 2:135162567-135162567 - BD57T COSM4084993 c.1636C>T p.R546W Substitution - Missense 2:135230831-135230831 - HCC064T COSM5809973 c.1539+4A>C p.? Unknown 2:135265530-135265530 - PCSI_0099_Pa_P_526 COSM216509 c.282C>T p.L94L Substitution - coding silent 2:135230580-135230580 - TP_2020 COSM4772478 c.170T>G p.V57G Substitution - Missense 2:135390812-135390812 - 12M COSM5577887 c.2091G>A p.L697L Substitution - coding silent 2:135227879-135227879 - TCGA-AP-A0LM-01 COSM1006808 c.1173G>A p.A391A Substitution - coding silent 2:135207659-135207659 - CoCM-1 COSM4621102 c.909C>T p.A303A Substitution - coding silent 2:135208954-135208954 - SC_9063 COSM5551376 c.820T>A p.C274S Substitution - Missense 2:135217529-135217529 - PD18771a COSM5780636 c.1190G>C p.R397P Substitution - Missense 2:135207642-135207642 - HCC41 COSM1613408 c.55A>G p.T19A Substitution - Missense 2:135504435-135504435 - RK059_C01 COSM3744024 c.1331A>G p.Y444C Substitution - Missense 2:135269017-135269017 - TCGA-AK-3429-01 COSM475930 c.2349A>G p.S783S Substitution - coding silent 2:135219080-135219080 - T2269 COSM4745378 c.1571C>A p.S524* Substitution - Nonsense 2:135230896-135230896 - KM12 COSM3116247 c.464C>T p.A155V Substitution - Missense 2:135227901-135227901 - SJOS015_D COSM5023640 c.742-6T>G p.? Unknown 2:135217613-135217613 - T3446 COSM4745374 c.980G>A p.R327Q Substitution - Missense 2:135208883-135208883 - TCGA-AP-A0LM-01 COSM1006807 c.2784G>A p.A928A Substitution - coding silent 2:135207659-135207659 - LC_S12 COSM1186011 c.20T>A p.I7K Substitution - Missense 2:135504470-135504470 - TCGA-22-5473-01 COSM715668 c.2814G>T p.L938L Substitution - coding silent 2:135207629-135207629 - LS411 COSM3116211 c.1322G>A p.R441H Substitution - Missense 2:135207510-135207510 - TCGA-GN-A266-06 COSM3566755 c.1467C>T p.F489F Substitution - coding silent 2:135265606-135265606 - TCGA-BR-8360-01 COSM4084993 c.1636C>T p.R546W Substitution - Missense 2:135230831-135230831 - TCGA-37-4135-01 COSM716771 c.215G>T p.S72I Substitution - Missense 2:135230647-135230647 - sysucc-834T COSM1399544 c.488C>T p.A163V Substitution - Missense 2:135227877-135227877 - TCGA-AP-A051-01 COSM1006820 c.937C>T p.R313C Substitution - Missense 2:135313518-135313518 - TCGA-06-0151-01 COSM2149819 c.2789C>A p.S930Y Substitution - Missense 2:135207654-135207654 - PD23563a COSM5774209 c.2044T>A p.S682T Substitution - Missense 2:135227926-135227926 - ESO-1488 COSM1271989 c.719C>T p.S240L Substitution - Missense 2:135315489-135315489 - TCGA-AZ-4315-01 COSM1399542 c.1316T>G p.F439C Substitution - Missense 2:135207516-135207516 - PCSI_0099_Pa_P_526 COSM216511 c.280C>T p.L94F Substitution - Missense 2:135230582-135230582 - TCGA-D1-A16N-01 COSM1006809 c.2344C>A p.R782S Substitution - Missense 2:135219085-135219085 - TCGA-DD-A73E-01 COSM4913040 c.2267G>A p.S756N Substitution - Missense 2:135219162-135219162 - BCM703T COSM4802984 c.759G>A p.M253I Substitution - Missense 2:135315449-135315449 - C086 COSM5542501 c.1755C>T p.D585D Substitution - coding silent 2:135230712-135230712 - HCC60T COSM1613404 c.2598T>C p.P866P Substitution - coding silent 2:135208876-135208876 - TCGA-EI-6917-01 COSM1006815 c.1542C>T p.F514F Substitution - coding silent 2:135230925-135230925 - TCGA-DD-A73E-01 COSM4913042 c.656G>A p.S219N Substitution - Missense 2:135219162-135219162 - TCGA-AP-A056-01 COSM1006819 c.1019A>C p.K340T Substitution - Missense 2:135275703-135275703 - TCGA-EB-A41A-01 COSM3566738 c.3061C>T p.H1021Y Substitution - Missense 2:135202912-135202912 - TCGA-76-4932-01 COSM3406892 c.1533A>G p.R511R Substitution - coding silent 2:135200438-135200438 - 8062307 COSM4388029 