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 18 54348602 54348602 + Missense_Mutation SNP T T C TCGA-OR-A5J1-01A-11D-A29I-10 TCGA-OR-A5J1-10A-01D-A29L-10 g.chr18:54348602T>C c.325T>C c.(325-327)Tgc>Cgc p.C109R ACC 18 54424373 54424373 + Missense_Mutation SNP G G C TCGA-OR-A5JD-01A-11D-A29I-10 TCGA-OR-A5JD-10B-01D-A29L-10 g.chr18:54424373G>C c.2549G>C c.(2548-2550)gGt>gCt p.G850A BLCA 18 54348569 54348569 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr18:54348569G>A c.292G>A c.(292-294)Gat>Aat p.D98N BLCA 18 54361853 54361853 + Silent SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr18:54361853C>T c.970C>T c.(970-972)Cta>Tta p.L324L BLCA 18 54361932 54361932 + Missense_Mutation SNP C C G TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr18:54361932C>G c.1049C>G c.(1048-1050)tCt>tGt p.S350C BLCA 18 54361959 54361959 + Nonsense_Mutation SNP C C G TCGA-KQ-A41O-01A-12D-A34U-08 TCGA-KQ-A41O-10D-01D-A34X-08 g.chr18:54361959C>G c.1076C>G c.(1075-1077)tCa>tGa p.S359* BLCA 18 54424091 54424091 + Missense_Mutation SNP A A G TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr18:54424091A>G c.2267A>G c.(2266-2268)gAa>gGa p.E756G BLCA 18 54446755 54446755 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr18:54446755G>A c.3041G>A c.(3040-3042)cGa>cAa p.R1014Q BLCA 18 54547217 54547217 + Missense_Mutation SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 g.chr18:54547217C>G c.3347C>G c.(3346-3348)tCt>tGt p.S1116C BLCA 18 54547322 54547322 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 g.chr18:54547322G>A c.3452G>A c.(3451-3453)cGa>cAa p.R1151Q BLCA 18 54591253 54591253 + Silent SNP C C T TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr18:54591253C>T c.3627C>T c.(3625-3627)ttC>ttT p.F1209F BLCA 18 54629687 54629687 + Missense_Mutation SNP G G T TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr18:54629687G>T c.4091G>T c.(4090-4092)cGg>cTg p.R1364L BLCA 18 54629745 54629745 + Silent SNP G G A TCGA-LC-A66R-01A-41D-A30E-08 TCGA-LC-A66R-10A-01D-A30H-08 g.chr18:54629745G>A c.4149G>A c.(4147-4149)cgG>cgA p.R1383R BLCA 18 54688024 54688024 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr18:54688024G>A c.4213G>A c.(4213-4215)Gat>Aat p.D1405N BLCA 18 54694285 54694285 + Silent SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 g.chr18:54694285G>A c.4320G>A c.(4318-4320)caG>caA p.Q1440Q BRCA 18 54348616 54348616 + Silent SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 g.chr18:54348616C>T c.339C>T c.(337-339)ggC>ggT p.G113G BRCA 18 54350050 54350050 + Silent SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 g.chr18:54350050C>T c.486C>T c.(484-486)agC>agT p.S162S BRCA 18 54354174 54354174 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 g.chr18:54354174C>T c.686C>T c.(685-687)tCa>tTa p.S229L BRCA 18 54354207 54354207 + Splice_Site SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr18:54354207T>C c.e7+2 BRCA 18 54362267 54362267 + Missense_Mutation SNP G G T TCGA-BH-A18T-01A-11D-A12B-09 TCGA-BH-A18T-11A-42D-A12B-09 g.chr18:54362267G>T c.1195G>T c.(1195-1197)Gtg>Ttg p.V399L BRCA 18 54385213 54385213 + Missense_Mutation SNP A A G TCGA-A2-A0EQ-01A-11W-A050-09 TCGA-A2-A0EQ-10A-01W-A055-09 g.chr18:54385213A>G c.1597A>G c.(1597-1599)Atc>Gtc p.I533V BRCA 18 54385232 54385232 + Missense_Mutation SNP A A T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 g.chr18:54385232A>T c.1616A>T c.(1615-1617)gAc>gTc p.D539V BRCA 18 54424074 54424074 + Missense_Mutation SNP C C G TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 g.chr18:54424074C>G c.2250C>G c.(2248-2250)atC>atG p.I750M BRCA 18 54424178 54424178 + Nonsense_Mutation SNP C C G TCGA-AR-A0TX-01A-11D-A099-09 TCGA-AR-A0TX-10A-01D-A099-09 g.chr18:54424178C>G c.2354C>G c.(2353-2355)tCa>tGa p.S785* BRCA 18 54591305 54591305 + Nonsense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr18:54591305G>T c.3679G>T c.(3679-3681)Gaa>Taa p.E1227* BRCA 18 54606599 54606599 + Nonsense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr18:54606599C>T c.4039C>T c.(4039-4041)Caa>Taa p.Q1347* BRCA 18 54694261 54694261 + Silent SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr18:54694261C>T c.4296C>T c.(4294-4296)atC>atT p.I1432I BRCA 18 54694371 54694371 + Frame_Shift_Del DEL T T - TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 g.chr18:54694371delT c.4406delT c.(4405-4407)atcfs p.I1469fs CESC 18 54350029 54350029 + Missense_Mutation SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 g.chr18:54350029G>C c.465G>C c.(463-465)aaG>aaC p.K155N CESC 18 54354104 54354104 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 g.chr18:54354104G>C c.616G>C c.(616-618)Gag>Cag p.E206Q CESC 18 54605880 54605880 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr18:54605880G>C c.3948G>C c.(3946-3948)aaG>aaC p.K1316N CESC 18 54605881 54605881 + Missense_Mutation SNP A A G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 g.chr18:54605881A>G c.3949A>G c.(3949-3951)Atg>Gtg p.M1317V CESC 18 54606544 54606544 + Silent SNP T T A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 g.chr18:54606544T>A c.3984T>A c.(3982-3984)gtT>gtA p.V1328V CESC 18 54629743 54629743 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 g.chr18:54629743C>T c.4147C>T c.(4147-4149)Cgg>Tgg p.R1383W CESC 18 54694411 54694411 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 g.chr18:54694411C>T c.4446C>T c.(4444-4446)gaC>gaT p.D1482D CHOL 18 54424284 54424284 + Silent SNP C C T TCGA-W5-AA2I-01A-32D-A417-09 TCGA-W5-AA2I-10A-01D-A41A-09 g.chr18:54424284C>T c.2460C>T c.(2458-2460)tgC>tgT p.C820C COAD 18 54339845 54339845 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:54339845G>A c.99G>A c.(97-99)acG>acA p.T33T COAD 18 54339849 54339849 + Missense_Mutation SNP G G A TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr18:54339849G>A c.103G>A c.(103-105)Gta>Ata p.V35I COAD 18 54339867 54339867 + Missense_Mutation SNP G G A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr18:54339867G>A c.121G>A c.(121-123)Gga>Aga p.G41R COAD 18 54349931 54349931 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr18:54349931A>G c.367A>G c.(367-369)Aat>Gat p.N123D COAD 18 54350048 54350048 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:54350048A>C c.484A>C c.(484-486)Agc>Cgc p.S162R COAD 18 54358513 54358513 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr18:54358513G>A c.784G>A c.(784-786)Ggg>Agg p.G262R COAD 18 54361947 54361947 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr18:54361947T>G c.1064T>G c.(1063-1065)aTt>aGt p.I355S COAD 18 54362208 54362208 + Missense_Mutation SNP T T C TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr18:54362208T>C c.1136T>C c.(1135-1137)tTg>tCg p.L379S COAD 18 54363571 54363571 + Missense_Mutation SNP A A G TCGA-CM-5863-01A-21D-1835-10 TCGA-CM-5863-10A-01D-1835-10 g.chr18:54363571A>G c.1456A>G c.(1456-1458)Ata>Gta p.I486V COAD 18 54363571 54363571 + Missense_Mutation SNP A A G TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr18:54363571A>G c.1456A>G c.(1456-1458)Ata>Gta p.I486V COAD 18 54363571 54363571 + Missense_Mutation SNP A A G TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr18:54363571A>G c.1456A>G c.(1456-1458)Ata>Gta p.I486V COAD 18 54363651 54363651 + Silent SNP T T C TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr18:54363651T>C c.1536T>C c.(1534-1536)ggT>ggC p.G512G COAD 18 54385252 54385252 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:54385252A>C c.1636A>C c.(1636-1638)Agt>Cgt p.S546R COAD 18 54385264 54385264 + Frame_Shift_Del DEL A A - TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr18:54385264delA c.1648delA c.(1648-1650)aaafs p.K551fs COAD 18 54423872 54423872 + Missense_Mutation SNP T T C TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr18:54423872T>C c.2048T>C c.(2047-2049)cTa>cCa p.L683P COAD 18 54423877 54423877 + Missense_Mutation SNP G G A TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr18:54423877G>A c.2053G>A c.(2053-2055)Gac>Aac p.D685N COAD 18 54424012 54424012 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr18:54424012G>A c.2188G>A c.(2188-2190)Ggg>Agg p.G730R COAD 18 54424166 54424166 + Missense_Mutation SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr18:54424166G>A c.2342G>A c.(2341-2343)cGg>cAg p.R781Q COAD 18 54424243 54424243 + Missense_Mutation SNP C C T TCGA-AA-3521-01A-01W-0831-10 TCGA-AA-3521-10A-01W-0831-10 g.chr18:54424243C>T c.2419C>T c.(2419-2421)Ctt>Ttt p.L807F COAD 18 54424440 54424440 + Silent SNP T T C TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr18:54424440T>C c.2616T>C c.(2614-2616)tcT>tcC p.S872S COAD 18 54448837 54448837 + Missense_Mutation SNP T T C TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr18:54448837T>C c.3140T>C c.(3139-3141)aTt>aCt p.I1047T COAD 18 54448878 54448878 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr18:54448878G>A c.3181G>A c.(3181-3183)Gtc>Atc p.V1061I COAD 18 54483287 54483287 + Silent SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr18:54483287G>A c.3216G>A c.(3214-3216)caG>caA p.Q1072Q COAD 18 54591201 54591201 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr18:54591201C>A c.3575C>A c.(3574-3576)cCt>cAt p.P1192H COAD 18 54591322 54591322 + Silent SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr18:54591322C>T c.3696C>T c.(3694-3696)gcC>gcT p.A1232A COAD 18 54603029 54603029 + Missense_Mutation SNP G G C TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr18:54603029G>C c.3724G>C c.(3724-3726)Ggg>Cgg p.G1242R COAD 18 54603083 54603083 + Missense_Mutation SNP T T C TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr18:54603083T>C c.3778T>C c.(3778-3780)Tcg>Ccg p.S1260P COAD 18 54603098 54603098 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr18:54603098G>A c.3793G>A c.(3793-3795)Gcc>Acc p.A1265T COAD 18 54694331 54694331 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr18:54694331T>C c.4366T>C c.(4366-4368)Tcc>Ccc p.S1456P COADREAD 18 54339845 54339845 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:54339845G>A c.99G>A c.(97-99)acG>acA p.T33T COADREAD 18 54339849 54339849 + Missense_Mutation SNP G G A TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr18:54339849G>A c.103G>A c.(103-105)Gta>Ata p.V35I COADREAD 18 54339867 54339867 + Missense_Mutation SNP G G A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr18:54339867G>A c.121G>A c.(121-123)Gga>Aga p.G41R COADREAD 18 54349931 54349931 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr18:54349931A>G c.367A>G c.(367-369)Aat>Gat p.N123D COADREAD 18 54350048 54350048 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:54350048A>C c.484A>C c.(484-486)Agc>Cgc p.S162R COADREAD 18 54358452 54358452 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:54358452C>T c.723C>T c.(721-723)ttC>ttT p.F241F COADREAD 18 54358513 54358513 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr18:54358513G>A c.784G>A c.(784-786)Ggg>Agg p.G262R COADREAD 18 54361947 54361947 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr18:54361947T>G c.1064T>G c.(1063-1065)aTt>aGt p.I355S COADREAD 18 54362208 54362208 + Missense_Mutation SNP T T C TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr18:54362208T>C c.1136T>C c.(1135-1137)tTg>tCg p.L379S COADREAD 18 54363551 54363551 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:54363551G>A c.1436G>A c.(1435-1437)cGg>cAg p.R479Q COADREAD 18 54363571 54363571 + Missense_Mutation SNP A A G TCGA-CM-5863-01A-21D-1835-10 TCGA-CM-5863-10A-01D-1835-10 g.chr18:54363571A>G c.1456A>G c.(1456-1458)Ata>Gta p.I486V COADREAD 18 54363571 54363571 + Missense_Mutation SNP A A G TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr18:54363571A>G c.1456A>G c.(1456-1458)Ata>Gta p.I486V COADREAD 18 54363571 54363571 + Missense_Mutation SNP A A G TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr18:54363571A>G c.1456A>G c.(1456-1458)Ata>Gta p.I486V COADREAD 18 54363651 54363651 + Silent SNP T T C TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr18:54363651T>C c.1536T>C c.(1534-1536)ggT>ggC p.G512G COADREAD 18 54385252 54385252 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:54385252A>C c.1636A>C c.(1636-1638)Agt>Cgt p.S546R COADREAD 18 54385264 54385264 + Frame_Shift_Del DEL A A - TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr18:54385264delA c.1648delA c.(1648-1650)aaafs p.K551fs COADREAD 18 54385328 54385328 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:54385328C>A c.1712C>A c.(1711-1713)tCt>tAt p.S571Y COADREAD 18 54423872 54423872 + Missense_Mutation SNP T T C TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr18:54423872T>C c.2048T>C c.(2047-2049)cTa>cCa p.L683P COADREAD 18 54423877 54423877 + Missense_Mutation SNP G G A TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr18:54423877G>A c.2053G>A c.(2053-2055)Gac>Aac p.D685N COADREAD 18 54424012 54424012 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr18:54424012G>A c.2188G>A c.(2188-2190)Ggg>Agg p.G730R COADREAD 18 54424166 54424166 + Missense_Mutation SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr18:54424166G>A c.2342G>A c.(2341-2343)cGg>cAg p.R781Q COADREAD 18 54424243 54424243 + Missense_Mutation SNP C C T TCGA-AA-3521-01A-01W-0831-10 TCGA-AA-3521-10A-01W-0831-10 g.chr18:54424243C>T c.2419C>T c.(2419-2421)Ctt>Ttt p.L807F COADREAD 18 54424440 54424440 + Silent SNP T T C TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr18:54424440T>C c.2616T>C c.(2614-2616)tcT>tcC p.S872S COADREAD 18 54448837 54448837 + Missense_Mutation SNP T T C TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr18:54448837T>C c.3140T>C c.(3139-3141)aTt>aCt p.I1047T COADREAD 18 54448878 54448878 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr18:54448878G>A c.3181G>A c.(3181-3183)Gtc>Atc p.V1061I COADREAD 18 54483287 54483287 + Silent SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr18:54483287G>A c.3216G>A c.(3214-3216)caG>caA p.Q1072Q COADREAD 18 54591201 54591201 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr18:54591201C>A c.3575C>A c.(3574-3576)cCt>cAt p.P1192H COADREAD 18 54591322 54591322 + Silent SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr18:54591322C>T c.3696C>T c.(3694-3696)gcC>gcT p.A1232A COADREAD 18 54603029 54603029 + Missense_Mutation SNP G G C TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr18:54603029G>C c.3724G>C c.(3724-3726)Ggg>Cgg p.G1242R COADREAD 18 54603083 54603083 + Missense_Mutation SNP T T C TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr18:54603083T>C c.3778T>C c.(3778-3780)Tcg>Ccg p.S1260P COADREAD 18 54603098 54603098 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr18:54603098G>A c.3793G>A c.(3793-3795)Gcc>Acc p.A1265T COADREAD 18 54694331 54694331 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr18:54694331T>C c.4366T>C c.(4366-4368)Tcc>Ccc p.S1456P ESCA 18 54346668 54346668 + Splice_Site SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr18:54346668G>T c.265G>T c.(265-267)Gga>Tga p.G89* ESCA 18 54348614 54348614 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr18:54348614G>A c.337G>A c.(337-339)Ggc>Agc p.G113S ESCA 18 54349962 54349962 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 g.chr18:54349962G>T c.398G>T c.(397-399)gGa>gTa p.G133V ESCA 18 54358513 54358513 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 g.chr18:54358513G>T c.784G>T c.(784-786)Ggg>Tgg p.G262W ESCA 18 54362387 54362387 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 g.chr18:54362387G>T c.1315G>T c.(1315-1317)Gcc>Tcc p.A439S ESCA 18 54363617 54363617 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr18:54363617C>G c.1502C>G c.(1501-1503)tCt>tGt p.S501C ESCA 18 54363659 54363659 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr18:54363659T>C c.1544T>C c.(1543-1545)aTt>aCt p.I515T ESCA 18 54423951 54423951 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr18:54423951G>T c.2127G>T c.(2125-2127)agG>agT p.R709S ESCA 18 54426150 54426150 + Silent SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 g.chr18:54426150T>C c.2814T>C c.(2812-2814)acT>acC p.T938T GBM 18 54694330 54694330 + Silent SNP G G A TCGA-06-0128-01A-01D-1490-08 TCGA-06-0128-10A-01D-1490-08 g.chr18:54694330G>A c.4365G>A c.(4363-4365)gcG>gcA p.A1455A GBMLGG 18 54398622 54398622 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:54398622G>T c.1783G>T c.(1783-1785)Gat>Tat p.D595Y GBMLGG 18 54423954 54423954 + Silent SNP G G A TCGA-DU-A5TY-01A-11D-A289-08 TCGA-DU-A5TY-10A-01D-A289-08 g.chr18:54423954G>A c.2130G>A c.(2128-2130)ccG>ccA p.P710P GBMLGG 18 54424107 54424107 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:54424107T>C c.2283T>C c.(2281-2283)gaT>gaC p.D761D GBMLGG 18 54424326 54424326 + Silent SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 g.chr18:54424326G>A c.2502G>A c.(2500-2502)tcG>tcA p.S834S GBMLGG 18 54424345 54424345 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:54424345G>T c.2521G>T c.(2521-2523)Gga>Tga p.G841* GBMLGG 18 54446754 54446754 + Nonsense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 g.chr18:54446754C>T c.3040C>T c.(3040-3042)Cga>Tga p.R1014* GBMLGG 18 54629713 54629713 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:54629713C>T c.4117C>T c.(4117-4119)Cgc>Tgc p.R1373C GBMLGG 18 54694330 54694330 + Silent SNP G G A TCGA-06-0128-01A-01D-1490-08 TCGA-06-0128-10A-01D-1490-08 g.chr18:54694330G>A c.4365G>A c.(4363-4365)gcG>gcA p.A1455A HNSC 18 54358527 54358527 + Silent SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 g.chr18:54358527C>G c.798C>G c.(796-798)gtC>gtG p.V266V HNSC 18 54363476 54363476 + Missense_Mutation SNP G G T TCGA-CN-A6V3-01A-12D-A34J-08 TCGA-CN-A6V3-10A-01D-A34M-08 g.chr18:54363476G>T c.1361G>T c.(1360-1362)tGg>tTg p.W454L HNSC 18 54385258 54385258 + Nonsense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 g.chr18:54385258C>T c.1642C>T c.(1642-1644)Cga>Tga p.R548* HNSC 18 54385306 54385306 + Missense_Mutation SNP C C G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 g.chr18:54385306C>G c.1690C>G c.(1690-1692)Caa>Gaa p.Q564E HNSC 18 54423844 54423844 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 g.chr18:54423844C>T c.2020C>T c.(2020-2022)Ctg>Ttg p.L674L HNSC 18 54424102 54424102 + Missense_Mutation SNP G G C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 g.chr18:54424102G>C c.2278G>C c.(2278-2280)Gat>Cat p.D760H HNSC 18 54448880 54448880 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr18:54448880C>A c.3183C>A c.(3181-3183)gtC>gtA p.V1061V HNSC 18 54483274 54483274 + Nonsense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr18:54483274C>G c.3203C>G c.(3202-3204)tCa>tGa p.S1068* HNSC 18 54547249 54547249 + Missense_Mutation SNP A A G TCGA-CN-6013-01A-11D-1683-08 TCGA-CN-6013-10A-01D-1683-08 g.chr18:54547249A>G c.3379A>G c.(3379-3381)Att>Gtt p.I1127V HNSC 18 54547341 54547347 + Frame_Shift_Del DEL TGAGGGA TGAGGGA - TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 g.chr18:54547341_54547347delTGAGGGA c.3471_3477delTGAGGGA c.(3469-3477)cctgagggafs p.PEG1157fs HNSC 18 54591315 54591315 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 g.chr18:54591315C>T c.3689C>T c.(3688-3690)gCc>gTc p.A1230V HNSC 18 54606602 54606602 + Missense_Mutation SNP G G C TCGA-WA-A7GZ-01A-11D-A34J-08 TCGA-WA-A7GZ-10A-01D-A34M-08 g.chr18:54606602G>C c.4042G>C c.(4042-4044)Gaa>Caa p.E1348Q KICH 18 54358459 54358459 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr18:54358459G>A c.730G>A c.(730-732)Gga>Aga p.G244R KICH 18 54591323 54591323 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr18:54591323G>A c.3697G>A c.(3697-3699)Gag>Aag p.E1233K KIPAN 18 54358459 54358459 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr18:54358459G>A c.730G>A c.(730-732)Gga>Aga p.G244R KIPAN 18 54424323 54424323 + Silent SNP A A G TCGA-CW-6087-01A-11D-1669-08 TCGA-CW-6087-11A-01D-1669-08 g.chr18:54424323A>G c.2499A>G c.(2497-2499)gtA>gtG p.V833V KIPAN 18 54591323 54591323 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr18:54591323G>A c.3697G>A c.(3697-3699)Gag>Aag p.E1233K KIRC 18 54424323 54424323 + Silent SNP A A G TCGA-CW-6087-01A-11D-1669-08 TCGA-CW-6087-11A-01D-1669-08 g.chr18:54424323A>G c.2499A>G c.(2497-2499)gtA>gtG p.V833V LGG 18 54398622 54398622 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:54398622G>T c.1783G>T c.(1783-1785)Gat>Tat p.D595Y LGG 18 54423954 54423954 + Silent SNP G G A TCGA-DU-A5TY-01A-11D-A289-08 TCGA-DU-A5TY-10A-01D-A289-08 g.chr18:54423954G>A c.2130G>A c.(2128-2130)ccG>ccA p.P710P LGG 18 54424107 54424107 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:54424107T>C c.2283T>C c.(2281-2283)gaT>gaC p.D761D LGG 18 54424326 54424326 + Silent SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 g.chr18:54424326G>A c.2502G>A c.(2500-2502)tcG>tcA p.S834S LGG 18 54424345 54424345 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:54424345G>T c.2521G>T c.(2521-2523)Gga>Tga p.G841* LGG 18 54446754 54446754 + Nonsense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 g.chr18:54446754C>T c.3040C>T c.(3040-3042)Cga>Tga p.R1014* LGG 18 54629713 54629713 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:54629713C>T c.4117C>T c.(4117-4119)Cgc>Tgc p.R1373C LIHC 18 54349915 54349915 + Frame_Shift_Del DEL C C - TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr18:54349915delC c.351delC c.(349-351)tacfs p.Y117fs LIHC 18 54358487 54358487 + Missense_Mutation SNP C C G TCGA-DD-A3A8-01A-11D-A22F-10 TCGA-DD-A3A8-11A-11D-A22F-10 g.chr18:54358487C>G c.758C>G c.(757-759)cCt>cGt p.P253R LIHC 18 54358525 54358525 + Missense_Mutation SNP G G A TCGA-DD-A73E-01A-12D-A32G-10 TCGA-DD-A73E-10A-01D-A32G-10 g.chr18:54358525G>A c.796G>A c.(796-798)Gtc>Atc p.V266I LIHC 18 54362254 54362254 + Missense_Mutation SNP A A G TCGA-G3-A25W-01A-11D-A16V-10 TCGA-G3-A25W-11A-12D-A16V-10 g.chr18:54362254A>G c.1182A>G c.(1180-1182)atA>atG p.I394M LIHC 18 54426112 54426112 + Missense_Mutation SNP A A G TCGA-DD-AADW-01A-11D-A38X-10 TCGA-DD-AADW-10A-01D-A38X-10 g.chr18:54426112A>G c.2776A>G c.(2776-2778)Acc>Gcc p.T926A LIHC 18 54547190 54547190 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr18:54547190T>C c.3320T>C c.(3319-3321)gTc>gCc p.V1107A LIHC 18 54687994 54687994 + Missense_Mutation SNP G G A TCGA-XR-A8TD-01A-12D-A38X-10 TCGA-XR-A8TD-10A-01D-A38X-10 g.chr18:54687994G>A c.4183G>A c.(4183-4185)Gga>Aga p.G1395R LUAD 18 54339866 54339866 + Silent SNP C C T TCGA-J2-8194-01A-11D-2238-08 TCGA-J2-8194-10A-01D-2238-08 g.chr18:54339866C>T c.120C>T c.(118-120)gaC>gaT p.D40D LUAD 18 54339881 54339881 + Silent SNP C C T TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr18:54339881C>T c.135C>T c.(133-135)ctC>ctT p.L45L LUAD 18 54349938 54349938 + Missense_Mutation SNP G G T TCGA-69-8253-01A-11D-2284-08 TCGA-69-8253-10A-01D-2284-08 g.chr18:54349938G>T c.374G>T c.(373-375)cGa>cTa p.R125L LUAD 18 54358458 54358458 + Silent SNP C C T TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr18:54358458C>T c.729C>T c.(727-729)gcC>gcT p.A243A LUAD 18 54358470 54358471 + Frame_Shift_Ins INS - - T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr18:54358470_54358471insT c.741_742insT c.(742-744)ttgfs p.L248fs LUAD 18 54361912 54361912 + Silent SNP G G C TCGA-55-1595-01A-01D-0969-08 TCGA-55-1595-11A-01D-0969-08 g.chr18:54361912G>C c.1029G>C c.(1027-1029)ctG>ctC p.L343L LUAD 18 54361959 54361959 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr18:54361959C>T c.1076C>T c.(1075-1077)tCa>tTa p.S359L LUAD 18 54362369 54362369 + Missense_Mutation SNP G G T TCGA-97-A4M7-01A-11D-A24P-08 TCGA-97-A4M7-10A-01D-A24P-08 g.chr18:54362369G>T c.1297G>T c.(1297-1299)Gta>Tta p.V433L LUAD 18 54363593 54363593 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr18:54363593C>T c.1478C>T c.(1477-1479)tCa>tTa p.S493L LUAD 18 54363664 54363664 + Missense_Mutation SNP C C G TCGA-97-A4M5-01A-11D-A24P-08 TCGA-97-A4M5-10A-01D-A24P-08 g.chr18:54363664C>G c.1549C>G c.(1549-1551)Caa>Gaa p.Q517E LUAD 18 54385314 54385314 + Missense_Mutation SNP C C G TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr18:54385314C>G c.1698C>G c.(1696-1698)atC>atG p.I566M LUAD 18 54398639 54398639 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 g.chr18:54398639G>T c.1800G>T c.(1798-1800)ggG>ggT p.G600G LUAD 18 54398738 54398738 + Silent SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr18:54398738G>A c.1899G>A c.(1897-1899)acG>acA p.T633T LUAD 18 54398770 54398770 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 g.chr18:54398770C>T c.1931C>T c.(1930-1932)gCc>gTc p.A644V LUAD 18 54444048 54444048 + Missense_Mutation SNP G G T TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr18:54444048G>T c.2884G>T c.(2884-2886)Gat>Tat p.D962Y LUAD 18 54444111 54444111 + Splice_Site SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr18:54444111G>T c.2947G>T c.(2947-2949)Ggt>Tgt p.G983C LUAD 18 54446673 54446673 + Silent SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01W-0928-08 g.chr18:54446673T>C c.2959T>C c.(2959-2961)Tta>Cta p.L987L LUAD 18 54448787 54448787 + Silent SNP G G T TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr18:54448787G>T c.3090G>T c.(3088-3090)ctG>ctT p.L1030L LUAD 18 54448788 54448788 + Missense_Mutation SNP C C T TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr18:54448788C>T c.3091C>T c.(3091-3093)Ctt>Ttt p.L1031F LUAD 18 54483283 54483283 + Missense_Mutation SNP C C A TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr18:54483283C>A c.3212C>A c.(3211-3213)gCg>gAg p.A1071E LUAD 18 54547264 54547264 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr18:54547264G>C c.3394G>C c.(3394-3396)Gta>Cta p.V1132L LUAD 18 54547391 54547391 + Missense_Mutation SNP A A G TCGA-55-8614-01A-11D-2393-08 TCGA-55-8614-10A-01D-2393-08 g.chr18:54547391A>G c.3521A>G c.(3520-3522)cAt>cGt p.H1174R LUAD 18 54591321 54591321 + Missense_Mutation SNP C C T TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr18:54591321C>T c.3695C>T c.(3694-3696)gCc>gTc p.A1232V LUAD 18 54591323 54591323 + Missense_Mutation SNP G G C TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr18:54591323G>C c.3697G>C c.(3697-3699)Gag>Cag p.E1233Q LUAD 18 54605764 54605764 + Splice_Site SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 g.chr18:54605764G>T c.3832G>T c.(3832-3834)Gta>Tta p.V1278L LUAD 18 54629724 54629724 + Silent SNP A A T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 g.chr18:54629724A>T c.4128A>T c.(4126-4128)tcA>tcT p.S1376S LUAD 18 54688028 54688028 + Missense_Mutation SNP G G T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr18:54688028G>T c.4217G>T c.(4216-4218)gGa>gTa p.G1406V LUAD 18 54688052 54688052 + Missense_Mutation SNP A A G TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 g.chr18:54688052A>G c.4241A>G c.(4240-4242)aAc>aGc p.N1414S LUAD 18 54694276 54694276 + Silent SNP G G T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr18:54694276G>T c.4311G>T c.(4309-4311)tcG>tcT p.S1437S LUAD 18 54694328 54694328 + Missense_Mutation SNP G G C TCGA-86-8672-01A-21D-2393-08 TCGA-86-8672-10A-01D-2393-08 g.chr18:54694328G>C c.4363G>C c.(4363-4365)Gcg>Ccg p.A1455P LUAD 18 54694328 54694328 + Missense_Mutation SNP G G T TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr18:54694328G>T c.4363G>T c.(4363-4365)Gcg>Tcg p.A1455S LUAD 18 54694330 54694330 + Silent SNP G G T TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr18:54694330G>T c.4365G>T c.(4363-4365)gcG>gcT p.A1455A LUAD 18 54694338 54694338 + Missense_Mutation SNP G G T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr18:54694338G>T c.4373G>T c.(4372-4374)gGc>gTc p.G1458V LUAD 18 54694412 54694412 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr18:54694412G>T c.4447G>T c.(4447-4449)Ggg>Tgg p.G1483W LUSC 18 54339771 54339771 + Missense_Mutation SNP C C T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 g.chr18:54339771C>T c.25C>T c.(25-27)Ccc>Tcc p.P9S LUSC 18 54349917 54349917 + Missense_Mutation SNP A A G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr18:54349917A>G c.353A>G c.(352-354)cAg>cGg p.Q118R LUSC 18 54398666 54398666 + Silent SNP T T C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr18:54398666T>C c.1827T>C c.(1825-1827)gcT>gcC p.A609A LUSC 18 54398770 54398770 + Missense_Mutation SNP C C G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 g.chr18:54398770C>G c.1931C>G c.(1930-1932)gCc>gGc p.A644G LUSC 18 54398814 54398814 + Missense_Mutation SNP G G C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 g.chr18:54398814G>C c.1975G>C c.(1975-1977)Gag>Cag p.E659Q LUSC 18 54423878 54423878 + Missense_Mutation SNP A A T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr18:54423878A>T c.2054A>T c.(2053-2055)gAc>gTc p.D685V LUSC 18 54423947 54423947 + Missense_Mutation SNP C C T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 g.chr18:54423947C>T c.2123C>T c.(2122-2124)tCt>tTt p.S708F LUSC 18 54424078 54424078 + Missense_Mutation SNP G G C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr18:54424078G>C c.2254G>C c.(2254-2256)Gag>Cag p.E752Q LUSC 18 54424311 54424311 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr18:54424311C>T c.2487C>T c.(2485-2487)ccC>ccT p.P829P LUSC 18 54424511 54424511 + Missense_Mutation SNP C C G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr18:54424511C>G c.2687C>G c.(2686-2688)tCt>tGt p.S896C LUSC 18 54605772 54605772 + Missense_Mutation SNP A A C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 g.chr18:54605772A>C c.3840A>C c.(3838-3840)agA>agC p.R1280S OV 18 54363571 54363571 + Missense_Mutation SNP A A C TCGA-13-1495-01A-01W-0545-08 TCGA-13-1495-10A-01D-0472-08 g.chr18:54363571A>C c.1456A>C c.(1456-1458)Ata>Cta p.I486L OV 18 54424291 54424291 + Missense_Mutation SNP C C T TCGA-23-2647-01A-01D-1526-09 TCGA-23-2647-10A-01D-1526-09 g.chr18:54424291C>T c.2467C>T c.(2467-2469)Cgc>Tgc p.R823C OV 18 54603085 54603085 + Silent SNP G G A TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 g.chr18:54603085G>A c.3780G>A c.(3778-3780)tcG>tcA p.S1260S PAAD 18 54358513 54358513 + Frame_Shift_Del DEL G G - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 g.chr18:54358513delG c.784delG c.(784-786)gggfs p.G263fs PAAD 18 54385226 54385226 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:54385226C>T c.1610C>T c.(1609-1611)gCc>gTc p.A537V PAAD 18 54423953 54423953 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:54423953C>T c.2129C>T c.(2128-2130)cCg>cTg p.P710L PAAD 18 54547231 54547231 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:54547231C>T c.3361C>T c.(3361-3363)Cgg>Tgg p.R1121W PAAD 18 54591315 54591315 + Missense_Mutation SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr18:54591315C>T c.3689C>T c.(3688-3690)gCc>gTc p.A1230V PAAD 18 54591315 54591315 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 g.chr18:54591315C>T c.3689C>T c.(3688-3690)gCc>gTc p.A1230V PRAD 18 54339808 54339808 + Missense_Mutation SNP G G T TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 g.chr18:54339808G>T c.62G>T c.(61-63)tGc>tTc p.C21F PRAD 18 54398626 54398626 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr18:54398626G>A c.1787G>A c.(1786-1788)cGt>cAt p.R596H PRAD 18 54398817 54398817 + Missense_Mutation SNP G G A TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 g.chr18:54398817G>A c.1978G>A c.(1978-1980)Gca>Aca p.A660T PRAD 18 54547218 54547218 + Silent SNP T T C TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 g.chr18:54547218T>C c.3348T>C c.(3346-3348)tcT>tcC p.S1116S PRAD 18 54547245 54547245 + Silent SNP C C A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 g.chr18:54547245C>A c.3375C>A c.(3373-3375)acC>acA p.T1125T PRAD 18 54591238 54591238 + Silent SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 g.chr18:54591238G>A c.3612G>A c.(3610-3612)ctG>ctA p.L1204L PRAD 18 54603078 54603078 + Missense_Mutation SNP C C T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 g.chr18:54603078C>T c.3773C>T c.(3772-3774)gCc>gTc p.A1258V READ 18 54358452 54358452 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:54358452C>T c.723C>T c.(721-723)ttC>ttT p.F241F READ 18 54363551 54363551 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:54363551G>A c.1436G>A c.(1435-1437)cGg>cAg p.R479Q READ 18 54385328 54385328 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:54385328C>A c.1712C>A c.(1711-1713)tCt>tAt p.S571Y SARC 18 54423947 54423947 + Missense_Mutation SNP C C G TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 g.chr18:54423947C>G c.2123C>G c.(2122-2124)tCt>tGt p.S708C SARC 18 54424260 54424260 + Missense_Mutation SNP G G C TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 g.chr18:54424260G>C c.2436G>C c.(2434-2436)ttG>ttC p.L812F SARC 18 54605777 54605777 + Missense_Mutation SNP C C T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 g.chr18:54605777C>T c.3845C>T c.(3844-3846)aCg>aTg p.T1282M SKCM 18 54339780 54339780 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr18:54339780C>T c.34C>T c.(34-36)Ctt>Ttt p.L12F SKCM 18 54339790 54339790 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr18:54339790G>A c.44G>A c.(43-45)cGa>cAa p.R15Q SKCM 18 54349978 54349978 + Silent SNP C C T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr18:54349978C>T c.414C>T c.(412-414)atC>atT p.I138I SKCM 18 54363639 54363639 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr18:54363639C>T c.1524C>T c.(1522-1524)ttC>ttT p.F508F SKCM 18 54363639 54363639 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:54363639C>T c.1524C>T c.(1522-1524)ttC>ttT p.F508F SKCM 18 54363643 54363643 + Missense_Mutation SNP G G T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr18:54363643G>T c.1528G>T c.(1528-1530)Gtt>Ttt p.V510F SKCM 18 54385259 54385259 + Missense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr18:54385259G>A c.1643G>A c.(1642-1644)cGa>cAa p.R548Q SKCM 18 54424156 54424156 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr18:54424156C>T c.2332C>T c.(2332-2334)Cct>Tct p.P778S SKCM 18 54424157 54424157 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr18:54424157C>T c.2333C>T c.(2332-2334)cCt>cTt p.P778L SKCM 18 54444026 54444026 + Silent SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr18:54444026C>T c.2862C>T c.(2860-2862)gtC>gtT p.V954V SKCM 18 54446734 54446734 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr18:54446734C>T c.3020C>T c.(3019-3021)cCc>cTc p.P1007L SKCM 18 54591200 54591200 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr18:54591200C>T c.3574C>T c.(3574-3576)Cct>Tct p.P1192S SKCM 18 54606596 54606596 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr18:54606596C>T c.4036C>T c.(4036-4038)Ctt>Ttt p.L1346F SKCM 18 54694330 54694330 + Silent SNP G G A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr18:54694330G>A c.4365G>A c.(4363-4365)gcG>gcA p.A1455A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 18 54354160 54354160 single base substitution A G downstream_gene_variant BLCA-CN 18 54354160 54354160 single base substitution A G intron_variant BLCA-CN 18 54354160 54354160 single base substitution A G synonymous_variant A224A 672A>G BLCA-CN 18 54424349 54424349 single base substitution G T downstream_gene_variant BLCA-CN 18 54424349 54424349 single base substitution G T intron_variant BLCA-CN 18 54424349 54424349 single base substitution G T missense_variant G244V 731G>T BLCA-CN 18 54424349 54424349 single base substitution G T missense_variant G842V 2525G>T BLCA-CN 18 54424349 54424349 single base substitution G T upstream_gene_variant BLCA-CN 18 54694452 54694452 single base substitution C T 3_prime_UTR_variant BLCA-US 18 54348569 54348569 single base substitution G A intron_variant BLCA-US 18 54348569 54348569 single base substitution G A missense_variant D98N 292G>A BLCA-US 18 54547217 54547217 single base substitution C G intron_variant BLCA-US 18 54547217 54547217 single base substitution C G missense_variant S1083C 3248C>G BLCA-US 18 54547217 54547217 single base substitution C G missense_variant S1116C 3347C>G BLCA-US 18 54688024 54688024 single base substitution G A 3_prime_UTR_variant BLCA-US 18 54688024 54688024 single base substitution G A intron_variant BLCA-US 18 54688024 54688024 single base substitution G A missense_variant D1372N 4114G>A BLCA-US 18 54688024 54688024 single base substitution G A missense_variant D1405N 4213G>A BLCA-US 18 54694285 54694285 single base substitution G A synonymous_variant Q1407Q 4221G>A BLCA-US 18 54694285 54694285 single base substitution G A synonymous_variant Q1440Q 4320G>A BLCA-US 18 54694285 54694285 single base substitution G A synonymous_variant Q17Q 51G>A BOCA-FR 18 54377612 54377612 single base substitution C T intron_variant BOCA-FR 18 54377893 54377893 single base substitution C G intron_variant BOCA-FR 18 54378227 54378227 single base substitution C G intron_variant BOCA-FR 18 54379640 54379640 single base substitution C G intron_variant BOCA-FR 18 54379747 54379747 single base substitution C A intron_variant BOCA-FR 18 54385534 54385534 single base substitution C G intron_variant BOCA-FR 18 54385534 54385534 single base substitution C G upstream_gene_variant BOCA-UK 18 54424399 54424399 single base substitution T A downstream_gene_variant BOCA-UK 18 54424399 54424399 single base substitution T A intron_variant BOCA-UK 18 54424399 54424399 single base substitution T A missense_variant S261T 781T>A BOCA-UK 18 54424399 54424399 single base substitution T A missense_variant S859T 2575T>A BOCA-UK 18 54424399 54424399 single base substitution T A upstream_gene_variant BRCA-EU 18 54315931 54315931 single base substitution G A upstream_gene_variant BRCA-EU 18 54316219 54316219 single base substitution T C upstream_gene_variant BRCA-EU 18 54316326 54316326 single base substitution C T upstream_gene_variant BRCA-EU 18 54317489 54317489 single base substitution G A upstream_gene_variant BRCA-EU 18 54317895 54317895 single base substitution G A upstream_gene_variant BRCA-EU 18 54318390 54318390 single base substitution C G upstream_gene_variant BRCA-EU 18 54319060 54319060 single base substitution C A intron_variant BRCA-EU 18 54320295 54320295 single base substitution G T intron_variant BRCA-EU 18 54320863 54320863 single base substitution C G intron_variant BRCA-EU 18 54321997 54321997 single base substitution C T intron_variant BRCA-EU 18 54322195 54322195 single base substitution C T intron_variant BRCA-EU 18 54323293 54323293 insertion of <=200bp - TG intron_variant BRCA-EU 18 54324222 54324222 single base substitution T C intron_variant BRCA-EU 18 54324352 54324352 single base substitution C G intron_variant BRCA-EU 18 54325801 54325801 single base substitution C T intron_variant BRCA-EU 18 54325963 54325963 single base substitution C T intron_variant BRCA-EU 18 54325964 54325964 single base substitution G A intron_variant BRCA-EU 18 54326239 54326239 single base substitution G A intron_variant BRCA-EU 18 54326656 54326656 single base substitution C T intron_variant BRCA-EU 18 54327863 54327863 single base substitution T C intron_variant BRCA-EU 18 54328814 54328814 single base substitution T C intron_variant BRCA-EU 18 54330415 54330415 single base substitution C G intron_variant BRCA-EU 18 54330675 54330675 single base substitution G A intron_variant BRCA-EU 18 54330998 54330998 single base substitution G A intron_variant BRCA-EU 18 54331023 54331023 single base substitution C T intron_variant BRCA-EU 18 54331097 54331097 insertion of <=200bp - A intron_variant BRCA-EU 18 54331621 54331621 single base substitution G A intron_variant BRCA-EU 18 54333576 54333576 single base substitution A C intron_variant BRCA-EU 18 54337338 54337338 deletion of <=200bp T - intron_variant BRCA-EU 18 54337849 54337849 single base substitution C T intron_variant BRCA-EU 18 54339241 54339241 single base substitution G A intron_variant BRCA-EU 18 54339577 54339577 deletion of <=200bp T - intron_variant BRCA-EU 18 54341504 54341504 single base substitution G T intron_variant BRCA-EU 18 54342752 54342752 single base substitution G A intron_variant BRCA-EU 18 54342918 54342918 single base substitution C T intron_variant BRCA-EU 18 54344358 54344358 single base substitution G C intron_variant BRCA-EU 18 54344562 54344562 single base substitution C G intron_variant BRCA-EU 18 54345578 54345578 single base substitution C T intron_variant BRCA-EU 18 54346022 54346022 single base substitution A T intron_variant BRCA-EU 18 54347064 54347064 single base substitution G A intron_variant BRCA-EU 18 54351976 54351976 single base substitution G C downstream_gene_variant BRCA-EU 18 54351976 54351976 single base substitution G C intron_variant BRCA-EU 18 54353164 54353164 deletion of <=200bp T - downstream_gene_variant BRCA-EU 18 54353164 54353164 deletion of <=200bp T - intron_variant BRCA-EU 18 54353664 54353664 deletion of <=200bp T - downstream_gene_variant BRCA-EU 18 54353664 54353664 deletion of <=200bp T - intron_variant BRCA-EU 18 54355148 54355148 single base substitution C A intron_variant BRCA-EU 18 54356415 54356415 single base substitution G C intron_variant BRCA-EU 18 54358139 54358139 single base substitution T G intron_variant BRCA-EU 18 54358139 54358139 single base substitution T G upstream_gene_variant BRCA-EU 18 54359588 54359588 single base substitution T A intron_variant BRCA-EU 18 54359588 54359588 single base substitution T A upstream_gene_variant BRCA-EU 18 54361601 54361601 single base substitution T C intron_variant BRCA-EU 18 54361601 54361601 single base substitution T C upstream_gene_variant BRCA-EU 18 54364545 54364545 single base substitution A T downstream_gene_variant BRCA-EU 18 54364545 54364545 single base substitution A T intron_variant BRCA-EU 18 54365426 54365426 single base substitution A T downstream_gene_variant BRCA-EU 18 54365426 54365426 single base substitution A T intron_variant BRCA-EU 18 54367902 54367902 single base substitution G A downstream_gene_variant BRCA-EU 18 54367902 54367902 single base substitution G A intron_variant BRCA-EU 18 54369109 54369109 single base substitution C T intron_variant BRCA-EU 18 54369471 54369471 single base substitution T C intron_variant BRCA-EU 18 54370423 54370423 single base substitution A G intron_variant BRCA-EU 18 54371057 54371057 single base substitution C G intron_variant BRCA-EU 18 54372493 54372493 single base substitution C T intron_variant BRCA-EU 18 54372839 54372839 single base substitution A G intron_variant BRCA-EU 18 54378262 54378262 deletion of <=200bp A - intron_variant BRCA-EU 18 54378777 54378777 deletion of <=200bp T - intron_variant BRCA-EU 18 54381322 54381322 single base substitution C T intron_variant BRCA-EU 18 54381639 54381639 single base substitution T C intron_variant BRCA-EU 18 54381829 54381829 single base substitution G A intron_variant BRCA-EU 18 54382025 54382025 single base substitution A T intron_variant BRCA-EU 18 54382106 54382106 single base substitution T C intron_variant BRCA-EU 18 54382737 54382737 single base substitution T C intron_variant BRCA-EU 18 54385475 54385475 insertion of <=200bp - A intron_variant BRCA-EU 18 54385475 54385475 insertion of <=200bp - A upstream_gene_variant BRCA-EU 18 54385765 54385765 single base substitution C T intron_variant BRCA-EU 18 54385765 54385765 single base substitution C T upstream_gene_variant BRCA-EU 18 54389394 54389394 deletion of <=200bp A - intron_variant BRCA-EU 18 54389399 54389399 single base substitution G C intron_variant BRCA-EU 18 54390711 54390711 single base substitution A C intron_variant BRCA-EU 18 54397621 54397621 single base substitution A G intron_variant BRCA-EU 18 54397790 54397790 single base substitution G A intron_variant BRCA-EU 18 54398536 54398536 single base substitution C T intron_variant BRCA-EU 18 54398709 54398709 single base substitution C G intron_variant BRCA-EU 18 54398709 54398709 single base substitution C G missense_variant P26A 76C>G BRCA-EU 18 54398709 54398709 single base substitution C G missense_variant P45A 133C>G BRCA-EU 18 54398709 54398709 single base substitution C G missense_variant P624A 1870C>G BRCA-EU 18 54399824 54399824 single base substitution A G intron_variant BRCA-EU 18 54400230 54400230 single base substitution G A intron_variant BRCA-EU 18 54401938 54401938 deletion of <=200bp T - intron_variant BRCA-EU 18 54402757 54402765 deletion of <=200bp CTTAGACTG - intron_variant BRCA-EU 18 54403754 54403754 single base substitution G A intron_variant BRCA-EU 18 54404662 54404662 deletion of <=200bp A - intron_variant BRCA-EU 18 54408757 54408757 single base substitution C A intron_variant BRCA-EU 18 54409317 54409317 single base substitution A G intron_variant BRCA-EU 18 54409325 54409325 single base substitution A T intron_variant BRCA-EU 18 54410916 54410916 single base substitution T C intron_variant BRCA-EU 18 54410996 54411002 multiple base substitution (>=2bp and <=200bp) GAGTATT GGAGGA intron_variant BRCA-EU 18 54414046 54414046 single base substitution C A intron_variant BRCA-EU 18 54417286 54417287 deletion of <=200bp AT - intron_variant BRCA-EU 18 54417317 54417317 single base substitution G A intron_variant BRCA-EU 18 54418283 54418283 deletion of <=200bp T - intron_variant BRCA-EU 18 54420945 54420945 single base substitution A C intron_variant BRCA-EU 18 54420945 54420945 single base substitution A C upstream_gene_variant BRCA-EU 18 54422346 54422346 single base substitution C A intron_variant BRCA-EU 18 54422346 54422346 single base substitution C A upstream_gene_variant BRCA-EU 18 54422467 54422467 single base substitution C A intron_variant BRCA-EU 18 54422467 54422467 single base substitution C A upstream_gene_variant BRCA-EU 18 54425885 54425885 single base substitution C T downstream_gene_variant BRCA-EU 18 54425885 54425885 single base substitution C T intron_variant BRCA-EU 18 54426434 54426434 single base substitution T C downstream_gene_variant BRCA-EU 18 54426434 54426434 single base substitution T C intron_variant BRCA-EU 18 54427788 54427831 deletion of <=200bp CAGTTTATTCTCTTTTTTTGGTCATTAGACATTTGGATTGTGTC - downstream_gene_variant BRCA-EU 18 54427788 54427831 deletion of <=200bp CAGTTTATTCTCTTTTTTTGGTCATTAGACATTTGGATTGTGTC - intron_variant BRCA-EU 18 54427799 54427799 single base substitution C G downstream_gene_variant BRCA-EU 18 54427799 54427799 single base substitution C G intron_variant BRCA-EU 18 54428791 54428791 single base substitution G T downstream_gene_variant BRCA-EU 18 54428791 54428791 single base substitution G T intron_variant BRCA-EU 18 54428941 54428941 single base substitution T C downstream_gene_variant BRCA-EU 18 54428941 54428941 single base substitution T C intron_variant BRCA-EU 18 54430976 54430976 single base substitution G A intron_variant BRCA-EU 18 54432079 54432079 single base substitution C G intron_variant BRCA-EU 18 54432582 54432582 deletion of <=200bp T - intron_variant BRCA-EU 18 54433614 54433614 single base substitution T A intron_variant BRCA-EU 18 54435489 54435489 single base substitution T A intron_variant BRCA-EU 18 54436317 54436317 deletion of <=200bp T - intron_variant BRCA-EU 18 54437164 54437164 single base substitution A G intron_variant BRCA-EU 18 54437500 54437500 single base substitution G A intron_variant BRCA-EU 18 54437865 54437865 insertion of <=200bp - T intron_variant BRCA-EU 18 54438030 54438030 deletion of <=200bp T - intron_variant BRCA-EU 18 54438077 54438077 single base substitution C A intron_variant BRCA-EU 18 54438459 54438459 single base substitution C G intron_variant BRCA-EU 18 54440159 54440159 single base substitution A C intron_variant BRCA-EU 18 54440324 54440324 single base substitution T C intron_variant BRCA-EU 18 54441660 54441660 single base substitution G T intron_variant BRCA-EU 18 54442960 54442960 single base substitution C T intron_variant BRCA-EU 18 54444421 54444421 single base substitution G T intron_variant BRCA-EU 18 54444462 54444462 single base substitution G T