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 217124172 217124172 + Missense_Mutation SNP C C T TCGA-OR-A5KX-01A-11D-A29I-10 TCGA-OR-A5KX-10A-01D-A29L-10 g.chr2:217124172C>T c.1096G>A c.(1096-1098)Ggc>Agc p.G366S ACC 2 217124357 217124357 + Missense_Mutation SNP C C T TCGA-OR-A5JD-01A-11D-A29I-10 TCGA-OR-A5JD-10B-01D-A29L-10 g.chr2:217124357C>T c.911G>A c.(910-912)cGg>cAg p.R304Q BLCA 2 217124125 217124125 + Silent SNP G G T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 g.chr2:217124125G>T c.1143C>A c.(1141-1143)atC>atA p.I381I BLCA 2 217124196 217124196 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 g.chr2:217124196C>T c.1072G>A c.(1072-1074)Gag>Aag p.E358K BLCA 2 217124269 217124269 + Missense_Mutation SNP G G T TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr2:217124269G>T c.999C>A c.(997-999)aaC>aaA p.N333K BLCA 2 217142472 217142472 + Missense_Mutation SNP G G A TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr2:217142472G>A c.788C>T c.(787-789)tCg>tTg p.S263L CESC 2 217142480 217142480 + Silent SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 g.chr2:217142480G>A c.780C>T c.(778-780)ttC>ttT p.F260F CESC 2 217234646 217234646 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chr2:217234646G>A c.338C>T c.(337-339)tCt>tTt p.S113F COAD 2 217124129 217124129 + Missense_Mutation SNP G G T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr2:217124129G>T c.1139C>A c.(1138-1140)aCc>aAc p.T380N COAD 2 217142408 217142408 + Silent SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr2:217142408G>A c.852C>T c.(850-852)gaC>gaT p.D284D COAD 2 217142429 217142429 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:217142429G>A c.831C>T c.(829-831)taC>taT p.Y277Y COAD 2 217142456 217142456 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:217142456G>A c.804C>T c.(802-804)cgC>cgT p.R268R COAD 2 217142554 217142554 + Missense_Mutation SNP C C T TCGA-A6-6137-01A-11D-1771-10 TCGA-A6-6137-10A-01D-1806-10 g.chr2:217142554C>T c.706G>A c.(706-708)Gtt>Att p.V236I COAD 2 217148425 217148425 + Missense_Mutation SNP C C A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:217148425C>A c.544G>T c.(544-546)Gat>Tat p.D182Y COAD 2 217148452 217148452 + Splice_Site SNP C C A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr2:217148452C>A c.517G>T c.(517-519)Ggg>Tgg p.G173W COAD 2 217234494 217234494 + Missense_Mutation SNP G G A TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr2:217234494G>A c.490C>T c.(490-492)Cgc>Tgc p.R164C COAD 2 217234620 217234620 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:217234620G>A c.364C>T c.(364-366)Cca>Tca p.P122S COAD 2 217234891 217234891 + Missense_Mutation SNP C C T TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr2:217234891C>T c.93G>A c.(91-93)atG>atA p.M31I COADREAD 2 217124129 217124129 + Missense_Mutation SNP G G T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr2:217124129G>T c.1139C>A c.(1138-1140)aCc>aAc p.T380N COADREAD 2 217142408 217142408 + Silent SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr2:217142408G>A c.852C>T c.(850-852)gaC>gaT p.D284D COADREAD 2 217142429 217142429 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:217142429G>A c.831C>T c.(829-831)taC>taT p.Y277Y COADREAD 2 217142456 217142456 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:217142456G>A c.804C>T c.(802-804)cgC>cgT p.R268R COADREAD 2 217142554 217142554 + Missense_Mutation SNP C C T TCGA-A6-6137-01A-11D-1771-10 TCGA-A6-6137-10A-01D-1806-10 g.chr2:217142554C>T c.706G>A c.(706-708)Gtt>Att p.V236I COADREAD 2 217148425 217148425 + Missense_Mutation SNP C C A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:217148425C>A c.544G>T c.(544-546)Gat>Tat p.D182Y COADREAD 2 217148452 217148452 + Splice_Site SNP C C A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr2:217148452C>A c.517G>T c.(517-519)Ggg>Tgg p.G173W COADREAD 2 217234494 217234494 + Missense_Mutation SNP G G A TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr2:217234494G>A c.490C>T c.(490-492)Cgc>Tgc p.R164C COADREAD 2 217234552 217234552 + Silent SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr2:217234552G>A c.432C>T c.(430-432)acC>acT p.T144T COADREAD 2 217234552 217234552 + Silent SNP G G A TCGA-AG-A036-01A-12W-A096-10 TCGA-AG-A036-11A-11W-A096-10 g.chr2:217234552G>A c.432C>T c.(430-432)acC>acT p.T144T COADREAD 2 217234620 217234620 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:217234620G>A c.364C>T c.(364-366)Cca>Tca p.P122S COADREAD 2 217234891 217234891 + Missense_Mutation SNP C C T TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr2:217234891C>T c.93G>A c.(91-93)atG>atA p.M31I ESCA 2 217124265 217124265 + Silent SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 g.chr2:217124265G>T c.1003C>A c.(1003-1005)Cgg>Agg p.R335R ESCA 2 217142513 217142513 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr2:217142513G>A c.747C>T c.(745-747)atC>atT p.I249I ESCA 2 217148414 217148414 + Silent SNP G G C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 g.chr2:217148414G>C c.555C>G c.(553-555)gtC>gtG p.V185V ESCA 2 217234657 217234657 + Frame_Shift_Del DEL G G - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 g.chr2:217234657delG c.327delC c.(325-327)cccfs p.P109fs ESCA 2 217234779 217234779 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr2:217234779delG c.205delC c.(205-207)cagfs p.Q69fs ESCA 2 217234789 217234789 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 g.chr2:217234789G>A c.195C>T c.(193-195)caC>caT p.H65H ESCA 2 217234868 217234868 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 g.chr2:217234868T>G c.116A>C c.(115-117)aAg>aCg p.K39T GBM 2 217234856 217234856 + Missense_Mutation SNP C C T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 g.chr2:217234856C>T c.128G>A c.(127-129)cGc>cAc p.R43H GBM 2 217234886 217234886 + Missense_Mutation SNP C C T TCGA-06-0173-01A-01D-1491-08 TCGA-06-0173-10B-01D-1491-08 g.chr2:217234886C>T c.98G>A c.(97-99)cGc>cAc p.R33H GBMLGG 2 217124103 217124103 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:217124103T>C c.1165A>G c.(1165-1167)Aga>Gga p.R389G GBMLGG 2 217142452 217142452 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:217142452C>A c.808G>T c.(808-810)Gac>Tac p.D270Y GBMLGG 2 217234779 217234779 + Frame_Shift_Del DEL G G - TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 g.chr2:217234779delG c.205delC c.(205-207)cagfs p.Q69fs GBMLGG 2 217234856 217234856 + Missense_Mutation SNP C C T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 g.chr2:217234856C>T c.128G>A c.(127-129)cGc>cAc p.R43H GBMLGG 2 217234886 217234886 + Missense_Mutation SNP C C T TCGA-06-0173-01A-01D-1491-08 TCGA-06-0173-10B-01D-1491-08 g.chr2:217234886C>T c.98G>A c.(97-99)cGc>cAc p.R33H HNSC 2 217124226 217124226 + Nonsense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chr2:217124226C>A c.1042G>T c.(1042-1044)Gaa>Taa p.E348* HNSC 2 217124235 217124235 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 g.chr2:217124235G>A c.1033C>T c.(1033-1035)Ccc>Tcc p.P345S HNSC 2 217124378 217124378 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr2:217124378G>A c.890C>T c.(889-891)tCg>tTg p.S297L HNSC 2 217142549 217142549 + Missense_Mutation SNP C C A TCGA-C9-A47Z-01A-11D-A24D-08 TCGA-C9-A47Z-10A-01D-A24F-08 g.chr2:217142549C>A c.711G>T c.(709-711)caG>caT p.Q237H HNSC 2 217148387 217148387 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr2:217148387G>C c.582C>G c.(580-582)atC>atG p.I194M HNSC 2 217148396 217148396 + Silent SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr2:217148396A>G c.573T>C c.(571-573)ccT>ccC p.P191P HNSC 2 217234886 217234886 + Missense_Mutation SNP C C T TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 g.chr2:217234886C>T c.98G>A c.(97-99)cGc>cAc p.R33H KIPAN 2 217124358 217124358 + Missense_Mutation SNP G G A TCGA-UZ-A9PJ-01A-11D-A382-10 TCGA-UZ-A9PJ-10A-01D-A385-10 g.chr2:217124358G>A c.910C>T c.(910-912)Cgg>Tgg p.R304W KIRP 2 217124358 217124358 + Missense_Mutation SNP G G A TCGA-UZ-A9PJ-01A-11D-A382-10 TCGA-UZ-A9PJ-10A-01D-A385-10 g.chr2:217124358G>A c.910C>T c.(910-912)Cgg>Tgg p.R304W LGG 2 217124103 217124103 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:217124103T>C c.1165A>G c.(1165-1167)Aga>Gga p.R389G LGG 2 217142452 217142452 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:217142452C>A c.808G>T c.(808-810)Gac>Tac p.D270Y LGG 2 217234779 217234779 + Frame_Shift_Del DEL G G - TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 g.chr2:217234779delG c.205delC c.(205-207)cagfs p.Q69fs LIHC 2 217124066 217124066 + Missense_Mutation SNP C C A TCGA-CC-A7IE-01A-21D-A382-10 TCGA-CC-A7IE-10A-01D-A385-10 g.chr2:217124066C>A c.1202G>T c.(1201-1203)cGa>cTa p.R401L LIHC 2 217124185 217124186 + Frame_Shift_Ins INS - - G TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr2:217124185_217124186insG c.1082_1083insC c.(1081-1083)cctfs p.P361fs LIHC 2 217124210 217124210 + Missense_Mutation SNP C C T TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr2:217124210C>T c.1058G>A c.(1057-1059)gGc>gAc p.G353D LIHC 2 217124227 217124227 + Silent SNP C C T TCGA-DD-A73C-01A-12D-A33K-10 TCGA-DD-A73C-10A-01D-A33K-10 g.chr2:217124227C>T c.1041G>A c.(1039-1041)tcG>tcA p.S347S LIHC 2 217124264 217124264 + Missense_Mutation SNP C C A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr2:217124264C>A c.1004G>T c.(1003-1005)cGg>cTg p.R335L LUAD 2 217124066 217124066 + Missense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chr2:217124066C>T c.1202G>A c.(1201-1203)cGa>cAa p.R401Q LUAD 2 217124067 217124067 + Silent SNP G G T TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr2:217124067G>T c.1201C>A c.(1201-1203)Cga>Aga p.R401R LUAD 2 217124170 217124170 + Silent SNP G G A TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr2:217124170G>A c.1098C>T c.(1096-1098)ggC>ggT p.G366G LUAD 2 217124200 217124200 + Silent SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr2:217124200G>T c.1068C>A c.(1066-1068)gcC>gcA p.A356A LUAD 2 217124231 217124231 + Missense_Mutation SNP G G T TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr2:217124231G>T c.1037C>A c.(1036-1038)tCc>tAc p.S346Y LUAD 2 217124302 217124302 + Silent SNP G G A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr2:217124302G>A c.966C>T c.(964-966)gaC>gaT p.D322D LUAD 2 217124304 217124304 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr2:217124304C>G c.964G>C c.(964-966)Gac>Cac p.D322H LUAD 2 217142428 217142428 + Missense_Mutation SNP C C A TCGA-44-6776-01A-11D-1855-08 TCGA-44-6776-10A-01D-1855-08 g.chr2:217142428C>A c.832G>T c.(832-834)Ggg>Tgg p.G278W LUAD 2 217142435 217142435 + Silent SNP G G T TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr2:217142435G>T c.825C>A c.(823-825)atC>atA p.I275I LUAD 2 217142526 217142526 + Missense_Mutation SNP G G T TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chr2:217142526G>T c.734C>A c.(733-735)tCc>tAc p.S245Y LUAD 2 217142540 217142540 + Silent SNP G G C TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr2:217142540G>C c.720C>G c.(718-720)gcC>gcG p.A240A LUAD 2 217234468 217234468 + Splice_Site SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr2:217234468C>G c.516G>C c.(514-516)caG>caC p.Q172H LUAD 2 217234623 217234623 + Missense_Mutation SNP C C A TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr2:217234623C>A c.361G>T c.(361-363)Ggc>Tgc p.G121C LUAD 2 217234653 217234653 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr2:217234653G>A c.331C>T c.(331-333)Cca>Tca p.P111S LUAD 2 217234842 217234842 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 g.chr2:217234842C>T c.142G>A c.(142-144)Gac>Aac p.D48N LUAD 2 217234937 217234937 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr2:217234937C>T c.47G>A c.(46-48)tGc>tAc p.C16Y LUSC 2 217142400 217142400 + Missense_Mutation SNP C C A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr2:217142400C>A c.860G>T c.(859-861)tGc>tTc p.C287F OV 2 217124133 217124133 + Missense_Mutation SNP A A G TCGA-61-1899-01A-01W-0639-09 TCGA-61-1899-11A-01W-0639-09 g.chr2:217124133A>G c.1135T>C c.(1135-1137)Tat>Cat p.Y379H OV 2 217142512 217142512 + Missense_Mutation SNP C C T TCGA-09-1672-01A-01W-0633-09 TCGA-09-1672-10A-01W-0633-09 g.chr2:217142512C>T c.748G>A c.(748-750)Gcc>Acc p.A250T OV 2 217142538 217142538 + Missense_Mutation SNP G G C TCGA-13-1501-01A-01W-0545-08 TCGA-13-1501-10A-01W-0546-08 g.chr2:217142538G>C c.722C>G c.(721-723)gCc>gGc p.A241G OV 2 217234468 217234468 + Splice_Site SNP C C G TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 g.chr2:217234468C>G c.516G>C c.(514-516)caG>caC p.Q172H OV 2 217234805 217234805 + Missense_Mutation SNP G G A TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 g.chr2:217234805G>A c.179C>T c.(178-180)gCg>gTg p.A60V PAAD 2 217234861 217234861 + Silent SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:217234861G>T c.123C>A c.(121-123)cgC>cgA p.R41R PCPG 2 217124370 217124370 + Missense_Mutation SNP G G A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 g.chr2:217124370G>A c.898C>T c.(898-900)Cgc>Tgc p.R300C PRAD 2 217124081 217124081 + Missense_Mutation SNP G G A TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 g.chr2:217124081G>A c.1187C>T c.(1186-1188)cCc>cTc p.P396L PRAD 2 217124369 217124369 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:217124369C>T c.899G>A c.(898-900)cGc>cAc p.R300H PRAD 2 217234544 217234544 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:217234544C>T c.440G>A c.(439-441)cGc>cAc p.R147H READ 2 217234552 217234552 + Silent SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr2:217234552G>A c.432C>T c.(430-432)acC>acT p.T144T READ 2 217234552 217234552 + Silent SNP G G A TCGA-AG-A036-01A-12W-A096-10 TCGA-AG-A036-11A-11W-A096-10 g.chr2:217234552G>A c.432C>T c.(430-432)acC>acT p.T144T SARC 2 217234774 217234774 + Silent SNP G G A TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 g.chr2:217234774G>A c.210C>T c.(208-210)ccC>ccT p.P70P SKCM 2 217124116 217124116 + Silent SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr2:217124116G>A c.1152C>T c.(1150-1152)atC>atT p.I384I SKCM 2 217124188 217124188 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr2:217124188G>A c.1080C>T c.(1078-1080)ggC>ggT p.G360G SKCM 2 217124258 217124258 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:217124258G>A c.1010C>T c.(1009-1011)tCc>tTc p.S337F SKCM 2 217124264 217124264 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:217124264C>T c.1004G>A c.(1003-1005)cGg>cAg p.R335Q SKCM 2 217124388 217124388 + Missense_Mutation SNP C C T TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr2:217124388C>T c.880G>A c.(880-882)Gaa>Aaa p.E294K SKCM 2 217124391 217124391 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:217124391G>A c.877C>T c.(877-879)Cat>Tat p.H293Y SKCM 2 217142440 217142440 + Missense_Mutation SNP G G T TCGA-D3-A51F-06A-11D-A25O-08 TCGA-D3-A51F-10A-01D-A25O-08 g.chr2:217142440G>T c.820C>A c.(820-822)Cag>Aag p.Q274K SKCM 2 217142480 217142480 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr2:217142480G>A c.780C>T c.(778-780)ttC>ttT p.F260F SKCM 2 217142513 217142513 + Silent SNP G G A TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr2:217142513G>A c.747C>T c.(745-747)atC>atT p.I249I SKCM 2 217142558 217142558 + Silent SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr2:217142558C>T c.702G>A c.(700-702)gaG>gaA p.E234E SKCM 2 217148305 217148305 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr2:217148305G>A c.664C>T c.(664-666)Cct>Tct p.P222S SKCM 2 217234482 217234482 + Nonsense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:217234482G>A c.502C>T c.(502-504)Cag>Tag p.Q168* SKCM 2 217234548 217234548 + Missense_Mutation SNP C C T TCGA-D9-A1JX-06A-11D-A19A-08 TCGA-D9-A1JX-10A-01D-A19A-08 g.chr2:217234548C>T c.436G>A c.(436-438)Gat>Aat p.D146N SKCM 2 217234553 217234553 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr2:217234553G>A c.431C>T c.(430-432)aCc>aTc p.T144I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 2 217124125 217124125 single base substitution G T synonymous_variant I381I 1143C>A BOCA-FR 2 217180868 217180868 single base substitution C T intron_variant BRCA-EU 2 217118050 217118050 single base substitution T G downstream_gene_variant BRCA-EU 2 217118512 217118512 single base substitution T A downstream_gene_variant BRCA-EU 2 217118843 217118843 single base substitution G A downstream_gene_variant BRCA-EU 2 217119284 217119284 single base substitution T C downstream_gene_variant BRCA-EU 2 217119580 217119580 single base substitution G T downstream_gene_variant BRCA-EU 2 217120293 217120293 single base substitution G A downstream_gene_variant BRCA-EU 2 217122673 217122673 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 2 217122716 217122716 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 217123050 217123050 single base substitution T C 3_prime_UTR_variant BRCA-EU 2 217124082 217124082 single base substitution G T missense_variant P396T 1186C>A BRCA-EU 2 217125566 217125566 single base substitution G A intron_variant BRCA-EU 2 217128519 217128519 single base substitution G C intron_variant BRCA-EU 2 217129277 217129277 single base substitution C T intron_variant BRCA-EU 2 217131063 217131063 single base substitution C T intron_variant BRCA-EU 2 217131153 217131153 single base substitution C T intron_variant BRCA-EU 2 217131378 217131378 single base substitution T A intron_variant BRCA-EU 2 217133136 217133136 single base substitution G A intron_variant BRCA-EU 2 217134605 217134605 single base substitution T A intron_variant BRCA-EU 2 217135426 217135426 single base substitution C T intron_variant BRCA-EU 2 217137297 217137297 single base substitution C A intron_variant BRCA-EU 2 217138105 217138105 single base substitution C T intron_variant BRCA-EU 2 217139107 217139107 single base substitution G C intron_variant BRCA-EU 2 217139235 217139235 single base substitution G T intron_variant BRCA-EU 2 217139530 217139530 single base substitution A G intron_variant BRCA-EU 2 217141606 217141606 single base substitution C G intron_variant BRCA-EU 2 217141832 217141832 single base substitution C G intron_variant BRCA-EU 2 217143333 217143333 deletion of <=200bp T - intron_variant BRCA-EU 2 217143727 217143727 single base substitution G A intron_variant BRCA-EU 2 217143729 217143729 single base substitution G A intron_variant BRCA-EU 2 217146655 217146655 single base substitution C A intron_variant BRCA-EU 2 217147783 217147783 single base substitution A T intron_variant BRCA-EU 2 217149580 217149580 single base substitution C G intron_variant BRCA-EU 2 217150781 217150781 single base substitution T A intron_variant BRCA-EU 2 217153826 217153826 single base substitution G A intron_variant BRCA-EU 2 217155159 217155159 single base substitution G T intron_variant BRCA-EU 2 217156051 217156051 single base substitution G A intron_variant BRCA-EU 2 217161048 217161048 single base substitution G A intron_variant BRCA-EU 2 217163250 217163250 single base substitution G A intron_variant BRCA-EU 2 217163490 217163490 single base substitution C T intron_variant BRCA-EU 2 217164505 217164505 single base substitution G T intron_variant BRCA-EU 2 217165178 217165178 single base substitution C G intron_variant BRCA-EU 2 217165414 217165414 single base substitution G A intron_variant BRCA-EU 2 217167055 217167055 single base substitution C A intron_variant BRCA-EU 2 217167773 217167773 single base substitution C A intron_variant BRCA-EU 2 217168536 217168536 single base substitution A T intron_variant BRCA-EU 2 217169671 217169671 single base substitution C T intron_variant BRCA-EU 2 217169827 217169827 single base substitution T A intron_variant BRCA-EU 2 217170003 217170003 single base substitution G A intron_variant BRCA-EU 2 217170919 217170919 single base substitution C G intron_variant BRCA-EU 2 217171106 217171106 single base substitution G A intron_variant BRCA-EU 2 217171891 217171891 single base substitution C T intron_variant BRCA-EU 2 217172405 217172405 single base substitution A T intron_variant BRCA-EU 2 217172406 217172406 single base substitution T G intron_variant BRCA-EU 2 217174042 217174042 single base substitution C T intron_variant BRCA-EU 2 217174383 217174383 single base substitution A C intron_variant BRCA-EU 2 217174488 217174488 single base substitution G A intron_variant BRCA-EU 2 217174850 217174850 single base substitution T A intron_variant BRCA-EU 2 217176130 217176130 single base substitution G A intron_variant BRCA-EU 2 217178175 217178175 single base substitution A G intron_variant BRCA-EU 2 217178675 217178675 single base substitution G C intron_variant BRCA-EU 2 217179246 217179246 single base substitution A G intron_variant BRCA-EU 2 217180641 217180641 single base substitution G A intron_variant BRCA-EU 2 217184910 217184910 single base substitution T C intron_variant BRCA-EU 2 217184926 217184926 single base substitution C A intron_variant BRCA-EU 2 217185463 217185463 single base substitution G T intron_variant BRCA-EU 2 217185982 217185982 single base substitution G A intron_variant BRCA-EU 2 217187273 217187273 single base substitution G A intron_variant BRCA-EU 2 217187543 217187543 single base substitution G A intron_variant BRCA-EU 2 217188383 