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 BLCA 18 45555753 45555753 + Missense_Mutation SNP C C T TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr18:45555753C>T c.1738G>A c.(1738-1740)Gag>Aag p.E580K BLCA 18 45556217 45556217 + Missense_Mutation SNP C C A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 g.chr18:45556217C>A c.1274G>T c.(1273-1275)tGc>tTc p.C425F BLCA 18 45556270 45556270 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr18:45556270C>T c.1221G>A c.(1219-1221)ctG>ctA p.L407L BLCA 18 45566363 45566363 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr18:45566363G>A c.1116C>T c.(1114-1116)gtC>gtT p.V372V BLCA 18 45566389 45566389 + Nonsense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr18:45566389G>A c.1090C>T c.(1090-1092)Cag>Tag p.Q364* BLCA 18 45567023 45567023 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr18:45567023C>G c.456G>C c.(454-456)gaG>gaC p.E152D BRCA 18 45566387 45566388 + Missense_Mutation DNP CT CT TG TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 g.chr18:45566387_45566388CT>TG c.1091_1092AG>CA c.(1090-1092)cAG>cCA p.Q364P BRCA 18 45566518 45566519 + Frame_Shift_Ins INS - - C TCGA-A2-A0CZ-01A-11W-A050-09 TCGA-A2-A0CZ-10A-01W-A055-09 g.chr18:45566518_45566519insC c.960_961insG c.(958-963)gggcctfs p.P321fs BRCA 18 45566518 45566519 + Frame_Shift_Ins INS - - C TCGA-AN-A0FW-01A-11W-A050-09 TCGA-AN-A0FW-10A-01W-A055-09 g.chr18:45566518_45566519insC c.960_961insG c.(958-963)gggcctfs p.P321fs BRCA 18 45567085 45567085 + Frame_Shift_Del DEL C C - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr18:45567085delC c.394delG c.(394-396)gacfs p.D132fs BRCA 18 45567396 45567396 + Missense_Mutation SNP C C T TCGA-GM-A3XN-01A-12D-A22X-09 TCGA-GM-A3XN-10A-01D-A22X-09 g.chr18:45567396C>T c.83G>A c.(82-84)cGg>cAg p.R28Q CESC 18 45555962 45555962 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 g.chr18:45555962G>A c.1529C>T c.(1528-1530)gCg>gTg p.A510V CESC 18 45567016 45567016 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr18:45567016C>T c.463G>A c.(463-465)Gag>Aag p.E155K COAD 18 45556065 45556065 + Missense_Mutation SNP G G A TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr18:45556065G>A c.1426C>T c.(1426-1428)Cgg>Tgg p.R476W COAD 18 45556141 45556141 + Silent SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr18:45556141G>A c.1350C>T c.(1348-1350)tgC>tgT p.C450C COAD 18 45556212 45556212 + Missense_Mutation SNP C C T TCGA-AA-3872-01A-01W-0995-10 TCGA-AA-3872-10A-01W-0995-10 g.chr18:45556212C>T c.1279G>A c.(1279-1281)Gcc>Acc p.A427T COAD 18 45566339 45566339 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr18:45566339C>T c.1140G>A c.(1138-1140)ccG>ccA p.P380P COAD 18 45566526 45566526 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr18:45566526G>A c.953C>T c.(952-954)cCg>cTg p.P318L COAD 18 45566605 45566605 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr18:45566605C>T c.874G>A c.(874-876)Gag>Aag p.E292K COAD 18 45566672 45566672 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr18:45566672C>T c.807G>A c.(805-807)caG>caA p.Q269Q COAD 18 45566674 45566674 + Nonsense_Mutation SNP G G A TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chr18:45566674G>A c.805C>T c.(805-807)Cag>Tag p.Q269* COAD 18 45566725 45566725 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr18:45566725C>T c.754G>A c.(754-756)Gcc>Acc p.A252T COAD 18 45567002 45567003 + In_Frame_Ins INS - - TCC TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr18:45567002_45567003insTCC c.476_477insGGA c.(475-477)gaa>gaGGAa p.159_159E>EE COAD 18 45567019 45567019 + Missense_Mutation SNP C C T TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr18:45567019C>T c.460G>A c.(460-462)Gaa>Aaa p.E154K COAD 18 45567044 45567044 + Silent SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr18:45567044G>A c.435C>T c.(433-435)gaC>gaT p.D145D COAD 18 45567053 45567053 + Silent SNP A A G TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr18:45567053A>G c.426T>C c.(424-426)gaT>gaC p.D142D COAD 18 45567076 45567076 + Frame_Shift_Del DEL C C - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr18:45567076delC c.403delG c.(403-405)gagfs p.E136fs COAD 18 45567085 45567085 + Frame_Shift_Del DEL C C - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr18:45567085delC c.394delG c.(394-396)gacfs p.D132fs COAD 18 45567085 45567085 + Frame_Shift_Del DEL C C - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr18:45567085delC c.394delG c.(394-396)gacfs p.D132fs COAD 18 45567085 45567085 + Frame_Shift_Del DEL C C - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr18:45567085delC c.394delG c.(394-396)gacfs p.D132fs COAD 18 45567213 45567213 + Missense_Mutation SNP A A G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr18:45567213A>G c.266T>C c.(265-267)cTg>cCg p.L89P COAD 18 45567397 45567397 + Missense_Mutation SNP G G A TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr18:45567397G>A c.82C>T c.(82-84)Cgg>Tgg p.R28W COADREAD 18 45556065 45556065 + Missense_Mutation SNP G G A TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr18:45556065G>A c.1426C>T c.(1426-1428)Cgg>Tgg p.R476W COADREAD 18 45556141 45556141 + Silent SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr18:45556141G>A c.1350C>T c.(1348-1350)tgC>tgT p.C450C COADREAD 18 45556212 45556212 + Missense_Mutation SNP C C T TCGA-AA-3872-01A-01W-0995-10 TCGA-AA-3872-10A-01W-0995-10 g.chr18:45556212C>T c.1279G>A c.(1279-1281)Gcc>Acc p.A427T COADREAD 18 45566339 45566339 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr18:45566339C>T c.1140G>A c.(1138-1140)ccG>ccA p.P380P COADREAD 18 45566526 45566526 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr18:45566526G>A c.953C>T c.(952-954)cCg>cTg p.P318L COADREAD 18 45566605 45566605 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr18:45566605C>T c.874G>A c.(874-876)Gag>Aag p.E292K COADREAD 18 45566672 45566672 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr18:45566672C>T c.807G>A c.(805-807)caG>caA p.Q269Q COADREAD 18 45566674 45566674 + Nonsense_Mutation SNP G G A TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chr18:45566674G>A c.805C>T c.(805-807)Cag>Tag p.Q269* COADREAD 18 45566725 45566725 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr18:45566725C>T c.754G>A c.(754-756)Gcc>Acc p.A252T COADREAD 18 45567002 45567003 + In_Frame_Ins INS - - TCC TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr18:45567002_45567003insTCC c.476_477insGGA c.(475-477)gaa>gaGGAa p.159_159E>EE COADREAD 18 45567019 45567019 + Missense_Mutation SNP C C T TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr18:45567019C>T c.460G>A c.(460-462)Gaa>Aaa p.E154K COADREAD 18 45567044 45567044 + Silent SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr18:45567044G>A c.435C>T c.(433-435)gaC>gaT p.D145D COADREAD 18 45567053 45567053 + Silent SNP A A G TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr18:45567053A>G c.426T>C c.(424-426)gaT>gaC p.D142D COADREAD 18 45567076 45567076 + Frame_Shift_Del DEL C C - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr18:45567076delC c.403delG c.(403-405)gagfs p.E136fs COADREAD 18 45567085 45567085 + Frame_Shift_Del DEL C C - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr18:45567085delC c.394delG c.(394-396)gacfs p.D132fs COADREAD 18 45567085 45567085 + Frame_Shift_Del DEL C C - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr18:45567085delC c.394delG c.(394-396)gacfs p.D132fs COADREAD 18 45567085 45567085 + Frame_Shift_Del DEL C C - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr18:45567085delC c.394delG c.(394-396)gacfs p.D132fs COADREAD 18 45567213 45567213 + Missense_Mutation SNP A A G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr18:45567213A>G c.266T>C c.(265-267)cTg>cCg p.L89P COADREAD 18 45567259 45567259 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:45567259C>T c.220G>A c.(220-222)Gtc>Atc p.V74I COADREAD 18 45567397 45567397 + Missense_Mutation SNP G G A TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr18:45567397G>A c.82C>T c.(82-84)Cgg>Tgg p.R28W DLBC 18 45566798 45566798 + Silent SNP G G A TCGA-FF-8046-01A-11D-2210-10 TCGA-FF-8046-10A-01D-2210-10 g.chr18:45566798G>A c.681C>T c.(679-681)atC>atT p.I227I DLBC 18 45566903 45566903 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr18:45566903T>C c.576A>G c.(574-576)acA>acG p.T192T GBM 18 45566526 45566526 + Missense_Mutation SNP G G A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 g.chr18:45566526G>A c.953C>T c.(952-954)cCg>cTg p.P318L GBM 18 45567452 45567452 + Silent SNP A A G TCGA-06-0185-01A-01W-0254-08 TCGA-06-0185-10B-01W-0254-08 g.chr18:45567452A>G c.27T>C c.(25-27)atT>atC p.I9I GBMLGG 18 45556204 45556204 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:45556204G>A c.1287C>T c.(1285-1287)ttC>ttT p.F429F GBMLGG 18 45566387 45566387 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:45566387C>T c.1092G>A c.(1090-1092)caG>caA p.Q364Q GBMLGG 18 45566526 45566526 + Missense_Mutation SNP G G A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 g.chr18:45566526G>A c.953C>T c.(952-954)cCg>cTg p.P318L GBMLGG 18 45566687 45566687 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:45566687G>A c.792C>T c.(790-792)ttC>ttT p.F264F GBMLGG 18 45567396 45567396 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:45567396C>T c.83G>A c.(82-84)cGg>cAg p.R28Q GBMLGG 18 45567452 45567452 + Silent SNP A A G TCGA-06-0185-01A-01W-0254-08 TCGA-06-0185-10B-01W-0254-08 g.chr18:45567452A>G c.27T>C c.(25-27)atT>atC p.I9I HNSC 18 45566424 45566424 + Missense_Mutation SNP A A G TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr18:45566424A>G c.1055T>C c.(1054-1056)cTg>cCg p.L352P HNSC 18 45566526 45566526 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 g.chr18:45566526G>A c.953C>T c.(952-954)cCg>cTg p.P318L HNSC 18 45567085 45567085 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr18:45567085delC c.394delG c.(394-396)gacfs p.D132fs KICH 18 45555829 45555829 + Silent SNP T T C TCGA-KN-8424-01A-11D-2310-10 TCGA-KN-8424-11A-01D-2310-10 g.chr18:45555829T>C c.1662A>G c.(1660-1662)acA>acG p.T554T KICH 18 45567082 45567082 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr18:45567082C>T c.397G>A c.(397-399)Ggg>Agg p.G133R KIPAN 18 45555829 45555829 + Silent SNP T T C TCGA-KN-8424-01A-11D-2310-10 TCGA-KN-8424-11A-01D-2310-10 g.chr18:45555829T>C c.1662A>G c.(1660-1662)acA>acG p.T554T KIPAN 18 45567044 45567044 + Silent SNP G G A TCGA-CZ-5467-01A-01D-1501-10 TCGA-CZ-5467-11A-01D-1501-10 g.chr18:45567044G>A c.435C>T c.(433-435)gaC>gaT p.D145D KIPAN 18 45567082 45567082 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr18:45567082C>T c.397G>A c.(397-399)Ggg>Agg p.G133R KIRC 18 45567044 45567044 + Silent SNP G G A TCGA-CZ-5467-01A-01D-1501-10 TCGA-CZ-5467-11A-01D-1501-10 g.chr18:45567044G>A c.435C>T c.(433-435)gaC>gaT p.D145D LGG 18 45556204 45556204 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:45556204G>A c.1287C>T c.(1285-1287)ttC>ttT p.F429F LGG 18 45566387 45566387 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:45566387C>T c.1092G>A c.(1090-1092)caG>caA p.Q364Q LGG 18 45566687 45566687 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:45566687G>A c.792C>T c.(790-792)ttC>ttT p.F264F LGG 18 45567396 45567396 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:45567396C>T c.83G>A c.(82-84)cGg>cAg p.R28Q LIHC 18 45555810 45555810 + Missense_Mutation SNP G G A TCGA-2Y-A9GS-01A-12D-A382-10 TCGA-2Y-A9GS-10A-01D-A385-10 g.chr18:45555810G>A c.1681C>T c.(1681-1683)Cgc>Tgc p.R561C LIHC 18 45555810 45555810 + Missense_Mutation SNP G G A TCGA-DD-A11C-01A-11D-A12Z-10 TCGA-DD-A11C-11A-11D-A12Z-10 g.chr18:45555810G>A c.1681C>T c.(1681-1683)Cgc>Tgc p.R561C LIHC 18 45566490 45566490 + Missense_Mutation SNP T T G TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr18:45566490T>G c.989A>C c.(988-990)gAc>gCc p.D330A LIHC 18 45566520 45566520 + Missense_Mutation SNP C C A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr18:45566520C>A c.959G>T c.(958-960)gGg>gTg p.G320V LIHC 18 45566767 45566767 + Nonsense_Mutation SNP T T A TCGA-DD-AACL-01A-11D-A40R-10 TCGA-DD-AACL-10A-01D-A40U-10 g.chr18:45566767T>A c.712A>T c.(712-714)Aag>Tag p.K238* LIHC 18 45567333 45567333 + Missense_Mutation SNP C C T TCGA-DD-AA3A-01A-11D-A36X-10 TCGA-DD-AA3A-10A-01D-A370-10 g.chr18:45567333C>T c.146G>A c.(145-147)cGc>cAc p.R49H LUAD 18 45555813 45555813 + Missense_Mutation SNP C C A TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr18:45555813C>A c.1678G>T c.(1678-1680)Ggg>Tgg p.G560W LUAD 18 45555913 45555913 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr18:45555913C>A c.1578G>T c.(1576-1578)ccG>ccT p.P526P LUAD 18 45566337 45566337 + Missense_Mutation SNP C C A TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr18:45566337C>A c.1142G>T c.(1141-1143)cGg>cTg p.R381L LUAD 18 45566354 45566354 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 g.chr18:45566354C>A c.1125G>T c.(1123-1125)ggG>ggT p.G375G LUAD 18 45567211 45567211 + Missense_Mutation SNP C C G TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr18:45567211C>G c.268G>C c.(268-270)Gag>Cag p.E90Q OV 18 45567396 45567396 + Missense_Mutation SNP C C T TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 g.chr18:45567396C>T c.83G>A c.(82-84)cGg>cAg p.R28Q PRAD 18 45566931 45566931 + Missense_Mutation SNP A A C TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 g.chr18:45566931A>C c.548T>G c.(547-549)aTc>aGc p.I183S PRAD 18 45567115 45567115 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr18:45567115C>T c.364G>A c.(364-366)Gtg>Atg p.V122M READ 18 45567259 45567259 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:45567259C>T c.220G>A c.(220-222)Gtc>Atc p.V74I SARC 18 45566623 45566623 + Missense_Mutation SNP T T C TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 g.chr18:45566623T>C c.856A>G c.(856-858)Aat>Gat p.N286D SKCM 18 45555638 45555638 + Missense_Mutation SNP T T C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 g.chr18:45555638T>C c.1853A>G c.(1852-1854)aAc>aGc p.N618S SKCM 18 45555705 45555705 + Frame_Shift_Del DEL C C - TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr18:45555705delC c.1786delG c.(1786-1788)gccfs p.A597fs SKCM 18 45555767 45555767 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr18:45555767G>A c.1724C>T c.(1723-1725)gCc>gTc p.A575V SKCM 18 45555787 45555787 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:45555787C>T c.1704G>A c.(1702-1704)agG>agA p.R568R SKCM 18 45555814 45555814 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr18:45555814G>A c.1677C>T c.(1675-1677)ttC>ttT p.F559F SKCM 18 45555832 45555832 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr18:45555832C>T c.1659G>A c.(1657-1659)gaG>gaA p.E553E SKCM 18 45555835 45555835 + Silent SNP C C T TCGA-EE-A29H-06A-12D-A197-08 TCGA-EE-A29H-10A-01D-A199-08 g.chr18:45555835C>T c.1656G>A c.(1654-1656)gaG>gaA p.E552E SKCM 18 45556063 45556063 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr18:45556063C>T c.1428G>A c.(1426-1428)cgG>cgA p.R476R SKCM 18 45556191 45556191 + Missense_Mutation SNP C C T TCGA-EE-A185-06A-11D-A196-08 TCGA-EE-A185-10A-01D-A198-08 g.chr18:45556191C>T c.1300G>A c.(1300-1302)Gac>Aac p.D434N SKCM 18 45556204 45556204 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:45556204G>A c.1287C>T c.(1285-1287)ttC>ttT p.F429F SKCM 18 45556242 45556242 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 g.chr18:45556242C>T c.1249G>A c.(1249-1251)Gag>Aag p.E417K SKCM 18 45566348 45566348 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:45566348C>T c.1131G>A c.(1129-1131)ggG>ggA p.G377G SKCM 18 45566434 45566434 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr18:45566434G>A c.1045C>T c.(1045-1047)Ccc>Tcc p.P349S SKCM 18 45566491 45566491 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:45566491C>T c.988G>A c.(988-990)Gac>Aac p.D330N SKCM 18 45566511 45566511 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:45566511C>T c.968G>A c.(967-969)gGa>gAa p.G323E SKCM 18 45566546 45566546 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr18:45566546C>T c.933G>A c.(931-933)aaG>aaA p.K311K SKCM 18 45566602 45566602 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr18:45566602C>T c.877G>A c.(877-879)Gag>Aag p.E293K SKCM 18 45566609 45566609 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr18:45566609C>T c.870G>A c.(868-870)aaG>aaA p.K290K SKCM 18 45566726 45566726 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr18:45566726G>A c.753C>T c.(751-753)ttC>ttT p.F251F SKCM 18 45566737 45566737 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr18:45566737A>G c.742T>C c.(742-744)Ttg>Ctg p.L248L SKCM 18 45566752 45566752 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr18:45566752C>T c.727G>A c.(727-729)Gac>Aac p.D243N SKCM 18 45566762 45566762 + Silent SNP G G A TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr18:45566762G>A c.717C>T c.(715-717)gcC>gcT p.A239A SKCM 18 45566849 45566849 + Silent SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr18:45566849G>A c.630C>T c.(628-630)tcC>tcT p.S210S SKCM 18 45566986 45566986 + Missense_Mutation SNP C C T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chr18:45566986C>T c.493G>A c.(493-495)Gat>Aat p.D165N SKCM 18 45567061 45567061 + Missense_Mutation SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr18:45567061C>T c.418G>A c.(418-420)Gag>Aag p.E140K SKCM 18 45567077 45567077 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr18:45567077C>T c.402G>A c.(400-402)ggG>ggA p.G134G SKCM 18 45567078 45567078 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr18:45567078C>T c.401G>A c.(400-402)gGg>gAg p.G134E SKCM 18 45567095 45567095 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr18:45567095C>T c.384G>A c.(382-384)gaG>gaA p.E128E SKCM 18 45567101 45567101 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr18:45567101G>A c.378C>T c.(376-378)atC>atT p.I126I SKCM 18 45567106 45567106 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:45567106C>T c.373G>A c.(373-375)Gag>Aag p.E125K SKCM 18 45567206 45567206 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:45567206G>A c.273C>T c.(271-273)ttC>ttT p.F91F SKCM 18 45567248 45567248 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr18:45567248G>A c.231C>T c.(229-231)atC>atT p.I77I SKCM 18 45567248 45567248 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr18:45567248G>A c.231C>T c.(229-231)atC>atT p.I77I SKCM 18 45567266 45567266 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr18:45567266C>T c.213G>A c.(211-213)caG>caA p.Q71Q SKCM 18 45567330 45567330 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr18:45567330G>A c.149C>T c.(148-150)tCc>tTc p.S50F SKCM 18 45567438 45567438 + Missense_Mutation SNP G G A TCGA-RP-A694-06A-11D-A30X-08 TCGA-RP-A694-10A-01D-A30X-08 g.chr18:45567438G>A c.41C>T c.(40-42)cCc>cTc p.P14L

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 45567349 45567349 single base substitution C G downstream_gene_variant BLCA-CN 18 45567349 45567349 single base substitution C G missense_variant E44Q 130G>C BLCA-US 18 45556270 45556270 single base substitution C T synonymous_variant L407L 1221G>A BLCA-US 18 45567023 45567023 single base substitution C G downstream_gene_variant BLCA-US 18 45567023 45567023 single base substitution C G missense_variant E152D 456G>C BOCA-FR 18 45866210 45866210 single base substitution T G intron_variant BOCA-FR 18 45866210 45866210 single base substitution T G upstream_gene_variant BOCA-FR 18 45871761 45871761 single base substitution C G intron_variant BOCA-FR 18 45875968 45875968 single base substitution T C intron_variant BOCA-FR 18 45881811 45881811 single base substitution G A intron_variant BOCA-FR 18 45927274 45927274 single base substitution G C intron_variant BRCA-EU 18 45549621 45549621 single base substitution C G downstream_gene_variant BRCA-EU 18 45549808 45549808 single base substitution G A downstream_gene_variant BRCA-EU 18 45549847 45549860 deletion of <=200bp TGAGTGTGTGTGTG - downstream_gene_variant BRCA-EU 18 45550039 45550039 single base substitution G T downstream_gene_variant BRCA-EU 18 45550297 45550297 single base substitution C G downstream_gene_variant BRCA-EU 18 45550721 45550733 deletion of <=200bp AGGGCACCCGGCT - downstream_gene_variant BRCA-EU 18 45551218 45551218 insertion of <=200bp - T downstream_gene_variant BRCA-EU 18 45551298 45551298 single base substitution C G downstream_gene_variant BRCA-EU 18 45554043 45554043 single base substitution C T 3_prime_UTR_variant BRCA-EU 18 45554545 45554545 single base substitution G C 3_prime_UTR_variant BRCA-EU 18 45555466 45555466 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 45555492 45555492 single base substitution C T 3_prime_UTR_variant BRCA-EU 18 45555913 45555913 single base substitution C T synonymous_variant P526P 1578G>A BRCA-EU 18 45555965 45555965 deletion of <=200bp G - frameshift_variant P509 BRCA-EU 18 45557470 45557470 single base substitution C G intron_variant BRCA-EU 18 45557568 45557568 single base substitution C T intron_variant BRCA-EU 18 45567914 45567914 single base substitution G A intron_variant BRCA-EU 18 45567914 45567914 single base substitution G A upstream_gene_variant BRCA-EU 18 45570421 45570421 single base substitution G A intron_variant BRCA-EU 18 45570421 45570421 single base substitution G A upstream_gene_variant BRCA-EU 18 45571925 45571925 single base substitution T G intron_variant BRCA-EU 18 45571925 45571925 single base substitution T G upstream_gene_variant BRCA-EU 18 45572141 45572141 single base substitution C A intron_variant BRCA-EU 18 45572141 45572141 single base substitution C A upstream_gene_variant BRCA-EU 18 45573459 45573459 single base substitution G T intron_variant BRCA-EU 18 45573709 45573710 deletion of <=200bp CA - intron_variant BRCA-EU 18 45576325 45576325 single base substitution C G intron_variant BRCA-EU 18 45578720 45578720 single base substitution G C intron_variant BRCA-EU 18 45578878 45578878 single base substitution T C intron_variant BRCA-EU 18 45579614 45579614 single base substitution G A intron_variant BRCA-EU 18 45579993 45579993 single base substitution G A intron_variant BRCA-EU 18 45581311 45581311 single base substitution C T intron_variant BRCA-EU 18 45581608 45581608 single base substitution C G intron_variant BRCA-EU 18 45582013 45582013 single base substitution T G intron_variant BRCA-EU 18 45583497 45583497 single base substitution A G intron_variant BRCA-EU 18 45584856 45584856 single base substitution G C intron_variant BRCA-EU 18 45586415 45586415 single base substitution G A intron_variant BRCA-EU 18 45587711 45587711 single base substitution G A intron_variant BRCA-EU 18 45587993 45587993 single base substitution T C intron_variant BRCA-EU 18 45588368 45588369 deletion of <=200bp CA - intron_variant BRCA-EU 18 45588756 45588756 single base substitution C T intron_variant BRCA-EU 18 45588926 45588926 single base substitution G C intron_variant BRCA-EU 18 45589639 45589639 single base substitution G A intron_variant BRCA-EU 18 45589901 45589901 single base substitution G C intron_variant BRCA-EU 18 45592235 45592235 single base substitution G A intron_variant BRCA-EU 18 45596747 45596747 single base substitution G T intron_variant BRCA-EU 18 45597569 45597569 single base substitution A C intron_variant BRCA-EU 18 45597581 45597581 single base substitution G C intron_variant BRCA-EU 18 45598773 45598773 single base substitution C T intron_variant BRCA-EU 18 45599359 45599359 single base substitution A G intron_variant BRCA-EU 18 45599612 45599612 single base substitution G A intron_variant BRCA-EU 18 45599677 45599677 single base substitution A T intron_variant BRCA-EU 18 45599957 45599957 single base substitution G C intron_variant BRCA-EU 18 45601365 45601365 single base substitution G A intron_variant BRCA-EU 18 45602126 45602126 single base substitution G T intron_variant BRCA-EU 18 45602559 45602559 single base substitution T C intron_variant BRCA-EU 18 45603049 45603049 single base substitution G T intron_variant BRCA-EU 18 45603627 45603627 single base substitution T C intron_variant BRCA-EU 18 45604760 45604760 single base substitution C G intron_variant BRCA-EU 18 45604869 45604869 single base substitution G C intron_variant BRCA-EU 18 45609145 45609145 single base substitution G A intron_variant BRCA-EU 18 45609531 45609531 single base substitution C T intron_variant BRCA-EU 18 45609767 45609768 deletion of <=200bp TC - intron_variant BRCA-EU 18 45610106 45610106 single base substitution G C intron_variant BRCA-EU 18 45610308 45610308 single base substitution C G intron_variant BRCA-EU 18 45612348 45612348 single base substitution C G intron_variant BRCA-EU 18 45612659 45612659 single base substitution T C intron_variant BRCA-EU 18 45615669 45615669 single base substitution G A intron_variant BRCA-EU 18 45616479 45616479 single base substitution G A intron_variant BRCA-EU 18 45617461 45617461 single base substitution A T intron_variant BRCA-EU 18 45618447 45618447 single base substitution G C intron_variant BRCA-EU 18 45620796 45620796 single base substitution G A intron_variant BRCA-EU 18 45620987 45620987 deletion of <=200bp T - intron_variant BRCA-EU 18 45621878 45621878 single base substitution T A intron_variant BRCA-EU 18 45622437 45622437 single base substitution G A intron_variant BRCA-EU 18 45622975 45622975 single base substitution C A intron_variant BRCA-EU 18 45623019 45623019 single base substitution G A intron_variant BRCA-EU 18 45627142 45627142 single base substitution G A intron_variant BRCA-EU 18 45627597 45627597 single base substitution G A intron_variant BRCA-EU 18 45627832 45627832 single base substitution G C intron_variant BRCA-EU 18 45628617 45628617 single base substitution C A intron_variant BRCA-EU 18 45630073 45630073 single base substitution G A intron_variant BRCA-EU 18 45631839 45631839 single base substitution C T intron_variant BRCA-EU 18 45632606 45632606 single base substitution C G intron_variant BRCA-EU 18 45633525 45633525 single base substitution G C intron_variant BRCA-EU 18 45634441 45634441 single base substitution C T intron_variant BRCA-EU 18 45634753 45634753 single base substitution G T intron_variant BRCA-EU 18 45634834 45634834 single base substitution C T intron_variant BRCA-EU 18 45636976 45636976 single base substitution T A intron_variant BRCA-EU 18 45638180 45638180 deletion of <=200bp A - intron_variant BRCA-EU 18 45638455 45638455 single base substitution A G intron_variant BRCA-EU 18 45639440 45639440 single base substitution G T intron_variant BRCA-EU 18 45640940 45640940 single base substitution C G intron_variant BRCA-EU 18 45641218 45641218 single base substitution C T intron_variant BRCA-EU 18 45641386 45641386 single base substitution C G intron_variant BRCA-EU 18 45642775 45642775 single base substitution C A intron_variant BRCA-EU 18 45645380 45645380 single base substitution A C intron_variant BRCA-EU 18 45645386 45645386 deletion of <=200bp T - intron_variant BRCA-EU 18 45645906 45645906 single base substitution A G intron_variant BRCA-EU 18 45647785 45647785 deletion of <=200bp A - intron_variant BRCA-EU 18 45647785 45647785 single base substitution A T intron_variant BRCA-EU 18 45647888 45647888 single base substitution C T intron_variant BRCA-EU 18 45647964 45647964 single base substitution C T intron_variant BRCA-EU 18 45648009 45648009 single base substitution G A intron_variant BRCA-EU 18 45651614 45651614 single base substitution G A intron_variant BRCA-EU 18 45652238 45652238 single base substitution T C intron_variant BRCA-EU 18 45654394 45654394 single base substitution C T intron_variant BRCA-EU 18 45656639 45656639 single base substitution T G intron_variant BRCA-EU 18 45658953 45658953 single base substitution C T intron_variant BRCA-EU 18 45659268 45659268 single base substitution T G intron_variant BRCA-EU 18 45661635 45661635 single base substitution G A intron_variant BRCA-EU 18 45663246 45663246 single base substitution G T intron_variant BRCA-EU 18 45665733 45665733 single base substitution C G intron_variant BRCA-EU 18 45665733 45665733 single base substitution C G upstream_gene_variant BRCA-EU 18 45666478 45666478 single base substitution G C intron_variant BRCA-EU 18 45666478 45666478 single base substitution G C upstream_gene_variant BRCA-EU 18 45667524 45667524 single base substitution C G intron_variant BRCA-EU 18 45667524 45667524 single base substitution C G upstream_gene_variant BRCA-EU 18 45668123 45668123 single base substitution G C intron_variant BRCA-EU 18 45668123 45668123 single base substitution G C upstream_gene_variant BRCA-EU 18 45669075 45669075 single base substitution G C intron_variant BRCA-EU 18 45669398 45669398 single base substitution A G intron_variant BRCA-EU 18 45672243 45672243 single base substitution A C intron_variant BRCA-EU 18 45673206 45673206 single base substitution T G intron_variant BRCA-EU 18 45673818 45673818 single base substitution G C intron_variant BRCA-EU 18 45675137 45675137 single base substitution A T intron_variant BRCA-EU 18 45678471 45678471 single base substitution C T intron_variant BRCA-EU 18 45679070 45679070 single base substitution T A intron_variant BRCA-EU 18 45679362 45679362 single base substitution C G intron_variant BRCA-EU 18 45679698 45679698 single base substitution G A intron_variant BRCA-EU 18 45679976 45679976 single base substitution C G intron_variant BRCA-EU 18 45682097 45682097 single base substitution G C intron_variant BRCA-EU 18 45683151 45683151 single base substitution G A intron_variant BRCA-EU 18 45683338 45683338 single base substitution A T intron_variant BRCA-EU 18 45685325 45685325 single base substitution G A intron_variant BRCA-EU 18 45685388 45685388 single base substitution C G intron_variant BRCA-EU 18 45685418 45685418 single base substitution G C intron_variant BRCA-EU 18 45685945 45685945 single base substitution G A intron_variant BRCA-EU 18 45687453 45687453 single base substitution G A intron_variant BRCA-EU 18 45688685 45688685 single base substitution G A intron_variant BRCA-EU 18 45690052 45690052 single base substitution G C intron_variant BRCA-EU 18 45691546 45691546 single base substitution G A 5_prime_UTR_variant BRCA-EU 18 45691546 45691546 single base substitution G A intron_variant BRCA-EU 18 45691749 45691749 single base substitution G T 5_prime_UTR_variant BRCA-EU 18 45691749 45691749 single base substitution G T intron_variant BRCA-EU 18 45691749 45691749 single base substitution G T upstream_gene_variant BRCA-EU 18 45692207 45692207 single base substitution C G intron_variant BRCA-EU 18 45692207 45692207 single base substitution C G upstream_gene_variant BRCA-EU 18 45692600 45692600 single base substitution C T intron_variant BRCA-EU 18 45692600 45692600 single base substitution C T upstream_gene_variant BRCA-EU 18 45694301 45694301 single base substitution C T intron_variant BRCA-EU 18 45694301 45694301 single base substitution C T upstream_gene_variant BRCA-EU 18 45695918 45695918 single base substitution C A intron_variant BRCA-EU 18 45695918 45695918 single base substitution C A upstream_gene_variant BRCA-EU 18 45698778 45698778 single base substitution C T intron_variant BRCA-EU 18 45700074 45700074 single base substitution A T intron_variant BRCA-EU 18 45701382 45701382 single base substitution C A intron_variant BRCA-EU 18 45701515 45701515 deletion of <=200bp A - intron_variant BRCA-EU 18 45702347 45702347 single base substitution C T intron_variant BRCA-EU 18 45706078 45706078 single base substitution G C intron_variant BRCA-EU 18 45707482 45707482 single base substitution T C intron_variant BRCA-EU 18 45708708 45708708 single base substitution C G intron_variant BRCA-EU 18 45709531 45709531 single base substitution C A intron_variant BRCA-EU 18 45710069 45710069 single base substitution A G intron_variant BRCA-EU 18 45710582 45710582 single base substitution G T intron_variant BRCA-EU 18 45710836 45710836 single base substitution G A intron_variant BRCA-EU 18 45711360 45711360 single base substitution C G intron_variant BRCA-EU 18 45711561 45711561 single base substitution C A intron_variant BRCA-EU 18 45714255 45714255 single base substitution G A intron_variant BRCA-EU 18 45714696 45714696 single base substitution G C intron_variant BRCA-EU 18 45715127 45715127 single base substitution C T intron_variant BRCA-EU 18 45715362 45715362 single base substitution C T intron_variant BRCA-EU 18 45717409 45717409 single base substitution C G intron_variant BRCA-EU 18 45718639 45718639 single base substitution G A intron_variant BRCA-EU 18 45719845 45719845 deletion of <=200bp A - intron_variant BRCA-EU 18 45720308 45720308 single base substitution G T intron_variant BRCA-EU 18 45720653 45720653 single base substitution G C intron_variant BRCA-EU 18 45721890 45721890 single base substitution C T intron_variant BRCA-EU 18 45722243 45722243 deletion of <=200bp T - intron_variant BRCA-EU 18 45724233 45724233 single base substitution C G intron_variant BRCA-EU 18 45724284 45724284 single base substitution T A intron_variant BRCA-EU 18 45724640 45724640 single base substitution C G intron_variant BRCA-EU 18 45725019 45725019 single base substitution C T intron_variant BRCA-EU 18 45725954 45725954 single base substitution C A intron_variant BRCA-EU 18 45725964 45725964 single base substitution G C intron_variant BRCA-EU 18 45727705 45727705 single base substitution G C intron_variant BRCA-EU 18 45728416 45728416 single base substitution G C intron_variant BRCA-EU 18 45728576 45728576 single base substitution A T intron_variant BRCA-EU 18 45731090 45731090 single base substitution G A intron_variant BRCA-EU 18 45731090 45731090 single base substitution G A upstream_gene_variant BRCA-EU 18 45733438 45733438 single base substitution G T intron_variant BRCA-EU 18 45733438 45733438 single base substitution G T upstream_gene_variant BRCA-EU 18 45735598 45735598 single base substitution G T intron_variant BRCA-EU 18 45736336 45736336 single base substitution A T intron_variant BRCA-EU 18 45737007 45737007 single base substitution T A intron_variant BRCA-EU 18 45737668 45737668 single base substitution A T intron_variant BRCA-EU 18 45737957 45737957 single base substitution C G intron_variant BRCA-EU 18 45740217 45740217 single base substitution C G intron_variant BRCA-EU 18 45740335 45740335 single base substitution G C intron_variant BRCA-EU 18 45740544 45740544 single base substitution A T intron_variant BRCA-EU 18 45741308 45741308 single base substitution C T intron_variant BRCA-EU 18 45742437 45742437 single base substitution C G intron_variant BRCA-EU 18 45742896 45742896 deletion of <=200bp G - intron_variant BRCA-EU 18 45743832 45743832 single base substitution A T intron_variant BRCA-EU 18 45747110 45747110 single base substitution A G intron_variant BRCA-EU 18 45747808 45747808 single base substitution T C intron_variant BRCA-EU 18 45748196 45748196 single base substitution C G intron_variant BRCA-EU 18 45749565 45749565 single base substitution G A intron_variant BRCA-EU 18 45755261 45755261 single base substitution C G intron_variant BRCA-EU 18 45756156 45756156 single base substitution G A intron_variant BRCA-EU 18 45756911 45756911 single base substitution G A intron_variant BRCA-EU 18 45757170 45757170 single base substitution G C intron_variant BRCA-EU 18 45757260 45757287 deletion of <=200bp CCACTCTGATTTTGGAGCAAAGTTGTGG - intron_variant BRCA-EU 18 45758027 45758027 single base substitution G C intron_variant BRCA-EU 18 45758169 45758169 single base substitution G C intron_variant BRCA-EU 18 45759620 45759620 deletion of <=200bp C - intron_variant BRCA-EU 18 45759866 45759866 single base substitution T C intron_variant BRCA-EU 18 45760113 45760113 single base substitution T C intron_variant BRCA-EU 18 45760342 45760342 single base substitution G A intron_variant BRCA-EU 18 45760541 45760541 single base substitution C T intron_variant BRCA-EU 18 45760889 45760889 single base substitution G A intron_variant BRCA-EU 18 45761080 45761085 deletion of <=200bp CATCTT - intron_variant BRCA-EU 18 45761358 45761358 single base substitution G A intron_variant BRCA-EU 18 45761500 45761500 single base substitution C G intron_variant BRCA-EU 18 45761965 45761965 single base substitution C T intron_variant BRCA-EU 18 45762248 45762248 single base substitution G T intron_variant BRCA-EU 18 45763759 45763759 single base substitution G A intron_variant BRCA-EU 18 45763806 45763806 single base substitution G C intron_variant BRCA-EU 18 45764541 45764560 deletion of <=200bp TTAAAGTGGGTGGCTTTAAG - intron_variant BRCA-EU 18 45765385 45765385 single base substitution G C intron_variant BRCA-EU 18 45766203 45766203 single base substitution C A intron_variant BRCA-EU 18 45766252 45766252 insertion of <=200bp - A intron_variant BRCA-EU 18 45767462 45767462 deletion of <=200bp A - intron_variant BRCA-EU 18 45768009 45768009 insertion of <=200bp - A intron_variant BRCA-EU 18 45768059 45768059 single base substitution C G intron_variant BRCA-EU 18 45768370 45768370 single base substitution G C intron_variant BRCA-EU 18 45770005 45770005 single base substitution C T intron_variant BRCA-EU 18 45770465 45770465 single base substitution C A intron_variant BRCA-EU 18 45770924 45770933 deletion of <=200bp ACTACTATCC - intron_variant BRCA-EU 18 45774104 45774104 single base substitution G A intron_variant BRCA-EU 18 45777463 45777463 single base substitution C T intron_variant BRCA-EU 18 45777578 45777578 single base substitution G C intron_variant BRCA-EU 18 45777983 45777983 single base substitution C G intron_variant BRCA-EU 18 45778115 45778115 single base substitution C T intron_variant BRCA-EU 18 45778236 45778236 single base substitution C A intron_variant BRCA-EU 18 45778256 45778256 single base substitution G C intron_variant BRCA-EU 18 45778558 45778558 single base substitution C T 5_prime_UTR_variant BRCA-EU 18 45778558 45778558 single base substitution C T intron_variant BRCA-EU 18 45779412 45779412 single base substitution G T intron_variant BRCA-EU 18 45780417 45780417 single base substitution C T intron_variant BRCA-EU 18 45780817 45780817 single base substitution G C intron_variant BRCA-EU 18 45782578 45782578 single base substitution G A intron_variant BRCA-EU 18 45782753 45782753 single base substitution G T intron_variant BRCA-EU 18 45783454 45783454 single base substitution G T intron_variant BRCA-EU 18 45783550 45783550 single base substitution G C intron_variant BRCA-EU 18 45783619 45783619 single base substitution G C intron_variant BRCA-EU 18 45785142 45785142 single base substitution G T intron_variant BRCA-EU 18 45785345 45785345 single base substitution G C intron_variant BRCA-EU 18 45786904 45786904 single base substitution A C intron_variant BRCA-EU 18 45787573 45787573 single base substitution G C intron_variant BRCA-EU 18 45788097 45788097 single base substitution C T intron_variant BRCA-EU 18 45788683 45788683 single base substitution G A intron_variant BRCA-EU 18 45791936 45791936 single base substitution C T intron_variant BRCA-EU 18 45792333 45792333 single base substitution G T intron_variant BRCA-EU 18 45793465 45793465 single base substitution C T intron_variant BRCA-EU 18 45794222 45794222 single base substitution G T intron_variant BRCA-EU 18 45794463 45794463 deletion of <=200bp A - intron_variant BRCA-EU 18 45795155 45795155 single base substitution T C intron_variant BRCA-EU 18 45796041 45796041 single base substitution A G intron_variant BRCA-EU 18 45796145 45796145 single base substitution C G intron_variant BRCA-EU 18 45796453 45796453 single base substitution G C intron_variant BRCA-EU 