intron_variant BRCA-EU 18 54444525 54444525 single base substitution G T intron_variant BRCA-EU 18 54444729 54444729 single base substitution C T intron_variant BRCA-EU 18 54445622 54445622 deletion of <=200bp T - intron_variant BRCA-EU 18 54445737 54445737 single base substitution A C intron_variant BRCA-EU 18 54450984 54450984 single base substitution C A downstream_gene_variant BRCA-EU 18 54450984 54450984 single base substitution C A intron_variant BRCA-EU 18 54451355 54451355 single base substitution C T downstream_gene_variant BRCA-EU 18 54451355 54451355 single base substitution C T intron_variant BRCA-EU 18 54451910 54451910 single base substitution G C downstream_gene_variant BRCA-EU 18 54451910 54451910 single base substitution G C intron_variant BRCA-EU 18 54454481 54454481 single base substitution C T intron_variant BRCA-EU 18 54454871 54454871 single base substitution C G intron_variant BRCA-EU 18 54455174 54455174 single base substitution G C intron_variant BRCA-EU 18 54455883 54455883 single base substitution G A intron_variant BRCA-EU 18 54456238 54456238 single base substitution G C intron_variant BRCA-EU 18 54456312 54456312 single base substitution G A intron_variant BRCA-EU 18 54459654 54459654 single base substitution C A intron_variant BRCA-EU 18 54461224 54461224 single base substitution G A intron_variant BRCA-EU 18 54461662 54461662 single base substitution A G intron_variant BRCA-EU 18 54461836 54461836 single base substitution G A intron_variant BRCA-EU 18 54464948 54464948 single base substitution C G intron_variant BRCA-EU 18 54464981 54464981 single base substitution C G intron_variant BRCA-EU 18 54465048 54465048 single base substitution C T intron_variant BRCA-EU 18 54467280 54467280 single base substitution G C intron_variant BRCA-EU 18 54467289 54467289 insertion of <=200bp - A intron_variant BRCA-EU 18 54468207 54468208 deletion of <=200bp AT - intron_variant BRCA-EU 18 54471215 54471215 single base substitution A G intron_variant BRCA-EU 18 54472125 54472125 single base substitution G C intron_variant BRCA-EU 18 54473395 54473395 single base substitution C T intron_variant BRCA-EU 18 54474030 54474030 single base substitution G A intron_variant BRCA-EU 18 54474430 54474430 single base substitution C A intron_variant BRCA-EU 18 54479229 54479229 single base substitution A G intron_variant BRCA-EU 18 54480491 54480491 single base substitution G A intron_variant BRCA-EU 18 54480761 54480761 deletion of <=200bp T - intron_variant BRCA-EU 18 54481960 54481960 single base substitution A G intron_variant BRCA-EU 18 54483033 54483033 single base substitution C G intron_variant BRCA-EU 18 54483342 54483342 single base substitution G C intron_variant BRCA-EU 18 54483342 54483342 single base substitution G C missense_variant E1058Q 3172G>C BRCA-EU 18 54483342 54483342 single base substitution G C missense_variant E1091Q 3271G>C BRCA-EU 18 54483544 54483544 single base substitution G A intron_variant BRCA-EU 18 54484175 54484175 single base substitution A G intron_variant BRCA-EU 18 54485299 54485299 single base substitution G C intron_variant BRCA-EU 18 54486265 54486265 single base substitution C A intron_variant BRCA-EU 18 54488472 54488472 single base substitution A T intron_variant BRCA-EU 18 54489097 54489097 single base substitution G C intron_variant BRCA-EU 18 54489184 54489184 single base substitution C T intron_variant BRCA-EU 18 54490788 54490788 single base substitution G A intron_variant BRCA-EU 18 54494078 54494078 single base substitution T A intron_variant BRCA-EU 18 54495689 54495689 single base substitution T G intron_variant BRCA-EU 18 54496846 54496846 single base substitution C T intron_variant BRCA-EU 18 54497735 54497735 single base substitution A T intron_variant BRCA-EU 18 54499410 54499410 single base substitution G A intron_variant BRCA-EU 18 54499855 54499855 single base substitution C T intron_variant BRCA-EU 18 54500809 54500809 single base substitution C T intron_variant BRCA-EU 18 54501012 54501012 deletion of <=200bp G - intron_variant BRCA-EU 18 54503533 54503533 single base substitution G T intron_variant BRCA-EU 18 54504774 54504774 single base substitution A G intron_variant BRCA-EU 18 54505026 54505026 single base substitution G A intron_variant BRCA-EU 18 54505093 54505093 single base substitution G A intron_variant BRCA-EU 18 54505939 54505939 single base substitution G C intron_variant BRCA-EU 18 54506351 54506351 single base substitution C A intron_variant BRCA-EU 18 54506519 54506519 single base substitution G T intron_variant BRCA-EU 18 54507572 54507572 deletion of <=200bp A - intron_variant BRCA-EU 18 54507629 54507629 single base substitution G C intron_variant BRCA-EU 18 54508050 54508050 deletion of <=200bp A - intron_variant BRCA-EU 18 54508325 54508325 single base substitution G A intron_variant BRCA-EU 18 54509252 54509252 single base substitution A G intron_variant BRCA-EU 18 54509928 54509928 insertion of <=200bp - AC intron_variant BRCA-EU 18 54510196 54510196 deletion of <=200bp T - intron_variant BRCA-EU 18 54510542 54510542 single base substitution G A intron_variant BRCA-EU 18 54511734 54511734 single base substitution A G intron_variant BRCA-EU 18 54511997 54511997 single base substitution G C intron_variant BRCA-EU 18 54513547 54513547 single base substitution C A intron_variant BRCA-EU 18 54513963 54513963 single base substitution C T intron_variant BRCA-EU 18 54516452 54516452 single base substitution C T intron_variant BRCA-EU 18 54518025 54518025 single base substitution T C intron_variant BRCA-EU 18 54518715 54518715 single base substitution T G intron_variant BRCA-EU 18 54521026 54521026 single base substitution A G intron_variant BRCA-EU 18 54521976 54521976 single base substitution G A intron_variant BRCA-EU 18 54523352 54523352 single base substitution G C intron_variant BRCA-EU 18 54523445 54523445 single base substitution G C intron_variant BRCA-EU 18 54523744 54523744 single base substitution G A intron_variant BRCA-EU 18 54525018 54525018 single base substitution C T intron_variant BRCA-EU 18 54527206 54527206 single base substitution C A intron_variant BRCA-EU 18 54527931 54527931 insertion of <=200bp - A intron_variant BRCA-EU 18 54528730 54528730 single base substitution G C intron_variant BRCA-EU 18 54529429 54529429 single base substitution G A intron_variant BRCA-EU 18 54529597 54529597 single base substitution G C intron_variant BRCA-EU 18 54529890 54529890 single base substitution A G intron_variant BRCA-EU 18 54531913 54531913 single base substitution A T intron_variant BRCA-EU 18 54531992 54531992 single base substitution G C intron_variant BRCA-EU 18 54533575 54533575 deletion of <=200bp T - intron_variant BRCA-EU 18 54537070 54537070 single base substitution G C intron_variant BRCA-EU 18 54537249 54537249 single base substitution G T intron_variant BRCA-EU 18 54538236 54538236 single base substitution T G intron_variant BRCA-EU 18 54539690 54539690 single base substitution G A intron_variant BRCA-EU 18 54539877 54539877 single base substitution C T intron_variant BRCA-EU 18 54541583 54541583 single base substitution C T intron_variant BRCA-EU 18 54541635 54541635 single base substitution T C intron_variant BRCA-EU 18 54542751 54542751 single base substitution C A intron_variant BRCA-EU 18 54542853 54542853 single base substitution G C intron_variant BRCA-EU 18 54546984 54546984 deletion of <=200bp T - intron_variant BRCA-EU 18 54547027 54547027 single base substitution C T intron_variant BRCA-EU 18 54548085 54548085 single base substitution C A intron_variant BRCA-EU 18 54548268 54548268 single base substitution A C intron_variant BRCA-EU 18 54548558 54548558 deletion of <=200bp T - intron_variant BRCA-EU 18 54549802 54549802 single base substitution T C intron_variant BRCA-EU 18 54549830 54549830 single base substitution C A intron_variant BRCA-EU 18 54550671 54550671 insertion of <=200bp - T intron_variant BRCA-EU 18 54551592 54551592 single base substitution C G intron_variant BRCA-EU 18 54552580 54552580 single base substitution G A intron_variant BRCA-EU 18 54552580 54552580 single base substitution G C intron_variant BRCA-EU 18 54553512 54553512 single base substitution C T intron_variant BRCA-EU 18 54553512 54553512 single base substitution C T upstream_gene_variant BRCA-EU 18 54554663 54554663 single base substitution G T intron_variant BRCA-EU 18 54554663 54554663 single base substitution G T upstream_gene_variant BRCA-EU 18 54554698 54554698 single base substitution C T intron_variant BRCA-EU 18 54554698 54554698 single base substitution C T upstream_gene_variant BRCA-EU 18 54556596 54556596 single base substitution A T intron_variant BRCA-EU 18 54556596 54556596 single base substitution A T upstream_gene_variant BRCA-EU 18 54558242 54558242 single base substitution C T intron_variant BRCA-EU 18 54559564 54559564 single base substitution C G intron_variant BRCA-EU 18 54559674 54559674 single base substitution T C intron_variant BRCA-EU 18 54560228 54560228 single base substitution G T intron_variant BRCA-EU 18 54561222 54561222 single base substitution T A intron_variant BRCA-EU 18 54561230 54561230 single base substitution C T intron_variant BRCA-EU 18 54561294 54561294 single base substitution G C intron_variant BRCA-EU 18 54563930 54563930 single base substitution G C intron_variant BRCA-EU 18 54564512 54564512 single base substitution G C intron_variant BRCA-EU 18 54566060 54566060 single base substitution G C intron_variant BRCA-EU 18 54566944 54566944 deletion of <=200bp A - intron_variant BRCA-EU 18 54566944 54566944 insertion of <=200bp - A intron_variant BRCA-EU 18 54567137 54567137 single base substitution T C intron_variant BRCA-EU 18 54568783 54568783 single base substitution C T intron_variant BRCA-EU 18 54568873 54568873 single base substitution G C intron_variant BRCA-EU 18 54569175 54569175 single base substitution G C intron_variant BRCA-EU 18 54569913 54569913 single base substitution C G intron_variant BRCA-EU 18 54571627 54571627 single base substitution T G intron_variant BRCA-EU 18 54572069 54572069 single base substitution G A intron_variant BRCA-EU 18 54573350 54573350 single base substitution G C intron_variant BRCA-EU 18 54574075 54574075 single base substitution C T intron_variant BRCA-EU 18 54575149 54575149 single base substitution A G intron_variant BRCA-EU 18 54575950 54575950 single base substitution G A intron_variant BRCA-EU 18 54577784 54577784 insertion of <=200bp - T intron_variant BRCA-EU 18 54578479 54578479 single base substitution C T intron_variant BRCA-EU 18 54579819 54579819 single base substitution G A intron_variant BRCA-EU 18 54579852 54579852 single base substitution A T intron_variant BRCA-EU 18 54580130 54580130 single base substitution C T intron_variant BRCA-EU 18 54580942 54580942 single base substitution C T intron_variant BRCA-EU 18 54581881 54581881 deletion of <=200bp T - intron_variant BRCA-EU 18 54582150 54582150 insertion of <=200bp - A intron_variant BRCA-EU 18 54583367 54583367 single base substitution A G intron_variant BRCA-EU 18 54584194 54584194 single base substitution C T intron_variant BRCA-EU 18 54584517 54584517 single base substitution C A intron_variant BRCA-EU 18 54585678 54585678 single base substitution C T intron_variant BRCA-EU 18 54585682 54585682 single base substitution G C intron_variant BRCA-EU 18 54589197 54589197 single base substitution G T intron_variant BRCA-EU 18 54591376 54591376 deletion of <=200bp T - intron_variant BRCA-EU 18 54591392 54591392 deletion of <=200bp T - intron_variant BRCA-EU 18 54591642 54591642 single base substitution G T intron_variant BRCA-EU 18 54592489 54592489 single base substitution A G intron_variant BRCA-EU 18 54592541 54592541 single base substitution G T intron_variant BRCA-EU 18 54592557 54592557 single base substitution A C intron_variant BRCA-EU 18 54593148 54593148 single base substitution G T intron_variant BRCA-EU 18 54593485 54593485 single base substitution C A intron_variant BRCA-EU 18 54594725 54594725 single base substitution G C intron_variant BRCA-EU 18 54595926 54595926 single base substitution A C intron_variant BRCA-EU 18 54598700 54598700 deletion of <=200bp T - intron_variant BRCA-EU 18 54598700 54598700 deletion of <=200bp T - upstream_gene_variant BRCA-EU 18 54600194 54600194 single base substitution G A intron_variant BRCA-EU 18 54600194 54600194 single base substitution G A upstream_gene_variant BRCA-EU 18 54602225 54602225 single base substitution G A intron_variant BRCA-EU 18 54602225 54602225 single base substitution G A upstream_gene_variant BRCA-EU 18 54602291 54602291 single base substitution C T intron_variant BRCA-EU 18 54602291 54602291 single base substitution C T upstream_gene_variant BRCA-EU 18 54603732 54603732 single base substitution A C intron_variant BRCA-EU 18 54603830 54603830 single base substitution T C intron_variant BRCA-EU 18 54604216 54604216 deletion of <=200bp T - intron_variant BRCA-EU 18 54605856 54605856 single base substitution A G 3_prime_UTR_variant BRCA-EU 18 54605856 54605856 single base substitution A G intron_variant BRCA-EU 18 54605856 54605856 single base substitution A G synonymous_variant R1275R 3825A>G BRCA-EU 18 54605856 54605856 single base substitution A G synonymous_variant R1308R 3924A>G BRCA-EU 18 54605856 54605856 single base substitution A G synonymous_variant R171R 513A>G BRCA-EU 18 54607685 54607685 insertion of <=200bp - A downstream_gene_variant BRCA-EU 18 54607685 54607685 insertion of <=200bp - A intron_variant BRCA-EU 18 54609202 54609202 single base substitution A G downstream_gene_variant BRCA-EU 18 54609202 54609202 single base substitution A G intron_variant BRCA-EU 18 54609994 54609994 single base substitution A G downstream_gene_variant BRCA-EU 18 54609994 54609994 single base substitution A G intron_variant BRCA-EU 18 54610423 54610423 single base substitution G A downstream_gene_variant BRCA-EU 18 54610423 54610423 single base substitution G A intron_variant BRCA-EU 18 54611108 54611108 single base substitution A G intron_variant BRCA-EU 18 54611377 54611377 single base substitution G A intron_variant BRCA-EU 18 54611503 54611503 single base substitution G A intron_variant BRCA-EU 18 54611980 54611980 single base substitution C G intron_variant BRCA-EU 18 54612460 54612460 single base substitution G A intron_variant BRCA-EU 18 54613539 54613539 single base substitution G A intron_variant BRCA-EU 18 54614454 54614454 single base substitution C T intron_variant BRCA-EU 18 54615053 54615053 single base substitution A G intron_variant BRCA-EU 18 54615112 54615112 single base substitution A T intron_variant BRCA-EU 18 54617701 54617701 single base substitution G A intron_variant BRCA-EU 18 54619612 54619612 single base substitution T C intron_variant BRCA-EU 18 54620451 54620451 single base substitution A T intron_variant BRCA-EU 18 54622559 54622559 single base substitution G A intron_variant BRCA-EU 18 54623796 54623796 single base substitution G A intron_variant BRCA-EU 18 54624320 54624320 single base substitution C T intron_variant BRCA-EU 18 54625599 54625599 single base substitution T A intron_variant BRCA-EU 18 54625599 54625599 single base substitution T A upstream_gene_variant BRCA-EU 18 54626067 54626067 single base substitution A G intron_variant BRCA-EU 18 54626067 54626067 single base substitution A G upstream_gene_variant BRCA-EU 18 54626291 54626291 single base substitution T C intron_variant BRCA-EU 18 54626291 54626291 single base substitution T C upstream_gene_variant BRCA-EU 18 54627830 54627830 single base substitution G C intron_variant BRCA-EU 18 54627830 54627830 single base substitution G C upstream_gene_variant BRCA-EU 18 54628214 54628214 single base substitution A T intron_variant BRCA-EU 18 54628214 54628214 single base substitution A T upstream_gene_variant BRCA-EU 18 54630922 54630922 deletion of <=200bp T - intron_variant BRCA-EU 18 54631318 54631318 single base substitution G A intron_variant BRCA-EU 18 54632001 54632001 single base substitution T C intron_variant BRCA-EU 18 54633591 54633591 single base substitution C A intron_variant BRCA-EU 18 54635268 54635268 single base substitution A G intron_variant BRCA-EU 18 54635922 54635922 single base substitution C G intron_variant BRCA-EU 18 54638062 54638062 deletion of <=200bp T - intron_variant BRCA-EU 18 54639216 54639216 single base substitution A G intron_variant BRCA-EU 18 54639302 54639302 single base substitution G C intron_variant BRCA-EU 18 54640070 54640070 deletion of <=200bp T - intron_variant BRCA-EU 18 54640725 54640725 deletion of <=200bp G - intron_variant BRCA-EU 18 54640725 54640725 insertion of <=200bp - G intron_variant BRCA-EU 18 54641427 54641428 deletion of <=200bp AT - intron_variant BRCA-EU 18 54644807 54644807 single base substitution G A intron_variant BRCA-EU 18 54645731 54645731 single base substitution G A intron_variant BRCA-EU 18 54646262 54646262 single base substitution G A intron_variant BRCA-EU 18 54646787 54646787 single base substitution C T intron_variant BRCA-EU 18 54649356 54649356 single base substitution A C intron_variant BRCA-EU 18 54651543 54651543 single base substitution A G intron_variant BRCA-EU 18 54654478 54654478 single base substitution C T intron_variant BRCA-EU 18 54656963 54656963 deletion of <=200bp T - intron_variant BRCA-EU 18 54657362 54657362 single base substitution G A intron_variant BRCA-EU 18 54658143 54658143 single base substitution C G intron_variant BRCA-EU 18 54659543 54659543 single base substitution A G intron_variant BRCA-EU 18 54659607 54659607 single base substitution A T intron_variant BRCA-EU 18 54661327 54661327 single base substitution T G intron_variant BRCA-EU 18 54662036 54662036 single base substitution G C intron_variant BRCA-EU 18 54662476 54662476 single base substitution C G intron_variant BRCA-EU 18 54662487 54662487 single base substitution C A intron_variant BRCA-EU 18 54664190 54664190 single base substitution A G intron_variant BRCA-EU 18 54665007 54665007 single base substitution A C intron_variant BRCA-EU 18 54665181 54665181 single base substitution A G intron_variant BRCA-EU 18 54666142 54666142 single base substitution C T intron_variant BRCA-EU 18 54667056 54667056 single base substitution G A intron_variant BRCA-EU 18 54670418 54670418 single base substitution G A intron_variant BRCA-EU 18 54670535 54670536 deletion of <=200bp TA - intron_variant BRCA-EU 18 54670653 54670653 single base substitution T A intron_variant BRCA-EU 18 54671263 54671263 single base substitution C T intron_variant BRCA-EU 18 54671857 54671857 single base substitution A G intron_variant BRCA-EU 18 54673143 54673143 single base substitution T C intron_variant BRCA-EU 18 54675314 54675314 single base substitution G T intron_variant BRCA-EU 18 54676571 54676571 single base substitution C G intron_variant BRCA-EU 18 54677101 54677101 single base substitution G C 3_prime_UTR_variant BRCA-EU 18 54677101 54677101 single base substitution G C intron_variant BRCA-EU 18 54677434 54677434 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 18 54677434 54677434 insertion of <=200bp - A intron_variant BRCA-EU 18 54678605 54678608 deletion of <=200bp AAAG - downstream_gene_variant BRCA-EU 18 54678605 54678608 deletion of <=200bp AAAG - intron_variant BRCA-EU 18 54679304 54679304 single base substitution C T downstream_gene_variant BRCA-EU 18 54679304 54679304 single base substitution C T intron_variant BRCA-EU 18 54679888 54679888 single base substitution G A downstream_gene_variant BRCA-EU 18 54679888 54679888 single base substitution G A intron_variant BRCA-EU 18 54680320 54680320 single base substitution G C downstream_gene_variant BRCA-EU 18 54680320 54680320 single base substitution G C intron_variant BRCA-EU 18 54681458 54681458 single base substitution G T downstream_gene_variant BRCA-EU 18 54681458 54681458 single base substitution G T intron_variant BRCA-EU 18 54682677 54682677 deletion of <=200bp T - intron_variant BRCA-EU 18 54683285 54683285 single base substitution G T intron_variant BRCA-EU 18 54683332 54683332 single base substitution G A intron_variant BRCA-EU 18 54683613 54683613 single base substitution G A intron_variant BRCA-EU 18 54684061 54684061 deletion of <=200bp T - intron_variant BRCA-EU 18 54684586 54684586 single base substitution G C intron_variant BRCA-EU 18 54684612 54684612 single base substitution C T intron_variant BRCA-EU 18 54686193 54686193 single base substitution C G intron_variant BRCA-EU 18 54686511 54686511 single base substitution G T intron_variant BRCA-EU 18 54686903 54686903 single base substitution G C intron_variant BRCA-EU 18 54687222 54687222 single base substitution T C intron_variant BRCA-EU 18 54688928 54688928 single base substitution A C downstream_gene_variant BRCA-EU 18 54688928 54688928 single base substitution A C intron_variant BRCA-EU 18 54690878 54690878 single base substitution G A downstream_gene_variant BRCA-EU 18 54690878 54690878 single base substitution G A intron_variant BRCA-EU 18 54692142 54692142 single base substitution T C downstream_gene_variant BRCA-EU 18 54692142 54692142 single base substitution T C intron_variant BRCA-EU 18 54692690 54692690 single base substitution A G downstream_gene_variant BRCA-EU 18 54692690 54692690 single base substitution A G intron_variant BRCA-EU 18 54692749 54692749 single base substitution G T downstream_gene_variant BRCA-EU 18 54692749 54692749 single base substitution G T intron_variant BRCA-EU 18 54693008 54693008 single base substitution G C downstream_gene_variant BRCA-EU 18 54693008 54693008 single base substitution G C intron_variant BRCA-EU 18 54694870 54694870 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 54694870 54694870 single base substitution G A downstream_gene_variant BRCA-EU 18 54695920 54695920 single base substitution A G 3_prime_UTR_variant BRCA-EU 18 54695920 54695920 single base substitution A G downstream_gene_variant BRCA-EU 18 54696865 54696865 single base substitution C T 3_prime_UTR_variant BRCA-EU 18 54696865 54696865 single base substitution C T downstream_gene_variant BRCA-EU 18 54698029 54698029 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 54698029 54698029 single base substitution G A downstream_gene_variant BRCA-EU 18 54698490 54698490 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 18 54698490 54698490 deletion of <=200bp T - downstream_gene_variant BRCA-EU 18 54699677 54699677 single base substitution G A downstream_gene_variant BRCA-EU 18 54701605 54701605 single base substitution G A downstream_gene_variant BRCA-EU 18 54703081 54703081 single base substitution T C downstream_gene_variant BRCA-FR 18 54316326 54316326 single base substitution C T upstream_gene_variant BRCA-FR 18 54327863 54327863 single base substitution T C intron_variant BRCA-FR 18 54331621 54331621 single base substitution G A intron_variant BRCA-FR 18 54337849 54337849 single base substitution C T intron_variant BRCA-FR 18 54345578 54345578 single base substitution C T intron_variant BRCA-FR 18 54371057 54371057 single base substitution C G intron_variant BRCA-FR 18 54372493 54372493 single base substitution C T intron_variant BRCA-FR 18 54378840 54378840 single base substitution C T intron_variant BRCA-FR 18 54388598 54388598 single base substitution G A intron_variant BRCA-FR 18 54388598 54388598 single base substitution G A upstream_gene_variant BRCA-FR 18 54398536 54398536 single base substitution C T intron_variant BRCA-FR 18 54421669 54421669 single base substitution C A intron_variant BRCA-FR 18 54421669 54421669 single base substitution C A upstream_gene_variant BRCA-FR 18 54421817 54421817 single base substitution C A intron_variant BRCA-FR 18 54421817 54421817 single base substitution C A upstream_gene_variant BRCA-FR 18 54422282 54422282 single base substitution C T intron_variant BRCA-FR 18 54422282 54422282 single base substitution C T upstream_gene_variant BRCA-FR 18 54422306 54422306 single base substitution C G intron_variant BRCA-FR 18 54422306 54422306 single base substitution C G upstream_gene_variant BRCA-FR 18 54422408 54422408 single base substitution C G intron_variant BRCA-FR 18 54422408 54422408 single base substitution C G upstream_gene_variant BRCA-FR 18 54422423 54422423 single base substitution C A intron_variant BRCA-FR 18 54422423 54422423 single base substitution C A upstream_gene_variant BRCA-FR 18 54422494 54422494 single base substitution C T intron_variant BRCA-FR 18 54422494 54422494 single base substitution C T upstream_gene_variant BRCA-FR 18 54435574 54435574 single base substitution C T intron_variant BRCA-FR 18 54440324 54440324 single base substitution T C intron_variant BRCA-FR 18 54450984 54450984 single base substitution C A downstream_gene_variant BRCA-FR 18 54450984 54450984 single base substitution C A intron_variant BRCA-FR 18 54451506 54451506 single base substitution C T downstream_gene_variant BRCA-FR 18 54451506 54451506 single base substitution C T intron_variant BRCA-FR 18 54471327 54471327 single base substitution C T intron_variant BRCA-FR 18 54472125 54472125 single base substitution G C intron_variant BRCA-FR 18 54511734 54511734 single base substitution A G intron_variant BRCA-FR 18 54512934 54512934 single base substitution G A intron_variant BRCA-FR 18 54523744 54523744 single base substitution G A intron_variant BRCA-FR 18 54529597 54529597 single base substitution G C intron_variant BRCA-FR 18 54560228 54560228 single base substitution G T intron_variant BRCA-FR 18 54567137 54567137 single base substitution T C intron_variant BRCA-FR 18 54568873 54568873 single base substitution G C intron_variant BRCA-FR 18 54574075 54574075 single base substitution C T intron_variant BRCA-FR 18 54585682 54585682 single base substitution G C intron_variant BRCA-FR 18 54593148 54593148 single base substitution G T intron_variant BRCA-FR 18 54593485 54593485 single base substitution C A intron_variant BRCA-FR 18 54621253 54621253 single base substitution G A intron_variant BRCA-FR 18 54626291 54626291 single base substitution T C intron_variant BRCA-FR 18 54626291 54626291 single base substitution T C upstream_gene_variant BRCA-FR 18 54635922 54635922 single base substitution C G intron_variant BRCA-FR 18 54659543 54659543 single base substitution A G intron_variant BRCA-FR 18 54666142 54666142 single base substitution C T intron_variant BRCA-FR 18 54693008 54693008 single base substitution G C downstream_gene_variant BRCA-FR 18 54693008 54693008 single base substitution G C intron_variant BRCA-UK 18 54320863 54320863 single base substitution C G intron_variant BRCA-UK 18 54370127 54370127 single base substitution C T intron_variant BRCA-UK 18 54398673 54398673 single base substitution G A intron_variant BRCA-UK 18 54398673 54398673 single base substitution G A missense_variant E14K 40G>A BRCA-UK 18 54398673 54398673 single base substitution G A missense_variant E33K 97G>A BRCA-UK 18 54398673 54398673 single base substitution G A missense_variant E612K 1834G>A BRCA-UK 18 54412175 54412175 single base substitution G A intron_variant BRCA-UK 18 54420945 54420945 single base substitution A C intron_variant BRCA-UK 18 54420945 54420945 single base substitution A C upstream_gene_variant BRCA-UK 18 54441660 54441660 single base substitution G T intron_variant BRCA-UK 18 54444525 54444525 single base substitution G T intron_variant BRCA-UK 18 54474030 54474030 single base substitution G A intron_variant BRCA-UK 18 54547027 54547027 single base substitution C T intron_variant BRCA-UK 18 54556823 54556823 single base substitution G C intron_variant BRCA-UK 18 54556823 54556823 single base substitution G C upstream_gene_variant BRCA-UK 18 54592285 54592285 single base substitution C T intron_variant BRCA-UK 18 54603085 54603085 single base substitution G A exon_variant BRCA-UK 18 54603085 54603085 single base substitution G A intron_variant BRCA-UK 18 54603085 54603085 single base substitution G A synonymous_variant S1227S 3681G>A BRCA-UK 18 54603085 54603085 single base substitution G A synonymous_variant S123S 369G>A BRCA-UK 18 54603085 54603085 single base substitution G A synonymous_variant S1260S 3780G>A BRCA-UK 18 54606623 54606623 single base substitution A T downstream_gene_variant BRCA-UK 18 54606623 54606623 single base substitution A T intron_variant BRCA-UK 18 54606623 54606623 single base substitution A T missense_variant R1322W 3964A>T BRCA-UK 18 54606623 54606623 single base substitution A T missense_variant R1355W 4063A>T BRCA-UK 18 54606623 54606623 single base substitution A T splice_region_variant BRCA-UK 18 54627830 54627830 single base substitution G C intron_variant BRCA-UK 18 54627830 54627830 single base substitution G C upstream_gene_variant BRCA-UK 18 54628377 54628377 single base substitution G C intron_variant BRCA-UK 18 54628377 54628377 single base substitution G C upstream_gene_variant BRCA-UK 18 54639302 54639302 single base substitution G C intron_variant BRCA-UK 18 54682968 54682968 single base substitution G A intron_variant BRCA-UK 18 54696865 54696865 single base substitution C T 3_prime_UTR_variant BRCA-UK 18 54696865 54696865 single base substitution C T downstream_gene_variant BRCA-US 18 54350050 54350050 single base substitution C T intron_variant BRCA-US 18 54350050 54350050 single base substitution C T synonymous_variant S162S 486C>T BRCA-US 18 54354174 54354174 single base substitution C T downstream_gene_variant BRCA-US 18 54354174 54354174 single base substitution C T intron_variant BRCA-US 18 54354174 54354174 single base substitution C T missense_variant S229L 686C>T BRCA-US 18 54354207 54354207 single base substitution T C downstream_gene_variant BRCA-US 18 54354207 54354207 single base substitution T C intron_variant BRCA-US 18 54354207 54354207 single base substitution T C splice_donor_variant BRCA-US 18 54362267 54362267 single base substitution G T exon_variant BRCA-US 18 54362267 54362267 single base substitution G T intron_variant BRCA-US 18 54362267 54362267 single base substitution G T missense_variant V399L 1195G>T BRCA-US 18 54385213 54385213 single base substitution A G intron_variant BRCA-US 18 54385213 54385213 single base substitution A G missense_variant I533V 1597A>G BRCA-US 18 54385213 54385213 single base substitution A G upstream_gene_variant BRCA-US 18 54385232 54385232 single base substitution A T intron_variant BRCA-US 18 54385232 54385232 single base substitution A T missense_variant D539V 1616A>T BRCA-US 18 54385232 54385232 single base substitution A T upstream_gene_variant BRCA-US 18 54424074 54424074 single base substitution C G downstream_gene_variant BRCA-US 18 54424074 54424074 single base substitution C G intron_variant BRCA-US 18 54424074 54424074 single base substitution C G missense_variant I152M 456C>G BRCA-US 18 54424074 54424074 single base substitution C G missense_variant I171M 513C>G BRCA-US 18 54424074 54424074 single base substitution C G missense_variant I750M 2250C>G BRCA-US 18 54424074 54424074 single base substitution C G upstream_gene_variant BRCA-US 18 54424178 54424178 single base substitution C G downstream_gene_variant BRCA-US 18 54424178 54424178 single base substitution C G intron_variant BRCA-US 18 54424178 54424178 single base substitution C G stop_gained S187* 560C>G BRCA-US 18 54424178 54424178 single base substitution C G stop_gained S785* 2354C>G BRCA-US 18 54424178 54424178 single base substitution C G upstream_gene_variant BRCA-US 18 54591305 54591305 single base substitution G T intron_variant BRCA-US 18 54591305 54591305 single base substitution G T stop_gained E1194* 3580G>T BRCA-US 18 54591305 54591305 single base substitution G T stop_gained E1227* 3679G>T BRCA-US 18 54591305 54591305 single base substitution G T stop_gained E90* 268G>T BRCA-US 18 54606599 54606599 single base substitution C T 3_prime_UTR_variant BRCA-US 18 54606599 54606599 single base substitution C T downstream_gene_variant BRCA-US 18 54606599 54606599 single base substitution C T intron_variant BRCA-US 18 54606599 54606599 single base substitution C T stop_gained Q1314* 3940C>T BRCA-US 18 54606599 54606599 single base substitution C T stop_gained Q1347* 4039C>T BRCA-US 18 54694261 54694261 single base substitution C T synonymous_variant I1399I 4197C>T BRCA-US 18 54694261 54694261 single base substitution C T synonymous_variant I1432I 4296C>T BRCA-US 18 54694261 54694261 single base substitution C T synonymous_variant I9I 27C>T BRCA-US 18 54694371 54694371 deletion of <=200bp T - frameshift_variant I1436 BRCA-US 18 54694371 54694371 deletion of <=200bp T - frameshift_variant I1469 BRCA-US 18 54694371 54694371 deletion of <=200bp T - frameshift_variant I46 BTCA-JP 18 54346756 54346756 single base substitution C T intron_variant BTCA-JP 18 54346757 54346757 single base substitution T C intron_variant BTCA-JP 18 54348439 54348439 single base substitution G A intron_variant BTCA-JP 18 54359024 54359024 single base substitution C T intron_variant BTCA-JP 18 54359024 54359024 single base substitution C T synonymous_variant I314I 942C>T BTCA-JP 18 54359024 54359024 single base substitution C T upstream_gene_variant BTCA-JP 18 54423846 54423846 single base substitution G C intron_variant BTCA-JP 18 54423846 54423846 single base substitution G C synonymous_variant L674L 2022G>C BTCA-JP 18 54423846 54423846 single base substitution G C synonymous_variant L76L 228G>C BTCA-JP 18 54423846 54423846 single base substitution G C synonymous_variant L95L 285G>C BTCA-JP 18 54423846 54423846 single base substitution G C upstream_gene_variant BTCA-JP 18 54483465 54483465 single base substitution C T intron_variant BTCA-JP 18 54629795 54629795 single base substitution C T intron_variant CESC-US 18 54350029 54350029 single base substitution G C intron_variant CESC-US 18 54350029 54350029 single base substitution G C missense_variant K155N 465G>C CESC-US 18 54354104 54354104 single base substitution G C downstream_gene_variant CESC-US 18 54354104 54354104 single base substitution G C intron_variant CESC-US 18 54354104 54354104 single base substitution G C missense_variant E206Q 616G>C CESC-US 18 54605880 54605880 single base substitution G C 3_prime_UTR_variant CESC-US 18 54605880 54605880 single base substitution G C intron_variant CESC-US 18 54605880 54605880 single base substitution G C missense_variant K1283N 3849G>C CESC-US 18 54605880 54605880 single base substitution G C missense_variant K1316N 3948G>C CESC-US 18 54605880 54605880 single base substitution G C missense_variant K179N 537G>C CESC-US 18 54605881 54605881 single base substitution A G 3_prime_UTR_variant CESC-US 18 54605881 54605881 single base substitution A G intron_variant CESC-US 18 54605881 54605881 single base substitution A G missense_variant M1284V 3850A>G CESC-US 18 54605881 54605881 single base substitution A G missense_variant M1317V 3949A>G CESC-US 18 54605881 54605881 single base substitution A G missense_variant M180V 538A>G CESC-US 18 54606544 54606544 single base substitution T A downstream_gene_variant CESC-US 18 54606544 54606544 single base substitution T A intron_variant CESC-US 18 54606544 54606544 single base substitution T A splice_region_variant CESC-US 18 54629743 54629743 single base substitution C T 3_prime_UTR_variant CESC-US 18 54629743 54629743 single base substitution C T intron_variant CESC-US 18 54629743 54629743 single base substitution C T missense_variant R1350W 4048C>T CESC-US 18 54629743 54629743 single base substitution C T missense_variant R1383W 4147C>T CESC-US 18 54629743 54629743 single base substitution C T missense_variant R26W 76C>T CESC-US 18 54694411 54694411 single base substitution C T synonymous_variant D1449D 4347C>T CESC-US 18 54694411 54694411 single base substitution C T synonymous_variant D1482D 4446C>T CESC-US 18 54694411 54694411 single base substitution C T synonymous_variant D59D 177C>T CLLE-ES 18 54324366 54324366 single base substitution T C intron_variant CLLE-ES 18 54344408 54344408 single base substitution G A intron_variant CLLE-ES 18 54351011 54351011 single base substitution G T downstream_gene_variant CLLE-ES 18 54351011 54351011 single base substitution G T intron_variant CLLE-ES 18 54378922 54378922 single base substitution G T intron_variant CLLE-ES 18 54389948 54389948 single base substitution G A intron_variant CLLE-ES 18 54402354 54402354 single base substitution G A intron_variant CLLE-ES 18 54418121 54418121 single base substitution A T intron_variant CLLE-ES 18 54419532 54419532 single base substitution G A intron_variant CLLE-ES 18 54446556 54446556 single base substitution T G intron_variant CLLE-ES 18 54454863 54454863 single base substitution T G intron_variant CLLE-ES 18 54470762 54470762 single base substitution G A intron_variant CLLE-ES 18 54474483 54474483 single base substitution T C intron_variant CLLE-ES 18 54495770 54495770 single base substitution T C intron_variant CLLE-ES 18 54520816 54520816 single base substitution C A intron_variant CLLE-ES 18 54522534 54522534 single base substitution G A intron_variant CLLE-ES 18 54556913 54556913 single base substitution A G intron_variant CLLE-ES 18 54556913 54556913 single base substitution A G upstream_gene_variant CLLE-ES 18 54559941 54559941 single base substitution T C intron_variant CLLE-ES 18 54563418 54563418 single base substitution C T intron_variant CLLE-ES 18 54580365 54580365 single base substitution G A intron_variant CLLE-ES 18 54668610 54668610 single base substitution A T intron_variant CLLE-ES 18 54694137 54694137 single base substitution A T intron_variant COAD-US 18 54339849 54339849 single base substitution G A intron_variant COAD-US 18 54339849 54339849 single base substitution G A missense_variant V35I 103G>A COAD-US 18 54358512 54358512 insertion of <=200bp - G frameshift_variant T261T? COAD-US 18 54358512 54358512 insertion of <=200bp - G intron_variant COAD-US 18 54358512 54358512 insertion of <=200bp - G upstream_gene_variant COAD-US 18 54358513 54358513 single base substitution G A intron_variant COAD-US 18 54358513 54358513 single base substitution G A missense_variant G262R 784G>A COAD-US 18 54358513 54358513 single base substitution G A upstream_gene_variant COAD-US 18 54385264 54385264 deletion of <=200bp A - frameshift_variant K550 COAD-US 18 54385264 54385264 deletion of <=200bp A - intron_variant COAD-US 18 54385264 54385264 deletion of <=200bp A - upstream_gene_variant COAD-US 18 54423872 54423872 single base substitution T C intron_variant COAD-US 18 54423872 54423872 single base substitution T C missense_variant L104P 311T>C COAD-US 18 54423872 54423872 single base substitution T C missense_variant L683P 2048T>C COAD-US 18 54423872 54423872 single base substitution T C missense_variant L85P 254T>C COAD-US 18 54423872 54423872 single base substitution T C upstream_gene_variant COAD-US 18 54423877 54423877 single base substitution G A intron_variant COAD-US 18 54423877 54423877 single base substitution G A missense_variant D106N 316G>A COAD-US 18 54423877 54423877 single base substitution G A missense_variant D685N 2053G>A COAD-US 18 54423877 54423877 single base substitution G A missense_variant D87N 259G>A COAD-US 18 54423877 54423877 single base substitution G A upstream_gene_variant COAD-US 18 54424391 54424391 single base substitution G A downstream_gene_variant COAD-US 18 54424391 54424391 single base substitution G A intron_variant COAD-US 18 54424391 54424391 single base substitution G A missense_variant C258Y 773G>A COAD-US 18 54424391 54424391 single base substitution G A missense_variant C856Y 2567G>A COAD-US 18 54424391 54424391 single base substitution G A upstream_gene_variant COAD-US 18 54448837 54448837 single base substitution T C exon_variant COAD-US 18 54448837 54448837 single base substitution T C intron_variant COAD-US 18 54448837 54448837 single base substitution T C missense_variant I1014T 3041T>C COAD-US 18 54448837 54448837 single base substitution T C missense_variant I1047T 3140T>C COAD-US 18 54448878 54448878 single base substitution G A exon_variant COAD-US 18 54448878 54448878 single base substitution G A intron_variant COAD-US 18 54448878 54448878 single base substitution G A missense_variant V1028I 3082G>A COAD-US 18 54448878 54448878 single base substitution G A missense_variant V1061I 3181G>A COAD-US 18 54483287 54483287 single base substitution G A intron_variant COAD-US 18 54483287 54483287 single base substitution G A synonymous_variant Q1039Q 3117G>A COAD-US 18 54483287 54483287 single base substitution G A synonymous_variant Q1072Q 3216G>A COAD-US 18 54591201 54591201 single base substitution C A intron_variant COAD-US 18 54591201 54591201 single base substitution C A missense_variant P1159H 3476C>A COAD-US 18 54591201 54591201 single base substitution C A missense_variant P1192H 3575C>A COAD-US 18 54591201 54591201 single base substitution C A missense_variant P55H 164C>A COAD-US 18 54591322 54591322 single base substitution C T intron_variant COAD-US 18 54591322 54591322 single base substitution C T synonymous_variant A1199A 3597C>T COAD-US 18 54591322 54591322 single base substitution C T synonymous_variant A1232A 3696C>T COAD-US 18 54591322 54591322 single base substitution C T synonymous_variant A95A 285C>T COAD-US 18 54603029 54603029 single base substitution G C intron_variant COAD-US 18 54603029 54603029 single base substitution G C missense_variant G105R 313G>C COAD-US 18 54603029 54603029 single base substitution G C missense_variant G1209R 3625G>C COAD-US 18 54603029 54603029 single base substitution G C missense_variant G1242R 3724G>C COAD-US 18 54603029 54603029 single base substitution G C upstream_gene_variant COAD-US 18 54603098 54603098 single base substitution G A exon_variant COAD-US 18 54603098 54603098 single base substitution G A intron_variant COAD-US 18 54603098 54603098 single base substitution G A missense_variant A1232T 3694G>A COAD-US 18 54603098 54603098 single base substitution G A missense_variant A1265T 3793G>A COAD-US 18 54603098 54603098 single base substitution G A missense_variant A128T 382G>A COCA-CN 18 54339888 54339888 single base substitution C A intron_variant COCA-CN 18 54339888 54339888 single base substitution C A missense_variant L48I 142C>A COCA-CN 18 54353058 54353058 single base substitution G T downstream_gene_variant COCA-CN 18 54353058 54353058 single base substitution G T intron_variant COCA-CN 18 54358334 54358334 single base substitution A G intron_variant COCA-CN 18 54358334 54358334 single base substitution A G upstream_gene_variant COCA-CN 18 54361895 54361895 single base substitution G T exon_variant COCA-CN 18 54361895 54361895 single base substitution G T intron_variant COCA-CN 18 54361895 54361895 single base substitution G T stop_gained E338* 1012G>T COCA-CN 18 54362477 54362477 single base substitution C A intron_variant COCA-CN 18 54363551 54363551 single base substitution G A exon_variant COCA-CN 18 54363551 54363551 single base substitution G A intron_variant COCA-CN 18 54363551 54363551 single base substitution G A missense_variant R479Q 1436G>A COCA-CN 18 54363564 54363564 single base substitution A C exon_variant COCA-CN 18 54363564 54363564 single base substitution A C intron_variant COCA-CN 18 54363564 54363564 single base substitution A C missense_variant R483S 1449A>C COCA-CN 18 54398804 54398804 single base substitution C A intron_variant COCA-CN 18 54398804 54398804 single base substitution C A synonymous_variant L57L 171C>A COCA-CN 18 54398804 54398804 single base substitution C A synonymous_variant L655L 1965C>A COCA-CN 18 54398804 54398804 single base substitution C A synonymous_variant L76L 228C>A COCA-CN 18 54398884 54398884 single base substitution T C intron_variant COCA-CN 18 54424187 54424187 single base substitution T C downstream_gene_variant COCA-CN 18 54424187 54424187 single base substitution T C intron_variant COCA-CN 18 54424187 54424187 single base substitution T C missense_variant L190S 569T>C COCA-CN 18 54424187 54424187 single base substitution T C missense_variant L788S 2363T>C COCA-CN 18 54424187 54424187 single base substitution T C upstream_gene_variant COCA-CN 18 54424511 54424511 single base substitution C A downstream_gene_variant COCA-CN 18 54424511 54424511 single base substitution C A intron_variant COCA-CN 18 54424511 54424511 single base substitution C A missense_variant S298Y 893C>A COCA-CN 18 54424511 54424511 single base substitution C A missense_variant S896Y 2687C>A COCA-CN 18 54424511 54424511 single base substitution C A upstream_gene_variant COCA-CN 18 54443862 54443862 single base substitution G T intron_variant COCA-CN 18 54448776 54448776 single base substitution G A exon_variant COCA-CN 18 54448776 54448776 single base substitution G A intron_variant COCA-CN 18 54448776 54448776 single base substitution G A missense_variant A1027T 3079G>A COCA-CN 18 54448776 54448776 single base substitution G A missense_variant A994T 2980G>A COCA-CN 18 54547221 54547221 single base substitution C T intron_variant COCA-CN 18 54547221 54547221 single base substitution C T synonymous_variant Y1084Y 3252C>T COCA-CN 18 54547221 54547221 single base substitution C T synonymous_variant Y1117Y 3351C>T COCA-CN 18 54547404 54547404 single base substitution T G intron_variant COCA-CN 18 54547404 54547404 single base substitution T G splice_region_variant COCA-CN 18 54591170 54591170 single base substitution C A intron_variant COCA-CN 18 54591170 54591170 single base substitution C A missense_variant L1149I 3445C>A COCA-CN 18 54591170 54591170 single base substitution C A missense_variant L1182I 3544C>A COCA-CN 18 54591170 54591170 single base substitution C A missense_variant L45I 133C>A COCA-CN 18 54687871 54687871 single base substitution C A intron_variant COCA-CN 18 54687948 54687948 single base substitution C A intron_variant EOPC-DE 18 54401755 54401755 single base substitution G A intron_variant EOPC-DE 18 54405186 54405186 single base substitution A T intron_variant EOPC-DE 18 54419352 54419352 single base substitution G A intron_variant EOPC-DE 18 54457211 54457211 single base substitution C A intron_variant EOPC-DE 18 54470879 54470879 single base substitution T A intron_variant EOPC-DE 18 54485528 54485528 single base substitution T C intron_variant EOPC-DE 18 54552826 54552826 single base substitution C T intron_variant EOPC-DE 18 54552830 54552830 single base substitution C T intron_variant EOPC-DE 18 54571013 54571013 single base substitution G A intron_variant EOPC-DE 18 54586215 54586215 single base substitution A G intron_variant EOPC-DE 18 54691877 54691877 single base substitution T C downstream_gene_variant EOPC-DE 18 54691877 54691877 single base substitution T C intron_variant EOPC-DE 18 54691880 54691880 single base substitution A G downstream_gene_variant EOPC-DE 18 54691880 54691880 single base substitution A G intron_variant ESAD-UK 18 54314270 54314270 single base substitution G A upstream_gene_variant ESAD-UK 18 54315302 54315302 single base substitution C A upstream_gene_variant ESAD-UK 18 54318489 54318489 single base substitution G T upstream_gene_variant ESAD-UK 18 54320436 54320436 single base substitution C T intron_variant ESAD-UK 18 54322155 54322155 single base substitution G A intron_variant ESAD-UK 18 54325585 54325585 single base substitution T G intron_variant ESAD-UK 18 54326422 54326422 insertion of <=200bp - AC intron_variant ESAD-UK 18 54326424 54326424 single base substitution C T intron_variant ESAD-UK 18 54326580 54326580 single base substitution C T intron_variant ESAD-UK 18 54330011 54330011 deletion of <=200bp A - intron_variant ESAD-UK 18 54330042 54330042 single base substitution A T intron_variant ESAD-UK 18 54330904 