217188383 single base substitution C G intron_variant BRCA-EU 2 217189562 217189562 single base substitution C G intron_variant BRCA-EU 2 217192071 217192071 deletion of <=200bp C - intron_variant BRCA-EU 2 217193906 217193906 single base substitution A T intron_variant BRCA-EU 2 217194565 217194565 single base substitution T A intron_variant BRCA-EU 2 217194703 217194703 single base substitution A G intron_variant BRCA-EU 2 217194989 217194989 single base substitution C G intron_variant BRCA-EU 2 217195097 217195097 single base substitution G A intron_variant BRCA-EU 2 217195749 217195749 single base substitution G C intron_variant BRCA-EU 2 217195797 217195797 single base substitution G A intron_variant BRCA-EU 2 217197060 217197060 single base substitution C T intron_variant BRCA-EU 2 217197243 217197243 deletion of <=200bp A - intron_variant BRCA-EU 2 217198194 217198194 single base substitution A G intron_variant BRCA-EU 2 217200897 217200897 single base substitution A T intron_variant BRCA-EU 2 217202290 217202290 single base substitution C T intron_variant BRCA-EU 2 217203258 217203258 single base substitution A T intron_variant BRCA-EU 2 217203881 217203881 single base substitution G C intron_variant BRCA-EU 2 217208246 217208246 single base substitution C T intron_variant BRCA-EU 2 217208876 217208876 single base substitution G A intron_variant BRCA-EU 2 217209969 217209969 single base substitution G A intron_variant BRCA-EU 2 217210515 217210515 single base substitution A G intron_variant BRCA-EU 2 217212257 217212257 single base substitution C T intron_variant BRCA-EU 2 217212324 217212324 single base substitution G A intron_variant BRCA-EU 2 217212450 217212450 deletion of <=200bp A - intron_variant BRCA-EU 2 217214941 217214941 single base substitution C G intron_variant BRCA-EU 2 217217825 217217825 single base substitution C G intron_variant BRCA-EU 2 217219003 217219003 single base substitution G C intron_variant BRCA-EU 2 217219991 217219991 single base substitution G C intron_variant BRCA-EU 2 217220306 217220306 single base substitution C G intron_variant BRCA-EU 2 217220394 217220394 single base substitution C T intron_variant BRCA-EU 2 217221307 217221307 single base substitution A T intron_variant BRCA-EU 2 217222826 217222826 single base substitution T A intron_variant BRCA-EU 2 217223262 217223262 single base substitution G A intron_variant BRCA-EU 2 217223556 217223556 single base substitution A G intron_variant BRCA-EU 2 217224456 217224456 deletion of <=200bp C - intron_variant BRCA-EU 2 217224643 217224643 single base substitution C T intron_variant BRCA-EU 2 217225023 217225023 single base substitution A G intron_variant BRCA-EU 2 217225155 217225155 single base substitution G A intron_variant BRCA-EU 2 217225568 217225568 single base substitution G A intron_variant BRCA-EU 2 217229461 217229461 single base substitution G A intron_variant BRCA-EU 2 217232411 217232411 single base substitution G A intron_variant BRCA-EU 2 217232445 217232445 single base substitution A G intron_variant BRCA-EU 2 217234221 217234221 single base substitution A T intron_variant BRCA-EU 2 217234314 217234314 single base substitution C T intron_variant BRCA-EU 2 217234451 217234451 single base substitution G C intron_variant BRCA-EU 2 217235335 217235335 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 2 217235653 217235653 single base substitution C T 5_prime_UTR_variant BRCA-EU 2 217236681 217236681 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 2 217239247 217239247 single base substitution A G upstream_gene_variant BRCA-EU 2 217239293 217239293 single base substitution C A upstream_gene_variant BRCA-EU 2 217239587 217239587 single base substitution G C upstream_gene_variant BRCA-EU 2 217240802 217240802 single base substitution G C upstream_gene_variant BRCA-EU 2 217241064 217241064 single base substitution A C upstream_gene_variant BRCA-FR 2 217124395 217124395 single base substitution G C missense_variant I291M 873C>G BRCA-FR 2 217125518 217125518 single base substitution C G intron_variant BRCA-FR 2 217127260 217127260 single base substitution G A intron_variant BRCA-FR 2 217137297 217137297 single base substitution C A intron_variant BRCA-FR 2 217139297 217139297 single base substitution T G intron_variant BRCA-FR 2 217146840 217146840 single base substitution C A intron_variant BRCA-FR 2 217158607 217158607 single base substitution C T intron_variant BRCA-FR 2 217163250 217163250 single base substitution G A intron_variant BRCA-FR 2 217164505 217164505 single base substitution G T intron_variant BRCA-FR 2 217165414 217165414 single base substitution G A intron_variant BRCA-FR 2 217169437 217169437 single base substitution G C intron_variant BRCA-FR 2 217185982 217185982 single base substitution G A intron_variant BRCA-FR 2 217187273 217187273 single base substitution G A intron_variant BRCA-FR 2 217194703 217194703 single base substitution A G intron_variant BRCA-FR 2 217194989 217194989 single base substitution C G intron_variant BRCA-FR 2 217200897 217200897 single base substitution A T intron_variant BRCA-FR 2 217202290 217202290 single base substitution C T intron_variant BRCA-FR 2 217219991 217219991 single base substitution G C intron_variant BRCA-FR 2 217239293 217239293 single base substitution C A upstream_gene_variant BRCA-UK 2 217133034 217133034 single base substitution G T intron_variant BRCA-UK 2 217155159 217155159 single base substitution G T intron_variant BRCA-UK 2 217156051 217156051 single base substitution G A intron_variant BRCA-UK 2 217167055 217167055 single base substitution C A intron_variant BRCA-UK 2 217183719 217183719 single base substitution G A intron_variant BRCA-UK 2 217239247 217239247 single base substitution A G upstream_gene_variant BRCA-US 2 217234943 217234945 deletion of <=200bp CAC - disruptive_inframe_deletion WC13C BTCA-JP 2 217124159 217124159 single base substitution C T missense_variant G370D 1109G>A BTCA-JP 2 217124358 217124358 single base substitution G A missense_variant R304W 910C>T BTCA-JP 2 217142408 217142408 single base substitution G A synonymous_variant D284D 852C>T CESC-US 2 217142480 217142480 single base substitution G A synonymous_variant F260F 780C>T CESC-US 2 217234646 217234646 single base substitution G A missense_variant S113F 338C>T CLLE-ES 2 217118545 217118545 single base substitution A G downstream_gene_variant CLLE-ES 2 217123146 217123146 single base substitution C T 3_prime_UTR_variant CLLE-ES 2 217126907 217126907 single base substitution A G intron_variant CLLE-ES 2 217128492 217128492 single base substitution C T intron_variant CLLE-ES 2 217134276 217134276 single base substitution T C intron_variant CLLE-ES 2 217136619 217136619 single base substitution T C intron_variant CLLE-ES 2 217152152 217152152 single base substitution C A intron_variant CLLE-ES 2 217173267 217173267 single base substitution A T intron_variant CLLE-ES 2 217179202 217179202 single base substitution A G intron_variant CLLE-ES 2 217195763 217195763 single base substitution A C intron_variant CLLE-ES 2 217214939 217214939 single base substitution G A intron_variant CLLE-ES 2 217216513 217216513 single base substitution T A intron_variant COAD-US 2 217124129 217124129 single base substitution G T missense_variant T380N 1139C>A COAD-US 2 217142554 217142554 single base substitution C T missense_variant V236I 706G>A COAD-US 2 217148425 217148425 single base substitution C A missense_variant D182Y 544G>T COAD-US 2 217148452 217148452 single base substitution C A missense_variant G173W 517G>T COAD-US 2 217234494 217234494 single base substitution G A missense_variant R164C 490C>T COAD-US 2 217234620 217234620 single base substitution G A missense_variant P122S 364C>T COAD-US 2 217234701 217234701 single base substitution C A stop_gained E95* 283G>T COAD-US 2 217234817 217234817 single base substitution C T missense_variant R56H 167G>A COAD-US 2 217234891 217234891 single base substitution C T missense_variant M31I 93G>A COCA-CN 2 217123958 217123958 single base substitution T C 3_prime_UTR_variant COCA-CN 2 217124172 217124172 single base substitution C T missense_variant G366S 1096G>A COCA-CN 2 217124184 217124184 single base substitution C A missense_variant A362S 1084G>T COCA-CN 2 217142538 217142538 single base substitution G T missense_variant A241D 722C>A COCA-CN 2 217187273 217187273 single base substitution G A intron_variant COCA-CN 2 217214618 217214618 single base substitution G T intron_variant COCA-CN 2 217234448 217234448 single base substitution G T intron_variant COCA-CN 2 217234771 217234771 single base substitution G C synonymous_variant P71P 213C>G COCA-CN 2 217234820 217234820 single base substitution C T missense_variant R55Q 164G>A COCA-CN 2 217234858 217234858 single base substitution G A synonymous_variant C42C 126C>T EOPC-DE 2 217162158 217162158 single base substitution G T intron_variant EOPC-DE 2 217165702 217165702 single base substitution A G intron_variant EOPC-DE 2 217206912 217206912 single base substitution C A intron_variant ESAD-UK 2 217118326 217118326 single base substitution G A downstream_gene_variant ESAD-UK 2 217118815 217118815 single base substitution A G downstream_gene_variant ESAD-UK 2 217120299 217120299 single base substitution A C downstream_gene_variant ESAD-UK 2 217120876 217120876 single base substitution T G downstream_gene_variant ESAD-UK 2 217121075 217121075 single base substitution A G downstream_gene_variant ESAD-UK 2 217121421 217121421 single base substitution G A downstream_gene_variant ESAD-UK 2 217121471 217121471 single base substitution T C downstream_gene_variant ESAD-UK 2 217121790 217121790 single base substitution T A downstream_gene_variant ESAD-UK 2 217122519 217122519 single base substitution A G downstream_gene_variant ESAD-UK 2 217122635 217122637 deletion of <=200bp AAC - 3_prime_UTR_variant ESAD-UK 2 217123138 217123138 single base substitution A G 3_prime_UTR_variant ESAD-UK 2 217123202 217123202 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 217123505 217123505 single base substitution T G 3_prime_UTR_variant ESAD-UK 2 217124791 217124791 single base substitution A G intron_variant ESAD-UK 2 217124800 217124800 single base substitution C T intron_variant ESAD-UK 2 217125522 217125522 single base substitution G A intron_variant ESAD-UK 2 217126625 217126625 single base substitution A C intron_variant ESAD-UK 2 217129271 217129271 single base substitution A G intron_variant ESAD-UK 2 217129514 217129517 deletion of <=200bp TATC - intron_variant ESAD-UK 2 217129603 217129603 single base substitution A C intron_variant ESAD-UK 2 217130303 217130303 single base substitution C T intron_variant ESAD-UK 2 217131303 217131303 single base substitution C A intron_variant ESAD-UK 2 217133342 217133342 single base substitution T C intron_variant ESAD-UK 2 217133372 217133372 single base substitution A G intron_variant ESAD-UK 2 217134021 217134021 single base substitution T G intron_variant ESAD-UK 2 217134795 217134795 single base substitution C A intron_variant ESAD-UK 2 217135474 217135474 single base substitution T C intron_variant ESAD-UK 2 217136365 217136365 single base substitution T G intron_variant ESAD-UK 2 217138396 217138396 single base substitution C A intron_variant ESAD-UK 2 217138928 217138928 single base substitution C A intron_variant ESAD-UK 2 217139092 217139092 single base substitution A C intron_variant ESAD-UK 2 217139906 217139906 single base substitution A G intron_variant ESAD-UK 2 217141644 217141644 single base substitution A T intron_variant ESAD-UK 2 217142476 217142476 single base substitution G C missense_variant P262A 784C>G ESAD-UK 2 217142627 217142627 single base substitution G A intron_variant ESAD-UK 2 217142889 217142889 single base substitution C A intron_variant ESAD-UK 2 217143116 217143116 single base substitution T G intron_variant ESAD-UK 2 217145038 217145038 single base substitution C A intron_variant ESAD-UK 2 217145100 217145100 single base substitution A C intron_variant ESAD-UK 2 217145146 217145146 single base substitution C T intron_variant ESAD-UK 2 217145279 217145279 single base substitution A C intron_variant ESAD-UK 2 217147480 217147480 single base substitution A C intron_variant ESAD-UK 2 217147720 217147720 single base substitution C G intron_variant ESAD-UK 2 217148635 217148635 single base substitution A C intron_variant ESAD-UK 2 217149032 217149032 single base substitution A C intron_variant ESAD-UK 2 217149076 217149076 single base substitution C A intron_variant ESAD-UK 2 217149152 217149152 single base substitution C A intron_variant ESAD-UK 2 217149386 217149386 single base substitution T G intron_variant ESAD-UK 2 217149566 217149566 single base substitution C T intron_variant ESAD-UK 2 217150185 217150185 single base substitution T G intron_variant ESAD-UK 2 217152525 217152525 single base substitution A T intron_variant ESAD-UK 2 217153003 217153003 deletion of <=200bp A - intron_variant ESAD-UK 2 217154673 217154673 single base substitution G T intron_variant ESAD-UK 2 217155467 217155467 single base substitution A G intron_variant ESAD-UK 2 217155925 217155925 single base substitution C A intron_variant ESAD-UK 2 217156452 217156452 single base substitution A G intron_variant ESAD-UK 2 217158595 217158595 deletion of <=200bp A - intron_variant ESAD-UK 2 217159354 217159354 single base substitution A C intron_variant ESAD-UK 2 217159596 217159596 single base substitution G A intron_variant ESAD-UK 2 217159756 217159756 single base substitution T C intron_variant ESAD-UK 2 217160819 217160819 single base substitution A C intron_variant ESAD-UK 2 217160970 217160970 single base substitution G T intron_variant ESAD-UK 2 217162055 217162055 single base substitution C G intron_variant ESAD-UK 2 217162486 217162486 single base substitution G A intron_variant ESAD-UK 2 217163207 217163207 single base substitution T C intron_variant ESAD-UK 2 217163999 217163999 single base substitution G C intron_variant ESAD-UK 2 217164010 217164010 single base substitution T G intron_variant ESAD-UK 2 217164436 217164436 single base substitution C T intron_variant ESAD-UK 2 217165027 217165027 insertion of <=200bp - AT intron_variant ESAD-UK 2 217165395 217165395 single base substitution C A intron_variant ESAD-UK 2 217165446 217165446 single base substitution C A intron_variant ESAD-UK 2 217166164 217166164 single base substitution T G intron_variant ESAD-UK 2 217166637 217166637 single base substitution A C intron_variant ESAD-UK 2 217166761 217166761 insertion of <=200bp - A intron_variant ESAD-UK 2 217166951 217166951 insertion of <=200bp - G intron_variant ESAD-UK 2 217167792 217167792 single base substitution A C intron_variant ESAD-UK 2 217168060 217168060 single base substitution G T intron_variant ESAD-UK 2 217168402 217168402 single base substitution T C intron_variant ESAD-UK 2 217169634 217169634 single base substitution G A intron_variant ESAD-UK 2 217170024 217170024 single base substitution A C intron_variant ESAD-UK 2 217171106 217171106 single base substitution G A intron_variant ESAD-UK 2 217171370 217171370 single base substitution T G intron_variant ESAD-UK 2 217172381 217172381 single base substitution C G intron_variant ESAD-UK 2 217172852 217172852 single base substitution C T intron_variant ESAD-UK 2 217174252 217174252 single base substitution G A intron_variant ESAD-UK 2 217175039 217175039 single base substitution C A intron_variant ESAD-UK 2 217175056 217175056 single base substitution C A intron_variant ESAD-UK 2 217175507 217175507 single base substitution T G intron_variant ESAD-UK 2 217175943 217175943 single base substitution G T intron_variant ESAD-UK 2 217175984 217175984 deletion of <=200bp G - intron_variant ESAD-UK 2 217176005 217176005 single base substitution G T intron_variant ESAD-UK 2 217176281 217176281 single base substitution G A intron_variant ESAD-UK 2 217176462 217176462 single base substitution T G intron_variant ESAD-UK 2 217177063 217177063 single base substitution T C intron_variant ESAD-UK 2 217177133 217177133 single base substitution G T intron_variant ESAD-UK 2 217177719 217177719 single base substitution G T intron_variant ESAD-UK 2 217178121 217178121 single base substitution G A intron_variant ESAD-UK 2 217178899 217178899 single base substitution C A intron_variant ESAD-UK 2 217179281 217179281 single base substitution A C intron_variant ESAD-UK 2 217182942 217182942 single base substitution A C intron_variant ESAD-UK 2 217183270 217183270 single base substitution T G intron_variant ESAD-UK 2 217183272 217183272 single base substitution T C intron_variant ESAD-UK 2 217183476 217183476 single base substitution C A intron_variant ESAD-UK 2 217183534 217183534 single base substitution T G intron_variant ESAD-UK 2 217186406 217186406 single base substitution A C intron_variant ESAD-UK 2 217191803 217191803 single base substitution G T intron_variant ESAD-UK 2 217192832 217192832 single base substitution A C intron_variant ESAD-UK 2 217192960 217192960 single base substitution T G intron_variant ESAD-UK 2 217193658 217193658 single base substitution G A intron_variant ESAD-UK 2 217195642 217195642 single base substitution G T intron_variant ESAD-UK 2 217196299 217196299 single base substitution T A intron_variant ESAD-UK 2 217196415 217196415 single base substitution C T intron_variant ESAD-UK 2 217197689 217197689 deletion of <=200bp A - intron_variant ESAD-UK 2 217198166 217198166 insertion of <=200bp - ATATG intron_variant ESAD-UK 2 217201341 217201341 single base substitution G T intron_variant ESAD-UK 2 217203247 217203247 single base substitution C T intron_variant ESAD-UK 2 217203831 217203831 single base substitution G T intron_variant ESAD-UK 2 217206824 217206824 single base substitution T C intron_variant ESAD-UK 2 217207114 217207114 single base substitution A G intron_variant ESAD-UK 2 217209076 217209076 single base substitution G A intron_variant ESAD-UK 2 217210042 217210042 single base substitution C G intron_variant ESAD-UK 2 217211079 217211079 deletion of <=200bp T - intron_variant ESAD-UK 2 217212103 217212103 single base substitution A C intron_variant ESAD-UK 2 217212202 217212202 single base substitution T A intron_variant ESAD-UK 2 217212312 217212312 single base substitution G A intron_variant ESAD-UK 2 217212463 217212463 single base substitution A G intron_variant ESAD-UK 2 217213097 217213097 single base substitution A G intron_variant ESAD-UK 2 217213346 217213346 single base substitution A C intron_variant ESAD-UK 2 217214757 217214757 single base substitution T G intron_variant ESAD-UK 2 217216753 217216753 deletion of <=200bp T - intron_variant ESAD-UK 2 217216758 217216758 single base substitution T G intron_variant ESAD-UK 2 217217239 217217239 deletion of <=200bp T - intron_variant ESAD-UK 2 217217253 217217253 insertion of <=200bp - T intron_variant ESAD-UK 2 217217447 217217447 single base substitution T G intron_variant ESAD-UK 2 217217756 217217756 single base substitution A C intron_variant ESAD-UK 2 217218503 217218503 single base substitution T G intron_variant ESAD-UK 2 217218639 217218639 single base substitution C T intron_variant ESAD-UK 2 217218823 217218823 single base substitution C T intron_variant ESAD-UK 2 217219190 217219190 single base substitution A G intron_variant ESAD-UK 2 217219950 217219950 single base substitution C T intron_variant ESAD-UK 2 217220085 217220085 deletion of <=200bp C - intron_variant ESAD-UK 2 217220343 217220343 single base substitution C T intron_variant ESAD-UK 2 217220863 217220863 insertion of <=200bp - T intron_variant ESAD-UK 2 217221062 217221062 single base substitution C T intron_variant ESAD-UK 2 217221618 217221618 deletion of <=200bp C - intron_variant ESAD-UK 2 217221678 217221678 single base substitution G A intron_variant ESAD-UK 2 217223353 217223353 single base substitution A G intron_variant ESAD-UK 2 217226823 217226823 single base substitution T A intron_variant ESAD-UK 2 217226908 217226908 single base substitution C A intron_variant ESAD-UK 2 217228576 217228576 single base substitution A T intron_variant ESAD-UK 2 217229334 217229334 single base substitution T G intron_variant ESAD-UK 2 217230003 217230003 single base substitution T C intron_variant ESAD-UK 2 217230462 217230462 single base substitution A G intron_variant ESAD-UK 2 217231867 217231867 single base substitution T C intron_variant ESAD-UK 2 217232667 217232667 deletion of <=200bp G - intron_variant ESAD-UK 2 217234009 217234009 single base substitution A C intron_variant ESAD-UK 2 217234996 217234996 single base substitution A C 5_prime_UTR_variant ESAD-UK 2 217235416 217235416 single base substitution C T 5_prime_UTR_variant ESAD-UK 2 217235633 217235633 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 2 217237663 217237663 single base substitution T A upstream_gene_variant ESAD-UK 2 217238443 217238443 single base substitution A G upstream_gene_variant ESAD-UK 2 217239901 217239901 single base substitution A T upstream_gene_variant ESAD-UK 2 217240881 217240881 single base substitution T G upstream_gene_variant ESAD-UK 2 217241330 217241330 single base substitution T C upstream_gene_variant ESAD-UK 2 217241395 