18 45796660 45796660 single base substitution C T intron_variant BRCA-EU 18 45796875 45796875 single base substitution G C intron_variant BRCA-EU 18 45797317 45797317 single base substitution G C intron_variant BRCA-EU 18 45798405 45798405 single base substitution T A intron_variant BRCA-EU 18 45801138 45801138 single base substitution C T intron_variant BRCA-EU 18 45801285 45801285 single base substitution G A intron_variant BRCA-EU 18 45801781 45801781 single base substitution T C intron_variant BRCA-EU 18 45802448 45802448 single base substitution C T intron_variant BRCA-EU 18 45804265 45804265 single base substitution T C intron_variant BRCA-EU 18 45805219 45805219 single base substitution G C intron_variant BRCA-EU 18 45806396 45806396 single base substitution C G intron_variant BRCA-EU 18 45807893 45807893 single base substitution C A intron_variant BRCA-EU 18 45808669 45808669 single base substitution C G intron_variant BRCA-EU 18 45810451 45810451 single base substitution G C intron_variant BRCA-EU 18 45811704 45811704 single base substitution G C intron_variant BRCA-EU 18 45812132 45812151 deletion of <=200bp ATGGAGAGTTTTATCTGTTT - intron_variant BRCA-EU 18 45814580 45814580 single base substitution T C intron_variant BRCA-EU 18 45815838 45815838 deletion of <=200bp A - intron_variant BRCA-EU 18 45816418 45816418 single base substitution A G intron_variant BRCA-EU 18 45816616 45816616 single base substitution C A intron_variant BRCA-EU 18 45817020 45817020 single base substitution C A intron_variant BRCA-EU 18 45818540 45818540 single base substitution G C intron_variant BRCA-EU 18 45818837 45818837 single base substitution C A intron_variant BRCA-EU 18 45821915 45821915 single base substitution G A intron_variant BRCA-EU 18 45822304 45822304 single base substitution G A intron_variant BRCA-EU 18 45823609 45823609 single base substitution T C intron_variant BRCA-EU 18 45823751 45823751 single base substitution G A intron_variant BRCA-EU 18 45827027 45827027 deletion of <=200bp A - intron_variant BRCA-EU 18 45828475 45828475 single base substitution G C intron_variant BRCA-EU 18 45829136 45829136 single base substitution G C intron_variant BRCA-EU 18 45829207 45829207 single base substitution G A intron_variant BRCA-EU 18 45833317 45833317 single base substitution G C intron_variant BRCA-EU 18 45833843 45833843 single base substitution G C intron_variant BRCA-EU 18 45834457 45834457 single base substitution G C intron_variant BRCA-EU 18 45834632 45834632 single base substitution T C intron_variant BRCA-EU 18 45838473 45838473 single base substitution C T intron_variant BRCA-EU 18 45840249 45840249 single base substitution G A intron_variant BRCA-EU 18 45842058 45842058 single base substitution A C intron_variant BRCA-EU 18 45842466 45842466 single base substitution T G intron_variant BRCA-EU 18 45843869 45843869 single base substitution C T intron_variant BRCA-EU 18 45844346 45844346 single base substitution T C intron_variant BRCA-EU 18 45844676 45844676 single base substitution G C intron_variant BRCA-EU 18 45845746 45845746 single base substitution C T intron_variant BRCA-EU 18 45845747 45845747 single base substitution C G intron_variant BRCA-EU 18 45845846 45845846 single base substitution C T intron_variant BRCA-EU 18 45846030 45846031 deletion of <=200bp AT - intron_variant BRCA-EU 18 45846973 45846973 single base substitution C T intron_variant BRCA-EU 18 45848883 45848883 single base substitution T A intron_variant BRCA-EU 18 45848917 45848917 single base substitution C T intron_variant BRCA-EU 18 45849853 45849853 single base substitution T C intron_variant BRCA-EU 18 45850700 45850700 single base substitution C T intron_variant BRCA-EU 18 45854295 45854295 single base substitution T G intron_variant BRCA-EU 18 45854526 45854526 single base substitution C T intron_variant BRCA-EU 18 45854839 45854839 single base substitution A T intron_variant BRCA-EU 18 45855808 45855808 single base substitution C T intron_variant BRCA-EU 18 45856167 45856167 single base substitution C G intron_variant BRCA-EU 18 45856282 45856282 single base substitution C T intron_variant BRCA-EU 18 45856796 45856796 single base substitution A G intron_variant BRCA-EU 18 45857147 45857147 single base substitution G A intron_variant BRCA-EU 18 45857346 45857346 single base substitution C G intron_variant BRCA-EU 18 45857455 45857455 single base substitution G A intron_variant BRCA-EU 18 45857528 45857528 single base substitution G A intron_variant BRCA-EU 18 45859156 45859156 single base substitution G A intron_variant BRCA-EU 18 45860571 45860571 single base substitution G C intron_variant BRCA-EU 18 45860944 45860944 single base substitution G C intron_variant BRCA-EU 18 45863350 45863350 single base substitution C A intron_variant BRCA-EU 18 45864148 45864148 single base substitution C T intron_variant BRCA-EU 18 45866029 45866029 single base substitution G A intron_variant BRCA-EU 18 45866029 45866029 single base substitution G A upstream_gene_variant BRCA-EU 18 45871627 45871627 single base substitution G T intron_variant BRCA-EU 18 45871954 45871954 single base substitution C A intron_variant BRCA-EU 18 45873324 45873324 single base substitution T G intron_variant BRCA-EU 18 45873902 45873902 single base substitution C T intron_variant BRCA-EU 18 45874338 45874338 single base substitution G T intron_variant BRCA-EU 18 45874391 45874391 insertion of <=200bp - A intron_variant BRCA-EU 18 45876667 45876667 single base substitution G A intron_variant BRCA-EU 18 45877668 45877669 deletion of <=200bp AA - intron_variant BRCA-EU 18 45878114 45878114 single base substitution G A intron_variant BRCA-EU 18 45880141 45880141 single base substitution T G intron_variant BRCA-EU 18 45880142 45880142 single base substitution G A intron_variant BRCA-EU 18 45882689 45882689 single base substitution C G intron_variant BRCA-EU 18 45884129 45884129 single base substitution A C intron_variant BRCA-EU 18 45884506 45884506 single base substitution G C intron_variant BRCA-EU 18 45884511 45884511 single base substitution C T intron_variant BRCA-EU 18 45885942 45885942 single base substitution G C intron_variant BRCA-EU 18 45887980 45887980 single base substitution C T intron_variant BRCA-EU 18 45889452 45889452 single base substitution C A intron_variant BRCA-EU 18 45890704 45890704 single base substitution G A intron_variant BRCA-EU 18 45892018 45892018 single base substitution G C intron_variant BRCA-EU 18 45892594 45892594 single base substitution G A intron_variant BRCA-EU 18 45892834 45892834 single base substitution A C intron_variant BRCA-EU 18 45895037 45895037 single base substitution G C intron_variant BRCA-EU 18 45895232 45895232 single base substitution C G intron_variant BRCA-EU 18 45895638 45895638 single base substitution G A intron_variant BRCA-EU 18 45898016 45898016 single base substitution G A intron_variant BRCA-EU 18 45902473 45902473 single base substitution T G intron_variant BRCA-EU 18 45902473 45902473 single base substitution T G upstream_gene_variant BRCA-EU 18 45902767 45902767 single base substitution G A intron_variant BRCA-EU 18 45902767 45902767 single base substitution G A upstream_gene_variant BRCA-EU 18 45904510 45904510 deletion of <=200bp A - intron_variant BRCA-EU 18 45904510 45904510 deletion of <=200bp A - upstream_gene_variant BRCA-EU 18 45904623 45904623 single base substitution G A intron_variant BRCA-EU 18 45904623 45904623 single base substitution G A upstream_gene_variant BRCA-EU 18 45905285 45905285 single base substitution A G intron_variant BRCA-EU 18 45905285 45905285 single base substitution A G upstream_gene_variant BRCA-EU 18 45905824 45905824 single base substitution G C intron_variant BRCA-EU 18 45905824 45905824 single base substitution G C upstream_gene_variant BRCA-EU 18 45905910 45905910 single base substitution G C intron_variant BRCA-EU 18 45905910 45905910 single base substitution G C upstream_gene_variant BRCA-EU 18 45906045 45906045 single base substitution A G intron_variant BRCA-EU 18 45906045 45906045 single base substitution A G upstream_gene_variant BRCA-EU 18 45906495 45906495 deletion of <=200bp A - intron_variant BRCA-EU 18 45906495 45906495 deletion of <=200bp A - upstream_gene_variant BRCA-EU 18 45906584 45906584 single base substitution A G intron_variant BRCA-EU 18 45906584 45906584 single base substitution A G upstream_gene_variant BRCA-EU 18 45906957 45906957 single base substitution A G intron_variant BRCA-EU 18 45906957 45906957 single base substitution A G upstream_gene_variant BRCA-EU 18 45907209 45907209 single base substitution A G intron_variant BRCA-EU 18 45907648 45907648 single base substitution A G intron_variant BRCA-EU 18 45909507 45909507 single base substitution C G intron_variant BRCA-EU 18 45910743 45910743 single base substitution G A intron_variant BRCA-EU 18 45910752 45910752 single base substitution A C intron_variant BRCA-EU 18 45911629 45911629 insertion of <=200bp - T intron_variant BRCA-EU 18 45911635 45911635 single base substitution C A intron_variant BRCA-EU 18 45913082 45913082 single base substitution C T intron_variant BRCA-EU 18 45914687 45914687 deletion of <=200bp T - intron_variant BRCA-EU 18 45916373 45916373 single base substitution C G intron_variant BRCA-EU 18 45917288 45917288 single base substitution C G intron_variant BRCA-EU 18 45920377 45920377 single base substitution C A intron_variant BRCA-EU 18 45921909 45921909 single base substitution T A intron_variant BRCA-EU 18 45922882 45922882 single base substitution A T intron_variant BRCA-EU 18 45924344 45924344 single base substitution C A intron_variant BRCA-EU 18 45924578 45924578 single base substitution G T intron_variant BRCA-EU 18 45926102 45926102 single base substitution C T intron_variant BRCA-EU 18 45928466 45928466 single base substitution A C intron_variant BRCA-EU 18 45929121 45929121 single base substitution G A intron_variant BRCA-EU 18 45930237 45930237 single base substitution A G intron_variant BRCA-EU 18 45931733 45931733 single base substitution G A intron_variant BRCA-EU 18 45932056 45932056 single base substitution T C intron_variant BRCA-EU 18 45932069 45932069 single base substitution G T intron_variant BRCA-EU 18 45932209 45932209 single base substitution C T intron_variant BRCA-EU 18 45933367 45933367 single base substitution T C intron_variant BRCA-EU 18 45933677 45933677 single base substitution C T intron_variant BRCA-EU 18 45934988 45934988 single base substitution C G 5_prime_UTR_variant BRCA-EU 18 45934988 45934988 single base substitution C G intron_variant BRCA-EU 18 45935703 45935703 single base substitution C T 5_prime_UTR_variant BRCA-EU 18 45935703 45935703 single base substitution C T intron_variant BRCA-EU 18 45935703 45935703 single base substitution C T upstream_gene_variant BRCA-EU 18 45936421 45936421 single base substitution G T intron_variant BRCA-EU 18 45936421 45936421 single base substitution G T upstream_gene_variant BRCA-EU 18 45937169 45937169 single base substitution G A upstream_gene_variant BRCA-EU 18 45938075 45938075 single base substitution A G upstream_gene_variant BRCA-EU 18 45939624 45939624 single base substitution G A upstream_gene_variant BRCA-EU 18 45940613 45940613 single base substitution C G upstream_gene_variant BRCA-EU 18 45941091 45941091 single base substitution G A upstream_gene_variant BRCA-FR 18 45554545 45554545 single base substitution G C 3_prime_UTR_variant BRCA-FR 18 45567735 45567735 single base substitution C G intron_variant BRCA-FR 18 45567735 45567735 single base substitution C G upstream_gene_variant BRCA-FR 18 45573459 45573459 single base substitution G T intron_variant BRCA-FR 18 45587711 45587711 single base substitution G A intron_variant BRCA-FR 18 45599612 45599612 single base substitution G A intron_variant BRCA-FR 18 45599957 45599957 single base substitution G C intron_variant BRCA-FR 18 45604869 45604869 single base substitution G C intron_variant BRCA-FR 18 45609145 45609145 single base substitution G A intron_variant BRCA-FR 18 45622437 45622437 single base substitution G A intron_variant BRCA-FR 18 45622975 45622975 single base substitution C A intron_variant BRCA-FR 18 45627142 45627142 single base substitution G A intron_variant BRCA-FR 18 45627832 45627832 single base substitution G C intron_variant BRCA-FR 18 45633525 45633525 single base substitution G C intron_variant BRCA-FR 18 45635510 45635510 single base substitution C T intron_variant BRCA-FR 18 45655538 45655538 single base substitution A G intron_variant BRCA-FR 18 45685418 45685418 single base substitution G C intron_variant BRCA-FR 18 45688685 45688685 single base substitution G A intron_variant BRCA-FR 18 45707482 45707482 single base substitution T C intron_variant BRCA-FR 18 45708708 45708708 single base substitution C G intron_variant BRCA-FR 18 45709531 45709531 single base substitution C A intron_variant BRCA-FR 18 45710582 45710582 single base substitution G T intron_variant BRCA-FR 18 45711561 45711561 single base substitution C A intron_variant BRCA-FR 18 45714093 45714093 single base substitution G A intron_variant BRCA-FR 18 45724284 45724284 single base substitution T A intron_variant BRCA-FR 18 45724661 45724661 single base substitution C T intron_variant BRCA-FR 18 45736144 45736144 single base substitution C A intron_variant BRCA-FR 18 45737957 45737957 single base substitution C G intron_variant BRCA-FR 18 45740217 45740217 single base substitution C G intron_variant BRCA-FR 18 45740335 45740335 single base substitution G C intron_variant BRCA-FR 18 45741308 45741308 single base substitution C T intron_variant BRCA-FR 18 45742437 45742437 single base substitution C G intron_variant BRCA-FR 18 45756156 45756156 single base substitution G A intron_variant BRCA-FR 18 45758027 45758027 single base substitution G C intron_variant BRCA-FR 18 45758169 45758169 single base substitution G C intron_variant BRCA-FR 18 45761329 45761329 single base substitution C A intron_variant BRCA-FR 18 45761358 45761358 single base substitution G A intron_variant BRCA-FR 18 45761500 45761500 single base substitution C G intron_variant BRCA-FR 18 45762248 45762248 single base substitution G T intron_variant BRCA-FR 18 45763759 45763759 single base substitution G A intron_variant BRCA-FR 18 45765385 45765385 single base substitution G C intron_variant BRCA-FR 18 45770005 45770005 single base substitution C T intron_variant BRCA-FR 18 45770068 45770068 single base substitution A C intron_variant BRCA-FR 18 45778256 45778256 single base substitution G C intron_variant BRCA-FR 18 45787573 45787573 single base substitution G C intron_variant BRCA-FR 18 45787976 45787976 single base substitution C A intron_variant BRCA-FR 18 45795101 45795101 single base substitution C G intron_variant BRCA-FR 18 45801138 45801138 single base substitution C T intron_variant BRCA-FR 18 45817020 45817020 single base substitution C A intron_variant BRCA-FR 18 45817445 45817445 single base substitution C A intron_variant BRCA-FR 18 45819737 45819737 single base substitution C G intron_variant BRCA-FR 18 45829136 45829136 single base substitution G C intron_variant BRCA-FR 18 45838473 45838473 single base substitution C T intron_variant BRCA-FR 18 45844676 45844676 single base substitution G C intron_variant BRCA-FR 18 45845161 45845161 single base substitution G C intron_variant BRCA-FR 18 45857147 45857147 single base substitution G A intron_variant BRCA-FR 18 45857346 45857346 single base substitution C G intron_variant BRCA-FR 18 45857455 45857455 single base substitution G A intron_variant BRCA-FR 18 45858258 45858258 single base substitution G A intron_variant BRCA-FR 18 45860944 45860944 single base substitution G C intron_variant BRCA-FR 18 45864476 45864476 single base substitution C T intron_variant BRCA-FR 18 45871954 45871954 single base substitution C A intron_variant BRCA-FR 18 45902767 45902767 single base substitution G A intron_variant BRCA-FR 18 45902767 45902767 single base substitution G A upstream_gene_variant BRCA-FR 18 45917288 45917288 single base substitution C G intron_variant BRCA-FR 18 45930811 45930811 single base substitution C T intron_variant BRCA-FR 18 45940295 45940295 single base substitution C G upstream_gene_variant BRCA-UK 18 45569717 45569717 single base substitution C A intron_variant BRCA-UK 18 45569717 45569717 single base substitution C A upstream_gene_variant BRCA-UK 18 45574687 45574687 single base substitution G C intron_variant BRCA-UK 18 45589639 45589639 single base substitution G A intron_variant BRCA-UK 18 45597581 45597581 single base substitution G C intron_variant BRCA-UK 18 45603049 45603049 single base substitution G T intron_variant BRCA-UK 18 45609595 45609595 single base substitution C T intron_variant BRCA-UK 18 45635527 45635527 single base substitution G A intron_variant BRCA-UK 18 45636361 45636361 single base substitution G C intron_variant BRCA-UK 18 45638028 45638028 single base substitution G C intron_variant BRCA-UK 18 45638554 45638554 single base substitution G A intron_variant BRCA-UK 18 45642775 45642775 single base substitution C A intron_variant BRCA-UK 18 45643829 45643829 single base substitution G A intron_variant BRCA-UK 18 45646309 45646309 single base substitution G A intron_variant BRCA-UK 18 45668123 45668123 single base substitution G C intron_variant BRCA-UK 18 45668123 45668123 single base substitution G C upstream_gene_variant BRCA-UK 18 45673556 45673556 single base substitution C T intron_variant BRCA-UK 18 45690052 45690052 single base substitution G C intron_variant BRCA-UK 18 45701996 45701996 single base substitution G C intron_variant BRCA-UK 18 45721943 45721943 single base substitution C G intron_variant BRCA-UK 18 45761080 45761085 deletion of <=200bp CATCTT - intron_variant BRCA-UK 18 45774104 45774104 single base substitution G A intron_variant BRCA-UK 18 45796875 45796875 single base substitution G C intron_variant BRCA-UK 18 45853288 45853288 single base substitution G C intron_variant BRCA-UK 18 45902473 45902473 single base substitution T G intron_variant BRCA-UK 18 45902473 45902473 single base substitution T G upstream_gene_variant BRCA-UK 18 45904623 45904623 single base substitution G A intron_variant BRCA-UK 18 45904623 45904623 single base substitution G A upstream_gene_variant BRCA-UK 18 45913916 45913916 single base substitution C T intron_variant BRCA-US 18 45566387 45566387 single base substitution C T downstream_gene_variant BRCA-US 18 45566387 45566387 single base substitution C T synonymous_variant Q364Q 1092G>A BRCA-US 18 45566388 45566388 single base substitution T G downstream_gene_variant BRCA-US 18 45566388 45566388 single base substitution T G missense_variant Q364P 1091A>C BRCA-US 18 45566518 45566518 insertion of <=200bp - C downstream_gene_variant BRCA-US 18 45566518 45566518 insertion of <=200bp - C frameshift_variant P321R? BRCA-US 18 45567085 45567085 deletion of <=200bp C - downstream_gene_variant BRCA-US 18 45567085 45567085 deletion of <=200bp C - frameshift_variant D132 BRCA-US 18 45567396 45567396 single base substitution C T downstream_gene_variant BRCA-US 18 45567396 45567396 single base substitution C T missense_variant R28Q 83G>A BTCA-JP 18 45555819 45555819 single base substitution G C missense_variant L558V 1672C>G BTCA-JP 18 45555946 45555946 single base substitution G A synonymous_variant G515G 1545C>T BTCA-JP 18 45556155 45556155 single base substitution G A missense_variant R446W 1336C>T BTCA-JP 18 45556256 45556256 single base substitution C T missense_variant R412Q 1235G>A BTCA-JP 18 45566519 45566519 deletion of <=200bp C - downstream_gene_variant BTCA-JP 18 45566519 45566519 deletion of <=200bp C - frameshift_variant G320 BTCA-JP 18 45566994 45566994 single base substitution T C downstream_gene_variant BTCA-JP 18 45566994 45566994 single base substitution T C missense_variant E162G 485A>G BTCA-JP 18 45567050 45567050 single base substitution G A downstream_gene_variant BTCA-JP 18 45567050 45567050 single base substitution G A synonymous_variant D143D 429C>T BTCA-JP 18 45688814 45688814 single base substitution G A intron_variant BTCA-JP 18 45691715 45691715 single base substitution T C 5_prime_UTR_variant BTCA-JP 18 45691715 45691715 single base substitution T C intron_variant BTCA-JP 18 45691715 45691715 single base substitution T C upstream_gene_variant BTCA-JP 18 45706519 45706519 single base substitution T C intron_variant CESC-US 18 45555962 45555962 single base substitution G A missense_variant A510V 1529C>T CESC-US 18 45567016 45567016 single base substitution C T downstream_gene_variant CESC-US 18 45567016 45567016 single base substitution C T missense_variant E155K 463G>A CLLE-ES 18 45559450 45559450 single base substitution C A intron_variant CLLE-ES 18 45561884 45561884 single base substitution A C intron_variant CLLE-ES 18 45591631 45591631 single base substitution T C intron_variant CLLE-ES 18 45595723 45595723 single base substitution G A intron_variant CLLE-ES 18 45602105 45602105 single base substitution A G intron_variant CLLE-ES 18 45614274 45614274 single base substitution C A intron_variant CLLE-ES 18 45624049 45624049 single base substitution C T intron_variant CLLE-ES 18 45624059 45624059 single base substitution C T intron_variant CLLE-ES 18 45624172 45624172 single base substitution A G intron_variant CLLE-ES 18 45624264 45624264 single base substitution T C intron_variant CLLE-ES 18 45630237 45630237 single base substitution A G intron_variant CLLE-ES 18 45630896 45630896 single base substitution T G intron_variant CLLE-ES 18 45644375 45644375 single base substitution T C intron_variant CLLE-ES 18 45657849 45657849 single base substitution T G intron_variant CLLE-ES 18 45659401 45659401 single base substitution G A intron_variant CLLE-ES 18 45662842 45662842 single base substitution C G intron_variant CLLE-ES 18 45742076 45742076 single base substitution A T intron_variant CLLE-ES 18 45774311 45774311 single base substitution G A intron_variant CLLE-ES 18 45779907 45779907 single base substitution G C intron_variant CLLE-ES 18 45785954 45785954 single base substitution C A intron_variant CLLE-ES 18 45811393 45811393 single base substitution G C intron_variant CLLE-ES 18 45823187 45823187 single base substitution A T intron_variant CLLE-ES 18 45824036 45824036 single base substitution T A intron_variant CLLE-ES 18 45829443 45829443 single base substitution C G intron_variant CLLE-ES 18 45833626 45833626 single base substitution C T intron_variant CLLE-ES 18 45846678 45846678 single base substitution G A intron_variant CLLE-ES 18 45851190 45851190 single base substitution C T intron_variant CLLE-ES 18 45851598 45851598 single base substitution G A intron_variant CLLE-ES 18 45889280 45889280 single base substitution T C intron_variant CLLE-ES 18 45892933 45892933 single base substitution G A intron_variant CLLE-ES 18 45898644 45898644 single base substitution G A intron_variant CLLE-ES 18 45905330 45905330 single base substitution G C intron_variant CLLE-ES 18 45905330 45905330 single base substitution G C upstream_gene_variant CLLE-ES 18 45913458 45913465 deletion of <=200bp TGAGGGGC - intron_variant CLLE-ES 18 45922267 45922267 single base substitution G C intron_variant CLLE-ES 18 45928281 45928281 single base substitution G A intron_variant CLLE-ES 18 45933552 45933552 single base substitution G C intron_variant COAD-US 18 45555829 45555829 single base substitution T C synonymous_variant T554T 1662A>G COAD-US 18 45556065 45556065 single base substitution G A missense_variant R476W 1426C>T COAD-US 18 45556141 45556141 single base substitution G A synonymous_variant C450C 1350C>T COAD-US 18 45566276 45566276 single base substitution G A downstream_gene_variant COAD-US 18 45566276 45566276 single base substitution G A synonymous_variant F401F 1203C>T COAD-US 18 45566519 45566519 deletion of <=200bp C - downstream_gene_variant COAD-US 18 45566519 45566519 deletion of <=200bp C - frameshift_variant G320 COAD-US 18 45566672 45566672 single base substitution C T downstream_gene_variant COAD-US 18 45566672 45566672 single base substitution C T synonymous_variant Q269Q 807G>A COAD-US 18 45566674 45566674 single base substitution G A downstream_gene_variant COAD-US 18 45566674 45566674 single base substitution G A stop_gained Q269* 805C>T COAD-US 18 45567002 45567002 insertion of <=200bp - TCC downstream_gene_variant COAD-US 18 45567002 45567002 insertion of <=200bp - TCC inframe_insertion E159EG COAD-US 18 45567053 45567053 single base substitution A G downstream_gene_variant COAD-US 18 45567053 45567053 single base substitution A G synonymous_variant D142D 426T>C COAD-US 18 45567085 45567085 deletion of <=200bp C - downstream_gene_variant COAD-US 18 45567085 45567085 deletion of <=200bp C - frameshift_variant D132 COAD-US 18 45567213 45567213 single base substitution A G downstream_gene_variant COAD-US 18 45567213 45567213 single base substitution A G missense_variant L89P 266T>C COCA-CN 18 45555748 45555748 single base substitution G A synonymous_variant N581N 1743C>T COCA-CN 18 45566649 45566649 single base substitution C T downstream_gene_variant COCA-CN 18 45566649 45566649 single base substitution C T missense_variant S277N 830G>A COCA-CN 18 45567053 45567053 single base substitution A T downstream_gene_variant COCA-CN 18 45567053 45567053 single base substitution A T missense_variant D142E 426T>A COCA-CN 18 45567392 45567392 single base substitution G A downstream_gene_variant COCA-CN 18 45567392 45567392 single base substitution G A synonymous_variant H29H 87C>T COCA-CN 18 45711709 45711709 single base substitution C A 5_prime_UTR_variant COCA-CN 18 45711709 45711709 single base substitution C A intron_variant COCA-CN 18 45866577 45866577 single base substitution G T intron_variant COCA-CN 18 45866577 45866577 single base substitution G T upstream_gene_variant EOPC-DE 18 45574315 45574315 single base substitution G A intron_variant EOPC-DE 18 45577323 45577323 single base substitution C T intron_variant EOPC-DE 18 45662858 45662858 single base substitution G T intron_variant EOPC-DE 18 45730255 45730255 single base substitution A G intron_variant EOPC-DE 18 45730255 45730255 single base substitution A G upstream_gene_variant EOPC-DE 18 45730704 45730704 single base substitution T C intron_variant EOPC-DE 18 45730704 45730704 single base substitution T C upstream_gene_variant EOPC-DE 18 45738237 45738237 single base substitution T C intron_variant EOPC-DE 18 45812195 45812195 single base substitution T A intron_variant EOPC-DE 18 45817610 45817610 single base substitution C T intron_variant EOPC-DE 18 45909005 45909005 single base substitution A G intron_variant EOPC-DE 18 45932315 45932315 single base substitution C T intron_variant ESAD-UK 18 45549557 45549557 single base substitution G T downstream_gene_variant ESAD-UK 18 45550006 45550006 single base substitution C T downstream_gene_variant ESAD-UK 18 45550361 45550361 single base substitution T C downstream_gene_variant ESAD-UK 18 45551212 45551212 single base substitution G A downstream_gene_variant ESAD-UK 18 45555375 45555376 deletion of <=200bp TA - 3_prime_UTR_variant ESAD-UK 18 45558660 45558660 deletion of <=200bp T - intron_variant ESAD-UK 18 45559113 45559115 deletion of <=200bp GTT - intron_variant ESAD-UK 18 45559533 45559533 single base substitution G A intron_variant ESAD-UK 18 45559632 45559632 single base substitution C G intron_variant ESAD-UK 18 45559791 45559794 deletion of <=200bp AACA - intron_variant ESAD-UK 18 45563602 45563602 single base substitution T G downstream_gene_variant ESAD-UK 18 45563602 45563602 single base substitution T G intron_variant ESAD-UK 18 45565713 45565713 single base substitution C A downstream_gene_variant ESAD-UK 18 45565713 45565713 single base substitution C A intron_variant ESAD-UK 18 45566519 45566519 deletion of <=200bp C - downstream_gene_variant ESAD-UK 18 45566519 45566519 deletion of <=200bp C - frameshift_variant G320 ESAD-UK 18 45567076 45567076 insertion of <=200bp - C downstream_gene_variant ESAD-UK 18 45567076 45567076 insertion of <=200bp - C frameshift_variant E135G? ESAD-UK 18 45568117 45568117 single base substitution T A intron_variant ESAD-UK 18 45568117 45568117 single base substitution T A upstream_gene_variant ESAD-UK 18 45568118 45568118 single base substitution A T intron_variant ESAD-UK 18 45568118 45568118 single base substitution A T upstream_gene_variant ESAD-UK 18 45573624 45573624 single base substitution C T intron_variant ESAD-UK 18 45574010 45574010 insertion of <=200bp - A intron_variant ESAD-UK 18 45574639 45574639 single base substitution G A intron_variant ESAD-UK 18 45577640 45577640 single base substitution G A intron_variant ESAD-UK 18 45580643 45580643 single base substitution G T intron_variant ESAD-UK 18 45585188 45585188 single base substitution G A intron_variant ESAD-UK 18 45586597 45586597 single base substitution G A intron_variant ESAD-UK 18 45587800 45587800 single base substitution T A intron_variant ESAD-UK 18 45588275 45588275 single base substitution C G intron_variant ESAD-UK 18 45591599 45591599 single base substitution A T intron_variant ESAD-UK 18 45592749 45592749 single base substitution T C intron_variant ESAD-UK 18 45593218 45593218 single base substitution A C intron_variant ESAD-UK 18 45593606 45593606 single base substitution G A intron_variant ESAD-UK 18 45594361 45594361 single base substitution A C intron_variant ESAD-UK 18 45596054 45596054 single base substitution T G intron_variant ESAD-UK 18 45599162 45599162 single base substitution G A intron_variant ESAD-UK 18 45601891 45601891 deletion of <=200bp G - intron_variant ESAD-UK 18 45608709 45608709 single base substitution C G intron_variant ESAD-UK 18 45610045 45610045 single base substitution C G intron_variant ESAD-UK 18 45611192 45611192 single base substitution T C intron_variant ESAD-UK 18 45613399 45613399 single base substitution C T intron_variant ESAD-UK 18 45616515 45616515 single base substitution T G intron_variant ESAD-UK 18 45616745 45616745 single base substitution G A intron_variant ESAD-UK 18 45617421 45617421 insertion of <=200bp - A intron_variant ESAD-UK 18 45618221 45618221 single base substitution G A intron_variant ESAD-UK 18 45620674 45620674 single base substitution G C intron_variant ESAD-UK 18 45621795 45621795 single base substitution C T intron_variant ESAD-UK 18 45623009 45623009 single base substitution C T intron_variant ESAD-UK 18 45632060 45632060 deletion of <=200bp A - intron_variant ESAD-UK 18 45634589 45634589 single base substitution G A intron_variant ESAD-UK 18 45634611 45634611 single base substitution C A intron_variant ESAD-UK 18 45636885 45636885 single base substitution C T intron_variant ESAD-UK 18 45637820 45637820 single base substitution C T intron_variant ESAD-UK 18 45639154 45639154 single base substitution G T intron_variant ESAD-UK 18 45639318 45639318 single base substitution T C intron_variant ESAD-UK 18 45644223 45644223 single base substitution C A intron_variant ESAD-UK 18 45651048 45651048 single base substitution A G intron_variant ESAD-UK 18 45657851 45657851 single base substitution T G intron_variant ESAD-UK 18 45663145 45663145 single base substitution C T intron_variant ESAD-UK 18 45671468 45671468 single base substitution G T intron_variant ESAD-UK 18 45672254 45672254 single base substitution T C intron_variant ESAD-UK 18 45672986 45672986 single base substitution G T intron_variant ESAD-UK 18 45672997 45672997 single base substitution C G intron_variant ESAD-UK 18 45675684 45675684 single base substitution G T intron_variant ESAD-UK 18 45676323 45676323 single base substitution C T intron_variant ESAD-UK 18 45677054 45677054 single base substitution G A intron_variant ESAD-UK 18 45678527 45678527 single base substitution T C intron_variant ESAD-UK 18 45679291 45679291 single base substitution G A intron_variant ESAD-UK 18 45681926 45681926 single base substitution G A intron_variant ESAD-UK 18 45683204 45683204 single base substitution T C intron_variant ESAD-UK 18 45685445 45685445 single base substitution G C intron_variant ESAD-UK 18 45685535 45685538 deletion of <=200bp TTAT - intron_variant ESAD-UK 18 45686525 45686525 single base substitution C T intron_variant ESAD-UK 18 45687705 45687705 single base substitution G C intron_variant ESAD-UK 18 45687800 45687800 single base substitution G C intron_variant ESAD-UK 18 45688295 45688295 single base substitution C A intron_variant ESAD-UK 18 45692495 45692495 single base substitution C T intron_variant ESAD-UK 18 45692495 45692495 single base substitution C T upstream_gene_variant ESAD-UK 18 45696944 45696944 single base substitution C G intron_variant ESAD-UK 18 45698550 45698550 single base substitution G A intron_variant ESAD-UK 18 45699378 45699378 single base substitution G C intron_variant ESAD-UK 18 45699504 45699504 single base substitution G A intron_variant ESAD-UK 18 45700419 45700419 single base substitution A C intron_variant ESAD-UK 18 45700634 45700634 single base substitution A C intron_variant ESAD-UK 18 45701447 45701447 single base substitution G A intron_variant ESAD-UK 18 45704402 45704402 single base substitution C A intron_variant ESAD-UK 18 45706969 45706969 insertion of <=200bp - G intron_variant ESAD-UK 18 45710462 45710462 single base substitution A C intron_variant ESAD-UK 18 45711350 45711350 single base substitution C T intron_variant ESAD-UK 18 45717339 45717339 single base substitution T C intron_variant ESAD-UK 18 45726155 45726155 single base substitution C T intron_variant ESAD-UK 18 45726205 45726205 single base substitution G A intron_variant ESAD-UK 18 45727260 45727260 single base substitution G A intron_variant ESAD-UK 18 45727290 45727290 single base substitution T C intron_variant ESAD-UK 18 45727406 45727406 single base substitution G A intron_variant ESAD-UK 18 45728641 45728641 single base substitution C T intron_variant ESAD-UK 18 45730310 45730310 single base substitution G A intron_variant ESAD-UK 18 45730310 45730310 single base substitution G A upstream_gene_variant ESAD-UK 18 45733798 45733798 single base substitution A T intron_variant ESAD-UK 18 45733798 45733798 single base substitution A T upstream_gene_variant ESAD-UK 18 45734324 45734324 single base substitution T C intron_variant ESAD-UK 18 45734324 45734324 single base substitution T C upstream_gene_variant ESAD-UK 18 45739384 45739384 single base substitution C G intron_variant ESAD-UK 18 45739493 45739493 single base substitution G A intron_variant ESAD-UK 18 45742725 45742725 single base substitution G T intron_variant ESAD-UK 18 45743121 45743121 single base substitution C T intron_variant ESAD-UK 18 45747802 45747802 insertion of <=200bp - C intron_variant ESAD-UK 18 45748906 45748906 single base substitution T C intron_variant ESAD-UK 18 45749059 45749059 single base substitution G C intron_variant ESAD-UK 18 45750387 45750387 single base substitution G C intron_variant ESAD-UK 18 45750763 45750763 single base substitution A C intron_variant ESAD-UK 18 45752827 45752827 single base substitution C T intron_variant ESAD-UK 18 45752835 45752835 single base substitution G T intron_variant ESAD-UK 18 45757814 45757814 single base substitution C A intron_variant ESAD-UK 18 45758424 45758424 single base substitution G A intron_variant ESAD-UK 18 45760847 45760847 single base substitution G T intron_variant ESAD-UK 18 45761434 45761434 single base substitution T C intron_variant ESAD-UK 18 45763297 45763298 deletion of <=200bp AG - intron_variant ESAD-UK 18 45763958 45763958 single base substitution G A intron_variant ESAD-UK 18 45764942 45764942 single base substitution T A intron_variant ESAD-UK 18 45764944 45764944 single base substitution A G intron_variant ESAD-UK 18 45765888 45765888 single base substitution A G intron_variant ESAD-UK 18 45769585 45769585 single base substitution A C intron_variant ESAD-UK 18 45770324 45770324 single base substitution G T intron_variant ESAD-UK 18 45771999 45771999 single base substitution C T intron_variant ESAD-UK 18 45772661 45772661 single base substitution C A intron_variant ESAD-UK 18 45772790 45772790 single base substitution G T intron_variant ESAD-UK 18 45774555 45774555 single base substitution C T intron_variant ESAD-UK 18 45776058 45776058 single base substitution G C intron_variant ESAD-UK 18 45776089 45776090 deletion of <=200bp AA - intron_variant ESAD-UK 18 45776532 45776532 single base substitution G A intron_variant ESAD-UK 18 45777244 45777244 single base substitution C T intron_variant ESAD-UK 18 45782502 45782502 single base substitution A T intron_variant ESAD-UK 18 45784242 45784242 single base substitution C A intron_variant ESAD-UK 18 45784653 45784653 single base substitution C T intron_variant ESAD-UK 18 45786689 45786689 single base substitution T G intron_variant ESAD-UK 18 45789331 45789331 single base substitution C T intron_variant ESAD-UK 18 45790644 45790644 single base substitution T G intron_variant ESAD-UK 18 45794821 45794821 single base substitution G C intron_variant ESAD-UK 18 45796899 45796899 single base substitution A C intron_variant ESAD-UK 18 45798437 45798437 deletion of <=200bp T - intron_variant ESAD-UK 18 45804225 45804225 single base substitution C A intron_variant ESAD-UK 18 45805053 45805053 single base substitution C A intron_variant ESAD-UK 18 45810882 45810882 single base substitution C T intron_variant ESAD-UK 18 45811897 45811897 insertion of <=200bp - T intron_variant ESAD-UK 18 45812908 45812908 single base substitution C A intron_variant ESAD-UK 18 45815748 45815748 single base substitution T C intron_variant ESAD-UK 18 45817978 45817978 single base substitution C A intron_variant ESAD-UK 18 45820263 45820263 insertion of <=200bp - A intron_variant ESAD-UK 18 45821679 45821679 single base substitution G A intron_variant ESAD-UK 18 45821849 45821849 single base substitution G A intron_variant ESAD-UK 18 45824721 45824721 single base substitution G A intron_variant ESAD-UK 18 45826049 45826049 single base substitution A C intron_variant ESAD-UK 18 45827027 45827027 deletion of <=200bp A - intron_variant ESAD-UK 18 45831042 45831042 single base substitution T C intron_variant ESAD-UK 18 45833672 45833672 single base substitution C A intron_variant ESAD-UK 18 45836681 45836681 single base substitution G T intron_variant ESAD-UK 18 45836811 45836811 insertion of <=200bp - C intron_variant ESAD-UK 18 45838735 45838735 single base substitution C T intron_variant ESAD-UK 18 45839433 45839433 single base substitution T C intron_variant ESAD-UK 18 45843330 45843330 single base substitution G A intron_variant ESAD-UK 18 45845173 45845173 single base substitution C T intron_variant ESAD-UK 18 45846314 45846314 single base substitution C A intron_variant ESAD-UK 18 45848576 45848576 single base substitution C G intron_variant ESAD-UK 18 45848935 45848935 single base substitution C A intron_variant ESAD-UK 18 45855650 45855650 single base substitution G A intron_variant ESAD-UK 18 45858504 45858504 single base substitution A G intron_variant ESAD-UK 18 45859997 45860010 deletion of <=200bp ATCTTTTGAAATAG - intron_variant ESAD-UK 18 45863405 45863405 single base substitution T G intron_variant ESAD-UK 18 45864910 45864910 single base substitution G A intron_variant ESAD-UK 18 45864910 45864910 single base substitution G A upstream_gene_variant ESAD-UK 18 45868525 45868525 single base substitution C T intron_variant ESAD-UK 18 45868525 45868525 single base substitution C T upstream_gene_variant ESAD-UK 18 45868547 45868547 single base substitution G T intron_variant