54330904 insertion of <=200bp - AT intron_variant ESAD-UK 18 54331571 54331571 single base substitution A C intron_variant ESAD-UK 18 54332416 54332416 single base substitution C T intron_variant ESAD-UK 18 54333694 54333694 single base substitution A G intron_variant ESAD-UK 18 54334883 54334883 single base substitution A G intron_variant ESAD-UK 18 54337749 54337749 single base substitution T G intron_variant ESAD-UK 18 54338357 54338357 single base substitution C A intron_variant ESAD-UK 18 54338611 54338611 single base substitution C T intron_variant ESAD-UK 18 54338889 54338889 deletion of <=200bp C - intron_variant ESAD-UK 18 54338976 54338976 single base substitution T A intron_variant ESAD-UK 18 54338978 54338978 single base substitution A T intron_variant ESAD-UK 18 54340147 54340147 single base substitution A C intron_variant ESAD-UK 18 54341588 54341588 single base substitution A G intron_variant ESAD-UK 18 54341949 54341949 single base substitution T C intron_variant ESAD-UK 18 54343958 54343958 single base substitution T G intron_variant ESAD-UK 18 54347759 54347759 single base substitution T G intron_variant ESAD-UK 18 54349576 54349576 single base substitution G A intron_variant ESAD-UK 18 54350460 54350460 single base substitution G T downstream_gene_variant ESAD-UK 18 54350460 54350460 single base substitution G T intron_variant ESAD-UK 18 54350830 54350830 single base substitution C A downstream_gene_variant ESAD-UK 18 54350830 54350830 single base substitution C A intron_variant ESAD-UK 18 54350913 54350913 single base substitution A T downstream_gene_variant ESAD-UK 18 54350913 54350913 single base substitution A T intron_variant ESAD-UK 18 54353601 54353601 insertion of <=200bp - A downstream_gene_variant ESAD-UK 18 54353601 54353601 insertion of <=200bp - A intron_variant ESAD-UK 18 54355658 54355658 deletion of <=200bp A - intron_variant ESAD-UK 18 54357240 54357240 single base substitution G T intron_variant ESAD-UK 18 54357240 54357240 single base substitution G T upstream_gene_variant ESAD-UK 18 54359385 54359385 single base substitution T C intron_variant ESAD-UK 18 54359385 54359385 single base substitution T C upstream_gene_variant ESAD-UK 18 54360594 54360594 single base substitution T G intron_variant ESAD-UK 18 54360594 54360594 single base substitution T G upstream_gene_variant ESAD-UK 18 54360731 54360731 single base substitution A G intron_variant ESAD-UK 18 54360731 54360731 single base substitution A G upstream_gene_variant ESAD-UK 18 54362247 54362247 single base substitution G C exon_variant ESAD-UK 18 54362247 54362247 single base substitution G C intron_variant ESAD-UK 18 54362247 54362247 single base substitution G C missense_variant G392A 1175G>C ESAD-UK 18 54363716 54363716 deletion of <=200bp T - exon_variant ESAD-UK 18 54363716 54363716 deletion of <=200bp T - intron_variant ESAD-UK 18 54366013 54366013 single base substitution T C downstream_gene_variant ESAD-UK 18 54366013 54366013 single base substitution T C intron_variant ESAD-UK 18 54367342 54367342 single base substitution A T downstream_gene_variant ESAD-UK 18 54367342 54367342 single base substitution A T intron_variant ESAD-UK 18 54368534 54368534 single base substitution G A downstream_gene_variant ESAD-UK 18 54368534 54368534 single base substitution G A intron_variant ESAD-UK 18 54371123 54371123 single base substitution A C intron_variant ESAD-UK 18 54371671 54371671 single base substitution G A intron_variant ESAD-UK 18 54371888 54371888 single base substitution T G intron_variant ESAD-UK 18 54372982 54372982 single base substitution C A intron_variant ESAD-UK 18 54373779 54373779 single base substitution C A intron_variant ESAD-UK 18 54374230 54374230 single base substitution T A intron_variant ESAD-UK 18 54379211 54379211 single base substitution G C intron_variant ESAD-UK 18 54379671 54379671 single base substitution A C intron_variant ESAD-UK 18 54379725 54379725 single base substitution T G intron_variant ESAD-UK 18 54380183 54380183 single base substitution G A intron_variant ESAD-UK 18 54387268 54387268 single base substitution T A intron_variant ESAD-UK 18 54387268 54387268 single base substitution T A upstream_gene_variant ESAD-UK 18 54387518 54387518 single base substitution A T intron_variant ESAD-UK 18 54387518 54387518 single base substitution A T upstream_gene_variant ESAD-UK 18 54390719 54390719 single base substitution A T intron_variant ESAD-UK 18 54391501 54391501 deletion of <=200bp G - intron_variant ESAD-UK 18 54391875 54391875 single base substitution T A intron_variant ESAD-UK 18 54394916 54394916 single base substitution G A intron_variant ESAD-UK 18 54395133 54395136 deletion of <=200bp TCTT - intron_variant ESAD-UK 18 54398846 54398846 single base substitution G A intron_variant ESAD-UK 18 54400316 54400316 single base substitution C T intron_variant ESAD-UK 18 54400481 54400481 single base substitution A C intron_variant ESAD-UK 18 54402597 54402597 single base substitution G A intron_variant ESAD-UK 18 54402920 54402920 single base substitution T C intron_variant ESAD-UK 18 54407523 54407523 single base substitution T A intron_variant ESAD-UK 18 54408033 54408033 insertion of <=200bp - C intron_variant ESAD-UK 18 54408297 54408297 single base substitution C T intron_variant ESAD-UK 18 54408767 54408767 single base substitution A G intron_variant ESAD-UK 18 54409035 54409035 single base substitution A C intron_variant ESAD-UK 18 54410940 54410940 single base substitution T C intron_variant ESAD-UK 18 54413907 54413907 single base substitution G A intron_variant ESAD-UK 18 54416324 54416324 single base substitution T A intron_variant ESAD-UK 18 54416389 54416389 single base substitution A C intron_variant ESAD-UK 18 54418559 54418559 single base substitution G A intron_variant ESAD-UK 18 54419781 54419781 single base substitution C G intron_variant ESAD-UK 18 54419781 54419781 single base substitution C G upstream_gene_variant ESAD-UK 18 54420028 54420028 single base substitution A G intron_variant ESAD-UK 18 54420028 54420028 single base substitution A G upstream_gene_variant ESAD-UK 18 54423995 54423995 single base substitution C G downstream_gene_variant ESAD-UK 18 54423995 54423995 single base substitution C G intron_variant ESAD-UK 18 54423995 54423995 single base substitution C G missense_variant S126C 377C>G ESAD-UK 18 54423995 54423995 single base substitution C G missense_variant S145C 434C>G ESAD-UK 18 54423995 54423995 single base substitution C G missense_variant S724C 2171C>G ESAD-UK 18 54423995 54423995 single base substitution C G upstream_gene_variant ESAD-UK 18 54428685 54428685 single base substitution A T downstream_gene_variant ESAD-UK 18 54428685 54428685 single base substitution A T intron_variant ESAD-UK 18 54429588 54429588 insertion of <=200bp - CATTTCTTT intron_variant ESAD-UK 18 54432690 54432690 single base substitution T C intron_variant ESAD-UK 18 54433879 54433879 single base substitution C T intron_variant ESAD-UK 18 54436997 54436997 single base substitution C G intron_variant ESAD-UK 18 54438807 54438807 single base substitution C A intron_variant ESAD-UK 18 54441592 54441592 single base substitution C T intron_variant ESAD-UK 18 54441892 54441892 single base substitution T A intron_variant ESAD-UK 18 54444513 54444513 single base substitution G C intron_variant ESAD-UK 18 54445622 54445622 deletion of <=200bp T - intron_variant ESAD-UK 18 54446118 54446118 single base substitution G T intron_variant ESAD-UK 18 54450405 54450405 deletion of <=200bp C - downstream_gene_variant ESAD-UK 18 54450405 54450405 deletion of <=200bp C - intron_variant ESAD-UK 18 54451486 54451486 single base substitution T A downstream_gene_variant ESAD-UK 18 54451486 54451486 single base substitution T A intron_variant ESAD-UK 18 54452560 54452560 single base substitution G A downstream_gene_variant ESAD-UK 18 54452560 54452560 single base substitution G A intron_variant ESAD-UK 18 54452720 54452720 single base substitution A T downstream_gene_variant ESAD-UK 18 54452720 54452720 single base substitution A T intron_variant ESAD-UK 18 54453277 54453277 single base substitution G A downstream_gene_variant ESAD-UK 18 54453277 54453277 single base substitution G A intron_variant ESAD-UK 18 54454984 54454984 single base substitution G A intron_variant ESAD-UK 18 54457745 54457745 single base substitution T G intron_variant ESAD-UK 18 54458093 54458093 single base substitution T A intron_variant ESAD-UK 18 54459369 54459369 single base substitution C A intron_variant ESAD-UK 18 54460034 54460034 single base substitution C T intron_variant ESAD-UK 18 54460694 54460694 single base substitution A G intron_variant ESAD-UK 18 54461643 54461643 deletion of <=200bp C - intron_variant ESAD-UK 18 54461789 54461789 single base substitution C T intron_variant ESAD-UK 18 54469310 54469310 single base substitution G A intron_variant ESAD-UK 18 54469361 54469361 insertion of <=200bp - T intron_variant ESAD-UK 18 54475982 54475982 single base substitution A C intron_variant ESAD-UK 18 54476191 54476191 single base substitution G A intron_variant ESAD-UK 18 54478930 54478930 single base substitution G T intron_variant ESAD-UK 18 54479481 54479481 deletion of <=200bp A - intron_variant ESAD-UK 18 54485829 54485829 single base substitution T C intron_variant ESAD-UK 18 54493941 54493941 single base substitution G T intron_variant ESAD-UK 18 54497524 54497524 single base substitution G T intron_variant ESAD-UK 18 54499431 54499431 single base substitution C T intron_variant ESAD-UK 18 54503902 54503902 single base substitution G T intron_variant ESAD-UK 18 54504595 54504595 single base substitution G A intron_variant ESAD-UK 18 54504921 54504921 single base substitution G A intron_variant ESAD-UK 18 54506249 54506249 single base substitution A C intron_variant ESAD-UK 18 54507194 54507194 single base substitution G A intron_variant ESAD-UK 18 54508339 54508339 single base substitution A G intron_variant ESAD-UK 18 54508832 54508832 single base substitution A G intron_variant ESAD-UK 18 54509586 54509586 single base substitution T A intron_variant ESAD-UK 18 54510000 54510000 single base substitution G A intron_variant ESAD-UK 18 54517561 54517561 single base substitution C T intron_variant ESAD-UK 18 54522088 54522088 single base substitution T A intron_variant ESAD-UK 18 54524693 54524693 single base substitution G T intron_variant ESAD-UK 18 54525202 54525202 single base substitution G A intron_variant ESAD-UK 18 54525408 54525408 single base substitution A T intron_variant ESAD-UK 18 54526122 54526122 single base substitution G T intron_variant ESAD-UK 18 54529008 54529008 single base substitution A G intron_variant ESAD-UK 18 54531860 54531860 single base substitution G A intron_variant ESAD-UK 18 54533746 54533746 insertion of <=200bp - T intron_variant ESAD-UK 18 54535318 54535318 single base substitution A C intron_variant ESAD-UK 18 54535913 54535913 single base substitution G A intron_variant ESAD-UK 18 54536392 54536392 single base substitution G A intron_variant ESAD-UK 18 54536536 54536537 deletion of <=200bp GG - intron_variant ESAD-UK 18 54536542 54536542 insertion of <=200bp - T intron_variant ESAD-UK 18 54540642 54540642 single base substitution T G intron_variant ESAD-UK 18 54541088 54541088 single base substitution C G intron_variant ESAD-UK 18 54541424 54541424 single base substitution G A intron_variant ESAD-UK 18 54544523 54544523 single base substitution A C intron_variant ESAD-UK 18 54544718 54544718 single base substitution G C intron_variant ESAD-UK 18 54545663 54545663 single base substitution C T intron_variant ESAD-UK 18 54545794 54545794 single base substitution G A intron_variant ESAD-UK 18 54547359 54547359 single base substitution T G intron_variant ESAD-UK 18 54547359 54547359 single base substitution T G synonymous_variant T1130T 3390T>G ESAD-UK 18 54547359 54547359 single base substitution T G synonymous_variant T1163T 3489T>G ESAD-UK 18 54548362 54548362 single base substitution C T intron_variant ESAD-UK 18 54548834 54548834 single base substitution T A intron_variant ESAD-UK 18 54549301 54549301 single base substitution G A intron_variant ESAD-UK 18 54549444 54549444 single base substitution A G intron_variant ESAD-UK 18 54552299 54552299 single base substitution C T intron_variant ESAD-UK 18 54555773 54555773 single base substitution G T intron_variant ESAD-UK 18 54555773 54555773 single base substitution G T upstream_gene_variant ESAD-UK 18 54556046 54556046 single base substitution C T intron_variant ESAD-UK 18 54556046 54556046 single base substitution C T upstream_gene_variant ESAD-UK 18 54561000 54561000 single base substitution G T intron_variant ESAD-UK 18 54561118 54561118 single base substitution A G intron_variant ESAD-UK 18 54563456 54563456 single base substitution T A intron_variant ESAD-UK 18 54566807 54566807 single base substitution T G intron_variant ESAD-UK 18 54568327 54568327 single base substitution G A intron_variant ESAD-UK 18 54570171 54570171 insertion of <=200bp - T intron_variant ESAD-UK 18 54570850 54570850 single base substitution C T intron_variant ESAD-UK 18 54575749 54575749 single base substitution G A intron_variant ESAD-UK 18 54575865 54575865 single base substitution T A intron_variant ESAD-UK 18 54580513 54580513 single base substitution G A intron_variant ESAD-UK 18 54581361 54581361 single base substitution C T intron_variant ESAD-UK 18 54581881 54581881 deletion of <=200bp T - intron_variant ESAD-UK 18 54583877 54583877 single base substitution A C intron_variant ESAD-UK 18 54584353 54584353 single base substitution G A intron_variant ESAD-UK 18 54584446 54584446 single base substitution G A intron_variant ESAD-UK 18 54587546 54587546 single base substitution G C intron_variant ESAD-UK 18 54588671 54588671 single base substitution G A intron_variant ESAD-UK 18 54591048 54591048 single base substitution A T intron_variant ESAD-UK 18 54592777 54592777 single base substitution G A intron_variant ESAD-UK 18 54596058 54596058 deletion of <=200bp A - intron_variant ESAD-UK 18 54597052 54597052 single base substitution A G intron_variant ESAD-UK 18 54599521 54599521 single base substitution C A intron_variant ESAD-UK 18 54599521 54599521 single base substitution C A upstream_gene_variant ESAD-UK 18 54601306 54601306 single base substitution G C intron_variant ESAD-UK 18 54601306 54601306 single base substitution G C upstream_gene_variant ESAD-UK 18 54601828 54601828 single base substitution C T intron_variant ESAD-UK 18 54601828 54601828 single base substitution C T upstream_gene_variant ESAD-UK 18 54603143 54603143 single base substitution G A intron_variant ESAD-UK 18 54603143 54603143 single base substitution G A splice_region_variant ESAD-UK 18 54604216 54604216 insertion of <=200bp - T intron_variant ESAD-UK 18 54605863 54605863 single base substitution G T 3_prime_UTR_variant ESAD-UK 18 54605863 54605863 single base substitution G T intron_variant ESAD-UK 18 54605863 54605863 single base substitution G T stop_gained E1278* 3832G>T ESAD-UK 18 54605863 54605863 single base substitution G T stop_gained E1311* 3931G>T ESAD-UK 18 54605863 54605863 single base substitution G T stop_gained E174* 520G>T ESAD-UK 18 54611831 54611831 single base substitution C G intron_variant ESAD-UK 18 54613530 54613530 single base substitution G C intron_variant ESAD-UK 18 54617036 54617036 insertion of <=200bp - T intron_variant ESAD-UK 18 54622272 54622272 single base substitution G T intron_variant ESAD-UK 18 54623740 54623740 single base substitution A G intron_variant ESAD-UK 18 54625196 54625196 single base substitution T C intron_variant ESAD-UK 18 54625196 54625196 single base substitution T C upstream_gene_variant ESAD-UK 18 54626210 54626210 single base substitution C T intron_variant ESAD-UK 18 54626210 54626210 single base substitution C T upstream_gene_variant ESAD-UK 18 54626497 54626497 single base substitution G A intron_variant ESAD-UK 18 54626497 54626497 single base substitution G A upstream_gene_variant ESAD-UK 18 54626536 54626536 single base substitution T C intron_variant ESAD-UK 18 54626536 54626536 single base substitution T C upstream_gene_variant ESAD-UK 18 54626893 54626893 single base substitution T G intron_variant ESAD-UK 18 54626893 54626893 single base substitution T G upstream_gene_variant ESAD-UK 18 54627712 54627712 single base substitution A G intron_variant ESAD-UK 18 54627712 54627712 single base substitution A G upstream_gene_variant ESAD-UK 18 54629045 54629045 single base substitution G A intron_variant ESAD-UK 18 54629045 54629045 single base substitution G A upstream_gene_variant ESAD-UK 18 54629353 54629353 single base substitution T G intron_variant ESAD-UK 18 54629353 54629353 single base substitution T G upstream_gene_variant ESAD-UK 18 54635154 54635154 deletion of <=200bp A - intron_variant ESAD-UK 18 54635849 54635849 single base substitution G A intron_variant ESAD-UK 18 54635936 54635936 single base substitution C G intron_variant ESAD-UK 18 54636508 54636508 single base substitution T G intron_variant ESAD-UK 18 54636975 54636975 single base substitution A C intron_variant ESAD-UK 18 54638459 54638459 single base substitution G A intron_variant ESAD-UK 18 54639815 54639815 single base substitution A C intron_variant ESAD-UK 18 54643773 54643773 single base substitution G A intron_variant ESAD-UK 18 54644949 54644949 single base substitution A G intron_variant ESAD-UK 18 54650159 54650159 single base substitution T G intron_variant ESAD-UK 18 54650788 54650788 insertion of <=200bp - AC intron_variant ESAD-UK 18 54656249 54656249 single base substitution T G intron_variant ESAD-UK 18 54658778 54658778 deletion of <=200bp A - intron_variant ESAD-UK 18 54662318 54662318 single base substitution G C intron_variant ESAD-UK 18 54666289 54666289 single base substitution A C intron_variant ESAD-UK 18 54667144 54667144 single base substitution C T intron_variant ESAD-UK 18 54671263 54671263 single base substitution C T intron_variant ESAD-UK 18 54671544 54671544 single base substitution G A intron_variant ESAD-UK 18 54674999 54674999 single base substitution T G intron_variant ESAD-UK 18 54677076 54677076 single base substitution A G intron_variant ESAD-UK 18 54677076 54677076 single base substitution A G missense_variant Y34C 101A>G ESAD-UK 18 54678728 54678728 single base substitution T C downstream_gene_variant ESAD-UK 18 54678728 54678728 single base substitution T C intron_variant ESAD-UK 18 54679163 54679163 single base substitution A C downstream_gene_variant ESAD-UK 18 54679163 54679163 single base substitution A C intron_variant ESAD-UK 18 54680184 54680184 single base substitution G A downstream_gene_variant ESAD-UK 18 54680184 54680184 single base substitution G A intron_variant ESAD-UK 18 54681750 54681750 single base substitution G T downstream_gene_variant ESAD-UK 18 54681750 54681750 single base substitution G T intron_variant ESAD-UK 18 54683124 54683124 single base substitution T C intron_variant ESAD-UK 18 54683277 54683277 single base substitution G A intron_variant ESAD-UK 18 54683488 54683488 single base substitution C T intron_variant ESAD-UK 18 54685648 54685648 single base substitution A G intron_variant ESAD-UK 18 54688505 54688505 single base substitution G A downstream_gene_variant ESAD-UK 18 54688505 54688505 single base substitution G A intron_variant ESAD-UK 18 54688547 54688547 single base substitution A T downstream_gene_variant ESAD-UK 18 54688547 54688547 single base substitution A T intron_variant ESAD-UK 18 54691647 54691647 single base substitution G A downstream_gene_variant ESAD-UK 18 54691647 54691647 single base substitution G A intron_variant ESAD-UK 18 54701005 54701005 single base substitution G T downstream_gene_variant ESAD-UK 18 54702880 54702880 single base substitution G C downstream_gene_variant ESCA-CN 18 54385350 54385350 single base substitution G C intron_variant ESCA-CN 18 54385350 54385350 single base substitution G C synonymous_variant G578G 1734G>C ESCA-CN 18 54385350 54385350 single base substitution G C upstream_gene_variant ESCA-CN 18 54426134 54426134 single base substitution G A downstream_gene_variant ESCA-CN 18 54426134 54426134 single base substitution G A exon_variant ESCA-CN 18 54426134 54426134 single base substitution G A intron_variant ESCA-CN 18 54426134 54426134 single base substitution G A missense_variant R933K 2798G>A GACA-CN 18 54358971 54358971 single base substitution C T intron_variant GACA-CN 18 54358971 54358971 single base substitution C T missense_variant R297C 889C>T GACA-CN 18 54358971 54358971 single base substitution C T upstream_gene_variant GBM-US 18 54694330 54694330 single base substitution G A synonymous_variant A1422A 4266G>A GBM-US 18 54694330 54694330 single base substitution G A synonymous_variant A1455A 4365G>A GBM-US 18 54694330 54694330 single base substitution G A synonymous_variant A32A 96G>A KIRC-US 18 54424323 54424323 single base substitution A G downstream_gene_variant KIRC-US 18 54424323 54424323 single base substitution A G intron_variant KIRC-US 18 54424323 54424323 single base substitution A G synonymous_variant V235V 705A>G KIRC-US 18 54424323 54424323 single base substitution A G synonymous_variant V833V 2499A>G KIRC-US 18 54424323 54424323 single base substitution A G upstream_gene_variant LAML-KR 18 54363747 54363747 single base substitution A G downstream_gene_variant LAML-KR 18 54363747 54363747 single base substitution A G intron_variant LAML-KR 18 54375281 54375281 single base substitution C T intron_variant LAML-KR 18 54691820 54691820 single base substitution T A downstream_gene_variant LAML-KR 18 54691820 54691820 single base substitution T A intron_variant LAML-KR 18 54692056 54692056 single base substitution A G downstream_gene_variant LAML-KR 18 54692056 54692056 single base substitution A G intron_variant LAML-KR 18 54694151 54694151 single base substitution A G intron_variant LGG-US 18 54424326 54424326 single base substitution G A downstream_gene_variant LGG-US 18 54424326 54424326 single base substitution G A intron_variant LGG-US 18 54424326 54424326 single base substitution G A synonymous_variant S236S 708G>A LGG-US 18 54424326 54424326 single base substitution G A synonymous_variant S834S 2502G>A LGG-US 18 54424326 54424326 single base substitution G A upstream_gene_variant LGG-US 18 54446754 54446754 single base substitution C T exon_variant LGG-US 18 54446754 54446754 single base substitution C T intron_variant LGG-US 18 54446754 54446754 single base substitution C T stop_gained R1014* 3040C>T LGG-US 18 54446754 54446754 single base substitution C T stop_gained R981* 2941C>T LICA-CN 18 54423873 54423873 single base substitution A T intron_variant LICA-CN 18 54423873 54423873 single base substitution A T synonymous_variant L104L 312A>T LICA-CN 18 54423873 54423873 single base substitution A T synonymous_variant L683L 2049A>T LICA-CN 18 54423873 54423873 single base substitution A T synonymous_variant L85L 255A>T LICA-CN 18 54423873 54423873 single base substitution A T upstream_gene_variant LICA-FR 18 54361769 54361769 single base substitution A G intron_variant LICA-FR 18 54361769 54361769 single base substitution A G upstream_gene_variant LICA-FR 18 54363643 54363643 single base substitution G A exon_variant LICA-FR 18 54363643 54363643 single base substitution G A intron_variant LICA-FR 18 54363643 54363643 single base substitution G A missense_variant V510I 1528G>A LICA-FR 18 54365706 54365706 single base substitution A G downstream_gene_variant LICA-FR 18 54365706 54365706 single base substitution A G intron_variant LICA-FR 18 54368137 54368137 single base substitution G C downstream_gene_variant LICA-FR 18 54368137 54368137 single base substitution G C intron_variant LICA-FR 18 54395448 54395448 single base substitution C A intron_variant LICA-FR 18 54399416 54399416 single base substitution A C intron_variant LICA-FR 18 54401756 54401756 deletion of <=200bp A - intron_variant LICA-FR 18 54404867 54404867 single base substitution G A intron_variant LICA-FR 18 54405537 54405537 single base substitution A C intron_variant LICA-FR 18 54421518 54421518 single base substitution A G intron_variant LICA-FR 18 54421518 54421518 single base substitution A G upstream_gene_variant LICA-FR 18 54424443 54424443 single base substitution G A downstream_gene_variant LICA-FR 18 54424443 54424443 single base substitution G A intron_variant LICA-FR 18 54424443 54424443 single base substitution G A synonymous_variant E275E 825G>A LICA-FR 18 54424443 54424443 single base substitution G A synonymous_variant E873E 2619G>A LICA-FR 18 54424443 54424443 single base substitution G A upstream_gene_variant LICA-FR 18 54453062 54453062 insertion of <=200bp - TT downstream_gene_variant LICA-FR 18 54453062 54453062 insertion of <=200bp - TT intron_variant LICA-FR 18 54455419 54455419 single base substitution A G intron_variant LICA-FR 18 54497156 54497156 single base substitution A G intron_variant LICA-FR 18 54511089 54511089 deletion of <=200bp T - intron_variant LICA-FR 18 54538827 54538827 single base substitution T G intron_variant LICA-FR 18 54582546 54582546 single base substitution A T intron_variant LICA-FR 18 54587202 54587218 deletion of <=200bp TGGCATATAAGGCCCTT - intron_variant LICA-FR 18 54616686 54616686 single base substitution T A intron_variant LICA-FR 18 54616864 54616864 single base substitution A G intron_variant LICA-FR 18 54644683 54644683 single base substitution A G intron_variant LICA-FR 18 54653360 54653377 deletion of <=200bp TGTGTGTGTGTGTGTGTG - intron_variant LICA-FR 18 54681564 54681564 insertion of <=200bp - A downstream_gene_variant LICA-FR 18 54681564 54681564 insertion of <=200bp - A intron_variant LICA-FR 18 54691889 54691889 single base substitution T A downstream_gene_variant LICA-FR 18 54691889 54691889 single base substitution T A intron_variant LICA-FR 18 54691949 54691949 single base substitution G A downstream_gene_variant LICA-FR 18 54691949 54691949 single base substitution G A intron_variant LICA-FR 18 54698111 54698112 deletion of <=200bp AA - 3_prime_UTR_variant LICA-FR 18 54698111 54698112 deletion of <=200bp AA - downstream_gene_variant LICA-FR 18 54698334 54698334 single base substitution T G 3_prime_UTR_variant LICA-FR 18 54698334 54698334 single base substitution T G downstream_gene_variant LIHC-US 18 54349915 54349915 deletion of <=200bp C - frameshift_variant Y117 LIHC-US 18 54349915 54349915 deletion of <=200bp C - intron_variant LIHC-US 18 54358487 54358487 single base substitution C G intron_variant LIHC-US 18 54358487 54358487 single base substitution C G missense_variant P253R 758C>G LIHC-US 18 54358487 54358487 single base substitution C G upstream_gene_variant LIHC-US 18 54358525 54358525 single base substitution G A intron_variant LIHC-US 18 54358525 54358525 single base substitution G A missense_variant V266I 796G>A LIHC-US 18 54358525 54358525 single base substitution G A upstream_gene_variant LIHC-US 18 54362254 54362254 single base substitution A G exon_variant LIHC-US 18 54362254 54362254 single base substitution A G intron_variant LIHC-US 18 54362254 54362254 single base substitution A G missense_variant I394M 1182A>G LIHC-US 18 54483320 54483320 single base substitution T C intron_variant LIHC-US 18 54483320 54483320 single base substitution T C synonymous_variant P1050P 3150T>C LIHC-US 18 54483320 54483320 single base substitution T C synonymous_variant P1083P 3249T>C LINC-JP 18 54315227 54315227 single base substitution G A upstream_gene_variant LINC-JP 18 54321160 54321160 single base substitution A G intron_variant LINC-JP 18 54324500 54324500 single base substitution T A intron_variant LINC-JP 18 54328560 54328560 single base substitution C T intron_variant LINC-JP 18 54330284 54330284 single base substitution G T intron_variant LINC-JP 18 54356809 54356809 single base substitution A G intron_variant LINC-JP 18 54357507 54357507 single base substitution A G intron_variant LINC-JP 18 54357507 54357507 single base substitution A G upstream_gene_variant LINC-JP 18 54368085 54368085 single base substitution A G downstream_gene_variant LINC-JP 18 54368085 54368085 single base substitution A G intron_variant LINC-JP 18 54368348 54368348 single base substitution T C downstream_gene_variant LINC-JP 18 54368348 54368348 single base substitution T C intron_variant LINC-JP 18 54377253 54377253 single base substitution G T intron_variant LINC-JP 18 54385352 54385352 single base substitution G A intron_variant LINC-JP 18 54385352 54385352 single base substitution G A missense_variant C579Y 1736G>A LINC-JP 18 54385352 54385352 single base substitution G A upstream_gene_variant LINC-JP 18 54402158 54402158 single base substitution A G intron_variant LINC-JP 18 54433037 54433037 single base substitution C G intron_variant LINC-JP 18 54436833 54436833 single base substitution A G intron_variant LINC-JP 18 54441221 54441221 insertion of <=200bp - T intron_variant LINC-JP 18 54444084 54444084 single base substitution T C intron_variant LINC-JP 18 54444084 54444084 single base substitution T C synonymous_variant L974L 2920T>C LINC-JP 18 54451051 54451051 single base substitution A G downstream_gene_variant LINC-JP 18 54451051 54451051 single base substitution A G intron_variant LINC-JP 18 54453107 54453107 single base substitution G A downstream_gene_variant LINC-JP 18 54453107 54453107 single base substitution G A intron_variant LINC-JP 18 54457036 54457036 single base substitution A T intron_variant LINC-JP 18 54457873 54457873 single base substitution C A intron_variant LINC-JP 18 54468353 54468353 single base substitution C T intron_variant LINC-JP 18 54486802 54486802 single base substitution A G intron_variant LINC-JP 18 54505969 54505969 single base substitution A G intron_variant LINC-JP 18 54516002 54516002 single base substitution A G intron_variant LINC-JP 18 54535278 54535278 single base substitution A G intron_variant LINC-JP 18 54544817 54544817 single base substitution A G intron_variant LINC-JP 18 54553286 54553286 single base substitution A G intron_variant LINC-JP 18 54553286 54553286 single base substitution A G upstream_gene_variant LINC-JP 18 54553326 54553326 single base substitution A G intron_variant LINC-JP 18 54553326 54553326 single base substitution A G upstream_gene_variant LINC-JP 18 54559726 54559726 single base substitution A G intron_variant LINC-JP 18 54588388 54588388 single base substitution C G intron_variant LINC-JP 18 54612576 54612576 single base substitution A G intron_variant LINC-JP 18 54616685 54616685 single base substitution G T intron_variant LINC-JP 18 54618482 54618482 single base substitution A G intron_variant LINC-JP 18 54632687 54632687 deletion of <=200bp T - intron_variant LINC-JP 18 54654545 54654545 single base substitution T G intron_variant LINC-JP 18 54655868 54655868 single base substitution A G intron_variant LINC-JP 18 54667338 54667338 single base substitution A G intron_variant LINC-JP 18 54687989 54687989 single base substitution A G 3_prime_UTR_variant LINC-JP 18 54687989 54687989 single base substitution A G intron_variant LINC-JP 18 54687989 54687989 single base substitution A G missense_variant H1360R 4079A>G LINC-JP 18 54687989 54687989 single base substitution A G missense_variant H1393R 4178A>G LINC-JP 18 54689472 54689472 insertion of <=200bp - T downstream_gene_variant LINC-JP 18 54689472 54689472 insertion of <=200bp - T intron_variant LINC-JP 18 54694971 54694971 single base substitution A G 3_prime_UTR_variant LINC-JP 18 54694971 54694971 single base substitution A G downstream_gene_variant LIRI-JP 18 54316270 54316270 single base substitution G C upstream_gene_variant LIRI-JP 18 54322597 54322597 single base substitution C T intron_variant LIRI-JP 18 54326664 54326664 single base substitution A G intron_variant LIRI-JP 18 54327951 54327951 single base substitution A G intron_variant LIRI-JP 18 54328523 54328523 single base substitution A G intron_variant LIRI-JP 18 54329018 54329018 single base substitution G A intron_variant LIRI-JP 18 54331357 54331357 single base substitution T A intron_variant LIRI-JP 18 54333959 54333959 single base substitution G T intron_variant LIRI-JP 18 54335956 54335956 single base substitution C A intron_variant LIRI-JP 18 54335965 54335965 single base substitution A G intron_variant LIRI-JP 18 54336716 54336716 deletion of <=200bp T - intron_variant LIRI-JP 18 54337079 54337079 single base substitution A G intron_variant LIRI-JP 18 54338104 54338104 single base substitution A T intron_variant LIRI-JP 18 54339495 54339495 single base substitution G A intron_variant LIRI-JP 18 54341356 54341356 single base substitution G T intron_variant LIRI-JP 18 54347959 54347959 single base substitution A G intron_variant LIRI-JP 18 54351566 54351566 single base substitution T C downstream_gene_variant LIRI-JP 18 54351566 54351566 single base substitution T C intron_variant LIRI-JP 18 54352648 54352648 single base substitution A G downstream_gene_variant LIRI-JP 18 54352648 54352648 single base substitution A G intron_variant LIRI-JP 18 54352911 54352911 single base substitution T G downstream_gene_variant LIRI-JP 18 54352911 54352911 single base substitution T G intron_variant LIRI-JP 18 54353684 54353684 single base substitution G C downstream_gene_variant LIRI-JP 18 54353684 54353684 single base substitution G C intron_variant LIRI-JP 18 54357068 54357068 single base substitution A G intron_variant LIRI-JP 18 54357068 54357068 single base substitution A G upstream_gene_variant LIRI-JP 18 54361263 54361263 single base substitution G A intron_variant LIRI-JP 18 54361263 54361263 single base substitution G A upstream_gene_variant LIRI-JP 18 54361959 54361959 single base substitution C G exon_variant LIRI-JP 18 54361959 54361959 single base substitution C G intron_variant LIRI-JP 18 54361959 54361959 single base substitution C G stop_gained S359* 1076C>G LIRI-JP 18 54363528 54363528 single base substitution A G exon_variant LIRI-JP 18 54363528 54363528 single base substitution A G intron_variant LIRI-JP 18 54363528 54363528 single base substitution A G synonymous_variant L471L 1413A>G LIRI-JP 18 54363570 54363570 single base substitution G T exon_variant LIRI-JP 18 54363570 54363570 single base substitution G T intron_variant LIRI-JP 18 54363570 54363570 single base substitution G T synonymous_variant L485L 1455G>T LIRI-JP 18 54365690 54365690 single base substitution A G downstream_gene_variant LIRI-JP 18 54365690 54365690 single base substitution A G intron_variant LIRI-JP 18 54367213 54367213 single base substitution A C downstream_gene_variant LIRI-JP 18 54367213 54367213 single base substitution A C intron_variant LIRI-JP 18 54368953 54368953 single base substitution A G intron_variant LIRI-JP 18 54370555 54370555 single base substitution A G intron_variant LIRI-JP 18 54371678 54371678 single base substitution G A intron_variant LIRI-JP 18 54372255 54372255 single base substitution A T intron_variant LIRI-JP 18 54373185 54373185 single base substitution C T intron_variant LIRI-JP 18 54378127 54378127 single base substitution A G intron_variant LIRI-JP 18 54378142 54378142 single base substitution A T intron_variant LIRI-JP 18 54380229 54380229 single base substitution G C intron_variant LIRI-JP 18 54381594 54381594 single base substitution A T intron_variant LIRI-JP 18 54381941 54381941 single base substitution G A intron_variant LIRI-JP 18 54383628 54383628 single base substitution A G intron_variant LIRI-JP 18 54385226 54385226 single base substitution C A intron_variant LIRI-JP 18 54385226 54385226 single base substitution C A missense_variant A537D 1610C>A LIRI-JP 18 54385226 54385226 single base substitution C A upstream_gene_variant LIRI-JP 18 54385665 54385665 single base substitution A C intron_variant LIRI-JP 18 54385665 54385665 single base substitution A C upstream_gene_variant LIRI-JP 18 54388663 54388663 single base substitution C T intron_variant LIRI-JP 18 54388663 54388663 single base substitution C T upstream_gene_variant LIRI-JP 18 54389304 54389304 single base substitution A T intron_variant LIRI-JP 18 54390159 54390159 single base substitution C T intron_variant LIRI-JP 18 54391835 54391835 single base substitution C T intron_variant LIRI-JP 18 54394694 54394694 single base substitution G T intron_variant LIRI-JP 18 54395583 54395583 single base substitution A G intron_variant LIRI-JP 18 54400201 54400201 single base substitution A G intron_variant LIRI-JP 18 54400943 54400943 single base substitution A G intron_variant LIRI-JP 18 54402249 54402249 single base substitution G T intron_variant LIRI-JP 18 54402756 54402756 single base substitution A G intron_variant LIRI-JP 18 54403983 54403983 single base substitution T A intron_variant LIRI-JP 18 54404476 54404476 single base substitution A G intron_variant LIRI-JP 18 54412813 54412813 single base substitution A G intron_variant LIRI-JP 18 54412821 54412821 single base substitution G T intron_variant LIRI-JP 18 54413298 54413298 single base substitution C T intron_variant LIRI-JP 18 54414253 54414253 single base substitution G C intron_variant LIRI-JP 18 54414391 54414391 single base substitution G A intron_variant LIRI-JP 18 54422219 54422219 single base substitution A G intron_variant LIRI-JP 18 54422219 54422219 single base substitution A G upstream_gene_variant LIRI-JP 18 54423075 54423075 single base substitution G A intron_variant LIRI-JP 18 54423075 54423075 single base substitution G A upstream_gene_variant LIRI-JP 18 54425257 54425257 single base substitution G T downstream_gene_variant LIRI-JP 18 54425257 54425257 single base substitution G T intron_variant LIRI-JP 18 54425508 54425508 single base substitution A G downstream_gene_variant LIRI-JP 18 54425508 54425508 single base substitution A G intron_variant LIRI-JP 18 54426017 54426017 single base substitution A G downstream_gene_variant LIRI-JP 18 54426017 54426017 single base substitution A G intron_variant LIRI-JP 18 54426855 54426855 single base substitution G T downstream_gene_variant LIRI-JP 18 54426855 54426855 single base substitution G T intron_variant LIRI-JP 18 54427178 54427178 single base substitution A G downstream_gene_variant LIRI-JP 18 54427178 54427178 single base substitution A G intron_variant LIRI-JP 18 54427186 54427186 single base substitution C T downstream_gene_variant LIRI-JP 18 54427186 54427186 single base substitution C T intron_variant LIRI-JP 18 54428590 54428590 single base substitution A G downstream_gene_variant LIRI-JP 18 54428590 54428590 single base substitution A G intron_variant LIRI-JP 18 54430619 54430619 single base substitution A G intron_variant LIRI-JP 18 54430939 54430939 single base substitution G A intron_variant LIRI-JP 18 54432069 54432069 single base substitution A G intron_variant LIRI-JP 18 54432597 54432597 single base substitution C T intron_variant LIRI-JP 18 54434470 54434470 single base substitution C T intron_variant LIRI-JP 18 54435892 54435892 single base substitution A G intron_variant LIRI-JP 18 54436979 54436979 single base substitution G T intron_variant LIRI-JP 18 54438366 54438366 single base substitution A G intron_variant LIRI-JP 18 54439577 54439577 single base substitution G T intron_variant LIRI-JP 18 54439967 54439967 single base substitution A G intron_variant LIRI-JP 18 54440629 54440629 single base substitution G T intron_variant LIRI-JP 18 54441751 54441751 single base substitution A T intron_variant LIRI-JP 18 54442703 54442703 single base substitution T C intron_variant LIRI-JP 18 54445149 54445149 single base substitution T A intron_variant LIRI-JP 18 54447058 54447058 single base substitution C T intron_variant LIRI-JP 18 54447165 54447165 single base substitution A G intron_variant LIRI-JP 18 54448959 54448959 single base substitution A G exon_variant LIRI-JP 18 54448959 54448959 single base substitution A G intron_variant LIRI-JP 18 54449507 54449507 single base substitution A G downstream_gene_variant LIRI-JP 18 54449507 54449507 single base substitution A G intron_variant LIRI-JP 18 54450321 54450321 single base substitution A G downstream_gene_variant LIRI-JP 18 54450321 54450321 single base substitution A G intron_variant LIRI-JP 18 54451339 54451339 single base substitution C T downstream_gene_variant LIRI-JP 18 54451339 54451339 single base substitution C T intron_variant LIRI-JP 18 54455071 54455071 single base substitution G T intron_variant LIRI-JP 18 54456464 54456464 single base substitution C T intron_variant LIRI-JP 18 54456477 54456477 single base substitution T A intron_variant LIRI-JP 18 54458457 54458457 single base substitution C A intron_variant LIRI-JP 18 54458487 54458487 single base substitution A G intron_variant LIRI-JP 18 54459605 54459605 single base substitution A C intron_variant LIRI-JP 18 54460193 54460193 deletion of <=200bp T - intron_variant LIRI-JP 18 54460604 54460604 single base substitution G A intron_variant LIRI-JP 18 54462313 54462313 single base substitution T C intron_variant LIRI-JP 18 54463502 54463502 single base substitution T A intron_variant LIRI-JP 18 54463594 54463594 single base substitution A G intron_variant LIRI-JP 18 54464679 54464682 deletion of <=200bp TGAA - intron_variant LIRI-JP 18 54465913 54465913 single base substitution A C intron_variant LIRI-JP 18 54469242 54469242 single base substitution A G intron_variant LIRI-JP 18 54474319 54474319 single base substitution G A intron_variant LIRI-JP 18 54474658 54474658 single base substitution C A intron_variant LIRI-JP 18 54474681 54474681 single base substitution A T intron_variant LIRI-JP 18 54477046 54477046 single base substitution A C intron_variant LIRI-JP 18 54478162 54478162 single base substitution A G intron_variant LIRI-JP 18 54479530 54479530 single base substitution G A intron_variant LIRI-JP 18 54480998 54480998 single base substitution A G intron_variant LIRI-JP 18 54484934 54484934 single base substitution G C intron_variant LIRI-JP 18 54486950 54486950 single base substitution G T intron_variant LIRI-JP 18 54489109 54489109 single base substitution G T intron_variant LIRI-JP 18 54497193 54497193 single base substitution A G intron_variant LIRI-JP 18 54498470 54498470 single base substitution A G intron_variant LIRI-JP 18 54503236 54503236 single base substitution C T intron_variant LIRI-JP 18 54503671 54503671 single base substitution G T intron_variant LIRI-JP 18 54504045 54504045 single base substitution A G intron_variant LIRI-JP 18 54504752 54504752 single base substitution T A intron_variant LIRI-JP 18 54505307 54505307 single base substitution G C intron_variant LIRI-JP 18 54505607 54505607 single base substitution T G intron_variant LIRI-JP 18 54507432 54507432 single base substitution A G intron_variant LIRI-JP 18 54509124 54509124 single base substitution C T intron_variant LIRI-JP 18 54510655 54510655 single base substitution T A intron_variant LIRI-JP 18 54512459 54512459 single base substitution T G intron_variant LIRI-JP 18 54512617 54512617 single base substitution A G intron_variant LIRI-JP 18 54517386 54517386 single base substitution A G intron_variant LIRI-JP 18 54518854 54518854 single base substitution A G intron_variant LIRI-JP 18 54521520 54521520 single base substitution G C intron_variant LIRI-JP 18 54522430 54522430 single base substitution C G intron_variant LIRI-JP 18 54525195 54525195 single base substitution T C intron_variant LIRI-JP 18 54527252 54527252 single base substitution A G intron_variant LIRI-JP 18 54528216 54528216 single base substitution A G intron_variant LIRI-JP 18 54528459 54528459 single base substitution A G intron_variant LIRI-JP 18 54528556 54528556 single base substitution A G intron_variant LIRI-JP 18 54528868 54528868 insertion of <=200bp - GT intron_variant LIRI-JP 18 54529606 54529606 single base substitution A G intron_variant LIRI-JP 18 54529996 54529996 single base substitution G T intron_variant LIRI-JP 18 54529999 54529999 single base substitution T G intron_variant LIRI-JP 18 54530827 54530827 single base substitution A G intron_variant LIRI-JP 18 54533898 54533898 single base substitution G C intron_variant LIRI-JP 18 54538399 54538399 single base substitution T C intron_variant LIRI-JP 18 54544406 54544406 single base substitution A T intron_variant LIRI-JP 18 54546046 54546046 single base substitution A G intron_variant LIRI-JP 18 54546143 54546143 single base substitution A G intron_variant LIRI-JP 18 54546364 54546364 single base substitution G A intron_variant LIRI-JP 18 54546510 54546510 single base substitution A G intron_variant LIRI-JP 18 54547872 54547872 single base substitution A G intron_variant LIRI-JP 18 54547960 54547960 single base substitution A G intron_variant LIRI-JP 18 54549593 54549593 single base substitution G T intron_variant LIRI-JP 18 54554847 54554847 single base substitution A G intron_variant LIRI-JP 18 54554847 54554847 single base substitution A G upstream_gene_variant LIRI-JP 18 54556501 54556501 single base substitution G A intron_variant LIRI-JP 18 54556501 54556501 single base substitution G A upstream_gene_variant LIRI-JP 18 54558182 54558182 single base substitution G T intron_variant LIRI-JP 18 54564136 54564136 single base substitution A C intron_variant LIRI-JP 18 54565827 54565827 single base substitution A G intron_variant LIRI-JP 18 54566408 54566408 single base substitution A G intron_variant LIRI-JP 18 54567454 54567454 single base substitution A G intron_variant LIRI-JP 18 54569753 54569754 deletion of <=200bp CT - intron_variant LIRI-JP 18 54569902 54569902 single base substitution T C intron_variant LIRI-JP 18 54570513 54570515 deletion of <=200bp TAT - intron_variant LIRI-JP 18 54571290 54571290 single base substitution A G intron_variant LIRI-JP 18 54572944 54572944 single base substitution G A intron_variant LIRI-JP 18 54574308 54574308 single base substitution A T intron_variant LIRI-JP 18 54575116 54575116 single base substitution A G intron_variant LIRI-JP 18 54576230 54576230 deletion of <=200bp T - intron_variant LIRI-JP 18 54577456 54577456 single base substitution A T intron_variant LIRI-JP 18 54580545 54580545 single base substitution T C intron_variant LIRI-JP 18 54582755 54582755 single base substitution A G intron_variant LIRI-JP 18 54583770 54583770 single base substitution A C intron_variant LIRI-JP 18 54584920 54584920 single base substitution A G intron_variant LIRI-JP 18 54584941 54584941 single base substitution A G intron_variant LIRI-JP 18 54585429 54585429 single base substitution T C intron_variant LIRI-JP 18 54586260 54586260 single base substitution A G intron_variant LIRI-JP 18 54586309 54586309 single base substitution A G intron_variant LIRI-JP 18 54589713 54589713 single base substitution A G intron_variant LIRI-JP 18 54591840 54591840 single base substitution G A intron_variant LIRI-JP 18 54594390 54594390 single base substitution T C intron_variant LIRI-JP 18 54594912 54594912 single base substitution C T intron_variant LIRI-JP 18 54599832 54599832 single base substitution A G intron_variant LIRI-JP 18 54599832 54599832 single base substitution A G upstream_gene_variant LIRI-JP 18 54601367 54601367 single base substitution A G intron_variant LIRI-JP 18 54601367 54601367 single base substitution A G upstream_gene_variant LIRI-JP 18 54602166 54602166 single base substitution C G intron_variant LIRI-JP 18 54602166 54602166 single base substitution C G upstream_gene_variant LIRI-JP 18 54602703 54602703 single base substitution A G intron_variant LIRI-JP 18 54602703 54602703 single base substitution A G upstream_gene_variant LIRI-JP 18 54604271 54604271 single base substitution A G