c.3070C>T p.P1024S Substitution - Missense 2:135202903-135202903 - Gp5D COSM3116266 c.1748C>T p.S583L Substitution - Missense 2:135230719-135230719 - TCGA-BS-A0UF-01 COSM1006821 c.506G>A p.R169H Substitution - Missense 2:135350069-135350069 - PCSI_0099_Pa_P COSM216512 c.1885C>T p.L629F Substitution - Missense 2:135230582-135230582 - PT36 COSM5915107 c.620C>T p.P207L Substitution - Missense 2:135345607-135345607 - 1517_PT COSM5755814 c.1693A>G p.S565G Substitution - Missense 2:135162564-135162564 - PT51 COSM5938043 c.164C>T p.S55L Substitution - Missense 2:135230698-135230698 - Gp2D COSM3116267 c.143C>T p.S48L Substitution - Missense 2:135230719-135230719 - BD114T COSM5502531 c.143C>A p.A48D Substitution - Missense 2:135504347-135504347 - LOVO COSM3116215 c.1286A>G p.Q429R Substitution - Missense 2:135207546-135207546 - TCGA-Q1-A73O-01 COSM4835582 c.890G>A p.R297K Substitution - Missense 2:135313565-135313565 - EGC15 COSM5058076 c.2892G>A p.V964V Substitution - coding silent 2:135207551-135207551 - TCGA-22-5473-01 COSM715669 c.1203G>T p.L401L Substitution - coding silent 2:135207629-135207629 - PD4006a COSM219323 c.460G>T p.V154F Substitution - Missense 2:135350115-135350115 - CSCC-38-T COSM4526782 c.1419G>A p.R473R Substitution - coding silent 2:135265654-135265654 - CHC314T COSM4950356 c.1423G>C p.G475R Substitution - Missense 2:135202939-135202939 - CHC314T COSM4950354 c.3034G>C p.G1012R Substitution - Missense 2:135202939-135202939 - YUGURT COSM4745372 c.2591G>A p.R864Q Substitution - Missense 2:135208883-135208883 - TCGA-EE-A29N-06 COSM3566741 c.2535C>T p.D845D Substitution - coding silent 2:135208939-135208939 - TCGA-AX-A0J1-01 COSM1590593 c.1714G>A p.A572T Substitution - Missense 2:135162543-135162543 - LUAD-B02216 COSM335596 c.1438G>A p.E480K Substitution - Missense 2:135265635-135265635 - TCGA-CD-A4MG-01 COSM4084996 c.1587A>G p.Q529Q Substitution - coding silent 2:135230880-135230880 - CN-AML-CR-22-Dx COSM5424965 c.2732T>C p.L911P Substitution - Missense 2:135207711-135207711 - PD14459a COSM5773693 c.635G>C p.R212T Substitution - Missense 2:135345592-135345592 - UMC11 COSM3116282 c.1031T>C p.F344S Substitution - Missense 2:135275691-135275691 - CSCC-47-T COSM4562390 c.924G>A p.M308I Substitution - Missense 2:135313531-135313531 - TCGA-D1-A15X-01 COSM1006818 c.1202G>A p.G401D Substitution - Missense 2:135271772-135271772 - QC2-32-T2 COSM5653859 c.16G>A p.E6K Substitution - Missense 2:135230846-135230846 - SC_9056 COSM5552223 c.128A>G p.D43G Substitution - Missense 2:135504362-135504362 - TCGA-CM-6674-01 COSM1399540 c.1587A>G p.S529S Substitution - coding silent 2:135200384-135200384 - YUKAT COSM5394356 c.1349G>A p.R450K Substitution - Missense 2:135207483-135207483 - EOPC-02_tumor COSM3716554 c.2250+7G>A p.? Unknown 2:135224419-135224419 - TCGA-GN-A263-01 COSM3566750 c.1638G>A p.R546R Substitution - coding silent 2:135230829-135230829 - TCGA-B0-5402-01 COSM475929 c.904G>C p.V302L Substitution - Missense 2:135208959-135208959 - ZZUFHECRKL-G047T COSM5433884 c.246C>T p.T82T Substitution - coding silent 2:135230616-135230616 - TCGA-06-0166-01 COSM2150178 c.3119T>C p.L1040P Substitution - Missense 2:135202854-135202854 - PTC-28C COSM5446205 c.293_294insCA p.E99fs*8 Insertion - Frameshift 2:135353515-135353516 - TCGA-K4-A3WV-01 COSM3798000 c.412G>A p.D138N Substitution - Missense 2:135350163-135350163 - 587220 COSM1234799 c.797C>T p.P266L Substitution - Missense 2:135315411-135315411 - S02209 COSM5675265 c.561A>G p.T187T Substitution - coding silent 2:135350014-135350014 - J52_T COSM3961170 c.41A>T p.H14L Substitution - Missense 2:135504449-135504449 - TCGA-G3-A25U-01 