ESAD-UK 18 45868547 45868547 single base substitution G T upstream_gene_variant ESAD-UK 18 45869084 45869084 single base substitution G T intron_variant ESAD-UK 18 45869084 45869084 single base substitution G T upstream_gene_variant ESAD-UK 18 45869654 45869654 single base substitution T C intron_variant ESAD-UK 18 45869654 45869654 single base substitution T C upstream_gene_variant ESAD-UK 18 45870150 45870150 single base substitution C T intron_variant ESAD-UK 18 45874099 45874099 single base substitution G A intron_variant ESAD-UK 18 45879884 45879884 single base substitution A C intron_variant ESAD-UK 18 45880128 45880128 single base substitution C T intron_variant ESAD-UK 18 45884394 45884394 single base substitution G A intron_variant ESAD-UK 18 45884487 45884487 single base substitution C T intron_variant ESAD-UK 18 45884719 45884719 single base substitution C T intron_variant ESAD-UK 18 45886209 45886209 single base substitution G T intron_variant ESAD-UK 18 45888321 45888321 single base substitution G A intron_variant ESAD-UK 18 45895495 45895495 single base substitution A G intron_variant ESAD-UK 18 45897350 45897350 single base substitution G A intron_variant ESAD-UK 18 45899083 45899083 single base substitution T C intron_variant ESAD-UK 18 45901106 45901106 single base substitution T C intron_variant ESAD-UK 18 45901130 45901130 single base substitution A G intron_variant ESAD-UK 18 45902006 45902006 insertion of <=200bp - A intron_variant ESAD-UK 18 45902006 45902006 insertion of <=200bp - A upstream_gene_variant ESAD-UK 18 45903079 45903079 single base substitution C A intron_variant ESAD-UK 18 45903079 45903079 single base substitution C A upstream_gene_variant ESAD-UK 18 45904226 45904235 deletion of <=200bp GAGTAAAAAG - intron_variant ESAD-UK 18 45904226 45904235 deletion of <=200bp GAGTAAAAAG - upstream_gene_variant ESAD-UK 18 45904742 45904742 single base substitution C T intron_variant ESAD-UK 18 45904742 45904742 single base substitution C T upstream_gene_variant ESAD-UK 18 45909218 45909218 single base substitution G T intron_variant ESAD-UK 18 45912284 45912284 single base substitution G A intron_variant ESAD-UK 18 45912648 45912648 single base substitution G A intron_variant ESAD-UK 18 45913004 45913004 single base substitution T C intron_variant ESAD-UK 18 45913255 45913255 single base substitution C G intron_variant ESAD-UK 18 45915181 45915184 deletion of <=200bp AGAG - intron_variant ESAD-UK 18 45916619 45916619 deletion of <=200bp T - intron_variant ESAD-UK 18 45916624 45916624 single base substitution T A intron_variant ESAD-UK 18 45918900 45918900 single base substitution T C intron_variant ESAD-UK 18 45919044 45919044 single base substitution G T intron_variant ESAD-UK 18 45924445 45924445 single base substitution C A intron_variant ESAD-UK 18 45925045 45925045 single base substitution G A intron_variant ESAD-UK 18 45926101 45926101 single base substitution A G intron_variant ESAD-UK 18 45928330 45928330 insertion of <=200bp - TTCCT intron_variant ESAD-UK 18 45929139 45929139 insertion of <=200bp - A intron_variant ESAD-UK 18 45929378 45929378 single base substitution C G intron_variant ESAD-UK 18 45930020 45930020 single base substitution T C intron_variant ESAD-UK 18 45932619 45932619 single base substitution G T intron_variant ESAD-UK 18 45933536 45933536 single base substitution G C intron_variant ESAD-UK 18 45936117 45936117 single base substitution G T intron_variant ESAD-UK 18 45936117 45936117 single base substitution G T upstream_gene_variant ESAD-UK 18 45937428 45937428 insertion of <=200bp - A upstream_gene_variant ESAD-UK 18 45937470 45937470 single base substitution T C upstream_gene_variant ESAD-UK 18 45939425 45939425 single base substitution C A upstream_gene_variant ESAD-UK 18 45941050 45941050 single base substitution T C upstream_gene_variant ESCA-CN 18 45555834 45555834 single base substitution C A stop_gained E553* 1657G>T ESCA-CN 18 45566816 45566816 single base substitution C A downstream_gene_variant ESCA-CN 18 45566816 45566816 single base substitution C A synonymous_variant V221V 663G>T ESCA-CN 18 45567028 45567028 single base substitution C G downstream_gene_variant ESCA-CN 18 45567028 45567028 single base substitution C G missense_variant E151Q 451G>C GACA-CN 18 45567192 45567192 single base substitution G A downstream_gene_variant GACA-CN 18 45567192 45567192 single base substitution G A missense_variant T96M 287C>T GBM-US 18 45566526 45566526 single base substitution G A downstream_gene_variant GBM-US 18 45566526 45566526 single base substitution G A missense_variant P318L 953C>T GBM-US 18 45567452 45567452 single base substitution A G synonymous_variant I9I 27T>C KIRC-US 18 45567044 45567044 single base substitution G A downstream_gene_variant KIRC-US 18 45567044 45567044 single base substitution G A synonymous_variant D145D 435C>T LAML-KR 18 45642960 45642960 single base substitution G A intron_variant LAML-KR 18 45666325 45666325 single base substitution C T intron_variant LAML-KR 18 45666325 45666325 single base substitution C T upstream_gene_variant LAML-KR 18 45706519 45706519 single base substitution T C intron_variant LAML-KR 18 45799185 45799185 single base substitution G T intron_variant LAML-KR 18 45843316 45843316 single base substitution G A intron_variant LICA-FR 18 45573523 45573523 single base substitution C A intron_variant LICA-FR 18 45581102 45581102 single base substitution C T intron_variant LICA-FR 18 45585427 45585427 single base substitution G A intron_variant LICA-FR 18 45651957 45651970 deletion of <=200bp TGGCCATAACAATA - intron_variant LICA-FR 18 45693949 45693949 single base substitution G T intron_variant LICA-FR 18 45693949 45693949 single base substitution G T upstream_gene_variant LICA-FR 18 45700700 45700700 single base substitution A G intron_variant LICA-FR 18 45703582 45703582 single base substitution C A intron_variant LICA-FR 18 45716431 45716431 single base substitution C T intron_variant LICA-FR 18 45735000 45735000 single base substitution G C intron_variant LICA-FR 18 45758954 45758954 single base substitution T C intron_variant LICA-FR 18 45780097 45780097 single base substitution C T intron_variant LICA-FR 18 45789258 45789273 deletion of <=200bp CTGCGAGCCAAGAGCA - intron_variant LICA-FR 18 45894614 45894614 deletion of <=200bp A - intron_variant LICA-FR 18 45898934 45898934 single base substitution T C intron_variant LICA-FR 18 45906101 45906128 deletion of <=200bp AAAAAAGACATGTATCCAAAATATTCAA - intron_variant LICA-FR 18 45906101 45906128 deletion of <=200bp AAAAAAGACATGTATCCAAAATATTCAA - upstream_gene_variant LICA-FR 18 45937485 45937485 single base substitution A G upstream_gene_variant LICA-FR 18 45941871 45941871 deletion of <=200bp T - upstream_gene_variant LIHC-US 18 45555810 45555810 single base substitution G A missense_variant R561C 1681C>T LINC-JP 18 45555819 45555819 single base substitution G C missense_variant L558V 1672C>G LINC-JP 18 45561459 45561459 single base substitution T C intron_variant LINC-JP 18 45566764 45566764 single base substitution C A downstream_gene_variant LINC-JP 18 45566764 45566764 single base substitution C A missense_variant A239S 715G>T LINC-JP 18 45567076 45567076 deletion of <=200bp C - downstream_gene_variant LINC-JP 18 45567076 45567076 deletion of <=200bp C - frameshift_variant E135 LINC-JP 18 45568118 45568118 single base substitution A T intron_variant LINC-JP 18 45568118 45568118 single base substitution A T upstream_gene_variant LINC-JP 18 45581455 45581455 single base substitution T C intron_variant LINC-JP 18 45585034 45585034 single base substitution G A intron_variant LINC-JP 18 45607462 45607462 single base substitution G A intron_variant LINC-JP 18 45620010 45620010 single base substitution G T intron_variant LINC-JP 18 45623875 45623875 single base substitution C T intron_variant LINC-JP 18 45647784 45647784 single base substitution T A intron_variant LINC-JP 18 45655723 45655723 deletion of <=200bp A - intron_variant LINC-JP 18 45706461 45706461 single base substitution C T intron_variant LINC-JP 18 45706468 45706468 single base substitution C T intron_variant LINC-JP 18 45706470 45706470 single base substitution T C intron_variant LINC-JP 18 45706481 45706481 single base substitution C T intron_variant LINC-JP 18 45707800 45707800 deletion of <=200bp A - intron_variant LINC-JP 18 45708553 45708553 insertion of <=200bp - T intron_variant LINC-JP 18 45747107 45747107 single base substitution C T intron_variant LINC-JP 18 45754808 45754808 single base substitution T A intron_variant LINC-JP 18 45754809 45754809 single base substitution A T intron_variant LINC-JP 18 45755064 45755064 single base substitution C T intron_variant LINC-JP 18 45755782 45755782 single base substitution C T intron_variant LINC-JP 18 45769611 45769611 single base substitution G A intron_variant LINC-JP 18 45809964 45809964 single base substitution T C intron_variant LINC-JP 18 45820538 45820538 single base substitution G A intron_variant LINC-JP 18 45820589 45820589 single base substitution T C intron_variant LINC-JP 18 45855079 45855079 single base substitution C T intron_variant LINC-JP 18 45870890 45870890 deletion of <=200bp A - intron_variant LINC-JP 18 45891223 45891223 single base substitution A C intron_variant LINC-JP 18 45904217 45904217 single base substitution T C intron_variant LINC-JP 18 45904217 45904217 single base substitution T C upstream_gene_variant LINC-JP 18 45904949 45904949 single base substitution T C intron_variant LINC-JP 18 45904949 45904949 single base substitution T C upstream_gene_variant LINC-JP 18 45922189 45922189 single base substitution T C intron_variant LINC-JP 18 45938474 45938474 single base substitution A G upstream_gene_variant LIRI-JP 18 45549471 45549471 single base substitution C T downstream_gene_variant LIRI-JP 18 45550532 45550532 single base substitution C T downstream_gene_variant LIRI-JP 18 45551251 45551251 single base substitution T C downstream_gene_variant LIRI-JP 18 45552148 45552148 single base substitution G C downstream_gene_variant LIRI-JP 18 45556159 45556159 single base substitution G A synonymous_variant G444G 1332C>T LIRI-JP 18 45557676 45557676 single base substitution C T intron_variant LIRI-JP 18 45559280 45559280 single base substitution T C intron_variant LIRI-JP 18 45559589 45559589 single base substitution T C intron_variant LIRI-JP 18 45561419 45561419 single base substitution G T intron_variant LIRI-JP 18 45562302 45562302 single base substitution A G downstream_gene_variant LIRI-JP 18 45562302 45562302 single base substitution A G intron_variant LIRI-JP 18 45562363 45562363 single base substitution G T downstream_gene_variant LIRI-JP 18 45562363 45562363 single base substitution G T intron_variant LIRI-JP 18 45562825 45562825 single base substitution G A downstream_gene_variant LIRI-JP 18 45562825 45562825 single base substitution G A intron_variant LIRI-JP 18 45565430 45565430 single base substitution C T downstream_gene_variant LIRI-JP 18 45565430 45565430 single base substitution C T intron_variant LIRI-JP 18 45567020 45567020 single base substitution G C downstream_gene_variant LIRI-JP 18 45567020 45567020 single base substitution G C missense_variant D153E 459C>G LIRI-JP 18 45568411 45568411 single base substitution T C intron_variant LIRI-JP 18 45568411 45568411 single base substitution T C upstream_gene_variant LIRI-JP 18 45568749 45568779 deletion of <=200bp TCTAGATAAATCCTAGCAAAGCCCTGGCCCT - intron_variant LIRI-JP 18 45568749 45568779 deletion of <=200bp TCTAGATAAATCCTAGCAAAGCCCTGGCCCT - upstream_gene_variant LIRI-JP 18 45573544 45573544 single base substitution T A intron_variant LIRI-JP 18 45574082 45574082 single base substitution G C intron_variant LIRI-JP 18 45576686 45576686 single base substitution G T intron_variant LIRI-JP 18 45576856 45576856 single base substitution T C intron_variant LIRI-JP 18 45579127 45579127 single base substitution G A intron_variant LIRI-JP 18 45582259 45582259 deletion of <=200bp C - intron_variant LIRI-JP 18 45585609 45585609 single base substitution A G intron_variant LIRI-JP 18 45587108 45587108 single base substitution T G intron_variant LIRI-JP 18 45587907 45587907 single base substitution A C intron_variant LIRI-JP 18 45589655 45589655 single base substitution G C intron_variant LIRI-JP 18 45589807 45589807 single base substitution G T intron_variant LIRI-JP 18 45595007 45595007 single base substitution C T intron_variant LIRI-JP 18 45595145 45595145 single base substitution T C intron_variant LIRI-JP 18 45597371 45597371 single base substitution C T intron_variant LIRI-JP 18 45600729 45600729 single base substitution A G intron_variant LIRI-JP 18 45601394 45601394 single base substitution G A intron_variant LIRI-JP 18 45601951 45601951 single base substitution C T intron_variant LIRI-JP 18 45606067 45606067 single base substitution G A intron_variant LIRI-JP 18 45606908 45606908 single base substitution G A intron_variant LIRI-JP 18 45607737 45607737 single base substitution T C intron_variant LIRI-JP 18 45608942 45608942 insertion of <=200bp - A intron_variant LIRI-JP 18 45609261 45609261 single base substitution G A intron_variant LIRI-JP 18 45610523 45610523 single base substitution C G intron_variant LIRI-JP 18 45611451 45611451 single base substitution G A intron_variant LIRI-JP 18 45614563 45614563 single base substitution T A intron_variant LIRI-JP 18 45614564 45614564 single base substitution C G intron_variant LIRI-JP 18 45616497 45616497 single base substitution G A intron_variant LIRI-JP 18 45616745 45616745 single base substitution G T intron_variant LIRI-JP 18 45617941 45617941 single base substitution T C intron_variant LIRI-JP 18 45619704 45619704 single base substitution G A intron_variant LIRI-JP 18 45621321 45621321 single base substitution T A intron_variant LIRI-JP 18 45622437 45622437 single base substitution G A intron_variant LIRI-JP 18 45622453 45622453 single base substitution G C intron_variant LIRI-JP 18 45625136 45625136 single base substitution A C intron_variant LIRI-JP 18 45625963 45625963 single base substitution G A intron_variant LIRI-JP 18 45627287 45627287 single base substitution G A intron_variant LIRI-JP 18 45628661 45628661 single base substitution G A intron_variant LIRI-JP 18 45628737 45628737 single base substitution C G intron_variant LIRI-JP 18 45628804 45628804 single base substitution T C intron_variant LIRI-JP 18 45629298 45629298 single base substitution T C intron_variant LIRI-JP 18 45630531 45630531 single base substitution G A intron_variant LIRI-JP 18 45634872 45634872 single base substitution T C intron_variant LIRI-JP 18 45635642 45635642 single base substitution G A intron_variant LIRI-JP 18 45638798 45638798 single base substitution A G intron_variant LIRI-JP 18 45639025 45639025 single base substitution T C intron_variant LIRI-JP 18 45639547 45639547 single base substitution A G intron_variant LIRI-JP 18 45640544 45640544 single base substitution G A intron_variant LIRI-JP 18 45642506 45642506 single base substitution C T intron_variant LIRI-JP 18 45644533 45644533 single base substitution C T intron_variant LIRI-JP 18 45653210 45653210 insertion of <=200bp - ATGACTTCT intron_variant LIRI-JP 18 45658084 45658084 single base substitution T C intron_variant LIRI-JP 18 45660810 45660810 single base substitution G T intron_variant LIRI-JP 18 45664168 45664168 single base substitution G A intron_variant LIRI-JP 18 45664168 45664168 single base substitution G A upstream_gene_variant LIRI-JP 18 45664443 45664443 single base substitution A T intron_variant LIRI-JP 18 45664443 45664443 single base substitution A T upstream_gene_variant LIRI-JP 18 45666295 45666295 single base substitution C T intron_variant LIRI-JP 18 45666295 45666295 single base substitution C T upstream_gene_variant LIRI-JP 18 45667115 45667115 single base substitution C A intron_variant LIRI-JP 18 45667115 45667115 single base substitution C A upstream_gene_variant LIRI-JP 18 45672994 45672994 single base substitution G A intron_variant LIRI-JP 18 45675874 45675874 single base substitution G A intron_variant LIRI-JP 18 45677480 45677480 single base substitution C T intron_variant LIRI-JP 18 45679260 45679260 single base substitution A T intron_variant LIRI-JP 18 45680330 45680330 single base substitution G C intron_variant LIRI-JP 18 45680409 45680409 single base substitution T C intron_variant LIRI-JP 18 45682941 45682941 single base substitution C T intron_variant LIRI-JP 18 45684693 45684693 single base substitution C G intron_variant LIRI-JP 18 45685092 45685092 single base substitution G A intron_variant LIRI-JP 18 45688791 45688791 single base substitution G A intron_variant LIRI-JP 18 45698546 45698546 single base substitution G A intron_variant LIRI-JP 18 45699559 45699559 single base substitution C A intron_variant LIRI-JP 18 45700750 45700750 single base substitution A G intron_variant LIRI-JP 18 45702728 45702728 single base substitution A C intron_variant LIRI-JP 18 45703946 45703946 single base substitution A G intron_variant LIRI-JP 18 45705518 45705518 single base substitution A G intron_variant LIRI-JP 18 45707739 45707739 single base substitution G A intron_variant LIRI-JP 18 45707883 45707883 single base substitution A G intron_variant LIRI-JP 18 45708538 45708538 single base substitution T A intron_variant LIRI-JP 18 45708694 45708694 single base substitution A G intron_variant LIRI-JP 18 45708779 45708779 single base substitution A C intron_variant LIRI-JP 18 45709123 45709123 single base substitution T G intron_variant LIRI-JP 18 45716379 45716379 single base substitution G T intron_variant LIRI-JP 18 45716505 45716505 single base substitution G A intron_variant LIRI-JP 18 45719785 45719785 single base substitution T C intron_variant LIRI-JP 18 45719975 45719975 single base substitution T G intron_variant LIRI-JP 18 45721366 45721366 single base substitution G A intron_variant LIRI-JP 18 45723874 45723874 single base substitution T C intron_variant LIRI-JP 18 45729440 45729440 single base substitution G T intron_variant LIRI-JP 18 45730327 45730327 single base substitution T A intron_variant LIRI-JP 18 45730327 45730327 single base substitution T A upstream_gene_variant LIRI-JP 18 45731287 45731287 single base substitution C T intron_variant LIRI-JP 18 45731287 45731287 single base substitution C T upstream_gene_variant LIRI-JP 18 45733221 45733221 single base substitution A T intron_variant LIRI-JP 18 45733221 45733221 single base substitution A T upstream_gene_variant LIRI-JP 18 45734967 45734967 single base substitution C T intron_variant LIRI-JP 18 45734967 45734967 single base substitution C T upstream_gene_variant LIRI-JP 18 45740295 45740295 single base substitution C T intron_variant LIRI-JP 18 45742376 45742376 single base substitution C T intron_variant LIRI-JP 18 45744538 45744538 single base substitution T G intron_variant LIRI-JP 18 45746905 45746905 single base substitution T C intron_variant LIRI-JP 18 45748771 45748771 single base substitution A G intron_variant LIRI-JP 18 45750071 45750071 single base substitution C T intron_variant LIRI-JP 18 45752242 45752242 single base substitution T C intron_variant LIRI-JP 18 45753520 45753520 single base substitution C A intron_variant LIRI-JP 18 45759597 45759597 single base substitution C T intron_variant LIRI-JP 18 45759865 45759865 single base substitution C T intron_variant LIRI-JP 18 45760602 45760602 single base substitution C T intron_variant LIRI-JP 18 45761467 45761467 single base substitution C T intron_variant LIRI-JP 18 45766357 45766357 single base substitution A G intron_variant LIRI-JP 18 45768998 45768998 single base substitution A G intron_variant LIRI-JP 18 45770909 45770909 single base substitution T C intron_variant LIRI-JP 18 45772271 45772271 single base substitution T G intron_variant LIRI-JP 18 45773612 45773612 single base substitution T C intron_variant LIRI-JP 18 45774851 45774851 single base substitution G A intron_variant LIRI-JP 18 45775095 45775095 single base substitution T A intron_variant LIRI-JP 18 45776986 45776986 single base substitution T C intron_variant LIRI-JP 18 45779351 45779351 single base substitution G A intron_variant LIRI-JP 18 45783276 45783276 single base substitution A G intron_variant LIRI-JP 18 45783608 45783608 single base substitution C G intron_variant LIRI-JP 18 45787084 45787084 single base substitution C A intron_variant LIRI-JP 18 45789391 45789391 single base substitution T A intron_variant LIRI-JP 18 45789557 45789557 single base substitution G T intron_variant LIRI-JP 18 45793767 45793767 single base substitution A G intron_variant LIRI-JP 18 45798939 45798939 single base substitution T C intron_variant LIRI-JP 18 45799365 45799365 single base substitution G A intron_variant LIRI-JP 18 45799506 45799506 single base substitution C T intron_variant LIRI-JP 18 45799930 45799930 single base substitution A T intron_variant LIRI-JP 18 45800585 45800585 single base substitution C G intron_variant LIRI-JP 18 45801768 45801768 single base substitution A T intron_variant LIRI-JP 18 45804138 45804138 single base substitution A G intron_variant LIRI-JP 18 45805119 45805119 single base substitution T C intron_variant LIRI-JP 18 45809262 45809262 single base substitution G T intron_variant LIRI-JP 18 45810647 45810647 single base substitution T C intron_variant LIRI-JP 18 45815503 45815503 single base substitution T A intron_variant LIRI-JP 18 45817050 45817050 single base substitution G A intron_variant LIRI-JP 18 45818107 45818107 single base substitution G C intron_variant LIRI-JP 18 45820660 45820660 single base substitution G T intron_variant LIRI-JP 18 45821394 45821394 single base substitution G C intron_variant LIRI-JP 18 45821861 45821861 single base substitution T C intron_variant LIRI-JP 18 45822239 45822239 single base substitution C T intron_variant LIRI-JP 18 45824295 45824295 single base substitution T C intron_variant LIRI-JP 18 45826215 45826215 single base substitution C T intron_variant LIRI-JP 18 45827173 45827173 single base substitution C A intron_variant LIRI-JP 18 45828297 45828297 single base substitution C G intron_variant LIRI-JP 18 45828662 45828662 single base substitution T C intron_variant LIRI-JP 18 45828801 45828801 single base substitution T C intron_variant LIRI-JP 18 45830820 45830820 single base substitution G A intron_variant LIRI-JP 18 45831266 45831266 single base substitution T C intron_variant LIRI-JP 18 45832447 45832447 single base substitution C A intron_variant LIRI-JP 18 45834998 45834998 single base substitution T C intron_variant LIRI-JP 18 45835219 45835219 single base substitution C A intron_variant LIRI-JP 18 45835465 45835465 single base substitution G C intron_variant LIRI-JP 18 45835503 45835503 single base substitution A G intron_variant LIRI-JP 18 45836488 45836488 single base substitution C T intron_variant LIRI-JP 18 45836895 45836895 single base substitution T A intron_variant LIRI-JP 18 45839025 45839025 single base substitution T C intron_variant LIRI-JP 18 45840213 45840213 single base substitution G A intron_variant LIRI-JP 18 45841826 45841826 single base substitution C A intron_variant LIRI-JP 18 45842516 45842520 deletion of <=200bp TTCCC - intron_variant LIRI-JP 18 45844935 45844935 single base substitution G C intron_variant LIRI-JP 18 45847872 45847872 single base substitution C T intron_variant LIRI-JP 18 45848237 45848237 single base substitution C T intron_variant LIRI-JP 18 45850016 45850016 single base substitution T C intron_variant LIRI-JP 18 45850405 45850405 single base substitution C T intron_variant LIRI-JP 18 45852419 45852419 single base substitution G A intron_variant LIRI-JP 18 45853196 45853196 single base substitution G A intron_variant LIRI-JP 18 45854725 45854725 single base substitution T C intron_variant LIRI-JP 18 45855554 45855554 single base substitution G A intron_variant LIRI-JP 18 45855565 45855565 single base substitution T G intron_variant LIRI-JP 18 45855578 45855578 single base substitution A G intron_variant LIRI-JP 18 45857455 45857455 single base substitution G T intron_variant LIRI-JP 18 45858399 45858399 single base substitution C A intron_variant LIRI-JP 18 45858745 45858745 insertion of <=200bp - T intron_variant LIRI-JP 18 45858994 45858994 single base substitution A G intron_variant LIRI-JP 18 45859618 45859618 single base substitution T G intron_variant LIRI-JP 18 45860329 45860329 single base substitution T A intron_variant LIRI-JP 18 45863158 45863158 single base substitution C A intron_variant LIRI-JP 18 45870857 45870857 single base substitution G C intron_variant LIRI-JP 18 45871367 45871367 single base substitution T A intron_variant LIRI-JP 18 45873899 45873899 single base substitution C A intron_variant LIRI-JP 18 45877257 45877257 single base substitution G A intron_variant LIRI-JP 18 45879039 45879039 single base substitution A G intron_variant LIRI-JP 18 45880786 45880786 single base substitution A C intron_variant LIRI-JP 18 45883263 45883263 single base substitution G T intron_variant LIRI-JP 18 45886175 45886175 single base substitution C T intron_variant LIRI-JP 18 45886686 45886686 single base substitution T C intron_variant LIRI-JP 18 45889046 45889046 single base substitution T G intron_variant LIRI-JP 18 45889273 45889273 single base substitution G T intron_variant LIRI-JP 18 45890675 45890675 single base substitution C T intron_variant LIRI-JP 18 45893747 45893747 single base substitution T A intron_variant LIRI-JP 18 45896107 45896107 single base substitution C T intron_variant LIRI-JP 18 45896928 45896928 single base substitution C T intron_variant LIRI-JP 18 45899946 45899946 single base substitution G A intron_variant LIRI-JP 18 45904207 45904207 single base substitution C A intron_variant LIRI-JP 18 45904207 45904207 single base substitution C A upstream_gene_variant LIRI-JP 18 45904368 45904368 single base substitution C T intron_variant LIRI-JP 18 45904368 45904368 single base substitution C T upstream_gene_variant LIRI-JP 18 45906395 45906395 single base substitution A G intron_variant LIRI-JP 18 45906395 45906395 single base substitution A G upstream_gene_variant LIRI-JP 18 45910069 45910069 single base substitution G C intron_variant LIRI-JP 18 45910493 45910493 single base substitution G A intron_variant LIRI-JP 18 45910523 45910523 single base substitution A G intron_variant LIRI-JP 18 45916634 45916634 single base substitution A G intron_variant LIRI-JP 18 45916765 45916765 single base substitution G T intron_variant LIRI-JP 18 45924529 45924529 single base substitution G T intron_variant LIRI-JP 18 45925756 45925756 single base substitution T A intron_variant LIRI-JP 18 45927639 45927639 single base substitution T G intron_variant LIRI-JP 18 45928795 45928795 single base substitution A G intron_variant LIRI-JP 18 45930579 45930579 single base substitution T G intron_variant LIRI-JP 18 45931663 45931663 single base substitution G C intron_variant LIRI-JP 18 45933120 45933120 single base substitution C T intron_variant LIRI-JP 18 45937261 45937261 single base substitution G A upstream_gene_variant LIRI-JP 18 45937859 45937859 single base substitution T C upstream_gene_variant LIRI-JP 18 45940009 45940009 single base substitution G C upstream_gene_variant LIRI-JP 18 45941703 45941703 single base substitution T A upstream_gene_variant LUSC-KR 18 45551601 45551601 single base substitution C T downstream_gene_variant LUSC-KR 18 45553818 45553818 single base substitution G T 3_prime_UTR_variant LUSC-KR 18 45557525 45557525 single base substitution T A intron_variant LUSC-KR 18 45571915 45571915 single base substitution A G intron_variant LUSC-KR 18 45571915 45571915 single base substitution A G upstream_gene_variant LUSC-KR 18 45580055 45580055 single base substitution G A intron_variant LUSC-KR 18 45581350 45581350 single base substitution C T intron_variant LUSC-KR 18 45581609 45581609 single base substitution C A intron_variant LUSC-KR 18 45585874 45585874 single base substitution C A intron_variant LUSC-KR 18 45586457 45586457 single base substitution G A intron_variant LUSC-KR 18 45588170 45588170 single base substitution C A intron_variant LUSC-KR 18 45588763 45588763 single base substitution T C intron_variant LUSC-KR 18 45589813 45589813 single base substitution C A intron_variant LUSC-KR 18 45591710 45591710 single base substitution A T intron_variant LUSC-KR 18 45595428 45595428 single base substitution C A intron_variant LUSC-KR 18 45595460 45595460 single base substitution T A intron_variant LUSC-KR 18 45595991 45595991 single base substitution C A intron_variant LUSC-KR 18 45595999 45595999 single base substitution T C intron_variant LUSC-KR 18 45599177 45599177 single base substitution G C intron_variant LUSC-KR 18 45599928 45599928 single base substitution C A intron_variant LUSC-KR 18 45617986 45617986 single base substitution T C intron_variant LUSC-KR 18 45619491 45619491 single base substitution G A intron_variant LUSC-KR 18 45624881 45624881 single base substitution G C intron_variant LUSC-KR 18 45634727 45634727 single base substitution C T intron_variant LUSC-KR 18 45638510 45638510 single base substitution A C intron_variant LUSC-KR 18 45642811 45642811 single base substitution C A intron_variant LUSC-KR 18 45647189 45647189 single base substitution C G intron_variant LUSC-KR 18 45651392 45651392 single base substitution C A intron_variant LUSC-KR 18 45666630 45666630 single base substitution G A intron_variant LUSC-KR 18 45666630 45666630 single base substitution G A upstream_gene_variant LUSC-KR 18 45667626 45667626 single base substitution G A intron_variant LUSC-KR 18 45667626 45667626 single base substitution G A upstream_gene_variant LUSC-KR 18 45674518 45674518 single base substitution C A intron_variant LUSC-KR 18 45675631 45675631 single base substitution G A intron_variant LUSC-KR 18 45676193 45676193 single base substitution G T intron_variant LUSC-KR 18 45678596 45678596 single base substitution C G intron_variant LUSC-KR 18 45679867 45679867 single base substitution G C intron_variant LUSC-KR 18 45679960 45679960 single base substitution T C intron_variant LUSC-KR 18 45680605 45680605 single base substitution G A intron_variant LUSC-KR 18 45680638 45680638 single base substitution G C intron_variant LUSC-KR 18 45680786 45680786 single base substitution G C intron_variant LUSC-KR 18 45683257 45683257 single base substitution T C intron_variant LUSC-KR 18 45693951 45693951 single base substitution G T intron_variant LUSC-KR 18 45693951 45693951 single base substitution G T upstream_gene_variant LUSC-KR 18 45697690 45697690 single base substitution G C intron_variant LUSC-KR 18 45703232 45703232 single base substitution C T intron_variant LUSC-KR 18 45706534 45706534 single base substitution C T intron_variant LUSC-KR 18 45706787 45706787 single base substitution C T 5_prime_UTR_variant LUSC-KR 18 45706787 45706787 single base substitution C T intron_variant LUSC-KR 18 45711940 45711940 single base substitution C T intron_variant LUSC-KR 18 45716976 45716976 single base substitution A C intron_variant LUSC-KR 18 45735588 45735588 single base substitution G A intron_variant LUSC-KR 18 45736758 45736758 single base substitution G T intron_variant LUSC-KR 18 45741790 45741790 single base substitution T G intron_variant LUSC-KR 18 45742484 45742484 single base substitution C A intron_variant LUSC-KR 18 45746586 45746586 single base substitution T A intron_variant LUSC-KR 18 45749721 45749721 single base substitution A T intron_variant LUSC-KR 18 45750314 45750314 single base substitution T G intron_variant LUSC-KR 18 45752045 45752045 single base substitution C T intron_variant LUSC-KR 18 45771171 45771171 single base substitution T A intron_variant LUSC-KR 18 45772981 45772981 single base substitution C G intron_variant LUSC-KR 18 45773520 45773520 single base substitution C T intron_variant LUSC-KR 18 45776891 45776891 single base substitution G T intron_variant LUSC-KR 18 45779956 45779956 single base substitution G T intron_variant LUSC-KR 18 45790572 45790572 single base substitution T C intron_variant LUSC-KR 18 45796161 45796161 single base substitution T C intron_variant LUSC-KR 18 45796391 45796391 single base substitution C A intron_variant LUSC-KR 18 45803164 45803164 single base substitution T C intron_variant LUSC-KR 18 45803221 45803221 single base substitution G A intron_variant LUSC-KR 18 45803315 45803315 single base substitution A G intron_variant LUSC-KR 18 45803394 45803394 single base substitution G A intron_variant LUSC-KR 18 45806726 45806726 single base substitution T C intron_variant LUSC-KR 18 45814031 45814031 single base substitution G A intron_variant LUSC-KR 18 45820040 45820040 single base substitution G T intron_variant LUSC-KR 18 45820739 45820739 single base substitution C T intron_variant LUSC-KR 18 45830655 45830655 single base substitution A G intron_variant LUSC-KR 18 45832585 45832585 single base substitution T A intron_variant LUSC-KR 18 45833899 45833899 single base substitution C G intron_variant LUSC-KR 18 45836973 45836973 single base substitution G C intron_variant LUSC-KR 18 45844299 45844299 single base substitution C T intron_variant LUSC-KR 18 45848042 45848042 single base substitution G T intron_variant LUSC-KR 18 45849032 45849032 single base substitution G A intron_variant LUSC-KR 18 45849773 45849773 single base substitution C A intron_variant LUSC-KR 18 45856271 45856271 single base substitution C A intron_variant LUSC-KR 18 45863689 45863689 single base substitution C A intron_variant LUSC-KR 18 45871809 45871809 single base substitution C T intron_variant LUSC-KR 18 45873520 45873520 single base substitution G T intron_variant LUSC-KR 18 45884537 45884537 single base substitution C A intron_variant LUSC-KR 18 45885688 45885688 single base substitution G T intron_variant LUSC-KR 18 45894420 45894420 single base substitution C G intron_variant LUSC-KR 18 45900780 45900780 single base substitution G A intron_variant LUSC-KR 18 45914010 45914010 single base substitution G A intron_variant LUSC-KR 18 45930859 45930859 single base substitution C A intron_variant LUSC-KR 18 45932056 45932056 single base substitution T C intron_variant LUSC-KR 18 45936058 45936058 single base substitution G C intron_variant LUSC-KR 18 45936058 45936058 single base substitution G C upstream_gene_variant LUSC-KR 18 45936639 45936639 single base substitution G C intron_variant LUSC-KR 18 45936639 45936639 single base substitution G C upstream_gene_variant LUSC-KR 18 45941227 45941227 single base substitution T C upstream_gene_variant MALY-DE 18 45552055 45552055 single base substitution T G downstream_gene_variant MALY-DE 18 45555371 45555371 single base substitution T G 3_prime_UTR_variant MALY-DE 18 45557859 45557859 single base substitution C A intron_variant MALY-DE 18 45567684 45567684 single base substitution T C intron_variant MALY-DE 18 45567684 45567684 single base substitution T C upstream_gene_variant MALY-DE 18 45577991 45577991 single base substitution G A intron_variant MALY-DE 18 45578500 45578500 single base substitution G A intron_variant MALY-DE 18 45589591 45589591 single base substitution C T intron_variant MALY-DE 18 45594373 45594373 single base substitution C A intron_variant MALY-DE 18 45599901 45599901 single base substitution G T intron_variant MALY-DE 18 45607036 45607036 insertion of <=200bp - GGCAC intron_variant MALY-DE 18 45609737 45609737 single base substitution C A intron_variant MALY-DE 18 45613612 45613612 single base substitution A C intron_variant MALY-DE 18 45614653 45614653 single base substitution A C 5_prime_UTR_variant MALY-DE 18 45614653 45614653 single base substitution A C intron_variant MALY-DE 18 45614701 45614701 single base substitution A T 5_prime_UTR_variant MALY-DE 18 45614701 45614701 single base substitution A T intron_variant MALY-DE 18 45617460 45617460 single base substitution T A intron_variant MALY-DE 18 45620760 45620760 single base substitution C G intron_variant MALY-DE 18 45622468 45622468 single base substitution C T intron_variant MALY-DE 18 45623827 45623827 single base substitution G C intron_variant MALY-DE 18 45628715 45628715 single base substitution G A intron_variant MALY-DE 18 45634450 45634450 single base substitution G T intron_variant MALY-DE 18 45635589 45635589 single base substitution G A intron_variant MALY-DE 18 45651835 45651835 single base substitution A T intron_variant MALY-DE 18 45653323 45653323 single base substitution A G intron_variant MALY-DE 18 45656691 45656691 single base substitution A C intron_variant MALY-DE 18 45657554 45657554 single base substitution C T intron_variant MALY-DE 18 45662984 45662984 single base substitution C T intron_variant MALY-DE 18 45663458 45663458 single base substitution G T 5_prime_UTR_variant MALY-DE 18 45663458 45663458 single base substitution G T intron_variant MALY-DE 18 45664186 45664186 single base substitution C A intron_variant MALY-DE 18 45664186 45664186 single base substitution C A upstream_gene_variant MALY-DE 18 45665507 45665507 single base substitution G A intron_variant MALY-DE 18 45665507 45665507 single base substitution G A upstream_gene_variant MALY-DE 18 45666068 45666068 single base substitution G A intron_variant MALY-DE 18 45666068 45666068 single base substitution G A upstream_gene_variant MALY-DE 18 45672665 45672665 single base substitution T G intron_variant MALY-DE 18 45676421 45676421 single base substitution C T intron_variant MALY-DE 18 45679286 45679286 single base substitution G A intron_variant MALY-DE 18 45680021 45680021 single base substitution A C intron_variant MALY-DE 18 45683194 45683194 deletion of <=200bp T - intron_variant MALY-DE 18 45685648 45685648 single base substitution G A intron_variant MALY-DE 18 45686126 45686126 single base substitution T C intron_variant MALY-DE 18 45690373 45690373 single base substitution T A intron_variant MALY-DE 18 45690491 45690491 single base substitution T A intron_variant MALY-DE 18 45690589 45690589 single base substitution A G intron_variant MALY-DE 18 45691852 45691852 single base substitution C T 5_prime_UTR_variant MALY-DE 18 45691852 45691852 single base substitution C T intron_variant MALY-DE 18 45691852 45691852 single base substitution C T upstream_gene_variant MALY-DE 18 45693525 45693525 single base substitution T C intron_variant MALY-DE 18 45693525 45693525 single base substitution T C upstream_gene_variant MALY-DE 18 45698190 45698190 single base substitution A G intron_variant MALY-DE 18 45699417 45699417 single base substitution G A intron_variant MALY-DE 18 45701204 45701204 single base substitution C A intron_variant MALY-DE 18 45703932 45703933 deletion of <=200bp GT - intron_variant MALY-DE 18 45706484 45706484 insertion of <=200bp - TCC intron_variant MALY-DE 18 45707638 45707638 single base substitution C T intron_variant MALY-DE 18 45708344 45708344 single base substitution C T intron_variant MALY-DE 18 45725381 45725381 single base substitution C T intron_variant MALY-DE 18 45730526 45730526 single base substitution G T intron_variant MALY-DE 18 45730526 45730526 single base substitution G T upstream_gene_variant MALY-DE 18 45732492 45732492 single base substitution A G intron_variant MALY-DE 18 45732492 45732492 single base substitution A G upstream_gene_variant MALY-DE 18 45735672 45735672 single base substitution C T intron_variant MALY-DE 18 45739140 45739140 single base substitution A G intron_variant MALY-DE 18 45739292 45739292 single base substitution C G intron_variant MALY-DE 18 45739390 45739390 single