217241395 single base substitution G A upstream_gene_variant GBM-US 2 217234856 217234856 single base substitution C T missense_variant R43H 128G>A GBM-US 2 217234886 217234886 single base substitution C T missense_variant R33H 98G>A LAML-KR 2 217185390 217185390 single base substitution C T intron_variant LAML-KR 2 217229368 217229368 single base substitution G A intron_variant LGG-US 2 217234779 217234779 deletion of <=200bp G - frameshift_variant Q69 LICA-CN 2 217234617 217234617 single base substitution C A missense_variant A123S 367G>T LICA-FR 2 217124328 217124328 single base substitution C A missense_variant V314L 940G>T LICA-FR 2 217159982 217159982 single base substitution T C intron_variant LICA-FR 2 217168689 217168689 single base substitution G A intron_variant LICA-FR 2 217177999 217177999 single base substitution C A intron_variant LICA-FR 2 217194229 217194229 single base substitution G A intron_variant LICA-FR 2 217195621 217195621 single base substitution T C intron_variant LICA-FR 2 217201738 217201738 single base substitution G T intron_variant LICA-FR 2 217229130 217229130 single base substitution C T intron_variant LICA-FR 2 217235680 217235680 single base substitution A T 5_prime_UTR_variant LICA-FR 2 217238006 217238006 single base substitution T C upstream_gene_variant LICA-FR 2 217238317 217238317 single base substitution T C upstream_gene_variant LIHC-US 2 217124210 217124210 single base substitution C T missense_variant G353D 1058G>A LIHC-US 2 217124227 217124227 single base substitution C T synonymous_variant S347S 1041G>A LIHC-US 2 217124264 217124264 single base substitution C A missense_variant R335L 1004G>T LINC-JP 2 217122291 217122291 single base substitution C T downstream_gene_variant LINC-JP 2 217123054 217123054 single base substitution G A 3_prime_UTR_variant LINC-JP 2 217133273 217133273 single base substitution C T intron_variant LINC-JP 2 217145233 217145233 single base substitution T G intron_variant LINC-JP 2 217147233 217147233 single base substitution C T intron_variant LINC-JP 2 217150671 217150671 single base substitution T C intron_variant LINC-JP 2 217154846 217154846 single base substitution A G intron_variant LINC-JP 2 217196331 217196331 single base substitution T C intron_variant LINC-JP 2 217205467 217205467 single base substitution T C intron_variant LINC-JP 2 217207218 217207218 single base substitution C T intron_variant LINC-JP 2 217219837 217219837 single base substitution G A intron_variant LINC-JP 2 217225591 217225591 single base substitution C T intron_variant LINC-JP 2 217234140 217234140 single base substitution G C intron_variant LINC-JP 2 217235058 217235058 single base substitution G T 5_prime_UTR_variant LIRI-JP 2 217119704 217119704 single base substitution T A downstream_gene_variant LIRI-JP 2 217120579 217120579 single base substitution T C downstream_gene_variant LIRI-JP 2 217120893 217120893 single base substitution C T downstream_gene_variant LIRI-JP 2 217121029 217121029 single base substitution C T downstream_gene_variant LIRI-JP 2 217121493 217121493 single base substitution C T downstream_gene_variant LIRI-JP 2 217121506 217121506 single base substitution T A downstream_gene_variant LIRI-JP 2 217122034 217122034 single base substitution G T downstream_gene_variant LIRI-JP 2 217124433 217124433 single base substitution C A intron_variant LIRI-JP 2 217126067 217126067 single base substitution C T intron_variant LIRI-JP 2 217128119 217128119 single base substitution C A intron_variant LIRI-JP 2 217131682 217131682 single base substitution A G intron_variant LIRI-JP 2 217132259 217132259 single base substitution G C intron_variant LIRI-JP 2 217132900 217132900 single base substitution G A intron_variant LIRI-JP 2 217135874 217135874 single base substitution C G intron_variant LIRI-JP 2 217135897 217135897 single base substitution A T intron_variant LIRI-JP 2 217138153 217138153 single base substitution T A intron_variant LIRI-JP 2 217138522 217138522 single base substitution T C intron_variant LIRI-JP 2 217139101 217139101 single base substitution A C intron_variant LIRI-JP 2 217142839 217142839 single base substitution A T intron_variant LIRI-JP 2 217144329 217144329 single base substitution A G intron_variant LIRI-JP 2 217147432 217147432 single base substitution A G intron_variant LIRI-JP 2 217148382 217148382 single base substitution C T stop_gained W196* 587G>A LIRI-JP 2 217148418 217148418 single base substitution G A missense_variant S184L 551C>T LIRI-JP 2 217153264 217153264 single base substitution A G intron_variant LIRI-JP 2 217154405 217154405 single base substitution A G intron_variant LIRI-JP 2 217154880 217154880 single base substitution A T intron_variant LIRI-JP 2 217155439 217155439 single base substitution A T intron_variant LIRI-JP 2 217160650 217160650 single base substitution C A intron_variant LIRI-JP 2 217160871 217160871 single base substitution T C intron_variant LIRI-JP 2 217162564 217162564 single base substitution G A intron_variant LIRI-JP 2 217162777 217162777 single base substitution G C intron_variant LIRI-JP 2 217164096 217164096 single base substitution A T intron_variant LIRI-JP 2 217164613 217164613 single base substitution T A intron_variant LIRI-JP 2 217165427 217165427 single base substitution A G intron_variant LIRI-JP 2 217166126 217166126 single base substitution G A intron_variant LIRI-JP 2 217166482 217166482 single base substitution A G intron_variant LIRI-JP 2 217166848 217166848 single base substitution A G intron_variant LIRI-JP 2 217168191 217168191 single base substitution T C intron_variant LIRI-JP 2 217169220 217169220 single base substitution C T intron_variant LIRI-JP 2 217171553 217171553 single base substitution G T intron_variant LIRI-JP 2 217172856 217172856 single base substitution A T intron_variant LIRI-JP 2 217172926 217172926 single base substitution A G intron_variant LIRI-JP 2 217174282 217174282 single base substitution G C intron_variant LIRI-JP 2 217174328 217174328 single base substitution C T intron_variant LIRI-JP 2 217174428 217174428 single base substitution C G intron_variant LIRI-JP 2 217174782 217174782 deletion of <=200bp T - intron_variant LIRI-JP 2 217175950 217175950 single base substitution T C intron_variant LIRI-JP 2 217177783 217177783 single base substitution G A intron_variant LIRI-JP 2 217177875 217177875 single base substitution T C intron_variant LIRI-JP 2 217178013 217178013 single base substitution C T intron_variant LIRI-JP 2 217178273 217178273 single base substitution G T intron_variant LIRI-JP 2 217179277 217179277 single base substitution C T intron_variant LIRI-JP 2 217179640 217179640 single base substitution T G intron_variant LIRI-JP 2 217180061 217180061 single base substitution A G intron_variant LIRI-JP 2 217180532 217180532 single base substitution C T intron_variant LIRI-JP 2 217181466 217181466 single base substitution A G intron_variant LIRI-JP 2 217182940 217182940 single base substitution G T intron_variant LIRI-JP 2 217184670 217184670 single base substitution A G intron_variant LIRI-JP 2 217186458 217186458 single base substitution A G intron_variant LIRI-JP 2 217187650 217187650 single base substitution A G intron_variant LIRI-JP 2 217187779 217187779 single base substitution T C intron_variant LIRI-JP 2 217188002 217188002 single base substitution G A intron_variant LIRI-JP 2 217193281 217193281 single base substitution G A intron_variant LIRI-JP 2 217194832 217194832 single base substitution G A intron_variant LIRI-JP 2 217195599 217195599 single base substitution G A intron_variant LIRI-JP 2 217195656 217195656 single base substitution G A intron_variant LIRI-JP 2 217195702 217195702 single base substitution A C intron_variant LIRI-JP 2 217195764 217195764 single base substitution G A intron_variant LIRI-JP 2 217196136 217196136 single base substitution T C intron_variant LIRI-JP 2 217199276 217199276 single base substitution A G intron_variant LIRI-JP 2 217199860 217199860 single base substitution G T intron_variant LIRI-JP 2 217200336 217200336 single base substitution G T intron_variant LIRI-JP 2 217200375 217200375 single base substitution C G intron_variant LIRI-JP 2 217200406 217200406 single base substitution G C intron_variant LIRI-JP 2 217204602 217204602 single base substitution G T intron_variant LIRI-JP 2 217205093 217205094 deletion of <=200bp TT - intron_variant LIRI-JP 2 217206193 217206193 single base substitution A G intron_variant LIRI-JP 2 217206630 217206630 single base substitution T C intron_variant LIRI-JP 2 217207884 217207884 single base substitution C T intron_variant LIRI-JP 2 217209048 217209055 deletion of <=200bp CTATTCTA - intron_variant LIRI-JP 2 217211835 217211835 single base substitution C T intron_variant LIRI-JP 2 217213235 217213235 single base substitution C T intron_variant LIRI-JP 2 217216238 217216238 single base substitution A G intron_variant LIRI-JP 2 217216246 217216246 single base substitution T C intron_variant LIRI-JP 2 217216865 217216865 single base substitution C T intron_variant LIRI-JP 2 217217810 217217810 single base substitution C A intron_variant LIRI-JP 2 217223236 217223236 single base substitution A G intron_variant LIRI-JP 2 217223409 217223409 single base substitution T A intron_variant LIRI-JP 2 217226125 217226125 single base substitution T C intron_variant LIRI-JP 2 217226697 217226697 single base substitution T C intron_variant LIRI-JP 2 217227860 217227860 single base substitution C T intron_variant LIRI-JP 2 217229188 217229188 single base substitution C T intron_variant LIRI-JP 2 217231514 217231514 single base substitution T G intron_variant LIRI-JP 2 217232389 217232389 single base substitution G C intron_variant LIRI-JP 2 217234174 217234174 single base substitution G A intron_variant LIRI-JP 2 217236234 217236234 single base substitution G A 5_prime_UTR_variant LIRI-JP 2 217241351 217241351 single base substitution A G upstream_gene_variant LUSC-KR 2 217118649 217118649 single base substitution C A downstream_gene_variant LUSC-KR 2 217122144 217122144 single base substitution C T downstream_gene_variant LUSC-KR 2 217122642 217122642 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 217128242 217128242 single base substitution G A intron_variant LUSC-KR 2 217128859 217128859 single base substitution G T intron_variant LUSC-KR 2 217130285 217130285 single base substitution C G intron_variant LUSC-KR 2 217130327 217130327 single base substitution C A intron_variant LUSC-KR 2 217132914 217132914 single base substitution A T intron_variant LUSC-KR 2 217137128 217137128 single base substitution T A intron_variant LUSC-KR 2 217146622 217146622 single base substitution T G intron_variant LUSC-KR 2 217149348 217149348 single base substitution C G intron_variant LUSC-KR 2 217152583 217152583 single base substitution C A intron_variant LUSC-KR 2 217157132 217157132 single base substitution C A intron_variant LUSC-KR 2 217158111 217158111 single base substitution G T intron_variant LUSC-KR 2 217158315 217158315 single base substitution G T intron_variant LUSC-KR 2 217159469 217159469 single base substitution T C intron_variant LUSC-KR 2 217161249 217161249 single base substitution G T intron_variant LUSC-KR 2 217161363 217161363 single base substitution A G intron_variant LUSC-KR 2 217163903 217163903 single base substitution T A intron_variant LUSC-KR 2 217166217 217166217 single base substitution G A intron_variant LUSC-KR 2 217166360 217166360 single base substitution G T intron_variant LUSC-KR 2 217166527 217166527 single base substitution G A intron_variant LUSC-KR 2 217168785 217168785 single base substitution G C intron_variant LUSC-KR 2 217169371 217169371 single base substitution G A intron_variant LUSC-KR 2 217169808 217169808 single base substitution C G intron_variant LUSC-KR 2 217174477 217174477 single base substitution T C intron_variant LUSC-KR 2 217174860 217174860 single base substitution G T intron_variant LUSC-KR 2 217176084 217176084 single base substitution G T intron_variant LUSC-KR 2 217179246 217179246 single base substitution A G intron_variant LUSC-KR 2 217181934 217181934 single base substitution C G intron_variant LUSC-KR 2 217188526 217188526 single base substitution C A intron_variant LUSC-KR 2 217191037 217191037 single base substitution A G intron_variant LUSC-KR 2 217192191 217192191 single base substitution A G intron_variant LUSC-KR 2 217192884 217192884 single base substitution T C intron_variant LUSC-KR 2 217207510 217207510 single base substitution C A intron_variant LUSC-KR 2 217207638 217207638 single base substitution A T intron_variant LUSC-KR 2 217207793 217207793 single base substitution A G intron_variant LUSC-KR 2 217207795 217207795 single base substitution G T intron_variant LUSC-KR 2 217212324 217212324 single base substitution G T intron_variant LUSC-KR 2 217215482 217215482 single base substitution C G intron_variant LUSC-KR 2 217216719 217216719 single base substitution G T intron_variant LUSC-KR 2 217220090 217220090 single base substitution C T intron_variant LUSC-KR 2 217225862 217225862 single base substitution T A intron_variant LUSC-KR 2 217226032 217226032 single base substitution C A intron_variant LUSC-KR 2 217227428 217227428 single base substitution A T intron_variant LUSC-KR 2 217231034 217231034 single base substitution C A intron_variant LUSC-KR 2 217234863 217234863 single base substitution G T missense_variant R41S 121C>A LUSC-KR 2 217236015 217236015 single base substitution C T 5_prime_UTR_variant LUSC-KR 2 217238263 217238263 single base substitution T A upstream_gene_variant LUSC-US 2 217142400 217142400 single base substitution C A missense_variant C287F 860G>T MALY-DE 2 217122727 217122727 single base substitution C A 3_prime_UTR_variant MALY-DE 2 217126509 217126509 single base substitution C T intron_variant MALY-DE 2 217129408 217129408 single base substitution C A intron_variant MALY-DE 2 217148573 217148573 single base substitution T C intron_variant MALY-DE 2 217153962 217153962 single base substitution C A intron_variant MALY-DE 2 217159566 217159566 single base substitution T A intron_variant MALY-DE 2 217161754 217161754 single base substitution T A intron_variant MALY-DE 2 217163835 217163835 deletion of <=200bp T - intron_variant MALY-DE 2 217165074 217165074 insertion of <=200bp - TA intron_variant MALY-DE 2 217166420 217166420 single base substitution C T intron_variant MALY-DE 2 217171565 217171565 deletion of <=200bp T - intron_variant MALY-DE 2 217173140 217173140 deletion of <=200bp A - intron_variant MALY-DE 2 217181816 217181816 single base substitution C A intron_variant MALY-DE 2 217182042 217182042 single base substitution A T intron_variant MALY-DE 2 217191872 217191872 deletion of <=200bp T - intron_variant MALY-DE 2 217194836 217194836 single base substitution A G intron_variant MALY-DE 2 217194841 217194841 single base substitution A G intron_variant MALY-DE 2 217199137 217199137 deletion of <=200bp T - intron_variant MALY-DE 2 217207226 217207226 single base substitution C T intron_variant MALY-DE 2 217210069 217210069 deletion of <=200bp T - intron_variant MALY-DE 2 217214159 217214159 single base substitution T G intron_variant MALY-DE 2 217214661 217214661 single base substitution A G intron_variant MALY-DE 2 217218478 217218478 single base substitution C T intron_variant MALY-DE 2 217219556 217219556 single base substitution G T intron_variant MALY-DE 2 217219645 217219645 single base substitution T C intron_variant MALY-DE 2 217224231 217224231 single base substitution C T intron_variant MALY-DE 2 217225541 217225541 insertion of <=200bp - T intron_variant MALY-DE 2 217226110 217226110 single base substitution G A intron_variant MALY-DE 2 217227751 217227751 single base substitution C T intron_variant MALY-DE 2 217228824 217228824 single base substitution T G intron_variant MALY-DE 2 217229628 217229628 single base substitution G T intron_variant MALY-DE 2 217236107 217236110 deletion of <=200bp CGGG - 5_prime_UTR_variant MALY-DE 2 217240586 217240586 single base substitution G T upstream_gene_variant MELA-AU 2 217117770 217117770 single base substitution G A downstream_gene_variant MELA-AU 2 217117906 217117906 single base substitution G A downstream_gene_variant MELA-AU 2 217117979 217117979 single base substitution G A downstream_gene_variant MELA-AU 2 217117992 217117992 single base substitution C T downstream_gene_variant MELA-AU 2 217118087 217118087 single base substitution G A downstream_gene_variant MELA-AU 2 217118369 217118369 single base substitution C T downstream_gene_variant MELA-AU 2 217118373 217118373 single base substitution C T downstream_gene_variant MELA-AU 2 217118377 217118377 single base substitution G A downstream_gene_variant MELA-AU 2 217118588 217118588 single base substitution C T downstream_gene_variant MELA-AU 2 217118708 217118708 single base substitution C T downstream_gene_variant MELA-AU 2 217118831 217118831 single base substitution G A downstream_gene_variant MELA-AU 2 217118974 217118974 single base substitution G A downstream_gene_variant MELA-AU 2 217119026 217119026 single base substitution G A downstream_gene_variant MELA-AU 2 217119062 217119062 single base substitution G A downstream_gene_variant MELA-AU 2 217119273 217119273 single base substitution G A downstream_gene_variant MELA-AU 2 217119418 217119418 single base substitution A T downstream_gene_variant MELA-AU 2 217119478 217119478 single base substitution C T downstream_gene_variant MELA-AU 2 217119794 217119794 single base substitution C T downstream_gene_variant MELA-AU 2 217119979 217119979 single base substitution C T downstream_gene_variant MELA-AU 2 217120133 217120133 single base substitution G A downstream_gene_variant MELA-AU 2 217120141 217120141 single base substitution G A downstream_gene_variant MELA-AU 2 217120391 217120391 single base substitution G A downstream_gene_variant MELA-AU 2 217120841 217120841 single base substitution G A downstream_gene_variant MELA-AU 2 217121516 217121516 single base substitution G A downstream_gene_variant MELA-AU 2 217121543 217121543 single base substitution C T downstream_gene_variant MELA-AU 2 217121731 217121731 single base substitution C T downstream_gene_variant MELA-AU 2 217122062 217122062 single base substitution G A downstream_gene_variant MELA-AU 2 217122386 217122386 single base substitution G A downstream_gene_variant MELA-AU 2 217122478 217122478 single base substitution G A downstream_gene_variant MELA-AU 2 217122543 217122543 single base substitution G A downstream_gene_variant MELA-AU 2 217122925 217122925 single base substitution G A 3_prime_UTR_variant MELA-AU 2 217122930 217122930 single base substitution C T 3_prime_UTR_variant MELA-AU 2 217123076 217123076 single base substitution C T 3_prime_UTR_variant MELA-AU 2 217123340 217123340 single base substitution A G 3_prime_UTR_variant MELA-AU 2 217123367 217123367 single base substitution A T 3_prime_UTR_variant MELA-AU 2 217123572 217123572 single base substitution C T 3_prime_UTR_variant MELA-AU 2 217123623 217123623 single base substitution G A 3_prime_UTR_variant MELA-AU 2 217123851 217123851 single base substitution G A 3_prime_UTR_variant MELA-AU 2 217123897 217123897 single base substitution T C 3_prime_UTR_variant MELA-AU 2 217123910 217123910 single base substitution G A 3_prime_UTR_variant MELA-AU 2 217124160 217124160 single base substitution C T missense_variant G370S 1108G>A MELA-AU 2 217124332 217124332 single base substitution C T stop_gained W312* 936G>A MELA-AU 2 217124548 217124548 single base substitution C T intron_variant MELA-AU 2 217124578 217124578 single base substitution G A intron_variant MELA-AU 2 217124631 217124631 single base substitution C T intron_variant MELA-AU 2 217124837 217124837 single base substitution C T intron_variant MELA-AU 2 217125002 217125002 single base substitution G A intron_variant MELA-AU 2 217125003 217125003 single base substitution G A intron_variant MELA-AU 2 217125110 217125110 single base substitution G A intron_variant MELA-AU 2 217125144 217125144 single base substitution G A intron_variant MELA-AU 2 217125275 217125275 single base substitution G A intron_variant MELA-AU 2 217125281 217125281 single base substitution C T intron_variant MELA-AU 2 217125353 217125353 single base substitution C G intron_variant MELA-AU 2 217125373 217125373 single base substitution G A intron_variant MELA-AU 2 217125406 217125406 single base substitution G A intron_variant MELA-AU 2 217125479 217125479 single base substitution G A intron_variant MELA-AU 2 217125491 217125491 single base substitution G C intron_variant MELA-AU 2 217125502 217125502 single base substitution C T intron_variant MELA-AU 2 217125567 217125567 single base substitution G A intron_variant MELA-AU 2 217125590 217125590 single base substitution G A intron_variant MELA-AU 2 217125754 217125754 single base substitution G A intron_variant MELA-AU 2 217125770 217125770 single base substitution C T intron_variant MELA-AU 2 217125898 217125898 single base substitution C T intron_variant MELA-AU 2 217125935 217125935 single base substitution C T intron_variant MELA-AU 2 217126123 217126123 single base substitution C T intron_variant MELA-AU 2 