COSM4910991 c.1111A>G p.S371G Substitution - Missense 2:135271863-135271863 - AOCS-112-1-2 COSM4136171 c.433G>A p.A145T Substitution - Missense 2:135350142-135350142 - TCGA-AG-A002-01 COSM265208 c.1030C>A p.L344I Substitution - Missense 2:135207802-135207802 - PCSI_0099_Pa_P_526 COSM216512 c.1885C>T p.L629F Substitution - Missense 2:135230582-135230582 - TCGA-GV-A3QK-01 COSM3797998 c.469G>C p.D157H Substitution - Missense 2:135350106-135350106 - PT52 COSM5939053 c.181C>T p.Q61* Substitution - Nonsense 2:135230681-135230681 - TCGA-BR-6566-01 COSM4085000 c.1173C>T p.R391R Substitution - coding silent 2:135271801-135271801 - TCGA-BS-A0UF-01 COSM204610 c.1228C>T p.R410* Substitution - Nonsense 2:135207604-135207604 - TCGA-DI-A0WH-01 COSM1006816 c.1431T>A p.I477I Substitution - coding silent 2:135265642-135265642 - TCGA-AZ-4315-01 COSM1399541 c.2927T>G p.F976C Substitution - Missense 2:135207516-135207516 - EOPC-02_tumor COSM3716556 c.639+7G>A p.? Unknown 2:135224419-135224419 - TCGA-A7-A0D9-01 COSM441156 c.2496-1G>T p.? Unknown 2:135208979-135208979 - 413 COSM4431189 c.710G>C p.R237T Substitution - Missense 2:135315498-135315498 - T263 COSM4745375 c.2556C>G p.G852G Substitution - coding silent 2:135208918-135208918 - TCGA-EE-A29N-06 COSM3566743 c.924C>T p.D308D Substitution - coding silent 2:135208939-135208939 - PT50 COSM5937068 c.2605A>C p.K869Q Substitution - Missense 2:135208869-135208869 - TCGA-A6-6780-01 COSM1399545 c.1597delA p.R533fs*3 Deletion - Frameshift 2:135230870-135230870 - sysucc-1317T COSM4084993 c.1636C>T p.R546W Substitution - Missense 2:135230831-135230831 - TCGA-ER-A198-06 COSM3566749 c.161C>T p.P54L Substitution - Missense 2:135230701-135230701 - TCGA-B5-A11E-01 COSM1006822 c.408C>T p.T136T Substitution - coding silent 2:135350167-135350167 - TCGA-18-3416-01 COSM715670 c.2914G>T p.A972S Substitution - Missense 2:135207529-135207529 - ZZUFHECRKL-G047T COSM5433882 c.1851C>T p.T617T Substitution - coding silent 2:135230616-135230616 - TCGA-D1-A177-01 COSM1006800 c.3120_3121delCT p.C1041fs*13 Deletion - Frameshift 2:135202852-135202853 - TCGA-EB-A41A-01 COSM3566740 c.1450C>T p.H484Y Substitution - Missense 2:135202912-135202912 - TCGA-EE-A182-06 COSM3566737 c.1487C>T p.S496F Substitution - Missense 2:135202875-135202875 - T263 COSM4745377 c.945C>G p.G315G Substitution - coding silent 2:135208918-135208918 - TCGA-BS-A0UF-01 COSM1006806 c.2839C>T p.R947* Substitution - Nonsense 2:135207604-135207604 - TCGA-18-3409-01 COSM716774 c.2532G>A p.M844I Substitution - Missense 2:135208942-135208942 - SC_9063 COSM5551374 c.2431T>A p.C811S Substitution - Missense 2:135217529-135217529 - TCGA-ER-A198-06 COSM3566747 c.1766C>T p.P589L Substitution - Missense 2:135230701-135230701 - SNUH_G45_S1 COSM4001182 c.1802G>A p.R601Q Substitution - Missense 2:135230665-135230665 - HCC60 COSM1613405 c.987T>C p.P329P Substitution - coding silent 2:135208876-135208876 - YUKAT COSM5394354 c.2960G>A p.R987K Substitution - Missense 2:135207483-135207483 - SNUH_G45_S1 COSM4001184 c.197G>A p.R66Q Substitution - Missense 2:135230665-135230665 - TCGA-E2-A10C-01 COSM441155 c.1595G>T p.G532V Substitution - Missense 2:135200376-135200376 - S01023 COSM5666551 c.78G>A p.L26L Substitution - coding silent 2:135504412-135504412 - TCGA-LL-A5YL-01 COSM3836884 c.2658C>T p.V886V Substitution - coding silent 2:135207785-135207785 - H23 COSM1196446 c.1265G>T p.G422V Substitution - Missense 2:135269083-135269083 - TCGA-GN-A263-01 COSM3566752 c.33G>A p.R11R Substitution - coding silent 2:135230829-135230829 - TCGA-76-4932-01 COSM3406890 c.3144A>G p.R1048R Substitution - coding silent 