base substitution G A intron_variant MALY-DE 18 45739565 45739565 single base substitution C T intron_variant MALY-DE 18 45743702 45743702 single base substitution C T intron_variant MALY-DE 18 45745285 45745285 single base substitution A C intron_variant MALY-DE 18 45746330 45746330 single base substitution C T intron_variant MALY-DE 18 45748212 45748212 single base substitution T G intron_variant MALY-DE 18 45748330 45748330 single base substitution C T intron_variant MALY-DE 18 45754653 45754653 single base substitution G A intron_variant MALY-DE 18 45755761 45755761 deletion of <=200bp A - intron_variant MALY-DE 18 45759708 45759709 deletion of <=200bp TG - intron_variant MALY-DE 18 45760885 45760886 deletion of <=200bp GT - intron_variant MALY-DE 18 45761198 45761198 insertion of <=200bp - T intron_variant MALY-DE 18 45761235 45761235 single base substitution G A intron_variant MALY-DE 18 45767414 45767414 single base substitution G A intron_variant MALY-DE 18 45768114 45768114 single base substitution G A intron_variant MALY-DE 18 45769636 45769636 single base substitution C A intron_variant MALY-DE 18 45770715 45770715 single base substitution G A intron_variant MALY-DE 18 45773687 45773689 deletion of <=200bp AAC - intron_variant MALY-DE 18 45777150 45777150 deletion of <=200bp T - intron_variant MALY-DE 18 45778358 45778358 single base substitution T G intron_variant MALY-DE 18 45778528 45778528 single base substitution T G intron_variant MALY-DE 18 45778528 45778528 single base substitution T G splice_region_variant MALY-DE 18 45781475 45781475 single base substitution G T intron_variant MALY-DE 18 45782532 45782532 single base substitution A C intron_variant MALY-DE 18 45794588 45794588 single base substitution A T intron_variant MALY-DE 18 45801426 45801426 single base substitution C T intron_variant MALY-DE 18 45804101 45804101 single base substitution C A intron_variant MALY-DE 18 45805606 45805606 single base substitution C T intron_variant MALY-DE 18 45809045 45809045 single base substitution A T intron_variant MALY-DE 18 45818939 45818939 single base substitution G A intron_variant MALY-DE 18 45823217 45823217 single base substitution C T intron_variant MALY-DE 18 45833636 45833636 single base substitution C A intron_variant MALY-DE 18 45835485 45835485 single base substitution G C intron_variant MALY-DE 18 45836802 45836802 deletion of <=200bp A - intron_variant MALY-DE 18 45842105 45842105 single base substitution C T intron_variant MALY-DE 18 45846670 45846670 single base substitution G A intron_variant MALY-DE 18 45847892 45847892 single base substitution G A intron_variant MALY-DE 18 45852809 45852810 deletion of <=200bp AC - intron_variant MALY-DE 18 45860033 45860033 single base substitution G A intron_variant MALY-DE 18 45860626 45860626 single base substitution C T intron_variant MALY-DE 18 45866651 45866651 single base substitution A C intron_variant MALY-DE 18 45866651 45866651 single base substitution A C upstream_gene_variant MALY-DE 18 45871752 45871752 single base substitution G C intron_variant MALY-DE 18 45873073 45873073 single base substitution A T intron_variant MALY-DE 18 45873073 45873073 single base substitution A T splice_region_variant MALY-DE 18 45878934 45878934 single base substitution G A intron_variant MALY-DE 18 45880251 45880251 insertion of <=200bp - G intron_variant MALY-DE 18 45881042 45881042 single base substitution G A intron_variant MALY-DE 18 45881913 45881913 single base substitution G A intron_variant MALY-DE 18 45882473 45882473 single base substitution G A intron_variant MALY-DE 18 45883187 45883187 single base substitution G T intron_variant MALY-DE 18 45884206 45884206 single base substitution A C intron_variant MALY-DE 18 45884795 45884795 single base substitution C T intron_variant MALY-DE 18 45887255 45887255 single base substitution G C intron_variant MALY-DE 18 45889072 45889072 single base substitution C T intron_variant MALY-DE 18 45889806 45889806 single base substitution G T intron_variant MALY-DE 18 45890474 45890474 single base substitution G A intron_variant MALY-DE 18 45892992 45892992 single base substitution G T intron_variant MALY-DE 18 45895061 45895061 single base substitution T G intron_variant MALY-DE 18 45895198 45895198 single base substitution G C intron_variant MALY-DE 18 45901858 45901858 single base substitution C T intron_variant MALY-DE 18 45905549 45905549 single base substitution T C intron_variant MALY-DE 18 45905549 45905549 single base substitution T C upstream_gene_variant MALY-DE 18 45907163 45907163 single base substitution T C intron_variant MALY-DE 18 45911164 45911164 single base substitution C T intron_variant MALY-DE 18 45929022 45929022 single base substitution A T intron_variant MALY-DE 18 45933664 45933664 single base substitution C T intron_variant MALY-DE 18 45933875 45933875 insertion of <=200bp - GGGGTGTG intron_variant MALY-DE 18 45939443 45939443 single base substitution C G upstream_gene_variant MALY-DE 18 45940496 45940496 single base substitution T A upstream_gene_variant MALY-DE 18 45941242 45941242 single base substitution G A upstream_gene_variant MALY-DE 18 45941365 45941365 single base substitution A G upstream_gene_variant MALY-DE 18 45942059 45942059 single base substitution G A upstream_gene_variant MELA-AU 18 45548226 45548226 single base substitution G A downstream_gene_variant MELA-AU 18 45548345 45548345 single base substitution G A downstream_gene_variant MELA-AU 18 45548381 45548381 single base substitution G A downstream_gene_variant MELA-AU 18 45548568 45548568 single base substitution C T downstream_gene_variant MELA-AU 18 45548692 45548692 single base substitution G A downstream_gene_variant MELA-AU 18 45549317 45549317 single base substitution G A downstream_gene_variant MELA-AU 18 45549454 45549454 single base substitution G A downstream_gene_variant MELA-AU 18 45549514 45549514 single base substitution G A downstream_gene_variant MELA-AU 18 45549905 45549905 single base substitution G A downstream_gene_variant MELA-AU 18 45550710 45550710 single base substitution G A downstream_gene_variant MELA-AU 18 45550720 45550720 single base substitution C T downstream_gene_variant MELA-AU 18 45550744 45550744 single base substitution C T downstream_gene_variant MELA-AU 18 45550803 45550803 single base substitution G A downstream_gene_variant MELA-AU 18 45550824 45550824 single base substitution C T downstream_gene_variant MELA-AU 18 45550852 45550852 single base substitution G A downstream_gene_variant MELA-AU 18 45551277 45551277 single base substitution G A downstream_gene_variant MELA-AU 18 45551332 45551332 single base substitution C T downstream_gene_variant MELA-AU 18 45551401 45551401 single base substitution G C downstream_gene_variant MELA-AU 18 45551426 45551426 single base substitution G A downstream_gene_variant MELA-AU 18 45551511 45551511 single base substitution C T downstream_gene_variant MELA-AU 18 45551853 45551853 single base substitution C T downstream_gene_variant MELA-AU 18 45552148 45552148 single base substitution G A downstream_gene_variant MELA-AU 18 45552628 45552628 single base substitution C T downstream_gene_variant MELA-AU 18 45553396 45553396 single base substitution G A 3_prime_UTR_variant MELA-AU 18 45553396 45553396 single base substitution G A downstream_gene_variant MELA-AU 18 45553694 45553694 single base substitution A T 3_prime_UTR_variant MELA-AU 18 45553694 45553694 single base substitution A T downstream_gene_variant MELA-AU 18 45554002 45554002 single base substitution C T 3_prime_UTR_variant MELA-AU 18 45554390 45554390 single base substitution C T 3_prime_UTR_variant MELA-AU 18 45554501 45554501 single base substitution C T 3_prime_UTR_variant MELA-AU 18 45554855 45554855 single base substitution G A 3_prime_UTR_variant MELA-AU 18 45555481 45555481 single base substitution G A 3_prime_UTR_variant MELA-AU 18 45555525 45555525 single base substitution C T 3_prime_UTR_variant MELA-AU 18 45555703 45555704 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant A596V 1787CC>TT MELA-AU 18 45555741 45555742 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant AA583AT MELA-AU 18 45555795 45555795 single base substitution C T missense_variant A566T 1696G>A MELA-AU 18 45556191 45556191 single base substitution C T missense_variant D434N 1300G>A MELA-AU 18 45556491 45556491 single base substitution A T intron_variant MELA-AU 18 45556570 45556570 single base substitution G A intron_variant MELA-AU 18 45556756 45556756 single base substitution C T intron_variant MELA-AU 18 45557386 45557387 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45557387 45557387 single base substitution C T intron_variant MELA-AU 18 45557611 45557611 single base substitution G A intron_variant MELA-AU 18 45557734 45557734 single base substitution G A intron_variant MELA-AU 18 45557754 45557754 single base substitution C T intron_variant MELA-AU 18 45557755 45557755 single base substitution C T intron_variant MELA-AU 18 45557961 45557961 single base substitution C T intron_variant MELA-AU 18 45558047 45558047 single base substitution G A intron_variant MELA-AU 18 45558348 45558348 single base substitution G A intron_variant MELA-AU 18 45558570 45558570 single base substitution C T intron_variant MELA-AU 18 45559045 45559045 single base substitution G A intron_variant MELA-AU 18 45559358 45559358 single base substitution G A intron_variant MELA-AU 18 45559820 45559820 single base substitution C G intron_variant MELA-AU 18 45559864 45559864 single base substitution G A intron_variant MELA-AU 18 45560367 45560367 single base substitution C T intron_variant MELA-AU 18 45560560 45560560 single base substitution C T intron_variant MELA-AU 18 45560587 45560587 single base substitution G A intron_variant MELA-AU 18 45561285 45561285 single base substitution C T intron_variant MELA-AU 18 45561896 45561897 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45562176 45562176 single base substitution C T intron_variant MELA-AU 18 45562188 45562188 single base substitution G A intron_variant MELA-AU 18 45562540 45562540 single base substitution G A downstream_gene_variant MELA-AU 18 45562540 45562540 single base substitution G A intron_variant MELA-AU 18 45562720 45562720 single base substitution G A downstream_gene_variant MELA-AU 18 45562720 45562720 single base substitution G A intron_variant MELA-AU 18 45562735 45562735 single base substitution C T downstream_gene_variant MELA-AU 18 45562735 45562735 single base substitution C T intron_variant MELA-AU 18 45562839 45562840 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 45562839 45562840 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45562907 45562907 single base substitution G A downstream_gene_variant MELA-AU 18 45562907 45562907 single base substitution G A intron_variant MELA-AU 18 45562908 45562908 single base substitution G A downstream_gene_variant MELA-AU 18 45562908 45562908 single base substitution G A intron_variant MELA-AU 18 45562920 45562920 single base substitution G A downstream_gene_variant MELA-AU 18 45562920 45562920 single base substitution G A intron_variant MELA-AU 18 45562965 45562965 single base substitution G A downstream_gene_variant MELA-AU 18 45562965 45562965 single base substitution G A intron_variant MELA-AU 18 45563239 45563239 single base substitution G A downstream_gene_variant MELA-AU 18 45563239 45563239 single base substitution G A intron_variant MELA-AU 18 45563348 45563348 single base substitution C T downstream_gene_variant MELA-AU 18 45563348 45563348 single base substitution C T intron_variant MELA-AU 18 45563367 45563367 single base substitution G A downstream_gene_variant MELA-AU 18 45563367 45563367 single base substitution G A intron_variant MELA-AU 18 45563466 45563466 single base substitution C T downstream_gene_variant MELA-AU 18 45563466 45563466 single base substitution C T intron_variant MELA-AU 18 45563560 45563560 single base substitution G A downstream_gene_variant MELA-AU 18 45563560 45563560 single base substitution G A intron_variant MELA-AU 18 45563711 45563711 single base substitution G A downstream_gene_variant MELA-AU 18 45563711 45563711 single base substitution G A intron_variant MELA-AU 18 45563770 45563770 single base substitution G A downstream_gene_variant MELA-AU 18 45563770 45563770 single base substitution G A intron_variant MELA-AU 18 45563993 45563993 single base substitution G A downstream_gene_variant MELA-AU 18 45563993 45563993 single base substitution G A intron_variant MELA-AU 18 45564164 45564164 single base substitution G A downstream_gene_variant MELA-AU 18 45564164 45564164 single base substitution G A intron_variant MELA-AU 18 45564250 45564250 single base substitution A G downstream_gene_variant MELA-AU 18 45564250 45564250 single base substitution A G intron_variant MELA-AU 18 45564353 45564353 single base substitution C T downstream_gene_variant MELA-AU 18 45564353 45564353 single base substitution C T intron_variant MELA-AU 18 45564361 45564361 single base substitution G A downstream_gene_variant MELA-AU 18 45564361 45564361 single base substitution G A intron_variant MELA-AU 18 45564520 45564520 single base substitution C T downstream_gene_variant MELA-AU 18 45564520 45564520 single base substitution C T intron_variant MELA-AU 18 45564785 45564785 single base substitution C T downstream_gene_variant MELA-AU 18 45564785 45564785 single base substitution C T intron_variant MELA-AU 18 45564834 45564834 single base substitution G A downstream_gene_variant MELA-AU 18 45564834 45564834 single base substitution G A intron_variant MELA-AU 18 45564898 45564898 single base substitution C T downstream_gene_variant MELA-AU 18 45564898 45564898 single base substitution C T intron_variant MELA-AU 18 45564954 45564954 single base substitution C T downstream_gene_variant MELA-AU 18 45564954 45564954 single base substitution C T intron_variant MELA-AU 18 45565359 45565359 single base substitution C T downstream_gene_variant MELA-AU 18 45565359 45565359 single base substitution C T intron_variant MELA-AU 18 45565519 45565519 single base substitution C T downstream_gene_variant MELA-AU 18 45565519 45565519 single base substitution C T intron_variant MELA-AU 18 45565690 45565690 single base substitution C T downstream_gene_variant MELA-AU 18 45565690 45565690 single base substitution C T intron_variant MELA-AU 18 45565895 45565895 single base substitution G A downstream_gene_variant MELA-AU 18 45565895 45565895 single base substitution G A intron_variant MELA-AU 18 45565912 45565912 single base substitution G A downstream_gene_variant MELA-AU 18 45565912 45565912 single base substitution G A intron_variant MELA-AU 18 45565914 45565914 single base substitution G T downstream_gene_variant MELA-AU 18 45565914 45565914 single base substitution G T intron_variant MELA-AU 18 45566123 45566123 single base substitution T G downstream_gene_variant MELA-AU 18 45566123 45566123 single base substitution T G intron_variant MELA-AU 18 45566379 45566379 single base substitution G A downstream_gene_variant MELA-AU 18 45566379 45566379 single base substitution G A missense_variant P367L 1100C>T MELA-AU 18 45566468 45566468 single base substitution G A downstream_gene_variant MELA-AU 18 45566468 45566468 single base substitution G A synonymous_variant F337F 1011C>T MELA-AU 18 45566479 45566479 single base substitution A G downstream_gene_variant MELA-AU 18 45566479 45566479 single base substitution A G missense_variant Y334H 1000T>C MELA-AU 18 45566536 45566536 single base substitution G A downstream_gene_variant MELA-AU 18 45566536 45566536 single base substitution G A missense_variant P315S 943C>T MELA-AU 18 45566564 45566564 single base substitution G A downstream_gene_variant MELA-AU 18 45566564 45566564 single base substitution G A synonymous_variant F305F 915C>T MELA-AU 18 45566602 45566602 single base substitution C T downstream_gene_variant MELA-AU 18 45566602 45566602 single base substitution C T missense_variant E293K 877G>A MELA-AU 18 45566705 45566705 single base substitution G A downstream_gene_variant MELA-AU 18 45566705 45566705 single base substitution G A synonymous_variant H258H 774C>T MELA-AU 18 45566747 45566747 single base substitution C T downstream_gene_variant MELA-AU 18 45566747 45566747 single base substitution C T synonymous_variant R244R 732G>A MELA-AU 18 45566802 45566802 single base substitution G A downstream_gene_variant MELA-AU 18 45566802 45566802 single base substitution G A missense_variant S226F 677C>T MELA-AU 18 45566810 45566810 single base substitution C T downstream_gene_variant MELA-AU 18 45566810 45566810 single base substitution C T synonymous_variant R223R 669G>A MELA-AU 18 45566832 45566832 single base substitution G A downstream_gene_variant MELA-AU 18 45566832 45566832 single base substitution G A missense_variant P216L 647C>T MELA-AU 18 45566868 45566868 single base substitution G A downstream_gene_variant MELA-AU 18 45566868 45566868 single base substitution G A missense_variant P204L 611C>T MELA-AU 18 45567043 45567043 single base substitution C T downstream_gene_variant MELA-AU 18 45567043 45567043 single base substitution C T missense_variant E146K 436G>A MELA-AU 18 45567061 45567062 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 45567061 45567062 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant KE139KK MELA-AU 18 45567122 45567122 single base substitution G A downstream_gene_variant MELA-AU 18 45567122 45567122 single base substitution G A synonymous_variant I119I 357C>T MELA-AU 18 45567523 45567523 single base substitution G A intron_variant MELA-AU 18 45567523 45567523 single base substitution G A upstream_gene_variant MELA-AU 18 45567593 45567593 single base substitution C T intron_variant MELA-AU 18 45567593 45567593 single base substitution C T upstream_gene_variant MELA-AU 18 45567641 45567641 single base substitution C T intron_variant MELA-AU 18 45567641 45567641 single base substitution C T upstream_gene_variant MELA-AU 18 45568004 45568004 single base substitution C T intron_variant MELA-AU 18 45568004 45568004 single base substitution C T upstream_gene_variant MELA-AU 18 45568091 45568091 single base substitution C T intron_variant MELA-AU 18 45568091 45568091 single base substitution C T upstream_gene_variant MELA-AU 18 45568137 45568137 single base substitution C T intron_variant MELA-AU 18 45568137 45568137 single base substitution C T upstream_gene_variant MELA-AU 18 45568291 45568291 single base substitution G A intron_variant MELA-AU 18 45568291 45568291 single base substitution G A upstream_gene_variant MELA-AU 18 45568471 45568471 single base substitution C A intron_variant MELA-AU 18 45568471 45568471 single base substitution C A upstream_gene_variant MELA-AU 18 45568575 45568575 single base substitution C T intron_variant MELA-AU 18 45568575 45568575 single base substitution C T upstream_gene_variant MELA-AU 18 45568828 45568828 single base substitution C T intron_variant MELA-AU 18 45568828 45568828 single base substitution C T upstream_gene_variant MELA-AU 18 45568849 45568849 single base substitution G A intron_variant MELA-AU 18 45568849 45568849 single base substitution G A upstream_gene_variant MELA-AU 18 45568917 45568917 single base substitution G A intron_variant MELA-AU 18 45568917 45568917 single base substitution G A upstream_gene_variant MELA-AU 18 45568987 45568987 single base substitution G A intron_variant MELA-AU 18 45568987 45568987 single base substitution G A upstream_gene_variant MELA-AU 18 45569004 45569004 single base substitution C T intron_variant MELA-AU 18 45569004 45569004 single base substitution C T upstream_gene_variant MELA-AU 18 45569112 45569112 single base substitution C T intron_variant MELA-AU 18 45569112 45569112 single base substitution C T upstream_gene_variant MELA-AU 18 45569259 45569259 single base substitution G A intron_variant MELA-AU 18 45569259 45569259 single base substitution G A upstream_gene_variant MELA-AU 18 45569579 45569579 single base substitution C T intron_variant MELA-AU 18 45569579 45569579 single base substitution C T upstream_gene_variant MELA-AU 18 45569626 45569626 single base substitution G A intron_variant MELA-AU 18 45569626 45569626 single base substitution G A upstream_gene_variant MELA-AU 18 45569635 45569635 single base substitution T A intron_variant MELA-AU 18 45569635 45569635 single base substitution T A upstream_gene_variant MELA-AU 18 45569682 45569682 single base substitution G A intron_variant MELA-AU 18 45569682 45569682 single base substitution G A upstream_gene_variant MELA-AU 18 45569835 45569835 single base substitution G A intron_variant MELA-AU 18 45569835 45569835 single base substitution G A upstream_gene_variant MELA-AU 18 45569839 45569839 single base substitution G A intron_variant MELA-AU 18 45569839 45569839 single base substitution G A upstream_gene_variant MELA-AU 18 45569970 45569970 single base substitution G A intron_variant MELA-AU 18 45569970 45569970 single base substitution G A upstream_gene_variant MELA-AU 18 45570203 45570203 single base substitution G A intron_variant MELA-AU 18 45570203 45570203 single base substitution G A upstream_gene_variant MELA-AU 18 45570204 45570204 single base substitution G A intron_variant MELA-AU 18 45570204 45570204 single base substitution G A upstream_gene_variant MELA-AU 18 45570486 45570486 single base substitution G A intron_variant MELA-AU 18 45570486 45570486 single base substitution G A upstream_gene_variant MELA-AU 18 45570538 45570538 single base substitution T G intron_variant MELA-AU 18 45570538 45570538 single base substitution T G upstream_gene_variant MELA-AU 18 45570540 45570540 single base substitution C T intron_variant MELA-AU 18 45570540 45570540 single base substitution C T upstream_gene_variant MELA-AU 18 45570556 45570556 single base substitution G A intron_variant MELA-AU 18 45570556 45570556 single base substitution G A upstream_gene_variant MELA-AU 18 45570557 45570557 single base substitution G A intron_variant MELA-AU 18 45570557 45570557 single base substitution G A upstream_gene_variant MELA-AU 18 45570631 45570631 single base substitution G A intron_variant MELA-AU 18 45570631 45570631 single base substitution G A upstream_gene_variant MELA-AU 18 45570764 45570764 single base substitution C T intron_variant MELA-AU 18 45570764 45570764 single base substitution C T upstream_gene_variant MELA-AU 18 45570794 45570794 single base substitution C T intron_variant MELA-AU 18 45570794 45570794 single base substitution C T upstream_gene_variant MELA-AU 18 45570847 45570847 single base substitution C T intron_variant MELA-AU 18 45570847 45570847 single base substitution C T upstream_gene_variant MELA-AU 18 45571153 45571153 single base substitution C T intron_variant MELA-AU 18 45571153 45571153 single base substitution C T upstream_gene_variant MELA-AU 18 45571242 45571242 single base substitution C T intron_variant MELA-AU 18 45571242 45571242 single base substitution C T upstream_gene_variant MELA-AU 18 45571625 45571626 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45571625 45571626 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 45571675 45571675 single base substitution C T intron_variant MELA-AU 18 45571675 45571675 single base substitution C T upstream_gene_variant MELA-AU 18 45571897 45571897 single base substitution C T intron_variant MELA-AU 18 45571897 45571897 single base substitution C T upstream_gene_variant MELA-AU 18 45571929 45571929 single base substitution C T intron_variant MELA-AU 18 45571929 45571929 single base substitution C T upstream_gene_variant MELA-AU 18 45571959 45571959 single base substitution C T intron_variant MELA-AU 18 45571959 45571959 single base substitution C T upstream_gene_variant MELA-AU 18 45572179 45572179 single base substitution C T intron_variant MELA-AU 18 45572179 45572179 single base substitution C T upstream_gene_variant MELA-AU 18 45572285 45572285 single base substitution G A intron_variant MELA-AU 18 45572285 45572285 single base substitution G A upstream_gene_variant MELA-AU 18 45572289 45572289 single base substitution C T intron_variant MELA-AU 18 45572289 45572289 single base substitution C T upstream_gene_variant MELA-AU 18 45572392 45572392 single base substitution C T intron_variant MELA-AU 18 45572392 45572392 single base substitution C T upstream_gene_variant MELA-AU 18 45572614 45572614 single base substitution C T intron_variant MELA-AU 18 45572774 45572774 single base substitution G A intron_variant MELA-AU 18 45572858 45572858 single base substitution G A intron_variant MELA-AU 18 45572946 45572946 single base substitution G A intron_variant MELA-AU 18 45572954 45572954 single base substitution C T intron_variant MELA-AU 18 45573144 45573144 single base substitution G A intron_variant MELA-AU 18 45573450 45573450 single base substitution G T intron_variant MELA-AU 18 45573498 45573498 single base substitution C T intron_variant MELA-AU 18 45573546 45573546 single base substitution C T intron_variant MELA-AU 18 45574272 45574272 single base substitution G A intron_variant MELA-AU 18 45574387 45574387 single base substitution C T intron_variant MELA-AU 18 45574388 45574388 single base substitution C T intron_variant MELA-AU 18 45574416 45574416 single base substitution G A intron_variant MELA-AU 18 45574525 45574525 single base substitution G A intron_variant MELA-AU 18 45574591 45574591 single base substitution G A intron_variant MELA-AU 18 45574698 45574698 single base substitution G A intron_variant MELA-AU 18 45575147 45575147 single base substitution G A intron_variant MELA-AU 18 45575186 45575186 single base substitution C T intron_variant MELA-AU 18 45575309 45575310 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 18 45575313 45575313 single base substitution G A intron_variant MELA-AU 18 45575482 45575482 single base substitution G A intron_variant MELA-AU 18 45575775 45575775 single base substitution C T intron_variant MELA-AU 18 45576104 45576104 single base substitution G A intron_variant MELA-AU 18 45576195 45576195 single base substitution T G intron_variant MELA-AU 18 45576204 45576204 single base substitution G A intron_variant MELA-AU 18 45576333 45576333 single base substitution C T intron_variant MELA-AU 18 45576343 45576343 single base substitution C T intron_variant MELA-AU 18 45576462 45576462 single base substitution G A intron_variant MELA-AU 18 45576502 45576502 single base substitution C T intron_variant MELA-AU 18 45576570 45576570 single base substitution C T intron_variant MELA-AU 18 45576636 45576636 single base substitution C T intron_variant MELA-AU 18 45577241 45577241 single base substitution C T intron_variant MELA-AU 18 45577327 45577327 single base substitution G A intron_variant MELA-AU 18 45577429 45577429 single base substitution C T intron_variant MELA-AU 18 45577509 45577509 single base substitution C T intron_variant MELA-AU 18 45577571 45577571 single base substitution G A intron_variant MELA-AU 18 45577764 45577764 single base substitution T G intron_variant MELA-AU 18 45577839 45577839 single base substitution C T intron_variant MELA-AU 18 45577901 45577901 single base substitution G A intron_variant MELA-AU 18 45578556 45578556 single base substitution C T intron_variant MELA-AU 18 45578661 45578661 single base substitution G A intron_variant MELA-AU 18 45578763 45578763 single base substitution C T intron_variant MELA-AU 18 45578944 45578944 single base substitution G A intron_variant MELA-AU 18 45578945 45578945 single base substitution G A intron_variant MELA-AU 18 45579168 45579168 single base substitution G A intron_variant MELA-AU 18 45579349 45579349 single base substitution C T intron_variant MELA-AU 18 45579498 45579498 single base substitution T C intron_variant MELA-AU 18 45579540 45579540 single base substitution G A intron_variant MELA-AU 18 45579751 45579751 single base substitution G A intron_variant MELA-AU 18 45579839 45579839 single base substitution T C intron_variant MELA-AU 18 45579852 45579852 single base substitution C T intron_variant MELA-AU 18 45579913 45579913 single base substitution C T intron_variant MELA-AU 18 45579976 45579976 single base substitution G A intron_variant MELA-AU 18 45580026 45580026 single base substitution T G intron_variant MELA-AU 18 45580193 45580193 single base substitution C T intron_variant MELA-AU 18 45580328 45580328 single base substitution G A intron_variant MELA-AU 18 45580428 45580428 single base substitution C T intron_variant MELA-AU 18 45580445 45580445 single base substitution G A intron_variant MELA-AU 18 45580515 45580515 single base substitution G A intron_variant MELA-AU 18 45580530 45580530 single base substitution C T intron_variant MELA-AU 18 45580545 45580545 single base substitution C T intron_variant MELA-AU 18 45580557 45580557 single base substitution G A intron_variant MELA-AU 18 45580777 45580777 single base substitution C T intron_variant MELA-AU 18 45581107 45581107 single base substitution C T intron_variant MELA-AU 18 45581992 45581992 single base substitution C T intron_variant MELA-AU 18 45582400 45582400 single base substitution A T intron_variant MELA-AU 18 45582490 45582490 single base substitution G A intron_variant MELA-AU 18 45582530 45582530 single base substitution G A intron_variant MELA-AU 18 45582704 45582704 single base substitution C T intron_variant MELA-AU 18 45582729 45582729 single base substitution G A intron_variant MELA-AU 18 45582779 45582779 single base substitution G A intron_variant MELA-AU 18 45582828 45582828 single base substitution C T intron_variant MELA-AU 18 45582858 45582858 single base substitution A T intron_variant MELA-AU 18 45582939 45582939 single base substitution G A intron_variant MELA-AU 18 45582953 45582953 single base substitution C T intron_variant MELA-AU 18 45583022 45583022 single base substitution T A intron_variant MELA-AU 18 45583190 45583190 single base substitution G A intron_variant MELA-AU 18 45583283 45583283 single base substitution A C intron_variant MELA-AU 18 45583287 45583287 single base substitution C T intron_variant MELA-AU 18 45583662 45583662 single base substitution G A intron_variant MELA-AU 18 45583970 45583970 single base substitution C T intron_variant MELA-AU 18 45583999 45583999 single base substitution C T intron_variant MELA-AU 18 45584157 45584157 single base substitution G A intron_variant MELA-AU 18 45584516 45584516 single base substitution G A intron_variant MELA-AU 18 45584897 45584897 single base substitution C T intron_variant MELA-AU 18 45585014 45585014 single base substitution C T intron_variant MELA-AU 18 45585433 45585433 single base substitution G A intron_variant MELA-AU 18 45585523 45585523 single base substitution C T intron_variant MELA-AU 18 45585665 45585665 single base substitution G A intron_variant MELA-AU 18 45586019 45586019 single base substitution C T intron_variant MELA-AU 18 45586377 45586377 single base substitution G A intron_variant MELA-AU 18 45586415 45586415 single base substitution G A intron_variant MELA-AU 18 45586501 45586501 single base substitution C T intron_variant MELA-AU 18 45586502 45586502 single base substitution C T intron_variant MELA-AU 18 45586544 45586544 single base substitution C T intron_variant MELA-AU 18 45586565 45586565 single base substitution G A intron_variant MELA-AU 18 45586625 45586625 single base substitution G A intron_variant MELA-AU 18 45587018 45587018 single base substitution T A intron_variant MELA-AU 18 45587059 45587059 single base substitution G A intron_variant MELA-AU 18 45587181 45587181 single base substitution G A intron_variant MELA-AU 18 45587245 45587245 single base substitution G A intron_variant MELA-AU 18 45587446 45587446 single base substitution T C intron_variant MELA-AU 18 45587643 45587643 single base substitution C T intron_variant MELA-AU 18 45587655 45587655 single base substitution C T intron_variant MELA-AU 18 45587656 45587656 single base substitution C T intron_variant MELA-AU 18 45587815 45587815 single base substitution C T intron_variant MELA-AU 18 45587846 45587846 single base substitution C T intron_variant MELA-AU 18 45587992 45587992 single base substitution G A intron_variant MELA-AU 18 45588003 45588003 single base substitution C T intron_variant MELA-AU 18 45588085 45588085 single base substitution C T intron_variant MELA-AU 18 45588110 45588110 single base substitution G A intron_variant MELA-AU 18 45588121 45588121 single base substitution C T intron_variant MELA-AU 18 45588167 45588167 single base substitution G A intron_variant MELA-AU 18 45588231 45588231 single base substitution G A intron_variant MELA-AU 18 45588284 45588284 single base substitution G A intron_variant MELA-AU 18 45588606 45588606 single base substitution C T intron_variant MELA-AU 18 45588636 45588636 single base substitution G A intron_variant MELA-AU 18 45589158 45589158 single base substitution G A intron_variant MELA-AU 18 45589428 45589428 single base substitution C T intron_variant MELA-AU 18 45589444 45589444 single base substitution C T intron_variant MELA-AU 18 45589494 45589494 single base substitution C T intron_variant MELA-AU 18 45589669 45589669 single base substitution G A intron_variant MELA-AU 18 45589737 45589737 single base substitution C T intron_variant MELA-AU 18 45589759 45589759 insertion of <=200bp - TA intron_variant MELA-AU 18 45589802 45589802 single base substitution C T intron_variant MELA-AU 18 45589819 45589819 single base substitution G A intron_variant MELA-AU 18 45589873 45589873 single base substitution G A intron_variant MELA-AU 18 45590013 45590013 single base substitution A G intron_variant MELA-AU 18 45590323 45590323 single base substitution G A intron_variant MELA-AU 18 45590481 45590481 single base substitution C T intron_variant MELA-AU 18 45590660 45590660 single base substitution C T intron_variant MELA-AU 18 45590665 45590665 single base substitution T A intron_variant MELA-AU 18 45591011 45591011 single base substitution G A intron_variant MELA-AU 18 45591286 45591286 single base substitution G A intron_variant MELA-AU 18 45591376 45591376 single base substitution A G intron_variant MELA-AU 18 45591490 45591490 single base substitution C T intron_variant MELA-AU 18 45591506 45591506 single base substitution C T intron_variant MELA-AU 18 45591536 45591536 single base substitution C T intron_variant MELA-AU 18 45591543 45591543 single base substitution G A intron_variant MELA-AU 18 45591628 45591628 single base substitution C T intron_variant MELA-AU 18 45591677 45591677 single base substitution G A intron_variant MELA-AU 18 45591746 45591746 single base substitution G A intron_variant MELA-AU 18 45591870 45591870 single base substitution G A intron_variant MELA-AU 18 45592023 45592023 single base substitution T C intron_variant MELA-AU 18 45592058 45592058 single base substitution G A intron_variant MELA-AU 18 45592156 45592156 single base substitution A G intron_variant MELA-AU 18 45592238 45592238 single base substitution G A intron_variant MELA-AU 18 45592279 45592279 single base substitution C T intron_variant MELA-AU 18 45592433 45592433 single base substitution G C intron_variant MELA-AU 18 45592510 45592510 single base substitution C T intron_variant MELA-AU 18 45592699 45592699 single base substitution G A intron_variant MELA-AU 18 45592924 45592924 single base substitution G A intron_variant MELA-AU 18 45593131 45593131 single base substitution G A intron_variant MELA-AU 18 45593254 45593254 single base substitution C T intron_variant MELA-AU 18 45593529 45593529 single base substitution C T intron_variant MELA-AU 18 45593572 45593572 single base substitution G A intron_variant MELA-AU 18 45593691 45593691 single base substitution C T intron_variant MELA-AU 18 45593948 45593948 single base substitution C T intron_variant MELA-AU 18 45594011 45594011 single base substitution C T intron_variant MELA-AU 18 45594286 45594286 single base substitution C T intron_variant MELA-AU 18 45594423 45594423 single base substitution C T intron_variant MELA-AU 18 45594684 45594684 single base substitution G A intron_variant MELA-AU 18 45594759 45594759 single base substitution C T intron_variant MELA-AU 18 45594827 45594827 single base substitution T C intron_variant MELA-AU 18 45595007 45595007 single base substitution C T intron_variant MELA-AU 18 45595192 45595192 single base substitution C T intron_variant MELA-AU 18 45595277 45595277 single base substitution G A intron_variant MELA-AU 18 45595388 45595388 single base substitution C T intron_variant MELA-AU 18 45595493 45595493 single base substitution G A intron_variant MELA-AU 18 45595649 45595649 single base substitution C T intron_variant MELA-AU 18 45595665 45595665 single base substitution C T intron_variant MELA-AU 18 45595735 45595735 single base substitution C T intron_variant MELA-AU 18 45595839 45595839 single base substitution C T intron_variant MELA-AU 18 45596499 45596500 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45596508 45596508 single base substitution G A intron_variant MELA-AU 18 45596517 45596517 single base substitution C T intron_variant MELA-AU 18 45596641 45596641 single base substitution T C intron_variant MELA-AU 18 45596719 45596719 single base substitution C T intron_variant MELA-AU 18 45596874 45596874 single base substitution G A intron_variant MELA-AU 18 45596878 45596878 single base substitution C T intron_variant MELA-AU 18 45596905 45596905 single base substitution C T intron_variant MELA-AU 18 45596958 45596958 single base substitution G A intron_variant MELA-AU 18 45597154 45597154 single base substitution C T intron_variant MELA-AU 18 45597231 45597231 single base substitution C T intron_variant MELA-AU 18 45597447 45597447 single base substitution G A intron_variant MELA-AU 18 45597592 45597592 single base substitution G A intron_variant MELA-AU 18 45597604 45597604 single base substitution G A intron_variant MELA-AU 18 45597977 45597977 single base substitution G A intron_variant MELA-AU 18 45597992 45597992 single base substitution C T intron_variant MELA-AU 18 45598065 45598065 single base substitution A C intron_variant MELA-AU 18 45598177 45598177 single base substitution C T intron_variant MELA-AU 18 45598190 45598190 single base substitution G A intron_variant MELA-AU 18 45598298 45598298 single base substitution G A intron_variant MELA-AU 18 45598314 45598314 single base substitution G A intron_variant MELA-AU 18 45598355 45598355 single base substitution G A intron_variant MELA-AU 18 45598445 45598445 single base substitution G A intron_variant MELA-AU 18 45598550 45598550 single base substitution C T intron_variant MELA-AU 18 45598791 45598791 single base substitution C T intron_variant MELA-AU 18 45598879 45598879 single base substitution G A 5_prime_UTR_variant MELA-AU 18 45598879 45598879 single base substitution G A intron_variant MELA-AU 18 45598991 45598991 single base substitution G A intron_variant MELA-AU 18 45599085 45599085 single base substitution C T intron_variant MELA-AU 18 45599107 45599107 single base substitution C T intron_variant MELA-AU 18 45599118 45599118 single base substitution G A intron_variant MELA-AU 18 45599252 45599252 single base substitution G A intron_variant MELA-AU 18 45599637 45599637 single base substitution G A intron_variant MELA-AU 18 45599689 45599689 single base substitution C T intron_variant MELA-AU 18 45599707 45599707 single base substitution G A intron_variant MELA-AU 18 45599850 45599850 single base substitution G A intron_variant MELA-AU 18 45599946 45599946 single base substitution