217126182 217126182 single base substitution G A intron_variant MELA-AU 2 217126212 217126212 single base substitution T C intron_variant MELA-AU 2 217126236 217126236 single base substitution C T intron_variant MELA-AU 2 217126416 217126416 single base substitution G A intron_variant MELA-AU 2 217126473 217126473 single base substitution G A intron_variant MELA-AU 2 217126565 217126565 single base substitution G A intron_variant MELA-AU 2 217126659 217126659 single base substitution G A intron_variant MELA-AU 2 217126715 217126715 single base substitution G A intron_variant MELA-AU 2 217126906 217126906 single base substitution G A intron_variant MELA-AU 2 217127111 217127111 single base substitution G A intron_variant MELA-AU 2 217127521 217127521 single base substitution G A intron_variant MELA-AU 2 217127568 217127568 single base substitution G A intron_variant MELA-AU 2 217127581 217127581 single base substitution A G intron_variant MELA-AU 2 217127595 217127595 single base substitution G A intron_variant MELA-AU 2 217127737 217127737 single base substitution C T intron_variant MELA-AU 2 217127789 217127789 single base substitution G A intron_variant MELA-AU 2 217127838 217127838 single base substitution G A intron_variant MELA-AU 2 217127915 217127915 single base substitution C T intron_variant MELA-AU 2 217127991 217127991 single base substitution A T intron_variant MELA-AU 2 217128254 217128254 single base substitution G A intron_variant MELA-AU 2 217128256 217128256 single base substitution G A intron_variant MELA-AU 2 217128317 217128317 single base substitution G A intron_variant MELA-AU 2 217128519 217128519 single base substitution G A intron_variant MELA-AU 2 217128694 217128694 single base substitution T C intron_variant MELA-AU 2 217128705 217128705 single base substitution C T intron_variant MELA-AU 2 217128719 217128719 single base substitution G A intron_variant MELA-AU 2 217128742 217128742 single base substitution G A intron_variant MELA-AU 2 217128854 217128854 single base substitution C T intron_variant MELA-AU 2 217128877 217128877 single base substitution G A intron_variant MELA-AU 2 217128965 217128965 single base substitution C T intron_variant MELA-AU 2 217128972 217128972 single base substitution G A intron_variant MELA-AU 2 217129047 217129047 single base substitution C T intron_variant MELA-AU 2 217129950 217129950 single base substitution G A intron_variant MELA-AU 2 217130055 217130055 single base substitution A C intron_variant MELA-AU 2 217130144 217130144 single base substitution C T intron_variant MELA-AU 2 217130325 217130325 single base substitution C T intron_variant MELA-AU 2 217130545 217130545 single base substitution C T intron_variant MELA-AU 2 217130638 217130638 single base substitution C T intron_variant MELA-AU 2 217130791 217130791 single base substitution G A intron_variant MELA-AU 2 217130829 217130829 single base substitution C T intron_variant MELA-AU 2 217131085 217131085 single base substitution G A intron_variant MELA-AU 2 217131097 217131097 single base substitution C T intron_variant MELA-AU 2 217131103 217131103 single base substitution G A intron_variant MELA-AU 2 217131104 217131104 single base substitution G A intron_variant MELA-AU 2 217131106 217131106 single base substitution G A intron_variant MELA-AU 2 217131146 217131146 single base substitution C T intron_variant MELA-AU 2 217131339 217131339 single base substitution C T intron_variant MELA-AU 2 217131565 217131565 single base substitution C T intron_variant MELA-AU 2 217131877 217131877 single base substitution C T intron_variant MELA-AU 2 217131939 217131939 single base substitution C T intron_variant MELA-AU 2 217132122 217132122 single base substitution G A intron_variant MELA-AU 2 217132573 217132573 single base substitution G A intron_variant MELA-AU 2 217132580 217132580 single base substitution G A intron_variant MELA-AU 2 217132741 217132741 single base substitution A G intron_variant MELA-AU 2 217132998 217132998 single base substitution G A intron_variant MELA-AU 2 217133155 217133155 single base substitution G A intron_variant MELA-AU 2 217133346 217133346 single base substitution C T intron_variant MELA-AU 2 217133441 217133441 single base substitution C T intron_variant MELA-AU 2 217133848 217133848 single base substitution C T intron_variant MELA-AU 2 217134002 217134002 single base substitution C T intron_variant MELA-AU 2 217134132 217134132 single base substitution G C intron_variant MELA-AU 2 217134348 217134348 single base substitution G A intron_variant MELA-AU 2 217134370 217134370 single base substitution C T intron_variant MELA-AU 2 217134538 217134538 single base substitution C G intron_variant MELA-AU 2 217134574 217134574 single base substitution C T intron_variant MELA-AU 2 217134601 217134601 single base substitution C T intron_variant MELA-AU 2 217135137 217135137 single base substitution A G intron_variant MELA-AU 2 217135168 217135168 single base substitution G A intron_variant MELA-AU 2 217135171 217135171 single base substitution C T intron_variant MELA-AU 2 217135238 217135238 single base substitution C T intron_variant MELA-AU 2 217135296 217135296 single base substitution C T intron_variant MELA-AU 2 217135438 217135438 single base substitution C T intron_variant MELA-AU 2 217135600 217135600 single base substitution C T intron_variant MELA-AU 2 217135750 217135750 single base substitution C T intron_variant MELA-AU 2 217135882 217135882 single base substitution G A intron_variant MELA-AU 2 217135904 217135904 single base substitution C T intron_variant MELA-AU 2 217136008 217136008 single base substitution C T intron_variant MELA-AU 2 217136047 217136047 single base substitution T G intron_variant MELA-AU 2 217136113 217136113 single base substitution C T intron_variant MELA-AU 2 217136359 217136359 single base substitution C T intron_variant MELA-AU 2 217136435 217136435 single base substitution C T intron_variant MELA-AU 2 217136628 217136628 single base substitution C T intron_variant MELA-AU 2 217136825 217136825 single base substitution G A intron_variant MELA-AU 2 217136982 217136982 single base substitution G A intron_variant MELA-AU 2 217137179 217137179 single base substitution C T intron_variant MELA-AU 2 217137394 217137394 single base substitution C T intron_variant MELA-AU 2 217137479 217137479 single base substitution G A intron_variant MELA-AU 2 217137637 217137637 single base substitution A T intron_variant MELA-AU 2 217137640 217137640 single base substitution T A intron_variant MELA-AU 2 217138107 217138107 single base substitution G A intron_variant MELA-AU 2 217138366 217138366 single base substitution G A intron_variant MELA-AU 2 217138371 217138371 single base substitution G A intron_variant MELA-AU 2 217138391 217138391 single base substitution G A intron_variant MELA-AU 2 217138541 217138541 single base substitution C T intron_variant MELA-AU 2 217138699 217138699 single base substitution G A intron_variant MELA-AU 2 217138715 217138715 single base substitution G A intron_variant MELA-AU 2 217138722 217138722 single base substitution C T intron_variant MELA-AU 2 217138750 217138751 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 217139125 217139125 single base substitution C T intron_variant MELA-AU 2 217139452 217139452 single base substitution C T intron_variant MELA-AU 2 217139743 217139743 single base substitution C T intron_variant MELA-AU 2 217139828 217139828 single base substitution G A intron_variant MELA-AU 2 217140021 217140021 single base substitution C T intron_variant MELA-AU 2 217140082 217140082 single base substitution C T intron_variant MELA-AU 2 217140167 217140167 single base substitution C T intron_variant MELA-AU 2 217140326 217140326 single base substitution G A intron_variant MELA-AU 2 217140462 217140462 single base substitution C T intron_variant MELA-AU 2 217140469 217140469 single base substitution C T intron_variant MELA-AU 2 217140593 217140593 single base substitution C T intron_variant MELA-AU 2 217140640 217140640 single base substitution C T intron_variant MELA-AU 2 217140723 217140723 single base substitution C T intron_variant MELA-AU 2 217140812 217140812 single base substitution T C intron_variant MELA-AU 2 217140858 217140858 single base substitution G A intron_variant MELA-AU 2 217141041 217141041 single base substitution G A intron_variant MELA-AU 2 217141583 217141583 single base substitution G A intron_variant MELA-AU 2 217141632 217141632 single base substitution G A intron_variant MELA-AU 2 217141742 217141742 single base substitution G A intron_variant MELA-AU 2 217141793 217141793 single base substitution G A intron_variant MELA-AU 2 217141906 217141906 single base substitution G A intron_variant MELA-AU 2 217141978 217141978 single base substitution C T intron_variant MELA-AU 2 217142130 217142130 single base substitution C T intron_variant MELA-AU 2 217142331 217142331 single base substitution G A intron_variant MELA-AU 2 217142343 217142343 single base substitution C T intron_variant MELA-AU 2 217142700 217142700 single base substitution G A intron_variant MELA-AU 2 217142740 217142740 single base substitution C T intron_variant MELA-AU 2 217142771 217142771 single base substitution G A intron_variant MELA-AU 2 217142841 217142841 single base substitution G A intron_variant MELA-AU 2 217142842 217142842 single base substitution G A intron_variant MELA-AU 2 217142876 217142876 single base substitution G A intron_variant MELA-AU 2 217142880 217142880 single base substitution T C intron_variant MELA-AU 2 217142972 217142972 single base substitution G A intron_variant MELA-AU 2 217142983 217142983 single base substitution C T intron_variant MELA-AU 2 217143034 217143034 single base substitution C T intron_variant MELA-AU 2 217143082 217143082 single base substitution G A intron_variant MELA-AU 2 217143153 217143153 single base substitution T C intron_variant MELA-AU 2 217143217 217143217 single base substitution G A intron_variant MELA-AU 2 217143373 217143373 single base substitution C T intron_variant MELA-AU 2 217143729 217143729 single base substitution G A intron_variant MELA-AU 2 217143798 217143798 single base substitution C T intron_variant MELA-AU 2 217144223 217144223 single base substitution G A intron_variant MELA-AU 2 217144248 217144248 single base substitution C A intron_variant MELA-AU 2 217144280 217144280 single base substitution G A intron_variant MELA-AU 2 217144396 217144396 single base substitution G A intron_variant MELA-AU 2 217144502 217144502 single base substitution C T intron_variant MELA-AU 2 217144757 217144757 single base substitution C T intron_variant MELA-AU 2 217144812 217144812 single base substitution G A intron_variant MELA-AU 2 217144940 217144940 single base substitution G A intron_variant MELA-AU 2 217145029 217145029 single base substitution C T intron_variant MELA-AU 2 217145207 217145207 single base substitution C T intron_variant MELA-AU 2 217145212 217145212 single base substitution C T intron_variant MELA-AU 2 217145269 217145269 single base substitution T G intron_variant MELA-AU 2 217145333 217145333 single base substitution C T intron_variant MELA-AU 2 217145344 217145344 single base substitution G A intron_variant MELA-AU 2 217145345 217145345 single base substitution G A intron_variant MELA-AU 2 217145511 217145511 single base substitution C T intron_variant MELA-AU 2 217145959 217145959 single base substitution T G intron_variant MELA-AU 2 217145962 217145962 single base substitution C T intron_variant MELA-AU 2 217146076 217146076 single base substitution C T intron_variant MELA-AU 2 217146190 217146190 single base substitution C T intron_variant MELA-AU 2 217146332 217146332 single base substitution G A intron_variant MELA-AU 2 217146504 217146504 single base substitution C G intron_variant MELA-AU 2 217146523 217146523 single base substitution G A intron_variant MELA-AU 2 217146654 217146654 single base substitution C T intron_variant MELA-AU 2 217147069 217147069 single base substitution G A intron_variant MELA-AU 2 217147192 217147192 single base substitution C T intron_variant MELA-AU 2 217147317 217147317 single base substitution G A intron_variant MELA-AU 2 217147472 217147472 single base substitution G A intron_variant MELA-AU 2 217147754 217147754 single base substitution C T intron_variant MELA-AU 2 217148047 217148047 single base substitution C T intron_variant MELA-AU 2 217148189 217148189 single base substitution C T intron_variant MELA-AU 2 217148195 217148195 single base substitution C T intron_variant MELA-AU 2 217148324 217148324 single base substitution G A synonymous_variant I215I 645C>T MELA-AU 2 217148545 217148545 single base substitution G A intron_variant MELA-AU 2 217148610 217148610 single base substitution C T intron_variant MELA-AU 2 217148739 217148739 single base substitution C T intron_variant MELA-AU 2 217148887 217148887 single base substitution G A intron_variant MELA-AU 2 217148888 217148888 single base substitution G A intron_variant MELA-AU 2 217149102 217149102 single base substitution C T intron_variant MELA-AU 2 217149312 217149312 single base substitution C T intron_variant MELA-AU 2 217149383 217149383 single base substitution C T intron_variant MELA-AU 2 217149743 217149743 single base substitution G A intron_variant MELA-AU 2 217150119 217150119 single base substitution G A intron_variant MELA-AU 2 217150245 217150245 single base substitution C T intron_variant MELA-AU 2 217150464 217150464 single base substitution G A intron_variant MELA-AU 2 217150498 217150498 single base substitution G A intron_variant MELA-AU 2 217150817 217150818 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 2 217150904 217150904 single base substitution C T intron_variant MELA-AU 2 217150912 217150912 single base substitution G A intron_variant MELA-AU 2 217151355 217151355 single base substitution T C intron_variant MELA-AU 2 217151587 217151587 single base substitution G A intron_variant MELA-AU 2 217151830 217151830 single base substitution T A intron_variant MELA-AU 2 217151858 217151858 single base substitution C T intron_variant MELA-AU 2 217152744 217152744 single base substitution G A intron_variant MELA-AU 2 217152958 217152958 single base substitution G A intron_variant MELA-AU 2 217153260 217153260 single base substitution G A intron_variant MELA-AU 2 217153528 217153528 single base substitution G A intron_variant MELA-AU 2 217153653 217153653 single base substitution C T intron_variant MELA-AU 2 217153940 217153940 single base substitution C T intron_variant MELA-AU 2 217154086 217154086 single base substitution C T intron_variant MELA-AU 2 217154141 217154141 single base substitution C T intron_variant MELA-AU 2 217154415 217154415 single base substitution C T intron_variant MELA-AU 2 217154711 217154711 single base substitution C T intron_variant MELA-AU 2 217154881 217154881 single base substitution A G intron_variant MELA-AU 2 217154929 217154929 single base substitution C T intron_variant MELA-AU 2 217155098 217155098 single base substitution G A intron_variant MELA-AU 2 217155270 217155270 single base substitution G A intron_variant MELA-AU 2 217155344 217155344 single base substitution G A intron_variant MELA-AU 2 217155576 217155576 single base substitution G A intron_variant MELA-AU 2 217155607 217155607 single base substitution G A intron_variant MELA-AU 2 217156103 217156103 single base substitution G A intron_variant MELA-AU 2 217156213 217156213 single base substitution G A intron_variant MELA-AU 2 217156914 217156914 single base substitution C T intron_variant MELA-AU 2 217156969 217156969 single base substitution G A intron_variant MELA-AU 2 217157130 217157130 single base substitution C T intron_variant MELA-AU 2 217157132 217157132 single base substitution C T intron_variant MELA-AU 2 217157438 217157438 single base substitution A T intron_variant MELA-AU 2 217157497 217157497 single base substitution C T intron_variant MELA-AU 2 217157548 217157548 single base substitution C T intron_variant MELA-AU 2 217157779 217157780 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 217157809 217157809 single base substitution C T intron_variant MELA-AU 2 217157823 217157823 single base substitution G A intron_variant MELA-AU 2 217157985 217157985 single base substitution C T intron_variant MELA-AU 2 217158052 217158052 single base substitution G A intron_variant MELA-AU 2 217158373 217158373 single base substitution C T intron_variant MELA-AU 2 217158803 217158803 single base substitution C G intron_variant MELA-AU 2 217158865 217158865 single base substitution G A intron_variant MELA-AU 2 217159908 217159908 single base substitution G A intron_variant MELA-AU 2 217160008 217160008 single base substitution G A intron_variant MELA-AU 2 217160247 217160247 single base substitution C T intron_variant MELA-AU 2 217160258 217160258 single base substitution C A intron_variant MELA-AU 2 217160391 217160391 single base substitution C T intron_variant MELA-AU 2 217160747 217160747 single base substitution T C intron_variant MELA-AU 2 217160780 217160780 single base substitution G A intron_variant MELA-AU 2 217161199 217161199 single base substitution C T intron_variant MELA-AU 2 217161320 217161320 single base substitution C T intron_variant MELA-AU 2 217161497 217161497 single base substitution C T intron_variant MELA-AU 2 217161614 217161614 single base substitution C T intron_variant MELA-AU 2 217161677 217161677 single base substitution C T intron_variant MELA-AU 2 217161748 217161748 single base substitution G A intron_variant MELA-AU 2 217161917 217161917 single base substitution C T intron_variant MELA-AU 2 217161961 217161961 single base substitution G A intron_variant MELA-AU 2 217161988 217161988 single base substitution C T intron_variant MELA-AU 2 217162082 217162082 single base substitution C T intron_variant MELA-AU 2 217162089 217162089 single base substitution C T intron_variant MELA-AU 2 217162466 217162466 single base substitution C T intron_variant MELA-AU 2 217162521 217162521 single base substitution C T intron_variant MELA-AU 2 217163227 217163227 single base substitution G A intron_variant MELA-AU 2 217163259 217163259 single base substitution G A intron_variant MELA-AU 2 217163365 217163365 single base substitution G A intron_variant MELA-AU 2 217163430 217163430 single base substitution C T intron_variant MELA-AU 2 217163803 217163803 single base substitution A C intron_variant MELA-AU 2 217163846 217163846 single base substitution C T intron_variant MELA-AU 2 217163847 217163847 single base substitution C T intron_variant MELA-AU 2 217164297 217164297 single base substitution C T intron_variant MELA-AU 2 217164311 217164311 single base substitution C T intron_variant MELA-AU 2 217164562 217164562 single base substitution T C intron_variant MELA-AU 2 217164648 217164648 single base substitution G A intron_variant MELA-AU 2 217165041 217165041 insertion of <=200bp - AT intron_variant MELA-AU 2 217165060 217165060 single base substitution G A intron_variant MELA-AU 2 217165074 217165074 insertion of <=200bp - TA intron_variant MELA-AU 2 217165074 217165075 deletion of <=200bp TA - intron_variant MELA-AU 2 217165320 217165320 single base substitution T C intron_variant MELA-AU 2 217165339 217165339 single base substitution G A intron_variant MELA-AU 2 217165349 217165349 single base substitution A G intron_variant MELA-AU 2 217165515 217165515 single base substitution G A intron_variant MELA-AU 2 217165693 217165693 single base substitution C T intron_variant MELA-AU 2 217165699 217165699 single base substitution C T intron_variant MELA-AU 2 217165736 217165736 single base substitution C T intron_variant MELA-AU 2 217165802 217165802 single base substitution G A intron_variant MELA-AU 2 217165824 217165824 single base substitution C T intron_variant MELA-AU 2 217166183 217166183 single base substitution C T intron_variant MELA-AU 2 217166436 217166436 single base substitution G A intron_variant MELA-AU 2 217166888 217166888 single base substitution C T intron_variant MELA-AU 2 217166951 217166951 single base substitution T C intron_variant MELA-AU 2 217167293 217167293 single base substitution G A intron_variant MELA-AU 2 217167324 217167324 single base substitution G A intron_variant MELA-AU 2 217167331 217167331 single base substitution G A intron_variant MELA-AU 2 217167352 217167352 single base substitution G A intron_variant MELA-AU 2 217167415 217167415 single base substitution G A intron_variant MELA-AU 2 217167712 217167712 single base substitution C T intron_variant MELA-AU 2 217167762 217167762 single base substitution C T intron_variant MELA-AU 2 217167824 217167824 single base substitution G A intron_variant MELA-AU 2 217167928 217167928 single base substitution G A intron_variant MELA-AU 2 217168123 217168123 single base substitution A T intron_variant MELA-AU 2 217168158 217168159 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 2 217168354 217168354 single base substitution G A intron_variant MELA-AU 2 217168630 217168630 single base substitution C T intron_variant MELA-AU 2 217168740 217168740 single base substitution G A intron_variant MELA-AU 2 217168747 217168747 