2:135200438-135200438 - CHC314T COSM4950356 c.1423G>C p.G475R Substitution - Missense 2:135202939-135202939 - PCSI_0594_Pa_P_526 COSM5760970 c.3196T>A p.S1066T Substitution - Missense 2:135200386-135200386 - TCGA-D8-A1JK-01 COSM1481953 c.1720G>A p.E574K Substitution - Missense 2:135230747-135230747 - TCGA-D8-A27G-01 COSM3836881 c.2861G>A p.R954K Substitution - Missense 2:135207582-135207582 - 0024_CRUK_PC_0024_T1_DNA COSM5422534 c.1530+4A>C p.? Unknown 2:135202828-135202828 - Gp5D COSM3116267 c.143C>T p.S48L Substitution - Missense 2:135230719-135230719 - PT13 COSM3566735 c.3098C>T p.S1033F Substitution - Missense 2:135202875-135202875 - TCGA-B5-A11E-01 COSM1006811 c.2112A>G p.T704T Substitution - coding silent 2:135227858-135227858 - C086 COSM5542503 c.150C>T p.D50D Substitution - coding silent 2:135230712-135230712 - STC252 COSM5058082 c.1094A>G p.Y365C Substitution - Missense 2:135271880-135271880 - ccRCC-49 COSM1665876 c.1082delA p.N361fs*8 Deletion - Frameshift 2:135275640-135275640 - HCC2 COSM1613407 c.829A>G p.I277V Substitution - Missense 2:135217520-135217520 - LUAD-RT-S01840 COSM384783 c.1573T>G p.F525V Substitution - Missense 2:135230894-135230894 - QC2-32-T2 COSM5653857 c.1621G>A p.E541K Substitution - Missense 2:135230846-135230846 - TCGA-AA-3510-01 COSM1006806 c.2839C>T p.R947* Substitution - Nonsense 2:135207604-135207604 - PCSI_0099_Pa_P_526 COSM216510 c.1887C>T p.L629L Substitution - coding silent 2:135230580-135230580 - TCGA-AP-A052-01 COSM1006804 c.2840G>A p.R947Q Substitution - Missense 2:135207603-135207603 - ESO-0129 COSM1271988 c.1468G>A p.G490R Substitution - Missense 2:135202894-135202894 - TCGA-D1-A16F-01 COSM1006814 c.285C>T p.C95C Substitution - coding silent 2:135230577-135230577 - HCC60T COSM1613405 c.987T>C p.P329P Substitution - coding silent 2:135208876-135208876 - TCGA-B5-A0JY-01 COSM1006817 c.1241T>G p.F414C Substitution - Missense 2:135269107-135269107 - TCGA-18-3419-01 COSM716772 c.2452G>A p.E818K Substitution - Missense 2:135217508-135217508 - TCGA-BJ-A0ZA-01 COSM3372419 c.1319T>C p.V440A Substitution - Missense 2:135269029-135269029 - sysucc-1317T COSM5449500 c.106G>A p.V36I Substitution - Missense 2:135230756-135230756 - 8064637 COSM3390941 c.981G>T p.K327N Substitution - Missense 2:135275741-135275741 - S02237 COSM3566752 c.33G>A p.R11R Substitution - coding silent 2:135230829-135230829 - TCGA-18-3419-01 COSM716773 c.841G>A p.E281K Substitution - Missense 2:135217508-135217508 - GC_299T1-GC_299N COSM4772477 c.608G>A p.R203K Substitution - Missense 2:135224457-135224457 - LOVO COSM3116214 c.2897A>G p.Q966R Substitution - Missense 2:135207546-135207546 - GC_299T1-GC_299N COSM4772478 c.170T>G p.V57G Substitution - Missense 2:135390812-135390812 - KM12 COSM3116246 c.2069C>T p.A690V Substitution - Missense 2:135227901-135227901 - YUGURT COSM4745374 c.980G>A p.R327Q Substitution - Missense 2:135208883-135208883 - TCGA-06-0166-01 COSM2150179 c.1508T>C p.L503P Substitution - Missense 2:135202854-135202854 - 8062307 COSM4388031 c.1459C>T p.P487S Substitution - Missense 2:135202903-135202903 - PT42 COSM5925022 c.202C>T p.Q68* Substitution - Nonsense 2:135353607-135353607 - STC252 COSM5058079 c.2504C>T p.T835I Substitution - Missense 2:135208970-135208970 - 274T COSM1727417 c.1343A>G p.N448S Substitution - Missense 2:135269005-135269005 - HT115 COSM3116201 c.1556G>T p.R519I Substitution - Missense 2:135200415-135200415 - TCGA-CM-4743-01 COSM1399544 c.488C>T p.A163V Substitution - Missense 2:135227877-135227877 - Pat_32_B COSM1234799 c.797C>T p.P266L Substitution - Missense 2:135315411-135315411 - TCGA-D1-A16F-01 COSM1006813 c.1890C>T