G A intron_variant MELA-AU 18 45600290 45600290 single base substitution C T intron_variant MELA-AU 18 45600710 45600710 single base substitution C T intron_variant MELA-AU 18 45600719 45600719 single base substitution G A intron_variant MELA-AU 18 45600787 45600787 single base substitution G A intron_variant MELA-AU 18 45601038 45601038 single base substitution C T intron_variant MELA-AU 18 45601057 45601057 single base substitution C A intron_variant MELA-AU 18 45601094 45601094 single base substitution G A intron_variant MELA-AU 18 45601115 45601115 single base substitution C T intron_variant MELA-AU 18 45601186 45601186 single base substitution G A intron_variant MELA-AU 18 45601319 45601319 single base substitution T G intron_variant MELA-AU 18 45601335 45601335 single base substitution C T intron_variant MELA-AU 18 45601518 45601518 single base substitution C T intron_variant MELA-AU 18 45601867 45601867 single base substitution G A intron_variant MELA-AU 18 45601966 45601966 single base substitution C T intron_variant MELA-AU 18 45602117 45602117 single base substitution C T intron_variant MELA-AU 18 45602211 45602211 single base substitution C T intron_variant MELA-AU 18 45602370 45602371 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45602674 45602674 single base substitution G A intron_variant MELA-AU 18 45602761 45602761 single base substitution G A intron_variant MELA-AU 18 45602828 45602828 single base substitution C T intron_variant MELA-AU 18 45602921 45602921 single base substitution C T intron_variant MELA-AU 18 45602950 45602950 single base substitution G A intron_variant MELA-AU 18 45603098 45603098 single base substitution G A intron_variant MELA-AU 18 45603249 45603249 single base substitution G A intron_variant MELA-AU 18 45603541 45603541 single base substitution G A intron_variant MELA-AU 18 45603701 45603701 single base substitution G T intron_variant MELA-AU 18 45603834 45603834 single base substitution G A intron_variant MELA-AU 18 45603972 45603972 single base substitution G A intron_variant MELA-AU 18 45604619 45604619 single base substitution G A intron_variant MELA-AU 18 45604844 45604845 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45604930 45604930 single base substitution C T intron_variant MELA-AU 18 45605129 45605129 single base substitution G A intron_variant MELA-AU 18 45605199 45605199 single base substitution C T intron_variant MELA-AU 18 45605226 45605226 single base substitution C T intron_variant MELA-AU 18 45605562 45605562 single base substitution C T intron_variant MELA-AU 18 45605602 45605602 single base substitution G A intron_variant MELA-AU 18 45605698 45605698 single base substitution A G intron_variant MELA-AU 18 45605852 45605852 single base substitution G A intron_variant MELA-AU 18 45605893 45605893 single base substitution C T intron_variant MELA-AU 18 45605932 45605932 single base substitution C T intron_variant MELA-AU 18 45606072 45606072 single base substitution C T intron_variant MELA-AU 18 45606175 45606175 single base substitution C T intron_variant MELA-AU 18 45606296 45606296 single base substitution G A intron_variant MELA-AU 18 45606388 45606388 single base substitution G A intron_variant MELA-AU 18 45606449 45606449 single base substitution C T intron_variant MELA-AU 18 45606747 45606747 single base substitution C T intron_variant MELA-AU 18 45606779 45606779 single base substitution C T intron_variant MELA-AU 18 45606906 45606906 single base substitution C T intron_variant MELA-AU 18 45607168 45607168 single base substitution G A intron_variant MELA-AU 18 45607306 45607306 single base substitution C T intron_variant MELA-AU 18 45607319 45607319 single base substitution C T intron_variant MELA-AU 18 45607367 45607367 single base substitution C T intron_variant MELA-AU 18 45607453 45607453 single base substitution G A intron_variant MELA-AU 18 45607601 45607601 single base substitution G A intron_variant MELA-AU 18 45607750 45607750 single base substitution G A intron_variant MELA-AU 18 45608001 45608001 single base substitution C T intron_variant MELA-AU 18 45608006 45608006 single base substitution C T intron_variant MELA-AU 18 45608087 45608087 single base substitution G A intron_variant MELA-AU 18 45608117 45608118 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 18 45609020 45609020 single base substitution G A intron_variant MELA-AU 18 45609088 45609088 single base substitution C T intron_variant MELA-AU 18 45609114 45609114 single base substitution G A intron_variant MELA-AU 18 45609187 45609187 single base substitution G A intron_variant MELA-AU 18 45609230 45609230 single base substitution G A intron_variant MELA-AU 18 45609549 45609549 single base substitution C T intron_variant MELA-AU 18 45609555 45609555 single base substitution T C intron_variant MELA-AU 18 45609611 45609611 single base substitution G A intron_variant MELA-AU 18 45609940 45609940 single base substitution G A intron_variant MELA-AU 18 45609980 45609980 single base substitution C T intron_variant MELA-AU 18 45610395 45610395 single base substitution G A intron_variant MELA-AU 18 45610478 45610478 single base substitution G C intron_variant MELA-AU 18 45610589 45610589 single base substitution C T intron_variant MELA-AU 18 45610602 45610602 single base substitution G A intron_variant MELA-AU 18 45610626 45610626 single base substitution G A intron_variant MELA-AU 18 45610675 45610675 single base substitution G A intron_variant MELA-AU 18 45610745 45610745 single base substitution C T intron_variant MELA-AU 18 45610941 45610941 single base substitution G A intron_variant MELA-AU 18 45611048 45611048 single base substitution C T intron_variant MELA-AU 18 45611292 45611292 single base substitution C T intron_variant MELA-AU 18 45611474 45611474 single base substitution A G intron_variant MELA-AU 18 45611527 45611527 single base substitution G A intron_variant MELA-AU 18 45611658 45611658 single base substitution G A intron_variant MELA-AU 18 45611659 45611659 single base substitution A C intron_variant MELA-AU 18 45611707 45611707 single base substitution C G intron_variant MELA-AU 18 45611760 45611760 single base substitution G A intron_variant MELA-AU 18 45612029 45612029 single base substitution G A intron_variant MELA-AU 18 45612085 45612085 single base substitution G A intron_variant MELA-AU 18 45612135 45612135 single base substitution G A intron_variant MELA-AU 18 45612279 45612279 single base substitution C T intron_variant MELA-AU 18 45612639 45612639 single base substitution C T intron_variant MELA-AU 18 45612751 45612751 single base substitution G A intron_variant MELA-AU 18 45612925 45612925 single base substitution C T intron_variant MELA-AU 18 45612956 45612956 single base substitution G A intron_variant MELA-AU 18 45612990 45612990 single base substitution C T intron_variant MELA-AU 18 45613100 45613100 single base substitution C T intron_variant MELA-AU 18 45613707 45613707 single base substitution C T intron_variant MELA-AU 18 45613935 45613935 single base substitution C T intron_variant MELA-AU 18 45614222 45614222 single base substitution G A intron_variant MELA-AU 18 45614439 45614439 single base substitution C T intron_variant MELA-AU 18 45614500 45614500 single base substitution G A intron_variant MELA-AU 18 45614594 45614594 single base substitution G T intron_variant MELA-AU 18 45614734 45614734 single base substitution G A intron_variant MELA-AU 18 45614734 45614734 single base substitution G A splice_region_variant MELA-AU 18 45615002 45615002 single base substitution C T intron_variant MELA-AU 18 45615096 45615096 single base substitution G A intron_variant MELA-AU 18 45615170 45615170 single base substitution C T intron_variant MELA-AU 18 45615229 45615229 single base substitution G A intron_variant MELA-AU 18 45615316 45615316 single base substitution G A intron_variant MELA-AU 18 45615402 45615402 single base substitution C T intron_variant MELA-AU 18 45615528 45615528 single base substitution C T intron_variant MELA-AU 18 45615537 45615537 single base substitution G A intron_variant MELA-AU 18 45615757 45615757 single base substitution C T intron_variant MELA-AU 18 45615819 45615819 single base substitution G A intron_variant MELA-AU 18 45615830 45615830 single base substitution G A intron_variant MELA-AU 18 45615870 45615870 single base substitution G A intron_variant MELA-AU 18 45615902 45615902 single base substitution C T intron_variant MELA-AU 18 45615903 45615903 single base substitution C T intron_variant MELA-AU 18 45616140 45616140 single base substitution G A intron_variant MELA-AU 18 45616149 45616149 single base substitution C T intron_variant MELA-AU 18 45616152 45616152 single base substitution G A intron_variant MELA-AU 18 45616409 45616409 single base substitution C T intron_variant MELA-AU 18 45616615 45616615 single base substitution G A intron_variant MELA-AU 18 45616720 45616720 single base substitution C T intron_variant MELA-AU 18 45616783 45616783 single base substitution C T intron_variant MELA-AU 18 45616847 45616847 single base substitution G A intron_variant MELA-AU 18 45616894 45616894 single base substitution C T intron_variant MELA-AU 18 45617178 45617178 single base substitution C T intron_variant MELA-AU 18 45617245 45617245 single base substitution C T intron_variant MELA-AU 18 45617942 45617942 single base substitution C T intron_variant MELA-AU 18 45618038 45618039 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45618096 45618096 single base substitution C T intron_variant MELA-AU 18 45618106 45618106 single base substitution C T intron_variant MELA-AU 18 45618141 45618141 single base substitution C T intron_variant MELA-AU 18 45618213 45618213 single base substitution G A intron_variant MELA-AU 18 45618229 45618230 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45618467 45618467 single base substitution C T intron_variant MELA-AU 18 45618597 45618597 single base substitution C T intron_variant MELA-AU 18 45618634 45618634 single base substitution C T intron_variant MELA-AU 18 45618938 45618938 single base substitution G A intron_variant MELA-AU 18 45619094 45619094 single base substitution G A intron_variant MELA-AU 18 45619184 45619184 single base substitution G A intron_variant MELA-AU 18 45619294 45619294 single base substitution G A intron_variant MELA-AU 18 45619613 45619613 single base substitution G A intron_variant MELA-AU 18 45619825 45619825 single base substitution G A intron_variant MELA-AU 18 45619865 45619865 single base substitution G A intron_variant MELA-AU 18 45620070 45620070 single base substitution C T intron_variant MELA-AU 18 45620131 45620131 single base substitution G A intron_variant MELA-AU 18 45620131 45620131 single base substitution G C intron_variant MELA-AU 18 45620140 45620140 single base substitution G A intron_variant MELA-AU 18 45620155 45620155 single base substitution G A intron_variant MELA-AU 18 45620477 45620478 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45620538 45620538 single base substitution C T intron_variant MELA-AU 18 45620777 45620777 single base substitution G A intron_variant MELA-AU 18 45620820 45620820 single base substitution C A intron_variant MELA-AU 18 45620974 45620974 insertion of <=200bp - T intron_variant MELA-AU 18 45621020 45621020 single base substitution C T intron_variant MELA-AU 18 45621213 45621213 single base substitution G A intron_variant MELA-AU 18 45621221 45621221 single base substitution G A intron_variant MELA-AU 18 45621279 45621279 single base substitution G A intron_variant MELA-AU 18 45621370 45621370 single base substitution C T intron_variant MELA-AU 18 45621407 45621407 single base substitution C T intron_variant MELA-AU 18 45621418 45621418 single base substitution G A intron_variant MELA-AU 18 45621796 45621796 single base substitution G A intron_variant MELA-AU 18 45622054 45622054 single base substitution G A intron_variant MELA-AU 18 45622100 45622100 insertion of <=200bp - AAATG intron_variant MELA-AU 18 45622391 45622391 single base substitution G A intron_variant MELA-AU 18 45622492 45622492 single base substitution C T intron_variant MELA-AU 18 45622541 45622541 single base substitution G A intron_variant MELA-AU 18 45622584 45622584 single base substitution C T intron_variant MELA-AU 18 45622701 45622701 single base substitution G A intron_variant MELA-AU 18 45622776 45622776 single base substitution G A intron_variant MELA-AU 18 45623122 45623122 single base substitution G C intron_variant MELA-AU 18 45623518 45623518 single base substitution A G intron_variant MELA-AU 18 45623698 45623698 single base substitution C T intron_variant MELA-AU 18 45623788 45623788 single base substitution G A intron_variant MELA-AU 18 45623852 45623852 single base substitution C T intron_variant MELA-AU 18 45623952 45623952 single base substitution G A intron_variant MELA-AU 18 45624126 45624126 single base substitution C T intron_variant MELA-AU 18 45624595 45624595 single base substitution G A intron_variant MELA-AU 18 45624696 45624696 single base substitution C T intron_variant MELA-AU 18 45624889 45624889 single base substitution G A intron_variant MELA-AU 18 45624973 45624973 single base substitution C T intron_variant MELA-AU 18 45625004 45625004 single base substitution C T intron_variant MELA-AU 18 45625025 45625025 single base substitution T A intron_variant MELA-AU 18 45625241 45625241 single base substitution C T intron_variant MELA-AU 18 45625325 45625325 single base substitution G A intron_variant MELA-AU 18 45625330 45625330 single base substitution C T intron_variant MELA-AU 18 45625655 45625655 single base substitution C T intron_variant MELA-AU 18 45625661 45625661 single base substitution G A intron_variant MELA-AU 18 45625784 45625784 single base substitution C T intron_variant MELA-AU 18 45625899 45625899 single base substitution C T intron_variant MELA-AU 18 45625923 45625923 single base substitution C A intron_variant MELA-AU 18 45625965 45625965 single base substitution G A intron_variant MELA-AU 18 45626011 45626011 single base substitution G A intron_variant MELA-AU 18 45626075 45626075 single base substitution C G intron_variant MELA-AU 18 45626275 45626275 single base substitution G A intron_variant MELA-AU 18 45626295 45626295 single base substitution T C intron_variant MELA-AU 18 45626406 45626406 single base substitution C A intron_variant MELA-AU 18 45626467 45626467 single base substitution G A intron_variant MELA-AU 18 45626889 45626889 single base substitution C T intron_variant MELA-AU 18 45627155 45627155 single base substitution G A intron_variant MELA-AU 18 45627306 45627306 single base substitution C T intron_variant MELA-AU 18 45627448 45627448 single base substitution G A intron_variant MELA-AU 18 45627459 45627459 single base substitution C T intron_variant MELA-AU 18 45627529 45627529 single base substitution C T intron_variant MELA-AU 18 45627820 45627820 single base substitution A G intron_variant MELA-AU 18 45627825 45627825 single base substitution G A intron_variant MELA-AU 18 45628053 45628053 single base substitution G A intron_variant MELA-AU 18 45628322 45628322 single base substitution C T intron_variant MELA-AU 18 45628686 45628686 single base substitution G A intron_variant MELA-AU 18 45628714 45628714 single base substitution C T intron_variant MELA-AU 18 45628754 45628754 single base substitution G A intron_variant MELA-AU 18 45628761 45628761 single base substitution C T intron_variant MELA-AU 18 45629012 45629012 single base substitution G A intron_variant MELA-AU 18 45629050 45629050 single base substitution G A intron_variant MELA-AU 18 45629471 45629471 single base substitution A T intron_variant MELA-AU 18 45629499 45629499 single base substitution C T intron_variant MELA-AU 18 45629659 45629659 single base substitution G A intron_variant MELA-AU 18 45629796 45629796 single base substitution G A intron_variant MELA-AU 18 45629809 45629809 single base substitution G A intron_variant MELA-AU 18 45629962 45629962 single base substitution C T intron_variant MELA-AU 18 45630061 45630061 single base substitution C T intron_variant MELA-AU 18 45630100 45630100 single base substitution C T intron_variant MELA-AU 18 45630177 45630177 single base substitution C T intron_variant MELA-AU 18 45630316 45630316 single base substitution G A intron_variant MELA-AU 18 45630318 45630318 single base substitution G A intron_variant MELA-AU 18 45630349 45630349 single base substitution G A intron_variant MELA-AU 18 45630545 45630545 single base substitution G A intron_variant MELA-AU 18 45630654 45630654 single base substitution G A intron_variant MELA-AU 18 45630802 45630802 single base substitution G A intron_variant MELA-AU 18 45631178 45631179 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45631213 45631213 single base substitution G A intron_variant MELA-AU 18 45631511 45631511 single base substitution G A intron_variant MELA-AU 18 45631633 45631633 single base substitution C T intron_variant MELA-AU 18 45631745 45631745 single base substitution G A intron_variant MELA-AU 18 45631896 45631896 single base substitution C T intron_variant MELA-AU 18 45632433 45632433 single base substitution C T intron_variant MELA-AU 18 45632645 45632645 single base substitution C T intron_variant MELA-AU 18 45632758 45632758 single base substitution C T intron_variant MELA-AU 18 45632851 45632851 single base substitution C A intron_variant MELA-AU 18 45632876 45632876 single base substitution G A intron_variant MELA-AU 18 45632964 45632964 single base substitution C T intron_variant MELA-AU 18 45633298 45633298 single base substitution C T intron_variant MELA-AU 18 45633371 45633371 single base substitution C T intron_variant MELA-AU 18 45633511 45633511 single base substitution G A intron_variant MELA-AU 18 45633560 45633560 single base substitution G A intron_variant MELA-AU 18 45633599 45633599 single base substitution G A intron_variant MELA-AU 18 45633706 45633706 single base substitution G A intron_variant MELA-AU 18 45633806 45633806 single base substitution G A intron_variant MELA-AU 18 45633918 45633918 single base substitution G A intron_variant MELA-AU 18 45634036 45634036 single base substitution C T intron_variant MELA-AU 18 45634093 45634093 single base substitution C T intron_variant MELA-AU 18 45634258 45634258 single base substitution C T intron_variant MELA-AU 18 45634280 45634280 single base substitution C T intron_variant MELA-AU 18 45634494 45634494 single base substitution G A intron_variant MELA-AU 18 45634539 45634539 single base substitution G A intron_variant MELA-AU 18 45634554 45634554 single base substitution G A intron_variant MELA-AU 18 45634627 45634627 single base substitution G A intron_variant MELA-AU 18 45634755 45634755 single base substitution G A intron_variant MELA-AU 18 45635048 45635048 single base substitution C T intron_variant MELA-AU 18 45635389 45635389 single base substitution C T intron_variant MELA-AU 18 45635584 45635584 single base substitution G A intron_variant MELA-AU 18 45635626 45635626 single base substitution C T intron_variant MELA-AU 18 45635704 45635704 single base substitution C T intron_variant MELA-AU 18 45635778 45635778 single base substitution G A intron_variant MELA-AU 18 45636108 45636108 single base substitution C T intron_variant MELA-AU 18 45636306 45636306 single base substitution C T intron_variant MELA-AU 18 45636780 45636780 single base substitution G A intron_variant MELA-AU 18 45636946 45636946 single base substitution C T intron_variant MELA-AU 18 45637013 45637013 single base substitution C T intron_variant MELA-AU 18 45637153 45637153 single base substitution G A intron_variant MELA-AU 18 45637345 45637345 single base substitution C T intron_variant MELA-AU 18 45637346 45637346 single base substitution G A intron_variant MELA-AU 18 45637476 45637476 single base substitution G A intron_variant MELA-AU 18 45637558 45637558 single base substitution C T intron_variant MELA-AU 18 45637641 45637641 single base substitution G A intron_variant MELA-AU 18 45637836 45637836 single base substitution C T intron_variant MELA-AU 18 45637883 45637883 single base substitution G T intron_variant MELA-AU 18 45637916 45637916 single base substitution G A intron_variant MELA-AU 18 45637954 45637954 single base substitution G A intron_variant MELA-AU 18 45638055 45638055 single base substitution G A intron_variant MELA-AU 18 45638227 45638227 single base substitution A G intron_variant MELA-AU 18 45638352 45638352 single base substitution T A intron_variant MELA-AU 18 45638391 45638391 single base substitution G A intron_variant MELA-AU 18 45638527 45638527 single base substitution G A intron_variant MELA-AU 18 45638756 45638756 single base substitution C T intron_variant MELA-AU 18 45638903 45638903 single base substitution G A intron_variant MELA-AU 18 45639274 45639274 single base substitution A G intron_variant MELA-AU 18 45639606 45639606 single base substitution C T intron_variant MELA-AU 18 45639627 45639627 single base substitution C T intron_variant MELA-AU 18 45640444 45640444 single base substitution G A intron_variant MELA-AU 18 45640537 45640537 single base substitution G A intron_variant MELA-AU 18 45641374 45641374 single base substitution C T intron_variant MELA-AU 18 45641451 45641451 single base substitution C T intron_variant MELA-AU 18 45641683 45641683 single base substitution G A intron_variant MELA-AU 18 45641714 45641714 single base substitution G A intron_variant MELA-AU 18 45641722 45641722 single base substitution C T intron_variant MELA-AU 18 45641866 45641866 single base substitution C T intron_variant MELA-AU 18 45642104 45642104 single base substitution G A intron_variant MELA-AU 18 45642278 45642278 single base substitution C T intron_variant MELA-AU 18 45642487 45642487 single base substitution C T intron_variant MELA-AU 18 45642660 45642660 single base substitution G A intron_variant MELA-AU 18 45643012 45643012 single base substitution C T intron_variant MELA-AU 18 45643101 45643101 single base substitution C T intron_variant MELA-AU 18 45643172 45643172 single base substitution C T intron_variant MELA-AU 18 45643239 45643239 single base substitution C T intron_variant MELA-AU 18 45643512 45643512 single base substitution C T intron_variant MELA-AU 18 45643641 45643641 single base substitution G A intron_variant MELA-AU 18 45643668 45643668 single base substitution C T intron_variant MELA-AU 18 45644043 45644043 single base substitution C T intron_variant MELA-AU 18 45644281 45644281 single base substitution G A intron_variant MELA-AU 18 45644287 45644287 single base substitution G A intron_variant MELA-AU 18 45644910 45644910 single base substitution T G intron_variant MELA-AU 18 45645054 45645054 single base substitution G A intron_variant MELA-AU 18 45645175 45645175 single base substitution G A intron_variant MELA-AU 18 45645502 45645502 single base substitution G A intron_variant MELA-AU 18 45645524 45645524 single base substitution C T intron_variant MELA-AU 18 45645664 45645664 single base substitution C T intron_variant MELA-AU 18 45645888 45645888 single base substitution G A intron_variant MELA-AU 18 45646035 45646035 single base substitution C T intron_variant MELA-AU 18 45646110 45646110 single base substitution C T intron_variant MELA-AU 18 45646237 45646237 single base substitution G A intron_variant MELA-AU 18 45646503 45646503 single base substitution G A intron_variant MELA-AU 18 45646509 45646509 single base substitution G A intron_variant MELA-AU 18 45646550 45646550 single base substitution G A intron_variant MELA-AU 18 45646613 45646613 single base substitution G A intron_variant MELA-AU 18 45646643 45646643 single base substitution G A intron_variant MELA-AU 18 45647231 45647231 single base substitution G A intron_variant MELA-AU 18 45647272 45647272 single base substitution C T intron_variant MELA-AU 18 45647455 45647455 single base substitution C T intron_variant MELA-AU 18 45647553 45647553 single base substitution C T intron_variant MELA-AU 18 45647564 45647564 single base substitution G A intron_variant MELA-AU 18 45647697 45647697 single base substitution G A intron_variant MELA-AU 18 45647981 45647981 single base substitution G A intron_variant MELA-AU 18 45647981 45647981 single base substitution G T intron_variant MELA-AU 18 45648110 45648110 single base substitution G A intron_variant MELA-AU 18 45648142 45648142 single base substitution G A intron_variant MELA-AU 18 45648264 45648264 single base substitution G A intron_variant MELA-AU 18 45648265 45648265 single base substitution G A intron_variant MELA-AU 18 45648437 45648437 single base substitution C T intron_variant MELA-AU 18 45648673 45648673 single base substitution G A intron_variant MELA-AU 18 45648808 45648808 single base substitution G C intron_variant MELA-AU 18 45648972 45648972 single base substitution C T intron_variant MELA-AU 18 45649108 45649108 single base substitution G A intron_variant MELA-AU 18 45649109 45649109 single base substitution G A intron_variant MELA-AU 18 45649381 45649381 single base substitution C T intron_variant MELA-AU 18 45649382 45649382 single base substitution C T intron_variant MELA-AU 18 45649538 45649538 single base substitution C T intron_variant MELA-AU 18 45649843 45649843 single base substitution C T intron_variant MELA-AU 18 45649887 45649887 single base substitution C T intron_variant MELA-AU 18 45650048 45650048 single base substitution G A intron_variant MELA-AU 18 45650098 45650098 single base substitution T A intron_variant MELA-AU 18 45650191 45650191 single base substitution C T intron_variant MELA-AU 18 45650417 45650417 single base substitution C T intron_variant MELA-AU 18 45650533 45650533 single base substitution G T intron_variant MELA-AU 18 45650884 45650884 single base substitution G A intron_variant MELA-AU 18 45650997 45650997 single base substitution G A intron_variant MELA-AU 18 45651688 45651688 single base substitution G A intron_variant MELA-AU 18 45651907 45651907 single base substitution T A intron_variant MELA-AU 18 45651943 45651943 single base substitution G A intron_variant MELA-AU 18 45651995 45651995 single base substitution A C intron_variant MELA-AU 18 45652000 45652000 single base substitution G A intron_variant MELA-AU 18 45652418 45652418 single base substitution T C intron_variant MELA-AU 18 45652728 45652728 single base substitution G A intron_variant MELA-AU 18 45652735 45652735 single base substitution G A intron_variant MELA-AU 18 45652755 45652755 single base substitution C T intron_variant MELA-AU 18 45652832 45652832 single base substitution G A intron_variant MELA-AU 18 45653134 45653134 single base substitution C T intron_variant MELA-AU 18 45653314 45653314 single base substitution G A intron_variant MELA-AU 18 45653458 45653458 single base substitution C T intron_variant MELA-AU 18 45653496 45653496 single base substitution C T intron_variant MELA-AU 18 45653643 45653643 single base substitution C T intron_variant MELA-AU 18 45653694 45653694 single base substitution C T intron_variant MELA-AU 18 45653872 45653872 single base substitution G A intron_variant MELA-AU 18 45653935 45653935 single base substitution C T intron_variant MELA-AU 18 45653995 45653995 single base substitution C T intron_variant MELA-AU 18 45654186 45654186 single base substitution G A intron_variant MELA-AU 18 45654193 45654193 single base substitution G A intron_variant MELA-AU 18 45654245 45654245 single base substitution G A intron_variant MELA-AU 18 45654250 45654250 single base substitution G A intron_variant MELA-AU 18 45654256 45654256 single base substitution G A intron_variant MELA-AU 18 45654394 45654394 single base substitution C T intron_variant MELA-AU 18 45654430 45654430 single base substitution C T intron_variant MELA-AU 18 45654446 45654446 single base substitution G A intron_variant MELA-AU 18 45654519 45654519 single base substitution A C intron_variant MELA-AU 18 45654638 45654638 single base substitution G A intron_variant MELA-AU 18 45654719 45654719 single base substitution C T intron_variant MELA-AU 18 45654721 45654721 single base substitution A C intron_variant MELA-AU 18 45654743 45654743 single base substitution C G intron_variant MELA-AU 18 45654769 45654769 single base substitution C T intron_variant MELA-AU 18 45655277 45655277 single base substitution C T intron_variant MELA-AU 18 45655303 45655303 single base substitution G A intron_variant MELA-AU 18 45655453 45655453 single base substitution G A intron_variant MELA-AU 18 45655465 45655465 single base substitution C T intron_variant MELA-AU 18 45655468 45655468 single base substitution G A intron_variant MELA-AU 18 45655492 45655492 single base substitution G A intron_variant MELA-AU 18 45655546 45655546 single base substitution T G intron_variant MELA-AU 18 45656081 45656081 single base substitution C T intron_variant MELA-AU 18 45656385 45656385 single base substitution C A intron_variant MELA-AU 18 45656414 45656414 single base substitution G A intron_variant MELA-AU 18 45656526 45656526 single base substitution G A intron_variant MELA-AU 18 45656618 45656618 single base substitution T C intron_variant MELA-AU 18 45656643 45656643 single base substitution G A intron_variant MELA-AU 18 45656729 45656729 single base substitution G A intron_variant MELA-AU 18 45656988 45656988 single base substitution C T intron_variant MELA-AU 18 45657139 45657139 single base substitution G A intron_variant MELA-AU 18 45657397 45657397 single base substitution C T intron_variant MELA-AU 18 45657398 45657398 single base substitution C T intron_variant MELA-AU 18 45657732 45657732 single base substitution C T intron_variant MELA-AU 18 45657993 45657993 single base substitution G A intron_variant MELA-AU 18 45658291 45658291 single base substitution C T intron_variant MELA-AU 18 45658649 45658649 single base substitution A G intron_variant MELA-AU 18 45658703 45658703 single base substitution T A intron_variant MELA-AU 18 45658774 45658774 single base substitution A G intron_variant MELA-AU 18 45659366 45659366 single base substitution C T intron_variant MELA-AU 18 45659588 45659588 single base substitution G A intron_variant MELA-AU 18 45659623 45659623 single base substitution G A intron_variant MELA-AU 18 45659934 45659934 single base substitution G A intron_variant MELA-AU 18 45659983 45659983 single base substitution T C intron_variant MELA-AU 18 45660360 45660360 single base substitution C G intron_variant MELA-AU 18 45661191 45661191 single base substitution C T intron_variant MELA-AU 18 45661285 45661285 single base substitution G A intron_variant MELA-AU 18 45661379 45661379 single base substitution C T intron_variant MELA-AU 18 45661960 45661960 single base substitution G A intron_variant MELA-AU 18 45662052 45662053 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45662140 45662140 single base substitution C T intron_variant MELA-AU 18 45662509 45662509 single base substitution C T intron_variant MELA-AU 18 45663190 45663190 single base substitution C T intron_variant MELA-AU 18 45663846 45663846 single base substitution G A intron_variant MELA-AU 18 45663846 45663846 single base substitution G A upstream_gene_variant MELA-AU 18 45664254 45664254 single base substitution C T intron_variant MELA-AU 18 45664254 45664254 single base substitution C T upstream_gene_variant MELA-AU 18 45664278 45664278 single base substitution C T intron_variant MELA-AU 18 45664278 45664278 single base substitution C T upstream_gene_variant MELA-AU 18 45664426 45664426 single base substitution G A intron_variant MELA-AU 18 45664426 45664426 single base substitution G A upstream_gene_variant MELA-AU 18 45664438 45664438 single base substitution G A intron_variant MELA-AU 18 45664438 45664438 single base substitution G A upstream_gene_variant MELA-AU 18 45664478 45664478 single base substitution G A intron_variant MELA-AU 18 45664478 45664478 single base substitution G A upstream_gene_variant MELA-AU 18 45664632 45664632 single base substitution C T intron_variant MELA-AU 18 45664632 45664632 single base substitution C T upstream_gene_variant MELA-AU 18 45664807 45664807 single base substitution C T intron_variant MELA-AU 18 45664807 45664807 single base substitution C T upstream_gene_variant MELA-AU 18 45664853 45664853 single base substitution G A intron_variant MELA-AU 18 45664853 45664853 single base substitution G A upstream_gene_variant MELA-AU 18 45665028 45665028 single base substitution C T intron_variant MELA-AU 18 45665028 45665028 single base substitution C T upstream_gene_variant MELA-AU 18 45665339 45665339 single base substitution C T intron_variant MELA-AU 18 45665339 45665339 single base substitution C T upstream_gene_variant MELA-AU 18 45665342 45665342 single base substitution C A intron_variant MELA-AU 18 45665342 45665342 single base substitution C A upstream_gene_variant MELA-AU 18 45666030 45666030 single base substitution C T intron_variant MELA-AU 18 45666030 45666030 single base substitution C T upstream_gene_variant MELA-AU 18 45666277 45666277 single base substitution C T intron_variant MELA-AU 18 45666277 45666277 single base substitution C T upstream_gene_variant MELA-AU 18 45666776 45666776 single base substitution G A intron_variant MELA-AU 18 45666776 45666776 single base substitution G A upstream_gene_variant MELA-AU 18 45666914 45666914 single base substitution C T intron_variant MELA-AU 18 45666914 45666914 single base substitution C T upstream_gene_variant MELA-AU 18 45666999 45666999 single base substitution C T intron_variant MELA-AU 18 45666999 45666999 single base substitution C T upstream_gene_variant MELA-AU 18 45667020 45667020 single base substitution T C intron_variant MELA-AU 18 45667020 45667020 single base substitution T C upstream_gene_variant MELA-AU 18 45667347 45667347 single base substitution C T intron_variant MELA-AU 18 45667347 45667347 single base substitution C T upstream_gene_variant MELA-AU 18 45667471 45667471 single base substitution C T intron_variant MELA-AU 18 45667471 45667471 single base substitution C T upstream_gene_variant MELA-AU 18 45667904 45667904 single base substitution C T intron_variant MELA-AU 18 45667904 45667904 single base substitution C T upstream_gene_variant MELA-AU 18 45667907 45667907 single base substitution C T intron_variant MELA-AU 18 45667907 45667907 single base substitution C T upstream_gene_variant MELA-AU 18 45668177 45668177 single base substitution C T intron_variant MELA-AU 18 45668177 45668177 single base substitution C T upstream_gene_variant MELA-AU 18 45668557 45668557 single base substitution C T intron_variant MELA-AU 18 45668557 45668557 single base substitution C T upstream_gene_variant MELA-AU 18 45668641 45668641 single base substitution G A intron_variant MELA-AU 18 45668641 45668641 single base substitution G A upstream_gene_variant MELA-AU 18 45668701 45668701 single base substitution C T intron_variant MELA-AU 18 45668701 45668701 single base substitution C T upstream_gene_variant MELA-AU 18 45668742 45668742 single base substitution C T intron_variant MELA-AU 18 45668749 45668749 single base substitution G A intron_variant MELA-AU 18 45668799 45668799 single base substitution C T intron_variant MELA-AU 18 45669171 45669171 single base substitution C T intron_variant MELA-AU 18 45669175 45669175 single base substitution C T intron_variant MELA-AU 18 45669242 45669242 single base substitution C T intron_variant MELA-AU 18 45669291 45669291 single base substitution C T intron_variant MELA-AU 18 45669387 45669387 single base substitution G A intron_variant MELA-AU 18 45669695 45669695 single base substitution C T intron_variant MELA-AU 18 45669825 45669825 single base substitution C T intron_variant MELA-AU 18 45669923 45669923 single base substitution C T intron_variant MELA-AU 18 45669998 45669998 single base substitution T C intron_variant MELA-AU 18 45670064 45670064 single base substitution T G intron_variant MELA-AU 18 45670171 45670171 single base substitution C T intron_variant MELA-AU 18 45670285 45670285 single base substitution C T intron_variant MELA-AU 18 45670415 45670415 single base substitution G A intron_variant MELA-AU 18 45670452 45670452 single base substitution C T intron_variant MELA-AU 18 45670544 45670544 single base substitution G A intron_variant MELA-AU 18 45671134 45671134 single base substitution G A intron_variant MELA-AU 18 45671245 45671245 single base substitution C T intron_variant MELA-AU 18 45671494 45671494 single base substitution G A intron_variant MELA-AU 18 45671495 45671495 single base substitution G A intron_variant MELA-AU 18 45671512 45671512 single base substitution G A intron_variant MELA-AU 18 45671559 45671559 single base substitution G A intron_variant MELA-AU 18 45672046 45672046 single base substitution C T intron_variant MELA-AU 18 45672599 45672599 single base substitution T A intron_variant MELA-AU 18 45672616 45672616 single base substitution C T intron_variant MELA-AU 18 45672658 45672658 single base substitution C T intron_variant MELA-AU 18 45672680 45672680 single base substitution A G intron_variant MELA-AU 18 45672902 45672902 single base substitution G A intron_variant MELA-AU 18 45673253 45673253 single base substitution A T intron_variant MELA-AU 18 45673489 45673489 single base substitution C T intron_variant MELA-AU 18 45673668 45673668 single base substitution C T intron_variant MELA-AU 18 45673710 45673710 single base substitution G A intron_variant MELA-AU 18 45673943 45673943 single base substitution C T intron_variant MELA-AU 18 45674321 45674321 single base substitution C A intron_variant MELA-AU 18 45674378 45674378 single base substitution G A intron_variant MELA-AU 18 45674569 45674569 single base substitution G A intron_variant MELA-AU 18 45674611 45674611 single base substitution C T intron_variant MELA-AU 18 45674999 45674999 single base substitution G A intron_variant MELA-AU 18 45675092 45675092 single base substitution G A intron_variant MELA-AU 18 45675113 45675113 single base substitution G A intron_variant MELA-AU 18 45675253 45675253 single base substitution G A intron_variant MELA-AU 18 45675343 45675343 single base substitution C T intron_variant MELA-AU 18 45675659 45675659 single base substitution G A intron_variant MELA-AU 18 45675676 45675676 single base substitution G A intron_variant MELA-AU 18 45675792 45675792 single base substitution C T intron_variant MELA-AU 18 45675921 45675921 single base substitution C T intron_variant MELA-AU 18 45675975 45675975 single base substitution G A intron_variant MELA-AU 18 45675991 45675991 single base substitution T C intron_variant MELA-AU 18 45676043 45676043 single base substitution G A intron_variant MELA-AU 18 45676105 45676105 single base substitution G A intron_variant MELA-AU 18 45676162 45676164 deletion of <=200bp TTC - intron_variant MELA-AU 18 45676294 45676294 single base substitution C T intron_variant MELA-AU 18 45676351 45676351 single base substitution C T intron_variant MELA-AU 18 45676566 45676566 single base substitution G A intron_variant MELA-AU 18 45676669 45676669 single base substitution G A intron_variant MELA-AU 18 45676684 45676685 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45676750 45676750 single base substitution C T intron_variant MELA-AU 18 45676808 45676808 single base substitution C T intron_variant MELA-AU 18 45676878 45676879 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45676940 45676940 single base substitution G A intron_variant MELA-AU 18 45677011 45677011 single base substitution