intron_variant LIRI-JP 18 54604994 54604994 single base substitution T G intron_variant LIRI-JP 18 54606543 54606543 single base substitution T C downstream_gene_variant LIRI-JP 18 54606543 54606543 single base substitution T C intron_variant LIRI-JP 18 54606543 54606543 single base substitution T C missense_variant V1295A 3884T>C LIRI-JP 18 54606543 54606543 single base substitution T C missense_variant V1328A 3983T>C LIRI-JP 18 54606543 54606543 single base substitution T C splice_region_variant LIRI-JP 18 54608058 54608058 single base substitution T G downstream_gene_variant LIRI-JP 18 54608058 54608058 single base substitution T G intron_variant LIRI-JP 18 54608473 54608473 single base substitution C T downstream_gene_variant LIRI-JP 18 54608473 54608473 single base substitution C T intron_variant LIRI-JP 18 54609437 54609437 single base substitution G A downstream_gene_variant LIRI-JP 18 54609437 54609437 single base substitution G A intron_variant LIRI-JP 18 54610489 54610489 single base substitution T C downstream_gene_variant LIRI-JP 18 54610489 54610489 single base substitution T C intron_variant LIRI-JP 18 54611618 54611618 single base substitution G T intron_variant LIRI-JP 18 54612047 54612047 single base substitution T A intron_variant LIRI-JP 18 54613149 54613149 single base substitution G C intron_variant LIRI-JP 18 54613579 54613579 single base substitution T C intron_variant LIRI-JP 18 54614090 54614090 single base substitution C T intron_variant LIRI-JP 18 54614379 54614379 single base substitution T C intron_variant LIRI-JP 18 54615675 54615675 single base substitution G T intron_variant LIRI-JP 18 54619909 54619909 single base substitution T A intron_variant LIRI-JP 18 54620427 54620427 single base substitution C T intron_variant LIRI-JP 18 54624355 54624355 single base substitution A T intron_variant LIRI-JP 18 54625037 54625037 single base substitution T A intron_variant LIRI-JP 18 54625037 54625037 single base substitution T A upstream_gene_variant LIRI-JP 18 54630590 54630590 single base substitution G A intron_variant LIRI-JP 18 54630975 54630975 single base substitution G A intron_variant LIRI-JP 18 54634493 54634493 single base substitution G T intron_variant LIRI-JP 18 54637109 54637109 insertion of <=200bp - T intron_variant LIRI-JP 18 54638155 54638155 single base substitution A T intron_variant LIRI-JP 18 54638293 54638293 single base substitution A T intron_variant LIRI-JP 18 54639153 54639153 single base substitution C T intron_variant LIRI-JP 18 54645330 54645330 single base substitution T C intron_variant LIRI-JP 18 54646687 54646687 single base substitution C A intron_variant LIRI-JP 18 54646998 54646998 single base substitution G T intron_variant LIRI-JP 18 54648563 54648563 single base substitution A G intron_variant LIRI-JP 18 54651054 54651054 single base substitution A G intron_variant LIRI-JP 18 54653159 54653159 insertion of <=200bp - T intron_variant LIRI-JP 18 54653792 54653792 single base substitution G A intron_variant LIRI-JP 18 54655484 54655484 single base substitution A G intron_variant LIRI-JP 18 54655652 54655652 single base substitution A G intron_variant LIRI-JP 18 54658215 54658215 single base substitution G T intron_variant LIRI-JP 18 54658914 54658914 single base substitution C A intron_variant LIRI-JP 18 54659359 54659359 single base substitution A G intron_variant LIRI-JP 18 54660161 54660161 single base substitution A G intron_variant LIRI-JP 18 54663106 54663106 single base substitution A G intron_variant LIRI-JP 18 54663280 54663280 single base substitution G A intron_variant LIRI-JP 18 54663344 54663344 single base substitution G A intron_variant LIRI-JP 18 54665484 54665484 single base substitution G T intron_variant LIRI-JP 18 54666186 54666186 single base substitution A G intron_variant LIRI-JP 18 54668641 54668641 single base substitution A G intron_variant LIRI-JP 18 54668738 54668738 single base substitution A G intron_variant LIRI-JP 18 54672410 54672410 single base substitution A G intron_variant LIRI-JP 18 54672590 54672590 single base substitution A G intron_variant LIRI-JP 18 54673503 54673503 single base substitution A G intron_variant LIRI-JP 18 54676049 54676049 single base substitution T G intron_variant LIRI-JP 18 54678419 54678419 single base substitution A G downstream_gene_variant LIRI-JP 18 54678419 54678419 single base substitution A G intron_variant LIRI-JP 18 54682696 54682696 single base substitution A G intron_variant LIRI-JP 18 54684503 54684503 single base substitution A C intron_variant LIRI-JP 18 54684928 54684928 single base substitution T C intron_variant LIRI-JP 18 54685669 54685669 single base substitution C T intron_variant LIRI-JP 18 54685822 54685822 single base substitution A G intron_variant LIRI-JP 18 54689026 54689026 single base substitution G C downstream_gene_variant LIRI-JP 18 54689026 54689026 single base substitution G C intron_variant LIRI-JP 18 54691446 54691446 single base substitution G T downstream_gene_variant LIRI-JP 18 54691446 54691446 single base substitution G T intron_variant LIRI-JP 18 54692335 54692335 single base substitution C A downstream_gene_variant LIRI-JP 18 54692335 54692335 single base substitution C A intron_variant LIRI-JP 18 54692782 54692782 single base substitution A G downstream_gene_variant LIRI-JP 18 54692782 54692782 single base substitution A G intron_variant LIRI-JP 18 54693495 54693495 single base substitution A T intron_variant LIRI-JP 18 54693576 54693576 single base substitution G T intron_variant LIRI-JP 18 54694131 54694131 single base substitution A G intron_variant LIRI-JP 18 54695152 54695154 deletion of <=200bp TAG - 3_prime_UTR_variant LIRI-JP 18 54695152 54695154 deletion of <=200bp TAG - downstream_gene_variant LIRI-JP 18 54695892 54695892 single base substitution A G 3_prime_UTR_variant LIRI-JP 18 54695892 54695892 single base substitution A G downstream_gene_variant LIRI-JP 18 54696486 54696486 single base substitution G C 3_prime_UTR_variant LIRI-JP 18 54696486 54696486 single base substitution G C downstream_gene_variant LIRI-JP 18 54697917 54697917 single base substitution A C 3_prime_UTR_variant LIRI-JP 18 54697917 54697917 single base substitution A C downstream_gene_variant LIRI-JP 18 54698075 54698075 single base substitution T G 3_prime_UTR_variant LIRI-JP 18 54698075 54698075 single base substitution T G downstream_gene_variant LIRI-JP 18 54701708 54701708 single base substitution A G downstream_gene_variant LUSC-KR 18 54314065 54314065 single base substitution C A upstream_gene_variant LUSC-KR 18 54316462 54316462 single base substitution C A upstream_gene_variant LUSC-KR 18 54319094 54319094 single base substitution G T intron_variant LUSC-KR 18 54319381 54319381 single base substitution C T intron_variant LUSC-KR 18 54321338 54321338 single base substitution C G intron_variant LUSC-KR 18 54323200 54323200 single base substitution G C intron_variant LUSC-KR 18 54331273 54331273 single base substitution A T intron_variant LUSC-KR 18 54332654 54332654 single base substitution T G intron_variant LUSC-KR 18 54342592 54342592 single base substitution A G intron_variant LUSC-KR 18 54350332 54350332 single base substitution G A downstream_gene_variant LUSC-KR 18 54350332 54350332 single base substitution G A intron_variant LUSC-KR 18 54352325 54352325 single base substitution C T downstream_gene_variant LUSC-KR 18 54352325 54352325 single base substitution C T intron_variant LUSC-KR 18 54352326 54352326 single base substitution C T downstream_gene_variant LUSC-KR 18 54352326 54352326 single base substitution C T intron_variant LUSC-KR 18 54353179 54353179 single base substitution C A downstream_gene_variant LUSC-KR 18 54353179 54353179 single base substitution C A intron_variant LUSC-KR 18 54353179 54353179 single base substitution C A splice_region_variant LUSC-KR 18 54355943 54355943 single base substitution G A intron_variant LUSC-KR 18 54357975 54357975 single base substitution G T intron_variant LUSC-KR 18 54357975 54357975 single base substitution G T upstream_gene_variant LUSC-KR 18 54364324 54364324 single base substitution G T downstream_gene_variant LUSC-KR 18 54364324 54364324 single base substitution G T intron_variant LUSC-KR 18 54369583 54369583 single base substitution C G intron_variant LUSC-KR 18 54376026 54376026 single base substitution G T intron_variant LUSC-KR 18 54379461 54379461 single base substitution G T intron_variant LUSC-KR 18 54381112 54381112 single base substitution G A intron_variant LUSC-KR 18 54385263 54385263 single base substitution G C intron_variant LUSC-KR 18 54385263 54385263 single base substitution G C missense_variant E549D 1647G>C LUSC-KR 18 54385263 54385263 single base substitution G C upstream_gene_variant LUSC-KR 18 54386656 54386656 single base substitution G C intron_variant LUSC-KR 18 54386656 54386656 single base substitution G C upstream_gene_variant LUSC-KR 18 54387004 54387004 single base substitution C A intron_variant LUSC-KR 18 54387004 54387004 single base substitution C A upstream_gene_variant LUSC-KR 18 54394777 54394777 single base substitution G T intron_variant LUSC-KR 18 54396387 54396387 single base substitution A G intron_variant LUSC-KR 18 54396976 54396976 single base substitution A G intron_variant LUSC-KR 18 54403829 54403829 single base substitution A T intron_variant LUSC-KR 18 54406598 54406598 single base substitution C T intron_variant LUSC-KR 18 54407471 54407471 single base substitution A G intron_variant LUSC-KR 18 54408709 54408709 single base substitution C T intron_variant LUSC-KR 18 54412842 54412842 single base substitution C T intron_variant LUSC-KR 18 54425944 54425944 single base substitution C A downstream_gene_variant LUSC-KR 18 54425944 54425944 single base substitution C A intron_variant LUSC-KR 18 54443998 54443998 single base substitution C G intron_variant LUSC-KR 18 54444709 54444709 single base substitution G T intron_variant LUSC-KR 18 54446462 54446462 single base substitution G T intron_variant LUSC-KR 18 54452588 54452588 single base substitution T G downstream_gene_variant LUSC-KR 18 54452588 54452588 single base substitution T G intron_variant LUSC-KR 18 54456804 54456804 single base substitution G C intron_variant LUSC-KR 18 54461050 54461050 single base substitution G T intron_variant LUSC-KR 18 54464401 54464401 single base substitution G T intron_variant LUSC-KR 18 54464460 54464460 single base substitution A T intron_variant LUSC-KR 18 54476900 54476900 single base substitution G T intron_variant LUSC-KR 18 54480000 54480000 single base substitution C G intron_variant LUSC-KR 18 54481035 54481035 single base substitution A T intron_variant LUSC-KR 18 54486367 54486367 single base substitution G T intron_variant LUSC-KR 18 54491955 54491955 single base substitution A G intron_variant LUSC-KR 18 54492596 54492596 single base substitution G A intron_variant LUSC-KR 18 54498434 54498434 single base substitution A G intron_variant LUSC-KR 18 54500371 54500371 single base substitution A G intron_variant LUSC-KR 18 54500468 54500468 single base substitution C T intron_variant LUSC-KR 18 54501008 54501008 single base substitution C G intron_variant LUSC-KR 18 54509242 54509242 single base substitution G A intron_variant LUSC-KR 18 54512057 54512057 single base substitution G T intron_variant LUSC-KR 18 54512644 54512644 single base substitution G C intron_variant LUSC-KR 18 54513002 54513002 single base substitution G T intron_variant LUSC-KR 18 54513067 54513067 single base substitution T C intron_variant LUSC-KR 18 54513127 54513127 single base substitution G T intron_variant LUSC-KR 18 54513802 54513802 single base substitution C T intron_variant LUSC-KR 18 54517934 54517934 single base substitution G C intron_variant LUSC-KR 18 54523675 54523675 single base substitution G A intron_variant LUSC-KR 18 54523679 54523679 single base substitution T A intron_variant LUSC-KR 18 54526828 54526828 single base substitution C T intron_variant LUSC-KR 18 54535082 54535082 single base substitution G A intron_variant LUSC-KR 18 54536165 54536165 single base substitution A T intron_variant LUSC-KR 18 54538109 54538109 single base substitution A G intron_variant LUSC-KR 18 54544928 54544928 single base substitution G T intron_variant LUSC-KR 18 54548881 54548881 single base substitution A C intron_variant LUSC-KR 18 54552001 54552001 single base substitution G C intron_variant LUSC-KR 18 54555700 54555700 single base substitution G A intron_variant LUSC-KR 18 54555700 54555700 single base substitution G A upstream_gene_variant LUSC-KR 18 54557706 54557706 single base substitution A T intron_variant LUSC-KR 18 54557706 54557706 single base substitution A T upstream_gene_variant LUSC-KR 18 54561091 54561091 single base substitution A T intron_variant LUSC-KR 18 54571325 54571325 single base substitution G T intron_variant LUSC-KR 18 54573555 54573555 single base substitution G T intron_variant LUSC-KR 18 54584063 54584063 single base substitution G T intron_variant LUSC-KR 18 54584669 54584669 single base substitution A G intron_variant LUSC-KR 18 54585698 54585698 single base substitution A G intron_variant LUSC-KR 18 54588856 54588856 single base substitution G C intron_variant LUSC-KR 18 54591249 54591249 single base substitution G T intron_variant LUSC-KR 18 54591249 54591249 single base substitution G T missense_variant G1175V 3524G>T LUSC-KR 18 54591249 54591249 single base substitution G T missense_variant G1208V 3623G>T LUSC-KR 18 54591249 54591249 single base substitution G T missense_variant G71V 212G>T LUSC-KR 18 54595652 54595652 single base substitution G A intron_variant LUSC-KR 18 54595761 54595761 single base substitution C T intron_variant LUSC-KR 18 54598439 54598439 single base substitution G A intron_variant LUSC-KR 18 54598439 54598439 single base substitution G A upstream_gene_variant LUSC-KR 18 54598582 54598582 single base substitution G T intron_variant LUSC-KR 18 54598582 54598582 single base substitution G T upstream_gene_variant LUSC-KR 18 54599576 54599576 single base substitution G A intron_variant LUSC-KR 18 54599576 54599576 single base substitution G A upstream_gene_variant LUSC-KR 18 54606346 54606346 single base substitution T C downstream_gene_variant LUSC-KR 18 54606346 54606346 single base substitution T C intron_variant LUSC-KR 18 54608915 54608915 single base substitution A G downstream_gene_variant LUSC-KR 18 54608915 54608915 single base substitution A G intron_variant LUSC-KR 18 54612005 54612005 single base substitution G A intron_variant LUSC-KR 18 54624418 54624418 single base substitution G A intron_variant LUSC-KR 18 54626772 54626772 single base substitution T A intron_variant LUSC-KR 18 54626772 54626772 single base substitution T A upstream_gene_variant LUSC-KR 18 54630098 54630098 single base substitution G C intron_variant LUSC-KR 18 54630237 54630237 single base substitution G T intron_variant LUSC-KR 18 54632003 54632003 single base substitution G C intron_variant LUSC-KR 18 54638202 54638202 single base substitution C G intron_variant LUSC-KR 18 54642682 54642682 single base substitution G T intron_variant LUSC-KR 18 54646068 54646068 single base substitution G T intron_variant LUSC-KR 18 54647622 54647622 single base substitution A G intron_variant LUSC-KR 18 54648793 54648793 single base substitution C G intron_variant LUSC-KR 18 54655161 54655161 single base substitution T C intron_variant LUSC-KR 18 54659130 54659130 single base substitution G T intron_variant LUSC-KR 18 54669106 54669106 single base substitution G A intron_variant LUSC-KR 18 54670634 54670634 single base substitution C A intron_variant LUSC-KR 18 54676055 54676055 single base substitution C A intron_variant LUSC-KR 18 54684911 54684911 single base substitution G T intron_variant LUSC-KR 18 54685586 54685586 single base substitution T C intron_variant LUSC-KR 18 54687922 54687922 single base substitution T A intron_variant LUSC-KR 18 54688609 54688609 single base substitution C T downstream_gene_variant LUSC-KR 18 54688609 54688609 single base substitution C T intron_variant LUSC-KR 18 54689921 54689921 single base substitution G C downstream_gene_variant LUSC-KR 18 54689921 54689921 single base substitution G C intron_variant LUSC-KR 18 54689963 54689963 single base substitution G C downstream_gene_variant LUSC-KR 18 54689963 54689963 single base substitution G C intron_variant LUSC-KR 18 54691808 54691808 single base substitution T C downstream_gene_variant LUSC-KR 18 54691808 54691808 single base substitution T C intron_variant LUSC-KR 18 54691811 54691811 single base substitution A G downstream_gene_variant LUSC-KR 18 54691811 54691811 single base substitution A G intron_variant LUSC-KR 18 54691877 54691877 single base substitution T C downstream_gene_variant LUSC-KR 18 54691877 54691877 single base substitution T C intron_variant LUSC-KR 18 54691880 54691880 single base substitution A G downstream_gene_variant LUSC-KR 18 54691880 54691880 single base substitution A G intron_variant LUSC-KR 18 54692153 54692153 single base substitution T C downstream_gene_variant LUSC-KR 18 54692153 54692153 single base substitution T C intron_variant LUSC-KR 18 54693760 54693760 single base substitution G T intron_variant LUSC-KR 18 54696525 54696525 single base substitution G C 3_prime_UTR_variant LUSC-KR 18 54696525 54696525 single base substitution G C downstream_gene_variant LUSC-KR 18 54697018 54697018 single base substitution A G 3_prime_UTR_variant LUSC-KR 18 54697018 54697018 single base substitution A G downstream_gene_variant LUSC-KR 18 54698752 54698752 single base substitution A T 3_prime_UTR_variant LUSC-KR 18 54698752 54698752 single base substitution A T downstream_gene_variant LUSC-KR 18 54702861 54702861 single base substitution C T downstream_gene_variant LUSC-US 18 54339771 54339771 single base substitution C T intron_variant LUSC-US 18 54339771 54339771 single base substitution C T missense_variant P9S 25C>T LUSC-US 18 54349917 54349917 single base substitution A G intron_variant LUSC-US 18 54349917 54349917 single base substitution A G missense_variant Q118R 353A>G LUSC-US 18 54398666 54398666 single base substitution T C intron_variant LUSC-US 18 54398666 54398666 single base substitution T C synonymous_variant A11A 33T>C LUSC-US 18 54398666 54398666 single base substitution T C synonymous_variant A30A 90T>C LUSC-US 18 54398666 54398666 single base substitution T C synonymous_variant A609A 1827T>C LUSC-US 18 54398770 54398770 single base substitution C G intron_variant LUSC-US 18 54398770 54398770 single base substitution C G missense_variant A46G 137C>G LUSC-US 18 54398770 54398770 single base substitution C G missense_variant A644G 1931C>G LUSC-US 18 54398770 54398770 single base substitution C G missense_variant A65G 194C>G LUSC-US 18 54398814 54398814 single base substitution G C intron_variant LUSC-US 18 54398814 54398814 single base substitution G C missense_variant E61Q 181G>C LUSC-US 18 54398814 54398814 single base substitution G C missense_variant E659Q 1975G>C LUSC-US 18 54398814 54398814 single base substitution G C missense_variant E80Q 238G>C LUSC-US 18 54423878 54423878 single base substitution A T intron_variant LUSC-US 18 54423878 54423878 single base substitution A T missense_variant D106V 317A>T LUSC-US 18 54423878 54423878 single base substitution A T missense_variant D685V 2054A>T LUSC-US 18 54423878 54423878 single base substitution A T missense_variant D87V 260A>T LUSC-US 18 54423878 54423878 single base substitution A T upstream_gene_variant LUSC-US 18 54423947 54423947 single base substitution C T downstream_gene_variant LUSC-US 18 54423947 54423947 single base substitution C T intron_variant LUSC-US 18 54423947 54423947 single base substitution C T missense_variant S110F 329C>T LUSC-US 18 54423947 54423947 single base substitution C T missense_variant S129F 386C>T LUSC-US 18 54423947 54423947 single base substitution C T missense_variant S708F 2123C>T LUSC-US 18 54423947 54423947 single base substitution C T upstream_gene_variant LUSC-US 18 54424078 54424078 single base substitution G C downstream_gene_variant LUSC-US 18 54424078 54424078 single base substitution G C intron_variant LUSC-US 18 54424078 54424078 single base substitution G C missense_variant E154Q 460G>C LUSC-US 18 54424078 54424078 single base substitution G C missense_variant E173Q 517G>C LUSC-US 18 54424078 54424078 single base substitution G C missense_variant E752Q 2254G>C LUSC-US 18 54424078 54424078 single base substitution G C upstream_gene_variant LUSC-US 18 54424311 54424311 single base substitution C T downstream_gene_variant LUSC-US 18 54424311 54424311 single base substitution C T intron_variant LUSC-US 18 54424311 54424311 single base substitution C T synonymous_variant P231P 693C>T LUSC-US 18 54424311 54424311 single base substitution C T synonymous_variant P829P 2487C>T LUSC-US 18 54424311 54424311 single base substitution C T upstream_gene_variant LUSC-US 18 54424511 54424511 single base substitution C G downstream_gene_variant LUSC-US 18 54424511 54424511 single base substitution C G intron_variant LUSC-US 18 54424511 54424511 single base substitution C G missense_variant S298C 893C>G LUSC-US 18 54424511 54424511 single base substitution C G missense_variant S896C 2687C>G LUSC-US 18 54424511 54424511 single base substitution C G upstream_gene_variant LUSC-US 18 54605772 54605772 single base substitution A C exon_variant LUSC-US 18 54605772 54605772 single base substitution A C intron_variant LUSC-US 18 54605772 54605772 single base substitution A C missense_variant R1247S 3741A>C LUSC-US 18 54605772 54605772 single base substitution A C missense_variant R1280S 3840A>C LUSC-US 18 54605772 54605772 single base substitution A C missense_variant R143S 429A>C MALY-DE 18 54318262 54318262 insertion of <=200bp - T upstream_gene_variant MALY-DE 18 54329110 54329111 deletion of <=200bp CA - intron_variant MALY-DE 18 54333389 54333389 single base substitution C T intron_variant MALY-DE 18 54336403 54336403 single base substitution G A intron_variant MALY-DE 18 54340875 54340875 single base substitution G A intron_variant MALY-DE 18 54346575 54346575 single base substitution G C intron_variant MALY-DE 18 54346575 54346575 single base substitution G C missense_variant A58P 172G>C MALY-DE 18 54356246 54356246 single base substitution C T intron_variant MALY-DE 18 54359949 54359949 insertion of <=200bp - A intron_variant MALY-DE 18 54359949 54359949 insertion of <=200bp - A upstream_gene_variant MALY-DE 18 54360148 54360148 single base substitution T A intron_variant MALY-DE 18 54360148 54360148 single base substitution T A upstream_gene_variant MALY-DE 18 54367471 54367471 single base substitution A T downstream_gene_variant MALY-DE 18 54367471 54367471 single base substitution A T intron_variant MALY-DE 18 54375014 54375014 single base substitution G A intron_variant MALY-DE 18 54376670 54376670 single base substitution A G intron_variant MALY-DE 18 54378241 54378241 single base substitution A C intron_variant MALY-DE 18 54384917 54384917 single base substitution T C intron_variant MALY-DE 18 54384917 54384917 single base substitution T C upstream_gene_variant MALY-DE 18 54387008 54387008 single base substitution G A intron_variant MALY-DE 18 54387008 54387008 single base substitution G A upstream_gene_variant MALY-DE 18 54391415 54391415 single base substitution G A intron_variant MALY-DE 18 54399907 54399907 single base substitution A C intron_variant MALY-DE 18 54406990 54406990 single base substitution G T intron_variant MALY-DE 18 54407068 54407068 single base substitution T C intron_variant MALY-DE 18 54407088 54407088 single base substitution T A intron_variant MALY-DE 18 54407147 54407147 single base substitution A C intron_variant MALY-DE 18 54411196 54411196 single base substitution G C intron_variant MALY-DE 18 54413739 54413739 single base substitution T A intron_variant MALY-DE 18 54416587 54416587 single base substitution G A intron_variant MALY-DE 18 54419301 54419301 single base substitution C T intron_variant MALY-DE 18 54423135 54423135 single base substitution G A intron_variant MALY-DE 18 54423135 54423135 single base substitution G A upstream_gene_variant MALY-DE 18 54425618 54425618 single base substitution C T downstream_gene_variant MALY-DE 18 54425618 54425618 single base substitution C T intron_variant MALY-DE 18 54446167 54446167 single base substitution G A intron_variant MALY-DE 18 54451519 54451519 single base substitution T G downstream_gene_variant MALY-DE 18 54451519 54451519 single base substitution T G intron_variant MALY-DE 18 54458447 54458447 single base substitution G T intron_variant MALY-DE 18 54459243 54459243 single base substitution T G intron_variant MALY-DE 18 54459997 54459997 insertion of <=200bp - AC intron_variant MALY-DE 18 54459997 54459998 deletion of <=200bp AC - intron_variant MALY-DE 18 54477389 54477389 single base substitution T C intron_variant MALY-DE 18 54478596 54478596 single base substitution G C intron_variant MALY-DE 18 54482692 54482692 single base substitution T C intron_variant MALY-DE 18 54484683 54484683 single base substitution T A intron_variant MALY-DE 18 54493460 54493460 single base substitution T C intron_variant MALY-DE 18 54494118 54494118 single base substitution A G intron_variant MALY-DE 18 54497382 54497382 single base substitution A G intron_variant MALY-DE 18 54501067 54501067 single base substitution C T intron_variant MALY-DE 18 54508900 54508900 single base substitution G A intron_variant MALY-DE 18 54512775 54512775 single base substitution G C intron_variant MALY-DE 18 54517898 54517898 single base substitution A C intron_variant MALY-DE 18 54519288 54519288 single base substitution A G intron_variant MALY-DE 18 54528564 54528564 single base substitution A C intron_variant MALY-DE 18 54530601 54530601 single base substitution C T intron_variant MALY-DE 18 54542393 54542393 single base substitution T G intron_variant MALY-DE 18 54547998 54547998 deletion of <=200bp A - intron_variant MALY-DE 18 54548038 54548038 single base substitution T G intron_variant MALY-DE 18 54549533 54549533 single base substitution A T intron_variant MALY-DE 18 54553067 54553067 single base substitution A C intron_variant MALY-DE 18 54553067 54553067 single base substitution A C upstream_gene_variant MALY-DE 18 54554899 54554899 deletion of <=200bp T - intron_variant MALY-DE 18 54554899 54554899 deletion of <=200bp T - upstream_gene_variant MALY-DE 18 54556352 54556352 single base substitution C T intron_variant MALY-DE 18 54556352 54556352 single base substitution C T upstream_gene_variant MALY-DE 18 54575220 54575220 single base substitution C A intron_variant MALY-DE 18 54584440 54584440 single base substitution T A intron_variant MALY-DE 18 54606842 54606842 single base substitution A C downstream_gene_variant MALY-DE 18 54606842 54606842 single base substitution A C intron_variant MALY-DE 18 54608521 54608523 deletion of <=200bp ATA - downstream_gene_variant MALY-DE 18 54608521 54608523 deletion of <=200bp ATA - intron_variant MALY-DE 18 54608803 54608803 single base substitution A G downstream_gene_variant MALY-DE 18 54608803 54608803 single base substitution A G intron_variant MALY-DE 18 54616649 54616649 single base substitution A C intron_variant MALY-DE 18 54620451 54620451 insertion of <=200bp - A intron_variant MALY-DE 18 54627932 54627932 single base substitution T C intron_variant MALY-DE 18 54627932 54627932 single base substitution T C upstream_gene_variant MALY-DE 18 54631581 54631581 single base substitution A T intron_variant MALY-DE 18 54637851 54637851 single base substitution G A intron_variant MALY-DE 18 54638061 54638061 single base substitution G T intron_variant MALY-DE 18 54641447 54641447 single base substitution A G intron_variant MALY-DE 18 54642012 54642012 single base substitution C T intron_variant MALY-DE 18 54643232 54643232 single base substitution G C intron_variant MALY-DE 18 54650802 54650803 deletion of <=200bp AG - intron_variant MALY-DE 18 54651399 54651399 single base substitution A G intron_variant MALY-DE 18 54654857 54654857 single base substitution C T intron_variant MALY-DE 18 54659872 54659872 single base substitution G A intron_variant MALY-DE 18 54672552 54672552 single base substitution G A intron_variant MALY-DE 18 54678329 54678329 single base substitution T A downstream_gene_variant MALY-DE 18 54678329 54678329 single base substitution T A intron_variant MALY-DE 18 54683095 54683095 single base substitution G A intron_variant MALY-DE 18 54690321 54690321 single base substitution G C downstream_gene_variant MALY-DE 18 54690321 54690321 single base substitution G C intron_variant MALY-DE 18 54691792 54691792 single base substitution A G downstream_gene_variant MALY-DE 18 54691792 54691792 single base substitution A G intron_variant MELA-AU 18 54313628 54313628 single base substitution G A upstream_gene_variant MELA-AU 18 54313810 54313810 single base substitution T G upstream_gene_variant MELA-AU 18 54314209 54314209 single base substitution T A upstream_gene_variant MELA-AU 18 54314781 54314781 single base substitution G A upstream_gene_variant MELA-AU 18 54315003 54315003 single base substitution T G upstream_gene_variant MELA-AU 18 54315207 54315207 single base substitution G A upstream_gene_variant MELA-AU 18 54315289 54315289 single base substitution G A upstream_gene_variant MELA-AU 18 54315302 54315302 single base substitution C T upstream_gene_variant MELA-AU 18 54315489 54315489 single base substitution G A upstream_gene_variant MELA-AU 18 54315626 54315626 single base substitution C T upstream_gene_variant MELA-AU 18 54315798 54315798 single base substitution G A upstream_gene_variant MELA-AU 18 54315828 54315828 single base substitution C T upstream_gene_variant MELA-AU 18 54316244 54316244 single base substitution C G upstream_gene_variant MELA-AU 18 54316251 54316251 single base substitution G A upstream_gene_variant MELA-AU 18 54316414 54316414 single base substitution G A upstream_gene_variant MELA-AU 18 54316575 54316575 single base substitution C T upstream_gene_variant MELA-AU 18 54316731 54316731 single base substitution A G upstream_gene_variant MELA-AU 18 54316810 54316811 deletion of <=200bp AA - upstream_gene_variant MELA-AU 18 54317361 54317361 single base substitution G A upstream_gene_variant MELA-AU 18 54317895 54317895 single base substitution G A upstream_gene_variant MELA-AU 18 54318081 54318081 single base substitution C T upstream_gene_variant MELA-AU 18 54318396 54318396 single base substitution T C upstream_gene_variant MELA-AU 18 54318398 54318398 single base substitution C T upstream_gene_variant MELA-AU 18 54319253 54319253 single base substitution C T intron_variant MELA-AU 18 54319647 54319647 single base substitution T C intron_variant MELA-AU 18 54319941 54319941 single base substitution C T intron_variant MELA-AU 18 54320242 54320242 single base substitution G A intron_variant MELA-AU 18 54320436 54320436 single base substitution C T intron_variant MELA-AU 18 54320467 54320467 single base substitution C T intron_variant MELA-AU 18 54320737 54320737 single base substitution C T intron_variant MELA-AU 18 54321218 54321218 single base substitution C T intron_variant MELA-AU 18 54321223 54321223 single base substitution G A intron_variant MELA-AU 18 54321730 54321730 single base substitution C T intron_variant MELA-AU 18 54322596 54322597 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54323363 54323363 single base substitution G A intron_variant MELA-AU 18 54323601 54323602 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54324307 54324307 single base substitution A T intron_variant MELA-AU 18 54325063 54325063 single base substitution A T intron_variant MELA-AU 18 54325425 54325425 single base substitution C T intron_variant MELA-AU 18 54325730 54325730 single base substitution T A intron_variant MELA-AU 18 54325791 54325791 single base substitution C T intron_variant MELA-AU 18 54326533 54326533 single base substitution C T intron_variant MELA-AU 18 54326916 54326916 single base substitution C T intron_variant MELA-AU 18 54327357 54327357 single base substitution T C intron_variant MELA-AU 18 54328550 54328550 single base substitution C T intron_variant MELA-AU 18 54329222 54329222 deletion of <=200bp G - intron_variant MELA-AU 18 54329664 54329664 single base substitution C T intron_variant MELA-AU 18 54329717 54329717 single base substitution A G intron_variant MELA-AU 18 54329888 54329888 single base substitution C T intron_variant MELA-AU 18 54330210 54330210 single base substitution T G intron_variant MELA-AU 18 54331066 54331066 single base substitution C T intron_variant MELA-AU 18 54331815 54331815 single base substitution T C intron_variant MELA-AU 18 54332431 54332432 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 54332813 54332813 single base substitution C T intron_variant MELA-AU 18 54333213 54333213 single base substitution C T intron_variant MELA-AU 18 54333244 54333244 single base substitution C T intron_variant MELA-AU 18 54333464 54333464 single base substitution C T intron_variant MELA-AU 18 54333664 54333664 single base substitution C T intron_variant MELA-AU 18 54334072 54334072 single base substitution C T intron_variant MELA-AU 18 54334927 54334927 single base substitution C T intron_variant MELA-AU 18 54335060 54335060 single base substitution C T intron_variant MELA-AU 18 54335593 54335593 single base substitution C T intron_variant MELA-AU 18 54336548 54336548 single base substitution C T intron_variant MELA-AU 18 54337021 54337021 single base substitution C T intron_variant MELA-AU 18 54337349 54337349 single base substitution T G intron_variant MELA-AU 18 54337471 54337471 single base substitution C T intron_variant MELA-AU 18 54337935 54337935 single base substitution T C intron_variant MELA-AU 18 54338233 54338233 single base substitution A C intron_variant MELA-AU 18 54338583 54338583 single base substitution G A intron_variant MELA-AU 18 54338897 54338897 single base substitution T G intron_variant MELA-AU 18 54339494 54339494 single base substitution C T intron_variant MELA-AU 18 54340315 54340315 single base substitution C T intron_variant MELA-AU 18 54340999 54340999 single base substitution C T intron_variant MELA-AU 18 54341090 54341091 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54341091 54341091 single base substitution C A intron_variant MELA-AU 18 54341783 54341783 single base substitution C T intron_variant MELA-AU 18 54341804 54341804 single base substitution C T intron_variant MELA-AU 18 54341859 54341859 single base substitution C T intron_variant MELA-AU 18 54341928 54341928 single base substitution C T intron_variant MELA-AU 18 54342231 54342231 single base substitution C T intron_variant MELA-AU 18 54342308 54342308 single base substitution T G intron_variant MELA-AU 18 54342911 54342911 single base substitution A C intron_variant MELA-AU 18 54343093 54343093 single base substitution C T intron_variant MELA-AU 18 54343527 54343527 single base substitution C T intron_variant MELA-AU 18 54343649 54343649 single base substitution C T intron_variant MELA-AU 18 54343685 54343685 single base substitution A C intron_variant MELA-AU 18 54344358 54344358 single base substitution G C intron_variant MELA-AU 18 54344484 54344484 single base substitution C T intron_variant MELA-AU 18 54345453 54345453 single base substitution C T intron_variant MELA-AU 18 54345695 54345695 single base substitution C T intron_variant MELA-AU 18 54345726 54345726 single base substitution C T intron_variant MELA-AU 18 54345983 54345983 single base substitution C T intron_variant MELA-AU 18 54346383 54346384 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54346953 54346953 single base substitution C T intron_variant MELA-AU 18 54347613 54347613 single base substitution T C intron_variant MELA-AU 18 54347615 54347615 single base substitution T C intron_variant MELA-AU 18 54347713 54347713 single base substitution C T intron_variant MELA-AU 18 54348516 54348516 single base substitution C T intron_variant MELA-AU 18 54348543 54348543 single base substitution G A intron_variant MELA-AU 18 54348543 54348543 single base substitution G A splice_acceptor_variant MELA-AU 18 54348946 54348946 single base substitution C T intron_variant MELA-AU 18 54349488 54349488 single base substitution C T intron_variant MELA-AU 18 54349489 54349489 single base substitution C T intron_variant MELA-AU 18 54349541 54349541 single base substitution C T intron_variant MELA-AU 18 54349789 54349789 single base substitution C T intron_variant MELA-AU 18 54349978 54349978 single base substitution C T intron_variant MELA-AU 18 54349978 54349978 single base substitution C T synonymous_variant I138I 414C>T MELA-AU 18 54350067 54350067 single base substitution G A intron_variant MELA-AU 18 54350067 54350067 single base substitution G A missense_variant R168Q 503G>A MELA-AU 18 54350652 54350652 single base substitution T C downstream_gene_variant MELA-AU 18 54350652 54350652 single base substitution T C intron_variant MELA-AU 18 54352475 54352475 single base substitution A T downstream_gene_variant MELA-AU 18 54352475 54352475 single base substitution A T intron_variant MELA-AU 18 54352608 54352608 single base substitution C T downstream_gene_variant MELA-AU 18 54352608 54352608 single base substitution C T intron_variant MELA-AU 18 54353530 54353530 single base substitution G A downstream_gene_variant MELA-AU 18 54353530 54353530 single base substitution G A intron_variant MELA-AU 18 54354435 54354435 single base substitution C T downstream_gene_variant MELA-AU 18 54354435 54354435 single base substitution C T intron_variant MELA-AU 18 54354501 54354502 multiple base substitution (>=2bp and <=200bp) GA TT downstream_gene_variant MELA-AU 18 54354501 54354502 multiple base substitution (>=2bp and <=200bp) GA TT intron_variant MELA-AU 18 54354569 54354569 single base substitution C T downstream_gene_variant MELA-AU 18 54354569 54354569 single base substitution C T intron_variant MELA-AU 18 54354866 54354866 single base substitution T C downstream_gene_variant MELA-AU 18 54354866 54354866 single base substitution T C intron_variant MELA-AU 18 54355084 54355084 single base substitution C T intron_variant MELA-AU 18 54355333 54355333 single base substitution G C intron_variant MELA-AU 18 54355496 54355496 single base substitution C T intron_variant MELA-AU 18 54356010 54356010 single base substitution C T intron_variant MELA-AU 18 54356023 54356023 single base substitution C T intron_variant MELA-AU 18 54356070 54356070 single base substitution C T intron_variant MELA-AU 18 54356262 54356262 single base substitution A T intron_variant MELA-AU 18 54356894 54356894 single base substitution C T intron_variant MELA-AU 18 54356894 54356894 single base substitution C T upstream_gene_variant MELA-AU 18 54357843 54357843 single base substitution C T intron_variant MELA-AU 18 54357843 54357843 single base substitution C T upstream_gene_variant MELA-AU 18 54358095 54358095 single base substitution C T intron_variant MELA-AU 18 54358095 54358095 single base substitution C T upstream_gene_variant MELA-AU 18 54358194 54358195 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 54358194 54358195 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 54358658 54358658 single base substitution C T intron_variant MELA-AU 18 54358658 54358658 single base substitution C T upstream_gene_variant MELA-AU 18 54359007 54359007 single base substitution C T intron_variant MELA-AU 18 54359007 54359007 single base substitution C T missense_variant P309S 925C>T MELA-AU 18 54359007 54359007 single base substitution C T upstream_gene_variant MELA-AU 18 54359487 54359487 single base substitution C T intron_variant MELA-AU 18 54359487 54359487 single base substitution C T upstream_gene_variant MELA-AU 18 54360525 54360525 single base substitution C T intron_variant MELA-AU 18 54360525 54360525 single base substitution C T upstream_gene_variant MELA-AU 18 54362319 54362319 single base substitution C T exon_variant MELA-AU 18 54362319 54362319 single base substitution C T intron_variant MELA-AU 18 54362319 54362319 single base substitution C T missense_variant P416L 1247C>T MELA-AU 18 54362962 54362962 single base substitution C T intron_variant MELA-AU 18 54363266 54363266 single base substitution G A intron_variant MELA-AU 18 54363455 54363455 single base substitution C T intron_variant MELA-AU 18 54365309 54365309 single base substitution C T downstream_gene_variant MELA-AU 18 54365309 54365309 single base substitution C T intron_variant MELA-AU 18 54365380 54365380 single base substitution C T downstream_gene_variant MELA-AU 18 54365380 54365380 single base substitution C T intron_variant MELA-AU 18 54365643 54365643 single base substitution C T downstream_gene_variant MELA-AU 18 54365643 54365643 single base substitution C T intron_variant MELA-AU 18 54366590 54366590 single base substitution T C downstream_gene_variant MELA-AU 18 54366590 54366590 single base substitution T C intron_variant MELA-AU 18 54367175 54367175 single base substitution C T downstream_gene_variant MELA-AU 18 54367175 54367175 single base substitution C T intron_variant MELA-AU 18 54367619 54367619 single base substitution C T downstream_gene_variant MELA-AU 18 54367619 54367619 single base substitution C T intron_variant MELA-AU 18 54368231 54368231 single base substitution C T downstream_gene_variant MELA-AU 18 54368231 54368231 single base substitution C T intron_variant MELA-AU 18 54368972 54368972 single base substitution C T intron_variant MELA-AU 18 54369502 54369502 single base substitution C T intron_variant MELA-AU 18 54369560 54369560 single base substitution C T intron_variant MELA-AU 18 54369678 54369679 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54370968 54370968 single base substitution C T intron_variant MELA-AU 18 54371114 54371114 single base substitution C T intron_variant MELA-AU 18 54371420 54371420 single base substitution T C intron_variant MELA-AU 18 54372219 54372219 single base substitution C T intron_variant MELA-AU 18 54372969 54372969 single base substitution C T intron_variant MELA-AU 18 54373025 54373025 single base substitution C T intron_variant MELA-AU 18 54373320 54373320 single base substitution C T intron_variant MELA-AU 18 54373694 54373694 single base substitution T C intron_variant MELA-AU 18 54373883 54373883 single base substitution C T intron_variant MELA-AU 18 54373925 54373925 single base substitution T C intron_variant MELA-AU 18 54374205 54374205 single base substitution C T intron_variant MELA-AU 18 54374631 54374631 single base substitution C T intron_variant MELA-AU 18 54375356 54375356 single base substitution C T intron_variant MELA-AU 18 54375676 54375676 single base substitution T C intron_variant MELA-AU 18 54376248 54376248 single base substitution C T intron_variant MELA-AU 18 54377696 54377696 single base substitution C T intron_variant MELA-AU 18 54378888 54378888 single base substitution G A intron_variant MELA-AU 18 54379036 54379036 single base substitution C T intron_variant MELA-AU 18 54379520 54379520 single base substitution T C intron_variant MELA-AU 18 54380108 54380108 single base substitution A G intron_variant MELA-AU 18 54380377 54380377 single base substitution T C intron_variant MELA-AU 18 54380929 54380929 deletion of <=200bp T - intron_variant MELA-AU 18 54381195 54381195 single base substitution C T intron_variant MELA-AU 18 54381301 54381301 single base substitution C T intron_variant MELA-AU 18 54381890 54381890 single base substitution C T intron_variant MELA-AU 18 54382336 54382336 single base substitution C T intron_variant MELA-AU 18 54383178 54383178 single base substitution T C intron_variant MELA-AU 18 54383210 54383210 single base substitution C T intron_variant MELA-AU 18 54383988 54383988 single base substitution T C intron_variant MELA-AU 18 54383988 54383988 single base substitution T C upstream_gene_variant MELA-AU 18 54384496 54384496 single base substitution A G intron_variant MELA-AU 18 54384496 54384496 single base substitution A G upstream_gene_variant MELA-AU 18 54385355 54385355 single base substitution C T intron_variant MELA-AU 18 54385355 54385355 single base substitution C T missense_variant S580L 1739C>T MELA-AU 18 54385355 54385355 single base substitution C T upstream_gene_variant MELA-AU 18 54385500 54385500 single base substitution T C intron_variant MELA-AU 18 54385500 54385500 single base substitution T C upstream_gene_variant MELA-AU 18 54386054 54386054 single base substitution C T intron_variant MELA-AU 18 54386054 54386054 single base substitution C T upstream_gene_variant MELA-AU 18 54387018 54387018 single base substitution C T intron_variant MELA-AU 18 54387018 54387018 single base substitution C T upstream_gene_variant MELA-AU 18 54387748 54387748 single base substitution T C intron_variant MELA-AU 18 54387748 54387748 single base substitution T C upstream_gene_variant MELA-AU 18 54387753 54387753 single base substitution T C intron_variant MELA-AU 18 54387753 54387753 single base substitution T C upstream_gene_variant MELA-AU 18 54388236 54388236 single base substitution C T intron_variant MELA-AU 18 54388236 54388236 single base substitution C T upstream_gene_variant MELA-AU 18 54389328 54389328 single base substitution G A intron_variant MELA-AU 18 54389806 54389806 single base substitution G A intron_variant MELA-AU 18 54390271 54390271 single base substitution C T intron_variant MELA-AU 18 54390862 54390862 single base substitution C T intron_variant MELA-AU 18 54391098 54391098 single base substitution T A intron_variant MELA-AU 18 54391123 54391123 single base substitution T A intron_variant MELA-AU 18 54392787 54392787 single base substitution C T intron_variant MELA-AU 18 54392852 54392852 single base substitution G A intron_variant MELA-AU 18 54393488 54393488 single base substitution C T intron_variant MELA-AU 18 54393877 54393877 single base substitution C T intron_variant MELA-AU 18 54394087 54394087 single base substitution C T intron_variant MELA-AU 18 54394415 54394415 single base substitution C T intron_variant MELA-AU 18 54394457 54394457 single base substitution C T intron_variant MELA-AU 18 54394557 54394557 single base substitution G A intron_variant MELA-AU 18 54394610 54394610 single base substitution C T intron_variant MELA-AU 18 54394823 54394823 single base substitution C T intron_variant MELA-AU 18 54395041 54395041 single base substitution C T intron_variant MELA-AU 18 54395102 54395102 single base substitution T C intron_variant MELA-AU 18 54395277 54395277 single base substitution C T intron_variant MELA-AU 18 54395663 54395663 single base substitution T G intron_variant MELA-AU 18 54395790 54395790 single base substitution C T intron_variant MELA-AU 18 54395854 54395854 single base substitution G A intron_variant MELA-AU 18 54396101 54396101 single base substitution C T intron_variant MELA-AU 18 54396126 54396126 single base substitution C A intron_variant MELA-AU 18 54396289 54396289 single base substitution G A intron_variant MELA-AU 18 54396376 54396376 single base substitution C T intron_variant MELA-AU 18 54396692 54396692 single base substitution C T intron_variant MELA-AU 18 54396694 54396694 single base substitution C T intron_variant MELA-AU 18 54396830 54396830 single base substitution C T intron_variant MELA-AU 18 54397362 54397362 single base substitution G T intron_variant MELA-AU 18 54397404 54397404 single base substitution C T intron_variant MELA-AU 18 54397437 54397437 