single base substitution G A intron_variant MELA-AU 2 217168967 217168967 single base substitution C T intron_variant MELA-AU 2 217169163 217169163 single base substitution C T intron_variant MELA-AU 2 217169173 217169173 single base substitution G A intron_variant MELA-AU 2 217169263 217169263 single base substitution C T intron_variant MELA-AU 2 217169314 217169314 single base substitution T C intron_variant MELA-AU 2 217169357 217169357 single base substitution C T intron_variant MELA-AU 2 217169445 217169445 single base substitution G A intron_variant MELA-AU 2 217169499 217169499 single base substitution A T intron_variant MELA-AU 2 217169587 217169587 single base substitution G A intron_variant MELA-AU 2 217169591 217169591 single base substitution C T intron_variant MELA-AU 2 217169606 217169606 single base substitution G A intron_variant MELA-AU 2 217169752 217169752 single base substitution C T intron_variant MELA-AU 2 217169949 217169949 single base substitution G A intron_variant MELA-AU 2 217170007 217170007 single base substitution G A intron_variant MELA-AU 2 217170122 217170122 single base substitution G A intron_variant MELA-AU 2 217170130 217170130 single base substitution C T intron_variant MELA-AU 2 217170146 217170146 single base substitution C T intron_variant MELA-AU 2 217170158 217170159 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 217170355 217170355 single base substitution C T intron_variant MELA-AU 2 217170561 217170561 single base substitution G A intron_variant MELA-AU 2 217170565 217170565 single base substitution G A intron_variant MELA-AU 2 217170584 217170584 single base substitution C T intron_variant MELA-AU 2 217170609 217170609 single base substitution G A intron_variant MELA-AU 2 217170744 217170744 single base substitution C T intron_variant MELA-AU 2 217170816 217170816 single base substitution G A intron_variant MELA-AU 2 217171269 217171269 single base substitution G A intron_variant MELA-AU 2 217171527 217171527 single base substitution G A intron_variant MELA-AU 2 217171527 217171527 single base substitution G T intron_variant MELA-AU 2 217171732 217171732 single base substitution C T intron_variant MELA-AU 2 217171813 217171813 single base substitution C T intron_variant MELA-AU 2 217171953 217171953 single base substitution G A intron_variant MELA-AU 2 217171983 217171983 single base substitution G A intron_variant MELA-AU 2 217172112 217172112 single base substitution G A intron_variant MELA-AU 2 217172180 217172180 single base substitution G A intron_variant MELA-AU 2 217172223 217172223 single base substitution G A intron_variant MELA-AU 2 217172272 217172272 single base substitution G A intron_variant MELA-AU 2 217172466 217172466 single base substitution G A intron_variant MELA-AU 2 217172485 217172485 single base substitution C T intron_variant MELA-AU 2 217172540 217172540 single base substitution G A intron_variant MELA-AU 2 217172560 217172560 single base substitution G A intron_variant MELA-AU 2 217172815 217172815 single base substitution G A intron_variant MELA-AU 2 217172946 217172946 single base substitution G A intron_variant MELA-AU 2 217172964 217172964 single base substitution C A intron_variant MELA-AU 2 217173033 217173033 single base substitution C T intron_variant MELA-AU 2 217173597 217173597 single base substitution C T intron_variant MELA-AU 2 217173736 217173736 single base substitution G A intron_variant MELA-AU 2 217173766 217173766 single base substitution C T intron_variant MELA-AU 2 217173825 217173825 single base substitution G A intron_variant MELA-AU 2 217173861 217173861 single base substitution G A intron_variant MELA-AU 2 217174095 217174095 single base substitution C T intron_variant MELA-AU 2 217174506 217174506 single base substitution T C intron_variant MELA-AU 2 217174658 217174658 single base substitution C T intron_variant MELA-AU 2 217174742 217174742 single base substitution G A intron_variant MELA-AU 2 217174985 217174985 single base substitution C T intron_variant MELA-AU 2 217175293 217175293 single base substitution C T intron_variant MELA-AU 2 217175675 217175675 single base substitution G A intron_variant MELA-AU 2 217175770 217175770 single base substitution G A intron_variant MELA-AU 2 217175792 217175792 single base substitution T C intron_variant MELA-AU 2 217176116 217176116 single base substitution G A intron_variant MELA-AU 2 217176351 217176351 single base substitution G A intron_variant MELA-AU 2 217176706 217176706 single base substitution T A intron_variant MELA-AU 2 217176846 217176846 single base substitution C T intron_variant MELA-AU 2 217176874 217176874 single base substitution A T intron_variant MELA-AU 2 217176890 217176890 single base substitution C T intron_variant MELA-AU 2 217177018 217177018 single base substitution T A intron_variant MELA-AU 2 217177179 217177179 single base substitution T A intron_variant MELA-AU 2 217177191 217177191 single base substitution G A intron_variant MELA-AU 2 217177759 217177759 single base substitution C T intron_variant MELA-AU 2 217177794 217177794 single base substitution G A intron_variant MELA-AU 2 217177800 217177800 single base substitution C T intron_variant MELA-AU 2 217177810 217177810 single base substitution C T intron_variant MELA-AU 2 217177931 217177931 single base substitution C T intron_variant MELA-AU 2 217178094 217178094 single base substitution A G intron_variant MELA-AU 2 217178404 217178404 single base substitution G A intron_variant MELA-AU 2 217178404 217178404 single base substitution G C intron_variant MELA-AU 2 217178466 217178466 single base substitution G A intron_variant MELA-AU 2 217178961 217178961 single base substitution G A intron_variant MELA-AU 2 217178974 217178974 single base substitution G A intron_variant MELA-AU 2 217179010 217179010 single base substitution G A intron_variant MELA-AU 2 217179204 217179204 single base substitution G A intron_variant MELA-AU 2 217179343 217179343 single base substitution G T intron_variant MELA-AU 2 217179419 217179419 single base substitution G A intron_variant MELA-AU 2 217179844 217179844 single base substitution G A intron_variant MELA-AU 2 217179850 217179850 single base substitution G A intron_variant MELA-AU 2 217179986 217179986 single base substitution G A intron_variant MELA-AU 2 217180089 217180089 single base substitution G A intron_variant MELA-AU 2 217180379 217180379 single base substitution G A intron_variant MELA-AU 2 217180804 217180804 single base substitution G A intron_variant MELA-AU 2 217180964 217180964 single base substitution A T intron_variant MELA-AU 2 217181230 217181230 single base substitution G A intron_variant MELA-AU 2 217181484 217181484 single base substitution C T intron_variant MELA-AU 2 217181531 217181531 single base substitution C T intron_variant MELA-AU 2 217181654 217181654 single base substitution G A intron_variant MELA-AU 2 217181866 217181866 single base substitution C T intron_variant MELA-AU 2 217181934 217181934 single base substitution C T intron_variant MELA-AU 2 217182095 217182095 single base substitution G A intron_variant MELA-AU 2 217182379 217182379 single base substitution C T intron_variant MELA-AU 2 217182723 217182723 single base substitution C T intron_variant MELA-AU 2 217182756 217182756 single base substitution G A intron_variant MELA-AU 2 217182924 217182924 single base substitution G A intron_variant MELA-AU 2 217183058 217183058 single base substitution G A intron_variant MELA-AU 2 217183214 217183214 single base substitution G A intron_variant MELA-AU 2 217183266 217183266 single base substitution G A intron_variant MELA-AU 2 217183520 217183520 single base substitution C T intron_variant MELA-AU 2 217183551 217183551 single base substitution G A intron_variant MELA-AU 2 217183579 217183580 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 217183707 217183707 single base substitution A G intron_variant MELA-AU 2 217183712 217183712 single base substitution G A intron_variant MELA-AU 2 217184167 217184167 single base substitution G A intron_variant MELA-AU 2 217184205 217184205 single base substitution G A intron_variant MELA-AU 2 217184210 217184210 single base substitution A G intron_variant MELA-AU 2 217184311 217184311 single base substitution C T intron_variant MELA-AU 2 217185083 217185083 single base substitution T C intron_variant MELA-AU 2 217185358 217185358 single base substitution C T intron_variant MELA-AU 2 217185462 217185462 single base substitution C T intron_variant MELA-AU 2 217185568 217185568 single base substitution T A intron_variant MELA-AU 2 217185593 217185593 single base substitution G A intron_variant MELA-AU 2 217185773 217185773 single base substitution G A intron_variant MELA-AU 2 217186000 217186000 single base substitution G A intron_variant MELA-AU 2 217186162 217186162 single base substitution G A intron_variant MELA-AU 2 217186533 217186534 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 217186575 217186575 single base substitution C T intron_variant MELA-AU 2 217186582 217186582 single base substitution G A intron_variant MELA-AU 2 217186634 217186634 single base substitution C T intron_variant MELA-AU 2 217186801 217186801 single base substitution G A intron_variant MELA-AU 2 217187252 217187252 single base substitution G A intron_variant MELA-AU 2 217187527 217187527 single base substitution G A intron_variant MELA-AU 2 217187541 217187541 single base substitution C T intron_variant MELA-AU 2 217187695 217187695 single base substitution C T intron_variant MELA-AU 2 217187734 217187734 single base substitution C T intron_variant MELA-AU 2 217187847 217187847 single base substitution C T intron_variant MELA-AU 2 217188058 217188058 single base substitution C T intron_variant MELA-AU 2 217188072 217188072 single base substitution G A intron_variant MELA-AU 2 217188262 217188262 single base substitution C T intron_variant MELA-AU 2 217188313 217188313 single base substitution G A intron_variant MELA-AU 2 217188548 217188548 single base substitution G A intron_variant MELA-AU 2 217188702 217188702 single base substitution G A intron_variant MELA-AU 2 217189880 217189880 single base substitution C T intron_variant MELA-AU 2 217189907 217189907 single base substitution G A intron_variant MELA-AU 2 217189962 217189962 single base substitution C T intron_variant MELA-AU 2 217190360 217190361 multiple base substitution (>=2bp and <=200bp) GC AT intron_variant MELA-AU 2 217190394 217190394 single base substitution C T intron_variant MELA-AU 2 217191386 217191386 single base substitution G A intron_variant MELA-AU 2 217191410 217191410 single base substitution C T intron_variant MELA-AU 2 217191670 217191670 single base substitution A G intron_variant MELA-AU 2 217191772 217191772 single base substitution C T intron_variant MELA-AU 2 217192059 217192059 single base substitution G A intron_variant MELA-AU 2 217192135 217192135 single base substitution T C intron_variant MELA-AU 2 217192361 217192361 single base substitution T C intron_variant MELA-AU 2 217192615 217192615 single base substitution C T intron_variant MELA-AU 2 217192956 217192956 single base substitution G A intron_variant MELA-AU 2 217193115 217193115 single base substitution C T intron_variant MELA-AU 2 217193536 217193536 single base substitution G A intron_variant MELA-AU 2 217193735 217193735 single base substitution G A intron_variant MELA-AU 2 217193825 217193825 single base substitution C T intron_variant MELA-AU 2 217193839 217193839 single base substitution C T intron_variant MELA-AU 2 217193875 217193875 single base substitution G A intron_variant MELA-AU 2 217193886 217193886 single base substitution G A intron_variant MELA-AU 2 217194141 217194141 single base substitution G A intron_variant MELA-AU 2 217194169 217194169 single base substitution G A intron_variant MELA-AU 2 217194282 217194282 single base substitution G A intron_variant MELA-AU 2 217194283 217194283 single base substitution G A intron_variant MELA-AU 2 217194307 217194307 single base substitution G A intron_variant MELA-AU 2 217194427 217194427 single base substitution G A intron_variant MELA-AU 2 217194447 217194447 single base substitution G A intron_variant MELA-AU 2 217194522 217194522 single base substitution G A intron_variant MELA-AU 2 217194634 217194634 single base substitution C T intron_variant MELA-AU 2 217194775 217194775 single base substitution C T intron_variant MELA-AU 2 217194846 217194846 single base substitution A T intron_variant MELA-AU 2 217195097 217195097 single base substitution G A intron_variant MELA-AU 2 217195143 217195143 single base substitution A T intron_variant MELA-AU 2 217195163 217195163 single base substitution G A intron_variant MELA-AU 2 217195468 217195468 single base substitution C T intron_variant MELA-AU 2 217195478 217195478 single base substitution C T intron_variant MELA-AU 2 217195656 217195656 single base substitution G A intron_variant MELA-AU 2 217195682 217195682 single base substitution G A intron_variant MELA-AU 2 217195758 217195758 single base substitution G A intron_variant MELA-AU 2 217195837 217195837 single base substitution G A intron_variant MELA-AU 2 217195867 217195867 single base substitution G A intron_variant MELA-AU 2 217195874 217195874 single base substitution A G intron_variant MELA-AU 2 217195915 217195915 single base substitution C T intron_variant MELA-AU 2 217196467 217196467 single base substitution A T intron_variant MELA-AU 2 217196482 217196482 single base substitution G A intron_variant MELA-AU 2 217196653 217196653 single base substitution A G intron_variant MELA-AU 2 217196740 217196740 single base substitution A T intron_variant MELA-AU 2 217196883 217196883 single base substitution G A intron_variant MELA-AU 2 217196885 217196885 single base substitution G A intron_variant MELA-AU 2 217196889 217196889 single base substitution G A intron_variant MELA-AU 2 217197169 217197169 single base substitution A C intron_variant MELA-AU 2 217197284 217197284 single base substitution G A intron_variant MELA-AU 2 217197404 217197404 single base substitution A T intron_variant MELA-AU 2 217197417 217197417 single base substitution A G intron_variant MELA-AU 2 217197576 217197576 single base substitution C T intron_variant MELA-AU 2 217197962 217197962 single base substitution C T intron_variant MELA-AU 2 217198033 217198033 single base substitution C T intron_variant MELA-AU 2 217198151 217198151 single base substitution C T intron_variant MELA-AU 2 217198255 217198255 single base substitution G A intron_variant MELA-AU 2 217198276 217198276 single base substitution G A intron_variant MELA-AU 2 217198417 217198417 single base substitution C T intron_variant MELA-AU 2 217198490 217198490 single base substitution C T intron_variant MELA-AU 2 217198655 217198655 single base substitution C T intron_variant MELA-AU 2 217198760 217198760 single base substitution C T intron_variant MELA-AU 2 217198776 217198776 single base substitution G A intron_variant MELA-AU 2 217198913 217198913 single base substitution G A intron_variant MELA-AU 2 217198995 217198996 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 217199079 217199079 single base substitution G A intron_variant MELA-AU 2 217199090 217199090 single base substitution G A intron_variant MELA-AU 2 217199120 217199120 single base substitution G A intron_variant MELA-AU 2 217199233 217199233 single base substitution C T intron_variant MELA-AU 2 217199326 217199326 single base substitution C T intron_variant MELA-AU 2 217199579 217199579 single base substitution C T intron_variant MELA-AU 2 217199587 217199587 single base substitution G A intron_variant MELA-AU 2 217199743 217199743 single base substitution G A intron_variant MELA-AU 2 217199906 217199906 single base substitution T A intron_variant MELA-AU 2 217200098 217200098 single base substitution C T intron_variant MELA-AU 2 217200601 217200601 single base substitution G A intron_variant MELA-AU 2 217200991 217200991 single base substitution G A intron_variant MELA-AU 2 217201214 217201214 single base substitution C T intron_variant MELA-AU 2 217201357 217201357 single base substitution G A intron_variant MELA-AU 2 217201418 217201418 single base substitution C T intron_variant MELA-AU 2 217201565 217201565 single base substitution C T intron_variant MELA-AU 2 217201622 217201622 single base substitution C T intron_variant MELA-AU 2 217201869 217201869 single base substitution C T intron_variant MELA-AU 2 217202019 217202019 single base substitution G A intron_variant MELA-AU 2 217202177 217202177 single base substitution G A intron_variant MELA-AU 2 217202186 217202186 single base substitution C T intron_variant MELA-AU 2 217202269 217202269 single base substitution C T intron_variant MELA-AU 2 217202323 217202323 single base substitution C A intron_variant MELA-AU 2 217202375 217202375 single base substitution C T intron_variant MELA-AU 2 217202403 217202403 single base substitution T C intron_variant MELA-AU 2 217202502 217202502 single base substitution G A intron_variant MELA-AU 2 217202623 217202623 single base substitution G A intron_variant MELA-AU 2 217202624 217202624 single base substitution G A intron_variant MELA-AU 2 217203057 217203057 single base substitution C T intron_variant MELA-AU 2 217203071 217203071 single base substitution C T intron_variant MELA-AU 2 217203238 217203238 single base substitution C T intron_variant MELA-AU 2 217203576 217203576 single base substitution C T intron_variant MELA-AU 2 217203589 217203589 single base substitution C T intron_variant MELA-AU 2 217203745 217203745 single base substitution C T intron_variant MELA-AU 2 217203777 217203777 single base substitution G A intron_variant MELA-AU 2 217203883 217203883 single base substitution G A intron_variant MELA-AU 2 217203988 217203988 single base substitution C T intron_variant MELA-AU 2 217204060 217204060 single base substitution C T intron_variant MELA-AU 2 217204084 217204084 single base substitution G A intron_variant MELA-AU 2 217204085 217204085 single base substitution G A intron_variant MELA-AU 2 217204132 217204132 single base substitution C T intron_variant MELA-AU 2 217204160 217204160 single base substitution G A intron_variant MELA-AU 2 217204563 217204563 single base substitution G A intron_variant MELA-AU 2 217204967 217204967 single base substitution G A intron_variant MELA-AU 2 217204981 217204981 single base substitution G A intron_variant MELA-AU 2 217204996 217204997 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 217205074 217205074 single base substitution G A intron_variant MELA-AU 2 217205174 217205174 single base substitution G A intron_variant MELA-AU 2 217205192 217205192 single base substitution C T intron_variant MELA-AU 2 217205363 217205363 single base substitution C T intron_variant MELA-AU 2 217205382 217205382 single base substitution G A intron_variant MELA-AU 2 217205473 217205473 single base substitution G A intron_variant MELA-AU 2 217205475 217205475 single base substitution G A intron_variant MELA-AU 2 217205596 217205596 single base substitution G A intron_variant MELA-AU 2 217205737 217205737 single base substitution C T intron_variant MELA-AU 2 217205981 217205981 single base substitution G A intron_variant MELA-AU 2 217206071 217206071 single base substitution C T intron_variant MELA-AU 2 217206104 217206104 single base substitution G A intron_variant MELA-AU 2 217206156 217206156 single base substitution A T intron_variant MELA-AU 2 217206314 217206314 single base substitution C T intron_variant MELA-AU 2 217206410 217206410 single base substitution G A intron_variant MELA-AU 2 217206459 217206459 single base substitution C T intron_variant MELA-AU 2 217206507 217206507 single base substitution G A intron_variant MELA-AU 2 217206547 217206547 single base substitution G A intron_variant MELA-AU 2 217206618 217206618 single base substitution G A intron_variant MELA-AU 2 217206637 217206637 single base substitution G A intron_variant MELA-AU 2 217206640 217206640 single base substitution A G intron_variant MELA-AU 2 217206651 217206651 single base substitution C T intron_variant MELA-AU 2 217206683 217206683 single base substitution T C intron_variant MELA-AU 2 217206715 217206715 single base substitution G A intron_variant MELA-AU 2 217206803 217206803 single base substitution C T intron_variant MELA-AU 2 217206885 217206885 single base substitution T C intron_variant MELA-AU 2 217207041 217207041 single base substitution C T intron_variant MELA-AU 2 217207062 217207062 single base substitution G A intron_variant MELA-AU 2 217207181 217207181 single base substitution G A intron_variant MELA-AU 2 217207247 217207247 single base substitution T C intron_variant MELA-AU 2 217207440 217207440 single base substitution G A intron_variant MELA-AU 2 217207543 217207543 single base substitution C T intron_variant MELA-AU 2 217207671 217207672 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 217208560 217208560 single base substitution G A intron_variant MELA-AU 2 217208651 217208651 single base substitution G A intron_variant MELA-AU 2 217208714 217208715 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 2 217209089 217209089 