p.C630C Substitution - coding silent 2:135230577-135230577 - CSCC-27-T COSM4508865 c.789C>T p.T263T Substitution - coding silent 2:135315419-135315419 - TCGA-66-2786-01 COSM715673 c.1692T>A p.D564E Substitution - Missense 2:135162565-135162565 - 102010 COSM96301 c.1566G>C p.V522V Substitution - coding silent 2:135200405-135200405 - TCGA-D8-A1XQ-01 COSM5225442 c.525_527delAGA p.E175delE Deletion - In frame 2:135227838-135227840 - Gp2D COSM4627894 c.2130A>G p.E710E Substitution - coding silent 2:135227840-135227840 - TCGA-D8-A1XQ-01 COSM5225440 c.2130_2132delAGA p.E710delE Deletion - In frame 2:135227838-135227840 - Sample_1 COSM5021322 c.2259A>G p.K753K Substitution - coding silent 2:135219170-135219170 - HCC2 COSM1613406 c.2440A>G p.I814V Substitution - Missense 2:135217520-135217520 - TCGA-06-0151 COSM2149820 c.1178C>A p.S393Y Substitution - Missense 2:135207654-135207654 - TCGA-CM-6674-01 COSM1399539 c.3198A>G p.S1066S Substitution - coding silent 2:135200384-135200384 - LIM2099 COSM1006820 c.937C>T p.R313C Substitution - Missense 2:135313518-135313518 - EGC8 COSM5058084 c.26_27insA p.S10fs*12 Insertion - Frameshift 2:135504463-135504464 - 0004_CRUK_PC_0004_T1_DNA COSM5422489 c.649G>A p.A217T Substitution - Missense 2:135345578-135345578 - TCGA-A7-A0D9-01 COSM441157 c.885-1G>T p.? Unknown 2:135208979-135208979 - TCGA-CJ-5679-01 COSM475932 c.1288C>T p.R430* Substitution - Nonsense 2:135269060-135269060 - Gp2D COSM3116266 c.1748C>T p.S583L Substitution - Missense 2:135230719-135230719 - TCGA-LL-A5YL-01 COSM3836886 c.1047C>T p.V349V Substitution - coding silent 2:135207785-135207785 - BD57T COSM4084995 c.31C>T p.R11W Substitution - Missense 2:135230831-135230831 - LS411 COSM3116210 c.2933G>A p.R978H Substitution - Missense 2:135207510-135207510 - 3N32-VS-3T32 COSM4980773 c.2344C>T p.R782C Substitution - Missense 2:135219085-135219085 - TCGA-AP-A051-01 COSM1590594 c.1718C>T p.A573V Substitution - Missense 2:135162539-135162539 - M029 COSM1738635 c.190C>A p.Q64K Substitution - Missense 2:135230672-135230672 - TCGA-CD-A48C-01 COSM4085004 c.76C>T p.L26L Substitution - coding silent 2:135504414-135504414 - TCGA-CA-6717-01 COSM1399537 c.3226T>C p.L1076L Substitution - coding silent 2:135200356-135200356 - HT115 COSM3116200 c.3167G>T p.R1056I Substitution - Missense 2:135200415-135200415 - PD18771a COSM5780634 c.2801G>C p.R934P Substitution - Missense 2:135207642-135207642 - TCGA-DA-A1I7-06 COSM3566746 c.621G>A p.R207R Substitution - coding silent 2:135224444-135224444 - PT52 COSM5939051 c.1786C>T p.Q596* Substitution - Nonsense 2:135230681-135230681 - EGC15 COSM5058078 c.1281G>A p.V427V Substitution - coding silent 2:135207551-135207551 - CN-AML-CR-22-Dx COSM5424967 c.1121T>C p.L374P Substitution - Missense 2:135207711-135207711 - TCGA-06-0151 COSM2149819 c.2789C>A p.S930Y Substitution - Missense 2:135207654-135207654 - CSCC-16-T COSM4556136 c.67G>C p.D23H Substitution - Missense 2:135504423-135504423 - ZZUFHECRKL-G045T COSM5437815 c.1026A>G p.P342P Substitution - coding silent 2:135207806-135207806 - S01022 COSM5665905 c.1824A>G p.V608V Substitution - coding silent 2:135230643-135230643 - 86793 COSM95570 c.526G>T p.D176Y Substitution - Missense 2:135227839-135227839 - S01022 COSM5665907 c.219A>G p.V73V Substitution - coding silent 2:135230643-135230643 - sysucc-834T COSM1399543 c.2093C>T p.A698V Substitution - Missense 2:135227877-135227877 - TCGA-06-0166 COSM2150179 c.1508T>C p.L503P Substitution - Missense 2:135202854-135202854 - TCGA-B7-5816-01 COSM4084992 c.1192T>C p.F398L Substitution - Missense 2:135207640-135207640 - TCGA-AA-3510-01 COSM204610 c.1228C>T