single base substitution C T intron_variant MELA-AU 18 54398544 54398544 single base substitution T A intron_variant MELA-AU 18 54398790 54398790 single base substitution C T intron_variant MELA-AU 18 54398790 54398790 single base substitution C T missense_variant L53F 157C>T MELA-AU 18 54398790 54398790 single base substitution C T missense_variant L651F 1951C>T MELA-AU 18 54398790 54398790 single base substitution C T missense_variant L72F 214C>T MELA-AU 18 54399836 54399836 single base substitution G A intron_variant MELA-AU 18 54399931 54399931 single base substitution C T intron_variant MELA-AU 18 54400095 54400095 single base substitution T A intron_variant MELA-AU 18 54400230 54400230 single base substitution G T intron_variant MELA-AU 18 54400759 54400759 single base substitution G A intron_variant MELA-AU 18 54401138 54401138 single base substitution A G intron_variant MELA-AU 18 54401223 54401223 single base substitution G A intron_variant MELA-AU 18 54401496 54401496 single base substitution C T intron_variant MELA-AU 18 54401960 54401960 single base substitution C A intron_variant MELA-AU 18 54402069 54402069 single base substitution C T intron_variant MELA-AU 18 54402682 54402682 single base substitution A T intron_variant MELA-AU 18 54403638 54403638 single base substitution C T intron_variant MELA-AU 18 54403651 54403651 single base substitution C T intron_variant MELA-AU 18 54403669 54403669 single base substitution C T intron_variant MELA-AU 18 54404125 54404126 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 18 54406276 54406276 single base substitution C T intron_variant MELA-AU 18 54406441 54406441 single base substitution C G intron_variant MELA-AU 18 54406644 54406644 single base substitution C T intron_variant MELA-AU 18 54406942 54406942 single base substitution C T intron_variant MELA-AU 18 54407047 54407047 single base substitution T A intron_variant MELA-AU 18 54407781 54407808 deletion of <=200bp ATAGAATAAAGGCTGACCAACTTAATAT - intron_variant MELA-AU 18 54408570 54408570 single base substitution C T intron_variant MELA-AU 18 54408694 54408694 single base substitution C T intron_variant MELA-AU 18 54408698 54408698 single base substitution C T intron_variant MELA-AU 18 54408860 54408860 single base substitution C T intron_variant MELA-AU 18 54408892 54408892 single base substitution C T intron_variant MELA-AU 18 54409348 54409348 single base substitution C T intron_variant MELA-AU 18 54409694 54409694 single base substitution C T intron_variant MELA-AU 18 54409917 54409917 single base substitution C T intron_variant MELA-AU 18 54410308 54410308 single base substitution C T intron_variant MELA-AU 18 54410467 54410467 single base substitution C T intron_variant MELA-AU 18 54411163 54411163 single base substitution C T intron_variant MELA-AU 18 54411211 54411211 single base substitution G A intron_variant MELA-AU 18 54411630 54411630 single base substitution G A intron_variant MELA-AU 18 54411642 54411642 single base substitution C T intron_variant MELA-AU 18 54411900 54411900 single base substitution C T intron_variant MELA-AU 18 54411995 54411995 single base substitution C T intron_variant MELA-AU 18 54412300 54412300 single base substitution A T intron_variant MELA-AU 18 54412564 54412565 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 18 54412928 54412928 single base substitution T C intron_variant MELA-AU 18 54413700 54413700 single base substitution G A intron_variant MELA-AU 18 54414931 54414931 single base substitution G A intron_variant MELA-AU 18 54415081 54415081 single base substitution C T intron_variant MELA-AU 18 54415383 54415383 single base substitution C T intron_variant MELA-AU 18 54415614 54415614 single base substitution C T intron_variant MELA-AU 18 54415756 54415756 single base substitution C A intron_variant MELA-AU 18 54416617 54416617 single base substitution T G intron_variant MELA-AU 18 54417290 54417290 single base substitution C T intron_variant MELA-AU 18 54417638 54417638 single base substitution T C intron_variant MELA-AU 18 54417862 54417862 single base substitution G A intron_variant MELA-AU 18 54418086 54418086 single base substitution C T intron_variant MELA-AU 18 54418421 54418421 single base substitution C T intron_variant MELA-AU 18 54418676 54418676 single base substitution T C intron_variant MELA-AU 18 54418678 54418678 single base substitution T C intron_variant MELA-AU 18 54419383 54419383 single base substitution C T intron_variant MELA-AU 18 54420109 54420110 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54420109 54420110 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 54420110 54420110 single base substitution C T intron_variant MELA-AU 18 54420110 54420110 single base substitution C T upstream_gene_variant MELA-AU 18 54420329 54420329 single base substitution T C intron_variant MELA-AU 18 54420329 54420329 single base substitution T C upstream_gene_variant MELA-AU 18 54420594 54420594 single base substitution C T intron_variant MELA-AU 18 54420594 54420594 single base substitution C T upstream_gene_variant MELA-AU 18 54420650 54420650 single base substitution C T intron_variant MELA-AU 18 54420650 54420650 single base substitution C T upstream_gene_variant MELA-AU 18 54420827 54420827 single base substitution C T intron_variant MELA-AU 18 54420827 54420827 single base substitution C T upstream_gene_variant MELA-AU 18 54420949 54420949 single base substitution G A intron_variant MELA-AU 18 54420949 54420949 single base substitution G A upstream_gene_variant MELA-AU 18 54422284 54422284 single base substitution C T intron_variant MELA-AU 18 54422284 54422284 single base substitution C T upstream_gene_variant MELA-AU 18 54422996 54422996 single base substitution G A intron_variant MELA-AU 18 54422996 54422996 single base substitution G A upstream_gene_variant MELA-AU 18 54425386 54425386 single base substitution C A downstream_gene_variant MELA-AU 18 54425386 54425386 single base substitution C A intron_variant MELA-AU 18 54425425 54425425 single base substitution T C downstream_gene_variant MELA-AU 18 54425425 54425425 single base substitution T C intron_variant MELA-AU 18 54425462 54425462 single base substitution C T downstream_gene_variant MELA-AU 18 54425462 54425462 single base substitution C T intron_variant MELA-AU 18 54426006 54426006 single base substitution C T downstream_gene_variant MELA-AU 18 54426006 54426006 single base substitution C T intron_variant MELA-AU 18 54426191 54426191 deletion of <=200bp T - downstream_gene_variant MELA-AU 18 54426191 54426191 deletion of <=200bp T - intron_variant MELA-AU 18 54426191 54426191 deletion of <=200bp T - splice_region_variant MELA-AU 18 54426681 54426681 single base substitution C T downstream_gene_variant MELA-AU 18 54426681 54426681 single base substitution C T intron_variant MELA-AU 18 54426936 54426936 single base substitution G T downstream_gene_variant MELA-AU 18 54426936 54426936 single base substitution G T intron_variant MELA-AU 18 54426986 54426986 single base substitution C T downstream_gene_variant MELA-AU 18 54426986 54426986 single base substitution C T intron_variant MELA-AU 18 54427063 54427063 single base substitution A T downstream_gene_variant MELA-AU 18 54427063 54427063 single base substitution A T intron_variant MELA-AU 18 54427354 54427354 single base substitution T G downstream_gene_variant MELA-AU 18 54427354 54427354 single base substitution T G intron_variant MELA-AU 18 54427685 54427685 single base substitution A G downstream_gene_variant MELA-AU 18 54427685 54427685 single base substitution A G intron_variant MELA-AU 18 54428048 54428048 single base substitution C G downstream_gene_variant MELA-AU 18 54428048 54428048 single base substitution C G intron_variant MELA-AU 18 54428117 54428117 single base substitution C T downstream_gene_variant MELA-AU 18 54428117 54428117 single base substitution C T intron_variant MELA-AU 18 54428183 54428183 single base substitution C T downstream_gene_variant MELA-AU 18 54428183 54428183 single base substitution C T intron_variant MELA-AU 18 54428709 54428709 single base substitution C T downstream_gene_variant MELA-AU 18 54428709 54428709 single base substitution C T intron_variant MELA-AU 18 54430907 54430907 single base substitution C T intron_variant MELA-AU 18 54431172 54431172 single base substitution T C intron_variant MELA-AU 18 54431865 54431865 single base substitution C T intron_variant MELA-AU 18 54431866 54431866 single base substitution C T intron_variant MELA-AU 18 54431897 54431897 single base substitution C T intron_variant MELA-AU 18 54431930 54431930 single base substitution G T intron_variant MELA-AU 18 54432238 54432238 single base substitution C T intron_variant MELA-AU 18 54432597 54432597 single base substitution C T intron_variant MELA-AU 18 54433165 54433165 single base substitution C T intron_variant MELA-AU 18 54433638 54433638 single base substitution C T intron_variant MELA-AU 18 54433673 54433673 single base substitution C T intron_variant MELA-AU 18 54433844 54433844 single base substitution C T intron_variant MELA-AU 18 54434099 54434099 single base substitution T C intron_variant MELA-AU 18 54434371 54434371 single base substitution C T intron_variant MELA-AU 18 54434461 54434461 single base substitution C T intron_variant MELA-AU 18 54437042 54437042 single base substitution T C intron_variant MELA-AU 18 54437093 54437093 single base substitution C T intron_variant MELA-AU 18 54437464 54437464 single base substitution T A intron_variant MELA-AU 18 54437532 54437532 single base substitution G T intron_variant MELA-AU 18 54437653 54437653 single base substitution T C intron_variant MELA-AU 18 54437745 54437745 single base substitution C T intron_variant MELA-AU 18 54438039 54438039 single base substitution C T intron_variant MELA-AU 18 54438249 54438249 single base substitution C T intron_variant MELA-AU 18 54438339 54438339 single base substitution G A intron_variant MELA-AU 18 54438701 54438701 single base substitution C T intron_variant MELA-AU 18 54438794 54438794 single base substitution C T intron_variant MELA-AU 18 54440221 54440221 single base substitution T C intron_variant MELA-AU 18 54440279 54440279 single base substitution C T intron_variant MELA-AU 18 54440687 54440687 single base substitution C T intron_variant MELA-AU 18 54441132 54441132 single base substitution C T intron_variant MELA-AU 18 54442434 54442434 single base substitution C T intron_variant MELA-AU 18 54442672 54442672 single base substitution A T intron_variant MELA-AU 18 54442754 54442754 single base substitution C T intron_variant MELA-AU 18 54442848 54442848 single base substitution C T intron_variant MELA-AU 18 54442925 54442925 single base substitution C T intron_variant MELA-AU 18 54442939 54442939 single base substitution C T intron_variant MELA-AU 18 54443183 54443183 single base substitution C T intron_variant MELA-AU 18 54443657 54443657 single base substitution C T intron_variant MELA-AU 18 54443865 54443865 single base substitution C T intron_variant MELA-AU 18 54444120 54444120 single base substitution C A intron_variant MELA-AU 18 54444346 54444346 single base substitution G A intron_variant MELA-AU 18 54445069 54445069 single base substitution C T intron_variant MELA-AU 18 54445125 54445125 single base substitution C T intron_variant MELA-AU 18 54445361 54445361 single base substitution C T intron_variant MELA-AU 18 54445581 54445581 single base substitution C T intron_variant MELA-AU 18 54446425 54446425 single base substitution T C intron_variant MELA-AU 18 54447102 54447102 single base substitution C T intron_variant MELA-AU 18 54448188 54448188 single base substitution C T intron_variant MELA-AU 18 54448533 54448533 single base substitution C T intron_variant MELA-AU 18 54448641 54448641 single base substitution C T intron_variant MELA-AU 18 54448887 54448887 single base substitution C T exon_variant MELA-AU 18 54448887 54448887 single base substitution C T intron_variant MELA-AU 18 54448887 54448887 single base substitution C T missense_variant P1031S 3091C>T MELA-AU 18 54448887 54448887 single base substitution C T missense_variant P1064S 3190C>T MELA-AU 18 54449018 54449018 single base substitution C T exon_variant MELA-AU 18 54449018 54449018 single base substitution C T intron_variant MELA-AU 18 54449137 54449137 single base substitution C T exon_variant MELA-AU 18 54449137 54449137 single base substitution C T intron_variant MELA-AU 18 54450665 54450665 single base substitution C T downstream_gene_variant MELA-AU 18 54450665 54450665 single base substitution C T intron_variant MELA-AU 18 54450708 54450708 single base substitution T G downstream_gene_variant MELA-AU 18 54450708 54450708 single base substitution T G intron_variant MELA-AU 18 54450823 54450823 single base substitution G A downstream_gene_variant MELA-AU 18 54450823 54450823 single base substitution G A intron_variant MELA-AU 18 54451314 54451314 single base substitution T A downstream_gene_variant MELA-AU 18 54451314 54451314 single base substitution T A intron_variant MELA-AU 18 54451384 54451385 multiple base substitution (>=2bp and <=200bp) AA TG downstream_gene_variant MELA-AU 18 54451384 54451385 multiple base substitution (>=2bp and <=200bp) AA TG intron_variant MELA-AU 18 54451547 54451547 single base substitution G A downstream_gene_variant MELA-AU 18 54451547 54451547 single base substitution G A intron_variant MELA-AU 18 54451648 54451648 single base substitution C T downstream_gene_variant MELA-AU 18 54451648 54451648 single base substitution C T intron_variant MELA-AU 18 54451750 54451750 single base substitution G A downstream_gene_variant MELA-AU 18 54451750 54451750 single base substitution G A intron_variant MELA-AU 18 54452652 54452652 single base substitution C T downstream_gene_variant MELA-AU 18 54452652 54452652 single base substitution C T intron_variant MELA-AU 18 54453130 54453130 single base substitution C T downstream_gene_variant MELA-AU 18 54453130 54453130 single base substitution C T intron_variant MELA-AU 18 54453292 54453292 single base substitution C T downstream_gene_variant MELA-AU 18 54453292 54453292 single base substitution C T intron_variant MELA-AU 18 54453879 54453879 single base substitution C A downstream_gene_variant MELA-AU 18 54453879 54453879 single base substitution C A intron_variant MELA-AU 18 54454089 54454089 single base substitution T A downstream_gene_variant MELA-AU 18 54454089 54454089 single base substitution T A intron_variant MELA-AU 18 54454310 54454310 single base substitution T C downstream_gene_variant MELA-AU 18 54454310 54454310 single base substitution T C intron_variant MELA-AU 18 54455194 54455194 single base substitution A G intron_variant MELA-AU 18 54455241 54455241 single base substitution C T intron_variant MELA-AU 18 54455566 54455566 single base substitution C T intron_variant MELA-AU 18 54455609 54455609 single base substitution T C intron_variant MELA-AU 18 54455647 54455647 single base substitution T C intron_variant MELA-AU 18 54455814 54455814 single base substitution C T intron_variant MELA-AU 18 54456225 54456225 single base substitution C T intron_variant MELA-AU 18 54456860 54456860 single base substitution C T intron_variant MELA-AU 18 54457270 54457270 single base substitution C T intron_variant MELA-AU 18 54457374 54457374 single base substitution A T intron_variant MELA-AU 18 54457414 54457414 single base substitution C T intron_variant MELA-AU 18 54457916 54457916 single base substitution C T intron_variant MELA-AU 18 54459234 54459234 single base substitution C T intron_variant MELA-AU 18 54459447 54459447 single base substitution C T intron_variant MELA-AU 18 54459494 54459494 single base substitution C T intron_variant MELA-AU 18 54459550 54459550 single base substitution G A intron_variant MELA-AU 18 54460164 54460164 single base substitution T C intron_variant MELA-AU 18 54460546 54460546 single base substitution A T intron_variant MELA-AU 18 54461382 54461382 single base substitution C T intron_variant MELA-AU 18 54461554 54461554 single base substitution T C intron_variant MELA-AU 18 54461569 54461569 single base substitution C T intron_variant MELA-AU 18 54461575 54461575 single base substitution C T intron_variant MELA-AU 18 54461835 54461835 single base substitution C T intron_variant MELA-AU 18 54461916 54461916 single base substitution A T intron_variant MELA-AU 18 54462007 54462007 single base substitution C T intron_variant MELA-AU 18 54462395 54462395 single base substitution C T intron_variant MELA-AU 18 54462988 54462988 single base substitution T A intron_variant MELA-AU 18 54464074 54464074 single base substitution C T intron_variant MELA-AU 18 54464088 54464088 single base substitution C T intron_variant MELA-AU 18 54464136 54464136 single base substitution C T intron_variant MELA-AU 18 54464283 54464283 single base substitution C T intron_variant MELA-AU 18 54464285 54464285 single base substitution T C intron_variant MELA-AU 18 54464449 54464449 single base substitution G A intron_variant MELA-AU 18 54465771 54465771 single base substitution C T intron_variant MELA-AU 18 54465921 54465921 single base substitution C T intron_variant MELA-AU 18 54465938 54465938 single base substitution C T intron_variant MELA-AU 18 54466191 54466191 single base substitution C T intron_variant MELA-AU 18 54466202 54466202 single base substitution C T intron_variant MELA-AU 18 54466202 54466203 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54466887 54466887 single base substitution T A intron_variant MELA-AU 18 54467059 54467059 single base substitution C T intron_variant MELA-AU 18 54468018 54468018 single base substitution C T intron_variant MELA-AU 18 54468057 54468057 single base substitution C T intron_variant MELA-AU 18 54468086 54468086 single base substitution C T intron_variant MELA-AU 18 54468090 54468090 single base substitution G A intron_variant MELA-AU 18 54468679 54468679 single base substitution T A intron_variant MELA-AU 18 54469014 54469014 single base substitution C T intron_variant MELA-AU 18 54469218 54469218 single base substitution C G intron_variant MELA-AU 18 54469620 54469620 single base substitution C T intron_variant MELA-AU 18 54470670 54470670 single base substitution T A intron_variant MELA-AU 18 54470877 54470877 single base substitution G A intron_variant MELA-AU 18 54471028 54471028 single base substitution T C intron_variant MELA-AU 18 54471248 54471248 single base substitution C T intron_variant MELA-AU 18 54472257 54472257 single base substitution C T intron_variant MELA-AU 18 54472283 54472283 single base substitution C T intron_variant MELA-AU 18 54472715 54472715 single base substitution C T intron_variant MELA-AU 18 54473004 54473004 single base substitution C T intron_variant MELA-AU 18 54473427 54473427 single base substitution C T intron_variant MELA-AU 18 54474184 54474184 single base substitution C T intron_variant MELA-AU 18 54474781 54474781 single base substitution T A intron_variant MELA-AU 18 54475493 54475493 single base substitution C T intron_variant MELA-AU 18 54476145 54476145 single base substitution C T intron_variant MELA-AU 18 54476325 54476325 single base substitution C T intron_variant MELA-AU 18 54477090 54477090 single base substitution G C intron_variant MELA-AU 18 54477392 54477392 single base substitution T C intron_variant MELA-AU 18 54478200 54478200 single base substitution C T intron_variant MELA-AU 18 54478204 54478204 single base substitution C T intron_variant MELA-AU 18 54478327 54478327 single base substitution C T intron_variant MELA-AU 18 54479263 54479263 single base substitution C T intron_variant MELA-AU 18 54479608 54479608 single base substitution C A intron_variant MELA-AU 18 54479848 54479848 single base substitution G A intron_variant MELA-AU 18 54480071 54480071 single base substitution C T intron_variant MELA-AU 18 54480412 54480412 single base substitution A C intron_variant MELA-AU 18 54480701 54480701 single base substitution C T intron_variant MELA-AU 18 54480809 54480809 single base substitution C T intron_variant MELA-AU 18 54480895 54480895 single base substitution C T intron_variant MELA-AU 18 54480948 54480948 single base substitution C T intron_variant MELA-AU 18 54481207 54481207 single base substitution T C intron_variant MELA-AU 18 54481513 54481513 single base substitution C T intron_variant MELA-AU 18 54481653 54481653 single base substitution G A intron_variant MELA-AU 18 54481805 54481805 single base substitution G A intron_variant MELA-AU 18 54482081 54482081 single base substitution T A intron_variant MELA-AU 18 54482102 54482102 single base substitution G C intron_variant MELA-AU 18 54482266 54482266 single base substitution T C intron_variant MELA-AU 18 54482288 54482288 single base substitution G C intron_variant MELA-AU 18 54482365 54482365 single base substitution G C intron_variant MELA-AU 18 54482407 54482407 single base substitution G C intron_variant MELA-AU 18 54483092 54483092 single base substitution G C intron_variant MELA-AU 18 54483417 54483417 single base substitution G C intron_variant MELA-AU 18 54483439 54483439 single base substitution G C intron_variant MELA-AU 18 54483889 54483889 single base substitution G A intron_variant MELA-AU 18 54484346 54484346 single base substitution T A intron_variant MELA-AU 18 54484459 54484459 single base substitution C T intron_variant MELA-AU 18 54484628 54484628 single base substitution C T intron_variant MELA-AU 18 54484650 54484653 deletion of <=200bp TAGG - intron_variant MELA-AU 18 54485226 54485226 single base substitution G A intron_variant MELA-AU 18 54485718 54485718 single base substitution C T intron_variant MELA-AU 18 54486073 54486073 single base substitution C T intron_variant MELA-AU 18 54486085 54486085 single base substitution C T intron_variant MELA-AU 18 54487296 54487296 single base substitution A G intron_variant MELA-AU 18 54487798 54487798 single base substitution A C intron_variant MELA-AU 18 54487865 54487865 single base substitution C T intron_variant MELA-AU 18 54488366 54488366 single base substitution C T intron_variant MELA-AU 18 54488671 54488671 single base substitution G T intron_variant MELA-AU 18 54488831 54488831 single base substitution T C intron_variant MELA-AU 18 54490094 54490094 single base substitution A C intron_variant MELA-AU 18 54490454 54490454 single base substitution C T intron_variant MELA-AU 18 54490688 54490688 single base substitution G A intron_variant MELA-AU 18 54490956 54490956 single base substitution T A intron_variant MELA-AU 18 54491305 54491305 single base substitution C T intron_variant MELA-AU 18 54491454 54491454 single base substitution C T intron_variant MELA-AU 18 54492215 54492215 single base substitution C T intron_variant MELA-AU 18 54492347 54492347 single base substitution C T intron_variant MELA-AU 18 54492443 54492443 single base substitution C T intron_variant MELA-AU 18 54492695 54492695 single base substitution C T intron_variant MELA-AU 18 54493472 54493472 single base substitution C T intron_variant MELA-AU 18 54494701 54494701 single base substitution C T intron_variant MELA-AU 18 54494992 54494992 single base substitution T G intron_variant MELA-AU 18 54495778 54495778 single base substitution G A intron_variant MELA-AU 18 54496217 54496217 single base substitution C T intron_variant MELA-AU 18 54496521 54496521 single base substitution C T intron_variant MELA-AU 18 54496793 54496793 single base substitution G A intron_variant MELA-AU 18 54497348 54497348 single base substitution G A intron_variant MELA-AU 18 54499223 54499223 single base substitution C T intron_variant MELA-AU 18 54499428 54499428 single base substitution C T intron_variant MELA-AU 18 54499429 54499429 single base substitution C T intron_variant MELA-AU 18 54499566 54499566 single base substitution C T intron_variant MELA-AU 18 54499697 54499697 single base substitution C T intron_variant MELA-AU 18 54500055 54500055 single base substitution C T intron_variant MELA-AU 18 54500138 54500138 single base substitution C T intron_variant MELA-AU 18 54500159 54500159 single base substitution C T intron_variant MELA-AU 18 54500413 54500413 single base substitution C T intron_variant MELA-AU 18 54500938 54500938 single base substitution C T intron_variant MELA-AU 18 54501378 54501378 single base substitution C T intron_variant MELA-AU 18 54501732 54501732 single base substitution C T intron_variant MELA-AU 18 54502291 54502292 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54503070 54503070 single base substitution G C intron_variant MELA-AU 18 54503099 54503099 single base substitution C T intron_variant MELA-AU 18 54503375 54503375 single base substitution C T intron_variant MELA-AU 18 54503418 54503418 single base substitution C T intron_variant MELA-AU 18 54503527 54503527 single base substitution C T intron_variant MELA-AU 18 54503964 54503964 single base substitution C T intron_variant MELA-AU 18 54504157 54504157 single base substitution C T intron_variant MELA-AU 18 54504566 54504566 single base substitution C T intron_variant MELA-AU 18 54504736 54504736 single base substitution C T intron_variant MELA-AU 18 54505141 54505141 single base substitution C T intron_variant MELA-AU 18 54505151 54505151 single base substitution T C intron_variant MELA-AU 18 54505655 54505655 single base substitution C T intron_variant MELA-AU 18 54506402 54506402 single base substitution T A intron_variant MELA-AU 18 54506560 54506560 single base substitution A C intron_variant MELA-AU 18 54506779 54506779 single base substitution A G intron_variant MELA-AU 18 54506972 54506972 single base substitution C T intron_variant MELA-AU 18 54507014 54507014 single base substitution C T intron_variant MELA-AU 18 54507331 54507331 single base substitution A G intron_variant MELA-AU 18 54507457 54507457 single base substitution C T intron_variant MELA-AU 18 54508201 54508201 single base substitution C T intron_variant MELA-AU 18 54509838 54509838 single base substitution C T intron_variant MELA-AU 18 54510341 54510341 single base substitution C T intron_variant MELA-AU 18 54510399 54510399 single base substitution C T intron_variant MELA-AU 18 54510541 54510541 single base substitution C T intron_variant MELA-AU 18 54511346 54511346 single base substitution C T intron_variant MELA-AU 18 54512178 54512178 single base substitution C T intron_variant MELA-AU 18 54512474 54512474 single base substitution C T intron_variant MELA-AU 18 54512508 54512508 single base substitution C T intron_variant MELA-AU 18 54512535 54512535 single base substitution C T intron_variant MELA-AU 18 54512672 54512672 single base substitution A T intron_variant MELA-AU 18 54512852 54512852 single base substitution C T intron_variant MELA-AU 18 54513173 54513173 single base substitution T C intron_variant MELA-AU 18 54513246 54513246 single base substitution C T intron_variant MELA-AU 18 54513488 54513488 single base substitution T C intron_variant MELA-AU 18 54513580 54513580 single base substitution G A intron_variant MELA-AU 18 54513597 54513597 single base substitution C T intron_variant MELA-AU 18 54513725 54513725 single base substitution C T intron_variant MELA-AU 18 54514211 54514211 single base substitution G A intron_variant MELA-AU 18 54514476 54514476 single base substitution G A intron_variant MELA-AU 18 54515305 54515305 single base substitution C T intron_variant MELA-AU 18 54515517 54515517 single base substitution C T intron_variant MELA-AU 18 54515527 54515527 single base substitution G A intron_variant MELA-AU 18 54515571 54515571 single base substitution G A intron_variant MELA-AU 18 54515631 54515631 single base substitution T A intron_variant MELA-AU 18 54516243 54516243 single base substitution C T intron_variant MELA-AU 18 54516720 54516720 single base substitution C T intron_variant MELA-AU 18 54516748 54516748 single base substitution C T intron_variant MELA-AU 18 54517411 54517411 single base substitution C T intron_variant MELA-AU 18 54518442 54518461 deletion of <=200bp CCTCTGGCTTCATTTCTCAG - intron_variant MELA-AU 18 54519062 54519062 single base substitution C T intron_variant MELA-AU 18 54519363 54519363 single base substitution C T intron_variant MELA-AU 18 54519525 54519525 single base substitution C T intron_variant MELA-AU 18 54519940 54519940 single base substitution A T intron_variant MELA-AU 18 54520519 54520519 single base substitution C T intron_variant MELA-AU 18 54521355 54521355 single base substitution G A intron_variant MELA-AU 18 54521592 54521592 single base substitution G A intron_variant MELA-AU 18 54521729 54521729 single base substitution C T intron_variant MELA-AU 18 54522349 54522349 single base substitution A T intron_variant MELA-AU 18 54522475 54522475 single base substitution C T intron_variant MELA-AU 18 54522906 54522906 single base substitution C T intron_variant MELA-AU 18 54522956 54522956 single base substitution C T intron_variant MELA-AU 18 54523004 54523004 single base substitution T C intron_variant MELA-AU 18 54524177 54524177 single base substitution C T intron_variant MELA-AU 18 54524236 54524236 single base substitution C T intron_variant MELA-AU 18 54524335 54524335 single base substitution C A intron_variant MELA-AU 18 54524403 54524403 single base substitution G A intron_variant MELA-AU 18 54525133 54525133 single base substitution C T intron_variant MELA-AU 18 54525144 54525144 single base substitution C T intron_variant MELA-AU 18 54525170 54525170 deletion of <=200bp C - intron_variant MELA-AU 18 54525609 54525609 single base substitution C T intron_variant MELA-AU 18 54526818 54526818 single base substitution G A intron_variant MELA-AU 18 54527179 54527179 single base substitution T A intron_variant MELA-AU 18 54527516 54527516 single base substitution C T intron_variant MELA-AU 18 54527635 54527635 single base substitution C T intron_variant MELA-AU 18 54527818 54527818 single base substitution C T intron_variant MELA-AU 18 54528504 54528504 single base substitution C T intron_variant MELA-AU 18 54529570 54529570 single base substitution T A intron_variant MELA-AU 18 54530633 54530633 single base substitution G A intron_variant MELA-AU 18 54533001 54533001 single base substitution C T intron_variant MELA-AU 18 54533039 54533039 single base substitution A T intron_variant MELA-AU 18 54533416 54533416 single base substitution A C intron_variant MELA-AU 18 54533534 54533534 single base substitution C T intron_variant MELA-AU 18 54533641 54533641 single base substitution G A intron_variant MELA-AU 18 54533938 54533938 single base substitution T C intron_variant MELA-AU 18 54534241 54534241 single base substitution C T intron_variant MELA-AU 18 54534245 54534245 single base substitution T C intron_variant MELA-AU 18 54534265 54534265 single base substitution T C intron_variant MELA-AU 18 54534767 54534767 single base substitution G A intron_variant MELA-AU 18 54537122 54537122 single base substitution C T intron_variant MELA-AU 18 54537963 54537963 single base substitution C T intron_variant MELA-AU 18 54538266 54538266 single base substitution A G intron_variant MELA-AU 18 54538738 54538738 single base substitution A G intron_variant MELA-AU 18 54539191 54539191 single base substitution G A intron_variant MELA-AU 18 54539599 54539599 single base substitution C A intron_variant MELA-AU 18 54539677 54539677 deletion of <=200bp T - intron_variant MELA-AU 18 54540630 54540630 single base substitution A T intron_variant MELA-AU 18 54540709 54540709 single base substitution G A intron_variant MELA-AU 18 54542142 54542142 single base substitution T C intron_variant MELA-AU 18 54543159 54543159 single base substitution C T intron_variant MELA-AU 18 54543329 54543329 single base substitution G A intron_variant MELA-AU 18 54544840 54544840 single base substitution T G intron_variant MELA-AU 18 54544973 54544973 single base substitution T A intron_variant MELA-AU 18 54544975 54544975 single base substitution A T intron_variant MELA-AU 18 54546469 54546469 single base substitution C T intron_variant MELA-AU 18 54546984 54546984 single base substitution T G intron_variant MELA-AU 18 54547942 54547942 single base substitution C T intron_variant MELA-AU 18 54547943 54547944 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54547991 54547991 single base substitution C T intron_variant MELA-AU 18 54548162 54548162 single base substitution C T intron_variant MELA-AU 18 54548176 54548176 single base substitution C T intron_variant MELA-AU 18 54548633 54548633 single base substitution C T intron_variant MELA-AU 18 54548687 54548687 single base substitution G A intron_variant MELA-AU 18 54549042 54549042 single base substitution C T intron_variant MELA-AU 18 54549273 54549273 single base substitution C T intron_variant MELA-AU 18 54549361 54549361 single base substitution C T intron_variant MELA-AU 18 54549376 54549376 single base substitution C T intron_variant MELA-AU 18 54549377 54549377 single base substitution C T intron_variant MELA-AU 18 54549385 54549385 single base substitution C T intron_variant MELA-AU 18 54549805 54549805 single base substitution C T intron_variant MELA-AU 18 54549831 54549831 single base substitution C T intron_variant MELA-AU 18 54550201 54550201 single base substitution C T intron_variant MELA-AU 18 54550342 54550342 single base substitution G T intron_variant MELA-AU 18 54550420 54550420 single base substitution G A intron_variant MELA-AU 18 54551006 54551007 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 18 54551007 54551007 single base substitution C G intron_variant MELA-AU 18 54551337 54551337 single base substitution T C intron_variant MELA-AU 18 54551475 54551475 single base substitution C T intron_variant MELA-AU 18 54551636 54551636 single base substitution C T intron_variant MELA-AU 18 54551652 54551652 single base substitution G A intron_variant MELA-AU 18 54551676 54551676 single base substitution T A intron_variant MELA-AU 18 54551731 54551731 single base substitution C T intron_variant MELA-AU 18 54551974 54551974 single base substitution G A intron_variant MELA-AU 18 54552212 54552212 single base substitution C T intron_variant MELA-AU 18 54552803 54552803 single base substitution C T intron_variant MELA-AU 18 54552996 54552996 single base substitution C T intron_variant MELA-AU 18 54553115 54553115 single base substitution C T intron_variant MELA-AU 18 54553115 54553115 single base substitution C T upstream_gene_variant MELA-AU 18 54553732 54553732 single base substitution C T intron_variant MELA-AU 18 54553732 54553732 single base substitution C T upstream_gene_variant MELA-AU 18 54554271 54554271 single base substitution C T intron_variant MELA-AU 18 54554271 54554271 single base substitution C T upstream_gene_variant MELA-AU 18 54554471 54554471 single base substitution C T intron_variant MELA-AU 18 54554471 54554471 single base substitution C T upstream_gene_variant MELA-AU 18 54554554 54554554 single base substitution C T intron_variant MELA-AU 18 54554554 54554554 single base substitution C T upstream_gene_variant MELA-AU 18 54554805 54554805 single base substitution C T intron_variant MELA-AU 18 54554805 54554805 single base substitution C T upstream_gene_variant MELA-AU 18 54554806 54554806 single base substitution C T intron_variant MELA-AU 18 54554806 54554806 single base substitution C T upstream_gene_variant MELA-AU 18 54555030 54555030 single base substitution C T intron_variant MELA-AU 18 54555030 54555030 single base substitution C T upstream_gene_variant MELA-AU 18 54555374 54555374 single base substitution C T intron_variant MELA-AU 18 54555374 54555374 single base substitution C T upstream_gene_variant MELA-AU 18 54555430 54555430 single base substitution C T intron_variant MELA-AU 18 54555430 54555430 single base substitution C T upstream_gene_variant MELA-AU 18 54555897 54555898 deletion of <=200bp TT - intron_variant MELA-AU 18 54555897 54555898 deletion of <=200bp TT - upstream_gene_variant MELA-AU 18 54556046 54556046 single base substitution C T intron_variant MELA-AU 18 54556046 54556046 single base substitution C T upstream_gene_variant MELA-AU 18 54556241 54556241 single base substitution C T intron_variant MELA-AU 18 54556241 54556241 single base substitution C T upstream_gene_variant MELA-AU 18 54556294 54556294 single base substitution G A intron_variant MELA-AU 18 54556294 54556294 single base substitution G A upstream_gene_variant MELA-AU 18 54556568 54556568 single base substitution C T intron_variant MELA-AU 18 54556568 54556568 single base substitution C T upstream_gene_variant MELA-AU 18 54557153 54557153 single base substitution T A intron_variant MELA-AU 18 54557153 54557153 single base substitution T A upstream_gene_variant MELA-AU 18 54557758 54557758 single base substitution G T intron_variant MELA-AU 18 54557758 54557758 single base substitution G T upstream_gene_variant MELA-AU 18 54558230 54558230 single base substitution G A intron_variant MELA-AU 18 54558396 54558396 single base substitution T A intron_variant MELA-AU 18 54558754 54558755 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 54558892 54558892 single base substitution C T intron_variant MELA-AU 18 54559753 54559753 single base substitution C T intron_variant MELA-AU 18 54559827 54559827 single base substitution C T intron_variant MELA-AU 18 54559942 54559942 single base substitution C T intron_variant MELA-AU 18 54561535 54561536 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 18 54562052 54562052 single base substitution C T intron_variant MELA-AU 18 54562134 54562134 single base substitution G A intron_variant MELA-AU 18 54562563 54562563 single base substitution G A intron_variant MELA-AU 18 54563050 54563050 single base substitution C T intron_variant MELA-AU 18 54563651 54563651 single base substitution C T intron_variant MELA-AU 18 54564857 54564857 single base substitution T G intron_variant MELA-AU 18 54565662 54565663 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54565918 54565918 single base substitution C T intron_variant MELA-AU 18 54566055 54566055 single base substitution C A intron_variant MELA-AU 18 54566369 54566369 single base substitution C T intron_variant MELA-AU 18 54566765 54566765 single base substitution C T intron_variant MELA-AU 18 54567679 54567679 single base substitution T C intron_variant MELA-AU 18 54568091 54568091 single base substitution C T intron_variant MELA-AU 18 54568401 54568402 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54568746 54568746 single base substitution C T intron_variant MELA-AU 18 54569389 54569389 single base substitution C T intron_variant MELA-AU 18 54569894 54569894 single base substitution C T intron_variant MELA-AU 18 54569988 54569988 single base substitution G A intron_variant MELA-AU 18 54570685 54570685 single base substitution C T intron_variant MELA-AU 18 54570735 54570735 single base substitution C T intron_variant MELA-AU 18 54570771 54570771 single base substitution C T intron_variant MELA-AU 18 54570964 54570964 single base substitution C T intron_variant MELA-AU 18 54570997 54570997 single base substitution C T intron_variant MELA-AU 18 54571181 54571181 single base substitution C T intron_variant MELA-AU 18 54571897 54571897 single base substitution A T intron_variant MELA-AU 18 54572009 54572009 single base substitution C T intron_variant MELA-AU 18 54572280 54572280 single base substitution C T intron_variant MELA-AU 18 54572799 54572799 single base substitution C T intron_variant MELA-AU 18 54573487 54573487 single base substitution G A intron_variant MELA-AU 18 54573777 54573777 single base substitution T A intron_variant MELA-AU 18 54574098 54574098 single base substitution C T intron_variant MELA-AU 18 54574163 54574163 single base substitution C T intron_variant MELA-AU 18 54574737 54574737 single base substitution C T intron_variant MELA-AU 18 54574924 54574924 single base substitution C T intron_variant MELA-AU 18 54575028 54575028 single base substitution C T intron_variant MELA-AU 18 54575084 54575084 single base substitution C T intron_variant MELA-AU 18 54575191 54575191 single base substitution C T intron_variant MELA-AU 18 54575318 54575318 single base substitution C T intron_variant MELA-AU 18 54575892 54575892 single base substitution C T intron_variant MELA-AU 18 54576028 54576028 single base substitution C T intron_variant MELA-AU 18 54576077 54576077 single base substitution C T intron_variant MELA-AU 18 54576579 54576579 single base substitution C T intron_variant MELA-AU 18 54576764 54576764 single base substitution C T intron_variant MELA-AU 18 54577044 54577044 single base substitution C T intron_variant MELA-AU 18 54577162 54577163 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54578440 54578440 single base substitution C T intron_variant MELA-AU 18 54578970 54578970 single base substitution T C intron_variant MELA-AU 18 54579932 54579932 single base substitution C T intron_variant MELA-AU 18 54580524 54580524 single base substitution A T intron_variant MELA-AU 18 54580606 54580606 single base substitution C A intron_variant MELA-AU 18 54580657 54580657 single base substitution C T intron_variant MELA-AU 18 54580745 54580745 single base substitution G A intron_variant MELA-AU 18 54581330 54581330 single base substitution C T intron_variant MELA-AU 18 54583520 54583520 single base substitution C T intron_variant MELA-AU 18 54583643 54583643 single base substitution C T intron_variant MELA-AU 18 54584335 54584335 single base substitution G A intron_variant MELA-AU 18 54584421 54584421 single base substitution C T intron_variant MELA-AU 18 54584446 54584446 single base substitution G A intron_variant MELA-AU 18 54584449 54584449 single base substitution C T intron_variant MELA-AU 18 54584479 54584479 single base substitution T G intron_variant MELA-AU 18 54584868 54584868 single base substitution G T intron_variant MELA-AU 18 54584874 54584874 single base substitution T C intron_variant MELA-AU 18 54585712 54585712 single base substitution A G intron_variant MELA-AU 18 54585725 54585725 single base substitution G C intron_variant MELA-AU 18 54585764 54585764 single base substitution T C intron_variant MELA-AU 18 54586097 54586097 single base substitution C T intron_variant MELA-AU 18 54586152 54586152 single base substitution C T intron_variant MELA-AU 18 54586300 54586300 single base substitution C T intron_variant MELA-AU 18 54587312 54587312 single base substitution C T intron_variant MELA-AU 18 54587340 54587340 single base substitution C T intron_variant MELA-AU 18 54587391 54587391 single base substitution C T intron_variant MELA-AU 18 54587504 54587504 single base substitution G A intron_variant MELA-AU 18 54587660 54587660 single base substitution G A intron_variant MELA-AU 18 54587686 54587686 single base substitution C T intron_variant MELA-AU 18 54587873 54587873 single base substitution C T intron_variant MELA-AU 18 54588469 54588469 single base substitution G A intron_variant MELA-AU 18 54588974 54588974 single base substitution C T intron_variant MELA-AU 18 54589247 54589247 single base substitution G A intron_variant MELA-AU 18 54589479 54589479 single base substitution C T intron_variant MELA-AU 18 54589685 54589685 single base substitution G T intron_variant MELA-AU 18 54589804 54589804 single base substitution G A intron_variant MELA-AU 18 54589870 54589870 single base substitution G C intron_variant MELA-AU 18 54590233 54590233 single base substitution T A intron_variant MELA-AU 18 54590253 54590253 single base substitution C T intron_variant MELA-AU 18 54590385 54590385 single base substitution C T intron_variant MELA-AU 18 54591200 54591200 single base substitution C T intron_variant MELA-AU 18 54591200 54591200 single base substitution C T missense_variant P1159S 3475C>T MELA-AU 18 54591200 54591200 single base substitution C T missense_variant P1192S 3574C>T MELA-AU 18 54591200 54591200 single base substitution C T missense_variant P55S 163C>T MELA-AU 18 54591354 54591354 single base substitution C T intron_variant MELA-AU 18 54591414 54591414 single base substitution C T intron_variant MELA-AU 18 54592166 54592166 single base substitution C T intron_variant MELA-AU 18 54592369 54592369 single base substitution C T intron_variant MELA-AU 18 54592549 54592549 single base substitution C T intron_variant MELA-AU 18 54593244 54593244 single base substitution C T intron_variant MELA-AU 18 54593730 54593730 single base substitution G A intron_variant MELA-AU 18 54593837 54593837 single base substitution C T intron_variant MELA-AU 18 54594324 54594324 single base substitution G T intron_variant MELA-AU 18 54594410 54594410 single base substitution C T intron_variant MELA-AU 18 54594720 54594720 single base substitution C T intron_variant MELA-AU 18 54594813 54594813 single base substitution C A intron_variant MELA-AU 18 54594866 54594866 single base substitution C T intron_variant MELA-AU 18 54595442 54595442 single base substitution C T intron_variant MELA-AU 18 54595727 54595727 single base substitution C T intron_variant MELA-AU 18 54595816 54595816 single base substitution T C intron_variant MELA-AU 18 54596378 54596378 single base substitution G A intron_variant MELA-AU 18 54597041 54597041 single base substitution A G intron_variant MELA-AU 18 54597183 54597183 single base substitution C T intron_variant MELA-AU 18 54597283 54597283 single base substitution C T intron_variant MELA-AU 18 54597384 54597384 single base substitution A G intron_variant MELA-AU 18 54597607 54597607 single base substitution C T intron_variant MELA-AU 18 54597771 54597771 single base substitution G A intron_variant MELA-AU 18 54598056 54598056 single base substitution C T intron_variant MELA-AU 18 54598258 54598258 single base substitution C T intron_variant MELA-AU 18 54598258 54598258 single base substitution C T upstream_gene_variant MELA-AU 18 54598972 54598972 single base substitution C T intron_variant MELA-AU 18 54598972 54598972 single base substitution C T upstream_gene_variant MELA-AU 18 54599208 54599208 single base substitution C T intron_variant MELA-AU 18 54599208 54599208 single base substitution C T upstream_gene_variant MELA-AU 18 54599406 54599406 single base substitution T G intron_variant MELA-AU 18 54599406 54599406 single base substitution T G upstream_gene_variant MELA-AU 18 54599816 54599816 single base substitution A T intron_variant MELA-AU 18 54599816 54599816 single base substitution A T upstream_gene_variant MELA-AU 18 54599973 54599973 single base substitution C T intron_variant MELA-AU 18 54599973 54599973 single base substitution C T upstream_gene_variant MELA-AU 18 54600152 54600152 single base substitution C T intron_variant MELA-AU 18 54600152 54600152 single base substitution C T upstream_gene_variant MELA-AU 18 54600546 54600546 single base substitution G A intron_variant MELA-AU 18 54600546 54600546 single base substitution G A upstream_gene_variant MELA-AU 18 54601269 54601269 single base substitution C T intron_variant MELA-AU 18 54601269 54601269 single base substitution C T upstream_gene_variant MELA-AU 18 54601620 54601620 single base substitution C A intron_variant MELA-AU 18 54601620 54601620 single base substitution C A upstream_gene_variant MELA-AU 18 54601777 54601777 single base substitution C T intron_variant MELA-AU 18 54601777 54601777 single base substitution C T upstream_gene_variant MELA-AU 18 54602717 54602717 single base substitution C T intron_variant MELA-AU 18 54602717 54602717 single base substitution C T upstream_gene_variant MELA-AU 18 54602988 54602988 single base