single base substitution G A intron_variant MELA-AU 2 217209106 217209106 single base substitution C T intron_variant MELA-AU 2 217209136 217209136 single base substitution G A intron_variant MELA-AU 2 217209267 217209267 single base substitution G A intron_variant MELA-AU 2 217209517 217209517 single base substitution C T intron_variant MELA-AU 2 217209546 217209546 single base substitution G A intron_variant MELA-AU 2 217209680 217209680 single base substitution G A intron_variant MELA-AU 2 217209712 217209712 single base substitution G A intron_variant MELA-AU 2 217209731 217209731 single base substitution A G intron_variant MELA-AU 2 217209800 217209800 single base substitution C T intron_variant MELA-AU 2 217210220 217210220 single base substitution C T intron_variant MELA-AU 2 217210277 217210277 single base substitution G A intron_variant MELA-AU 2 217210689 217210689 single base substitution C T intron_variant MELA-AU 2 217210843 217210843 single base substitution C T intron_variant MELA-AU 2 217210974 217210974 single base substitution C T intron_variant MELA-AU 2 217211203 217211203 single base substitution G A intron_variant MELA-AU 2 217211411 217211411 single base substitution C T intron_variant MELA-AU 2 217211418 217211418 single base substitution T C intron_variant MELA-AU 2 217211563 217211563 single base substitution C T intron_variant MELA-AU 2 217211592 217211592 single base substitution C T intron_variant MELA-AU 2 217211618 217211618 single base substitution G A intron_variant MELA-AU 2 217211636 217211636 deletion of <=200bp G - intron_variant MELA-AU 2 217211641 217211642 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 2 217211740 217211740 single base substitution C T intron_variant MELA-AU 2 217211826 217211826 single base substitution C T intron_variant MELA-AU 2 217212013 217212013 single base substitution A G intron_variant MELA-AU 2 217212093 217212093 single base substitution G C intron_variant MELA-AU 2 217212193 217212193 single base substitution C T intron_variant MELA-AU 2 217212628 217212628 single base substitution C T intron_variant MELA-AU 2 217212697 217212697 single base substitution G A intron_variant MELA-AU 2 217212741 217212741 single base substitution G A intron_variant MELA-AU 2 217212998 217212998 single base substitution G A intron_variant MELA-AU 2 217213018 217213018 single base substitution T G intron_variant MELA-AU 2 217213209 217213209 single base substitution C T intron_variant MELA-AU 2 217213292 217213293 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 217213342 217213342 single base substitution C T intron_variant MELA-AU 2 217214352 217214352 single base substitution T G intron_variant MELA-AU 2 217214669 217214669 single base substitution G A intron_variant MELA-AU 2 217214727 217214727 single base substitution C T intron_variant MELA-AU 2 217214750 217214750 single base substitution G A intron_variant MELA-AU 2 217215195 217215195 single base substitution C T intron_variant MELA-AU 2 217215331 217215331 single base substitution G A intron_variant MELA-AU 2 217215419 217215419 single base substitution C T intron_variant MELA-AU 2 217215556 217215556 single base substitution C T intron_variant MELA-AU 2 217216292 217216292 single base substitution G A intron_variant MELA-AU 2 217216639 217216639 single base substitution C T intron_variant MELA-AU 2 217216724 217216724 single base substitution A T intron_variant MELA-AU 2 217216772 217216772 single base substitution C T intron_variant MELA-AU 2 217216805 217216805 single base substitution G A intron_variant MELA-AU 2 217216852 217216852 single base substitution G A intron_variant MELA-AU 2 217216857 217216857 single base substitution G A intron_variant MELA-AU 2 217217001 217217001 single base substitution T C intron_variant MELA-AU 2 217217109 217217109 single base substitution C T intron_variant MELA-AU 2 217217148 217217148 single base substitution G A intron_variant MELA-AU 2 217217173 217217173 single base substitution G A intron_variant MELA-AU 2 217217229 217217229 single base substitution G A intron_variant MELA-AU 2 217217357 217217357 single base substitution G A intron_variant MELA-AU 2 217217410 217217410 single base substitution G A intron_variant MELA-AU 2 217217500 217217500 single base substitution C T intron_variant MELA-AU 2 217217741 217217741 single base substitution G A intron_variant MELA-AU 2 217217777 217217777 single base substitution C T intron_variant MELA-AU 2 217217965 217217965 single base substitution G A intron_variant MELA-AU 2 217217968 217217968 single base substitution T C intron_variant MELA-AU 2 217218021 217218021 single base substitution C T intron_variant MELA-AU 2 217218119 217218119 single base substitution G A intron_variant MELA-AU 2 217218148 217218148 single base substitution T A intron_variant MELA-AU 2 217218159 217218159 single base substitution G A intron_variant MELA-AU 2 217218276 217218276 single base substitution C T intron_variant MELA-AU 2 217218387 217218387 single base substitution C T intron_variant MELA-AU 2 217218395 217218395 single base substitution T C intron_variant MELA-AU 2 217218594 217218594 single base substitution C T intron_variant MELA-AU 2 217218792 217218792 single base substitution C T intron_variant MELA-AU 2 217218823 217218823 single base substitution C T intron_variant MELA-AU 2 217218969 217218969 single base substitution G A intron_variant MELA-AU 2 217218978 217218978 single base substitution G A intron_variant MELA-AU 2 217219065 217219065 single base substitution C T intron_variant MELA-AU 2 217219105 217219105 single base substitution C T intron_variant MELA-AU 2 217219428 217219428 single base substitution G A intron_variant MELA-AU 2 217219439 217219439 single base substitution C T intron_variant MELA-AU 2 217219465 217219465 single base substitution C T intron_variant MELA-AU 2 217219719 217219719 single base substitution G A intron_variant MELA-AU 2 217219777 217219777 single base substitution C T intron_variant MELA-AU 2 217219818 217219818 single base substitution C T intron_variant MELA-AU 2 217219829 217219829 single base substitution G A intron_variant MELA-AU 2 217219830 217219830 single base substitution G A intron_variant MELA-AU 2 217220028 217220028 single base substitution C A intron_variant MELA-AU 2 217220175 217220175 single base substitution C T intron_variant MELA-AU 2 217220336 217220336 single base substitution C T intron_variant MELA-AU 2 217220473 217220473 single base substitution C T intron_variant MELA-AU 2 217220609 217220609 single base substitution C T intron_variant MELA-AU 2 217220757 217220757 single base substitution G A intron_variant MELA-AU 2 217220811 217220811 single base substitution C T intron_variant MELA-AU 2 217220943 217220943 single base substitution C T intron_variant MELA-AU 2 217221145 217221145 single base substitution C T intron_variant MELA-AU 2 217221369 217221369 single base substitution C T intron_variant MELA-AU 2 217221780 217221780 single base substitution T A intron_variant MELA-AU 2 217221831 217221831 single base substitution C T intron_variant MELA-AU 2 217221857 217221857 single base substitution C A intron_variant MELA-AU 2 217221908 217221908 single base substitution C T intron_variant MELA-AU 2 217222338 217222338 single base substitution C T intron_variant MELA-AU 2 217222449 217222449 single base substitution A G intron_variant MELA-AU 2 217222704 217222704 single base substitution T A intron_variant MELA-AU 2 217222841 217222841 single base substitution C T intron_variant MELA-AU 2 217223041 217223041 single base substitution G A intron_variant MELA-AU 2 217223079 217223079 single base substitution G A intron_variant MELA-AU 2 217223115 217223115 single base substitution C T intron_variant MELA-AU 2 217223399 217223399 single base substitution C T intron_variant MELA-AU 2 217223446 217223446 single base substitution G A intron_variant MELA-AU 2 217223658 217223658 single base substitution G A intron_variant MELA-AU 2 217223745 217223745 single base substitution G A intron_variant MELA-AU 2 217223845 217223845 single base substitution C T intron_variant MELA-AU 2 217223874 217223874 single base substitution C T intron_variant MELA-AU 2 217224089 217224089 single base substitution C T intron_variant MELA-AU 2 217224096 217224096 single base substitution C T intron_variant MELA-AU 2 217224119 217224119 single base substitution C T intron_variant MELA-AU 2 217224184 217224184 single base substitution G A intron_variant MELA-AU 2 217224185 217224185 single base substitution G A intron_variant MELA-AU 2 217224193 217224193 single base substitution C T intron_variant MELA-AU 2 217224644 217224644 single base substitution C T intron_variant MELA-AU 2 217224697 217224697 single base substitution C T intron_variant MELA-AU 2 217224725 217224725 single base substitution T G intron_variant MELA-AU 2 217224744 217224744 single base substitution C T intron_variant MELA-AU 2 217224774 217224774 single base substitution C T intron_variant MELA-AU 2 217224819 217224819 single base substitution C T intron_variant MELA-AU 2 217224836 217224836 single base substitution G A intron_variant MELA-AU 2 217224866 217224866 single base substitution C T intron_variant MELA-AU 2 217224940 217224940 single base substitution C T intron_variant MELA-AU 2 217225314 217225314 single base substitution C T intron_variant MELA-AU 2 217225340 217225340 single base substitution G A intron_variant MELA-AU 2 217225578 217225578 single base substitution C T intron_variant MELA-AU 2 217226301 217226301 single base substitution G A intron_variant MELA-AU 2 217226567 217226567 single base substitution C T intron_variant MELA-AU 2 217226599 217226599 single base substitution G A intron_variant MELA-AU 2 217226725 217226725 single base substitution G A intron_variant MELA-AU 2 217226767 217226767 single base substitution G A intron_variant MELA-AU 2 217226775 217226775 single base substitution C T intron_variant MELA-AU 2 217226849 217226849 single base substitution G A intron_variant MELA-AU 2 217227000 217227000 single base substitution C T intron_variant MELA-AU 2 217227319 217227319 single base substitution G A intron_variant MELA-AU 2 217227436 217227436 single base substitution G A intron_variant MELA-AU 2 217227713 217227713 single base substitution C T intron_variant MELA-AU 2 217227752 217227752 single base substitution C T intron_variant MELA-AU 2 217227813 217227813 single base substitution G A intron_variant MELA-AU 2 217227889 217227889 single base substitution C T intron_variant MELA-AU 2 217228273 217228273 single base substitution A G intron_variant MELA-AU 2 217228374 217228374 single base substitution C T intron_variant MELA-AU 2 217228604 217228604 single base substitution C T intron_variant MELA-AU 2 217228675 217228675 single base substitution C T intron_variant MELA-AU 2 217228766 217228766 single base substitution C T intron_variant MELA-AU 2 217228846 217228846 single base substitution C T intron_variant MELA-AU 2 217228847 217228847 single base substitution C T intron_variant MELA-AU 2 217228866 217228866 single base substitution C T intron_variant MELA-AU 2 217228929 217228929 single base substitution T G intron_variant MELA-AU 2 217228933 217228933 single base substitution C T intron_variant MELA-AU 2 217228972 217228972 single base substitution G A intron_variant MELA-AU 2 217229091 217229091 single base substitution C T intron_variant MELA-AU 2 217229099 217229099 single base substitution C T intron_variant MELA-AU 2 217229102 217229102 single base substitution G T intron_variant MELA-AU 2 217229305 217229305 single base substitution T G intron_variant MELA-AU 2 217229406 217229406 single base substitution G A intron_variant MELA-AU 2 217229442 217229442 single base substitution C T intron_variant MELA-AU 2 217229580 217229580 single base substitution C T intron_variant MELA-AU 2 217229626 217229626 single base substitution G A intron_variant MELA-AU 2 217229745 217229745 single base substitution G A intron_variant MELA-AU 2 217229792 217229792 single base substitution G A intron_variant MELA-AU 2 217229992 217229992 single base substitution G A intron_variant MELA-AU 2 217230188 217230188 single base substitution G A intron_variant MELA-AU 2 217230211 217230211 single base substitution C T intron_variant MELA-AU 2 217230405 217230405 single base substitution T C intron_variant MELA-AU 2 217230494 217230494 single base substitution C T intron_variant MELA-AU 2 217230589 217230589 single base substitution C T intron_variant MELA-AU 2 217230920 217230920 single base substitution C T intron_variant MELA-AU 2 217231001 217231001 single base substitution G A intron_variant MELA-AU 2 217231070 217231070 single base substitution G A intron_variant MELA-AU 2 217231101 217231101 single base substitution T C intron_variant MELA-AU 2 217231477 217231477 single base substitution C T intron_variant MELA-AU 2 217231604 217231604 single base substitution G A intron_variant MELA-AU 2 217231776 217231776 single base substitution G A intron_variant MELA-AU 2 217231854 217231854 single base substitution G A intron_variant MELA-AU 2 217232016 217232016 single base substitution C T intron_variant MELA-AU 2 217232101 217232101 single base substitution C T intron_variant MELA-AU 2 217232111 217232111 single base substitution C T intron_variant MELA-AU 2 217232326 217232326 single base substitution G A intron_variant MELA-AU 2 217232456 217232456 single base substitution G A intron_variant MELA-AU 2 217232603 217232603 single base substitution C T intron_variant MELA-AU 2 217232769 217232769 single base substitution C T intron_variant MELA-AU 2 217232800 217232800 single base substitution G A intron_variant MELA-AU 2 217233041 217233041 single base substitution G A intron_variant MELA-AU 2 217233047 217233047 single base substitution G A intron_variant MELA-AU 2 217233067 217233067 single base substitution G A intron_variant MELA-AU 2 217233454 217233454 single base substitution T C intron_variant MELA-AU 2 217233711 217233712 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 217234066 217234066 single base substitution G A intron_variant MELA-AU 2 217234093 217234093 single base substitution G A intron_variant MELA-AU 2 217234245 217234245 single base substitution G A intron_variant MELA-AU 2 217234271 217234271 single base substitution G A intron_variant MELA-AU 2 217234273 217234274 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 2 217234480 217234480 single base substitution C T synonymous_variant Q168Q 504G>A MELA-AU 2 217234545 217234545 single base substitution G A missense_variant R147C 439C>T MELA-AU 2 217234625 217234625 single base substitution C T missense_variant G120D 359G>A MELA-AU 2 217234657 217234657 single base substitution G A synonymous_variant P109P 327C>T MELA-AU 2 217234710 217234710 single base substitution C T missense_variant G92S 274G>A MELA-AU 2 217234731 217234731 single base substitution C T missense_variant G85R 253G>A MELA-AU 2 217234787 217234787 single base substitution C T missense_variant G66D 197G>A MELA-AU 2 217234879 217234879 single base substitution C T synonymous_variant Q35Q 105G>A MELA-AU 2 217235096 217235096 single base substitution C T 5_prime_UTR_variant MELA-AU 2 217235549 217235549 single base substitution C T 5_prime_UTR_variant MELA-AU 2 217235568 217235568 single base substitution G A 5_prime_UTR_variant MELA-AU 2 217235820 217235820 single base substitution G A 5_prime_UTR_variant MELA-AU 2 217236394 217236394 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 2 217236618 217236618 single base substitution C T 5_prime_UTR_variant MELA-AU 2 217237224 217237224 single base substitution G A upstream_gene_variant MELA-AU 2 217237540 217237540 single base substitution G A upstream_gene_variant MELA-AU 2 217237763 217237763 deletion of <=200bp T - upstream_gene_variant MELA-AU 2 217237893 217237893 single base substitution C T upstream_gene_variant MELA-AU 2 217237937 217237937 single base substitution C T upstream_gene_variant MELA-AU 2 217238247 217238247 single base substitution T G upstream_gene_variant MELA-AU 2 217238530 217238530 single base substitution A C upstream_gene_variant MELA-AU 2 217238618 217238618 single base substitution C T upstream_gene_variant MELA-AU 2 217238710 217238710 single base substitution C T upstream_gene_variant MELA-AU 2 217238742 217238742 single base substitution C T upstream_gene_variant MELA-AU 2 217239164 217239165 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 217239195 217239195 single base substitution C T upstream_gene_variant MELA-AU 2 217239372 217239372 single base substitution G A upstream_gene_variant MELA-AU 2 217239534 217239534 single base substitution G A upstream_gene_variant MELA-AU 2 217239543 217239543 single base substitution C T upstream_gene_variant MELA-AU 2 217239737 217239737 single base substitution C T upstream_gene_variant MELA-AU 2 217239885 217239885 single base substitution G A upstream_gene_variant MELA-AU 2 217239928 217239928 single base substitution G A upstream_gene_variant MELA-AU 2 217239975 217239976 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 217239976 217239976 single base substitution C T upstream_gene_variant MELA-AU 2 217240205 217240205 single base substitution G A upstream_gene_variant MELA-AU 2 217240233 217240233 single base substitution G A upstream_gene_variant MELA-AU 2 217240345 217240345 single base substitution G A upstream_gene_variant MELA-AU 2 217240388 217240388 single base substitution G A upstream_gene_variant MELA-AU 2 217240425 217240425 single base substitution A C upstream_gene_variant MELA-AU 2 217240440 217240440 single base substitution T C upstream_gene_variant MELA-AU 2 217240491 217240491 single base substitution G A upstream_gene_variant MELA-AU 2 217240581 217240581 single base substitution G A upstream_gene_variant MELA-AU 2 217240745 217240745 single base substitution G A upstream_gene_variant MELA-AU 2 217240751 217240751 single base substitution G A upstream_gene_variant MELA-AU 2 217240790 217240790 single base substitution C T upstream_gene_variant MELA-AU 2 217240795 217240795 single base substitution C T upstream_gene_variant MELA-AU 2 217240863 217240863 single base substitution C T upstream_gene_variant MELA-AU 2 217240875 217240875 single base substitution G A upstream_gene_variant MELA-AU 2 217240937 217240937 single base substitution T C upstream_gene_variant MELA-AU 2 217241108 217241108 deletion of <=200bp A - upstream_gene_variant MELA-AU 2 217241130 217241130 single base substitution T C upstream_gene_variant MELA-AU 2 217241457 217241457 single base substitution G A upstream_gene_variant MELA-AU 2 217241468 217241468 single base substitution A G upstream_gene_variant MELA-AU 2 217241657 217241657 single base substitution C T upstream_gene_variant MELA-AU 2 217241730 217241730 single base substitution C T upstream_gene_variant MELA-AU 2 217241747 217241747 single base substitution G A upstream_gene_variant ORCA-IN 2 217125778 217125778 single base substitution G T intron_variant ORCA-IN 2 217125942 217125942 single base substitution G A intron_variant ORCA-IN 2 217126418 217126418 single base substitution G A intron_variant ORCA-IN 2 217127859 217127859 single base substitution A G intron_variant ORCA-IN 2 217130351 217130351 single base substitution G T intron_variant ORCA-IN 2 217136320 217136320 single base substitution G T intron_variant ORCA-IN 2 217145908 217145908 single base substitution C T intron_variant ORCA-IN 2 217165072 217165073 deletion of <=200bp TG - intron_variant OV-AU 2 217118496 217118496 single base substitution G T downstream_gene_variant OV-AU 2 217121047 217121047 single base substitution C A downstream_gene_variant OV-AU 2 217124318 217124318 single base substitution T C missense_variant Y317C 950A>G OV-AU 2 217127775 217127775 single base substitution A T intron_variant OV-AU 2 217127776 217127776 single base substitution G T intron_variant OV-AU 2 217131298 217131298 single base substitution C A intron_variant OV-AU 2 217134573 217134573 single base substitution C A intron_variant OV-AU 2 217139183 217139183 single base substitution G A intron_variant OV-AU 2 217142329 217142329 single base substitution A G intron_variant OV-AU 2 217142482 217142482 single base substitution A G missense_variant F260L 778T>C OV-AU 2 217142697 217142697 single base substitution C A intron_variant OV-AU 2 217143094 217143094 single base substitution C T intron_variant OV-AU 2 217144335 217144335 single base substitution T C intron_variant OV-AU 2 217146635 217146635 single base substitution C A intron_variant OV-AU 2 217149417 217149417 single base substitution G A intron_variant OV-AU 2 217150379 217150379 single base substitution G A intron_variant OV-AU 2 217150483 217150483 single base substitution G A intron_variant OV-AU 2 217150484 217150484 single base substitution C T intron_variant OV-AU 2 217151128 217151128 single base substitution G T intron_variant OV-AU 2 217154913 217154913 single base substitution G A intron_variant OV-AU 2 217155661 217155661 single base substitution C A intron_variant OV-AU 2 217159762 217159762 single base substitution C G intron_variant OV-AU 2 