p.R410* Substitution - Nonsense 2:135207604-135207604 - TCGA-B5-A11E-01 COSM1006812 c.507A>G p.T169T Substitution - coding silent 2:135227858-135227858 - RH30SJ_ COSM4303766 c.77C>T p.A26V Substitution - Missense 2:135230785-135230785 - 3N32-VS-3T32 COSM4980775 c.733C>T p.R245C Substitution - Missense 2:135219085-135219085 - TCGA-B7-5816-01 COSM4084990 c.2803T>C p.F935L Substitution - Missense 2:135207640-135207640 - TCGA-D1-A177-01 COSM1006801 c.1509_1510delCT p.C504fs*13 Deletion - Frameshift 2:135202852-135202853 - TCGA-P4-A5E7-01 COSM3990602 c.1922G>A p.C641Y Substitution - Missense 2:135230545-135230545 - J30_T COSM3961168 c.703G>T p.D235Y Substitution - Missense 2:135315505-135315505 - PD4006a COSM219323 c.460G>T p.V154F Substitution - Missense 2:135350115-135350115 - YUPAER COSM5394357 c.578G>T p.G193V Substitution - Missense 2:135349997-135349997 - RMS105_ COSM4986416 c.2986A>G p.T996A Substitution - Missense 2:135207457-135207457 - T3724 COSM4745380 c.11T>C p.V4A Substitution - Missense 2:135504479-135504479 - ESO-0129 COSM1271987 c.3079G>A p.G1027R Substitution - Missense 2:135202894-135202894 - LS411 COSM3116260 c.1812C>T p.L604L Substitution - coding silent 2:135230655-135230655 - LC_C25 COSM1186008 c.2729C>A p.P910Q Substitution - Missense 2:135207714-135207714 - CHC314T COSM4950354 c.3034G>C p.G1012R Substitution - Missense 2:135202939-135202939 - TCGA-BS-A0UV-01 COSM1006823 c.196A>G p.T66A Substitution - Missense 2:135353613-135353613 - sysucc-1317T COSM5449498 c.1711G>A p.V571I Substitution - Missense 2:135230756-135230756 - TARGET-20-PANNJI-09A-04D COSM5487540 c.470C>T p.S157L Substitution - Missense 2:135227895-135227895 - BCM703T COSM4802984 c.759G>A p.M253I Substitution - Missense 2:135315449-135315449 - T1154 COSM1399545 c.1597delA p.R533fs*3 Deletion - Frameshift 2:135230870-135230870 - 587376 COSM1234800 c.605T>G p.I202S Substitution - Missense 2:135345622-135345622 - TCGA-DA-A1I7-06 COSM3566744 c.2232G>A p.R744R Substitution - coding silent 2:135224444-135224444 - TCGA-FW-A3R5-06 COSM3894810 c.260C>T p.P87L Substitution - Missense 2:135353549-135353549 - SNUH_G10_S1 COSM4001185 c.1285G>A p.D429N Substitution - Missense 2:135269063-135269063 - CSCC-7-T COSM4447639 c.849+3G>A p.? Unknown 2:135315356-135315356 - ESCC_BICR_014T COSM5436214 c.941G>A p.G314E Substitution - Missense 2:135208922-135208922 - PCSI_0594_Pa_P_526 COSM5760972 c.1585T>A p.S529T Substitution - Missense 2:135200386-135200386 - RMS105_ COSM4986418 c.1375A>G p.T459A Substitution - Missense 2:135207457-135207457 - TCGA-B0-4833-01 COSM3364287 c.81A>G p.R27R Substitution - coding silent 2:135230781-135230781 - TCGA-18-3409-01 COSM716775 c.921G>A p.M307I Substitution - Missense 2:135208942-135208942 - LC_C27 COSM1186006 c.2967T>A p.N989K Substitution - Missense 2:135207476-135207476 - CSCC-31-T COSM4516950 c.942_943GG>AA p.G315S Substitution - Missense 2:135208920-135208921 - ML_29_T_01 COSM5037947 c.305A>T p.E102V Substitution - Missense 2:135230557-135230557 - TCGA-BR-8360-01 COSM4084995 c.31C>T p.R11W Substitution - Missense 2:135230831-135230831 - TCGA-D8-A1J8-01 COSM3836880 c.1617+6G>T p.? Unknown 2:135200348-135200348 - TCGA-06-0151-01 COSM2149820 c.1178C>A p.S393Y Substitution - Missense 2:135207654-135207654 - RW2982 COSM4649657 c.1326G>C p.L442L Substitution - coding silent 2:135207506-135207506 - JEKO-1 COSM1738750 c.1369G>A p.G457R Substitution - Missense 2:135268979-135268979 - TCGA-EE-A182-06 COSM3566735 c.3098C>T p.S1033F Substitution - Missense 2:135202875-135202875 - TCGA-63-5128-01 COSM716766 c.588A>C p.E196D Substitution - Missense 2:135349987-135349987 - HCC2T COSM1613407 