substitution C T intron_variant MELA-AU 18 54602988 54602988 single base substitution C T upstream_gene_variant MELA-AU 18 54603078 54603078 single base substitution C T exon_variant MELA-AU 18 54603078 54603078 single base substitution C T intron_variant MELA-AU 18 54603078 54603078 single base substitution C T missense_variant A121V 362C>T MELA-AU 18 54603078 54603078 single base substitution C T missense_variant A1225V 3674C>T MELA-AU 18 54603078 54603078 single base substitution C T missense_variant A1258V 3773C>T MELA-AU 18 54603559 54603559 single base substitution C T intron_variant MELA-AU 18 54603629 54603629 single base substitution C T intron_variant MELA-AU 18 54603754 54603754 single base substitution C T intron_variant MELA-AU 18 54603959 54603959 single base substitution G A intron_variant MELA-AU 18 54604234 54604234 single base substitution C T intron_variant MELA-AU 18 54604757 54604757 single base substitution G T intron_variant MELA-AU 18 54604963 54604963 single base substitution A T intron_variant MELA-AU 18 54605939 54605939 single base substitution C T downstream_gene_variant MELA-AU 18 54605939 54605939 single base substitution C T intron_variant MELA-AU 18 54606039 54606039 single base substitution A T downstream_gene_variant MELA-AU 18 54606039 54606039 single base substitution A T intron_variant MELA-AU 18 54606202 54606202 single base substitution C T downstream_gene_variant MELA-AU 18 54606202 54606202 single base substitution C T intron_variant MELA-AU 18 54606354 54606354 single base substitution C T downstream_gene_variant MELA-AU 18 54606354 54606354 single base substitution C T intron_variant MELA-AU 18 54606599 54606599 single base substitution C T 3_prime_UTR_variant MELA-AU 18 54606599 54606599 single base substitution C T downstream_gene_variant MELA-AU 18 54606599 54606599 single base substitution C T intron_variant MELA-AU 18 54606599 54606599 single base substitution C T stop_gained Q1314* 3940C>T MELA-AU 18 54606599 54606599 single base substitution C T stop_gained Q1347* 4039C>T MELA-AU 18 54606664 54606664 single base substitution C T downstream_gene_variant MELA-AU 18 54606664 54606664 single base substitution C T intron_variant MELA-AU 18 54607631 54607631 single base substitution T A downstream_gene_variant MELA-AU 18 54607631 54607631 single base substitution T A intron_variant MELA-AU 18 54607994 54607994 single base substitution C T downstream_gene_variant MELA-AU 18 54607994 54607994 single base substitution C T intron_variant MELA-AU 18 54607995 54607995 single base substitution C T downstream_gene_variant MELA-AU 18 54607995 54607995 single base substitution C T intron_variant MELA-AU 18 54608076 54608076 single base substitution C T downstream_gene_variant MELA-AU 18 54608076 54608076 single base substitution C T intron_variant MELA-AU 18 54608108 54608108 single base substitution C T downstream_gene_variant MELA-AU 18 54608108 54608108 single base substitution C T intron_variant MELA-AU 18 54608122 54608122 single base substitution C T downstream_gene_variant MELA-AU 18 54608122 54608122 single base substitution C T intron_variant MELA-AU 18 54608578 54608578 single base substitution A T downstream_gene_variant MELA-AU 18 54608578 54608578 single base substitution A T intron_variant MELA-AU 18 54608714 54608714 single base substitution A G downstream_gene_variant MELA-AU 18 54608714 54608714 single base substitution A G intron_variant MELA-AU 18 54608823 54608823 single base substitution C T downstream_gene_variant MELA-AU 18 54608823 54608823 single base substitution C T intron_variant MELA-AU 18 54609504 54609504 single base substitution G A downstream_gene_variant MELA-AU 18 54609504 54609504 single base substitution G A intron_variant MELA-AU 18 54609668 54609668 single base substitution T C downstream_gene_variant MELA-AU 18 54609668 54609668 single base substitution T C intron_variant MELA-AU 18 54609822 54609822 single base substitution A T downstream_gene_variant MELA-AU 18 54609822 54609822 single base substitution A T intron_variant MELA-AU 18 54609834 54609834 single base substitution T C downstream_gene_variant MELA-AU 18 54609834 54609834 single base substitution T C intron_variant MELA-AU 18 54610691 54610691 single base substitution A T downstream_gene_variant MELA-AU 18 54610691 54610691 single base substitution A T intron_variant MELA-AU 18 54611280 54611280 single base substitution C T intron_variant MELA-AU 18 54611903 54611903 single base substitution C T intron_variant MELA-AU 18 54612048 54612048 single base substitution C T intron_variant MELA-AU 18 54612330 54612331 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54612726 54612726 single base substitution C T intron_variant MELA-AU 18 54612941 54612941 single base substitution G A intron_variant MELA-AU 18 54612998 54612998 single base substitution C T intron_variant MELA-AU 18 54613211 54613211 single base substitution G A intron_variant MELA-AU 18 54614540 54614540 single base substitution C T intron_variant MELA-AU 18 54615377 54615377 single base substitution C T intron_variant MELA-AU 18 54616136 54616136 single base substitution C T intron_variant MELA-AU 18 54616216 54616216 single base substitution C T intron_variant MELA-AU 18 54616608 54616608 single base substitution T C intron_variant MELA-AU 18 54616740 54616740 single base substitution T A intron_variant MELA-AU 18 54616894 54616894 single base substitution T C intron_variant MELA-AU 18 54617189 54617189 single base substitution A G intron_variant MELA-AU 18 54617195 54617195 single base substitution C T intron_variant MELA-AU 18 54617379 54617379 single base substitution C T intron_variant MELA-AU 18 54617491 54617491 single base substitution C T intron_variant MELA-AU 18 54617733 54617734 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 54617851 54617851 single base substitution C T intron_variant MELA-AU 18 54618225 54618225 single base substitution C T intron_variant MELA-AU 18 54618226 54618226 single base substitution C T intron_variant MELA-AU 18 54618332 54618332 single base substitution C T intron_variant MELA-AU 18 54618498 54618498 single base substitution C T intron_variant MELA-AU 18 54619308 54619308 single base substitution C T intron_variant MELA-AU 18 54619691 54619691 single base substitution T C intron_variant MELA-AU 18 54620631 54620631 single base substitution C T intron_variant MELA-AU 18 54620645 54620645 single base substitution G A intron_variant MELA-AU 18 54621810 54621811 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54621956 54621956 single base substitution A T intron_variant MELA-AU 18 54622042 54622042 single base substitution G A intron_variant MELA-AU 18 54622210 54622210 single base substitution C T intron_variant MELA-AU 18 54622439 54622439 single base substitution C T intron_variant MELA-AU 18 54622502 54622502 single base substitution C T intron_variant MELA-AU 18 54622737 54622737 single base substitution T C intron_variant MELA-AU 18 54623044 54623044 single base substitution C T intron_variant MELA-AU 18 54623263 54623264 multiple base substitution (>=2bp and <=200bp) GC AA intron_variant MELA-AU 18 54623735 54623735 single base substitution C T intron_variant MELA-AU 18 54623919 54623919 single base substitution C T intron_variant MELA-AU 18 54624056 54624056 single base substitution C T intron_variant MELA-AU 18 54625036 54625036 single base substitution C T intron_variant MELA-AU 18 54625036 54625036 single base substitution C T upstream_gene_variant MELA-AU 18 54625220 54625220 single base substitution C T intron_variant MELA-AU 18 54625220 54625220 single base substitution C T upstream_gene_variant MELA-AU 18 54625800 54625800 single base substitution C T intron_variant MELA-AU 18 54625800 54625800 single base substitution C T upstream_gene_variant MELA-AU 18 54625806 54625806 single base substitution C T intron_variant MELA-AU 18 54625806 54625806 single base substitution C T upstream_gene_variant MELA-AU 18 54626176 54626176 single base substitution C T intron_variant MELA-AU 18 54626176 54626176 single base substitution C T upstream_gene_variant MELA-AU 18 54627053 54627053 single base substitution C T intron_variant MELA-AU 18 54627053 54627053 single base substitution C T upstream_gene_variant MELA-AU 18 54627092 54627092 single base substitution C T intron_variant MELA-AU 18 54627092 54627092 single base substitution C T upstream_gene_variant MELA-AU 18 54627111 54627111 single base substitution C T intron_variant MELA-AU 18 54627111 54627111 single base substitution C T upstream_gene_variant MELA-AU 18 54627296 54627296 single base substitution C T intron_variant MELA-AU 18 54627296 54627296 single base substitution C T upstream_gene_variant MELA-AU 18 54627445 54627445 single base substitution C T intron_variant MELA-AU 18 54627445 54627445 single base substitution C T upstream_gene_variant MELA-AU 18 54627898 54627898 single base substitution C T intron_variant MELA-AU 18 54627898 54627898 single base substitution C T upstream_gene_variant MELA-AU 18 54628941 54628941 single base substitution C T intron_variant MELA-AU 18 54628941 54628941 single base substitution C T upstream_gene_variant MELA-AU 18 54629077 54629077 single base substitution C T intron_variant MELA-AU 18 54629077 54629077 single base substitution C T upstream_gene_variant MELA-AU 18 54629200 54629200 single base substitution G C intron_variant MELA-AU 18 54629200 54629200 single base substitution G C upstream_gene_variant MELA-AU 18 54629257 54629257 single base substitution G A intron_variant MELA-AU 18 54629257 54629257 single base substitution G A upstream_gene_variant MELA-AU 18 54629351 54629351 single base substitution T A intron_variant MELA-AU 18 54629351 54629351 single base substitution T A upstream_gene_variant MELA-AU 18 54629662 54629663 multiple base substitution (>=2bp and <=200bp) TT GA intron_variant MELA-AU 18 54629662 54629663 multiple base substitution (>=2bp and <=200bp) TT GA missense_variant F1323D 3967TT>GA MELA-AU 18 54629662 54629663 multiple base substitution (>=2bp and <=200bp) TT GA missense_variant F1356D 4066TT>GA MELA-AU 18 54629662 54629663 multiple base substitution (>=2bp and <=200bp) TT GA splice_region_variant MELA-AU 18 54629662 54629663 multiple base substitution (>=2bp and <=200bp) TT GA upstream_gene_variant MELA-AU 18 54629966 54629966 single base substitution C T intron_variant MELA-AU 18 54630332 54630332 single base substitution C T intron_variant MELA-AU 18 54630583 54630583 single base substitution C T intron_variant MELA-AU 18 54630688 54630688 single base substitution C T intron_variant MELA-AU 18 54632223 54632223 single base substitution T C intron_variant MELA-AU 18 54632642 54632642 single base substitution C T intron_variant MELA-AU 18 54632947 54632947 single base substitution T G intron_variant MELA-AU 18 54633016 54633016 single base substitution A T intron_variant MELA-AU 18 54633700 54633700 single base substitution C T intron_variant MELA-AU 18 54633907 54633907 single base substitution C T intron_variant MELA-AU 18 54634562 54634562 single base substitution T G intron_variant MELA-AU 18 54634651 54634651 single base substitution A T intron_variant MELA-AU 18 54634993 54634993 single base substitution C T intron_variant MELA-AU 18 54635239 54635239 single base substitution G A intron_variant MELA-AU 18 54635720 54635720 single base substitution G A intron_variant MELA-AU 18 54635912 54635912 single base substitution T A intron_variant MELA-AU 18 54636139 54636139 single base substitution C T intron_variant MELA-AU 18 54636268 54636268 single base substitution C T intron_variant MELA-AU 18 54636417 54636417 single base substitution C T intron_variant MELA-AU 18 54636655 54636655 single base substitution C T intron_variant MELA-AU 18 54637032 54637032 single base substitution T G intron_variant MELA-AU 18 54637452 54637452 single base substitution G A intron_variant MELA-AU 18 54637718 54637718 single base substitution T G intron_variant MELA-AU 18 54638031 54638031 single base substitution C T intron_variant MELA-AU 18 54638330 54638330 single base substitution C T intron_variant MELA-AU 18 54639087 54639087 single base substitution C T intron_variant MELA-AU 18 54639495 54639495 single base substitution T C intron_variant MELA-AU 18 54640297 54640297 single base substitution C T intron_variant MELA-AU 18 54640485 54640485 single base substitution C T intron_variant MELA-AU 18 54640631 54640631 single base substitution C T intron_variant MELA-AU 18 54641181 54641181 single base substitution C T intron_variant MELA-AU 18 54641212 54641212 single base substitution C T intron_variant MELA-AU 18 54641249 54641249 single base substitution C T intron_variant MELA-AU 18 54641353 54641353 single base substitution C T intron_variant MELA-AU 18 54641849 54641849 single base substitution C T intron_variant MELA-AU 18 54642266 54642266 single base substitution C T intron_variant MELA-AU 18 54642461 54642461 single base substitution C T intron_variant MELA-AU 18 54642679 54642679 single base substitution G A intron_variant MELA-AU 18 54643757 54643758 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 54644240 54644240 single base substitution C T intron_variant MELA-AU 18 54644443 54644443 single base substitution C T intron_variant MELA-AU 18 54644671 54644671 single base substitution C T intron_variant MELA-AU 18 54645365 54645365 single base substitution G A intron_variant MELA-AU 18 54645828 54645828 single base substitution C T intron_variant MELA-AU 18 54646187 54646187 single base substitution C T intron_variant MELA-AU 18 54646643 54646643 single base substitution C T intron_variant MELA-AU 18 54647240 54647240 single base substitution C T intron_variant MELA-AU 18 54648201 54648201 single base substitution C T intron_variant MELA-AU 18 54648931 54648931 single base substitution C T intron_variant MELA-AU 18 54649195 54649195 single base substitution T C intron_variant MELA-AU 18 54650017 54650017 single base substitution C T intron_variant MELA-AU 18 54650394 54650394 single base substitution C T intron_variant MELA-AU 18 54650405 54650405 single base substitution C T intron_variant MELA-AU 18 54650519 54650519 single base substitution C T intron_variant MELA-AU 18 54651164 54651164 single base substitution C T intron_variant MELA-AU 18 54651288 54651288 single base substitution T A intron_variant MELA-AU 18 54651855 54651855 single base substitution C T intron_variant MELA-AU 18 54652344 54652344 single base substitution C T intron_variant MELA-AU 18 54653454 54653454 single base substitution C T intron_variant MELA-AU 18 54653925 54653926 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54654308 54654308 single base substitution C T intron_variant MELA-AU 18 54654565 54654565 single base substitution C T intron_variant MELA-AU 18 54654906 54654906 single base substitution C T intron_variant MELA-AU 18 54654919 54654919 single base substitution T A intron_variant MELA-AU 18 54655005 54655005 single base substitution C T intron_variant MELA-AU 18 54655199 54655199 single base substitution C T intron_variant MELA-AU 18 54655320 54655320 single base substitution C T intron_variant MELA-AU 18 54655674 54655674 single base substitution C T intron_variant MELA-AU 18 54655793 54655793 single base substitution C T intron_variant MELA-AU 18 54655805 54655805 single base substitution G A intron_variant MELA-AU 18 54655968 54655968 single base substitution C T intron_variant MELA-AU 18 54656047 54656047 single base substitution A T intron_variant MELA-AU 18 54656621 54656621 single base substitution C T intron_variant MELA-AU 18 54656626 54656626 single base substitution T C intron_variant MELA-AU 18 54657379 54657379 single base substitution C T intron_variant MELA-AU 18 54657544 54657544 single base substitution G A intron_variant MELA-AU 18 54658408 54658408 single base substitution C T intron_variant MELA-AU 18 54658611 54658611 single base substitution C T intron_variant MELA-AU 18 54659351 54659351 single base substitution C T intron_variant MELA-AU 18 54659469 54659469 single base substitution C T intron_variant MELA-AU 18 54659679 54659679 single base substitution G A intron_variant MELA-AU 18 54660056 54660056 single base substitution G A intron_variant MELA-AU 18 54660184 54660184 single base substitution G A intron_variant MELA-AU 18 54660246 54660246 single base substitution T A intron_variant MELA-AU 18 54660728 54660728 single base substitution C T intron_variant MELA-AU 18 54660995 54660995 single base substitution C T intron_variant MELA-AU 18 54661478 54661478 single base substitution C T intron_variant MELA-AU 18 54661803 54661803 single base substitution C T intron_variant MELA-AU 18 54661807 54661807 single base substitution G A intron_variant MELA-AU 18 54662064 54662064 single base substitution C T intron_variant MELA-AU 18 54662419 54662419 single base substitution A G intron_variant MELA-AU 18 54662744 54662744 single base substitution T C intron_variant MELA-AU 18 54662822 54662822 single base substitution C T intron_variant MELA-AU 18 54662866 54662866 single base substitution C T intron_variant MELA-AU 18 54663363 54663363 single base substitution C T intron_variant MELA-AU 18 54663719 54663719 single base substitution T G intron_variant MELA-AU 18 54663965 54663965 single base substitution C T intron_variant MELA-AU 18 54664030 54664030 single base substitution C T intron_variant MELA-AU 18 54664055 54664055 single base substitution C T intron_variant MELA-AU 18 54665166 54665166 single base substitution C G intron_variant MELA-AU 18 54665239 54665239 single base substitution G C intron_variant MELA-AU 18 54665556 54665556 single base substitution C T intron_variant MELA-AU 18 54665650 54665650 single base substitution C T intron_variant MELA-AU 18 54666984 54666984 single base substitution C T intron_variant MELA-AU 18 54667219 54667219 single base substitution C T intron_variant MELA-AU 18 54667853 54667853 single base substitution G A intron_variant MELA-AU 18 54668161 54668161 single base substitution C T intron_variant MELA-AU 18 54668942 54668942 single base substitution C T intron_variant MELA-AU 18 54669496 54669496 single base substitution T C intron_variant MELA-AU 18 54670660 54670660 single base substitution C T intron_variant MELA-AU 18 54671125 54671125 single base substitution T A intron_variant MELA-AU 18 54671402 54671402 single base substitution C T intron_variant MELA-AU 18 54671789 54671790 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 54671881 54671881 single base substitution T C intron_variant MELA-AU 18 54672606 54672606 single base substitution C A intron_variant MELA-AU 18 54672734 54672734 single base substitution C T intron_variant MELA-AU 18 54674051 54674051 single base substitution T A intron_variant MELA-AU 18 54674467 54674467 single base substitution C T intron_variant MELA-AU 18 54674585 54674585 single base substitution T C intron_variant MELA-AU 18 54674907 54674907 single base substitution G T intron_variant MELA-AU 18 54675283 54675283 single base substitution T G intron_variant MELA-AU 18 54675340 54675340 single base substitution C T intron_variant MELA-AU 18 54675383 54675383 single base substitution C T intron_variant MELA-AU 18 54675460 54675460 single base substitution C T intron_variant MELA-AU 18 54675514 54675514 single base substitution C T intron_variant MELA-AU 18 54675703 54675703 single base substitution C T intron_variant MELA-AU 18 54675945 54675945 single base substitution C T intron_variant MELA-AU 18 54676039 54676039 single base substitution C T intron_variant MELA-AU 18 54676620 54676620 deletion of <=200bp T - intron_variant MELA-AU 18 54677078 54677078 single base substitution C T intron_variant MELA-AU 18 54677078 54677078 single base substitution C T stop_gained Q35* 103C>T MELA-AU 18 54677198 54677198 single base substitution C T 3_prime_UTR_variant MELA-AU 18 54677198 54677198 single base substitution C T intron_variant MELA-AU 18 54677448 54677448 single base substitution C T 3_prime_UTR_variant MELA-AU 18 54677448 54677448 single base substitution C T intron_variant MELA-AU 18 54677887 54677887 single base substitution A G downstream_gene_variant MELA-AU 18 54677887 54677887 single base substitution A G intron_variant MELA-AU 18 54678239 54678239 single base substitution C T downstream_gene_variant MELA-AU 18 54678239 54678239 single base substitution C T intron_variant MELA-AU 18 54678274 54678274 single base substitution C T downstream_gene_variant MELA-AU 18 54678274 54678274 single base substitution C T intron_variant MELA-AU 18 54678546 54678546 single base substitution A G downstream_gene_variant MELA-AU 18 54678546 54678546 single base substitution A G intron_variant MELA-AU 18 54678733 54678733 single base substitution C T downstream_gene_variant MELA-AU 18 54678733 54678733 single base substitution C T intron_variant MELA-AU 18 54679190 54679190 single base substitution A C downstream_gene_variant MELA-AU 18 54679190 54679190 single base substitution A C intron_variant MELA-AU 18 54679608 54679608 single base substitution G A downstream_gene_variant MELA-AU 18 54679608 54679608 single base substitution G A intron_variant MELA-AU 18 54680082 54680082 single base substitution C T downstream_gene_variant MELA-AU 18 54680082 54680082 single base substitution C T intron_variant MELA-AU 18 54680762 54680762 single base substitution T C downstream_gene_variant MELA-AU 18 54680762 54680762 single base substitution T C intron_variant MELA-AU 18 54681000 54681000 single base substitution C T downstream_gene_variant MELA-AU 18 54681000 54681000 single base substitution C T intron_variant MELA-AU 18 54681107 54681107 single base substitution C T downstream_gene_variant MELA-AU 18 54681107 54681107 single base substitution C T intron_variant MELA-AU 18 54681511 54681511 single base substitution C T downstream_gene_variant MELA-AU 18 54681511 54681511 single base substitution C T intron_variant MELA-AU 18 54682078 54682078 single base substitution T A downstream_gene_variant MELA-AU 18 54682078 54682078 single base substitution T A intron_variant MELA-AU 18 54682536 54682536 single base substitution G A downstream_gene_variant MELA-AU 18 54682536 54682536 single base substitution G A intron_variant MELA-AU 18 54682835 54682835 single base substitution G A intron_variant MELA-AU 18 54683452 54683453 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54683612 54683612 single base substitution C T intron_variant MELA-AU 18 54683661 54683661 single base substitution C T intron_variant MELA-AU 18 54683873 54683873 single base substitution T C intron_variant MELA-AU 18 54684279 54684279 single base substitution C T intron_variant MELA-AU 18 54685369 54685369 single base substitution C T intron_variant MELA-AU 18 54685459 54685459 single base substitution C T intron_variant MELA-AU 18 54686916 54686916 single base substitution A G intron_variant MELA-AU 18 54687209 54687209 single base substitution C T intron_variant MELA-AU 18 54687498 54687498 single base substitution T G intron_variant MELA-AU 18 54689366 54689366 single base substitution C T downstream_gene_variant MELA-AU 18 54689366 54689366 single base substitution C T intron_variant MELA-AU 18 54689440 54689440 single base substitution T C downstream_gene_variant MELA-AU 18 54689440 54689440 single base substitution T C intron_variant MELA-AU 18 54689559 54689559 single base substitution C T downstream_gene_variant MELA-AU 18 54689559 54689559 single base substitution C T intron_variant MELA-AU 18 54689641 54689641 single base substitution G A downstream_gene_variant MELA-AU 18 54689641 54689641 single base substitution G A intron_variant MELA-AU 18 54689787 54689788 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 54689787 54689788 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 54690840 54690840 single base substitution G A downstream_gene_variant MELA-AU 18 54690840 54690840 single base substitution G A intron_variant MELA-AU 18 54691092 54691092 single base substitution C T downstream_gene_variant MELA-AU 18 54691092 54691092 single base substitution C T intron_variant MELA-AU 18 54691301 54691301 single base substitution C T downstream_gene_variant MELA-AU 18 54691301 54691301 single base substitution C T intron_variant MELA-AU 18 54691716 54691716 single base substitution C T downstream_gene_variant MELA-AU 18 54691716 54691716 single base substitution C T intron_variant MELA-AU 18 54692238 54692239 multiple base substitution (>=2bp and <=200bp) AT TC downstream_gene_variant MELA-AU 18 54692238 54692239 multiple base substitution (>=2bp and <=200bp) AT TC intron_variant MELA-AU 18 54692620 54692620 single base substitution A C downstream_gene_variant MELA-AU 18 54692620 54692620 single base substitution A C intron_variant MELA-AU 18 54692801 54692801 deletion of <=200bp T - downstream_gene_variant MELA-AU 18 54692801 54692801 deletion of <=200bp T - intron_variant MELA-AU 18 54692946 54692946 single base substitution G A downstream_gene_variant MELA-AU 18 54692946 54692946 single base substitution G A intron_variant MELA-AU 18 54693454 54693454 single base substitution C T intron_variant MELA-AU 18 54693690 54693690 single base substitution A G intron_variant MELA-AU 18 54693848 54693848 single base substitution C T intron_variant MELA-AU 18 54694228 54694228 single base substitution C T intron_variant MELA-AU 18 54694330 54694330 single base substitution G A synonymous_variant A1422A 4266G>A MELA-AU 18 54694330 54694330 single base substitution G A synonymous_variant A1455A 4365G>A MELA-AU 18 54694330 54694330 single base substitution G A synonymous_variant A32A 96G>A MELA-AU 18 54694504 54694504 single base substitution C T 3_prime_UTR_variant MELA-AU 18 54694538 54694538 single base substitution C T 3_prime_UTR_variant MELA-AU 18 54694610 54694610 single base substitution C T 3_prime_UTR_variant MELA-AU 18 54694610 54694610 single base substitution C T downstream_gene_variant MELA-AU 18 54694627 54694627 single base substitution C T 3_prime_UTR_variant MELA-AU 18 54694627 54694627 single base substitution C T downstream_gene_variant MELA-AU 18 54694979 54694979 single base substitution G A 3_prime_UTR_variant MELA-AU 18 54694979 54694979 single base substitution G A downstream_gene_variant MELA-AU 18 54696066 54696066 single base substitution C T 3_prime_UTR_variant MELA-AU 18 54696066 54696066 single base substitution C T downstream_gene_variant MELA-AU 18 54696240 54696240 single base substitution C T 3_prime_UTR_variant MELA-AU 18 54696240 54696240 single base substitution C T downstream_gene_variant MELA-AU 18 54697207 54697207 single base substitution C T 3_prime_UTR_variant MELA-AU 18 54697207 54697207 single base substitution C T downstream_gene_variant MELA-AU 18 54697353 54697353 single base substitution G A 3_prime_UTR_variant MELA-AU 18 54697353 54697353 single base substitution G A downstream_gene_variant MELA-AU 18 54697530 54697530 single base substitution A C 3_prime_UTR_variant MELA-AU 18 54697530 54697530 single base substitution A C downstream_gene_variant MELA-AU 18 54697590 54697590 single base substitution C T 3_prime_UTR_variant MELA-AU 18 54697590 54697590 single base substitution C T downstream_gene_variant MELA-AU 18 54698009 54698009 single base substitution T C 3_prime_UTR_variant MELA-AU 18 54698009 54698009 single base substitution T C downstream_gene_variant MELA-AU 18 54698028 54698028 single base substitution C T 3_prime_UTR_variant MELA-AU 18 54698028 54698028 single base substitution C T downstream_gene_variant MELA-AU 18 54698390 54698390 single base substitution C T 3_prime_UTR_variant MELA-AU 18 54698390 54698390 single base substitution C T downstream_gene_variant MELA-AU 18 54698422 54698422 single base substitution C T 3_prime_UTR_variant MELA-AU 18 54698422 54698422 single base substitution C T downstream_gene_variant MELA-AU 18 54698865 54698865 single base substitution C T downstream_gene_variant MELA-AU 18 54700141 54700141 single base substitution C T downstream_gene_variant MELA-AU 18 54700175 54700175 single base substitution C T downstream_gene_variant MELA-AU 18 54700390 54700390 single base substitution A G downstream_gene_variant MELA-AU 18 54700415 54700415 single base substitution C T downstream_gene_variant MELA-AU 18 54700453 54700453 single base substitution C T downstream_gene_variant MELA-AU 18 54700483 54700483 single base substitution C T downstream_gene_variant MELA-AU 18 54700487 54700487 single base substitution G A downstream_gene_variant MELA-AU 18 54700782 54700782 single base substitution C T downstream_gene_variant MELA-AU 18 54700804 54700804 single base substitution A G downstream_gene_variant MELA-AU 18 54700852 54700852 single base substitution C T downstream_gene_variant MELA-AU 18 54701379 54701379 single base substitution G A downstream_gene_variant MELA-AU 18 54701832 54701832 single base substitution C T downstream_gene_variant MELA-AU 18 54701861 54701861 single base substitution G A downstream_gene_variant MELA-AU 18 54702147 54702147 single base substitution C T downstream_gene_variant MELA-AU 18 54702595 54702595 single base substitution G A downstream_gene_variant MELA-AU 18 54702633 54702633 single base substitution A G downstream_gene_variant MELA-AU 18 54702682 54702682 single base substitution G A downstream_gene_variant MELA-AU 18 54702769 54702769 single base substitution C T downstream_gene_variant MELA-AU 18 54702856 54702856 single base substitution C T downstream_gene_variant MELA-AU 18 54703109 54703109 single base substitution G A downstream_gene_variant MELA-AU 18 54703401 54703401 single base substitution C T downstream_gene_variant MELA-AU 18 54703408 54703408 single base substitution C T downstream_gene_variant MELA-AU 18 54703585 54703585 single base substitution C T downstream_gene_variant ORCA-IN 18 54316049 54316049 single base substitution C A upstream_gene_variant ORCA-IN 18 54318698 54318698 single base substitution C T 5_prime_UTR_variant ORCA-IN 18 54318698 54318698 single base substitution C T upstream_gene_variant ORCA-IN 18 54337254 54337254 single base substitution C T intron_variant ORCA-IN 18 54353656 54353656 single base substitution C T downstream_gene_variant ORCA-IN 18 54353656 54353656 single base substitution C T intron_variant ORCA-IN 18 54371946 54371946 single base substitution C T intron_variant ORCA-IN 18 54381966 54381966 single base substitution G A intron_variant ORCA-IN 18 54383081 54383081 single base substitution C T intron_variant ORCA-IN 18 54383290 54383290 single base substitution G T intron_variant ORCA-IN 18 54384945 54384945 single base substitution G C intron_variant ORCA-IN 18 54384945 54384945 single base substitution G C upstream_gene_variant ORCA-IN 18 54438214 54438214 single base substitution C A intron_variant ORCA-IN 18 54454626 54454626 single base substitution C A intron_variant ORCA-IN 18 54534245 54534245 single base substitution T C intron_variant ORCA-IN 18 54551716 54551716 single base substitution G A intron_variant ORCA-IN 18 54581538 54581538 single base substitution T G intron_variant ORCA-IN 18 54589189 54589189 single base substitution G A intron_variant ORCA-IN 18 54591296 54591296 single base substitution G A intron_variant ORCA-IN 18 54591296 54591296 single base substitution G A missense_variant G1191R 3571G>A ORCA-IN 18 54591296 54591296 single base substitution G A missense_variant G1224R 3670G>A ORCA-IN 18 54591296 54591296 single base substitution G A missense_variant G87R 259G>A ORCA-IN 18 54607295 54607295 single base substitution G T downstream_gene_variant ORCA-IN 18 54607295 54607295 single base substitution G T intron_variant ORCA-IN 18 54625637 54625637 single base substitution C G intron_variant ORCA-IN 18 54625637 54625637 single base substitution C G upstream_gene_variant ORCA-IN 18 54631198 54631198 single base substitution C G intron_variant ORCA-IN 18 54648826 54648826 single base substitution C G intron_variant ORCA-IN 18 54651293 54651293 single base substitution G A intron_variant ORCA-IN 18 54655858 54655858 single base substitution G A intron_variant ORCA-IN 18 54660925 54660925 single base substitution G T intron_variant OV-AU 18 54324274 54324274 single base substitution T A intron_variant OV-AU 18 54326239 54326239 single base substitution G A intron_variant OV-AU 18 54337708 54337708 single base substitution C A intron_variant OV-AU 18 54350669 54350669 single base substitution C G downstream_gene_variant OV-AU 18 54350669 54350669 single base substitution C G intron_variant OV-AU 18 54368892 54368892 single base substitution T A intron_variant OV-AU 18 54374329 54374329 single base substitution A G intron_variant OV-AU 18 54377564 54377564 single base substitution G A intron_variant OV-AU 18 54378171 54378171 single base substitution G T intron_variant OV-AU 18 54386962 54386962 single base substitution A T intron_variant OV-AU 18 54386962 54386962 single base substitution A T upstream_gene_variant OV-AU 18 54388055 54388055 single base substitution T C intron_variant OV-AU 18 54388055 54388055 single base substitution T C upstream_gene_variant OV-AU 18 54392556 54392556 single base substitution A C intron_variant OV-AU 18 54403597 54403597 single base substitution A G intron_variant OV-AU 18 54416152 54416152 single base substitution C G intron_variant OV-AU 18 54421522 54421522 single base substitution G A intron_variant OV-AU 18 54421522 54421522 single base substitution G A upstream_gene_variant OV-AU 18 54433458 54433458 single base substitution G C intron_variant OV-AU 18 54442411 54442411 single base substitution C A intron_variant OV-AU 18 54445438 54445438 single base substitution G A intron_variant OV-AU 18 54448066 54448066 single base substitution T C intron_variant OV-AU 18 54458576 54458576 single base substitution T C intron_variant OV-AU 18 54462510 54462510 single base substitution C T intron_variant OV-AU 18 54463656 54463656 single base substitution G A intron_variant OV-AU 18 54466572 54466572 single base substitution A C intron_variant OV-AU 18 54466653 54466653 single base substitution T G intron_variant OV-AU 18 54467040 54467040 single base substitution G A intron_variant OV-AU 18 54480139 54480139 single base substitution T C intron_variant OV-AU 18 54480403 54480403 single base substitution G C intron_variant OV-AU 18 54491094 54491094 single base substitution T A intron_variant OV-AU 18 54491095 54491095 single base substitution C A intron_variant OV-AU 18 54492087 54492087 single base substitution G T intron_variant OV-AU 18 54519105 54519105 single base substitution G C intron_variant OV-AU 18 54521254 54521254 single base substitution A G intron_variant OV-AU 18 54522973 54522973 single base substitution T C intron_variant OV-AU 18 54525271 54525271 single base substitution G C intron_variant OV-AU 18 54525404 54525404 single base substitution C A intron_variant OV-AU 18 54528642 54528642 single base substitution G A intron_variant OV-AU 18 54529669 54529669 single base substitution G C intron_variant OV-AU 18 54532419 54532419 single base substitution G A intron_variant OV-AU 18 54542454 54542454 single base substitution G T intron_variant OV-AU 18 54554377 54554377 single base substitution A T intron_variant OV-AU 18 54554377 54554377 single base substitution A T upstream_gene_variant OV-AU 18 54565778 54565778 single base substitution T G intron_variant OV-AU 18 54574259 54574259 single base substitution G C intron_variant OV-AU 18 54575002 54575002 single base substitution C G intron_variant OV-AU 18 54584190 54584190 single base substitution A T intron_variant OV-AU 18 54589015 54589015 single base substitution C G intron_variant OV-AU 18 54592490 54592490 single base substitution C A intron_variant OV-AU 18 54604040 54604040 single base substitution A C intron_variant OV-AU 18 54604943 54604943 single base substitution G C intron_variant OV-AU 18 54608304 54608304 single base substitution A C downstream_gene_variant OV-AU 18 54608304 54608304 single base substitution A C intron_variant OV-AU 18 54611048 54611048 single base substitution G C intron_variant OV-AU 18 54611838 54611838 single base substitution T A intron_variant OV-AU 18 54615929 54615929 single base substitution C G intron_variant OV-AU 18 54620592 54620592 single base substitution T A intron_variant OV-AU 18 54621307 54621307 single base substitution A G intron_variant OV-AU 18 54621308 54621308 single base substitution G T intron_variant OV-AU 18 54627396 54627396 single base substitution A G intron_variant OV-AU 18 54627396 54627396 single base substitution A G upstream_gene_variant OV-AU 18 54636233 54636233 single base substitution T G intron_variant OV-AU 18 54639123 54639123 single base substitution G C intron_variant OV-AU 18 54639141 54639141 single base substitution G C intron_variant OV-AU 18 54650513 54650513 single base substitution C T intron_variant OV-AU 18 54658612 54658612 single base substitution G A intron_variant OV-AU 18 54660188 54660188 single base substitution C G intron_variant OV-AU 18 54678808 54678808 single base substitution G T downstream_gene_variant OV-AU 18 54678808 54678808 single base substitution G T intron_variant OV-AU 18 54680196 54680196 single base substitution G C downstream_gene_variant OV-AU 18 54680196 54680196 single base substitution G C intron_variant OV-AU 18 54680197 54680197 single base substitution C A downstream_gene_variant OV-AU 18 54680197 54680197 single base substitution C A intron_variant OV-AU 18 54702260 54702260 single base substitution C G downstream_gene_variant OV-AU 18 54702549 54702549 single base substitution T A downstream_gene_variant PACA-AU 18 54323569 54323569 single base substitution G T intron_variant PACA-AU 18 54324197 54324197 single base substitution G A intron_variant PACA-AU 18 54325278 54325278 single base substitution G A intron_variant PACA-AU 18 54332934 54332934 single base substitution G A intron_variant PACA-AU 18 54335722 54335722 single base substitution A G intron_variant PACA-AU 18 54338587 54338587 single base substitution T A intron_variant PACA-AU 18 54350370 54350370 single base substitution G T downstream_gene_variant PACA-AU 18 54350370 54350370 single base substitution G T intron_variant PACA-AU 18 54355974 54355974 single base substitution A G intron_variant PACA-AU 18 54357374 54357374 single base substitution A C intron_variant PACA-AU 18 54357374 54357374 single base substitution A C upstream_gene_variant PACA-AU 18 54368892 54368892 single base substitution T A intron_variant PACA-AU 18 54371606 54371606 insertion of <=200bp - A intron_variant PACA-AU 18 54373034 54373034 single base substitution C T intron_variant PACA-AU 18 54373087 54373087 single base substitution G A intron_variant PACA-AU 18 54374022 54374022 single base substitution G C intron_variant PACA-AU 18 54376855 54376855 single base substitution G C intron_variant PACA-AU 18 54383674 54383674 single base substitution A C intron_variant PACA-AU 18 54387417 54387417 single base substitution C A intron_variant PACA-AU 18 54387417 54387417 single base substitution C A upstream_gene_variant PACA-AU 18 54393339 54393339 single base substitution T G intron_variant PACA-AU 18 54395931 54395931 single base substitution C T intron_variant PACA-AU 18 54405277 54405277 single base substitution T A intron_variant PACA-AU 18 54419851 54419851 single base substitution A G intron_variant PACA-AU 18 54419851 54419851 single base substitution A G upstream_gene_variant PACA-AU 18 54423402 54423402 single base substitution A G intron_variant PACA-AU 18 54423402 54423402 single base substitution A G upstream_gene_variant PACA-AU 18 54426268 54426271 deletion of <=200bp TTTG - downstream_gene_variant PACA-AU 18 54426268 54426271 deletion of <=200bp TTTG - intron_variant PACA-AU 18 54429709 54429709 single base substitution C T intron_variant PACA-AU 18 54456236 54456236 single base substitution G C intron_variant PACA-AU 18 54460793 54460793 single base substitution A G intron_variant PACA-AU 18 54472898 54472898 single base substitution A G intron_variant PACA-AU 18 54473967 54473967 single base substitution G A intron_variant PACA-AU 18 54493273 54493273 single base substitution T C intron_variant PACA-AU 18 54496528 54496528 insertion of <=200bp - CA intron_variant PACA-AU 18 54498230 54498230 single base substitution G A intron_variant PACA-AU 18 54506714 54506714 single base substitution C T intron_variant PACA-AU 18 54507420 54507420 deletion of <=200bp G - intron_variant PACA-AU 18 54509720 54509720 single base substitution G C intron_variant PACA-AU 18 54510886 54510886 single base substitution C A intron_variant PACA-AU 18 54518320 54518320 single base substitution C T intron_variant PACA-AU 18 54522219 54522219 single base substitution G A intron_variant PACA-AU 18 54525847 54525847 single base substitution C T intron_variant PACA-AU 18 54527734 54527734 single base substitution T C intron_variant PACA-AU 18 54533365 54533365 single base substitution C A intron_variant PACA-AU 18 54544498 54544498 single base substitution G A intron_variant PACA-AU 18 54545782 54545782 deletion of <=200bp A - intron_variant PACA-AU 18 54548967 54548967 single base substitution C T intron_variant PACA-AU 18 54557212 54557212 single base substitution C T intron_variant PACA-AU 18 54557212 54557212 single base substitution C T upstream_gene_variant PACA-AU 18 54557833 54557833 single base substitution T C intron_variant PACA-AU 18 54557833 54557833 single base substitution T C upstream_gene_variant PACA-AU 18 54557937 54557937 single base substitution G T intron_variant PACA-AU 18 54557937 54557937 single base substitution G T upstream_gene_variant PACA-AU 18 54557938 54557938 single base substitution G T intron_variant PACA-AU 18 54557938 54557938 single base substitution G T upstream_gene_variant PACA-AU 18 54562543 54562543 single base substitution T A intron_variant PACA-AU 18 54562644 54562644 single base substitution A G intron_variant PACA-AU 18 54569095 54569095 single base substitution A G intron_variant PACA-AU 18 54570782 54570782 single base substitution C T intron_variant PACA-AU 18 54571786 54571786 single base substitution A C intron_variant PACA-AU 18 54579030 54579030 single base substitution T C intron_variant PACA-AU 18 54585163 54585163 single base substitution T C intron_variant PACA-AU 18 54606639 54606639 single base substitution A G downstream_gene_variant PACA-AU 18 54606639 54606639 single base substitution A G intron_variant PACA-AU 18 54606910 54606910 single base substitution A G downstream_gene_variant PACA-AU 18 54606910 54606910 single base substitution A G intron_variant PACA-AU 18 54614412 54614412 single base substitution C T intron_variant PACA-AU 18 54615221 54615221 single base substitution G A intron_variant PACA-AU 18 54616834 54616834 single base substitution G C intron_variant PACA-AU 18 54623490 54623490 single base substitution G T intron_variant PACA-AU 18 54637492 54637492 single base substitution T C intron_variant PACA-AU 18 54640074 54640074 single base substitution T G intron_variant PACA-AU 18 54640821 54640821 single base substitution C A intron_variant PACA-AU 18 54644833 54644833 single base substitution A G intron_variant PACA-AU 18 54650788 54650789 deletion of <=200bp AC - intron_variant PACA-AU 18 54653009 54653009 single base substitution T G intron_variant PACA-AU 18 54655902 54655902 single base substitution C A intron_variant PACA-AU 18 54664891 54664891 insertion of <=200bp - A intron_variant PACA-AU 18 54665032 54665032 deletion of <=200bp A - intron_variant PACA-AU 18 54668255 54668255 single base substitution A C intron_variant PACA-AU 18 54679230 54679230 single base substitution G T downstream_gene_variant PACA-AU 18 54679230 54679230 single base substitution G T intron_variant PACA-AU 18 54690824 54690824 single base substitution G A downstream_gene_variant PACA-AU 18 54690824 54690824 single base substitution G A intron_variant PACA-CA 18 54316739 54316739 single base substitution G T upstream_gene_variant PACA-CA 18 54321026 54321026 single base substitution C T intron_variant PACA-CA 18 54332733 54332733 deletion of <=200bp T - intron_variant PACA-CA 18 54340495 54340495 single base substitution C T intron_variant PACA-CA 18 54342560 54342560 single base substitution T A intron_variant PACA-CA 18 54351660 54351660 single base substitution G A downstream_gene_variant PACA-CA 18 54351660 54351660 single base substitution G A intron_variant PACA-CA 18 54355974 54355974 single base substitution A G intron_variant PACA-CA 18 54356517 54356518 deletion of <=200bp AG - intron_variant PACA-CA 18 54362345 54362345 single base substitution C T exon_variant PACA-CA 18 54362345 54362345 single base substitution C T intron_variant PACA-CA 18 54362345 54362345 single base substitution C T missense_variant R425C 1273C>T PACA-CA 18 54362975 54362975 single base substitution A C intron_variant PACA-CA 18 54369352 54369352 single base substitution G A intron_variant PACA-CA 18 54372543 54372543 single base substitution G T intron_variant PACA-CA 18 54376169 54376171 deletion of <=200bp AAC - intron_variant PACA-CA 18 54376670 54376670 single base substitution A G intron_variant PACA-CA 18 54378349 54378349 single base substitution T G intron_variant PACA-CA 18 54388493 54388493 single base substitution C T intron_variant PACA-CA 18 54388493 54388493 single base substitution C T upstream_gene_variant PACA-CA 18 54389782 54389782 single base substitution A T intron_variant PACA-CA 18 54391634 54391634 single base substitution G T intron_variant PACA-CA 18 54391881 54391882 deletion of <=200bp TA - intron_variant PACA-CA 18 54392140 54392140 single base substitution T G intron_variant PACA-CA 18 54395401 54395401 single base substitution T C intron_variant PACA-CA 18 54399722 54399722 single base substitution C T intron_variant PACA-CA 18 54401507 54401507 single base substitution G A intron_variant PACA-CA 18 54405533 54405533 single base substitution G A intron_variant PACA-CA 18 54406989 54406989 single base substitution T G intron_variant PACA-CA 18 54407715 54407715 deletion of <=200bp A - intron_variant PACA-CA 18 54413169 54413169 single base substitution G A intron_variant PACA-CA 18 54413275 54413275 single base substitution T C intron_variant PACA-CA 18 54413944 54413944 single base substitution A G intron_variant PACA-CA 18 54416165 54416165 single base substitution C A intron_variant PACA-CA 18 54417809 54417809 single base substitution T G intron_variant PACA-CA 18 54421004 54421004 single base substitution G A intron_variant PACA-CA 18 54421004 54421004 single base substitution G A upstream_gene_variant PACA-CA 18 54423487 54423487 single base substitution A G intron_variant PACA-CA 18 54423487 54423487 single base substitution A G upstream_gene_variant PACA-CA 18 54425775 54425775 single base substitution A G downstream_gene_variant PACA-CA 18 54425775 54425775 single base substitution A G intron_variant PACA-CA 18 54426759 54426759 insertion of <=200bp - TTAATATAC downstream_gene_variant PACA-CA 18 54426759 54426759 insertion of <=200bp - TTAATATAC intron_variant PACA-CA 18 54426786 54426790 deletion of <=200bp TATCT - downstream_gene_variant PACA-CA 18 54426786 54426790 deletion of <=200bp TATCT - intron_variant PACA-CA 18 54426796 54426808 deletion of <=200bp ATTCCTATTAAGA - downstream_gene_variant PACA-CA 18 54426796 54426808 deletion of <=200bp ATTCCTATTAAGA - intron_variant PACA-CA 18 54427800 54427800 deletion of <=200bp T - downstream_gene_variant PACA-CA 18 54427800 