C T intron_variant MELA-AU 18 45677090 45677090 single base substitution G A intron_variant MELA-AU 18 45677282 45677282 single base substitution G A intron_variant MELA-AU 18 45677309 45677309 single base substitution C T intron_variant MELA-AU 18 45677316 45677316 single base substitution G A intron_variant MELA-AU 18 45677750 45677750 single base substitution G A intron_variant MELA-AU 18 45677765 45677765 single base substitution G A intron_variant MELA-AU 18 45677908 45677908 single base substitution G A intron_variant MELA-AU 18 45678309 45678309 single base substitution G A intron_variant MELA-AU 18 45678326 45678326 single base substitution G A intron_variant MELA-AU 18 45678515 45678515 single base substitution G A intron_variant MELA-AU 18 45678844 45678844 single base substitution G A intron_variant MELA-AU 18 45678905 45678905 single base substitution G A intron_variant MELA-AU 18 45679266 45679266 single base substitution A G intron_variant MELA-AU 18 45679342 45679342 single base substitution G A intron_variant MELA-AU 18 45679436 45679436 single base substitution G A intron_variant MELA-AU 18 45679597 45679597 single base substitution C T intron_variant MELA-AU 18 45679854 45679854 single base substitution G A intron_variant MELA-AU 18 45679871 45679871 single base substitution G A intron_variant MELA-AU 18 45680075 45680076 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45680233 45680233 single base substitution C T intron_variant MELA-AU 18 45680244 45680244 single base substitution C T intron_variant MELA-AU 18 45680578 45680578 single base substitution G A intron_variant MELA-AU 18 45680708 45680708 single base substitution G A intron_variant MELA-AU 18 45681279 45681279 single base substitution G A intron_variant MELA-AU 18 45682018 45682018 single base substitution C T intron_variant MELA-AU 18 45682114 45682114 single base substitution A T intron_variant MELA-AU 18 45682554 45682554 single base substitution G A intron_variant MELA-AU 18 45683075 45683075 single base substitution C T intron_variant MELA-AU 18 45683233 45683233 single base substitution G A intron_variant MELA-AU 18 45683691 45683691 single base substitution G A intron_variant MELA-AU 18 45683696 45683696 single base substitution G A intron_variant MELA-AU 18 45683701 45683701 single base substitution C T intron_variant MELA-AU 18 45684240 45684240 single base substitution G A intron_variant MELA-AU 18 45684392 45684392 single base substitution C T intron_variant MELA-AU 18 45684887 45684887 single base substitution G A intron_variant MELA-AU 18 45685147 45685147 single base substitution G T intron_variant MELA-AU 18 45685180 45685180 single base substitution T C intron_variant MELA-AU 18 45685251 45685251 single base substitution G A intron_variant MELA-AU 18 45685270 45685270 single base substitution G A intron_variant MELA-AU 18 45685614 45685614 single base substitution G A intron_variant MELA-AU 18 45685678 45685678 single base substitution C T intron_variant MELA-AU 18 45686051 45686051 single base substitution C T intron_variant MELA-AU 18 45686454 45686454 single base substitution C T intron_variant MELA-AU 18 45686800 45686800 single base substitution G A intron_variant MELA-AU 18 45686972 45686972 single base substitution T C intron_variant MELA-AU 18 45687216 45687216 single base substitution G A intron_variant MELA-AU 18 45687692 45687692 single base substitution C T intron_variant MELA-AU 18 45688124 45688124 single base substitution C T intron_variant MELA-AU 18 45688158 45688158 single base substitution C T intron_variant MELA-AU 18 45688160 45688160 single base substitution C T intron_variant MELA-AU 18 45688550 45688550 single base substitution G T intron_variant MELA-AU 18 45688621 45688621 single base substitution G C intron_variant MELA-AU 18 45689109 45689109 single base substitution C T intron_variant MELA-AU 18 45689817 45689817 single base substitution C T intron_variant MELA-AU 18 45690008 45690008 single base substitution G A intron_variant MELA-AU 18 45690281 45690281 single base substitution G A intron_variant MELA-AU 18 45690423 45690423 single base substitution A T intron_variant MELA-AU 18 45690551 45690551 single base substitution A G intron_variant MELA-AU 18 45691079 45691079 single base substitution G A intron_variant MELA-AU 18 45691247 45691247 single base substitution C T intron_variant MELA-AU 18 45691294 45691294 single base substitution G A intron_variant MELA-AU 18 45691566 45691566 single base substitution C T 5_prime_UTR_variant MELA-AU 18 45691566 45691566 single base substitution C T intron_variant MELA-AU 18 45691858 45691858 single base substitution C T 5_prime_UTR_variant MELA-AU 18 45691858 45691858 single base substitution C T intron_variant MELA-AU 18 45691858 45691858 single base substitution C T upstream_gene_variant MELA-AU 18 45691997 45691997 single base substitution C T intron_variant MELA-AU 18 45691997 45691997 single base substitution C T upstream_gene_variant MELA-AU 18 45692071 45692071 single base substitution G A intron_variant MELA-AU 18 45692071 45692071 single base substitution G A upstream_gene_variant MELA-AU 18 45692077 45692077 single base substitution C T intron_variant MELA-AU 18 45692077 45692077 single base substitution C T upstream_gene_variant MELA-AU 18 45692116 45692116 single base substitution G A intron_variant MELA-AU 18 45692116 45692116 single base substitution G A upstream_gene_variant MELA-AU 18 45692503 45692503 single base substitution C T intron_variant MELA-AU 18 45692503 45692503 single base substitution C T upstream_gene_variant MELA-AU 18 45692612 45692612 single base substitution C T intron_variant MELA-AU 18 45692612 45692612 single base substitution C T upstream_gene_variant MELA-AU 18 45692741 45692741 single base substitution G A intron_variant MELA-AU 18 45692741 45692741 single base substitution G A upstream_gene_variant MELA-AU 18 45692935 45692935 single base substitution G A intron_variant MELA-AU 18 45692935 45692935 single base substitution G A upstream_gene_variant MELA-AU 18 45693048 45693048 single base substitution G A intron_variant MELA-AU 18 45693048 45693048 single base substitution G A upstream_gene_variant MELA-AU 18 45693608 45693608 single base substitution C G intron_variant MELA-AU 18 45693608 45693608 single base substitution C G upstream_gene_variant MELA-AU 18 45693609 45693609 single base substitution C T intron_variant MELA-AU 18 45693609 45693609 single base substitution C T upstream_gene_variant MELA-AU 18 45693612 45693612 single base substitution C T intron_variant MELA-AU 18 45693612 45693612 single base substitution C T upstream_gene_variant MELA-AU 18 45693698 45693698 single base substitution G A intron_variant MELA-AU 18 45693698 45693698 single base substitution G A upstream_gene_variant MELA-AU 18 45693722 45693722 single base substitution C T intron_variant MELA-AU 18 45693722 45693722 single base substitution C T upstream_gene_variant MELA-AU 18 45693843 45693843 single base substitution T G intron_variant MELA-AU 18 45693843 45693843 single base substitution T G upstream_gene_variant MELA-AU 18 45693847 45693847 single base substitution G A intron_variant MELA-AU 18 45693847 45693847 single base substitution G A upstream_gene_variant MELA-AU 18 45694016 45694016 single base substitution G A intron_variant MELA-AU 18 45694016 45694016 single base substitution G A upstream_gene_variant MELA-AU 18 45694331 45694332 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45694331 45694332 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 45694410 45694410 single base substitution C T intron_variant MELA-AU 18 45694410 45694410 single base substitution C T upstream_gene_variant MELA-AU 18 45694608 45694608 single base substitution C T intron_variant MELA-AU 18 45694608 45694608 single base substitution C T upstream_gene_variant MELA-AU 18 45694647 45694647 single base substitution G A intron_variant MELA-AU 18 45694647 45694647 single base substitution G A upstream_gene_variant MELA-AU 18 45694952 45694952 single base substitution G A intron_variant MELA-AU 18 45694952 45694952 single base substitution G A upstream_gene_variant MELA-AU 18 45695005 45695005 single base substitution G A intron_variant MELA-AU 18 45695005 45695005 single base substitution G A upstream_gene_variant MELA-AU 18 45695134 45695134 single base substitution C T intron_variant MELA-AU 18 45695134 45695134 single base substitution C T upstream_gene_variant MELA-AU 18 45695152 45695152 single base substitution G A intron_variant MELA-AU 18 45695152 45695152 single base substitution G A upstream_gene_variant MELA-AU 18 45695199 45695199 single base substitution T C intron_variant MELA-AU 18 45695199 45695199 single base substitution T C upstream_gene_variant MELA-AU 18 45695252 45695252 single base substitution C T intron_variant MELA-AU 18 45695252 45695252 single base substitution C T upstream_gene_variant MELA-AU 18 45695409 45695409 single base substitution C T intron_variant MELA-AU 18 45695409 45695409 single base substitution C T upstream_gene_variant MELA-AU 18 45695641 45695641 single base substitution C T intron_variant MELA-AU 18 45695641 45695641 single base substitution C T upstream_gene_variant MELA-AU 18 45695644 45695644 single base substitution C T intron_variant MELA-AU 18 45695644 45695644 single base substitution C T upstream_gene_variant MELA-AU 18 45695648 45695648 single base substitution C T intron_variant MELA-AU 18 45695648 45695648 single base substitution C T upstream_gene_variant MELA-AU 18 45695665 45695665 single base substitution C T intron_variant MELA-AU 18 45695665 45695665 single base substitution C T upstream_gene_variant MELA-AU 18 45695676 45695676 single base substitution G A intron_variant MELA-AU 18 45695676 45695676 single base substitution G A upstream_gene_variant MELA-AU 18 45695693 45695693 single base substitution G A intron_variant MELA-AU 18 45695693 45695693 single base substitution G A upstream_gene_variant MELA-AU 18 45695898 45695898 single base substitution G A intron_variant MELA-AU 18 45695898 45695898 single base substitution G A upstream_gene_variant MELA-AU 18 45695906 45695906 single base substitution G A intron_variant MELA-AU 18 45695906 45695906 single base substitution G A upstream_gene_variant MELA-AU 18 45695918 45695918 single base substitution C T intron_variant MELA-AU 18 45695918 45695918 single base substitution C T upstream_gene_variant MELA-AU 18 45696060 45696060 single base substitution C T intron_variant MELA-AU 18 45696060 45696060 single base substitution C T upstream_gene_variant MELA-AU 18 45696163 45696163 single base substitution G A intron_variant MELA-AU 18 45696163 45696163 single base substitution G A upstream_gene_variant MELA-AU 18 45696175 45696175 single base substitution G A intron_variant MELA-AU 18 45696175 45696175 single base substitution G A upstream_gene_variant MELA-AU 18 45696359 45696359 single base substitution C T intron_variant MELA-AU 18 45696359 45696359 single base substitution C T upstream_gene_variant MELA-AU 18 45696520 45696520 single base substitution G A intron_variant MELA-AU 18 45696520 45696520 single base substitution G A upstream_gene_variant MELA-AU 18 45696832 45696833 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45696832 45696833 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 45696835 45696835 single base substitution G A intron_variant MELA-AU 18 45696835 45696835 single base substitution G A upstream_gene_variant MELA-AU 18 45696874 45696874 single base substitution C T intron_variant MELA-AU 18 45696874 45696874 single base substitution C T upstream_gene_variant MELA-AU 18 45696885 45696885 single base substitution C T intron_variant MELA-AU 18 45696885 45696885 single base substitution C T upstream_gene_variant MELA-AU 18 45697165 45697165 single base substitution C T intron_variant MELA-AU 18 45697293 45697294 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45697308 45697309 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45698101 45698101 single base substitution C T intron_variant MELA-AU 18 45698374 45698374 single base substitution C T intron_variant MELA-AU 18 45698418 45698418 single base substitution C A intron_variant MELA-AU 18 45698896 45698896 single base substitution G A intron_variant MELA-AU 18 45698898 45698898 single base substitution G A intron_variant MELA-AU 18 45698906 45698906 single base substitution G A intron_variant MELA-AU 18 45698967 45698967 single base substitution C T intron_variant MELA-AU 18 45699093 45699093 single base substitution G A intron_variant MELA-AU 18 45699156 45699156 single base substitution C T intron_variant MELA-AU 18 45699253 45699253 single base substitution G A intron_variant MELA-AU 18 45699290 45699290 single base substitution G A intron_variant MELA-AU 18 45699584 45699584 single base substitution C T intron_variant MELA-AU 18 45699594 45699594 single base substitution C T intron_variant MELA-AU 18 45699720 45699720 single base substitution C T intron_variant MELA-AU 18 45699831 45699831 single base substitution G A intron_variant MELA-AU 18 45699860 45699860 single base substitution C T intron_variant MELA-AU 18 45699939 45699939 single base substitution C T intron_variant MELA-AU 18 45699940 45699940 single base substitution C T intron_variant MELA-AU 18 45700005 45700005 single base substitution G A intron_variant MELA-AU 18 45700122 45700122 single base substitution G A intron_variant MELA-AU 18 45700175 45700175 single base substitution C T intron_variant MELA-AU 18 45700213 45700213 single base substitution G A intron_variant MELA-AU 18 45700387 45700387 single base substitution G A intron_variant MELA-AU 18 45700716 45700716 single base substitution C T intron_variant MELA-AU 18 45700919 45700919 single base substitution C T intron_variant MELA-AU 18 45701121 45701121 single base substitution G A intron_variant MELA-AU 18 45701236 45701236 single base substitution G A intron_variant MELA-AU 18 45701289 45701289 single base substitution A T intron_variant MELA-AU 18 45701373 45701373 single base substitution C T intron_variant MELA-AU 18 45701450 45701450 single base substitution C T intron_variant MELA-AU 18 45701504 45701504 single base substitution C T intron_variant MELA-AU 18 45701959 45701959 single base substitution G A intron_variant MELA-AU 18 45702097 45702097 single base substitution G A intron_variant MELA-AU 18 45702279 45702279 single base substitution G A intron_variant MELA-AU 18 45702369 45702370 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45702996 45702996 single base substitution G C intron_variant MELA-AU 18 45703099 45703099 single base substitution G A intron_variant MELA-AU 18 45703335 45703335 single base substitution G A intron_variant MELA-AU 18 45703372 45703372 single base substitution G A intron_variant MELA-AU 18 45703426 45703426 single base substitution C T intron_variant MELA-AU 18 45703462 45703462 single base substitution C T intron_variant MELA-AU 18 45703605 45703605 single base substitution C T intron_variant MELA-AU 18 45703673 45703673 single base substitution C T intron_variant MELA-AU 18 45704009 45704009 single base substitution C T intron_variant MELA-AU 18 45704227 45704227 single base substitution G A intron_variant MELA-AU 18 45704351 45704351 single base substitution C T intron_variant MELA-AU 18 45704375 45704375 single base substitution C T intron_variant MELA-AU 18 45704387 45704387 single base substitution C T intron_variant MELA-AU 18 45704392 45704393 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45704393 45704393 single base substitution C T intron_variant MELA-AU 18 45704461 45704461 single base substitution G A intron_variant MELA-AU 18 45704493 45704493 single base substitution C T intron_variant MELA-AU 18 45704563 45704563 single base substitution C T intron_variant MELA-AU 18 45704780 45704780 single base substitution C T intron_variant MELA-AU 18 45704789 45704789 single base substitution A G intron_variant MELA-AU 18 45704793 45704793 single base substitution C T intron_variant MELA-AU 18 45704842 45704842 single base substitution G A intron_variant MELA-AU 18 45705172 45705172 single base substitution C T intron_variant MELA-AU 18 45705338 45705338 single base substitution C T intron_variant MELA-AU 18 45705436 45705436 single base substitution C T intron_variant MELA-AU 18 45705974 45705974 single base substitution G A intron_variant MELA-AU 18 45705975 45705975 single base substitution G T intron_variant MELA-AU 18 45705988 45705988 single base substitution G A intron_variant MELA-AU 18 45706202 45706202 single base substitution T G intron_variant MELA-AU 18 45706227 45706227 single base substitution C T intron_variant MELA-AU 18 45706231 45706231 single base substitution C T intron_variant MELA-AU 18 45706248 45706248 single base substitution C T intron_variant MELA-AU 18 45706288 45706288 single base substitution C T intron_variant MELA-AU 18 45706356 45706356 single base substitution C T intron_variant MELA-AU 18 45706387 45706387 single base substitution C T intron_variant MELA-AU 18 45706394 45706394 single base substitution C T intron_variant MELA-AU 18 45706402 45706402 single base substitution C T intron_variant MELA-AU 18 45706406 45706406 single base substitution C T intron_variant MELA-AU 18 45706473 45706473 single base substitution C T intron_variant MELA-AU 18 45706539 45706539 single base substitution C T intron_variant MELA-AU 18 45706597 45706597 single base substitution C T intron_variant MELA-AU 18 45706736 45706736 single base substitution C T 5_prime_UTR_variant MELA-AU 18 45706736 45706736 single base substitution C T intron_variant MELA-AU 18 45706895 45706895 single base substitution G A intron_variant MELA-AU 18 45707064 45707065 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45707343 45707343 single base substitution C T intron_variant MELA-AU 18 45707790 45707790 single base substitution A C intron_variant MELA-AU 18 45707931 45707931 single base substitution G A intron_variant MELA-AU 18 45707957 45707957 single base substitution C T intron_variant MELA-AU 18 45707987 45707987 single base substitution C T intron_variant MELA-AU 18 45708052 45708052 single base substitution C T intron_variant MELA-AU 18 45708131 45708131 single base substitution C A intron_variant MELA-AU 18 45708362 45708362 single base substitution C T intron_variant MELA-AU 18 45708561 45708561 single base substitution C T intron_variant MELA-AU 18 45708681 45708681 single base substitution G A intron_variant MELA-AU 18 45708784 45708784 single base substitution G A intron_variant MELA-AU 18 45708978 45708978 single base substitution C T intron_variant MELA-AU 18 45709060 45709060 single base substitution T C intron_variant MELA-AU 18 45709228 45709228 single base substitution G A intron_variant MELA-AU 18 45709368 45709368 single base substitution G A intron_variant MELA-AU 18 45709457 45709457 single base substitution C T intron_variant MELA-AU 18 45709479 45709479 single base substitution A C intron_variant MELA-AU 18 45709568 45709569 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 18 45709646 45709646 single base substitution G A intron_variant MELA-AU 18 45709838 45709838 single base substitution C T intron_variant MELA-AU 18 45709937 45709937 single base substitution G A intron_variant MELA-AU 18 45710036 45710036 single base substitution C T intron_variant MELA-AU 18 45710126 45710126 single base substitution G A intron_variant MELA-AU 18 45710202 45710202 single base substitution C T intron_variant MELA-AU 18 45710249 45710249 single base substitution G A intron_variant MELA-AU 18 45710280 45710280 single base substitution G A intron_variant MELA-AU 18 45710587 45710587 single base substitution C T intron_variant MELA-AU 18 45710657 45710657 single base substitution G A intron_variant MELA-AU 18 45710744 45710744 single base substitution G T intron_variant MELA-AU 18 45710801 45710801 single base substitution G A intron_variant MELA-AU 18 45711043 45711043 single base substitution C T intron_variant MELA-AU 18 45711415 45711415 single base substitution C T intron_variant MELA-AU 18 45711484 45711484 single base substitution A G intron_variant MELA-AU 18 45711502 45711502 single base substitution C T intron_variant MELA-AU 18 45711566 45711566 single base substitution C T intron_variant MELA-AU 18 45711738 45711738 single base substitution C T 5_prime_UTR_variant MELA-AU 18 45711738 45711738 single base substitution C T intron_variant MELA-AU 18 45711794 45711794 single base substitution G A 5_prime_UTR_variant MELA-AU 18 45711794 45711794 single base substitution G A intron_variant MELA-AU 18 45711799 45711799 single base substitution C T 5_prime_UTR_variant MELA-AU 18 45711799 45711799 single base substitution C T intron_variant MELA-AU 18 45711857 45711857 single base substitution A T intron_variant MELA-AU 18 45712156 45712156 single base substitution C T intron_variant MELA-AU 18 45712171 45712171 single base substitution G A intron_variant MELA-AU 18 45712183 45712183 single base substitution C T intron_variant MELA-AU 18 45712238 45712238 single base substitution G A intron_variant MELA-AU 18 45712361 45712361 single base substitution C T 5_prime_UTR_variant MELA-AU 18 45712395 45712395 single base substitution C T intron_variant MELA-AU 18 45713138 45713138 single base substitution G A intron_variant MELA-AU 18 45713230 45713230 single base substitution C T intron_variant MELA-AU 18 45713333 45713333 single base substitution G A intron_variant MELA-AU 18 45713763 45713763 single base substitution C T intron_variant MELA-AU 18 45713782 45713782 single base substitution G A intron_variant MELA-AU 18 45713867 45713867 single base substitution C T intron_variant MELA-AU 18 45713964 45713964 single base substitution C T intron_variant MELA-AU 18 45713980 45713980 single base substitution C T intron_variant MELA-AU 18 45714007 45714007 single base substitution A G intron_variant MELA-AU 18 45714442 45714442 single base substitution C T intron_variant MELA-AU 18 45714504 45714504 single base substitution T C intron_variant MELA-AU 18 45714562 45714562 single base substitution G A intron_variant MELA-AU 18 45714667 45714667 single base substitution G A intron_variant MELA-AU 18 45715053 45715053 single base substitution C T intron_variant MELA-AU 18 45715182 45715182 single base substitution C T intron_variant MELA-AU 18 45715382 45715382 single base substitution C T intron_variant MELA-AU 18 45715496 45715496 single base substitution A G intron_variant MELA-AU 18 45715804 45715804 single base substitution C T intron_variant MELA-AU 18 45715822 45715822 single base substitution G A intron_variant MELA-AU 18 45715852 45715852 single base substitution C T intron_variant MELA-AU 18 45716031 45716031 single base substitution C T intron_variant MELA-AU 18 45716079 45716079 single base substitution C T intron_variant MELA-AU 18 45716195 45716195 single base substitution C T intron_variant MELA-AU 18 45716332 45716332 single base substitution G A intron_variant MELA-AU 18 45716348 45716348 single base substitution G A intron_variant MELA-AU 18 45716390 45716390 single base substitution G A intron_variant MELA-AU 18 45716403 45716403 single base substitution C T intron_variant MELA-AU 18 45716448 45716448 single base substitution T A intron_variant MELA-AU 18 45716450 45716450 single base substitution C T intron_variant MELA-AU 18 45716534 45716534 single base substitution G A intron_variant MELA-AU 18 45716718 45716718 single base substitution C T intron_variant MELA-AU 18 45716733 45716733 single base substitution G A intron_variant MELA-AU 18 45716992 45716992 single base substitution G A intron_variant MELA-AU 18 45717249 45717249 single base substitution C T intron_variant MELA-AU 18 45717468 45717468 single base substitution C T intron_variant MELA-AU 18 45717476 45717476 single base substitution C T intron_variant MELA-AU 18 45717612 45717612 single base substitution G A intron_variant MELA-AU 18 45717766 45717766 single base substitution C T intron_variant MELA-AU 18 45717833 45717833 single base substitution G A intron_variant MELA-AU 18 45718091 45718091 single base substitution A T intron_variant MELA-AU 18 45718111 45718111 single base substitution T C intron_variant MELA-AU 18 45718876 45718876 single base substitution C T intron_variant MELA-AU 18 45719103 45719103 single base substitution G A intron_variant MELA-AU 18 45719273 45719273 single base substitution C G intron_variant MELA-AU 18 45719365 45719366 multiple base substitution (>=2bp and <=200bp) AC GT intron_variant MELA-AU 18 45719639 45719639 single base substitution G A intron_variant MELA-AU 18 45719666 45719666 single base substitution C T intron_variant MELA-AU 18 45719666 45719667 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45719748 45719748 single base substitution C T intron_variant MELA-AU 18 45719843 45719843 single base substitution C T intron_variant MELA-AU 18 45719888 45719888 single base substitution G A intron_variant MELA-AU 18 45719927 45719927 single base substitution G A intron_variant MELA-AU 18 45719938 45719938 single base substitution C T intron_variant MELA-AU 18 45720022 45720022 single base substitution C T intron_variant MELA-AU 18 45720090 45720090 single base substitution G A intron_variant MELA-AU 18 45720242 45720242 single base substitution G A intron_variant MELA-AU 18 45720261 45720261 single base substitution C T intron_variant MELA-AU 18 45720280 45720280 single base substitution G A intron_variant MELA-AU 18 45720413 45720413 single base substitution C T intron_variant MELA-AU 18 45720445 45720445 single base substitution G A intron_variant MELA-AU 18 45720458 45720458 single base substitution A G intron_variant MELA-AU 18 45720655 45720655 single base substitution G A intron_variant MELA-AU 18 45720750 45720750 single base substitution T C intron_variant MELA-AU 18 45720811 45720811 single base substitution C T intron_variant MELA-AU 18 45720820 45720820 single base substitution G A intron_variant MELA-AU 18 45720822 45720822 single base substitution G A intron_variant MELA-AU 18 45720876 45720876 single base substitution C T intron_variant MELA-AU 18 45720909 45720909 single base substitution G A intron_variant MELA-AU 18 45721067 45721067 single base substitution G A intron_variant MELA-AU 18 45721229 45721229 single base substitution G A intron_variant MELA-AU 18 45721305 45721305 single base substitution C T intron_variant MELA-AU 18 45721858 45721859 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45721929 45721929 single base substitution C T intron_variant MELA-AU 18 45722107 45722107 single base substitution C T intron_variant MELA-AU 18 45722125 45722125 single base substitution G A intron_variant MELA-AU 18 45722340 45722340 single base substitution G A intron_variant MELA-AU 18 45722522 45722522 single base substitution C T intron_variant MELA-AU 18 45722696 45722696 single base substitution C T intron_variant MELA-AU 18 45722860 45722860 single base substitution G A intron_variant MELA-AU 18 45723010 45723010 single base substitution C T intron_variant MELA-AU 18 45723025 45723025 single base substitution G A intron_variant MELA-AU 18 45723036 45723036 single base substitution C T intron_variant MELA-AU 18 45723116 45723116 single base substitution C T intron_variant MELA-AU 18 45723138 45723139 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45723158 45723158 single base substitution C T intron_variant MELA-AU 18 45723284 45723284 single base substitution C T intron_variant MELA-AU 18 45723309 45723309 single base substitution C T intron_variant MELA-AU 18 45723325 45723325 single base substitution C T intron_variant MELA-AU 18 45723466 45723466 single base substitution G A intron_variant MELA-AU 18 45723477 45723477 single base substitution A C intron_variant MELA-AU 18 45723580 45723580 single base substitution G A intron_variant MELA-AU 18 45723650 45723650 single base substitution C T intron_variant MELA-AU 18 45724122 45724122 single base substitution G A intron_variant MELA-AU 18 45724258 45724258 single base substitution C T intron_variant MELA-AU 18 45724293 45724293 single base substitution G A intron_variant MELA-AU 18 45724434 45724434 single base substitution G A intron_variant MELA-AU 18 45724547 45724547 single base substitution C T intron_variant MELA-AU 18 45724892 45724892 single base substitution C T intron_variant MELA-AU 18 45725139 45725139 single base substitution C T intron_variant MELA-AU 18 45725201 45725201 single base substitution G A intron_variant MELA-AU 18 45725424 45725424 single base substitution C T intron_variant MELA-AU 18 45725554 45725554 single base substitution G A intron_variant MELA-AU 18 45725874 45725874 single base substitution G A intron_variant MELA-AU 18 45726006 45726006 single base substitution C T intron_variant MELA-AU 18 45726049 45726049 single base substitution C T intron_variant MELA-AU 18 45726077 45726077 single base substitution C T intron_variant MELA-AU 18 45726090 45726090 single base substitution C T intron_variant MELA-AU 18 45726095 45726095 single base substitution C T intron_variant MELA-AU 18 45726537 45726537 single base substitution C T intron_variant MELA-AU 18 45726597 45726597 single base substitution G A intron_variant MELA-AU 18 45726609 45726609 single base substitution C T intron_variant MELA-AU 18 45726673 45726673 single base substitution G A intron_variant MELA-AU 18 45726698 45726698 single base substitution C T intron_variant MELA-AU 18 45726783 45726783 single base substitution C T intron_variant MELA-AU 18 45726858 45726858 single base substitution G A intron_variant MELA-AU 18 45726910 45726910 single base substitution C T intron_variant MELA-AU 18 45727128 45727128 single base substitution C T intron_variant MELA-AU 18 45727159 45727159 single base substitution G A intron_variant MELA-AU 18 45727201 45727201 single base substitution T C intron_variant MELA-AU 18 45727318 45727318 single base substitution G A intron_variant MELA-AU 18 45727397 45727397 single base substitution C T intron_variant MELA-AU 18 45727467 45727467 single base substitution C T intron_variant MELA-AU 18 45727498 45727498 single base substitution C T intron_variant MELA-AU 18 45727559 45727559 single base substitution G A intron_variant MELA-AU 18 45727712 45727713 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45727745 45727745 single base substitution G A intron_variant MELA-AU 18 45727972 45727972 single base substitution T C intron_variant MELA-AU 18 45728013 45728013 single base substitution C T intron_variant MELA-AU 18 45728035 45728035 single base substitution C T intron_variant MELA-AU 18 45728313 45728313 single base substitution G A intron_variant MELA-AU 18 45728717 45728717 single base substitution G A intron_variant MELA-AU 18 45728887 45728887 single base substitution G A intron_variant MELA-AU 18 45729117 45729117 single base substitution G A intron_variant MELA-AU 18 45729208 45729208 single base substitution C T intron_variant MELA-AU 18 45729296 45729296 single base substitution C T intron_variant MELA-AU 18 45729316 45729316 single base substitution C T intron_variant MELA-AU 18 45729359 45729359 single base substitution T A intron_variant MELA-AU 18 45729516 45729516 single base substitution C T intron_variant MELA-AU 18 45729592 45729592 single base substitution C T intron_variant MELA-AU 18 45729758 45729758 single base substitution C T intron_variant MELA-AU 18 45729767 45729767 single base substitution G A intron_variant MELA-AU 18 45730007 45730007 single base substitution C T intron_variant MELA-AU 18 45730007 45730007 single base substitution C T upstream_gene_variant MELA-AU 18 45730046 45730046 single base substitution C T intron_variant MELA-AU 18 45730046 45730046 single base substitution C T upstream_gene_variant MELA-AU 18 45730208 45730208 single base substitution G T intron_variant MELA-AU 18 45730208 45730208 single base substitution G T upstream_gene_variant MELA-AU 18 45730224 45730224 single base substitution C T intron_variant MELA-AU 18 45730224 45730224 single base substitution C T upstream_gene_variant MELA-AU 18 45730298 45730298 single base substitution A G intron_variant MELA-AU 18 45730298 45730298 single base substitution A G upstream_gene_variant MELA-AU 18 45730363 45730363 single base substitution G A intron_variant MELA-AU 18 45730363 45730363 single base substitution G A upstream_gene_variant MELA-AU 18 45730433 45730433 single base substitution C T intron_variant MELA-AU 18 45730433 45730433 single base substitution C T upstream_gene_variant MELA-AU 18 45730461 45730461 single base substitution C T intron_variant MELA-AU 18 45730461 45730461 single base substitution C T upstream_gene_variant MELA-AU 18 45730476 45730477 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45730476 45730477 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 45730628 45730628 single base substitution C T intron_variant MELA-AU 18 45730628 45730628 single base substitution C T upstream_gene_variant MELA-AU 18 45730655 45730655 single base substitution C T intron_variant MELA-AU 18 45730655 45730655 single base substitution C T upstream_gene_variant MELA-AU 18 45730669 45730669 single base substitution C T intron_variant MELA-AU 18 45730669 45730669 single base substitution C T upstream_gene_variant MELA-AU 18 45730773 45730773 single base substitution G A intron_variant MELA-AU 18 45730773 45730773 single base substitution G A upstream_gene_variant MELA-AU 18 45730837 45730837 single base substitution G A intron_variant MELA-AU 18 45730837 45730837 single base substitution G A upstream_gene_variant MELA-AU 18 45731119 45731119 single base substitution C T intron_variant MELA-AU 18 45731119 45731119 single base substitution C T upstream_gene_variant MELA-AU 18 45731211 45731211 single base substitution C T intron_variant MELA-AU 18 45731211 45731211 single base substitution C T upstream_gene_variant MELA-AU 18 45731217 45731217 single base substitution G A intron_variant MELA-AU 18 45731217 45731217 single base substitution G A upstream_gene_variant MELA-AU 18 45731220 45731220 single base substitution G A intron_variant MELA-AU 18 45731220 45731220 single base substitution G A upstream_gene_variant MELA-AU 18 45731343 45731343 single base substitution G C intron_variant MELA-AU 18 45731343 45731343 single base substitution G C upstream_gene_variant MELA-AU 18 45731367 45731367 single base substitution G A intron_variant MELA-AU 18 45731367 45731367 single base substitution G A upstream_gene_variant MELA-AU 18 45731378 45731378 single base substitution G A intron_variant MELA-AU 18 45731378 45731378 single base substitution G A upstream_gene_variant MELA-AU 18 45731475 45731475 single base substitution G A intron_variant MELA-AU 18 45731475 45731475 single base substitution G A upstream_gene_variant MELA-AU 18 45731637 45731637 single base substitution C T intron_variant MELA-AU 18 45731637 45731637 single base substitution C T upstream_gene_variant MELA-AU 18 45731868 45731868 single base substitution G A intron_variant MELA-AU 18 45731868 45731868 single base substitution G A upstream_gene_variant MELA-AU 18 45732043 45732043 single base substitution C T intron_variant MELA-AU 18 45732043 45732043 single base substitution C T upstream_gene_variant MELA-AU 18 45732285 45732285 single base substitution C T intron_variant MELA-AU 18 45732285 45732285 single base substitution C T upstream_gene_variant MELA-AU 18 45732346 45732346 single base substitution C T intron_variant MELA-AU 18 45732346 45732346 single base substitution C T upstream_gene_variant MELA-AU 18 45732427 45732427 single base substitution C T intron_variant MELA-AU 18 45732427 45732427 single base substitution C T upstream_gene_variant MELA-AU 18 45732606 45732606 single base substitution G A intron_variant MELA-AU 18 45732606 45732606 single base substitution G A upstream_gene_variant MELA-AU 18 45732716 45732716 single base substitution G T intron_variant MELA-AU 18 45732716 45732716 single base substitution G T upstream_gene_variant MELA-AU 18 45732907 45732907 single base substitution T A intron_variant MELA-AU 18 45732907 45732907 single base substitution T A upstream_gene_variant MELA-AU 18 45733083 45733083 single base substitution C T intron_variant MELA-AU 18 45733083 45733083 single base substitution C T upstream_gene_variant MELA-AU 18 45733092 45733092 single base substitution C T intron_variant MELA-AU 18 45733092 45733092 single base substitution C T upstream_gene_variant MELA-AU 18 45733184 45733184 single base substitution C T intron_variant MELA-AU 18 45733184 45733184 single base substitution C T upstream_gene_variant MELA-AU 18 45733400 45733400 single base substitution G A intron_variant MELA-AU 18 45733400 45733400 single base substitution G A upstream_gene_variant MELA-AU 18 45733432 45733432 single base substitution G A intron_variant MELA-AU 18 45733432 45733432 single base substitution G A upstream_gene_variant MELA-AU 18 45733437 45733437 single base substitution C T intron_variant MELA-AU 18 45733437 45733437 single base substitution C T upstream_gene_variant MELA-AU 18 45733539 45733539 single base substitution G A intron_variant MELA-AU 18 45733539 45733539 single base substitution G A upstream_gene_variant MELA-AU 18 45733749 45733749 single base substitution T G intron_variant MELA-AU 18 45733749 45733749 single base substitution T G upstream_gene_variant MELA-AU 18 45733802 45733802 single base substitution G A intron_variant MELA-AU 18 45733802 45733802 single base substitution G A upstream_gene_variant MELA-AU 18 45734009 45734009 single base substitution G A intron_variant MELA-AU 18 45734009 45734009 single base substitution G A upstream_gene_variant MELA-AU 18 45734021 45734021 single base substitution C T intron_variant MELA-AU 18 45734021 45734021 single base substitution C T upstream_gene_variant MELA-AU 18 45734311 45734311 single base substitution G A intron_variant MELA-AU 18 45734311 45734311 single base substitution G A upstream_gene_variant MELA-AU 18 45734488 45734489 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45734488 45734489 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 45734631 45734631 single base substitution G A intron_variant MELA-AU 18 45734631 45734631 single base substitution G A upstream_gene_variant MELA-AU 18 45734645 45734645 single base substitution G A intron_variant MELA-AU 18 45734645 45734645 single base substitution G A upstream_gene_variant MELA-AU 18 45734684 45734684 single base substitution A C intron_variant MELA-AU 18 45734684 45734684 single base substitution A C upstream_gene_variant MELA-AU 18 45734929 45734929 single base substitution G A intron_variant MELA-AU 18 45734929 45734929 single base substitution G A upstream_gene_variant MELA-AU 18 45735053 45735053 single base substitution C T intron_variant MELA-AU 18 45735054 45735054 single base substitution C T intron_variant MELA-AU 18 45735066 45735066 single base substitution C T intron_variant MELA-AU 18 45735145 45735145 single base substitution C T intron_variant MELA-AU 18 45735151 45735152 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45735242 45735242 single base substitution C T intron_variant MELA-AU 18 45735265 45735265 single base substitution G A intron_variant MELA-AU 18 45735670 45735670 single base substitution C T intron_variant MELA-AU 18 45735680 45735680 single base substitution G A intron_variant MELA-AU 18 45735901 45735901 single base substitution G A intron_variant