c.829A>G p.I277V Substitution - Missense 2:135217520-135217520 - TCGA-BT-A2LB-01 COSM3797997 c.1415G>A p.R472K Substitution - Missense 2:135202947-135202947 - TCGA-EE-A184-06 COSM3566759 c.1063A>C p.T355P Substitution - Missense 2:135275659-135275659 - MS4 COSM1165418 c.1073T>C p.V358A Substitution - Missense 2:135275649-135275649 - PT51 COSM5938041 c.1769C>T p.S590L Substitution - Missense 2:135230698-135230698 - LC_C25 COSM1186009 c.1118C>A p.P373Q Substitution - Missense 2:135207714-135207714 - CSCC-31-T COSM4516948 c.2553_2554GG>AA p.G852S Substitution - Missense 2:135208920-135208921 - HCC2T COSM1613406 c.2440A>G p.I814V Substitution - Missense 2:135217520-135217520 - ZZUFHECRKL-G045T COSM5437813 c.2637A>G p.P879P Substitution - coding silent 2:135207806-135207806 - HCC2998 COSM3116293 c.682T>G p.F228V Substitution - Missense 2:135315526-135315526 - ESCC_BICR_014T COSM5436212 c.2552G>A p.G851E Substitution - Missense 2:135208922-135208922 - Gp2D COSM4627896 c.525A>G p.E175E Substitution - coding silent 2:135227840-135227840 - Au4 COSM5605500 c.2025C>T p.S675S Substitution - coding silent 2:135227945-135227945 - Au4 COSM5605502 c.420C>T p.S140S Substitution - coding silent 2:135227945-135227945 - TCGA-D8-A1JK-01 COSM1481954 c.115G>A p.E39K Substitution - Missense 2:135230747-135230747 - TCGA-B6-A0I8-01 COSM441159 c.1506T>G p.S502S Substitution - coding silent 2:135265567-135265567 - ESO-175 COSM1271990 c.936T>A p.T312T Substitution - coding silent 2:135313519-135313519 - TCGA-AX-A0J0-01 COSM1006815 c.1542C>T p.F514F Substitution - coding silent 2:135230925-135230925 - sysucc-1317T COSM4084995 c.31C>T p.R11W Substitution - Missense 2:135230831-135230831 - TCGA-AK-3429-01 COSM475931 c.738A>G p.S246S Substitution - coding silent 2:135219080-135219080 - TCGA-EE-A29E-06 COSM3566753 c.1567C>T p.R523* Substitution - Nonsense 2:135230900-135230900 - LC_C27 COSM1186007 c.1356T>A p.N452K Substitution - Missense 2:135207476-135207476 - TCGA-B0-4833-01 COSM3364285 c.1686A>G p.R562R Substitution - coding silent 2:135230781-135230781 - 345973 COSM3726381 c.342G>C p.Q114H Substitution - Missense 2:135353467-135353467 - 8069168 COSM4406656 c.568A>C p.T190P Substitution - Missense 2:135224497-135224497 - T3446 COSM4745372 c.2591G>A p.R864Q Substitution - Missense 2:135208883-135208883 - SJOS015_D COSM5023638 c.2353-6T>G p.? Unknown 2:135217613-135217613 - TCGA-CM-4743-01 COSM1399543 c.2093C>T p.A698V Substitution - Missense 2:135227877-135227877 - PT13 COSM3566737 c.1487C>T p.S496F Substitution - Missense 2:135202875-135202875 - TCGA-AP-A056-01 COSM1006803 c.1447G>T p.D483Y Substitution - Missense 2:135202915-135202915 - SNU-175 COSM3116286 c.919G>T p.V307F Substitution - Missense 2:135313536-135313536 - TCGA-06-0166 COSM2150178 c.3119T>C p.L1040P Substitution - Missense 2:135202854-135202854 - TCGA-A8-A094-01 COSM441158 c.1598G>T p.R533I Substitution - Missense 2:135230869-135230869 - TCGA-P4-A5E7-01 COSM3990604 c.317G>A p.C106Y Substitution - Missense 2:135230545-135230545 - TCGA-CG-4305-01 COSM4085002 c.540C>T p.A180A Substitution - coding silent 2:135350035-135350035 - TCGA-A2-A0CX-01 COSM441160 c.635G>A p.R212K Substitution - Missense 2:135345592-135345592 - TCGA-B0-5402-01 COSM475928 c.2515G>C p.V839L Substitution - Missense 2:135208959-135208959 - TCGA-AP-A056-01 COSM1006802 c.3058G>T p.D1020Y Substitution - Missense 2:135202915-135202915 - TARGET-20-PANNJI-09A-04D COSM5487538 c.2075C>T p.S692L Substitution - Missense 2:135227895-135227895 - TCGA-18-3416-01 COSM715671 c.1303G>T p.A435S Substitution - Missense 2:135207529-135207529 - LS411 COSM3116261 c.207C>T