54427800 deletion of <=200bp T - intron_variant PACA-CA 18 54428471 54428471 single base substitution G A downstream_gene_variant PACA-CA 18 54428471 54428471 single base substitution G A intron_variant PACA-CA 18 54432316 54432316 single base substitution C G intron_variant PACA-CA 18 54432663 54432663 single base substitution A T intron_variant PACA-CA 18 54437213 54437213 deletion of <=200bp T - intron_variant PACA-CA 18 54437715 54437715 single base substitution G A intron_variant PACA-CA 18 54443184 54443184 single base substitution G A intron_variant PACA-CA 18 54444586 54444586 single base substitution G C intron_variant PACA-CA 18 54445922 54445922 insertion of <=200bp - T intron_variant PACA-CA 18 54446464 54446464 single base substitution C T intron_variant PACA-CA 18 54448242 54448242 single base substitution A T intron_variant PACA-CA 18 54448837 54448837 single base substitution T C exon_variant PACA-CA 18 54448837 54448837 single base substitution T C intron_variant PACA-CA 18 54448837 54448837 single base substitution T C missense_variant I1014T 3041T>C PACA-CA 18 54448837 54448837 single base substitution T C missense_variant I1047T 3140T>C PACA-CA 18 54452229 54452229 single base substitution T A downstream_gene_variant PACA-CA 18 54452229 54452229 single base substitution T A intron_variant PACA-CA 18 54453273 54453273 single base substitution G A downstream_gene_variant PACA-CA 18 54453273 54453273 single base substitution G A intron_variant PACA-CA 18 54454189 54454189 single base substitution C T downstream_gene_variant PACA-CA 18 54454189 54454189 single base substitution C T intron_variant PACA-CA 18 54459234 54459234 single base substitution C T intron_variant PACA-CA 18 54465996 54465996 single base substitution G A intron_variant PACA-CA 18 54468539 54468539 single base substitution C G intron_variant PACA-CA 18 54471073 54471073 single base substitution C T intron_variant PACA-CA 18 54471917 54471917 single base substitution C A intron_variant PACA-CA 18 54477540 54477540 single base substitution C T intron_variant PACA-CA 18 54478305 54478305 single base substitution G A intron_variant PACA-CA 18 54478311 54478315 deletion of <=200bp ATTGT - intron_variant PACA-CA 18 54478319 54478319 deletion of <=200bp T - intron_variant PACA-CA 18 54478321 54478323 deletion of <=200bp TTT - intron_variant PACA-CA 18 54478829 54478829 single base substitution T A intron_variant PACA-CA 18 54479488 54479488 single base substitution T A intron_variant PACA-CA 18 54486946 54486946 single base substitution C T intron_variant PACA-CA 18 54487106 54487106 single base substitution C A intron_variant PACA-CA 18 54500672 54500672 single base substitution G A intron_variant PACA-CA 18 54508863 54508863 single base substitution A G intron_variant PACA-CA 18 54524770 54524770 single base substitution G T intron_variant PACA-CA 18 54527525 54527539 deletion of <=200bp TCATGAGTGCATGCT - intron_variant PACA-CA 18 54532128 54532132 deletion of <=200bp AAAGA - intron_variant PACA-CA 18 54534245 54534245 single base substitution T C intron_variant PACA-CA 18 54540817 54540817 single base substitution G A intron_variant PACA-CA 18 54544166 54544166 single base substitution C T intron_variant PACA-CA 18 54544913 54544913 single base substitution C T intron_variant PACA-CA 18 54549535 54549535 single base substitution G A intron_variant PACA-CA 18 54557942 54557942 single base substitution T C intron_variant PACA-CA 18 54557942 54557942 single base substitution T C upstream_gene_variant PACA-CA 18 54567906 54567906 single base substitution T G intron_variant PACA-CA 18 54572166 54572166 deletion of <=200bp A - intron_variant PACA-CA 18 54572454 54572454 single base substitution A G intron_variant PACA-CA 18 54574326 54574326 insertion of <=200bp - T intron_variant PACA-CA 18 54582149 54582149 insertion of <=200bp - A intron_variant PACA-CA 18 54586916 54586916 single base substitution C T intron_variant PACA-CA 18 54591165 54591165 single base substitution C T intron_variant PACA-CA 18 54591165 54591165 single base substitution C T missense_variant T1147M 3440C>T PACA-CA 18 54591165 54591165 single base substitution C T missense_variant T1180M 3539C>T PACA-CA 18 54591165 54591165 single base substitution C T missense_variant T43M 128C>T PACA-CA 18 54591245 54591245 single base substitution C T intron_variant PACA-CA 18 54591245 54591245 single base substitution C T missense_variant R1174C 3520C>T PACA-CA 18 54591245 54591245 single base substitution C T missense_variant R1207C 3619C>T PACA-CA 18 54591245 54591245 single base substitution C T missense_variant R70C 208C>T PACA-CA 18 54591392 54591392 deletion of <=200bp T - intron_variant PACA-CA 18 54594001 54594001 single base substitution C G intron_variant PACA-CA 18 54606904 54606904 single base substitution A G downstream_gene_variant PACA-CA 18 54606904 54606904 single base substitution A G intron_variant PACA-CA 18 54612049 54612049 single base substitution G C intron_variant PACA-CA 18 54623759 54623759 single base substitution G C intron_variant PACA-CA 18 54624126 54624126 deletion of <=200bp T - intron_variant PACA-CA 18 54640124 54640124 insertion of <=200bp - AAAA intron_variant PACA-CA 18 54640724 54640724 insertion of <=200bp - G intron_variant PACA-CA 18 54648880 54648880 single base substitution A G intron_variant PACA-CA 18 54652055 54652055 single base substitution C T intron_variant PACA-CA 18 54661347 54661347 single base substitution C G intron_variant PACA-CA 18 54662607 54662607 single base substitution G C intron_variant PACA-CA 18 54674268 54674268 single base substitution T C intron_variant PACA-CA 18 54677846 54677846 single base substitution T C downstream_gene_variant PACA-CA 18 54677846 54677846 single base substitution T C intron_variant PACA-CA 18 54685601 54685601 single base substitution T C intron_variant PACA-CA 18 54687258 54687258 single base substitution A T intron_variant PACA-CA 18 54699334 54699334 single base substitution A G downstream_gene_variant PAEN-AU 18 54316948 54316948 single base substitution C T upstream_gene_variant PAEN-AU 18 54371881 54371881 single base substitution A G intron_variant PAEN-AU 18 54375903 54375903 single base substitution C T intron_variant PAEN-AU 18 54381285 54381285 single base substitution A G intron_variant PAEN-AU 18 54382436 54382436 single base substitution A C intron_variant PAEN-AU 18 54390119 54390119 single base substitution C G intron_variant PAEN-AU 18 54427837 54427837 single base substitution T G downstream_gene_variant PAEN-AU 18 54427837 54427837 single base substitution T G intron_variant PAEN-AU 18 54438808 54438808 single base substitution A C intron_variant PAEN-AU 18 54448159 54448159 single base substitution G C intron_variant PAEN-AU 18 54470312 54470312 single base substitution A G intron_variant PAEN-AU 18 54487658 54487658 single base substitution G A intron_variant PAEN-AU 18 54493895 54493895 single base substitution G C intron_variant PAEN-AU 18 54496219 54496219 single base substitution A G intron_variant PAEN-AU 18 54543864 54543864 single base substitution T C intron_variant PAEN-AU 18 54544641 54544641 single base substitution G T intron_variant PAEN-AU 18 54637669 54637669 single base substitution T G intron_variant PAEN-AU 18 54665128 54665128 single base substitution C T intron_variant PAEN-AU 18 54669963 54669963 single base substitution C T intron_variant PAEN-AU 18 54675929 54675929 single base substitution C A intron_variant PAEN-AU 18 54699551 54699551 single base substitution G A downstream_gene_variant PAEN-IT 18 54422580 54422580 single base substitution G A intron_variant PAEN-IT 18 54422580 54422580 single base substitution G A upstream_gene_variant PAEN-IT 18 54467642 54467642 single base substitution A G intron_variant PAEN-IT 18 54488849 54488849 single base substitution A G intron_variant PAEN-IT 18 54500285 54500285 single base substitution G A intron_variant PAEN-IT 18 54527941 54527941 single base substitution C T intron_variant PAEN-IT 18 54527969 54527969 single base substitution T C intron_variant PAEN-IT 18 54544651 54544651 single base substitution C T intron_variant PAEN-IT 18 54585371 54585371 single base substitution G C intron_variant PAEN-IT 18 54597235 54597235 single base substitution G A intron_variant PAEN-IT 18 54625419 54625419 single base substitution C T intron_variant PAEN-IT 18 54625419 54625419 single base substitution C T upstream_gene_variant PBCA-DE 18 54320317 54320317 single base substitution G A intron_variant PBCA-DE 18 54329110 54329111 deletion of <=200bp CA - intron_variant PBCA-DE 18 54332073 54332073 single base substitution A C intron_variant PBCA-DE 18 54336209 54336209 single base substitution G T intron_variant PBCA-DE 18 54337414 54337414 single base substitution G T intron_variant PBCA-DE 18 54345895 54345895 deletion of <=200bp T - intron_variant PBCA-DE 18 54353150 54353150 single base substitution G A downstream_gene_variant PBCA-DE 18 54353150 54353150 single base substitution G A intron_variant PBCA-DE 18 54353664 54353664 deletion of <=200bp T - downstream_gene_variant PBCA-DE 18 54353664 54353664 deletion of <=200bp T - intron_variant PBCA-DE 18 54357652 54357652 single base substitution C T intron_variant PBCA-DE 18 54357652 54357652 single base substitution C T upstream_gene_variant PBCA-DE 18 54361790 54361790 single base substitution A G intron_variant PBCA-DE 18 54361790 54361790 single base substitution A G upstream_gene_variant PBCA-DE 18 54367391 54367391 single base substitution A G downstream_gene_variant PBCA-DE 18 54367391 54367391 single base substitution A G intron_variant PBCA-DE 18 54367428 54367428 single base substitution G A downstream_gene_variant PBCA-DE 18 54367428 54367428 single base substitution G A intron_variant PBCA-DE 18 54375891 54375891 single base substitution C T intron_variant PBCA-DE 18 54385141 54385141 single base substitution C A intron_variant PBCA-DE 18 54385141 54385141 single base substitution C A upstream_gene_variant PBCA-DE 18 54398610 54398610 single base substitution G A intron_variant PBCA-DE 18 54398610 54398610 single base substitution G A splice_region_variant PBCA-DE 18 54406962 54406962 single base substitution C A intron_variant PBCA-DE 18 54406990 54406990 single base substitution G T intron_variant PBCA-DE 18 54412692 54412692 single base substitution G A intron_variant PBCA-DE 18 54421479 54421480 deletion of <=200bp TG - intron_variant PBCA-DE 18 54421479 54421480 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 18 54421603 54421603 single base substitution C T intron_variant PBCA-DE 18 54421603 54421603 single base substitution C T upstream_gene_variant PBCA-DE 18 54425619 54425619 single base substitution G A downstream_gene_variant PBCA-DE 18 54425619 54425619 single base substitution G A intron_variant PBCA-DE 18 54429514 54429514 single base substitution A G downstream_gene_variant PBCA-DE 18 54429514 54429514 single base substitution A G intron_variant PBCA-DE 18 54458990 54458990 single base substitution A T intron_variant PBCA-DE 18 54459997 54459998 deletion of <=200bp AC - intron_variant PBCA-DE 18 54474622 54474622 single base substitution A G intron_variant PBCA-DE 18 54477041 54477042 deletion of <=200bp TA - intron_variant PBCA-DE 18 54478662 54478662 single base substitution C A intron_variant PBCA-DE 18 54479294 54479294 single base substitution G A intron_variant PBCA-DE 18 54480975 54480975 insertion of <=200bp - T intron_variant PBCA-DE 18 54487346 54487346 single base substitution A T intron_variant PBCA-DE 18 54493306 54493306 single base substitution G A intron_variant PBCA-DE 18 54511239 54511239 insertion of <=200bp - ATTACAGGA intron_variant PBCA-DE 18 54512744 54512744 single base substitution G A intron_variant PBCA-DE 18 54530930 54530930 single base substitution T A intron_variant PBCA-DE 18 54536802 54536802 single base substitution A G intron_variant PBCA-DE 18 54537127 54537127 insertion of <=200bp - TTA intron_variant PBCA-DE 18 54546467 54546467 insertion of <=200bp - TTGTTTTA intron_variant PBCA-DE 18 54553258 54553258 single base substitution A G intron_variant PBCA-DE 18 54553258 54553258 single base substitution A G upstream_gene_variant PBCA-DE 18 54583173 54583173 single base substitution G A intron_variant PBCA-DE 18 54590443 54590443 single base substitution T C intron_variant PBCA-DE 18 54591531 54591531 single base substitution G T intron_variant PBCA-DE 18 54592638 54592638 insertion of <=200bp - T intron_variant PBCA-DE 18 54594217 54594217 single base substitution G C intron_variant PBCA-DE 18 54595928 54595928 single base substitution C A intron_variant PBCA-DE 18 54605402 54605402 single base substitution A G intron_variant PBCA-DE 18 54608521 54608523 deletion of <=200bp ATA - downstream_gene_variant PBCA-DE 18 54608521 54608523 deletion of <=200bp ATA - intron_variant PBCA-DE 18 54616360 54616361 deletion of <=200bp TC - intron_variant PBCA-DE 18 54616918 54616918 single base substitution T G intron_variant PBCA-DE 18 54622886 54622888 deletion of <=200bp GAT - intron_variant PBCA-DE 18 54651323 54651323 single base substitution A T intron_variant PBCA-DE 18 54652105 54652105 single base substitution T A intron_variant PBCA-DE 18 54653480 54653480 single base substitution G C intron_variant PBCA-DE 18 54653963 54653963 insertion of <=200bp - A intron_variant PBCA-DE 18 54657424 54657424 single base substitution T C intron_variant PBCA-DE 18 54670559 54670559 insertion of <=200bp - A intron_variant PBCA-DE 18 54681880 54681881 deletion of <=200bp CT - downstream_gene_variant PBCA-DE 18 54681880 54681881 deletion of <=200bp CT - intron_variant PBCA-DE 18 54684104 54684104 single base substitution C A intron_variant PBCA-DE 18 54685827 54685827 single base substitution T C intron_variant PBCA-DE 18 54691877 54691877 single base substitution T C downstream_gene_variant PBCA-DE 18 54691877 54691877 single base substitution T C intron_variant PBCA-DE 18 54691880 54691880 single base substitution A G downstream_gene_variant PBCA-DE 18 54691880 54691880 single base substitution A G intron_variant PBCA-DE 18 54695271 54695271 insertion of <=200bp - TGTACA 3_prime_UTR_variant PBCA-DE 18 54695271 54695271 insertion of <=200bp - TGTACA downstream_gene_variant PBCA-DE 18 54697390 54697390 single base substitution C T 3_prime_UTR_variant PBCA-DE 18 54697390 54697390 single base substitution C T downstream_gene_variant PBCA-DE 18 54702305 54702305 single base substitution G A downstream_gene_variant PBCA-DE 18 54702595 54702595 single base substitution G A downstream_gene_variant PRAD-CA 18 54315025 54315025 single base substitution C A upstream_gene_variant PRAD-CA 18 54315358 54315358 single base substitution G C upstream_gene_variant PRAD-CA 18 54368936 54368936 single base substitution T C intron_variant PRAD-CA 18 54384731 54384731 single base substitution G C intron_variant PRAD-CA 18 54384731 54384731 single base substitution G C upstream_gene_variant PRAD-CA 18 54393524 54393524 single base substitution G T intron_variant PRAD-CA 18 54421518 54421518 single base substitution A G intron_variant PRAD-CA 18 54421518 54421518 single base substitution A G upstream_gene_variant PRAD-CA 18 54448252 54448252 single base substitution T A intron_variant PRAD-CA 18 54485052 54485052 single base substitution C G intron_variant PRAD-CA 18 54506071 54506071 single base substitution T C intron_variant PRAD-CA 18 54507020 54507020 single base substitution G A intron_variant PRAD-CA 18 54512720 54512720 single base substitution G T intron_variant PRAD-CA 18 54512734 54512734 single base substitution G C intron_variant PRAD-CA 18 54549946 54549946 single base substitution T C intron_variant PRAD-CA 18 54567297 54567297 single base substitution G A intron_variant PRAD-CA 18 54581704 54581704 single base substitution G T intron_variant PRAD-CA 18 54621524 54621524 single base substitution C G intron_variant PRAD-CA 18 54623080 54623080 single base substitution G A intron_variant PRAD-CA 18 54651069 54651069 single base substitution C T intron_variant PRAD-CA 18 54657945 54657945 single base substitution G A intron_variant PRAD-CA 18 54665944 54665944 single base substitution A T intron_variant PRAD-CA 18 54681025 54681025 single base substitution G A downstream_gene_variant PRAD-CA 18 54681025 54681025 single base substitution G A intron_variant PRAD-CA 18 54691904 54691904 single base substitution A G downstream_gene_variant PRAD-CA 18 54691904 54691904 single base substitution A G intron_variant PRAD-CA 18 54691930 54691930 single base substitution A G downstream_gene_variant PRAD-CA 18 54691930 54691930 single base substitution A G intron_variant PRAD-CA 18 54691993 54691993 single base substitution G A downstream_gene_variant PRAD-CA 18 54691993 54691993 single base substitution G A intron_variant PRAD-UK 18 54316311 54316311 single base substitution C A upstream_gene_variant PRAD-UK 18 54318675 54318675 single base substitution C T 5_prime_UTR_variant PRAD-UK 18 54318675 54318675 single base substitution C T upstream_gene_variant PRAD-UK 18 54359030 54359030 single base substitution G A intron_variant PRAD-UK 18 54359030 54359030 single base substitution G A synonymous_variant L316L 948G>A PRAD-UK 18 54359030 54359030 single base substitution G A upstream_gene_variant PRAD-UK 18 54369574 54369574 single base substitution T G intron_variant PRAD-UK 18 54391798 54391798 single base substitution T C intron_variant PRAD-UK 18 54417893 54417893 single base substitution G C intron_variant PRAD-UK 18 54429284 54429284 single base substitution G A downstream_gene_variant PRAD-UK 18 54429284 54429284 single base substitution G A intron_variant PRAD-UK 18 54430975 54430975 single base substitution C T intron_variant PRAD-UK 18 54440445 54440445 single base substitution T G intron_variant PRAD-UK 18 54451366 54451366 single base substitution T C downstream_gene_variant PRAD-UK 18 54451366 54451366 single base substitution T C intron_variant PRAD-UK 18 54453300 54453300 single base substitution A G downstream_gene_variant PRAD-UK 18 54453300 54453300 single base substitution A G intron_variant PRAD-UK 18 54457125 54457125 single base substitution A G intron_variant PRAD-UK 18 54459742 54459742 single base substitution T C intron_variant PRAD-UK 18 54467334 54467334 single base substitution G C intron_variant PRAD-UK 18 54467335 54467335 single base substitution G T intron_variant PRAD-UK 18 54479014 54479014 single base substitution G C intron_variant PRAD-UK 18 54493160 54493160 single base substitution T G intron_variant PRAD-UK 18 54524677 54524677 single base substitution A T intron_variant PRAD-UK 18 54535397 54535397 single base substitution C A intron_variant PRAD-UK 18 54594325 54594325 insertion of <=200bp - A intron_variant PRAD-UK 18 54594334 54594334 insertion of <=200bp - A intron_variant PRAD-UK 18 54598121 54598121 single base substitution A G intron_variant PRAD-UK 18 54598121 54598121 single base substitution A G upstream_gene_variant PRAD-UK 18 54605123 54605123 single base substitution G T intron_variant PRAD-UK 18 54609251 54609251 single base substitution G A downstream_gene_variant PRAD-UK 18 54609251 54609251 single base substitution G A intron_variant PRAD-UK 18 54614801 54614801 single base substitution G A intron_variant PRAD-UK 18 54631724 54631724 single base substitution T C intron_variant PRAD-UK 18 54636846 54636846 single base substitution G A intron_variant PRAD-UK 18 54654308 54654308 single base substitution C T intron_variant PRAD-UK 18 54677839 54677839 single base substitution C T downstream_gene_variant PRAD-UK 18 54677839 54677839 single base substitution C T intron_variant PRAD-UK 18 54697908 54697908 insertion of <=200bp - T 3_prime_UTR_variant PRAD-UK 18 54697908 54697908 insertion of <=200bp - T downstream_gene_variant PRAD-US 18 54547245 54547245 single base substitution C A intron_variant PRAD-US 18 54547245 54547245 single base substitution C A synonymous_variant T1092T 3276C>A PRAD-US 18 54547245 54547245 single base substitution C A synonymous_variant T1125T 3375C>A PRAD-US 18 54591238 54591238 single base substitution G A intron_variant PRAD-US 18 54591238 54591238 single base substitution G A synonymous_variant L1171L 3513G>A PRAD-US 18 54591238 54591238 single base substitution G A synonymous_variant L1204L 3612G>A PRAD-US 18 54591238 54591238 single base substitution G A synonymous_variant L67L 201G>A PRAD-US 18 54603078 54603078 single base substitution C T exon_variant PRAD-US 18 54603078 54603078 single base substitution C T intron_variant PRAD-US 18 54603078 54603078 single base substitution C T missense_variant A121V 362C>T PRAD-US 18 54603078 54603078 single base substitution C T missense_variant A1225V 3674C>T PRAD-US 18 54603078 54603078 single base substitution C T missense_variant A1258V 3773C>T READ-US 18 54359035 54359035 single base substitution G A intron_variant READ-US 18 54359035 54359035 single base substitution G A missense_variant R318Q 953G>A READ-US 18 54359035 54359035 single base substitution G A upstream_gene_variant READ-US 18 54362230 54362230 single base substitution G T exon_variant READ-US 18 54362230 54362230 single base substitution G T intron_variant READ-US 18 54362230 54362230 single base substitution G T synonymous_variant L386L 1158G>T READ-US 18 54423815 54423815 single base substitution G T intron_variant READ-US 18 54423815 54423815 single base substitution G T missense_variant G664V 1991G>T READ-US 18 54423815 54423815 single base substitution G T missense_variant G66V 197G>T READ-US 18 54423815 54423815 single base substitution G T missense_variant G85V 254G>T READ-US 18 54423815 54423815 single base substitution G T upstream_gene_variant RECA-EU 18 54316966 54316966 single base substitution C T upstream_gene_variant RECA-EU 18 54325901 54325901 single base substitution A G intron_variant RECA-EU 18 54338450 54338450 single base substitution A T intron_variant RECA-EU 18 54339778 54339778 single base substitution T A intron_variant RECA-EU 18 54339778 54339778 single base substitution T A missense_variant V11D 32T>A RECA-EU 18 54343832 54343832 single base substitution C T intron_variant RECA-EU 18 54344087 54344087 single base substitution C A intron_variant RECA-EU 18 54349373 54349373 single base substitution A G intron_variant RECA-EU 18 54351933 54351933 single base substitution A T downstream_gene_variant RECA-EU 18 54351933 54351933 single base substitution A T intron_variant RECA-EU 18 54367180 54367180 single base substitution A C downstream_gene_variant RECA-EU 18 54367180 54367180 single base substitution A C intron_variant RECA-EU 18 54367488 54367488 single base substitution T C downstream_gene_variant RECA-EU 18 54367488 54367488 single base substitution T C intron_variant RECA-EU 18 54376648 54376648 single base substitution T C intron_variant RECA-EU 18 54393952 54393952 single base substitution A T intron_variant RECA-EU 18 54394033 54394033 single base substitution T C intron_variant RECA-EU 18 54394905 54394905 single base substitution T G intron_variant RECA-EU 18 54402097 54402097 single base substitution G T intron_variant RECA-EU 18 54402098 54402098 single base substitution C A intron_variant RECA-EU 18 54414935 54414935 single base substitution A C intron_variant RECA-EU 18 54424588 54424588 single base substitution G A downstream_gene_variant RECA-EU 18 54424588 54424588 single base substitution G A intron_variant RECA-EU 18 54424588 54424588 single base substitution G A splice_region_variant RECA-EU 18 54428492 54428492 single base substitution T A downstream_gene_variant RECA-EU 18 54428492 54428492 single base substitution T A intron_variant RECA-EU 18 54430384 54430384 single base substitution G A intron_variant RECA-EU 18 54431726 54431726 single base substitution C G intron_variant RECA-EU 18 54440703 54440703 single base substitution A T intron_variant RECA-EU 18 54459833 54459833 single base substitution T G intron_variant RECA-EU 18 54471287 54471287 single base substitution A T intron_variant RECA-EU 18 54482772 54482772 single base substitution G T intron_variant RECA-EU 18 54498836 54498836 single base substitution G A intron_variant RECA-EU 18 54508291 54508291 single base substitution G T intron_variant RECA-EU 18 54523232 54523232 single base substitution G C intron_variant RECA-EU 18 54528665 54528665 single base substitution G C intron_variant RECA-EU 18 54537669 54537669 single base substitution A T intron_variant RECA-EU 18 54543010 54543010 single base substitution A G intron_variant RECA-EU 18 54545613 54545613 single base substitution T C intron_variant RECA-EU 18 54567536 54567536 single base substitution A G intron_variant RECA-EU 18 54574251 54574251 single base substitution A T intron_variant RECA-EU 18 54574969 54574969 single base substitution C A intron_variant RECA-EU 18 54576587 54576587 single base substitution T A intron_variant RECA-EU 18 54584112 54584112 single base substitution G C intron_variant RECA-EU 18 54592120 54592120 single base substitution C G intron_variant RECA-EU 18 54593880 54593880 single base substitution T A intron_variant RECA-EU 18 54598238 54598238 single base substitution A T intron_variant RECA-EU 18 54598238 54598238 single base substitution A T upstream_gene_variant RECA-EU 18 54598240 54598240 single base substitution G T intron_variant RECA-EU 18 54598240 54598240 single base substitution G T upstream_gene_variant RECA-EU 18 54622375 54622375 single base substitution A T intron_variant RECA-EU 18 54626082 54626082 single base substitution C A intron_variant RECA-EU 18 54626082 54626082 single base substitution C A upstream_gene_variant RECA-EU 18 54627009 54627009 single base substitution G C intron_variant RECA-EU 18 54627009 54627009 single base substitution G C upstream_gene_variant RECA-EU 18 54633154 54633154 single base substitution G T intron_variant RECA-EU 18 54652130 54652130 single base substitution G A intron_variant RECA-EU 18 54669194 54669194 single base substitution T C intron_variant RECA-EU 18 54685275 54685275 single base substitution A G intron_variant RECA-EU 18 54693134 54693134 single base substitution T C intron_variant RECA-EU 18 54703051 54703051 single base substitution T A downstream_gene_variant SKCA-BR 18 54316532 54316532 single base substitution T C upstream_gene_variant SKCA-BR 18 54322389 54322389 single base substitution C T intron_variant SKCA-BR 18 54323814 54323814 insertion of <=200bp - AT intron_variant SKCA-BR 18 54323814 54323814 insertion of <=200bp - ATTT intron_variant SKCA-BR 18 54324912 54324912 single base substitution A G intron_variant SKCA-BR 18 54325164 54325164 insertion of <=200bp - GT intron_variant SKCA-BR 18 54327542 54327542 single base substitution C T intron_variant SKCA-BR 18 54329888 54329888 single base substitution C T intron_variant SKCA-BR 18 54330857 54330857 insertion of <=200bp - CATATATATACAGCATATATACATAT intron_variant SKCA-BR 18 54330886 54330890 deletion of <=200bp TATGC - intron_variant SKCA-BR 18 54332061 54332061 single base substitution T G intron_variant SKCA-BR 18 54333659 54333659 single base substitution C G intron_variant SKCA-BR 18 54336381 54336381 single base substitution T G intron_variant SKCA-BR 18 54341161 54341161 single base substitution T G intron_variant SKCA-BR 18 54341918 54341918 single base substitution T C intron_variant SKCA-BR 18 54345704 54345704 single base substitution C T intron_variant SKCA-BR 18 54352389 54352389 single base substitution A T downstream_gene_variant SKCA-BR 18 54352389 54352389 single base substitution A T intron_variant SKCA-BR 18 54355296 54355296 single base substitution C T intron_variant SKCA-BR 18 54357876 54357876 single base substitution T C intron_variant SKCA-BR 18 54357876 54357876 single base substitution T C upstream_gene_variant SKCA-BR 18 54358048 54358050 deletion of <=200bp GAA - intron_variant SKCA-BR 18 54358048 54358050 deletion of <=200bp GAA - upstream_gene_variant SKCA-BR 18 54359062 54359062 single base substitution G A intron_variant SKCA-BR 18 54359062 54359062 single base substitution G A upstream_gene_variant SKCA-BR 18 54360803 54360804 deletion of <=200bp TG - intron_variant SKCA-BR 18 54360803 54360804 deletion of <=200bp TG - upstream_gene_variant SKCA-BR 18 54360804 54360804 single base substitution G T intron_variant SKCA-BR 18 54360804 54360804 single base substitution G T upstream_gene_variant SKCA-BR 18 54362371 54362371 single base substitution A C exon_variant SKCA-BR 18 54362371 54362371 single base substitution A C intron_variant SKCA-BR 18 54362371 54362371 single base substitution A C synonymous_variant V433V 1299A>C SKCA-BR 18 54362866 54362866 single base substitution T G intron_variant SKCA-BR 18 54367486 54367486 insertion of <=200bp - TTC downstream_gene_variant SKCA-BR 18 54367486 54367486 insertion of <=200bp - TTC intron_variant SKCA-BR 18 54370803 54370803 single base substitution C T intron_variant SKCA-BR 18 54374744 54374744 single base substitution C T intron_variant SKCA-BR 18 54376122 54376122 single base substitution C T intron_variant SKCA-BR 18 54377234 54377234 insertion of <=200bp - GT intron_variant SKCA-BR 18 54377234 54377234 insertion of <=200bp - GTT intron_variant SKCA-BR 18 54377850 54377850 single base substitution T C intron_variant SKCA-BR 18 54378207 54378207 single base substitution C T intron_variant SKCA-BR 18 54378283 54378283 single base substitution C T intron_variant SKCA-BR 18 54385576 54385576 single base substitution G A intron_variant SKCA-BR 18 54385576 54385576 single base substitution G A upstream_gene_variant SKCA-BR 18 54385833 54385833 single base substitution C T intron_variant SKCA-BR 18 54385833 54385833 single base substitution C T upstream_gene_variant SKCA-BR 18 54385921 54385921 insertion of <=200bp - TAC intron_variant SKCA-BR 18 54385921 54385921 insertion of <=200bp - TAC upstream_gene_variant SKCA-BR 18 54386792 54386793 deletion of <=200bp CA - intron_variant SKCA-BR 18 54386792 54386793 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 18 54386801 54386801 insertion of <=200bp - AACAAAAAAACA intron_variant SKCA-BR 18 54386801 54386801 insertion of <=200bp - AACAAAAAAACA upstream_gene_variant SKCA-BR 18 54387950 54387950 single base substitution T G intron_variant SKCA-BR 18 54387950 54387950 single base substitution T G upstream_gene_variant SKCA-BR 18 54389899 54389899 single base substitution C T intron_variant SKCA-BR 18 54390149 54390149 single base substitution C T intron_variant SKCA-BR 18 54390272 54390272 single base substitution C T intron_variant SKCA-BR 18 54390386 54390386 single base substitution C T intron_variant SKCA-BR 18 54392023 54392023 single base substitution C T intron_variant SKCA-BR 18 54392056 54392056 single base substitution C T intron_variant SKCA-BR 18 54392195 54392195 single base substitution C T intron_variant SKCA-BR 18 54392846 54392846 single base substitution C T intron_variant SKCA-BR 18 54393369 54393369 single base substitution C T intron_variant SKCA-BR 18 54394474 54394474 single base substitution G A intron_variant SKCA-BR 18 54403049 54403049 single base substitution T G intron_variant SKCA-BR 18 54407840 54407840 single base substitution T G intron_variant SKCA-BR 18 54411154 54411154 single base substitution G A intron_variant SKCA-BR 18 54411911 54411911 single base substitution C T intron_variant SKCA-BR 18 54418953 54418953 single base substitution A T intron_variant SKCA-BR 18 54423297 54423297 single base substitution G T intron_variant SKCA-BR 18 54423297 54423297 single base substitution G T upstream_gene_variant SKCA-BR 18 54427752 54427752 single base substitution C T downstream_gene_variant SKCA-BR 18 54427752 54427752 single base substitution C T intron_variant SKCA-BR 18 54428741 54428741 single base substitution G C downstream_gene_variant SKCA-BR 18 54428741 54428741 single base substitution G C intron_variant SKCA-BR 18 54437086 54437086 single base substitution C T intron_variant SKCA-BR 18 54440177 54440177 single base substitution C T intron_variant SKCA-BR 18 54440702 54440702 single base substitution C T intron_variant SKCA-BR 18 54441600 54441600 single base substitution T G intron_variant SKCA-BR 18 54442888 54442888 single base substitution G A intron_variant SKCA-BR 18 54444813 54444813 single base substitution C T intron_variant SKCA-BR 18 54445987 54445987 single base substitution C T intron_variant SKCA-BR 18 54447198 54447198 single base substitution C T intron_variant SKCA-BR 18 54447565 54447565 single base substitution C T intron_variant SKCA-BR 18 54451692 54451692 single base substitution C T downstream_gene_variant SKCA-BR 18 54451692 54451692 single base substitution C T intron_variant SKCA-BR 18 54455248 54455248 single base substitution C T intron_variant SKCA-BR 18 54455296 54455296 single base substitution T A intron_variant SKCA-BR 18 54457811 54457811 single base substitution C T intron_variant SKCA-BR 18 54459339 54459339 single base substitution C T intron_variant SKCA-BR 18 54459433 54459433 single base substitution C T intron_variant SKCA-BR 18 54459996 54459998 deletion of <=200bp AAC - intron_variant SKCA-BR 18 54462601 54462601 single base substitution G A intron_variant SKCA-BR 18 54466415 54466415 single base substitution G T intron_variant SKCA-BR 18 54466954 54466954 single base substitution A T intron_variant SKCA-BR 18 54468341 54468341 single base substitution C G intron_variant SKCA-BR 18 54468440 54468440 single base substitution G A intron_variant SKCA-BR 18 54470241 54470241 single base substitution C T intron_variant SKCA-BR 18 54470877 54470877 single base substitution G A intron_variant SKCA-BR 18 54472057 54472057 single base substitution C T intron_variant SKCA-BR 18 54472577 54472577 single base substitution A C intron_variant SKCA-BR 18 54472910 54472910 single base substitution A G intron_variant SKCA-BR 18 54476479 54476479 single base substitution C T intron_variant SKCA-BR 18 54481465 54481465 single base substitution C T intron_variant SKCA-BR 18 54482295 54482295 single base substitution T A intron_variant SKCA-BR 18 54485009 54485009 single base substitution C T intron_variant SKCA-BR 18 54487792 54487792 single base substitution G A intron_variant SKCA-BR 18 54489795 54489795 single base substitution C T intron_variant SKCA-BR 18 54496487 54496488 deletion of <=200bp TA - intron_variant SKCA-BR 18 54496560 54496560 single base substitution C T intron_variant SKCA-BR 18 54497199 54497199 single base substitution C T intron_variant SKCA-BR 18 54497200 54497200 single base substitution T C intron_variant SKCA-BR 18 54500097 54500097 single base substitution C T intron_variant SKCA-BR 18 54503973 54503973 single base substitution A T intron_variant SKCA-BR 18 54508079 54508079 single base substitution C T intron_variant SKCA-BR 18 54511084 54511084 single base substitution C T intron_variant SKCA-BR 18 54511482 54511482 single base substitution C T intron_variant SKCA-BR 18 54511483 54511483 single base substitution T C intron_variant SKCA-BR 18 54520545 54520545 single base substitution C T intron_variant SKCA-BR 18 54523562 54523562 single base substitution C T intron_variant SKCA-BR 18 54526257 54526257 single base substitution A C intron_variant SKCA-BR 18 54530820 54530820 single base substitution A C intron_variant SKCA-BR 18 54533331 54533331 single base substitution A T intron_variant SKCA-BR 18 54534270 54534270 single base substitution T C intron_variant SKCA-BR 18 54534586 54534586 single base substitution C T intron_variant SKCA-BR 18 54535133 54535133 single base substitution C T intron_variant SKCA-BR 18 54536135 54536135 single base substitution G A intron_variant SKCA-BR 18 54537863 54537863 single base substitution C T intron_variant SKCA-BR 18 54547318 54547318 single base substitution C T intron_variant SKCA-BR 18 54547318 54547318 single base substitution C T missense_variant P1117S 3349C>T SKCA-BR 18 54547318 54547318 single base substitution C T missense_variant P1150S 3448C>T SKCA-BR 18 54549566 54549566 single base substitution T C intron_variant SKCA-BR 18 54552159 54552159 single base substitution C T intron_variant SKCA-BR 18 54555975 54555975 single base substitution C T intron_variant SKCA-BR 18 54555975 54555975 single base substitution C T upstream_gene_variant SKCA-BR 18 54561436 54561436 single base substitution C T intron_variant SKCA-BR 18 54561862 54561862 single base substitution C T intron_variant SKCA-BR 18 54567313 54567313 insertion of <=200bp - GTATA intron_variant SKCA-BR 18 54576477 54576477 single base substitution A G intron_variant SKCA-BR 18 54577328 54577328 single base substitution A G intron_variant SKCA-BR 18 54580940 54580940 single base substitution C T intron_variant SKCA-BR 18 54583827 54583827 single base substitution C T intron_variant SKCA-BR 18 54584033 54584033 single base substitution A G intron_variant SKCA-BR 18 54584040 54584040 single base substitution C T intron_variant SKCA-BR 18 54587569 54587569 single base substitution G A intron_variant SKCA-BR 18 54587606 54587606 single base substitution C A intron_variant SKCA-BR 18 54589231 54589231 single base substitution T G intron_variant SKCA-BR 18 54590212 54590212 single base substitution C T intron_variant SKCA-BR 18 54590240 54590240 single base substitution C T intron_variant SKCA-BR 18 54591414 54591414 single base substitution C T intron_variant SKCA-BR 18 54591813 54591813 single base substitution A T intron_variant SKCA-BR 18 54592115 54592115 single base substitution C T intron_variant SKCA-BR 18 54592125 54592125 single base substitution G A intron_variant SKCA-BR 18 54595610 54595610 single base substitution C T intron_variant SKCA-BR 18 54602966 54602966 single base substitution C T intron_variant SKCA-BR 18 54602966 54602966 single base substitution C T upstream_gene_variant SKCA-BR 18 54608003 54608003 single base substitution A C downstream_gene_variant SKCA-BR 18 54608003 54608003 single base substitution A C intron_variant SKCA-BR 18 54609313 54609313 single base substitution C T downstream_gene_variant SKCA-BR 18 54609313 54609313 single base substitution C T intron_variant SKCA-BR 18 54609519 54609519 single base substitution G A downstream_gene_variant SKCA-BR 18 54609519 54609519 single base substitution G A intron_variant SKCA-BR 18 54610879 54610879 single base substitution A G downstream_gene_variant SKCA-BR 18 54610879 54610879 single base substitution A G intron_variant SKCA-BR 18 54611213 54611217 deletion of <=200bp GTTTT - intron_variant SKCA-BR 18 54616326 54616326 single base substitution G C intron_variant SKCA-BR 18 54616627 54616627 single base substitution A C intron_variant SKCA-BR 18 54618291 54618291 single base substitution G T intron_variant SKCA-BR 18 54622062 54622062 single base substitution T C intron_variant SKCA-BR 18 54622144 54622144 single base substitution C T intron_variant SKCA-BR 18 54622885 54622885 insertion of <=200bp - GGATGAT intron_variant SKCA-BR 18 54623368 54623368 single base substitution G A intron_variant SKCA-BR 18 54624016 54624017 deletion of <=200bp TA - intron_variant SKCA-BR 18 54632059 54632059 single base substitution C T intron_variant SKCA-BR 18 54634576 54634576 single base substitution C T intron_variant SKCA-BR 18 54636345 54636345 single base substitution T A intron_variant SKCA-BR 18 54636609 54636609 single base substitution A C intron_variant SKCA-BR 18 54637467 54637467 insertion of <=200bp - GT intron_variant SKCA-BR 18 54639761 54639761 single base substitution T G intron_variant SKCA-BR 18 54640069 54640069 insertion of <=200bp - GT intron_variant SKCA-BR 18 54642266 54642266 single base substitution C T intron_variant SKCA-BR 18 54643851 54643851 single base substitution C T intron_variant SKCA-BR 18 54644280 54644280 single base substitution C G intron_variant SKCA-BR 18 54649391 54649391 single base substitution C T intron_variant SKCA-BR 18 54651572 54651572 single base substitution T G intron_variant SKCA-BR 18 54653359 54653361 deletion of <=200bp TTG - intron_variant SKCA-BR 18 54653359 54653363 deletion of <=200bp TTGTG - intron_variant SKCA-BR 18 54653407 54653411 deletion of <=200bp GTGTA - intron_variant SKCA-BR 18 54657458 54657458 single base substitution T G intron_variant SKCA-BR 18 54657607 54657607 single base substitution C T intron_variant SKCA-BR 18 54658447 54658447 single base substitution G A intron_variant SKCA-BR 18 54658714 54658714 single base substitution T C intron_variant SKCA-BR 18 54660134 54660134 single base substitution G A intron_variant SKCA-BR 18 54660922 54660927 deletion of <=200bp TAGGGA - intron_variant SKCA-BR 18 54670255 54670255 single base substitution A T intron_variant SKCA-BR 18 54671036 54671036 single base substitution T C intron_variant SKCA-BR 18 54673261 54673261 single base substitution T C intron_variant SKCA-BR 18 54674212 54674212 insertion of <=200bp - CT intron_variant SKCA-BR 18 54674980 54674980 single base substitution C A intron_variant SKCA-BR 18 54680558 54680558 single base substitution C T downstream_gene_variant SKCA-BR 18 54680558 54680558 single base substitution C T intron_variant SKCA-BR 18 54681043 54681043 single base substitution C T downstream_gene_variant SKCA-BR 18 54681043 54681043 single base substitution C T intron_variant SKCA-BR 18 54682751 54682751 single base substitution C T intron_variant SKCA-BR 18 54687098 54687098 single base substitution C T intron_variant SKCA-BR 18 54688308 54688308 single base substitution T C downstream_gene_variant SKCA-BR 18 54688308 54688308 single base substitution T C intron_variant SKCA-BR 18 54689464 54689464 single base substitution T C downstream_gene_variant SKCA-BR 18 54689464 54689464 single base substitution T C intron_variant SKCA-BR 18 54689471 54689471 single base substitution C A downstream_gene_variant SKCA-BR 18 54689471 54689471 single base substitution C A intron_variant SKCA-BR 18 54690883 54690883 single base substitution A G downstream_gene_variant SKCA-BR 18 54690883 54690883 single base substitution A G intron_variant SKCA-BR 18 54691786 54691786 single base substitution G A downstream_gene_variant SKCA-BR 18 54691786 54691786 single base substitution G A intron_variant SKCA-BR 18 54691880 54691880 single base substitution A G downstream_gene_variant SKCA-BR 18 54691880 54691880 single base substitution A G intron_variant SKCA-BR 18 54691922 54691923 deletion of <=200bp GA - downstream_gene_variant SKCA-BR 18 54691922 54691923 deletion of <=200bp GA - intron_variant SKCA-BR 18 54692084 54692084 single base substitution C T downstream_gene_variant SKCA-BR 18 54692084 54692084 single base substitution C T intron_variant SKCA-BR 18 54692087 54692087 single base substitution G A downstream_gene_variant SKCA-BR 18 54692087 54692087 single base substitution G A intron_variant SKCA-BR 18 54692099 54692099 single base substitution C T downstream_gene_variant SKCA-BR 18 54692099 54692099 single base substitution C T intron_variant SKCA-BR 18 54692111 54692111 single base substitution G A downstream_gene_variant SKCA-BR 18 54692111 54692111 single base substitution G A intron_variant SKCA-BR 18 54692131 54692131 single base substitution A G downstream_gene_variant SKCA-BR 18 54692131 54692131 single base substitution A G intron_variant SKCA-BR 18 54695179 54695179 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 54695179 54695179 single base substitution C T downstream_gene_variant SKCA-BR 18 54695311 54695311 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 54695311 54695311 single base substitution C T downstream_gene_variant SKCA-BR 18 54695333 54695333 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 54695333 54695333 single base substitution C T downstream_gene_variant SKCA-BR 18 54696019 54696019 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 54696019 54696019 single base substitution C T downstream_gene_variant SKCA-BR 18 54696951 54696951 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 54696951 54696951 single base substitution C T downstream_gene_variant SKCA-BR 18 54697204 54697204 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 54697204 54697204 single base substitution C T downstream_gene_variant SKCA-BR 18 54700032 54700042 deletion of <=200bp TTATATATATA - downstream_gene_variant SKCA-BR 18 54701264 54701264 single base substitution C A downstream_gene_variant SKCA-BR 18 54701514 54701514 single base substitution C T downstream_gene_variant SKCA-BR 18 54701777 54701777 single base substitution G T downstream_gene_variant SKCA-BR 18 54703459 54703459 single base substitution G A downstream_gene_variant SKCA-BR 18 54703481 54703481 single base substitution A G downstream_gene_variant SKCM-US 18 54339780 54339780 single base substitution C T intron_variant SKCM-US 18 54339780 54339780 single base substitution C T missense_variant L12F 34C>T SKCM-US 18 54339790 54339790 single base substitution G A intron_variant SKCM-US 18 54339790 54339790 single base substitution G A missense_variant R15Q 44G>A SKCM-US 18 54349978 54349978 single base substitution C T intron_variant SKCM-US 18 54349978 54349978 single base substitution C T synonymous_variant I138I 414C>T SKCM-US 18 54358469 54358469 single base substitution C T intron_variant SKCM-US 18 54358469 54358469 single base substitution C T missense_variant S247F 740C>T SKCM-US 18 54358469 54358469 single base substitution C T upstream_gene_variant SKCM-US 18 54363639 54363639 single base substitution C T exon_variant SKCM-US 18 54363639 54363639 single base substitution C T intron_variant SKCM-US 18 54363639 54363639 single base substitution C T synonymous_variant F508F 1524C>T SKCM-US 18 54385259 54385259 single base substitution G A intron_variant SKCM-US 18 54385259 54385259 single base substitution G A missense_variant R548Q 1643G>A SKCM-US 18 54385259 54385259 single base substitution G A upstream_gene_variant SKCM-US 18 54444026 54444026 single base substitution C T intron_variant SKCM-US 18 54444026 54444026 single base substitution C T synonymous_variant V954V 2862C>T SKCM-US 18 54591200 54591200 single base substitution C T intron_variant SKCM-US 18 54591200 54591200 single base substitution C T missense_variant P1159S 3475C>T SKCM-US 18 54591200 54591200 single base substitution C T missense_variant P1192S 3574C>T SKCM-US 18 54591200 54591200 single base substitution C T missense_variant P55S 163C>T SKCM-US 18 54606596 54606596 single base substitution C T 3_prime_UTR_variant SKCM-US 18 54606596 54606596 single base substitution C T downstream_gene_variant SKCM-US 18 54606596 54606596 single base substitution C T intron_variant SKCM-US 18 54606596 54606596 single base substitution C T missense_variant L1313F 3937C>T SKCM-US 18 54606596 54606596 single base substitution C T missense_variant L1346F 4036C>T SKCM-US 18 54694330 54694330 single base substitution G A synonymous_variant A1422A 4266G>A SKCM-US 18 54694330 54694330 single base substitution G A synonymous_variant A1455A 4365G>A SKCM-US 18 54694330 54694330 single base substitution G A synonymous_variant A32A 96G>A STAD-US 18 54339760 54339760 single base substitution G T intron_variant STAD-US 18 54339760 54339760 single base substitution G T missense_variant S5I 14G>T STAD-US 18 54349956 54349956 single base substitution G A intron_variant STAD-US 18 54349956 54349956 single base substitution G A missense_variant C131Y 392G>A STAD-US 18 54353252 54353252 single base substitution A G downstream_gene_variant STAD-US 18 54353252 54353252 single base substitution A G intron_variant STAD-US 18 54353252 54353252 single base substitution