217168316 217168316 single base substitution G A intron_variant OV-AU 2 217175239 217175239 single base substitution C A intron_variant OV-AU 2 217178264 217178264 single base substitution G C intron_variant OV-AU 2 217179729 217179729 single base substitution C A intron_variant OV-AU 2 217185638 217185638 single base substitution G A intron_variant OV-AU 2 217186600 217186600 single base substitution A G intron_variant OV-AU 2 217189511 217189511 single base substitution T C intron_variant OV-AU 2 217195283 217195283 single base substitution G C intron_variant OV-AU 2 217196601 217196601 single base substitution T C intron_variant OV-AU 2 217201526 217201526 single base substitution A T intron_variant OV-AU 2 217203431 217203431 single base substitution T C intron_variant OV-AU 2 217209075 217209075 single base substitution C A intron_variant OV-AU 2 217211993 217211993 single base substitution C A intron_variant OV-AU 2 217219849 217219849 single base substitution C G intron_variant OV-AU 2 217222149 217222149 single base substitution T C intron_variant OV-AU 2 217222160 217222160 single base substitution C G intron_variant OV-AU 2 217241529 217241529 single base substitution T A upstream_gene_variant PACA-AU 2 217120347 217120347 single base substitution C T downstream_gene_variant PACA-AU 2 217122624 217122624 single base substitution A T 3_prime_UTR_variant PACA-AU 2 217133061 217133061 single base substitution C A intron_variant PACA-AU 2 217145129 217145129 single base substitution C T intron_variant PACA-AU 2 217148298 217148298 single base substitution T G missense_variant Q224P 671A>C PACA-AU 2 217148455 217148455 single base substitution G A splice_region_variant PACA-AU 2 217151255 217151255 single base substitution A G intron_variant PACA-AU 2 217153527 217153527 single base substitution C A intron_variant PACA-AU 2 217153542 217153542 single base substitution C A intron_variant PACA-AU 2 217155777 217155777 single base substitution G C intron_variant PACA-AU 2 217160608 217160608 single base substitution C T intron_variant PACA-AU 2 217161120 217161120 single base substitution G A intron_variant PACA-AU 2 217161172 217161172 deletion of <=200bp A - intron_variant PACA-AU 2 217163167 217163167 single base substitution T G intron_variant PACA-AU 2 217165070 217165073 deletion of <=200bp TATG - intron_variant PACA-AU 2 217167942 217167942 single base substitution C T intron_variant PACA-AU 2 217169401 217169401 single base substitution C T intron_variant PACA-AU 2 217169587 217169587 single base substitution G A intron_variant PACA-AU 2 217172548 217172548 single base substitution G A intron_variant PACA-AU 2 217173033 217173033 single base substitution C T intron_variant PACA-AU 2 217175564 217175564 single base substitution C A intron_variant PACA-AU 2 217178014 217178014 single base substitution C T intron_variant PACA-AU 2 217178202 217178202 single base substitution G T intron_variant PACA-AU 2 217180131 217180131 single base substitution G T intron_variant PACA-AU 2 217183187 217183187 single base substitution A T intron_variant PACA-AU 2 217184107 217184107 single base substitution C T intron_variant PACA-AU 2 217185402 217185402 single base substitution T C intron_variant PACA-AU 2 217187863 217187863 single base substitution T C intron_variant PACA-AU 2 217192823 217192823 single base substitution A G intron_variant PACA-AU 2 217192903 217192903 single base substitution G T intron_variant PACA-AU 2 217193798 217193798 single base substitution G A intron_variant PACA-AU 2 217194208 217194208 single base substitution A C intron_variant PACA-AU 2 217194235 217194235 single base substitution C T intron_variant PACA-AU 2 217197060 217197060 single base substitution C T intron_variant PACA-AU 2 217199034 217199034 single base substitution T G intron_variant PACA-AU 2 217200448 217200448 single base substitution A G intron_variant PACA-AU 2 217202345 217202345 single base substitution C T intron_variant PACA-AU 2 217206635 217206635 single base substitution C T intron_variant PACA-AU 2 217218882 217218882 single base substitution G C intron_variant PACA-AU 2 217219298 217219337 deletion of <=200bp GGCCTGACACCCAGTGGTGTTCACTCAACCTGTACTGAGT - intron_variant PACA-AU 2 217220137 217220137 single base substitution G A intron_variant PACA-AU 2 217220690 217220690 single base substitution A C intron_variant PACA-AU 2 217225780 217225780 single base substitution C T intron_variant PACA-AU 2 217226425 217226425 single base substitution T G intron_variant PACA-AU 2 217227681 217227681 single base substitution C G intron_variant PACA-AU 2 217229487 217229487 single base substitution G A intron_variant PACA-AU 2 217230025 217230025 single base substitution A G intron_variant PACA-AU 2 217231794 217231794 deletion of <=200bp T - intron_variant PACA-AU 2 217236212 217236212 single base substitution C T 5_prime_UTR_variant PACA-AU 2 217239460 217239460 single base substitution A G upstream_gene_variant PACA-CA 2 217118008 217118008 single base substitution G A downstream_gene_variant PACA-CA 2 217119143 217119143 single base substitution A T downstream_gene_variant PACA-CA 2 217119902 217119902 single base substitution G T downstream_gene_variant PACA-CA 2 217120342 217120342 single base substitution T C downstream_gene_variant PACA-CA 2 217123562 217123562 single base substitution C G 3_prime_UTR_variant PACA-CA 2 217126808 217126808 deletion of <=200bp T - intron_variant PACA-CA 2 217126905 217126905 single base substitution G A intron_variant PACA-CA 2 217126973 217126973 single base substitution G C intron_variant PACA-CA 2 217128047 217128047 single base substitution G T intron_variant PACA-CA 2 217128692 217128692 single base substitution G A intron_variant PACA-CA 2 217130337 217130337 single base substitution C T intron_variant PACA-CA 2 217133573 217133573 single base substitution G T intron_variant PACA-CA 2 217135513 217135513 single base substitution G T intron_variant PACA-CA 2 217135538 217135538 single base substitution C T intron_variant PACA-CA 2 217136019 217136019 single base substitution T C intron_variant PACA-CA 2 217136196 217136196 single base substitution C A intron_variant PACA-CA 2 217136507 217136507 single base substitution C A intron_variant PACA-CA 2 217136651 217136651 single base substitution C A intron_variant PACA-CA 2 217138739 217138739 single base substitution C A intron_variant PACA-CA 2 217140549 217140549 single base substitution C A intron_variant PACA-CA 2 217140646 217140646 single base substitution C T intron_variant PACA-CA 2 217141974 217141974 single base substitution G T intron_variant PACA-CA 2 217143946 217143946 single base substitution G T intron_variant PACA-CA 2 217144952 217144952 single base substitution C A intron_variant PACA-CA 2 217149224 217149224 single base substitution T C intron_variant PACA-CA 2 217160690 217160690 single base substitution G A intron_variant PACA-CA 2 217161828 217161828 single base substitution G A intron_variant PACA-CA 2 217162195 217162195 single base substitution G A intron_variant PACA-CA 2 217164719 217164719 single base substitution C T intron_variant PACA-CA 2 217165609 217165609 single base substitution C A intron_variant PACA-CA 2 217165798 217165798 single base substitution C A intron_variant PACA-CA 2 217171106 217171106 single base substitution G A intron_variant PACA-CA 2 217171447 217171447 single base substitution C T intron_variant PACA-CA 2 217171565 217171565 deletion of <=200bp T - intron_variant PACA-CA 2 217171701 217171701 single base substitution T A intron_variant PACA-CA 2 217172056 217172056 deletion of <=200bp T - intron_variant PACA-CA 2 217173093 217173093 single base substitution C T intron_variant PACA-CA 2 217174040 217174040 single base substitution A T intron_variant PACA-CA 2 217174943 217174943 single base substitution C T intron_variant PACA-CA 2 217176454 217176454 single base substitution G A intron_variant PACA-CA 2 217178662 217178662 single base substitution T G intron_variant PACA-CA 2 217184600 217184600 single base substitution G T intron_variant PACA-CA 2 217186302 217186302 single base substitution C A intron_variant PACA-CA 2 217186619 217186619 single base substitution G A intron_variant PACA-CA 2 217187035 217187035 single base substitution A G intron_variant PACA-CA 2 217187230 217187230 single base substitution A G intron_variant PACA-CA 2 217188185 217188185 single base substitution C T intron_variant PACA-CA 2 217191690 217191690 single base substitution A T intron_variant PACA-CA 2 217193973 217193973 single base substitution G A intron_variant PACA-CA 2 217194446 217194446 single base substitution C T intron_variant PACA-CA 2 217194731 217194731 single base substitution A G intron_variant PACA-CA 2 217195452 217195452 single base substitution G A intron_variant PACA-CA 2 217199146 217199146 single base substitution T G intron_variant PACA-CA 2 217199163 217199163 single base substitution G T intron_variant PACA-CA 2 217200128 217200128 single base substitution A C intron_variant PACA-CA 2 217202398 217202398 single base substitution C T intron_variant PACA-CA 2 217203155 217203155 single base substitution G A intron_variant PACA-CA 2 217205718 217205718 single base substitution G A intron_variant PACA-CA 2 217208100 217208100 single base substitution A C intron_variant PACA-CA 2 217212307 217212307 single base substitution C A intron_variant PACA-CA 2 217217259 217217259 single base substitution T A intron_variant PACA-CA 2 217217420 217217420 single base substitution G A intron_variant PACA-CA 2 217219645 217219645 single base substitution T C intron_variant PACA-CA 2 217219653 217219653 single base substitution T C intron_variant PACA-CA 2 217219809 217219809 single base substitution C T intron_variant PACA-CA 2 217220871 217220871 single base substitution C T intron_variant PACA-CA 2 217221082 217221082 single base substitution C T intron_variant PACA-CA 2 217225155 217225155 single base substitution G A intron_variant PACA-CA 2 217225618 217225618 single base substitution G A intron_variant PACA-CA 2 217229620 217229620 single base substitution G C intron_variant PACA-CA 2 217232667 217232667 deletion of <=200bp G - intron_variant PACA-CA 2 217232699 217232699 single base substitution G A intron_variant PACA-CA 2 217234735 217234735 single base substitution G A synonymous_variant G83G 249C>T PACA-CA 2 217234789 217234789 single base substitution G A synonymous_variant H65H 195C>T PACA-CA 2 217234886 217234886 single base substitution C T missense_variant R33H 98G>A PACA-CA 2 217237989 217237989 single base substitution G A upstream_gene_variant PACA-CA 2 217238265 217238265 single base substitution T A upstream_gene_variant PACA-CA 2 217240298 217240298 single base substitution G C upstream_gene_variant PAEN-AU 2 217156703 217156703 single base substitution C A intron_variant PAEN-AU 2 217160458 217160458 single base substitution G T intron_variant PAEN-AU 2 217165071 217165071 single base substitution A G intron_variant PAEN-AU 2 217196733 217196733 single base substitution A C intron_variant PAEN-IT 2 217149114 217149114 single base substitution C T intron_variant PAEN-IT 2 217239462 217239462 single base substitution A G upstream_gene_variant PBCA-DE 2 217128180 217128180 single base substitution G A intron_variant PBCA-DE 2 217147825 217147825 single base substitution C A intron_variant PBCA-DE 2 217152015 217152015 single base substitution T C intron_variant PBCA-DE 2 217162194 217162194 single base substitution C T intron_variant PBCA-DE 2 217163728 217163728 single base substitution C G intron_variant PBCA-DE 2 217169062 217169062 single base substitution T G intron_variant PBCA-DE 2 217178531 217178531 single base substitution C T intron_variant PBCA-DE 2 217186519 217186519 single base substitution G T intron_variant PBCA-DE 2 217186819 217186820 deletion of <=200bp TG - intron_variant PBCA-DE 2 217194091 217194091 single base substitution G A intron_variant PBCA-DE 2 217202148 217202148 insertion of <=200bp - A intron_variant PBCA-DE 2 217236606 217236606 single base substitution A C 5_prime_UTR_variant PRAD-CA 2 217135394 217135394 single base substitution C T intron_variant PRAD-CA 2 217151001 217151001 single base substitution G A intron_variant PRAD-CA 2 217187480 217187480 single base substitution G A intron_variant PRAD-CA 2 217200988 217200988 single base substitution A G intron_variant PRAD-CA 2 217219650 217219650 single base substitution C G intron_variant PRAD-UK 2 217118417 217118417 single base substitution G T downstream_gene_variant PRAD-UK 2 217119535 217119535 single base substitution C A downstream_gene_variant PRAD-UK 2 217139031 217139031 single base substitution G T intron_variant PRAD-UK 2 217177189 217177189 single base substitution T A intron_variant PRAD-UK 2 217179652 217179652 single base substitution A T intron_variant PRAD-UK 2 217180707 217180707 single base substitution G C intron_variant PRAD-UK 2 217186493 217186493 single base substitution C T intron_variant PRAD-UK 2 217212382 217212382 single base substitution G A intron_variant PRAD-UK 2 217213622 217213622 deletion of <=200bp T - intron_variant PRAD-UK 2 217219015 217219015 single base substitution G T intron_variant PRAD-UK 2 217225580 217225580 single base substitution T C intron_variant PRAD-UK 2 217225733 217225733 single base substitution G T intron_variant PRAD-UK 2 217234246 217234246 single base substitution A G intron_variant PRAD-UK 2 217235041 217235041 single base substitution C T 5_prime_UTR_variant RECA-EU 2 217124044 217124044 single base substitution C T synonymous_variant T408T 1224G>A RECA-EU 2 217128038 217128038 single base substitution T A intron_variant RECA-EU 2 217131100 217131100 single base substitution G C intron_variant RECA-EU 2 217131715 217131715 single base substitution T A intron_variant RECA-EU 2 217134209 217134209 single base substitution T C intron_variant RECA-EU 2 217136294 217136294 single base substitution C T intron_variant RECA-EU 2 217143105 217143105 single base substitution C T intron_variant RECA-EU 2 217149782 217149782 single base substitution A T intron_variant RECA-EU 2 217151144 217151144 single base substitution G A intron_variant RECA-EU 2 217170514 217170514 single base substitution C A intron_variant RECA-EU 2 217180923 217180923 single base substitution C G intron_variant RECA-EU 2 217185398 217185398 single base substitution C T intron_variant RECA-EU 2 217194900 217194900 single base substitution A C intron_variant RECA-EU 2 217195256 217195256 single base substitution A T intron_variant RECA-EU 2 217196430 217196430 single base substitution A C intron_variant RECA-EU 2 217196461 217196461 single base substitution C T intron_variant RECA-EU 2 217201763 217201763 single base substitution T C intron_variant RECA-EU 2 217202455 217202455 single base substitution T A intron_variant RECA-EU 2 217202668 217202668 single base substitution T G intron_variant RECA-EU 2 217208213 217208213 single base substitution A G intron_variant RECA-EU 2 217218172 217218172 single base substitution T G intron_variant RECA-EU 2 217233545 217233545 single base substitution T A intron_variant RECA-EU 2 217233547 217233547 single base substitution T G intron_variant RECA-EU 2 217238006 217238006 single base substitution T A upstream_gene_variant SKCA-BR 2 217117955 217117955 single base substitution G A downstream_gene_variant SKCA-BR 2 217118308 217118308 single base substitution G A downstream_gene_variant SKCA-BR 2 217118821 217118821 single base substitution C T downstream_gene_variant SKCA-BR 2 217119252 217119252 single base substitution G A downstream_gene_variant SKCA-BR 2 217120640 217120640 single base substitution C T downstream_gene_variant SKCA-BR 2 217120979 217120979 single base substitution C T downstream_gene_variant SKCA-BR 2 217121895 217121895 single base substitution T C downstream_gene_variant SKCA-BR 2 217122709 217122709 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 217124677 217124677 single base substitution C T intron_variant SKCA-BR 2 217125314 217125314 single base substitution A G intron_variant SKCA-BR 2 217126643 217126643 single base substitution C A intron_variant SKCA-BR 2 217128232 217128232 insertion of <=200bp - GAGAA intron_variant SKCA-BR 2 217128518 217128518 single base substitution G A intron_variant SKCA-BR 2 217133165 217133165 single base substitution C T intron_variant SKCA-BR 2 217133178 217133178 single base substitution C T intron_variant SKCA-BR 2 217133524 217133524 single base substitution A T intron_variant SKCA-BR 2 217135882 217135882 single base substitution G A intron_variant SKCA-BR 2 217137179 217137179 single base substitution C T intron_variant SKCA-BR 2 217138370 217138370 single base substitution G A intron_variant SKCA-BR 2 217138426 217138426 single base substitution G A intron_variant SKCA-BR 2 217138541 217138541 single base substitution C T intron_variant SKCA-BR 2 217138935 217138935 single base substitution G A intron_variant SKCA-BR 2 217139163 217139163 single base substitution C T intron_variant SKCA-BR 2 217141296 217141296 single base substitution C T intron_variant SKCA-BR 2 217141694 217141694 insertion of <=200bp - AT intron_variant SKCA-BR 2 217144066 217144066 single base substitution G A intron_variant SKCA-BR 2 217147634 217147634 single base substitution C T intron_variant SKCA-BR 2 217148502 217148502 single base substitution T G intron_variant SKCA-BR 2 217148525 217148525 single base substitution T G intron_variant SKCA-BR 2 217150497 217150497 single base substitution G A intron_variant SKCA-BR 2 217153959 217153960 deletion of <=200bp CG - intron_variant SKCA-BR 2 217154437 217154437 single base substitution T C intron_variant SKCA-BR 2 217155979 217155979 single base substitution G A intron_variant SKCA-BR 2 217156712 217156712 single base substitution C T intron_variant SKCA-BR 2 217158293 217158295 deletion of <=200bp TAA - intron_variant SKCA-BR 2 217158413 217158413 single base substitution C T intron_variant SKCA-BR 2 217159035 217159035 single base substitution G A intron_variant SKCA-BR 2 217159945 217159945 single base substitution G A intron_variant SKCA-BR 2 217161096 217161096 single base substitution A C intron_variant SKCA-BR 2 217161656 217161656 single base substitution C T intron_variant SKCA-BR 2 217163364 217163364 single base substitution G A intron_variant SKCA-BR 2 217165339 217165339 single base substitution G A intron_variant SKCA-BR 2 217165391 217165391 single base substitution A T intron_variant SKCA-BR 2 217167040 217167040 single base substitution C T intron_variant SKCA-BR 2 217167108 217167110 deletion of <=200bp ATT - intron_variant SKCA-BR 2 217167127 217167127 single base substitution A T intron_variant SKCA-BR 2 217167191 217167191 single base substitution T C intron_variant SKCA-BR 2 217167293 217167293 single base substitution G A intron_variant SKCA-BR 2 217168056 217168056 single base substitution C T intron_variant SKCA-BR 2 217168732 217168732 single base substitution G A intron_variant SKCA-BR 2 217170699 217170699 single base substitution C T intron_variant SKCA-BR 2 217171946 217171946 single base substitution C T intron_variant SKCA-BR 2 217174234 217174234 single base substitution C T intron_variant SKCA-BR 2 217175350 217175350 single base substitution G T intron_variant SKCA-BR 2 217176056 217176056 single base substitution C T intron_variant SKCA-BR 2 217177540 217177540 single base substitution C T intron_variant SKCA-BR 2 217177596 217177596 single base substitution C T intron_variant SKCA-BR 2 217180662 217180662 single base substitution C T intron_variant SKCA-BR 2 217181729 217181729 single base substitution G A intron_variant SKCA-BR 2 217183945 217183945 single base substitution C T intron_variant SKCA-BR 2 217184372 217184372 single base substitution T G intron_variant SKCA-BR 2 217184492 217184492 single base substitution G A intron_variant SKCA-BR 2 217187543 217187543 single base substitution G A intron_variant SKCA-BR 2 217187929 217187929 single base substitution C A intron_variant SKCA-BR 2 217188361 217188361 single base substitution T C intron_variant SKCA-BR 2 217188548 217188548 single base substitution G A intron_variant SKCA-BR 2 217188702 217188702 single base substitution G A intron_variant SKCA-BR 2 217188739 217188739 single base substitution G A intron_variant SKCA-BR 2 217189458 217189458 single base substitution T C intron_variant SKCA-BR 2 217190178 217190178 single base substitution G A intron_variant SKCA-BR 2 217190540 217190540 single base substitution G C intron_variant SKCA-BR 2 217190721 217190721 single base substitution G A intron_variant SKCA-BR 2 217191127 217191127 single base substitution C G intron_variant SKCA-BR 2 217192615 217192615 single base substitution C T intron_variant SKCA-BR 2 217193735 217193735 single base substitution G A intron_variant SKCA-BR 2 217194616 217194616 single base substitution C T intron_variant SKCA-BR 2 217194736 217194736 single base substitution C T intron_variant SKCA-BR 2 217194874 217194874 single base substitution G A intron_variant SKCA-BR 2 217195687 217195687 single base substitution G A intron_variant SKCA-BR 2 217195832 217195832 