p.L69L Substitution - coding silent 2:135230655-135230655 - TCGA-AZ-4315-01 COSM1399548 c.678-1G>A p.? Unknown 2:135315531-135315531 - PD23563a COSM5774211 c.439T>A p.S147T Substitution - Missense 2:135227926-135227926 - PCSI_0099_Pa_P COSM216509 c.282C>T p.L94L Substitution - coding silent 2:135230580-135230580 - RW2982 COSM4649655 c.2937G>C p.L979L Substitution - coding silent 2:135207506-135207506 - RH30SJ_ COSM4303764 c.1682C>T p.A561V Substitution - Missense 2:135230785-135230785 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.658406;Hs.658407;Hs.658408;Hs.658409;Hs.658410;Hs.658411;Hs.658412;Hs.658415;Hs.658416;Hs.658418;Hs.658419;Hs.658420;Hs.658421;Hs.658422 2q21.3 153430

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.S502S c.1506T>G 2 136023137 BRCA AG - Frameshift p.C1041Hfs*13 c.3120_3121delCT 2 135960422 UCEC A G Missense p.F344S c.1031T>C 2 136033261 CM A G Missense p.F935L c.2803T>C 2 135965210 STAD A G Missense p.L1040P c.3119T>C 2 135960424 GBM A G Missense p.V440A c.1319T>C 2 136026599 THCA A T IntronicSNV . c.162-44174T>A 2 136192564 CLL A T Synonymous p.T312T c.936T>A 2 136071089 ESCA C A IntronicSNV . c.161+53937G>T 2 136207962 CLL C A Missense p.A48S c.142G>T 2 136261918 LUAD C A Missense p.A972S c.2914G>T 2 135965099 LUSC C A Missense p.R533I c.1598G>T 2 135988439 BRCA C A Missense p.S607I c.1820G>T 2 135988217 LUSC C A Nonsense p.E196* c.586G>T 2 136107559 HNSC C A SpliceAcceptorSNV . c.1955-1G>T 2 135985586 ALL C A SpliceAcceptorSNV . c.2496-1G>T 2 135966549 BRCA C A Synonymous p.L938L c.2814G>T 2 135965199 LUSC C G IntronicSNV . c.2606+495G>C 2 135965943 CLL C G Missense p.E623Q c.1867G>C 2 135988170 HNSC C G Missense p.E78Q c.232G>C 2 136111147 HNSC C G Missense p.E959Q c.2875G>C 2 135965138 LUAD C G Missense p.G624R c.1870G>C 2 135988167 LUAD C G Missense p.R523P c.1568G>C 2 135988469 LUAD C G Missense p.V839L c.2515G>C 2 135966529 RCCC C T Missense p.A325T c.973G>A 2 136033319 LUAD C T Missense p.D905N c.2713G>A 2 135965300 CM C T Missense p.E197K c.589G>A 2 136107556 LUAD C T Missense p.E574K c.1720G>A 2 135988317 BRCA C T Missense p.E818K c.2452G>A 2 135975078 LUSC C T Missense p.G1027R c.3079G>A 2 135960464 ESCA C T Missense p.R1009K c.3026G>A 2 135960517 BLCA C T Missense p.R212K c.635G>A 2 136103162 BRCA C T Nonsense p.W419* c.1257G>A 2 136026661 CM C T Nonsense p.W792* c.2375G>A 2 135975155 CM C T Synonymous p.A928A c.2784G>A 2 135965229 HNSC C T Synonymous p.K1078K c.3234G>A 2 135957918 CM C T Synonymous p.R546R c.1638G>A 2 135988399 CM C T Synonymous p.R744R c.2232G>A 2 135982014 CM C T Synonymous p.T575T c.1725G>A 2 135988312 CM C T Synonymous p.V1059V c.3177G>A 2 135957975 MM G A Missense p.A925V c.2774C>T 2 135965239 HNSC G A Missense p.L629F c.1885C>T 2 135988152 PAAD G A Missense p.L815F c.2443C>T 2 135975087 CM G A Missense p.P589L c.1766C>T 2 135988271 CM G A Missense p.S1033F c.3098C>T 2 135960445 CM G A Missense p.S240L c.719C>T 2 136073059 ESCA G A Synonymous p.A180A c.540C>T 2 136107605 STAD G A Synonymous p.C630C c.1890C>T 2 135988147 UCEC G A Synonymous p.D845D c.2535C>T 2 135966509 CM G A Synonymous p.F489F c.1467C>T 2 136023176 CM G A Synonymous p.L629L c.1887C>T 2 135988150 PAAD G C Missense p.R364G c.1090C>G 2 136029454 CM G T IntronicSNV . c.161+52074C>A 2 136209825 CLL G T Missense p.S930Y c.2789C>A 2 135965224 GBM T C IntronicSNV . c.1-6479A>G 2 136268538 CM T C Missense p.Q519R c.1556A>G 2 135988481 LUSC T C Synonymous p.R1048R c.3144A>G 2 135958008 GBM T C Synonymous p.R562R c.1686A>G 2 135988351 RCCC T G Missense p.E196D c.588A>C 2 136107557 LUSC T G Missense p.T355P c.1063A>C 2 136033229 CM