MELA-AU 18 45735994 45735994 single base substitution G A intron_variant MELA-AU 18 45736037 45736037 single base substitution G A intron_variant MELA-AU 18 45736158 45736158 single base substitution C T intron_variant MELA-AU 18 45736228 45736228 single base substitution G A intron_variant MELA-AU 18 45736239 45736239 single base substitution A T intron_variant MELA-AU 18 45736308 45736308 single base substitution T G intron_variant MELA-AU 18 45736334 45736334 single base substitution G A intron_variant MELA-AU 18 45736834 45736834 single base substitution G A intron_variant MELA-AU 18 45736845 45736845 single base substitution C T intron_variant MELA-AU 18 45736939 45736939 single base substitution C T intron_variant MELA-AU 18 45737060 45737060 single base substitution G A intron_variant MELA-AU 18 45737220 45737220 single base substitution C T intron_variant MELA-AU 18 45737593 45737593 single base substitution G A intron_variant MELA-AU 18 45737607 45737607 single base substitution C T intron_variant MELA-AU 18 45737621 45737621 single base substitution G A intron_variant MELA-AU 18 45738056 45738056 single base substitution A G intron_variant MELA-AU 18 45738404 45738404 single base substitution G A intron_variant MELA-AU 18 45738591 45738591 deletion of <=200bp A - intron_variant MELA-AU 18 45738598 45738598 single base substitution C T intron_variant MELA-AU 18 45738703 45738703 single base substitution G A intron_variant MELA-AU 18 45739069 45739069 single base substitution G C intron_variant MELA-AU 18 45739250 45739250 single base substitution C T intron_variant MELA-AU 18 45739259 45739259 single base substitution C T intron_variant MELA-AU 18 45739384 45739384 single base substitution C T intron_variant MELA-AU 18 45739395 45739395 single base substitution C A intron_variant MELA-AU 18 45739447 45739447 single base substitution C T intron_variant MELA-AU 18 45739807 45739807 single base substitution G A intron_variant MELA-AU 18 45739829 45739829 single base substitution T A intron_variant MELA-AU 18 45739886 45739886 single base substitution C T intron_variant MELA-AU 18 45740110 45740110 single base substitution G A intron_variant MELA-AU 18 45740159 45740159 single base substitution G A intron_variant MELA-AU 18 45740205 45740206 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 18 45740211 45740211 single base substitution C T intron_variant MELA-AU 18 45740424 45740424 single base substitution C T intron_variant MELA-AU 18 45740527 45740527 single base substitution C T intron_variant MELA-AU 18 45740662 45740662 single base substitution C T intron_variant MELA-AU 18 45740663 45740663 single base substitution C T intron_variant MELA-AU 18 45740672 45740672 single base substitution C T intron_variant MELA-AU 18 45740684 45740684 single base substitution C T intron_variant MELA-AU 18 45740920 45740920 single base substitution G A intron_variant MELA-AU 18 45740972 45740972 single base substitution G A intron_variant MELA-AU 18 45741074 45741074 single base substitution C T intron_variant MELA-AU 18 45741364 45741364 single base substitution A T intron_variant MELA-AU 18 45741414 45741414 single base substitution C T intron_variant MELA-AU 18 45741493 45741493 single base substitution G A intron_variant MELA-AU 18 45741523 45741523 single base substitution C T intron_variant MELA-AU 18 45741607 45741607 single base substitution C T intron_variant MELA-AU 18 45742086 45742087 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45742131 45742131 single base substitution G A intron_variant MELA-AU 18 45742268 45742268 single base substitution C T intron_variant MELA-AU 18 45742435 45742435 single base substitution C T intron_variant MELA-AU 18 45742437 45742437 single base substitution C T intron_variant MELA-AU 18 45742638 45742638 single base substitution A C intron_variant MELA-AU 18 45742903 45742903 single base substitution G A intron_variant MELA-AU 18 45743196 45743196 single base substitution C G intron_variant MELA-AU 18 45743200 45743200 single base substitution G A intron_variant MELA-AU 18 45743340 45743340 single base substitution G A intron_variant MELA-AU 18 45743471 45743471 single base substitution C T intron_variant MELA-AU 18 45743514 45743514 single base substitution C T intron_variant MELA-AU 18 45743637 45743637 single base substitution C T intron_variant MELA-AU 18 45743687 45743687 single base substitution C T intron_variant MELA-AU 18 45743849 45743849 single base substitution G T intron_variant MELA-AU 18 45744041 45744041 single base substitution T A intron_variant MELA-AU 18 45744044 45744044 single base substitution C T intron_variant MELA-AU 18 45744235 45744235 single base substitution C T intron_variant MELA-AU 18 45744256 45744256 single base substitution G A intron_variant MELA-AU 18 45744722 45744722 single base substitution C T intron_variant MELA-AU 18 45744798 45744798 single base substitution G A intron_variant MELA-AU 18 45745436 45745436 single base substitution C T intron_variant MELA-AU 18 45745548 45745548 single base substitution G A intron_variant MELA-AU 18 45745802 45745802 single base substitution C T intron_variant MELA-AU 18 45746039 45746039 single base substitution G A intron_variant MELA-AU 18 45746209 45746209 single base substitution G A intron_variant MELA-AU 18 45746543 45746543 single base substitution C T intron_variant MELA-AU 18 45746998 45746998 single base substitution G A intron_variant MELA-AU 18 45747045 45747045 single base substitution C T intron_variant MELA-AU 18 45747166 45747166 single base substitution C A intron_variant MELA-AU 18 45747415 45747415 single base substitution C T intron_variant MELA-AU 18 45747426 45747426 single base substitution C T intron_variant MELA-AU 18 45747455 45747455 single base substitution C T intron_variant MELA-AU 18 45747563 45747563 single base substitution C T intron_variant MELA-AU 18 45747637 45747637 single base substitution C T intron_variant MELA-AU 18 45747687 45747687 single base substitution C T intron_variant MELA-AU 18 45747731 45747731 single base substitution C T intron_variant MELA-AU 18 45747761 45747761 single base substitution C T intron_variant MELA-AU 18 45747908 45747908 single base substitution C T intron_variant MELA-AU 18 45748030 45748030 single base substitution C T intron_variant MELA-AU 18 45748124 45748124 single base substitution C T intron_variant MELA-AU 18 45748133 45748133 single base substitution C T intron_variant MELA-AU 18 45748144 45748144 single base substitution C T intron_variant MELA-AU 18 45748337 45748337 single base substitution C T intron_variant MELA-AU 18 45748497 45748497 single base substitution C T intron_variant MELA-AU 18 45748752 45748752 single base substitution C T intron_variant MELA-AU 18 45748753 45748753 single base substitution C T intron_variant MELA-AU 18 45748922 45748922 single base substitution G A intron_variant MELA-AU 18 45749011 45749011 single base substitution C T intron_variant MELA-AU 18 45749163 45749163 single base substitution C T intron_variant MELA-AU 18 45749257 45749257 single base substitution G A intron_variant MELA-AU 18 45749389 45749389 single base substitution C T intron_variant MELA-AU 18 45749684 45749684 single base substitution C T intron_variant MELA-AU 18 45749741 45749741 single base substitution G A intron_variant MELA-AU 18 45749772 45749772 deletion of <=200bp C - intron_variant MELA-AU 18 45750039 45750039 single base substitution C T intron_variant MELA-AU 18 45750168 45750168 single base substitution G A intron_variant MELA-AU 18 45750192 45750192 single base substitution C T intron_variant MELA-AU 18 45750204 45750204 single base substitution G A intron_variant MELA-AU 18 45750298 45750298 single base substitution G A intron_variant MELA-AU 18 45750336 45750336 single base substitution C T intron_variant MELA-AU 18 45750350 45750350 single base substitution G A intron_variant MELA-AU 18 45750435 45750435 single base substitution G A intron_variant MELA-AU 18 45750607 45750607 single base substitution C T intron_variant MELA-AU 18 45750644 45750644 single base substitution C T intron_variant MELA-AU 18 45750663 45750663 single base substitution C T intron_variant MELA-AU 18 45750681 45750681 single base substitution G A intron_variant MELA-AU 18 45750829 45750829 single base substitution C T intron_variant MELA-AU 18 45750920 45750920 single base substitution C T intron_variant MELA-AU 18 45751087 45751087 single base substitution C T intron_variant MELA-AU 18 45751616 45751616 single base substitution G A intron_variant MELA-AU 18 45751635 45751635 single base substitution G A intron_variant MELA-AU 18 45751639 45751639 single base substitution G A intron_variant MELA-AU 18 45751656 45751656 single base substitution G A intron_variant MELA-AU 18 45751668 45751668 single base substitution G A intron_variant MELA-AU 18 45751692 45751692 single base substitution G A intron_variant MELA-AU 18 45751737 45751737 single base substitution G A intron_variant MELA-AU 18 45751874 45751874 single base substitution C T intron_variant MELA-AU 18 45752022 45752022 single base substitution G A intron_variant MELA-AU 18 45752076 45752076 single base substitution C T intron_variant MELA-AU 18 45752223 45752223 single base substitution C T intron_variant MELA-AU 18 45752416 45752416 single base substitution G A intron_variant MELA-AU 18 45752505 45752506 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45752841 45752841 single base substitution G A intron_variant MELA-AU 18 45752855 45752855 single base substitution T A intron_variant MELA-AU 18 45752983 45752983 single base substitution A G intron_variant MELA-AU 18 45753014 45753014 single base substitution G A intron_variant MELA-AU 18 45753193 45753193 single base substitution G A intron_variant MELA-AU 18 45753272 45753273 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45753917 45753917 single base substitution G A intron_variant MELA-AU 18 45753924 45753924 single base substitution C T intron_variant MELA-AU 18 45753992 45753992 single base substitution G A intron_variant MELA-AU 18 45754087 45754087 single base substitution C T intron_variant MELA-AU 18 45754126 45754126 single base substitution G A intron_variant MELA-AU 18 45754320 45754320 single base substitution G A intron_variant MELA-AU 18 45754366 45754367 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45754441 45754441 single base substitution C T intron_variant MELA-AU 18 45754742 45754742 single base substitution C T intron_variant MELA-AU 18 45754946 45754946 single base substitution G A intron_variant MELA-AU 18 45755470 45755470 single base substitution C T intron_variant MELA-AU 18 45755614 45755614 single base substitution C T intron_variant MELA-AU 18 45755863 45755863 single base substitution C T intron_variant MELA-AU 18 45755921 45755921 single base substitution G A intron_variant MELA-AU 18 45756244 45756244 single base substitution C T intron_variant MELA-AU 18 45756347 45756347 single base substitution C T intron_variant MELA-AU 18 45756352 45756352 single base substitution C T intron_variant MELA-AU 18 45756388 45756388 single base substitution G A intron_variant MELA-AU 18 45756409 45756409 single base substitution G A intron_variant MELA-AU 18 45756792 45756792 single base substitution C T intron_variant MELA-AU 18 45756876 45756876 single base substitution C T intron_variant MELA-AU 18 45756988 45756988 single base substitution G A intron_variant MELA-AU 18 45757378 45757378 single base substitution G A intron_variant MELA-AU 18 45757643 45757643 single base substitution C T intron_variant MELA-AU 18 45757808 45757808 single base substitution G A intron_variant MELA-AU 18 45758121 45758121 single base substitution G A intron_variant MELA-AU 18 45758128 45758128 single base substitution G A intron_variant MELA-AU 18 45758159 45758159 single base substitution G A intron_variant MELA-AU 18 45758198 45758198 single base substitution C T intron_variant MELA-AU 18 45758361 45758361 single base substitution G A intron_variant MELA-AU 18 45758388 45758388 single base substitution C T intron_variant MELA-AU 18 45758399 45758399 single base substitution C T intron_variant MELA-AU 18 45758483 45758483 single base substitution G A intron_variant MELA-AU 18 45758559 45758559 single base substitution C T intron_variant MELA-AU 18 45758763 45758763 single base substitution C T intron_variant MELA-AU 18 45758800 45758800 single base substitution A G intron_variant MELA-AU 18 45759002 45759002 single base substitution G A intron_variant MELA-AU 18 45759067 45759067 single base substitution G A intron_variant MELA-AU 18 45759135 45759135 single base substitution C T intron_variant MELA-AU 18 45759348 45759348 single base substitution G T intron_variant MELA-AU 18 45759369 45759369 single base substitution G A intron_variant MELA-AU 18 45759433 45759434 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45759624 45759625 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45759635 45759635 single base substitution C T intron_variant MELA-AU 18 45759864 45759864 single base substitution C T intron_variant MELA-AU 18 45759872 45759872 single base substitution G A intron_variant MELA-AU 18 45760224 45760224 single base substitution C T intron_variant MELA-AU 18 45760240 45760240 single base substitution G A intron_variant MELA-AU 18 45760531 45760531 single base substitution A G intron_variant MELA-AU 18 45760619 45760619 single base substitution C T intron_variant MELA-AU 18 45760649 45760649 single base substitution C T intron_variant MELA-AU 18 45761187 45761187 single base substitution G A intron_variant MELA-AU 18 45761203 45761203 single base substitution C T intron_variant MELA-AU 18 45761235 45761235 single base substitution G A intron_variant MELA-AU 18 45761263 45761263 single base substitution G A intron_variant MELA-AU 18 45761386 45761386 single base substitution C T intron_variant MELA-AU 18 45761484 45761484 single base substitution C T intron_variant MELA-AU 18 45761496 45761496 single base substitution A T intron_variant MELA-AU 18 45761604 45761604 single base substitution C T intron_variant MELA-AU 18 45761640 45761640 single base substitution T C intron_variant MELA-AU 18 45761865 45761865 single base substitution G A intron_variant MELA-AU 18 45762132 45762132 single base substitution C T intron_variant MELA-AU 18 45762159 45762159 single base substitution A T intron_variant MELA-AU 18 45762184 45762184 single base substitution T C intron_variant MELA-AU 18 45762196 45762196 single base substitution G A intron_variant MELA-AU 18 45762209 45762209 single base substitution C A intron_variant MELA-AU 18 45762248 45762248 single base substitution G A intron_variant MELA-AU 18 45762276 45762276 single base substitution G C intron_variant MELA-AU 18 45762285 45762285 single base substitution C T intron_variant MELA-AU 18 45762349 45762349 single base substitution G A intron_variant MELA-AU 18 45762567 45762567 single base substitution C A intron_variant MELA-AU 18 45762602 45762602 single base substitution C T intron_variant MELA-AU 18 45762704 45762704 single base substitution C T intron_variant MELA-AU 18 45762798 45762798 single base substitution G A intron_variant MELA-AU 18 45762800 45762800 single base substitution G A intron_variant MELA-AU 18 45763010 45763010 single base substitution G A intron_variant MELA-AU 18 45763081 45763081 single base substitution G A intron_variant MELA-AU 18 45763200 45763200 single base substitution C T intron_variant MELA-AU 18 45763301 45763301 single base substitution G A intron_variant MELA-AU 18 45763320 45763320 single base substitution G A intron_variant MELA-AU 18 45763354 45763355 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45763470 45763470 single base substitution T G intron_variant MELA-AU 18 45763598 45763598 single base substitution C T intron_variant MELA-AU 18 45763739 45763739 single base substitution C T intron_variant MELA-AU 18 45763796 45763796 single base substitution G A intron_variant MELA-AU 18 45763846 45763846 single base substitution G A intron_variant MELA-AU 18 45763874 45763874 single base substitution G A intron_variant MELA-AU 18 45763906 45763906 single base substitution C A intron_variant MELA-AU 18 45764040 45764040 single base substitution A G intron_variant MELA-AU 18 45764196 45764196 single base substitution G A intron_variant MELA-AU 18 45764199 45764199 single base substitution A T intron_variant MELA-AU 18 45764270 45764270 single base substitution G A intron_variant MELA-AU 18 45764432 45764432 single base substitution A T intron_variant MELA-AU 18 45764873 45764873 single base substitution C T intron_variant MELA-AU 18 45764889 45764889 single base substitution G A intron_variant MELA-AU 18 45764947 45764947 single base substitution G A intron_variant MELA-AU 18 45765091 45765091 single base substitution G A intron_variant MELA-AU 18 45765120 45765120 single base substitution T A intron_variant MELA-AU 18 45765255 45765255 single base substitution T C intron_variant MELA-AU 18 45765263 45765263 single base substitution G T intron_variant MELA-AU 18 45765470 45765470 single base substitution C T intron_variant MELA-AU 18 45765488 45765488 single base substitution C T intron_variant MELA-AU 18 45765515 45765515 single base substitution C T intron_variant MELA-AU 18 45766061 45766061 single base substitution C T intron_variant MELA-AU 18 45766065 45766065 single base substitution C T intron_variant MELA-AU 18 45766235 45766235 single base substitution G A intron_variant MELA-AU 18 45766346 45766346 single base substitution G A intron_variant MELA-AU 18 45766661 45766661 single base substitution G A intron_variant MELA-AU 18 45766870 45766870 single base substitution C T intron_variant MELA-AU 18 45766905 45766905 single base substitution C T intron_variant MELA-AU 18 45766948 45766948 single base substitution T A intron_variant MELA-AU 18 45766984 45766984 single base substitution G A intron_variant MELA-AU 18 45767088 45767089 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45767352 45767352 single base substitution G A intron_variant MELA-AU 18 45767393 45767393 single base substitution G A intron_variant MELA-AU 18 45767406 45767406 single base substitution G A intron_variant MELA-AU 18 45767492 45767492 single base substitution G A intron_variant MELA-AU 18 45767514 45767514 single base substitution G A intron_variant MELA-AU 18 45767522 45767522 single base substitution C T intron_variant MELA-AU 18 45767707 45767707 single base substitution C T intron_variant MELA-AU 18 45767743 45767743 single base substitution G A intron_variant MELA-AU 18 45767794 45767794 single base substitution G A intron_variant MELA-AU 18 45767801 45767801 single base substitution C T intron_variant MELA-AU 18 45767804 45767804 single base substitution C T intron_variant MELA-AU 18 45767864 45767864 single base substitution G A intron_variant MELA-AU 18 45767921 45767921 single base substitution G A intron_variant MELA-AU 18 45767947 45767947 single base substitution G A intron_variant MELA-AU 18 45768194 45768194 single base substitution C T intron_variant MELA-AU 18 45768198 45768198 single base substitution C A intron_variant MELA-AU 18 45768208 45768208 single base substitution G A intron_variant MELA-AU 18 45768296 45768296 single base substitution G A intron_variant MELA-AU 18 45768340 45768340 single base substitution G A intron_variant MELA-AU 18 45768375 45768375 single base substitution G A intron_variant MELA-AU 18 45768471 45768471 single base substitution G A intron_variant MELA-AU 18 45768477 45768477 single base substitution G A intron_variant MELA-AU 18 45768485 45768485 single base substitution C T intron_variant MELA-AU 18 45768502 45768502 single base substitution C T intron_variant MELA-AU 18 45768504 45768504 single base substitution C T intron_variant MELA-AU 18 45768749 45768749 single base substitution G A intron_variant MELA-AU 18 45768814 45768814 single base substitution C T intron_variant MELA-AU 18 45768888 45768888 single base substitution C T intron_variant MELA-AU 18 45768936 45768936 single base substitution G A intron_variant MELA-AU 18 45768953 45768953 single base substitution G A intron_variant MELA-AU 18 45769021 45769021 single base substitution C G intron_variant MELA-AU 18 45769122 45769123 multiple base substitution (>=2bp and <=200bp) AG TC intron_variant MELA-AU 18 45769144 45769144 single base substitution C T intron_variant MELA-AU 18 45769239 45769239 single base substitution G A intron_variant MELA-AU 18 45769259 45769259 single base substitution C T intron_variant MELA-AU 18 45769301 45769301 single base substitution G A intron_variant MELA-AU 18 45769414 45769414 single base substitution C T intron_variant MELA-AU 18 45769446 45769446 single base substitution G A intron_variant MELA-AU 18 45769519 45769519 single base substitution C T intron_variant MELA-AU 18 45769618 45769618 single base substitution G A intron_variant MELA-AU 18 45769638 45769638 single base substitution C T intron_variant MELA-AU 18 45769911 45769911 single base substitution G A intron_variant MELA-AU 18 45769920 45769920 single base substitution C T intron_variant MELA-AU 18 45769994 45769994 single base substitution G A intron_variant MELA-AU 18 45770055 45770055 single base substitution C T intron_variant MELA-AU 18 45770061 45770061 single base substitution G A intron_variant MELA-AU 18 45770193 45770193 single base substitution T C intron_variant MELA-AU 18 45770467 45770467 single base substitution C T intron_variant MELA-AU 18 45770616 45770616 single base substitution C T intron_variant MELA-AU 18 45770680 45770680 single base substitution G A intron_variant MELA-AU 18 45770719 45770719 single base substitution G A intron_variant MELA-AU 18 45770780 45770780 single base substitution C T intron_variant MELA-AU 18 45770915 45770915 single base substitution C T intron_variant MELA-AU 18 45771054 45771054 single base substitution G A intron_variant MELA-AU 18 45771083 45771083 single base substitution G A intron_variant MELA-AU 18 45771243 45771243 single base substitution G A intron_variant MELA-AU 18 45771305 45771305 single base substitution C T intron_variant MELA-AU 18 45771522 45771522 single base substitution G A intron_variant MELA-AU 18 45771987 45771987 single base substitution T C intron_variant MELA-AU 18 45771992 45771992 single base substitution G A intron_variant MELA-AU 18 45772051 45772051 single base substitution G A intron_variant MELA-AU 18 45772234 45772234 single base substitution G A intron_variant MELA-AU 18 45772264 45772264 single base substitution G A intron_variant MELA-AU 18 45772450 45772450 single base substitution G A intron_variant MELA-AU 18 45772452 45772452 single base substitution A T intron_variant MELA-AU 18 45772503 45772503 single base substitution C T intron_variant MELA-AU 18 45772550 45772550 single base substitution G A intron_variant MELA-AU 18 45772696 45772696 single base substitution G A intron_variant MELA-AU 18 45772755 45772755 single base substitution C T intron_variant MELA-AU 18 45772788 45772788 single base substitution G A intron_variant MELA-AU 18 45772896 45772896 single base substitution G A intron_variant MELA-AU 18 45772942 45772942 single base substitution C T intron_variant MELA-AU 18 45772944 45772944 single base substitution C T intron_variant MELA-AU 18 45772951 45772951 single base substitution G A intron_variant MELA-AU 18 45772970 45772970 single base substitution G A intron_variant MELA-AU 18 45772975 45772975 single base substitution G A intron_variant MELA-AU 18 45773010 45773010 single base substitution C T intron_variant MELA-AU 18 45773140 45773140 single base substitution C T intron_variant MELA-AU 18 45773720 45773720 single base substitution G A intron_variant MELA-AU 18 45773831 45773831 single base substitution C T intron_variant MELA-AU 18 45773848 45773848 single base substitution C T intron_variant MELA-AU 18 45773893 45773893 single base substitution C T intron_variant MELA-AU 18 45774000 45774000 single base substitution T A intron_variant MELA-AU 18 45774198 45774198 single base substitution C T intron_variant MELA-AU 18 45774296 45774296 single base substitution C T intron_variant MELA-AU 18 45774534 45774534 single base substitution C T intron_variant MELA-AU 18 45774604 45774604 single base substitution C T intron_variant MELA-AU 18 45774623 45774623 single base substitution C T intron_variant MELA-AU 18 45774783 45774783 single base substitution C T intron_variant MELA-AU 18 45774844 45774844 single base substitution C T intron_variant MELA-AU 18 45774870 45774870 single base substitution T A intron_variant MELA-AU 18 45775024 45775024 single base substitution G A intron_variant MELA-AU 18 45775069 45775069 single base substitution A C intron_variant MELA-AU 18 45775338 45775338 single base substitution C T intron_variant MELA-AU 18 45775533 45775533 single base substitution G A intron_variant MELA-AU 18 45775583 45775583 single base substitution G A intron_variant MELA-AU 18 45775641 45775641 single base substitution C T intron_variant MELA-AU 18 45775872 45775872 single base substitution A G intron_variant MELA-AU 18 45776068 45776069 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45776076 45776076 single base substitution C T intron_variant MELA-AU 18 45776356 45776356 single base substitution G A intron_variant MELA-AU 18 45776378 45776378 single base substitution A G intron_variant MELA-AU 18 45776535 45776535 single base substitution C T intron_variant MELA-AU 18 45776618 45776618 single base substitution C T intron_variant MELA-AU 18 45776622 45776622 single base substitution C T intron_variant MELA-AU 18 45776952 45776952 single base substitution C T intron_variant MELA-AU 18 45776977 45776977 single base substitution G A intron_variant MELA-AU 18 45777019 45777019 single base substitution G A intron_variant MELA-AU 18 45777090 45777090 single base substitution A T intron_variant MELA-AU 18 45777242 45777242 single base substitution C T intron_variant MELA-AU 18 45777546 45777546 single base substitution G A intron_variant MELA-AU 18 45777724 45777724 single base substitution G A intron_variant MELA-AU 18 45777728 45777728 single base substitution C T intron_variant MELA-AU 18 45777733 45777733 single base substitution G A intron_variant MELA-AU 18 45777775 45777775 single base substitution G A intron_variant MELA-AU 18 45777815 45777815 single base substitution G A intron_variant MELA-AU 18 45777820 45777820 single base substitution C T intron_variant MELA-AU 18 45777947 45777947 single base substitution G A intron_variant MELA-AU 18 45777978 45777978 single base substitution C T intron_variant MELA-AU 18 45778007 45778007 single base substitution C T intron_variant MELA-AU 18 45778100 45778100 single base substitution C T intron_variant MELA-AU 18 45778189 45778189 single base substitution C T intron_variant MELA-AU 18 45778190 45778190 single base substitution C T intron_variant MELA-AU 18 45778208 45778208 single base substitution G A intron_variant MELA-AU 18 45778252 45778252 single base substitution G T intron_variant MELA-AU 18 45778594 45778594 single base substitution G A 5_prime_UTR_variant MELA-AU 18 45778594 45778594 single base substitution G A intron_variant MELA-AU 18 45778873 45778873 single base substitution G A intron_variant MELA-AU 18 45779048 45779048 single base substitution C T intron_variant MELA-AU 18 45779078 45779078 single base substitution C T intron_variant MELA-AU 18 45779118 45779118 single base substitution C T intron_variant MELA-AU 18 45779167 45779167 single base substitution C T intron_variant MELA-AU 18 45779185 45779185 single base substitution A T intron_variant MELA-AU 18 45779334 45779334 single base substitution C T intron_variant MELA-AU 18 45779477 45779477 single base substitution C T intron_variant MELA-AU 18 45779488 45779488 single base substitution G A intron_variant MELA-AU 18 45779677 45779677 single base substitution C T intron_variant MELA-AU 18 45779723 45779723 single base substitution G A intron_variant MELA-AU 18 45779771 45779771 single base substitution G A intron_variant MELA-AU 18 45779964 45779965 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45780108 45780108 single base substitution G A intron_variant MELA-AU 18 45780177 45780177 single base substitution C T intron_variant MELA-AU 18 45780220 45780220 single base substitution C T intron_variant MELA-AU 18 45780382 45780382 single base substitution G A intron_variant MELA-AU 18 45780511 45780511 single base substitution G A intron_variant MELA-AU 18 45780579 45780579 single base substitution G A intron_variant MELA-AU 18 45780598 45780598 single base substitution G A intron_variant MELA-AU 18 45780888 45780888 single base substitution C T intron_variant MELA-AU 18 45780919 45780919 single base substitution C T intron_variant MELA-AU 18 45781006 45781006 single base substitution G A intron_variant MELA-AU 18 45781008 45781008 single base substitution A G intron_variant MELA-AU 18 45781039 45781039 single base substitution G A intron_variant MELA-AU 18 45781135 45781135 single base substitution G A intron_variant MELA-AU 18 45781387 45781387 single base substitution C T intron_variant MELA-AU 18 45781469 45781469 single base substitution G A intron_variant MELA-AU 18 45781609 45781609 single base substitution C T intron_variant MELA-AU 18 45781888 45781888 single base substitution C T intron_variant MELA-AU 18 45781918 45781918 single base substitution G C intron_variant MELA-AU 18 45781947 45781947 single base substitution G A intron_variant MELA-AU 18 45782051 45782051 single base substitution G A intron_variant MELA-AU 18 45782130 45782130 single base substitution C G intron_variant MELA-AU 18 45782176 45782176 single base substitution G A intron_variant MELA-AU 18 45782205 45782205 single base substitution G A intron_variant MELA-AU 18 45782252 45782252 single base substitution C T intron_variant MELA-AU 18 45782273 45782273 single base substitution C T intron_variant MELA-AU 18 45782395 45782395 single base substitution G A intron_variant MELA-AU 18 45782518 45782518 single base substitution C T intron_variant MELA-AU 18 45782624 45782624 single base substitution C T intron_variant MELA-AU 18 45782757 45782757 single base substitution G A intron_variant MELA-AU 18 45782774 45782774 single base substitution G A intron_variant MELA-AU 18 45782775 45782775 single base substitution G A intron_variant MELA-AU 18 45782788 45782788 single base substitution G A intron_variant MELA-AU 18 45782832 45782832 single base substitution C T intron_variant MELA-AU 18 45782940 45782940 single base substitution G A intron_variant MELA-AU 18 45782967 45782967 single base substitution G A intron_variant MELA-AU 18 45783206 45783206 single base substitution C T intron_variant MELA-AU 18 45783262 45783262 deletion of <=200bp A - intron_variant MELA-AU 18 45783310 45783310 single base substitution G A intron_variant MELA-AU 18 45783358 45783358 single base substitution G A intron_variant MELA-AU 18 45783426 45783426 single base substitution A T intron_variant MELA-AU 18 45783514 45783514 single base substitution G A intron_variant MELA-AU 18 45783762 45783762 single base substitution C T intron_variant MELA-AU 18 45783799 45783799 single base substitution C T intron_variant MELA-AU 18 45783844 45783844 single base substitution C T intron_variant MELA-AU 18 45784027 45784027 single base substitution G A intron_variant MELA-AU 18 45784061 45784061 single base substitution A G intron_variant MELA-AU 18 45784075 45784075 single base substitution C T intron_variant MELA-AU 18 45784220 45784220 single base substitution C T intron_variant MELA-AU 18 45784399 45784399 single base substitution C T intron_variant MELA-AU 18 45784407 45784407 single base substitution G A intron_variant MELA-AU 18 45784408 45784408 single base substitution G A intron_variant MELA-AU 18 45784508 45784508 single base substitution G A intron_variant MELA-AU 18 45784630 45784630 single base substitution C T intron_variant MELA-AU 18 45784808 45784808 single base substitution G A intron_variant MELA-AU 18 45784814 45784814 single base substitution G A intron_variant MELA-AU 18 45785165 45785165 single base substitution G A intron_variant MELA-AU 18 45785310 45785310 single base substitution G A intron_variant MELA-AU 18 45785323 45785323 single base substitution C T intron_variant MELA-AU 18 45785384 45785384 single base substitution G A intron_variant MELA-AU 18 45785519 45785519 single base substitution C T intron_variant MELA-AU 18 45785598 45785598 single base substitution G A intron_variant MELA-AU 18 45785665 45785665 single base substitution G A intron_variant MELA-AU 18 45785671 45785671 single base substitution G A intron_variant MELA-AU 18 45785712 45785712 single base substitution C T intron_variant MELA-AU 18 45785768 45785768 single base substitution G A intron_variant MELA-AU 18 45785861 45785861 single base substitution C T intron_variant MELA-AU 18 45785905 45785905 single base substitution G A intron_variant MELA-AU 18 45785941 45785941 single base substitution C T intron_variant MELA-AU 18 45786155 45786155 single base substitution G A intron_variant MELA-AU 18 45786183 45786183 single base substitution T A intron_variant MELA-AU 18 45786289 45786289 single base substitution G A intron_variant MELA-AU 18 45786678 45786678 single base substitution G A intron_variant MELA-AU 18 45786711 45786712 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45786732 45786732 single base substitution G A intron_variant MELA-AU 18 45786737 45786737 single base substitution G A intron_variant MELA-AU 18 45786790 45786790 single base substitution G A intron_variant MELA-AU 18 45786884 45786884 single base substitution C T intron_variant MELA-AU 18 45787052 45787052 single base substitution C T intron_variant MELA-AU 18 45787139 45787139 single base substitution C T intron_variant MELA-AU 18 45787479 45787479 single base substitution C T intron_variant MELA-AU 18 45787510 45787510 single base substitution C T intron_variant MELA-AU 18 45787596 45787596 single base substitution G A intron_variant MELA-AU 18 45787697 45787697 single base substitution C T intron_variant MELA-AU 18 45787859 45787859 single base substitution C T intron_variant MELA-AU 18 45787939 45787939 single base substitution C T intron_variant MELA-AU 18 45787961 45787961 single base substitution C T intron_variant MELA-AU 18 45788098 45788098 single base substitution G A intron_variant MELA-AU 18 45788175 45788175 single base substitution G A intron_variant MELA-AU 18 45788176 45788176 single base substitution G A intron_variant MELA-AU 18 45788221 45788221 single base substitution C T intron_variant MELA-AU 18 45788293 45788293 single base substitution G A intron_variant MELA-AU 18 45788491 45788491 single base substitution C T intron_variant MELA-AU 18 45788680 45788680 single base substitution G A intron_variant MELA-AU 18 45788761 45788761 single base substitution C T intron_variant MELA-AU 18 45788828 45788828 single base substitution G A intron_variant MELA-AU 18 45789025 45789025 single base substitution T A intron_variant MELA-AU 18 45789332 45789332 single base substitution C T intron_variant MELA-AU 18 45789347 45789347 single base substitution C T intron_variant MELA-AU 18 45789387 45789387 single base substitution C T intron_variant MELA-AU 18 45789420 45789420 single base substitution C T intron_variant MELA-AU 18 45789592 45789592 single base substitution G A intron_variant MELA-AU 18 45789701 45789701 single base substitution C T intron_variant MELA-AU 18 45789922 45789922 single base substitution G A intron_variant MELA-AU 18 45789999 45789999 single base substitution G A intron_variant MELA-AU 18 45790013 45790013 single base substitution G A intron_variant MELA-AU 18 45790034 45790034 single base substitution C T intron_variant MELA-AU 18 45790137 45790137 single base substitution C T intron_variant MELA-AU 18 45790231 45790231 single base substitution A T intron_variant MELA-AU 18 45790529 45790529 single base substitution G A intron_variant MELA-AU 18 45790813 45790813 deletion of <=200bp C - intron_variant MELA-AU 18 45790902 45790902 single base substitution G A intron_variant MELA-AU 18 45790959 45790959 single base substitution G A intron_variant MELA-AU 18 45791274 45791274 single base substitution C T intron_variant MELA-AU 18 45791279 45791279 single base substitution C T intron_variant MELA-AU 18 45791414 45791414 single base substitution C T intron_variant MELA-AU 18 45791666 45791666 single base substitution C T intron_variant MELA-AU 18 45791702 45791702 single base substitution C T intron_variant MELA-AU 18 45791934 45791934 single base substitution G A intron_variant MELA-AU 18 45792449 45792449 single base substitution G A intron_variant MELA-AU 18 45792540 45792540 single base substitution G A intron_variant MELA-AU 18 45792771 45792771 single base substitution G A intron_variant MELA-AU 18 45793018 45793018 single base substitution C T intron_variant MELA-AU 18 45793286 45793286 single base substitution G A intron_variant MELA-AU 18 45793740 45793740 single base substitution G A intron_variant MELA-AU 18 45793894 45793894 single base substitution C T intron_variant MELA-AU 18 45794092 45794092 single base substitution G A intron_variant MELA-AU 18 45794339 45794340 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45794760 45794760 single base substitution G A intron_variant MELA-AU 18 45794810 45794810 single base substitution G A intron_variant MELA-AU 18 45794972 45794972 single base substitution G A intron_variant MELA-AU 18 45795074 45795074 single base substitution A G intron_variant MELA-AU 18 45795196 45795196 single base substitution G A intron_variant MELA-AU 18 45795218 45795218 single base substitution G A intron_variant MELA-AU 18 45795241 45795241 single base substitution G A intron_variant MELA-AU 18 45795470 45795470 single base substitution C T intron_variant MELA-AU 18 45795605 45795605 single base substitution G A intron_variant MELA-AU 18 45795729 45795729 single base substitution C T intron_variant MELA-AU 18 45795923 45795923 single base substitution G A intron_variant MELA-AU 18 45795987 45795987 single base substitution C T intron_variant MELA-AU 18 45796064 45796064 single base substitution G A intron_variant MELA-AU 18 45796189 45796189 single base substitution G A intron_variant MELA-AU 18 45796214 45796214 single base substitution G A intron_variant MELA-AU 18 45796238 45796238 single base substitution T C intron_variant MELA-AU 18 45796396 45796396 single base substitution C T intron_variant MELA-AU 18 45796660 45796660 single base substitution C T intron_variant MELA-AU 18 45796692 45796692 single base substitution G A intron_variant MELA-AU 18 45796826 45796826 single base substitution G A intron_variant MELA-AU 18 45796830 45796830 single base substitution G A intron_variant MELA-AU 18 45796969 45796969 single base substitution G A intron_variant MELA-AU 18 45796975 45796975 single base substitution C T intron_variant MELA-AU 18 45797081 45797081 single base substitution T A intron_variant MELA-AU 18 45797181 45797181 single base substitution G A intron_variant MELA-AU 18 45797194 45797194 single base substitution C T intron_variant MELA-AU 18 45797294 45797294 single base substitution G A intron_variant MELA-AU 18 45797350 45797350 single base substitution C T intron_variant MELA-AU 18 45797650 45797650 single base substitution G A intron_variant MELA-AU 18 45798075 45798075 single