single base substitution G A intron_variant SKCA-BR 2 217197181 217197181 single base substitution T C intron_variant SKCA-BR 2 217198724 217198724 single base substitution G A intron_variant SKCA-BR 2 217198728 217198728 single base substitution G A intron_variant SKCA-BR 2 217198775 217198775 single base substitution G A intron_variant SKCA-BR 2 217201465 217201465 single base substitution T A intron_variant SKCA-BR 2 217203067 217203067 single base substitution C T intron_variant SKCA-BR 2 217203529 217203529 single base substitution C T intron_variant SKCA-BR 2 217204283 217204283 single base substitution A C intron_variant SKCA-BR 2 217206483 217206483 single base substitution C T intron_variant SKCA-BR 2 217207449 217207449 single base substitution G A intron_variant SKCA-BR 2 217207792 217207792 single base substitution G A intron_variant SKCA-BR 2 217208003 217208003 single base substitution C T intron_variant SKCA-BR 2 217208148 217208148 single base substitution G A intron_variant SKCA-BR 2 217208967 217208967 insertion of <=200bp - GAAAC intron_variant SKCA-BR 2 217209716 217209716 single base substitution G A intron_variant SKCA-BR 2 217213369 217213369 single base substitution G A intron_variant SKCA-BR 2 217214116 217214116 single base substitution G A intron_variant SKCA-BR 2 217214752 217214752 single base substitution A T intron_variant SKCA-BR 2 217214761 217214761 single base substitution A C intron_variant SKCA-BR 2 217216183 217216183 single base substitution C T intron_variant SKCA-BR 2 217218190 217218190 single base substitution C T intron_variant SKCA-BR 2 217218287 217218287 single base substitution C T intron_variant SKCA-BR 2 217218597 217218597 single base substitution G A intron_variant SKCA-BR 2 217219633 217219633 insertion of <=200bp - TCTTTCTTC intron_variant SKCA-BR 2 217219641 217219641 single base substitution T C intron_variant SKCA-BR 2 217219645 217219645 single base substitution T C intron_variant SKCA-BR 2 217220484 217220484 single base substitution C T intron_variant SKCA-BR 2 217220615 217220615 single base substitution C T intron_variant SKCA-BR 2 217220663 217220663 single base substitution A C intron_variant SKCA-BR 2 217221317 217221317 single base substitution C T intron_variant SKCA-BR 2 217221681 217221681 single base substitution G A intron_variant SKCA-BR 2 217223750 217223750 single base substitution T A intron_variant SKCA-BR 2 217224272 217224272 single base substitution C T intron_variant SKCA-BR 2 217224431 217224431 single base substitution C T intron_variant SKCA-BR 2 217225109 217225109 single base substitution G A intron_variant SKCA-BR 2 217225229 217225229 single base substitution G A intron_variant SKCA-BR 2 217226483 217226483 single base substitution G A intron_variant SKCA-BR 2 217227160 217227160 single base substitution G A intron_variant SKCA-BR 2 217227547 217227547 single base substitution C T intron_variant SKCA-BR 2 217228443 217228443 single base substitution C T intron_variant SKCA-BR 2 217230100 217230100 single base substitution G A intron_variant SKCA-BR 2 217230896 217230896 single base substitution G A intron_variant SKCA-BR 2 217231461 217231461 single base substitution C T intron_variant SKCA-BR 2 217231939 217231939 single base substitution C T intron_variant SKCA-BR 2 217233198 217233198 single base substitution C T intron_variant SKCA-BR 2 217234439 217234439 single base substitution G A intron_variant SKCA-BR 2 217234763 217234763 single base substitution G A missense_variant A74V 221C>T SKCA-BR 2 217235084 217235084 single base substitution G A 5_prime_UTR_variant SKCA-BR 2 217236131 217236131 single base substitution C T 5_prime_UTR_variant SKCA-BR 2 217237178 217237178 single base substitution G A upstream_gene_variant SKCA-BR 2 217238259 217238267 deletion of <=200bp TCTCTCTCA - upstream_gene_variant SKCA-BR 2 217239445 217239449 deletion of <=200bp CAAAA - upstream_gene_variant SKCA-BR 2 217239504 217239504 single base substitution G A upstream_gene_variant SKCA-BR 2 217239928 217239928 single base substitution G A upstream_gene_variant SKCA-BR 2 217241151 217241151 single base substitution T C upstream_gene_variant SKCA-BR 2 217241160 217241160 single base substitution A T upstream_gene_variant SKCM-US 2 217124116 217124116 single base substitution G A synonymous_variant I384I 1152C>T SKCM-US 2 217124188 217124188 single base substitution G A synonymous_variant G360G 1080C>T SKCM-US 2 217124258 217124258 single base substitution G A missense_variant S337F 1010C>T SKCM-US 2 217124264 217124264 single base substitution C T missense_variant R335Q 1004G>A SKCM-US 2 217124388 217124388 single base substitution C T missense_variant E294K 880G>A SKCM-US 2 217124391 217124391 single base substitution G A missense_variant H293Y 877C>T SKCM-US 2 217142440 217142440 single base substitution G T missense_variant Q274K 820C>A SKCM-US 2 217142513 217142513 single base substitution G A synonymous_variant I249I 747C>T SKCM-US 2 217142558 217142558 single base substitution C T synonymous_variant E234E 702G>A SKCM-US 2 217148305 217148305 single base substitution G A missense_variant P222S 664C>T SKCM-US 2 217234482 217234482 single base substitution G A stop_gained Q168* 502C>T SKCM-US 2 217234548 217234548 single base substitution C T missense_variant D146N 436G>A STAD-US 2 217142429 217142429 single base substitution G A synonymous_variant Y277Y 831C>T STAD-US 2 217142568 217142568 single base substitution G A missense_variant T231M 692C>T STAD-US 2 217234856 217234856 single base substitution C T missense_variant R43H 128G>A STAD-US 2 217234942 217234942 single base substitution G C missense_variant C14W 42C>G UCEC-US 2 217124292 217124292 single base substitution G T missense_variant Q326K 976C>A UCEC-US 2 217142395 217142395 single base substitution C A missense_variant G289C 865G>T UCEC-US 2 217142543 217142543 single base substitution T C synonymous_variant A239A 717A>G UCEC-US 2 217148316 217148316 single base substitution C T missense_variant S218N 653G>A UCEC-US 2 217234573 217234573 single base substitution A G synonymous_variant D137D 411T>C UCEC-US 2 217234902 217234902 single base substitution C T missense_variant A28T 82G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A051-01 COSM1016223 c.865G>T p.G289C Substitution - Missense 2:216277672-216277672 - TCGA-32-1977-01 COSM2717640 c.128G>A p.R43H Substitution - Missense 2:216370133-216370133 - PCSI_0024_Pa_X COSM1214561 c.98G>A p.R33H Substitution - Missense 2:216370163-216370163 - sysucc-771T COSM5446752 c.1096G>A p.G366S Substitution - Missense 2:216259449-216259449 - TCGA-DD-A73C-01 COSM4916627 c.1041G>A p.S347S Substitution - coding silent 2:216259504-216259504 - TCGA-23-1809-01 COSM1326433 c.516G>C p.Q172H Substitution - Missense 2:216369745-216369745 - TCGA-HU-A4HD-01 COSM4091323 c.692C>T p.T231M Substitution - Missense 2:216277845-216277845 - CSCC-27-T COSM4522824 c.1181G>A p.R394Q Substitution - Missense 2:216259364-216259364 - DN1401F COSM5960846 c.873C>G p.I291M Substitution - Missense 2:216259672-216259672 - TCGA-D9-A1JX-06 COSM3577571 c.436G>A p.D146N Substitution - Missense 2:216369825-216369825 - SW48 COSM2717639 c.144C>T p.D48D Substitution - coding silent 2:216370117-216370117 - NCI-H727 COSM5368350 c.211C>A p.P71T Substitution - Missense 2:216370050-216370050 - TCGA-AZ-6598-01 COSM1405374 c.364C>T p.P122S Substitution - Missense 2:216369897-216369897 - 35M COSM5581620 c.308C>T p.P103L Substitution - Missense 2:216369953-216369953 - MT-198-T2 COSM5651341 c.327C>T p.P109P Substitution - coding silent 2:216369934-216369934 - Gp5D COSM2717629 c.465C>T p.D155D Substitution - coding silent 2:216369796-216369796 - CSCC-19-T COSM4539625 c.270G>A p.W90* Substitution - Nonsense 2:216369991-216369991 - TCGA-EE-A3AF-06 COSM3577566 c.1152C>T p.I384I Substitution - coding silent 2:216259393-216259393 - TCGA-AZ-4615-01 COSM3695259 c.167G>A p.R56H Substitution - Missense 2:216370094-216370094 - TCGA-EE-A3AE-06 COSM3909575 c.702G>A p.E234E Substitution - coding silent 2:216277835-216277835 - CSCC-55-T COSM4549059 c.463G>A p.D155N Substitution - Missense 2:216369798-216369798 - 2492720 COSM5723641 c.281G>A p.R94Q Substitution - Missense 2:216369980-216369980 - Au4 COSM5604048 c.936G>A p.W312* Substitution - Nonsense 2:216259609-216259609 - TCGA-F4-6569-01 COSM1405373 c.490C>T p.R164C Substitution - Missense 2:216369771-216369771 - TCGA-FW-A3R5-06 COSM3909573 c.1010C>T p.S337F Substitution - Missense 2:216259535-216259535 - TCGA-A6-5661-01 COSM1405369 c.1139C>A p.T380N Substitution - Missense 2:216259406-216259406 - CSCC-49-T COSM4487511 c.319C>T p.P107S Substitution - Missense 2:216369942-216369942 - TCGA-ER-A19W-06 COSM4399097 c.880G>A p.E294K Substitution - Missense 2:216259665-216259665 - CHC1717T COSM4802067 c.940G>T p.V314L Substitution - Missense 2:216259605-216259605 - 49M COSM4822680 c.338C>T p.S113F Substitution - Missense 2:216369923-216369923 - TCGA-D7-8576-01 COSM209985 c.831C>T p.Y277Y Substitution - coding silent 2:216277706-216277706 - T2944 COSM4700689 c.440G>A p.R147H Substitution - Missense 2:216369821-216369821 - PCSI_0624_Pa_P_526 COSM442293 c.249C>T p.G83G Substitution - coding silent 2:216370012-216370012 - 134430 COSM325766 c.490C>A p.R164S Substitution - Missense 2:216369771-216369771 - TCGA-61-1899-01 COSM1326435 c.1135T>C p.Y379H Substitution - Missense 2:216259410-216259410 - LUAD-B00859 COSM332407 c.1164G>C p.L388F Substitution - Missense 2:216259381-216259381 - TCGA-DD-A39Z-01 COSM4915944 c.1058G>A p.G353D Substitution - Missense 2:216259487-216259487 - 2492724 COSM3577569 c.747C>T p.I249I Substitution - coding silent 2:216277790-216277790 - CSCC-56-T COSM4473128 c.182C>T p.P61L Substitution - Missense 2:216370079-216370079 - TCGA-09-1672-01 COSM1326434 c.748G>A p.A250T Substitution - Missense 2:216277789-216277789 - TCGA-BS-A0UJ-01 COSM1016224 c.717A>G p.A239A Substitution - coding silent 2:216277820-216277820 - CRC-15T COSM5468620 c.722C>A p.A241D Substitution - Missense 2:216277815-216277815 - 2492701 COSM5599898 c.939A>T p.K313N Substitution - Missense 2:216259606-216259606 - 2492701 COSM5599899 c.766A>T p.I256F Substitution - Missense 2:216277771-216277771 - sysucc-274T COSM5476309 c.126C>T p.C42C Substitution - coding silent 2:216370135-216370135 - TCGA-D3-A51R-06 COSM3577570 c.664C>T p.P222S Substitution - Missense 2:216283582-216283582 - TCGA-BR-4280-01 COSM4091324 c.42C>G p.C14W Substitution - Missense 2:216370219-216370219 - TCGA-EK-A2R8-01 COSM4822680 c.338C>T p.S113F Substitution - Missense 2:216369923-216369923 - TCGA-FW-A3R5-06 COSM3909574 c.1004G>A p.R335Q Substitution - Missense 2:216259541-216259541 - LAU108 COSM234962 c.1125C>T p.H375H Substitution - coding silent 2:216259420-216259420 - BD72T COSM5511836 c.910C>T p.R304W Substitution - Missense 2:216259635-216259635 - CRC-04T COSM5468450 c.213C>G p.P71P Substitution - coding silent 2:216370048-216370048 - TCGA-UB-A7MB-01 COSM4931435 c.1004G>T p.R335L Substitution - Missense 2:216259541-216259541 - ESCC-D8 COSM5046471 c.1201C>T p.R401* Substitution - Nonsense 2:216259344-216259344 - TCGA-AA-A010-01 COSM282671 c.804C>T p.R268R Substitution - coding silent 2:216277733-216277733 - 2334193 COSM321589 c.1103C>A p.P368H Substitution - Missense 2:216259442-216259442 - LUAD-CHTN-MAD06-00668 COSM359634 c.852C>A p.D284E Substitution - Missense 2:216277685-216277685 - PA285 COSM1163235 c.646G>A p.A216T Substitution - Missense 2:216283600-216283600 - TCGA-AD-6964-01 COSM1405371 c.544G>T p.D182Y Substitution - Missense 2:216283702-216283702 - PT38 COSM5922174 c.865G>A p.G289S Substitution - Missense 2:216277672-216277672 - 2492703 COSM5599898 c.939A>T p.K313N Substitution - Missense 2:216259606-216259606 - 2492723 COSM5723641 c.281G>A p.R94Q Substitution - Missense 2:216369980-216369980 - sysucc-1838T COSM1743757 c.164G>A p.R55Q Substitution - Missense 2:216370097-216370097 - LUAD-S01357 COSM387214 c.1045G>A p.E349K Substitution - Missense 2:216259500-216259500 - LUAD-NYU739 COSM376285 c.122G>T p.R41L Substitution - Missense 2:216370139-216370139 - TCGA-EB-A3Y7-01 COSM3577570 c.664C>T p.P222S Substitution - Missense 2:216283582-216283582 - SJOS004_D COSM5024233 c.407C>G p.S136* Substitution - Nonsense 2:216369854-216369854 - 8044436 COSM3391460 c.671A>C p.Q224P Substitution - Missense 2:216283575-216283575 - pfg182T COSM4764588 c.1097G>T p.G366V Substitution - Missense 2:216259448-216259448 - TCGA-EA-A44S-01 COSM4822041 c.780C>T p.F260F Substitution - coding silent 2:216277757-216277757 - LS174T COSM2717640 c.128G>A p.R43H Substitution - Missense 2:216370133-216370133 - PCSI_0058_Pa_X COSM3380032 c.195C>T p.H65H Substitution - coding silent 2:216370066-216370066 - BD150T COSM5500924 c.1109G>A p.G370D Substitution - Missense 2:216259436-216259436 - TCGA-AG-A036-01 COSM167355 c.432C>T p.T144T Substitution - coding silent 2:216369829-216369829 - TCGA-A6-6137-01 COSM1405370 c.706G>A p.V236I Substitution - Missense 2:216277831-216277831 - LS180 COSM2717640 c.128G>A p.R43H Substitution - Missense 2:216370133-216370133 - CSCC-7-T COSM4507022 c.735C>T p.S245S Substitution - coding silent 2:216277802-216277802 - 587332 COSM1214561 c.98G>A p.R33H Substitution - Missense 2:216370163-216370163 - C086 COSM5525917 c.1188C>T p.P396P Substitution - coding silent 2:216259357-216259357 - TCGA-D9-A6EC-06 COSM4401079 c.502C>T p.Q168* Substitution - Nonsense 2:216369759-216369759 - AOCS-064-1-6 COSM4128130 c.778T>C p.F260L Substitution - Missense 2:216277759-216277759 - Gp2D COSM2717629 c.465C>T p.D155D Substitution - coding silent 2:216369796-216369796 - TCGA-AP-A059-01 COSM1016225 c.653G>A p.S218N Substitution - Missense 2:216283593-216283593 - TCGA-D9-A6EC-06 COSM4403638 c.877C>T p.H293Y Substitution - Missense 2:216259668-216259668 - TCGA-A6-5665-01 COSM1405372 c.517G>T p.G173W Substitution - Missense 2:216283729-216283729 - Pat_32_B COSM5861737 c.832G>A p.G278R Substitution - Missense 2:216277705-216277705 - TCGA-B5-A0JY-01 COSM1016222 c.976C>A p.Q326K Substitution - Missense 2:216259569-216259569 - TCGA-EE-A29E-06 COSM3577567 c.1080C>T p.G360G Substitution - coding silent 2:216259465-216259465 - Au5 COSM5605869 c.187C>T p.P63S Substitution - Missense 2:216370074-216370074 - S0059 COSM5883390 c.199G>A p.D67N Substitution - Missense 2:216370062-216370062 - LUAD-F00162 COSM366366 c.189C>A p.P63P Substitution - coding silent 2:216370072-216370072 - HCC022T COSM5817578 c.367G>T p.A123S Substitution - Missense 2:216369894-216369894 - TCGA-13-1501-01 COSM71567 c.722C>G p.A241G Substitution - Missense 2:216277815-216277815 - CCK81 COSM4620786 c.166C>T p.R56C Substitution - Missense 2:216370095-216370095 - TCGA-D3-A51F-06 COSM3577568 c.820C>A p.Q274K Substitution - Missense 2:216277717-216277717 - YUPAER COSM5396172 c.591C>T p.I197I Substitution - coding silent 2:216283655-216283655 - Au2 COSM5599898 c.939A>T p.K313N Substitution - Missense 2:216259606-216259606 - PDA_011 COSM4998472 c.802C>T p.R268C Substitution - Missense 2:216277735-216277735 - 2492702 COSM5599899 c.766A>T p.I256F Substitution - Missense 2:216277771-216277771 - 8016470 COSM3391461 c.517-3C>T p.? Unknown 2:216283732-216283732 - ESO-682 COSM1243787 c.662_663insA p.N221fs*14 Insertion - Frameshift 2:216283583-216283584 - YUOTHO COSM5396173 c.371C>A p.T124K Substitution - Missense 2:216369890-216369890 - J30_T COSM3962386 c.121C>A p.R41S Substitution - Missense 2:216370140-216370140 - TCGA-AX-A0J1-01 COSM1016227 c.82G>A p.A28T Substitution - Missense 2:216370179-216370179 - S02400 COSM5699834 c.51C>A p.S17S Substitution - coding silent 2:216370210-216370210 - RK308_C01 COSM3743593 c.551C>T p.S184L Substitution - Missense 2:216283695-216283695 - 2492702 COSM5599898 c.939A>T p.K313N Substitution - Missense 2:216259606-216259606 - 2492700 COSM5599899 c.766A>T p.I256F Substitution - Missense 2:216277771-216277771 - TCGA-CM-6161-01 COSM1405375 c.93G>A p.M31I Substitution - Missense 2:216370168-216370168 - 250LT COSM4386241 c.421A>T p.K141* Substitution - Nonsense 2:216369840-216369840 - 587278 COSM1214560 c.731G>A p.G244D Substitution - Missense 2:216277806-216277806 - TCGA-06-0173-01 COSM1214561 c.98G>A p.R33H Substitution - Missense 2:216370163-216370163 - CHOL52 COSM1743757 c.164G>A p.R55Q Substitution - Missense 2:216370097-216370097 - C0016T COSM4154793 c.1224G>A p.T408T Substitution - coding silent 2:216259321-216259321 - TCGA-AP-A051-01 COSM1016226 c.411T>C p.D137D Substitution - coding silent 2:216369850-216369850 - 2492722 COSM5723641 c.281G>A p.R94Q Substitution - Missense 2:216369980-216369980 - TCGA-CD-8527-01 COSM2717640 c.128G>A p.R43H Substitution - Missense 2:216370133-216370133 - TCGA-GC-A3RB-01 COSM1306415 c.1143C>A p.I381I Substitution - coding silent 2:216259402-216259402 - 2492700 COSM5599898 c.939A>T p.K313N Substitution - Missense 2:216259606-216259606 - C086 COSM5525916 c.225C>T p.A75A Substitution - coding silent 2:216370036-216370036 - CSCC-27-T COSM4468895 c.156C>T p.F52F Substitution - coding silent 2:216370105-216370105 - TCGA-CA-6717-01 COSM3695258 c.283G>T p.E95* Substitution - Nonsense 2:216369978-216369978 - TCGA-A2-A0YK-01 COSM442294 c.39_41delGTG p.W13delW Deletion - In frame 2:216370220-216370222 - Au2 COSM5599899 c.766A>T p.I256F Substitution - Missense 2:216277771-216277771 - TCGA-46-6026-01 COSM720033 c.860G>T p.C287F Substitution - Missense 2:216277677-216277677 - 2492721 COSM5723641 c.281G>A p.R94Q Substitution - Missense 2:216369980-216369980 - 6115114 COSM5559799 c.13C>A p.L5M Substitution - Missense 2:216370248-216370248 - 2492703 COSM5599899 c.766A>T p.I256F Substitution - Missense 2:216277771-216277771 - ESCC_154 COSM2717635 c.387G>A p.S129S Substitution - coding silent 2:216369874-216369874 - 2492726 COSM3577569 c.747C>T p.I249I Substitution - coding silent 2:216277790-216277790 - WA18 COSM240605 c.459C>A p.S153R Substitution - Missense 2:216369802-216369802 - CSCC-10-T COSM4492991 c.407C>T p.S136L Substitution - Missense 2:216369854-216369854 - YURAY COSM5396171 c.833G>A p.G278E Substitution - Missense 2:216277704-216277704 - 2492725 COSM3577569 c.747C>T p.I249I Substitution - coding silent 2:216277790-216277790 - ESCC-F6 COSM5048181 c.794delG p.R265fs*24 Deletion - Frameshift 2:216277743-216277743 - S0060 COSM5883390 c.199G>A p.D67N Substitution - Missense 2:216370062-216370062 - BD6T COSM209984 c.852C>T p.D284D Substitution - coding silent 2:216277685-216277685 - RK125_C01 COSM3702131 c.587G>A p.W196* Substitution - Nonsense 2:216283659-216283659 - CHC1717T COSM4802067 c.940G>T p.V314L Substitution - Missense 2:216259605-216259605 - AOCS-137-3-7 COSM4128129 c.950A>G p.Y317C Substitution - Missense 2:216259595-216259595 - NPC23F COSM4996194 c.257G>T p.G86V Substitution - Missense 2:216370004-216370004 - PCSI_0024_Pa_C COSM1214561 c.98G>A p.R33H Substitution - Missense 2:216370163-216370163 - NCI-H727 COSM5368349 c.212C>A p.P71H Substitution - Missense 2:216370049-216370049 - TCGA-EE-A2MU-06 COSM3577569 c.747C>T p.I249I Substitution - coding silent 2:216277790-216277790 - TCGA-36-2533-01 COSM1326432 c.179C>T p.A60V Substitution - Missense 2:216370082-216370082 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.170377;Hs.170378;Hs.170388 2q35 608208 1231132|dbSNP|BC098448|C/T|non-coding||1828|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 5-UTRSNV . c.1-13T>G 2 217234996 ESCA A G IntronicSNV . c.517-30750T>C 2 217179202 CLL CAC - InFrameDeletion p.W13delW c.39_41delGTG 2 217234943 BRCA CAC - InFrameDeletion p.W13delW c.39_41delGTG 2 217234943 HNSC C A IntronicSNV . c.517-3700G>T 2 217152152 CLL C A Missense p.A250S c.748G>T 2 217142512 LUAD C A Missense p.C287F c.860G>T 2 217142400 LUSC C A Missense p.G278W c.832G>T 2 217142428 LUAD C A Nonsense p.E348* c.1042G>T 2 217124226 HNSC C T Missense p.C16Y c.47G>A 2 217234937 LUAD C T Missense p.D146N c.436G>A 2 217234548 CM C T Missense p.D325N c.973G>A 2 217124295 CM C T Missense p.R304Q c.911G>A 2 217124357 CM C T Missense p.R33H c.98G>A 2 217234886 GBM C T Missense p.R401Q c.1202G>A 2 217124066 LUAD C T Missense p.R43H c.128G>A 2 217234856 GBM C T Synonymous p.E234E c.702G>A 2 217142558 CM C T Synonymous p.L176L c.528G>A 2 217148441 CM - G 5-UTRInsertion . c.1-97dupC 2 217235080 ESCA G A 5-UTRSNV . c.1-60C>T 2 217235043 CM G A IntronicSNV . c.516+19529C>T 2 217214939 CLL G A Missense p.P111S c.331C>T 2 217234653 LUAD G A Missense p.P345S c.1033C>T 2 217124235 HNSC G A Missense p.S297L c.890C>T 2 217124378 HNSC G A Missense p.T144I c.431C>T 2 217234553 CM G A Synonymous p.D284D c.852C>T 2 217142408 COREAD G A Synonymous p.D322D c.966C>T 2 217124302 LUAD G A Synonymous p.G83G c.249C>T 2 217234735 BRCA G A Synonymous p.I249I c.747C>T 2 217142513 CM G A Synonymous p.I384I c.1152C>T 2 217124116 CM G A Synonymous p.P109P c.327C>T 2 217234657 CM G A Synonymous p.T144T c.432C>T 2 217234552 COREAD G C Missense p.A241G c.722C>G 2 217142538 OV G C Missense p.C14W c.42C>G 2 217234942 STAD G - Frameshift p.Q69Sfs*90 c.205delC 2 217234779 LGG G T 3-UTRSNV . c.1230+47C>A 2 217123991 CM G T Missense p.P368H c.1103C>A 2 217124165 SCLC G T Missense p.R164S c.490C>A 2 217234494 SCLC G T Synonymous p.A356A c.1068C>A 2 217124200 LUAD G T Synonymous p.I381I c.1143C>A 2 217124125 BLCA T C Missense p.N309S c.926A>G 2 217124342 CM - T Frameshift p.N221Kfs*14 c.662dupA 2 217148307 ESCA