A G missense_variant S196G 586A>G STAD-US 18 54358513 54358513 deletion of <=200bp G - frameshift_variant G262 STAD-US 18 54358513 54358513 deletion of <=200bp G - intron_variant STAD-US 18 54358513 54358513 deletion of <=200bp G - upstream_gene_variant STAD-US 18 54358513 54358513 single base substitution G T intron_variant STAD-US 18 54358513 54358513 single base substitution G T missense_variant G262W 784G>T STAD-US 18 54358513 54358513 single base substitution G T upstream_gene_variant STAD-US 18 54358982 54358982 single base substitution G A intron_variant STAD-US 18 54358982 54358982 single base substitution G A synonymous_variant V300V 900G>A STAD-US 18 54358982 54358982 single base substitution G A upstream_gene_variant STAD-US 18 54363663 54363663 single base substitution T A exon_variant STAD-US 18 54363663 54363663 single base substitution T A intron_variant STAD-US 18 54363663 54363663 single base substitution T A synonymous_variant T516T 1548T>A STAD-US 18 54398627 54398627 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant STAD-US 18 54398627 54398627 single base substitution T C intron_variant STAD-US 18 54398627 54398627 single base substitution T C synonymous_variant R17R 51T>C STAD-US 18 54398627 54398627 single base substitution T C synonymous_variant R596R 1788T>C STAD-US 18 54424020 54424020 deletion of <=200bp T - downstream_gene_variant STAD-US 18 54424020 54424020 deletion of <=200bp T - frameshift_variant S134 STAD-US 18 54424020 54424020 deletion of <=200bp T - frameshift_variant S153 STAD-US 18 54424020 54424020 deletion of <=200bp T - frameshift_variant S732 STAD-US 18 54424020 54424020 deletion of <=200bp T - intron_variant STAD-US 18 54424020 54424020 deletion of <=200bp T - upstream_gene_variant STAD-US 18 54424291 54424291 single base substitution C T downstream_gene_variant STAD-US 18 54424291 54424291 single base substitution C T intron_variant STAD-US 18 54424291 54424291 single base substitution C T missense_variant R225C 673C>T STAD-US 18 54424291 54424291 single base substitution C T missense_variant R823C 2467C>T STAD-US 18 54424291 54424291 single base substitution C T upstream_gene_variant STAD-US 18 54424292 54424292 single base substitution G A downstream_gene_variant STAD-US 18 54424292 54424292 single base substitution G A intron_variant STAD-US 18 54424292 54424292 single base substitution G A missense_variant R225H 674G>A STAD-US 18 54424292 54424292 single base substitution G A missense_variant R823H 2468G>A STAD-US 18 54424292 54424292 single base substitution G A upstream_gene_variant STAD-US 18 54424333 54424333 single base substitution C A downstream_gene_variant STAD-US 18 54424333 54424333 single base substitution C A intron_variant STAD-US 18 54424333 54424333 single base substitution C A missense_variant L239I 715C>A STAD-US 18 54424333 54424333 single base substitution C A missense_variant L837I 2509C>A STAD-US 18 54424333 54424333 single base substitution C A upstream_gene_variant STAD-US 18 54424475 54424475 single base substitution G A downstream_gene_variant STAD-US 18 54424475 54424475 single base substitution G A intron_variant STAD-US 18 54424475 54424475 single base substitution G A missense_variant R286H 857G>A STAD-US 18 54424475 54424475 single base substitution G A missense_variant R884H 2651G>A STAD-US 18 54424475 54424475 single base substitution G A upstream_gene_variant STAD-US 18 54446705 54446705 single base substitution C A exon_variant STAD-US 18 54446705 54446705 single base substitution C A intron_variant STAD-US 18 54446705 54446705 single base substitution C A missense_variant D964E 2892C>A STAD-US 18 54446705 54446705 single base substitution C A missense_variant D997E 2991C>A STAD-US 18 54483305 54483305 single base substitution T C intron_variant STAD-US 18 54483305 54483305 single base substitution T C synonymous_variant P1045P 3135T>C STAD-US 18 54483305 54483305 single base substitution T C synonymous_variant P1078P 3234T>C STAD-US 18 54483318 54483318 single base substitution C T intron_variant STAD-US 18 54483318 54483318 single base substitution C T missense_variant P1050S 3148C>T STAD-US 18 54483318 54483318 single base substitution C T missense_variant P1083S 3247C>T STAD-US 18 54591218 54591218 single base substitution C T intron_variant STAD-US 18 54591218 54591218 single base substitution C T stop_gained R1165* 3493C>T STAD-US 18 54591218 54591218 single base substitution C T stop_gained R1198* 3592C>T STAD-US 18 54591218 54591218 single base substitution C T stop_gained R61* 181C>T STAD-US 18 54591291 54591291 single base substitution T C intron_variant STAD-US 18 54591291 54591291 single base substitution T C missense_variant L1189P 3566T>C STAD-US 18 54591291 54591291 single base substitution T C missense_variant L1222P 3665T>C STAD-US 18 54591291 54591291 single base substitution T C missense_variant L85P 254T>C STAD-US 18 54603098 54603098 single base substitution G A exon_variant STAD-US 18 54603098 54603098 single base substitution G A intron_variant STAD-US 18 54603098 54603098 single base substitution G A missense_variant A1232T 3694G>A STAD-US 18 54603098 54603098 single base substitution G A missense_variant A1265T 3793G>A STAD-US 18 54603098 54603098 single base substitution G A missense_variant A128T 382G>A STAD-US 18 54629676 54629676 single base substitution C T 3_prime_UTR_variant STAD-US 18 54629676 54629676 single base substitution C T intron_variant STAD-US 18 54629676 54629676 single base substitution C T synonymous_variant S1327S 3981C>T STAD-US 18 54629676 54629676 single base substitution C T synonymous_variant S1360S 4080C>T STAD-US 18 54629676 54629676 single base substitution C T synonymous_variant S3S 9C>T THCA-SA 18 54446687 54446687 insertion of <=200bp - A exon_variant THCA-SA 18 54446687 54446687 insertion of <=200bp - A frameshift_variant H958Q? THCA-SA 18 54446687 54446687 insertion of <=200bp - A frameshift_variant H991Q? THCA-SA 18 54446687 54446687 insertion of <=200bp - A intron_variant THCA-SA 18 54694857 54694857 single base substitution A C 3_prime_UTR_variant THCA-SA 18 54694857 54694857 single base substitution A C downstream_gene_variant THCA-US 18 54362346 54362346 single base substitution G A exon_variant THCA-US 18 54362346 54362346 single base substitution G A intron_variant THCA-US 18 54362346 54362346 single base substitution G A missense_variant R425H 1274G>A THCA-US 18 54603138 54603138 single base substitution T C intron_variant THCA-US 18 54603138 54603138 single base substitution T C splice_donor_variant UCEC-US 18 54339828 54339828 single base substitution A G intron_variant UCEC-US 18 54339828 54339828 single base substitution A G missense_variant T28A 82A>G UCEC-US 18 54339866 54339866 single base substitution C T intron_variant UCEC-US 18 54339866 54339866 single base substitution C T synonymous_variant D40D 120C>T UCEC-US 18 54348593 54348593 single base substitution A C intron_variant UCEC-US 18 54348593 54348593 single base substitution A C missense_variant K106Q 316A>C UCEC-US 18 54354144 54354144 single base substitution G T downstream_gene_variant UCEC-US 18 54354144 54354144 single base substitution G T intron_variant UCEC-US 18 54354144 54354144 single base substitution G T missense_variant S219I 656G>T UCEC-US 18 54361879 54361879 single base substitution C A exon_variant UCEC-US 18 54361879 54361879 single base substitution C A intron_variant UCEC-US 18 54361879 54361879 single base substitution C A missense_variant F332L 996C>A UCEC-US 18 54361895 54361895 single base substitution G T exon_variant UCEC-US 18 54361895 54361895 single base substitution G T intron_variant UCEC-US 18 54361895 54361895 single base substitution G T stop_gained E338* 1012G>T UCEC-US 18 54361938 54361938 single base substitution G A exon_variant UCEC-US 18 54361938 54361938 single base substitution G A intron_variant UCEC-US 18 54361938 54361938 single base substitution G A missense_variant R352K 1055G>A UCEC-US 18 54362387 54362387 single base substitution G A exon_variant UCEC-US 18 54362387 54362387 single base substitution G A intron_variant UCEC-US 18 54362387 54362387 single base substitution G A missense_variant A439T 1315G>A UCEC-US 18 54363622 54363622 single base substitution G T exon_variant UCEC-US 18 54363622 54363622 single base substitution G T intron_variant UCEC-US 18 54363622 54363622 single base substitution G T stop_gained E503* 1507G>T UCEC-US 18 54398698 54398698 single base substitution C A intron_variant UCEC-US 18 54398698 54398698 single base substitution C A stop_gained S22* 65C>A UCEC-US 18 54398698 54398698 single base substitution C A stop_gained S41* 122C>A UCEC-US 18 54398698 54398698 single base substitution C A stop_gained S620* 1859C>A UCEC-US 18 54423918 54423918 single base substitution G A intron_variant UCEC-US 18 54423918 54423918 single base substitution G A synonymous_variant L100L 300G>A UCEC-US 18 54423918 54423918 single base substitution G A synonymous_variant L119L 357G>A UCEC-US 18 54423918 54423918 single base substitution G A synonymous_variant L698L 2094G>A UCEC-US 18 54423918 54423918 single base substitution G A upstream_gene_variant UCEC-US 18 54424048 54424048 single base substitution C A downstream_gene_variant UCEC-US 18 54424048 54424048 single base substitution C A intron_variant UCEC-US 18 54424048 54424048 single base substitution C A missense_variant L144I 430C>A UCEC-US 18 54424048 54424048 single base substitution C A missense_variant L163I 487C>A UCEC-US 18 54424048 54424048 single base substitution C A missense_variant L742I 2224C>A UCEC-US 18 54424048 54424048 single base substitution C A upstream_gene_variant UCEC-US 18 54424066 54424066 single base substitution G T downstream_gene_variant UCEC-US 18 54424066 54424066 single base substitution G T intron_variant UCEC-US 18 54424066 54424066 single base substitution G T stop_gained E150* 448G>T UCEC-US 18 54424066 54424066 single base substitution G T stop_gained E169* 505G>T UCEC-US 18 54424066 54424066 single base substitution G T stop_gained E748* 2242G>T UCEC-US 18 54424066 54424066 single base substitution G T upstream_gene_variant UCEC-US 18 54424198 54424198 single base substitution G T downstream_gene_variant UCEC-US 18 54424198 54424198 single base substitution G T intron_variant UCEC-US 18 54424198 54424198 single base substitution G T stop_gained E194* 580G>T UCEC-US 18 54424198 54424198 single base substitution G T stop_gained E792* 2374G>T UCEC-US 18 54424198 54424198 single base substitution G T upstream_gene_variant UCEC-US 18 54424511 54424511 single base substitution C A downstream_gene_variant UCEC-US 18 54424511 54424511 single base substitution C A intron_variant UCEC-US 18 54424511 54424511 single base substitution C A missense_variant S298Y 893C>A UCEC-US 18 54424511 54424511 single base substitution C A missense_variant S896Y 2687C>A UCEC-US 18 54424511 54424511 single base substitution C A upstream_gene_variant UCEC-US 18 54448877 54448877 single base substitution C T exon_variant UCEC-US 18 54448877 54448877 single base substitution C T intron_variant UCEC-US 18 54448877 54448877 single base substitution C T synonymous_variant H1027H 3081C>T UCEC-US 18 54448877 54448877 single base substitution C T synonymous_variant H1060H 3180C>T UCEC-US 18 54547241 54547241 single base substitution C T intron_variant UCEC-US 18 54547241 54547241 single base substitution C T missense_variant A1091V 3272C>T UCEC-US 18 54547241 54547241 single base substitution C T missense_variant A1124V 3371C>T UCEC-US 18 54547321 54547321 single base substitution C T intron_variant UCEC-US 18 54547321 54547321 single base substitution C T stop_gained R1118* 3352C>T UCEC-US 18 54547321 54547321 single base substitution C T stop_gained R1151* 3451C>T UCEC-US 18 54547323 54547323 single base substitution A G intron_variant UCEC-US 18 54547323 54547323 single base substitution A G synonymous_variant R1118R 3354A>G UCEC-US 18 54547323 54547323 single base substitution A G synonymous_variant R1151R 3453A>G UCEC-US 18 54605869 54605869 single base substitution C A 3_prime_UTR_variant UCEC-US 18 54605869 54605869 single base substitution C A intron_variant UCEC-US 18 54605869 54605869 single base substitution C A missense_variant L1280I 3838C>A UCEC-US 18 54605869 54605869 single base substitution C A missense_variant L1313I 3937C>A UCEC-US 18 54605869 54605869 single base substitution C A missense_variant L176I 526C>A UCEC-US 18 54606619 54606619 single base substitution C T 3_prime_UTR_variant UCEC-US 18 54606619 54606619 single base substitution C T downstream_gene_variant UCEC-US 18 54606619 54606619 single base substitution C T intron_variant UCEC-US 18 54606619 54606619 single base substitution C T synonymous_variant I1320I 3960C>T UCEC-US 18 54606619 54606619 single base substitution C T synonymous_variant I1353I 4059C>T UCEC-US 18 54694426 54694426 single base substitution C T synonymous_variant R1454R 4362C>T UCEC-US 18 54694426 54694426 single base substitution C T synonymous_variant R1487R 4461C>T UCEC-US 18 54694426 54694426 single base substitution C T synonymous_variant R64R 192C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-F4-6809-01 COSM1389197 c.103G>A p.V35I Substitution - Missense 18:56672618-56672618 + 255 COSM3732295 c.1825G>A p.A609T Substitution - Missense 18:56731433-56731433 + SCC-9 COSM2880323 c.781A>T p.T261S Substitution - Missense 18:56691279-56691279 + TCGA-AP-A059-01 COSM989099 c.2094G>A p.L698L Substitution - coding silent 18:56756687-56756687 + I2L-P19Tb-Tumor-Biopsy COSM1389203 c.1648delA p.K551fs*3 Deletion - Frameshift 18:56718033-56718033 + TCGA-DD-A3A8-01 COSM4934941 c.758C>G p.P253R Substitution - Missense 18:56691256-56691256 + YULAN COSM1711412 c.3347C>T p.S1116F Substitution - Missense 18:56879986-56879986 + S01366 COSM316551 c.1374A>T p.R458S Substitution - Missense 18:56696258-56696258 + TCGA-EM-A2CT-01 COSM3371082 c.3831+2T>C p.? Unknown 18:56935907-56935907 + 19 COSM5747939 c.1258C>T p.R420* Substitution - Nonsense 18:56695099-56695099 + TCGA-F5-6814-01 COSM2880330 c.1158G>T p.L386L Substitution - coding silent 18:56694999-56694999 + PD4120a COSM165589 c.1834G>A p.E612K Substitution - Missense 18:56731442-56731442 + 587294 COSM1232646 c.3320T>C p.V1107A Substitution - Missense 18:56879959-56879959 + LS174T COSM2880324 c.784delG p.D264fs*44 Deletion - Frameshift 18:56691282-56691282 + RK268_C01 COSM4945445 c.1076C>G p.S359* Substitution - Nonsense 18:56694728-56694728 + TCGA-BR-4292-01 COSM4072669 c.14G>T p.S5I Substitution - Missense 18:56672529-56672529 + TCGA-FG-6692-01 COSM3970591 c.2502G>A p.S834S Substitution - coding silent 18:56757095-56757095 + TCGA-GF-A6C9-06 COSM4901716 c.3574C>T p.P1192S Substitution - Missense 18:56923969-56923969 + TCGA-CM-6162-01 COSM1389207 c.3181G>A p.V1061I Substitution - Missense 18:56781647-56781647 + TCGA-CG-5723-01 COSM1389213 c.3793G>A p.A1265T Substitution - Missense 18:56935867-56935867 + ESCC_40 COSM5629360 c.2536C>G p.L846V Substitution - Missense 18:56757129-56757129 + 2492725 COSM5725114 c.4393C>T p.L1465L Substitution - coding silent 18:57027127-57027127 + LUAD-NYU408 COSM374273 c.2977G>T p.V993F Substitution - Missense 18:56779460-56779460 + TCGA-DA-A1HV-06 COSM3526631 c.1643G>A p.R548Q Substitution - Missense 18:56718028-56718028 + WSU-HN30 COSM4600772 c.1991G>A p.G664E Substitution - Missense 18:56756584-56756584 + T578 COSM2880318 c.503G>A p.R168Q Substitution - Missense 18:56682836-56682836 + TCGA-BH-A18P-01 COSM438239 c.4039C>T p.Q1347* Substitution - Nonsense 18:56939368-56939368 + 2_RESISTANT COSM1722950 c.1793T>G p.V598G Substitution - Missense 18:56731401-56731401 + PCSI_0161_Pa_P_526 COSM4965929 c.3539C>T p.T1180M Substitution - Missense 18:56923934-56923934 + S02360 COSM5696058 c.2656G>T p.V886F Substitution - Missense 18:56757249-56757249 + Pat_06_A COSM2880324 c.784delG p.D264fs*44 Deletion - Frameshift 18:56691282-56691282 + D3 COSM5006767 c.3875A>G p.Q1292R Substitution - Missense 18:56938576-56938576 + CHC892T COSM4795184 c.2619G>A p.E873E Substitution - coding silent 18:56757212-56757212 + HCC017T COSM5815047 c.2049A>T p.L683L Substitution - coding silent 18:56756642-56756642 + TCGA-EK-A2RB-01 COSM4819991 c.465G>C p.K155N Substitution - Missense 18:56682798-56682798 + TCGA-F1-A448-01 COSM1324551 c.2467C>T p.R823C Substitution - Missense 18:56757060-56757060 + LIM2405 COSM4642216 c.1898C>T p.T633M Substitution - Missense 18:56731506-56731506 + RKO COSM4648160 c.846T>A p.I282I Substitution - coding silent 18:56691344-56691344 + TCGA-AX-A05Z-01 COSM989089 c.316A>C p.K106Q Substitution - Missense 18:56681362-56681362 + TCGA-D1-A0ZV-01 COSM233765 c.3338T>A p.I1113N Substitution - Missense 18:56879977-56879977 + TCGA-EE-A29B-06 COSM3526630 c.1524C>T p.F508F Substitution - coding silent 18:56696408-56696408 + SWE-54A COSM1178453 c.712T>A p.W238R Substitution - Missense 18:56686969-56686969 + HN_62426 COSM127029 c.4318C>T p.Q1440* Substitution - Nonsense 18:57027052-57027052 + LS180 COSM2880324 c.784delG p.D264fs*44 Deletion - Frameshift 18:56691282-56691282 + 4_PRE-TREATMENT COSM1724404 c.3055C>T p.R1019* Substitution - Nonsense 18:56779538-56779538 + SNU-C4 COSM4652985 c.2182G>A p.D728N Substitution - Missense 18:56756775-56756775 + TCGA-HU-A4GX-01 COSM4072688 c.3592C>T p.R1198* Substitution - Nonsense 18:56923987-56923987 + ESO-327 COSM1270421 c.3163C>A p.P1055T Substitution - Missense 18:56781629-56781629 + RK001_C01 COSM1630614 c.1610C>A p.A537D Substitution - Missense 18:56717995-56717995 + ORL-48 COSM4596897 c.3691G>T p.D1231Y Substitution - Missense 18:56924086-56924086 + Pat_41_B COSM5854303 c.1989+1G>A p.? Unknown 18:56731598-56731598 + TCGA-BR-6452-01 COSM4072673 c.586A>G p.S196G Substitution - Missense 18:56686021-56686021 + LUAD-F00134 COSM339958 c.953G>A p.R318Q Substitution - Missense 18:56691804-56691804 + PD6752a COSM1637790 c.2575T>A p.S859T Substitution - Missense 18:56757168-56757168 + TCGA-EE-A2GC-06 COSM3526625 c.44G>A p.R15Q Substitution - Missense 18:56672559-56672559 + TCGA-D1-A17U-01 COSM989087 c.120C>T p.D40D Substitution - coding silent 18:56672635-56672635 + PCSI_0297_Pa_P_526 COSM4741059 c.3619C>T p.R1207C Substitution - Missense 18:56924014-56924014 + TCGA-66-2786-01 COSM709303 c.1975G>C p.E659Q Substitution - Missense 18:56731583-56731583 + HCT8 COSM2880373 c.2748G>T p.K916N Substitution - Missense 18:56757341-56757341 + Gp5D COSM2880315 c.338G>A p.G113D Substitution - Missense 18:56681384-56681384 + LUAD_E01166 COSM390791 c.3735G>A p.L1245L Substitution - coding silent 18:56935809-56935809 + RK229_C01 COSM4780329 c.1455G>T p.L485L Substitution - coding silent 18:56696339-56696339 + LUAD-CHTN-Z4716A COSM361923 c.3624G>A p.G1208G Substitution - coding silent 18:56924019-56924019 + TCGA-A2-A0EQ-01 COSM438233 c.1597A>G p.I533V Substitution - Missense 18:56717982-56717982 + TCGA-AD-6964-01 COSM1389210 c.3696C>T p.A1232A Substitution - coding silent 18:56924091-56924091 + H1672 COSM316548 c.2987C>T p.P996L Substitution - Missense 18:56779470-56779470 + TCGA-HU-A4GT-01 COSM1389213 c.3793G>A p.A1265T Substitution - Missense 18:56935867-56935867 + TCGA-AP-A0LM-01 COSM989107 c.3453A>G p.R1151R Substitution - coding silent 18:56880092-56880092 + HT115 COSM2880380 c.2866T>C p.S956P Substitution - Missense 18:56776799-56776799 + TCGA-60-2720-01 COSM709301 c.2123C>T p.S708F Substitution - Missense 18:56756716-56756716 + C0021T COSM4153991 c.2759+5G>A p.? Unknown 18:56757357-56757357 + HN_62739 COSM130209 c.2612C>T p.A871V Substitution - Missense 18:56757205-56757205 + T44 COSM5343140 c.564C>A p.V188V Substitution - coding silent 18:56685999-56685999 + YURUS COSM1389198 c.121G>A p.G41R Substitution - Missense 18:56672636-56672636 + S00943 COSM316550 c.543G>T p.S181S Substitution - coding silent 18:56685978-56685978 + HCC78T COSM1611304 c.2920T>C p.L974L Substitution - coding silent 18:56776853-56776853 + 9227_T COSM5039388 c.4054G>A p.A1352T Substitution - Missense 18:56939383-56939383 + TCGA-AP-A056-01 COSM989109 c.4059C>T p.I1353I Substitution - coding silent 18:56939388-56939388 + LUAD-B01970 COSM356063 c.166C>T p.P56S Substitution - Missense 18:56679338-56679338 + LUAD-S01478 COSM399783 c.2425G>T p.A809S Substitution - Missense 18:56757018-56757018 + TCGA-EJ-5496-01 COSM1130057 c.3773C>T p.A1258V Substitution - Missense 18:56935847-56935847 + B89-16-Tumor COSM1750548 c.672A>G p.A224A Substitution - coding silent 18:56686929-56686929 + S0078 COSM5883002 c.787G>T p.G263W Substitution - Missense 18:56691285-56691285 + TCGA-AP-A0LT-01 COSM989105 c.3371C>T p.A1124V Substitution - Missense 18:56880010-56880010 + LS174T COSM4645971 c.3213G>A p.A1071A Substitution - coding silent 18:56816053-56816053 + TCGA-25-1628-01 COSM82445 c.3780G>A p.S1260S Substitution - coding silent 18:56935854-56935854 + PD24218a COSM5776106 c.3924A>G p.R1308R Substitution - coding silent 18:56938625-56938625 + TCGA-EE-A2M6-06 COSM3526628 c.414C>T p.I138I Substitution - coding silent 18:56682747-56682747 + TCGA-23-2078-01 COSM118973 c.863+1G>A p.? Unknown 18:56691362-56691362 + CSCC-31-T COSM4511920 c.884C>T p.S295L Substitution - Missense 18:56691735-56691735 + TCGA-A7-A26H-01 COSM1480390 c.686C>T p.S229L Substitution - Missense 18:56686943-56686943 + YUAKER COSM1711411 c.2516_2517CA>GG p.S839W Substitution - Missense 18:56757109-56757110 + 587284 COSM1232649 c.4381A>C p.N1461H Substitution - Missense 18:57027115-57027115 + HCT8 COSM2880408 c.3973C>T p.L1325F Substitution - Missense 18:56938674-56938674 + 19M COSM5579983 c.1930G>A p.A644T Substitution - Missense 18:56731538-56731538 + C70 COSM4619469 c.2975G>T p.C992F Substitution - Missense 18:56779458-56779458 + TCGA-F1-6177-01 COSM4072672 c.392G>A p.C131Y Substitution - Missense 18:56682725-56682725 + HN_62739 COSM128482 c.96C>G p.A32A Substitution - coding silent 18:56672611-56672611 + TCGA-EA-A6QX-01 COSM4828779 c.4147C>T p.R1383W Substitution - Missense 18:56962512-56962512 + TCGA-AZ-6600-01 COSM1389211 c.3724G>C p.G1242R Substitution - Missense 18:56935798-56935798 + 2492726 COSM5725114 c.4393C>T p.L1465L Substitution - coding silent 18:57027127-57027127 + REC-1 COSM1740436 c.1948A>G p.T650A Substitution - Missense 18:56731556-56731556 + PT46 COSM5929839 c.3427C>T p.P1143S Substitution - Missense 18:56880066-56880066 + TCGA-BR-4292-01 COSM4072674 c.784G>T p.G262W Substitution - Missense 18:56691282-56691282 + LP6005690-DNA_C02 COSM4412215 c.3831+7G>A p.? Unknown 18:56935912-56935912 + SS6003149 COSM3980330 c.3489T>G p.T1163T Substitution - coding silent 18:56880128-56880128 + 134398 COSM326876 c.3737G>T p.S1246I Substitution - Missense 18:56935811-56935811 + TCGA-13-1495-01 COSM73286 c.1456A>C p.I486L Substitution - Missense 18:56696340-56696340 + TCGA-AR-A0TX-01 COSM438236 c.2354C>G p.S785* Substitution - Nonsense 18:56756947-56756947 + TCGA-EJ-5524-01 COSM1130058 c.3612G>A p.L1204L Substitution - coding silent 18:56924007-56924007 + LUAD-NYU184 COSM370793 c.1377A>T p.T459T Substitution - coding silent 18:56696261-56696261 + PT35 COSM5914026 c.2785C>T p.L929F Substitution - Missense 18:56758890-56758890 + Sample_1 COSM5021188 c.598-12_598-10CTT>TTTTC p.? Unknown 18:56686843-56686845 + CHEWS008 COSM4580462 c.1917T>C p.A639A Substitution - coding silent 18:56731525-56731525 + ESO-1481 COSM1270419 c.1441G>A p.D481N Substitution - Missense 18:56696325-56696325 + C32 COSM4619095 c.4220G>C p.R1407T Substitution - Missense 18:57020800-57020800 + sysucc-1370T COSM5470831 c.3079G>A p.A1027T Substitution - Missense 18:56781545-56781545 + PCSI_0625_Pa_P_526 COSM1389206 c.3140T>C p.I1047T Substitution - Missense 18:56781606-56781606 + HCC78 COSM1611304 c.2920T>C p.L974L Substitution - coding silent 18:56776853-56776853 + ME041T COSM228206 c.3641C>T p.P1214L Substitution - Missense 18:56924036-56924036 + 1946219 COSM1197699 c.982C>G p.P328A Substitution - Missense 18:56694634-56694634 + ASHPC_0029_Pa_P COSM3787517 c.1273C>T p.R425C Substitution - Missense 18:56695114-56695114 + DLD1 COSM4623778 c.4239A>G p.S1413S Substitution - coding silent 18:57020819-57020819 + J30_T COSM3959293 c.1647G>C p.E549D Substitution - Missense 18:56718032-56718032 + J52_T COSM3959294 c.3623G>T p.G1208V Substitution - Missense 18:56924018-56924018 + I2L-P19Tb-Tumor-Organoid COSM1389203 c.1648delA p.K551fs*3 Deletion - Frameshift 18:56718033-56718033 + B110-Tumor COSM1750549 c.2525G>T p.G842V Substitution - Missense 18:56757118-56757118 + MOLT-4 COSM1680378 c.2090C>T p.A697V Substitution - Missense 18:56756683-56756683 + sysucc-783T COSM5484205 c.2363T>C p.L788S Substitution - Missense 18:56756956-56756956 + TCGA-CM-6168-01 COSM1389206 c.3140T>C p.I1047T Substitution - Missense 18:56781606-56781606 + TCGA-B5-A11E-01 COSM989101 c.2242G>T p.E748* Substitution - Nonsense 18:56756835-56756835 + HCC59T COSM3717959 c.1736G>A p.C579Y Substitution - Missense 18:56718121-56718121 + TCGA-AM-5820-01 COSM3692149 c.2567G>A p.C856Y Substitution - Missense 18:56757160-56757160 + TCGA-EE-A2MF-06 COSM3403577 c.4365G>A p.A1455A Substitution - coding silent 18:57027099-57027099 + TCGA-BR-7703-01 COSM4072685 c.2991C>A p.D997E Substitution - Missense 18:56779474-56779474 + TCGA-BR-4292-01 COSM4072682 c.2651G>A p.R884H Substitution - Missense 18:56757244-56757244 + TCGA-GD-A3OQ-01 COSM1303781 c.3347C>G p.S1116C Substitution - Missense 18:56879986-56879986 + YUROS COSM5388278 c.4416C>T p.S1472S Substitution - coding silent 18:57027150-57027150 + 35M COSM1389207 c.3181G>A p.V1061I Substitution - Missense 18:56781647-56781647 + DLD1 COSM4623777 c.2807C>A p.P936H Substitution - Missense 18:56758912-56758912 + TCGA-AX-A05Z-01 COSM989103 c.2687C>A p.S896Y Substitution - Missense 18:56757280-56757280 + 2024537 COSM399783 c.2425G>T p.A809S Substitution - Missense 18:56757018-56757018 + TCGA-BH-A18U-01 COSM438231 c.486C>T p.S162S Substitution - coding silent 18:56682819-56682819 + DLD1 COSM2880373 c.2748G>T p.K916N Substitution - Missense 18:56757341-56757341 + YUWIA COSM5388276 c.3501C>T p.S1167S Substitution - coding silent 18:56880140-56880140 + CSCC-27-T COSM4477106 c.2121C>T p.A707A Substitution - coding silent 18:56756714-56756714 + TCGA-BH-A18T-01 COSM438232 c.1195G>T p.V399L Substitution - Missense 18:56695036-56695036 + TCGA-B5-A0JY-01 COSM989096 c.1507G>T p.E503* Substitution - Nonsense 18:56696391-56696391 + LUAD-E00918 COSM365119 c.2463G>T p.L821L Substitution - coding silent 18:56757056-56757056 + HCT15 COSM2880408 c.3973C>T p.L1325F Substitution - Missense 18:56938674-56938674 + sysucc-1370T COSM174162 c.1436G>A p.R479Q Substitution - Missense 18:56696320-56696320 + PTC_221 COSM5960192 c.2973_2974insA p.C992fs*12 Insertion - Frameshift 18:56779456-56779457 + SC_9091 COSM5572797 c.2006A>G p.Y669C Substitution - Missense 18:56756599-56756599 + TCGA-F5-6814-01 COSM339958 c.953G>A p.R318Q Substitution - Missense 18:56691804-56691804 + TCGA-EE-A29B-06 COSM3526633 c.4036C>T p.L1346F Substitution - Missense 18:56939365-56939365 + TCGA-AX-A05Z-01 COSM989091 c.996C>A p.F332L Substitution - Missense 18:56694648-56694648 + S00941 COSM5663698 c.1733G>C p.G578A Substitution - Missense 18:56718118-56718118 + 2334192 COSM316548 c.2987C>T p.P996L Substitution - Missense 18:56779470-56779470 + TCGA-AP-A0LM-01 COSM989095 c.1315G>A p.A439T Substitution - Missense 18:56695156-56695156 + T1154 COSM4741059 c.3619C>T p.R1207C Substitution - Missense 18:56924014-56924014 + TCGA-CG-5721-01 COSM4072679 c.1788T>C p.R596R Substitution - coding silent 18:56731396-56731396 + 019T COSM1727917 c.1493A>T p.D498V Substitution - Missense 18:56696377-56696377 + RKO COSM4648159 c.710A>T p.Y237F Substitution - Missense 18:56686967-56686967 + HCT15 COSM2880373 c.2748G>T p.K916N Substitution - Missense 18:56757341-56757341 + TCGA-34-5928-01 COSM709300 c.2254G>C p.E752Q Substitution - Missense 18:56756847-56756847 + LUAD-YINHD COSM392644 c.265delG p.G89fs*8 Deletion - Frameshift 18:56679437-56679437 + Pat_31_B COSM5854301 c.43C>T p.R15* Substitution - Nonsense 18:56672558-56672558 + HCC59 COSM3717959 c.1736G>A p.C579Y Substitution - Missense 18:56718121-56718121 + 2462859 COSM5711931 c.2525G>A p.G842D Substitution - Missense 18:56757118-56757118 + 2_PRE-TREATMENT COSM1722950 c.1793T>G p.V598G Substitution - Missense 18:56731401-56731401 + TCGA-EX-A1H5-01 COSM460118 c.3949A>G p.M1317V Substitution - Missense 18:56938650-56938650 + TCGA-F1-6177-01 COSM4072689 c.3665T>C p.L1222P Substitution - Missense 18:56924060-56924060 + TCGA-33-6737-01 COSM709302 c.2054A>T p.D685V Substitution - Missense 18:56756647-56756647 + TCGA-GV-A3QF-01 COSM3796459 c.4320G>A p.Q1440Q Substitution - coding silent 18:57027054-57027054 + I2L-P19Tb-Tumor-Organoid COSM1389199 c.783_784insG p.D264fs*7 Insertion - Frameshift 18:56691281-56691282 + 2521259 COSM5891033 c.4315C>T p.P1439S Substitution - Missense 18:57027049-57027049 + HCC2998 COSM2880330 c.1158G>T p.L386L Substitution - coding silent 18:56694999-56694999 + SC_9103 COSM5571926 c.2497G>A p.V833I Substitution - Missense 18:56757090-56757090 + S01512 COSM316552 c.4340A>G p.Y1447C Substitution - Missense 18:57027074-57027074 + TCGA-DB-A4XH-01 COSM3970592 c.3040C>T p.R1014* Substitution - Nonsense 18:56779523-56779523 + C0071T COSM4153990 c.32T>A p.V11D Substitution - Missense 18:56672547-56672547 + TCGA-AD-5900-01 COSM1389208 c.3216G>A p.Q1072Q Substitution - coding silent 18:56816056-56816056 + LP6007398-DNA_A01 COSM5951721 c.3931G>T p.E1311* Substitution - Nonsense 18:56938632-56938632 + S01512 COSM316552 c.4340A>G p.Y1447C Substitution - Missense 18:57027074-57027074 + TCGA-AX-A0J0-01 COSM989098 c.1859C>A p.S620* Substitution - Nonsense 18:56731467-56731467 + Gp2D COSM2880331 c.1194T>C p.S398S Substitution - coding silent 18:56695035-56695035 + TCGA-AA-A010-01 COSM286519 c.484A>C p.S162R Substitution - Missense 18:56682817-56682817 + ccRCC-98 COSM1665005 c.1853T>A p.V618D Substitution - Missense 18:56731461-56731461 + TCGA-A1-A0SH-01 COSM438235 c.2250C>G p.I750M Substitution - Missense 18:56756843-56756843 + HCC144T COSM3717960 c.4178A>G p.H1393R Substitution - Missense 18:57020758-57020758 + QC2-22-T2 COSM5653072 c.2854G>T p.A952S Substitution - Missense 18:56776787-56776787 + TCGA-60-2725-01 COSM709304 c.1931C>G p.A644G Substitution - Missense 18:56731539-56731539 + PD4203a COSM165590 c.4063A>T p.R1355W Substitution - Missense 18:56939392-56939392 + HF-23896 COSM1197699 c.982C>G p.P328A Substitution - Missense 18:56694634-56694634 + SC_9047 COSM2880361 c.2196delT p.L734fs*1 Deletion - Frameshift 18:56756789-56756789 + 587332 COSM1232648 c.4420C>T p.R1474C Substitution - Missense 18:57027154-57027154 + LUAD-RT-S01777 COSM382043 c.2460C>T p.C820C Substitution - coding silent 18:56757053-56757053 + TCGA-B0-5119-01 COSM473925 c.1037A>G p.Q346R Substitution - Missense 18:56694689-56694689 + TCGA-CG-5733-01 COSM4072690 c.4080C>T p.S1360S Substitution - coding silent 18:56962445-56962445 + DLD1 COSM2880408 c.3973C>T p.L1325F Substitution - Missense 18:56938674-56938674 + TCGA-FW-A3R5-06 COSM3526630 c.1524C>T p.F508F Substitution - coding silent 18:56696408-56696408 + TCGA-AN-A03X-01 COSM5833563 c.4406delT p.I1469fs*>22 Deletion - Frameshift 18:57027140-57027140 + TCGA-AA-3715-01 COSM270551 c.4366T>C p.S1456P Substitution - Missense 18:57027100-57027100 + LUAD-YINHD COSM349488 c.1990-1G>T p.? Unknown 18:56756582-56756582 + ccRCC-41 COSM1665004 c.19G>T p.V7F Substitution - Missense 18:56672534-56672534 + TCGA-DD-A11A-01 COSM4940341 c.3249T>C p.P1083P Substitution - coding silent 18:56816089-56816089 + FM403T COSM673858 c.781A>C p.T261P Substitution - Missense 18:56691279-56691279 + TCGA-AX-A0J0-01 COSM989108 c.3937C>A p.L1313I Substitution - Missense 18:56938638-56938638 + TCGA-CG-5721-01 COSM4072687 c.3247C>T p.P1083S Substitution - Missense 18:56816087-56816087 + TCGA-CG-5733-01 COSM4072686 c.3234T>C p.P1078P Substitution - coding silent 18:56816074-56816074 + RK125_C01 COSM3701384 c.1413A>G p.L471L Substitution - coding silent 18:56696297-56696297 + HCC144 COSM3717960 c.4178A>G p.H1393R Substitution - Missense 18:57020758-57020758 + TCGA-AN-A046-01 COSM3821599 c.3679G>T p.E1227* Substitution - Nonsense 18:56924074-56924074 + TCGA-FJ-A3Z7-01 COSM3796458 c.4213G>A p.D1405N Substitution - Missense 18:57020793-57020793 + Gp2D COSM2880315 c.338G>A p.G113D Substitution - Missense 18:56681384-56681384 + LP6007438-DNA_A01 COSM4408586 c.2171C>G p.S724C Substitution - Missense 18:56756764-56756764 + 587228 COSM1232647 c.4164+1G>A p.? Unknown 18:56962530-56962530 + T3262 COSM2880361 c.2196delT p.L734fs*1 Deletion - Frameshift 18:56756789-56756789 + PT48 COSM5933754 c.3431C>T p.P1144L Substitution - Missense 18:56880070-56880070 + LUAD-RT-S01774 COSM392244 c.2645_2654del10 p.V882fs*17 Deletion - Frameshift 18:56757238-56757247 + cSCCP2 COSM137674 c.1561C>T p.P521S Substitution - Missense 18:56696445-56696445 + 4_RESISTANT COSM1724404 c.3055C>T p.R1019* Substitution - Nonsense 18:56779538-56779538 + TCGA-IR-A3LL-01 COSM4849697 c.3948G>C p.K1316N Substitution - Missense 18:56938649-56938649 + CHC892T COSM4795184 c.2619G>A p.E873E Substitution - coding silent 18:56757212-56757212 + GC1_T COSM3748664 c.889C>T p.R297C Substitution - Missense 18:56691740-56691740 + UM-SCC-17B COSM4598308 c.2064A>G p.I688M Substitution - Missense 18:56756657-56756657 + 43T COSM107251 c.1933C>T p.H645Y Substitution - Missense 18:56731541-56731541 + TCGA-D5-6930-01 COSM1389203 c.1648delA p.K551fs*3 Deletion - Frameshift 18:56718033-56718033 + PT15_1 COSM5897982 c.3469C>T p.P1157S Substitution - Missense 18:56880108-56880108 + RW2982 COSM2880382 c.2982G>C p.M994I Substitution - Missense 18:56779465-56779465 + TCGA-A6-6781-01 COSM1389200 c.784G>A p.G262R Substitution - Missense 18:56691282-56691282 + TCGA-EK-A2RD-01 COSM4820152 c.616G>C p.E206Q Substitution - Missense 18:56686873-56686873 + TCGA-06-0128-01 COSM3403577 c.4365G>A p.A1455A Substitution - coding silent 18:57027099-57027099 + RKO COSM4648161 c.4465A>G p.M1489V Substitution - Missense 18:57027199-57027199 + RW2982 COSM2880349 c.2031A>G p.Q677Q Substitution - coding silent 18:56756624-56756624 + TCGA-CW-6087-01 COSM473926 c.2499A>G p.V833V Substitution - coding silent 18:56757092-56757092 + SC_9083 COSM5571444 c.1298T>C p.V433A Substitution - Missense 18:56695139-56695139 + TCGA-GN-A26C-01 COSM3526629 c.740C>T p.S247F Substitution - Missense 18:56691238-56691238 + TCGA-EE-A29S-06 COSM3526632 c.2862C>T p.V954V Substitution - coding silent 18:56776795-56776795 + ESCC-116T COSM3937767 c.1734G>C p.G578G Substitution - coding silent 18:56718119-56718119 + TCGA-A6-6780-01 COSM1389199 c.783_784insG p.D264fs*7 Insertion - Frameshift 18:56691281-56691282 + TCGA-BR-8589-01 COSM4072676 c.1548T>A p.T516T Substitution - coding silent 18:56696432-56696432 + TCGA-BS-A0TE-01 COSM989094 c.1057T>C p.L353L Substitution - coding silent 18:56694709-56694709 + TCGA-CK-5913-01 COSM1389204 c.2048T>C p.L683P Substitution - Missense 18:56756641-56756641 + TCGA-AP-A0LM-01 COSM989106 c.3451C>T p.R1151* Substitution - Nonsense 18:56880090-56880090 + SNU-C4 COSM4652984 c.1579G>A p.A527T Substitution - Missense 18:56717964-56717964 + TCGA-EI-6917-01 COSM3422244 c.1991G>T p.G664V Substitution - Missense 18:56756584-56756584 + B110 COSM1750549 c.2525G>T p.G842V Substitution - Missense 18:56757118-56757118 + HRA19 COSM4637778 c.2768G>A p.R923K Substitution - Missense 18:56758873-56758873 + S00539 COSM316549 c.773A>G p.Q258R Substitution - Missense 18:56691271-56691271 + TCGA-B5-A11N-01 COSM989100 c.2224C>A p.L742I Substitution - Missense 18:56756817-56756817 + ESCC_124 COSM5640994 c.2918C>A p.A973D Substitution - Missense 18:56776851-56776851 + TCGA-AN-A0AK-01 COSM3821598 c.717+2T>C p.? Unknown 18:56686976-56686976 + D-14 COSM4766941 c.2579A>T p.H860L Substitution - Missense 18:56757172-56757172 + LAU165 COSM233765 c.3338T>A p.I1113N Substitution - Missense 18:56879977-56879977 + TCGA-43-6143-01 COSM709310 c.25C>T p.P9S Substitution - Missense 18:56672540-56672540 + T3064 COSM2880324 c.784delG p.D264fs*44 Deletion - Frameshift 18:56691282-56691282 + Pat_41_B COSM5854302 c.1507G>A p.E503K Substitution - Missense 18:56696391-56696391 + 2492724 COSM5725114 c.4393C>T p.L1465L Substitution - coding silent 18:57027127-57027127 + Pat_65_A COSM2880324 c.784delG p.D264fs*44 Deletion - Frameshift 18:56691282-56691282 + OSCC-GB_00680111 COSM4887707 c.3670G>A p.G1224R Substitution - Missense 18:56924065-56924065 + TCGA-FP-A4BE-01 COSM4072681 c.2509C>A p.L837I Substitution - Missense 18:56757102-56757102 + pfg008T COSM1641000 c.1411C>T p.L471L Substitution - coding silent 18:56696295-56696295 + ESO-167 COSM1270420 c.3873G>A p.Q1291Q Substitution - coding silent 18:56938574-56938574 + PT23_2 COSM5903971 c.3829G>A p.E1277K Substitution - Missense 18:56935903-56935903 + TCGA-G3-A25W-01 COSM4927261 c.1182A>G p.I394M Substitution - Missense 18:56695023-56695023 + TCGA-B6-A0RH-01 COSM438234 c.1616A>T p.D539V Substitution - Missense 18:56718001-56718001 + 61 COSM5741278 c.4247A>G p.D1416G Substitution - Missense 18:57020827-57020827 + TCGA-BS-A0TC-01 COSM989103 c.2687C>A p.S896Y Substitution - Missense 18:56757280-56757280 + TCGA-23-2647-01 COSM1324551 c.2467C>T p.R823C Substitution - Missense 18:56757060-56757060 + TCGA-AX-A05S-01 COSM989104 c.3180C>T p.H1060H Substitution - coding silent 18:56781646-56781646 + TCGA-FS-A4F5-06 COSM3526624 c.34C>T p.L12F Substitution - Missense 18:56672549-56672549 + TCGA-DK-A3IU-01 COSM3796455 c.292G>A p.D98N Substitution - Missense 18:56681338-56681338 + TCGA-EL-A3T3-01 COSM1582375 c.1274G>A p.R425H Substitution - Missense 18:56695115-56695115 + CSCC-27-T COSM4456202 c.2740_2741AT>GC p.M914A Substitution - Missense 18:56757333-56757334 + TCGA-18-3421-01 COSM709308 c.353A>G p.Q118R Substitution - Missense 18:56682686-56682686 + PT37 COSM1324551 c.2467C>T p.R823C Substitution - Missense 18:56757060-56757060 + EV001-M1 COSM1162000 c.2889_2890delCT p.S964fs*3 Deletion - Frameshift 18:56776822-56776823 + 001 COSM1162000 c.2889_2890delCT p.S964fs*3 Deletion - Frameshift 18:56776822-56776823 + TCGA-JW-A852-01 COSM4823779 c.4446C>T p.D1482D Substitution - coding silent 18:57027180-57027180 + TCGA-46-3765-01 COSM709298 c.2687C>G p.S896C Substitution - Missense 18:56757280-56757280 + TCGA-AP-A059-01 COSM989090 c.656G>T p.S219I Substitution - Missense 18:56686913-56686913 + TCGA-33-4583-01 COSM709305 c.1827T>C p.A609A Substitution - coding silent 18:56731435-56731435 + TCGA-AX-A0J0-01 COSM989085 c.82A>G p.T28A Substitution - Missense 18:56672597-56672597 + TCGA-DD-A73E-01 COSM4912990 c.796G>A p.V266I Substitution - Missense 18:56691294-56691294 + ESO-H01 COSM1270422 c.2195C>G p.S732C Substitution - Missense 18:56756788-56756788 + 40M COSM5586995 c.3559C>T p.P1187S Substitution - Missense 18:56923954-56923954 + tumor_4158726 COSM3357013 c.172G>C p.A58P Substitution - Missense 18:56679344-56679344 + BCM711T COSM4956078 c.1528G>A p.V510I Substitution - Missense 18:56696412-56696412 + TCGA-AP-A0LM-01 COSM989092 c.1012G>T p.E338* Substitution - Nonsense 18:56694664-56694664 + SNU-C4 COSM4652986 c.2227T>C p.F743L Substitution - Missense 18:56756820-56756820 + PT48 COSM5933753 c.4066T>C p.F1356L Substitution - Missense 18:56962431-56962431 + PD4087a COSM82445 c.3780G>A p.S1260S Substitution - coding silent 18:56935854-56935854 + ESCC-078T COSM3937768 c.2798G>A p.R933K Substitution - Missense 18:56758903-56758903 + TCGA-18-3409-01 COSM709299 c.2487C>T p.P829P Substitution - coding silent 18:56757080-56757080 + TCGA-Q1-A5R3-01 COSM4834004 c.3984T>A p.V1328V Substitution - coding silent 18:56939313-56939313 + BD177T COSM5517502 c.942C>T p.I314I Substitution - coding silent 18:56691793-56691793 + B89-16 COSM1750548 c.672A>G p.A224A Substitution - coding silent 18:56686929-56686929 + TCGA-AA-A010-01 COSM286518 c.99G>A p.T33T Substitution - coding silent 18:56672614-56672614 + TCGA-BR-4292-01 COSM4072680 c.2468G>A p.R823H Substitution - Missense 18:56757061-56757061 + BD116T COSM5490922 c.2022G>C p.L674L Substitution - coding silent 18:56756615-56756615 + 390 COSM4427817 c.2872C>T p.R958W Substitution - Missense 18:56776805-56776805 + TCGA-AY-6196-01 COSM1389205 c.2053G>A p.D685N Substitution - Missense 18:56756646-56756646 + Gp5D COSM2880331 c.1194T>C p.S398S Substitution - coding silent 18:56695035-56695035 + TCGA-BS-A0UF-01 COSM989102 c.2374G>T p.E792* Substitution - Nonsense 18:56756967-56756967 + 122T COSM1725569 c.1415A>T p.Y472F Substitution - Missense 18:56696299-56696299 + TCGA-D1-A103-01 COSM989110 c.4461C>T p.R1487R Substitution - coding silent 18:57027195-57027195 + TCGA-HC-7213-01 COSM3783155 c.3375C>A p.T1125T Substitution - coding silent 18:56880014-56880014 + S00539 COSM316549 c.773A>G p.Q258R Substitution - Missense 18:56691271-56691271 + YUMER COSM1711413 c.3590T>G p.I1197S Substitution - Missense 18:56923985-56923985 + SJHGG066_A COSM4971286 c.457_468del12 p.V153_I156delVSKI Deletion - In frame 18:56682790-56682801 + CLL078 COSM1290838 c.2974T>C p.C992R Substitution - Missense 18:56779457-56779457 + TCGA-B5-A11E-01 COSM989093 c.1055G>A p.R352K Substitution - Missense 18:56694707-56694707 + TCGA-AN-A046-01 COSM3821600 c.4296C>T p.I1432I Substitution - coding silent 18:57027030-57027030 + 76629543 COSM1582375 c.1274G>A p.R425H Substitution - Missense 18:56695115-56695115 + S01366 COSM316551 c.1374A>T p.R458S Substitution - Missense 18:56696258-56696258 + TCGA-AA-A010-01 COSM286520 c.1636A>C p.S546R Substitution - Missense 18:56718021-56718021 + sysucc-311T COSM989092 c.1012G>T p.E338* Substitution - Nonsense 18:56694664-56694664 + TCGA-F4-6856-01 COSM1389213 c.3793G>A p.A1265T Substitution - Missense 18:56935867-56935867 + ATL025 COSM5706772 c.4211C>T p.P1404L Substitution - Missense 18:57020791-57020791 + TCGA-HU-A4G8-01 COSM4072675 c.900G>A p.V300V Substitution - coding silent 18:56691751-56691751 + BCM711T COSM4956078 c.1528G>A p.V510I Substitution - Missense 18:56696412-56696412 + YUMOKI COSM5388277 c.3509C>T p.S1170L Substitution - Missense 18:56880148-56880148 + Pat_41_B COSM5854304 c.3107G>A p.R1036K Substitution - Missense 18:56781573-56781573 + BK0043 COSM4187585 c.1215A>T p.E405D Substitution - Missense 18:56695056-56695056 + TCGA-G4-6628-01 COSM1389209 c.3575C>A p.P1192H Substitution - Missense 18:56923970-56923970 + TCGA-34-5234-01 COSM709297 c.3840A>C p.R1280S Substitution - Missense 18:56938541-56938541 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.465213 18q21.31 613473

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I486L c.1456A>C 18 54363571 OV A C Missense p.R1280S c.3840A>C 18 54605772 LUSC A G IntronicSNV . c.3190+13179A>G 18 54462066 PIA A G Missense p.I1127V c.3379A>G 18 54547249 HNSC A G Missense p.I533V c.1597A>G 18 54385213 BRCA A G Missense p.Q118R c.353A>G 18 54349917 LUSC A G Missense p.Q258R c.773A>G 18 54358502 SCLC A G Missense p.R1120G c.3358A>G 18 54547228 CM A G Missense p.Y1447C c.4340A>G 18 54694305 SCLC A G Synonymous p.V833V c.2499A>G 18 54424323 RCCC A T Missense p.D539V c.1616A>T 18 54385232 BRCA A T Missense p.D685V c.2054A>T 18 54423878 LUSC A T Missense p.R1355W c.4063A>T 18 54606623 BRCA A T Missense p.R458S c.1374A>T 18 54363489 SCLC C A Missense p.A537D c.1610C>A 18 54385226 HC C A Missense p.P1055T c.3163C>A 18 54448860 ESCA C A Missense p.S896Y c.2687C>A 18 54424511 UCEC C A Synonymous p.R958R c.2872C>A 18 54444036 CM C A Synonymous p.V1061V c.3183C>A 18 54448880 HNSC CC TT Missense p.P778F c.2332_2333delinsTT 18 54424156 CM C G Missense p.A644G c.1931C>G 18 54398770 LUSC C G Missense p.A961G c.2882C>G 18 54444046 BRCA C G Missense p.I566M c.1698C>G 18 54385314 LUAD C G Missense p.I750M c.2250C>G 18 54424074 BRCA C G Missense p.S1116C c.3347C>G 18 54547217 BLCA C G Missense p.S732C c.2195C>G 18 54424019 ESCA C G Missense p.S896C c.2687C>G 18 54424511 LUSC C G Nonsense p.S1068* c.3203C>G 18 54483274 HNSC C G Synonymous p.A32A c.96C>G 18 54339842 HNSC C G Synonymous p.V266V c.798C>G 18 54358527 HNSC C T 3-UTRSNV . c.4470+249C>T 18 54694684 HC C T Missense p.A1124V c.3371C>T 18 54547241 UCEC C T Missense p.A1230V c.3689C>T 18 54591315 HNSC C T Missense p.A1232V c.3695C>T 18 54591321 LUAD C T Missense p.A644V c.1931C>T 18 54398770 LUAD C T Missense p.A871V c.2612C>T 18 54424436 HNSC C T Missense p.H457Y c.1369C>T 18 54363484 CM C T Missense p.L1346F c.4036C>T 18 54606596 CM C T Missense p.L807F c.2419C>T 18 54424243 COREAD C T Missense p.P1214L c.3641C>T 18 54591267 CM C T Missense p.P473S c.1417C>T 18 54363532 CM C T Missense p.P996L c.2987C>T 18 54446701 SCLC C T Missense p.P9S c.25C>T 18 54339771 LUSC C T Missense p.S229L c.686C>T 18 54354174 BRCA C T Missense p.S247F c.740C>T 18 54358469 CM C T Missense p.S493L c.1478C>T 18 54363593 LUAD C T Missense p.S708F c.2123C>T 18 54423947 LUSC C T Nonsense p.Q1440* c.4318C>T 18 54694283 HNSC C T Nonsense p.R15* c.43C>T 18 54339789 CM C T Nonsense p.R548* c.1642C>T 18 54385258 HNSC C T Synonymous p.A243A c.729C>T 18 54358458 LUAD C T Synonymous p.D40D c.120C>T 18 54339866 UCEC C T Synonymous p.F508F c.1524C>T 18 54363639 CM C T Synonymous p.H1060H c.3180C>T 18 54448877 UCEC C T Synonymous p.I138I c.414C>T 18 54349978 CM C T Synonymous p.L471L c.1411C>T 18 54363526 STAD C T Synonymous p.L674L c.2020C>T 18 54423844 HNSC C T Synonymous p.P1189P c.3567C>T 18 54591193 CM C T Synonymous p.S1360S c.4080C>T 18 54629676 STAD C T Synonymous p.S162S c.486C>T 18 54350050 BRCA C T Synonymous p.T919T c.2757C>T 18 54424581 CM C T Synonymous p.V954V c.2862C>T 18 54444026 CM G A IntronicSNV . c.3190+4136G>A 18 54453023 PIA G A Missense p.C131Y c.392G>A 18 54349956 STAD G A Missense p.D481N c.1441G>A 18 54363556 ESCA G A Missense p.D98N c.292G>A 18 54348569 BLCA G A Missense p.E612K c.1834G>A 18 54398673 BRCA G A Missense p.R15Q c.44G>A 18 54339790 CM G A Missense p.R548Q c.1643G>A 18 54385259 CM G A Missense p.R823H c.2468G>A 18 54424292 STAD G A Missense p.R884H c.2651G>A 18 54424475 STAD G A SpliceDonorSNV . c.863+1G>A 18 54358593 OV G A Synonymous p.A1033A c.3099G>A 18 54448796 BRCA G A Synonymous p.A1455A c.4365G>A 18 54694330 CM G A Synonymous p.A1455A c.4365G>A 18 54694330 GBM G A Synonymous p.L1204L c.3612G>A 18 54591238 PRAD G A Synonymous p.Q1291Q c.3873G>A 18 54605805 ESCA G A Synonymous p.S1260S c.3780G>A 18 54603085 BRCA G A Synonymous p.S1260S c.3780G>A 18 54603085 OV G A Synonymous p.S834S c.2502G>A 18 54424326 LGG G A Synonymous p.T633T c.1899G>A 18 54398738 LUAD G C Missense p.A58P c.172G>C 18 54346575 DLBCL G C Missense p.D760H c.2278G>C 18 54424102 HNSC G C Missense p.E1233Q c.3697G>C 18 54591323 LUAD G C Missense p.E659Q c.1975G>C 18 54398814 LUSC G C Missense p.E752Q c.2254G>C 18 54424078 LUSC G C Missense p.V1132L c.3394G>C 18 54547264 LUAD G C Synonymous p.G31G c.93G>C 18 54339839 LUAD G T Missense p.A1455S c.4363G>T 18 54694328 LUAD G T Missense p.D817Y c.2449G>T 18 54424273 HNSC G T Missense p.G1458C c.4372G>T 18 54694337 LUAD G T Missense p.G1483W c.4447G>T 18 54694412 LUAD G T Missense p.G262W c.784G>T 18 54358513 STAD G T Missense p.G983C c.2947G>T 18 54444111 LUAD G T Missense p.S1246I c.3737G>T 18 54603042 SCLC G T Missense p.S5I c.14G>T 18 54339760 STAD G T Missense p.V1278L c.3832G>T 18 54605764 LUAD G T Missense p.V399L c.1195G>T 18 54362267 BRCA G T Missense p.W810L c.2429G>T 18 54424253 LUAD G T Nonsense p.G133* c.397G>T 18 54349961 CM G T Synonymous p.G600G c.1800G>T 18 54398639 LUAD G T Synonymous p.S181S c.543G>T 18 54353209 SCLC T C IntronicSNV . c.3304+12395T>C 18 54495770 CLL T C Missense p.C992R c.2974T>C 18 54446688 CLL T C Missense p.L1222P c.3665T>C 18 54591291 STAD T C Missense p.V833A c.2498T>C 18 54424322 CM T C SpliceDonorSNV . c.3831+2T>C 18 54603138 THCA T C Synonymous p.A609A c.1827T>C 18 54398666 LUSC T C Synonymous p.L987L c.2959T>C 18 54446673 LUAD T C Synonymous p.P1078P c.3234T>C 18 54483305 STAD - T Frameshift p.L248Ffs*7 c.743dupT 18 54358471 LUAD