base substitution G A intron_variant MELA-AU 18 45798215 45798215 single base substitution A G intron_variant MELA-AU 18 45798532 45798532 single base substitution C T intron_variant MELA-AU 18 45798538 45798538 single base substitution G A intron_variant MELA-AU 18 45798675 45798675 single base substitution G A intron_variant MELA-AU 18 45798753 45798753 single base substitution G A intron_variant MELA-AU 18 45798767 45798767 single base substitution C G intron_variant MELA-AU 18 45798798 45798798 single base substitution C T intron_variant MELA-AU 18 45798986 45798986 single base substitution G A intron_variant MELA-AU 18 45799029 45799029 single base substitution G A intron_variant MELA-AU 18 45799121 45799121 single base substitution C T intron_variant MELA-AU 18 45799197 45799197 single base substitution G A intron_variant MELA-AU 18 45799481 45799481 single base substitution C T intron_variant MELA-AU 18 45799719 45799719 single base substitution G A intron_variant MELA-AU 18 45799789 45799789 single base substitution G A intron_variant MELA-AU 18 45799889 45799889 single base substitution G A intron_variant MELA-AU 18 45799970 45799970 single base substitution G A intron_variant MELA-AU 18 45799983 45799983 single base substitution G A intron_variant MELA-AU 18 45800175 45800175 single base substitution G A intron_variant MELA-AU 18 45800223 45800223 single base substitution G A intron_variant MELA-AU 18 45800400 45800400 single base substitution C T intron_variant MELA-AU 18 45800900 45800900 single base substitution C T intron_variant MELA-AU 18 45801183 45801183 single base substitution G A intron_variant MELA-AU 18 45801302 45801302 single base substitution C T intron_variant MELA-AU 18 45801365 45801365 single base substitution G A intron_variant MELA-AU 18 45801427 45801427 single base substitution G A intron_variant MELA-AU 18 45801739 45801739 single base substitution C G intron_variant MELA-AU 18 45801740 45801740 single base substitution G A intron_variant MELA-AU 18 45801796 45801796 single base substitution G A intron_variant MELA-AU 18 45801882 45801882 single base substitution C T intron_variant MELA-AU 18 45801901 45801901 single base substitution C T intron_variant MELA-AU 18 45802001 45802001 single base substitution A T intron_variant MELA-AU 18 45802092 45802092 single base substitution C T intron_variant MELA-AU 18 45802219 45802219 single base substitution C T intron_variant MELA-AU 18 45802325 45802325 single base substitution G A intron_variant MELA-AU 18 45802343 45802343 single base substitution G A intron_variant MELA-AU 18 45802447 45802447 single base substitution G A intron_variant MELA-AU 18 45803894 45803894 single base substitution C T intron_variant MELA-AU 18 45804058 45804058 single base substitution C T intron_variant MELA-AU 18 45804068 45804068 single base substitution C T intron_variant MELA-AU 18 45804216 45804216 single base substitution T C intron_variant MELA-AU 18 45804262 45804262 single base substitution C T intron_variant MELA-AU 18 45804385 45804385 single base substitution C T intron_variant MELA-AU 18 45804448 45804448 single base substitution C T intron_variant MELA-AU 18 45804552 45804552 single base substitution G A intron_variant MELA-AU 18 45804613 45804613 single base substitution G A intron_variant MELA-AU 18 45804624 45804624 single base substitution C T intron_variant MELA-AU 18 45804893 45804893 single base substitution G A intron_variant MELA-AU 18 45805020 45805020 single base substitution C T intron_variant MELA-AU 18 45805057 45805057 single base substitution C T intron_variant MELA-AU 18 45805104 45805104 single base substitution C T intron_variant MELA-AU 18 45805167 45805167 single base substitution G A intron_variant MELA-AU 18 45805274 45805274 single base substitution G A intron_variant MELA-AU 18 45805460 45805460 single base substitution G A intron_variant MELA-AU 18 45805532 45805532 single base substitution C T intron_variant MELA-AU 18 45805737 45805737 single base substitution G A intron_variant MELA-AU 18 45806027 45806027 single base substitution G A intron_variant MELA-AU 18 45806265 45806265 single base substitution G A intron_variant MELA-AU 18 45806310 45806310 single base substitution G A intron_variant MELA-AU 18 45806464 45806464 single base substitution C T intron_variant MELA-AU 18 45806587 45806587 single base substitution G A intron_variant MELA-AU 18 45806604 45806604 single base substitution G A intron_variant MELA-AU 18 45806670 45806670 single base substitution C T intron_variant MELA-AU 18 45807067 45807067 single base substitution G A intron_variant MELA-AU 18 45807078 45807078 single base substitution C T intron_variant MELA-AU 18 45807158 45807158 single base substitution C T intron_variant MELA-AU 18 45807448 45807448 single base substitution C T intron_variant MELA-AU 18 45807850 45807850 single base substitution G A intron_variant MELA-AU 18 45808875 45808875 single base substitution C T intron_variant MELA-AU 18 45809381 45809381 single base substitution C T intron_variant MELA-AU 18 45809485 45809485 single base substitution G A intron_variant MELA-AU 18 45809487 45809487 single base substitution A T intron_variant MELA-AU 18 45809521 45809521 single base substitution C T intron_variant MELA-AU 18 45809543 45809543 single base substitution C T intron_variant MELA-AU 18 45810126 45810127 deletion of <=200bp CT - intron_variant MELA-AU 18 45810392 45810392 single base substitution C T intron_variant MELA-AU 18 45810531 45810531 single base substitution G A intron_variant MELA-AU 18 45810779 45810779 single base substitution C T intron_variant MELA-AU 18 45810793 45810793 single base substitution G A intron_variant MELA-AU 18 45810899 45810899 single base substitution T C intron_variant MELA-AU 18 45811099 45811099 single base substitution T C intron_variant MELA-AU 18 45811330 45811330 single base substitution G A intron_variant MELA-AU 18 45811520 45811520 single base substitution C T intron_variant MELA-AU 18 45812146 45812146 single base substitution C T intron_variant MELA-AU 18 45812152 45812152 single base substitution T C intron_variant MELA-AU 18 45812262 45812262 single base substitution T G intron_variant MELA-AU 18 45812296 45812296 single base substitution C A intron_variant MELA-AU 18 45812349 45812349 single base substitution C T intron_variant MELA-AU 18 45812392 45812392 single base substitution G A intron_variant MELA-AU 18 45812483 45812483 single base substitution C T intron_variant MELA-AU 18 45812490 45812490 single base substitution C T intron_variant MELA-AU 18 45812546 45812546 single base substitution C T intron_variant MELA-AU 18 45812662 45812662 single base substitution C T intron_variant MELA-AU 18 45812689 45812689 single base substitution G A intron_variant MELA-AU 18 45812997 45812997 single base substitution G A intron_variant MELA-AU 18 45813015 45813015 single base substitution C T intron_variant MELA-AU 18 45813176 45813177 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 18 45813212 45813212 single base substitution C A intron_variant MELA-AU 18 45813331 45813331 single base substitution G A intron_variant MELA-AU 18 45813570 45813570 single base substitution C T intron_variant MELA-AU 18 45813711 45813711 single base substitution G A intron_variant MELA-AU 18 45814087 45814087 single base substitution G A intron_variant MELA-AU 18 45814181 45814181 single base substitution C T intron_variant MELA-AU 18 45814411 45814411 single base substitution G A intron_variant MELA-AU 18 45814416 45814416 single base substitution C T intron_variant MELA-AU 18 45814640 45814640 single base substitution G A intron_variant MELA-AU 18 45814816 45814816 single base substitution C T intron_variant MELA-AU 18 45815654 45815654 single base substitution T C intron_variant MELA-AU 18 45815820 45815820 single base substitution G A intron_variant MELA-AU 18 45815854 45815854 single base substitution G A intron_variant MELA-AU 18 45816072 45816072 single base substitution G A intron_variant MELA-AU 18 45816394 45816394 single base substitution C T intron_variant MELA-AU 18 45816541 45816541 single base substitution G A intron_variant MELA-AU 18 45816960 45816960 single base substitution T C intron_variant MELA-AU 18 45816979 45816979 single base substitution C T intron_variant MELA-AU 18 45817159 45817159 single base substitution G A intron_variant MELA-AU 18 45817166 45817166 single base substitution G A intron_variant MELA-AU 18 45817190 45817190 single base substitution C T intron_variant MELA-AU 18 45817205 45817205 single base substitution C T intron_variant MELA-AU 18 45817266 45817266 single base substitution C T intron_variant MELA-AU 18 45817563 45817563 single base substitution C T intron_variant MELA-AU 18 45817703 45817703 single base substitution G A intron_variant MELA-AU 18 45817721 45817721 single base substitution C T intron_variant MELA-AU 18 45817783 45817783 single base substitution C T intron_variant MELA-AU 18 45817787 45817787 single base substitution C T intron_variant MELA-AU 18 45818007 45818007 single base substitution C T intron_variant MELA-AU 18 45818348 45818348 single base substitution C T intron_variant MELA-AU 18 45818381 45818381 single base substitution C T intron_variant MELA-AU 18 45818830 45818830 single base substitution C T intron_variant MELA-AU 18 45818861 45818862 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45818862 45818862 single base substitution C T intron_variant MELA-AU 18 45818880 45818880 single base substitution C T intron_variant MELA-AU 18 45818936 45818936 single base substitution G A intron_variant MELA-AU 18 45819022 45819022 single base substitution G A intron_variant MELA-AU 18 45819058 45819058 single base substitution C G intron_variant MELA-AU 18 45819167 45819167 single base substitution G A intron_variant MELA-AU 18 45819201 45819201 single base substitution C T intron_variant MELA-AU 18 45819305 45819305 single base substitution G A intron_variant MELA-AU 18 45819426 45819426 single base substitution C T intron_variant MELA-AU 18 45819545 45819545 single base substitution T C intron_variant MELA-AU 18 45819578 45819578 single base substitution C T intron_variant MELA-AU 18 45819921 45819921 single base substitution G A intron_variant MELA-AU 18 45820120 45820120 single base substitution C T intron_variant MELA-AU 18 45820124 45820124 single base substitution C T intron_variant MELA-AU 18 45820214 45820214 single base substitution C T intron_variant MELA-AU 18 45820333 45820333 single base substitution A G intron_variant MELA-AU 18 45820395 45820395 single base substitution G A intron_variant MELA-AU 18 45820506 45820506 single base substitution C T intron_variant MELA-AU 18 45820657 45820657 single base substitution G A intron_variant MELA-AU 18 45820712 45820712 single base substitution C T intron_variant MELA-AU 18 45821282 45821282 single base substitution G A intron_variant MELA-AU 18 45821605 45821605 single base substitution G A intron_variant MELA-AU 18 45821826 45821826 single base substitution G A intron_variant MELA-AU 18 45821857 45821857 single base substitution C T intron_variant MELA-AU 18 45822318 45822318 single base substitution G A intron_variant MELA-AU 18 45822387 45822387 single base substitution G A intron_variant MELA-AU 18 45822443 45822443 single base substitution C T intron_variant MELA-AU 18 45822463 45822463 single base substitution G A intron_variant MELA-AU 18 45822482 45822482 single base substitution G A intron_variant MELA-AU 18 45822568 45822568 single base substitution C T intron_variant MELA-AU 18 45822601 45822601 single base substitution C T intron_variant MELA-AU 18 45822638 45822638 single base substitution C T intron_variant MELA-AU 18 45822650 45822651 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45822847 45822847 single base substitution C T intron_variant MELA-AU 18 45822928 45822928 single base substitution G A intron_variant MELA-AU 18 45822993 45822993 single base substitution C G intron_variant MELA-AU 18 45823468 45823468 single base substitution G A intron_variant MELA-AU 18 45824011 45824011 single base substitution G A intron_variant MELA-AU 18 45824294 45824294 single base substitution G T intron_variant MELA-AU 18 45824699 45824699 single base substitution C T intron_variant MELA-AU 18 45824727 45824727 single base substitution C T intron_variant MELA-AU 18 45824921 45824921 single base substitution C T intron_variant MELA-AU 18 45825137 45825137 single base substitution C T intron_variant MELA-AU 18 45825471 45825471 single base substitution G A intron_variant MELA-AU 18 45825523 45825523 single base substitution G A intron_variant MELA-AU 18 45825551 45825551 single base substitution G A intron_variant MELA-AU 18 45825692 45825692 single base substitution C T intron_variant MELA-AU 18 45825693 45825693 single base substitution C T intron_variant MELA-AU 18 45825788 45825788 single base substitution G A intron_variant MELA-AU 18 45826139 45826139 single base substitution G A intron_variant MELA-AU 18 45826147 45826147 single base substitution G A intron_variant MELA-AU 18 45826398 45826398 single base substitution G A intron_variant MELA-AU 18 45826415 45826415 single base substitution C T intron_variant MELA-AU 18 45826451 45826451 single base substitution A G intron_variant MELA-AU 18 45826526 45826526 single base substitution G A intron_variant MELA-AU 18 45826608 45826608 single base substitution C T intron_variant MELA-AU 18 45826687 45826687 single base substitution C T intron_variant MELA-AU 18 45826853 45826853 single base substitution G A intron_variant MELA-AU 18 45826882 45826882 single base substitution G A intron_variant MELA-AU 18 45826887 45826887 single base substitution C T intron_variant MELA-AU 18 45826938 45826938 single base substitution G A intron_variant MELA-AU 18 45827065 45827065 single base substitution C T intron_variant MELA-AU 18 45827391 45827391 single base substitution G A intron_variant MELA-AU 18 45828009 45828009 single base substitution G A intron_variant MELA-AU 18 45828485 45828485 single base substitution T C intron_variant MELA-AU 18 45828486 45828486 single base substitution C T intron_variant MELA-AU 18 45828565 45828565 single base substitution T C intron_variant MELA-AU 18 45829035 45829035 single base substitution G A intron_variant MELA-AU 18 45829147 45829147 single base substitution A G intron_variant MELA-AU 18 45829195 45829195 single base substitution C T intron_variant MELA-AU 18 45829414 45829414 single base substitution C T intron_variant MELA-AU 18 45829695 45829695 single base substitution C T intron_variant MELA-AU 18 45829714 45829714 single base substitution G A intron_variant MELA-AU 18 45829837 45829837 single base substitution T G intron_variant MELA-AU 18 45829979 45829979 single base substitution G A intron_variant MELA-AU 18 45830128 45830128 single base substitution C T intron_variant MELA-AU 18 45830319 45830319 single base substitution C T intron_variant MELA-AU 18 45830414 45830414 single base substitution G A intron_variant MELA-AU 18 45830454 45830454 single base substitution G A intron_variant MELA-AU 18 45830843 45830843 single base substitution C T intron_variant MELA-AU 18 45830992 45830992 single base substitution G A intron_variant MELA-AU 18 45831184 45831184 single base substitution C T intron_variant MELA-AU 18 45831240 45831240 single base substitution C T intron_variant MELA-AU 18 45831409 45831409 single base substitution C T intron_variant MELA-AU 18 45831528 45831528 single base substitution T C intron_variant MELA-AU 18 45831705 45831705 single base substitution G A intron_variant MELA-AU 18 45832163 45832163 single base substitution G A intron_variant MELA-AU 18 45832186 45832186 single base substitution G A intron_variant MELA-AU 18 45832407 45832407 single base substitution G A intron_variant MELA-AU 18 45832696 45832696 single base substitution G A intron_variant MELA-AU 18 45832708 45832708 single base substitution C G intron_variant MELA-AU 18 45833132 45833132 single base substitution G A intron_variant MELA-AU 18 45833228 45833228 single base substitution G A intron_variant MELA-AU 18 45833338 45833338 single base substitution G A intron_variant MELA-AU 18 45833466 45833466 single base substitution C T intron_variant MELA-AU 18 45833592 45833592 single base substitution G A intron_variant MELA-AU 18 45833604 45833604 single base substitution C T intron_variant MELA-AU 18 45833745 45833745 single base substitution G A intron_variant MELA-AU 18 45833777 45833777 single base substitution G A intron_variant MELA-AU 18 45833988 45833988 single base substitution A T intron_variant MELA-AU 18 45834017 45834017 single base substitution G A intron_variant MELA-AU 18 45834030 45834030 single base substitution C T intron_variant MELA-AU 18 45834352 45834352 single base substitution G A intron_variant MELA-AU 18 45834450 45834450 single base substitution A T intron_variant MELA-AU 18 45834710 45834710 single base substitution G A intron_variant MELA-AU 18 45834769 45834769 single base substitution C T intron_variant MELA-AU 18 45834788 45834788 single base substitution C T intron_variant MELA-AU 18 45834791 45834791 single base substitution C T intron_variant MELA-AU 18 45835260 45835260 single base substitution C T intron_variant MELA-AU 18 45835693 45835693 single base substitution C A intron_variant MELA-AU 18 45836167 45836167 single base substitution C T intron_variant MELA-AU 18 45836361 45836361 single base substitution G A intron_variant MELA-AU 18 45836509 45836509 single base substitution G A intron_variant MELA-AU 18 45836522 45836522 single base substitution A G intron_variant MELA-AU 18 45836630 45836630 single base substitution C T intron_variant MELA-AU 18 45837035 45837035 single base substitution G A intron_variant MELA-AU 18 45837120 45837120 single base substitution T C intron_variant MELA-AU 18 45837245 45837245 single base substitution G A intron_variant MELA-AU 18 45837247 45837247 single base substitution G C intron_variant MELA-AU 18 45837602 45837602 single base substitution C T intron_variant MELA-AU 18 45838433 45838433 single base substitution G A intron_variant MELA-AU 18 45838878 45838878 single base substitution C T intron_variant MELA-AU 18 45838982 45838982 single base substitution T C intron_variant MELA-AU 18 45839334 45839334 single base substitution A C intron_variant MELA-AU 18 45839941 45839941 single base substitution C T intron_variant MELA-AU 18 45840009 45840009 single base substitution G A intron_variant MELA-AU 18 45840059 45840059 single base substitution G A intron_variant MELA-AU 18 45840152 45840152 single base substitution G A intron_variant MELA-AU 18 45840190 45840190 single base substitution G A intron_variant MELA-AU 18 45840663 45840663 single base substitution C T intron_variant MELA-AU 18 45840677 45840677 single base substitution C G intron_variant MELA-AU 18 45840677 45840677 single base substitution C T intron_variant MELA-AU 18 45840906 45840906 single base substitution G A intron_variant MELA-AU 18 45841074 45841074 single base substitution C T intron_variant MELA-AU 18 45841185 45841185 single base substitution A T intron_variant MELA-AU 18 45841198 45841198 single base substitution G A intron_variant MELA-AU 18 45841284 45841284 single base substitution C T intron_variant MELA-AU 18 45841307 45841307 single base substitution C T intron_variant MELA-AU 18 45841504 45841504 single base substitution G A intron_variant MELA-AU 18 45841510 45841510 single base substitution G A intron_variant MELA-AU 18 45841863 45841863 single base substitution G A intron_variant MELA-AU 18 45841954 45841954 single base substitution C T intron_variant MELA-AU 18 45841996 45841996 single base substitution C A intron_variant MELA-AU 18 45842109 45842109 single base substitution C T intron_variant MELA-AU 18 45842226 45842226 single base substitution G A intron_variant MELA-AU 18 45842244 45842244 single base substitution G A intron_variant MELA-AU 18 45842269 45842269 single base substitution G A intron_variant MELA-AU 18 45842518 45842518 single base substitution C T intron_variant MELA-AU 18 45842678 45842678 single base substitution G A intron_variant MELA-AU 18 45842719 45842719 single base substitution C T intron_variant MELA-AU 18 45842855 45842855 single base substitution C T intron_variant MELA-AU 18 45842872 45842872 single base substitution T C intron_variant MELA-AU 18 45842892 45842892 single base substitution C T intron_variant MELA-AU 18 45843238 45843238 single base substitution C T intron_variant MELA-AU 18 45843274 45843274 single base substitution G A intron_variant MELA-AU 18 45843381 45843381 single base substitution C T intron_variant MELA-AU 18 45843469 45843469 single base substitution C T intron_variant MELA-AU 18 45843596 45843596 single base substitution C T intron_variant MELA-AU 18 45843895 45843895 single base substitution C T intron_variant MELA-AU 18 45843983 45843983 single base substitution G A intron_variant MELA-AU 18 45844626 45844626 single base substitution C T intron_variant MELA-AU 18 45844688 45844688 single base substitution C T intron_variant MELA-AU 18 45844714 45844714 single base substitution C G intron_variant MELA-AU 18 45844937 45844937 single base substitution C T intron_variant MELA-AU 18 45845741 45845741 single base substitution C T intron_variant MELA-AU 18 45846368 45846368 single base substitution C T intron_variant MELA-AU 18 45846458 45846458 single base substitution A G intron_variant MELA-AU 18 45846584 45846584 single base substitution C T intron_variant MELA-AU 18 45846944 45846944 single base substitution G A intron_variant MELA-AU 18 45847150 45847150 single base substitution C T intron_variant MELA-AU 18 45847259 45847259 single base substitution C T intron_variant MELA-AU 18 45847403 45847403 single base substitution C T intron_variant MELA-AU 18 45847433 45847433 single base substitution A G intron_variant MELA-AU 18 45848014 45848015 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45848041 45848041 single base substitution G A intron_variant MELA-AU 18 45848076 45848076 single base substitution C T intron_variant MELA-AU 18 45848153 45848153 single base substitution G A intron_variant MELA-AU 18 45848458 45848458 single base substitution G A intron_variant MELA-AU 18 45848470 45848470 single base substitution C T intron_variant MELA-AU 18 45848541 45848542 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 18 45848567 45848567 single base substitution C T intron_variant MELA-AU 18 45848629 45848629 single base substitution G A intron_variant MELA-AU 18 45849057 45849057 single base substitution C T intron_variant MELA-AU 18 45849280 45849280 single base substitution G A intron_variant MELA-AU 18 45849500 45849500 single base substitution C T intron_variant MELA-AU 18 45849764 45849764 single base substitution A C intron_variant MELA-AU 18 45850458 45850458 single base substitution C T intron_variant MELA-AU 18 45850591 45850591 single base substitution C T intron_variant MELA-AU 18 45850595 45850595 single base substitution G A intron_variant MELA-AU 18 45850610 45850610 single base substitution G A intron_variant MELA-AU 18 45850704 45850704 single base substitution A C intron_variant MELA-AU 18 45850706 45850706 single base substitution C T intron_variant MELA-AU 18 45850778 45850778 single base substitution C T intron_variant MELA-AU 18 45850835 45850835 single base substitution G A intron_variant MELA-AU 18 45850931 45850931 single base substitution G A intron_variant MELA-AU 18 45851130 45851130 single base substitution C T intron_variant MELA-AU 18 45851196 45851197 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45851208 45851208 single base substitution G A intron_variant MELA-AU 18 45851738 45851738 single base substitution G A intron_variant MELA-AU 18 45852052 45852052 single base substitution C T intron_variant MELA-AU 18 45852063 45852063 single base substitution G A intron_variant MELA-AU 18 45852164 45852164 single base substitution G A intron_variant MELA-AU 18 45852288 45852288 single base substitution C T intron_variant MELA-AU 18 45852390 45852390 single base substitution G A intron_variant MELA-AU 18 45853102 45853103 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45853246 45853246 single base substitution C T intron_variant MELA-AU 18 45853981 45853981 single base substitution C T intron_variant MELA-AU 18 45854058 45854058 single base substitution G A intron_variant MELA-AU 18 45854113 45854113 single base substitution C T intron_variant MELA-AU 18 45854355 45854355 single base substitution G A intron_variant MELA-AU 18 45854376 45854376 single base substitution G A intron_variant MELA-AU 18 45854436 45854436 single base substitution C T intron_variant MELA-AU 18 45854476 45854476 single base substitution C T intron_variant MELA-AU 18 45854502 45854502 single base substitution G A intron_variant MELA-AU 18 45854708 45854708 single base substitution T C intron_variant MELA-AU 18 45854772 45854772 single base substitution C T intron_variant MELA-AU 18 45854812 45854812 single base substitution A C intron_variant MELA-AU 18 45854938 45854938 single base substitution A C intron_variant MELA-AU 18 45855010 45855010 single base substitution T C intron_variant MELA-AU 18 45855086 45855086 single base substitution C T intron_variant MELA-AU 18 45855124 45855125 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45855153 45855153 single base substitution G A intron_variant MELA-AU 18 45855495 45855495 single base substitution C T intron_variant MELA-AU 18 45855683 45855683 single base substitution C T intron_variant MELA-AU 18 45855831 45855832 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45856284 45856284 single base substitution G A intron_variant MELA-AU 18 45856779 45856779 single base substitution C T intron_variant MELA-AU 18 45856818 45856818 single base substitution C T intron_variant MELA-AU 18 45857188 45857188 single base substitution C T intron_variant MELA-AU 18 45857213 45857213 single base substitution G A intron_variant MELA-AU 18 45857216 45857217 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45857354 45857354 single base substitution G A intron_variant MELA-AU 18 45857485 45857485 single base substitution C T intron_variant MELA-AU 18 45857887 45857887 single base substitution C T intron_variant MELA-AU 18 45857917 45857917 single base substitution G A intron_variant MELA-AU 18 45858147 45858147 single base substitution G A intron_variant MELA-AU 18 45858225 45858225 single base substitution C T intron_variant MELA-AU 18 45858424 45858424 single base substitution C T intron_variant MELA-AU 18 45859000 45859000 single base substitution C T intron_variant MELA-AU 18 45859118 45859118 single base substitution C T intron_variant MELA-AU 18 45859599 45859599 single base substitution C T intron_variant MELA-AU 18 45859641 45859641 single base substitution T G intron_variant MELA-AU 18 45859691 45859691 single base substitution G A intron_variant MELA-AU 18 45859829 45859829 single base substitution G A intron_variant MELA-AU 18 45860097 45860097 single base substitution G A intron_variant MELA-AU 18 45860161 45860161 single base substitution G A intron_variant MELA-AU 18 45860340 45860340 single base substitution C T intron_variant MELA-AU 18 45860366 45860366 single base substitution C T intron_variant MELA-AU 18 45860393 45860393 single base substitution G T intron_variant MELA-AU 18 45860597 45860597 single base substitution G A intron_variant MELA-AU 18 45860616 45860616 single base substitution A T intron_variant MELA-AU 18 45860708 45860708 single base substitution G A intron_variant MELA-AU 18 45860754 45860754 single base substitution C T intron_variant MELA-AU 18 45860861 45860861 single base substitution G A intron_variant MELA-AU 18 45861078 45861078 single base substitution G A intron_variant MELA-AU 18 45861239 45861239 single base substitution G A intron_variant MELA-AU 18 45861693 45861693 single base substitution C T intron_variant MELA-AU 18 45861991 45861991 single base substitution C T intron_variant MELA-AU 18 45862242 45862242 single base substitution C T intron_variant MELA-AU 18 45862388 45862388 single base substitution C T intron_variant MELA-AU 18 45862846 45862846 single base substitution C T intron_variant MELA-AU 18 45862910 45862910 single base substitution G A intron_variant MELA-AU 18 45863026 45863026 single base substitution C T intron_variant MELA-AU 18 45863151 45863151 single base substitution G A intron_variant MELA-AU 18 45863180 45863180 single base substitution T A intron_variant MELA-AU 18 45863619 45863619 single base substitution C T intron_variant MELA-AU 18 45863687 45863687 single base substitution C T intron_variant MELA-AU 18 45863687 45863688 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45863817 45863817 single base substitution T G intron_variant MELA-AU 18 45863873 45863873 single base substitution C T intron_variant MELA-AU 18 45863929 45863929 single base substitution C T intron_variant MELA-AU 18 45864119 45864119 single base substitution C T intron_variant MELA-AU 18 45864186 45864186 single base substitution C A intron_variant MELA-AU 18 45864318 45864318 single base substitution G A intron_variant MELA-AU 18 45864520 45864520 single base substitution G A intron_variant MELA-AU 18 45864668 45864668 single base substitution C T 5_prime_UTR_variant MELA-AU 18 45864668 45864668 single base substitution C T intron_variant MELA-AU 18 45864681 45864681 single base substitution G A 5_prime_UTR_variant MELA-AU 18 45864681 45864681 single base substitution G A intron_variant MELA-AU 18 45864710 45864710 single base substitution G A 5_prime_UTR_variant MELA-AU 18 45864710 45864710 single base substitution G A intron_variant MELA-AU 18 45864867 45864867 single base substitution C T intron_variant MELA-AU 18 45864867 45864867 single base substitution C T upstream_gene_variant MELA-AU 18 45865346 45865346 single base substitution C T intron_variant MELA-AU 18 45865346 45865346 single base substitution C T upstream_gene_variant MELA-AU 18 45865362 45865362 single base substitution G A intron_variant MELA-AU 18 45865362 45865362 single base substitution G A upstream_gene_variant MELA-AU 18 45865444 45865444 single base substitution G A intron_variant MELA-AU 18 45865444 45865444 single base substitution G A upstream_gene_variant MELA-AU 18 45865451 45865451 single base substitution C T intron_variant MELA-AU 18 45865451 45865451 single base substitution C T upstream_gene_variant MELA-AU 18 45865579 45865579 single base substitution C T intron_variant MELA-AU 18 45865579 45865579 single base substitution C T upstream_gene_variant MELA-AU 18 45865617 45865617 single base substitution C T intron_variant MELA-AU 18 45865617 45865617 single base substitution C T upstream_gene_variant MELA-AU 18 45865704 45865704 single base substitution G A intron_variant MELA-AU 18 45865704 45865704 single base substitution G A upstream_gene_variant MELA-AU 18 45865831 45865831 single base substitution C T intron_variant MELA-AU 18 45865831 45865831 single base substitution C T upstream_gene_variant MELA-AU 18 45865888 45865888 single base substitution G A intron_variant MELA-AU 18 45865888 45865888 single base substitution G A upstream_gene_variant MELA-AU 18 45866027 45866027 single base substitution G A intron_variant MELA-AU 18 45866027 45866027 single base substitution G A upstream_gene_variant MELA-AU 18 45866093 45866093 single base substitution G A intron_variant MELA-AU 18 45866093 45866093 single base substitution G A upstream_gene_variant MELA-AU 18 45866128 45866128 single base substitution C T intron_variant MELA-AU 18 45866128 45866128 single base substitution C T upstream_gene_variant MELA-AU 18 45866791 45866791 single base substitution A G intron_variant MELA-AU 18 45866791 45866791 single base substitution A G upstream_gene_variant MELA-AU 18 45866924 45866924 single base substitution T G intron_variant MELA-AU 18 45866924 45866924 single base substitution T G upstream_gene_variant MELA-AU 18 45866930 45866930 single base substitution G A intron_variant MELA-AU 18 45866930 45866930 single base substitution G A upstream_gene_variant MELA-AU 18 45867459 45867459 single base substitution G A intron_variant MELA-AU 18 45867459 45867459 single base substitution G A upstream_gene_variant MELA-AU 18 45867564 45867564 single base substitution G A intron_variant MELA-AU 18 45867564 45867564 single base substitution G A upstream_gene_variant MELA-AU 18 45867610 45867610 single base substitution G A intron_variant MELA-AU 18 45867610 45867610 single base substitution G A upstream_gene_variant MELA-AU 18 45867620 45867620 single base substitution C T intron_variant MELA-AU 18 45867620 45867620 single base substitution C T upstream_gene_variant MELA-AU 18 45867905 45867905 single base substitution C T intron_variant MELA-AU 18 45867905 45867905 single base substitution C T upstream_gene_variant MELA-AU 18 45868148 45868148 single base substitution G A intron_variant MELA-AU 18 45868148 45868148 single base substitution G A upstream_gene_variant MELA-AU 18 45868185 45868185 single base substitution G A intron_variant MELA-AU 18 45868185 45868185 single base substitution G A upstream_gene_variant MELA-AU 18 45868284 45868284 single base substitution G A intron_variant MELA-AU 18 45868284 45868284 single base substitution G A upstream_gene_variant MELA-AU 18 45868309 45868309 single base substitution G A intron_variant MELA-AU 18 45868309 45868309 single base substitution G A upstream_gene_variant MELA-AU 18 45868357 45868357 single base substitution G A intron_variant MELA-AU 18 45868357 45868357 single base substitution G A upstream_gene_variant MELA-AU 18 45868379 45868379 single base substitution C T intron_variant MELA-AU 18 45868379 45868379 single base substitution C T upstream_gene_variant MELA-AU 18 45868411 45868411 single base substitution G A intron_variant MELA-AU 18 45868411 45868411 single base substitution G A upstream_gene_variant MELA-AU 18 45868464 45868464 single base substitution C T intron_variant MELA-AU 18 45868464 45868464 single base substitution C T upstream_gene_variant MELA-AU 18 45868478 45868479 multiple base substitution (>=2bp and <=200bp) TG GT intron_variant MELA-AU 18 45868478 45868479 multiple base substitution (>=2bp and <=200bp) TG GT upstream_gene_variant MELA-AU 18 45868539 45868539 single base substitution G A intron_variant MELA-AU 18 45868539 45868539 single base substitution G A upstream_gene_variant MELA-AU 18 45868751 45868752 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45868751 45868752 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 45868876 45868876 single base substitution G A intron_variant MELA-AU 18 45868876 45868876 single base substitution G A upstream_gene_variant MELA-AU 18 45868905 45868905 single base substitution G A intron_variant MELA-AU 18 45868905 45868905 single base substitution G A upstream_gene_variant MELA-AU 18 45869126 45869126 single base substitution G A intron_variant MELA-AU 18 45869126 45869126 single base substitution G A upstream_gene_variant MELA-AU 18 45869171 45869171 single base substitution G A intron_variant MELA-AU 18 45869171 45869171 single base substitution G A upstream_gene_variant MELA-AU 18 45869792 45869792 single base substitution G A intron_variant MELA-AU 18 45869922 45869922 single base substitution G A intron_variant MELA-AU 18 45869941 45869941 single base substitution C T intron_variant MELA-AU 18 45869971 45869971 single base substitution A G intron_variant MELA-AU 18 45870172 45870172 single base substitution C T intron_variant MELA-AU 18 45870173 45870173 single base substitution C T intron_variant MELA-AU 18 45870253 45870253 single base substitution T G intron_variant MELA-AU 18 45870255 45870255 single base substitution C T intron_variant MELA-AU 18 45870258 45870258 single base substitution C T intron_variant MELA-AU 18 45870334 45870334 single base substitution G A intron_variant MELA-AU 18 45870419 45870419 single base substitution G A intron_variant MELA-AU 18 45870436 45870436 single base substitution A G intron_variant MELA-AU 18 45870475 45870475 single base substitution C T intron_variant MELA-AU 18 45870525 45870525 single base substitution T A intron_variant MELA-AU 18 45870575 45870575 single base substitution G A intron_variant MELA-AU 18 45870625 45870625 single base substitution G A intron_variant MELA-AU 18 45870657 45870657 single base substitution G A intron_variant MELA-AU 18 45870754 45870754 single base substitution G A intron_variant MELA-AU 18 45870887 45870887 single base substitution G A intron_variant MELA-AU 18 45870898 45870898 single base substitution G A intron_variant MELA-AU 18 45870899 45870899 single base substitution G A intron_variant MELA-AU 18 45871250 45871250 single base substitution C T intron_variant MELA-AU 18 45871344 45871344 single base substitution C T intron_variant MELA-AU 18 45871632 45871632 single base substitution G A intron_variant MELA-AU 18 45871654 45871654 single base substitution G A intron_variant MELA-AU 18 45872318 45872318 single base substitution C T intron_variant MELA-AU 18 45872331 45872331 single base substitution G A intron_variant MELA-AU 18 45872380 45872380 single base substitution G A intron_variant MELA-AU 18 45872776 45872776 single base substitution C T intron_variant MELA-AU 18 45872805 45872805 single base substitution G A intron_variant MELA-AU 18 45872816 45872816 single base substitution C T intron_variant MELA-AU 18 45873106 45873106 single base substitution C T intron_variant MELA-AU 18 45873481 45873481 single base substitution C T intron_variant MELA-AU 18 45873554 45873554 single base substitution G A intron_variant MELA-AU 18 45873645 45873645 single base substitution C T intron_variant MELA-AU 18 45873772 45873772 single base substitution C T intron_variant MELA-AU 18 45873802 45873802 single base substitution C T intron_variant MELA-AU 18 45874205 45874205 single base substitution G A intron_variant MELA-AU 18 45874257 45874257 single base substitution G A intron_variant MELA-AU 18 45874448 45874448 single base substitution G T intron_variant MELA-AU 18 45874474 45874474 single base substitution C T intron_variant MELA-AU 18 45874782 45874782 single base substitution G A intron_variant MELA-AU 18 45875360 45875360 single base substitution G A intron_variant MELA-AU 18 45875501 45875501 single base substitution G A intron_variant MELA-AU 18 45875566 45875566 single base substitution C T intron_variant MELA-AU 18 45875572 45875572 single base substitution G A intron_variant MELA-AU 18 45875646 45875646 single base substitution G A intron_variant MELA-AU 18 45875806 45875806 single base substitution C T intron_variant MELA-AU 18 45876012 45876012 single base substitution C T intron_variant MELA-AU 18 45876099 45876099 single base substitution C T intron_variant MELA-AU 18 45876135 45876135 single base substitution C T intron_variant MELA-AU 18 45876182 45876182 single base substitution C T intron_variant MELA-AU 18 45876230 45876230 single base substitution C T intron_variant MELA-AU 18 45876238 45876238 single base substitution G A intron_variant MELA-AU 18 45876296 45876296 single base substitution T C intron_variant MELA-AU 18 45876469 45876469 single base substitution G A intron_variant MELA-AU 18 45876664 45876664 single base substitution C T intron_variant MELA-AU 18 45876846 45876846 single base substitution C T intron_variant MELA-AU 18 45876926 45876926 single base substitution G A 5_prime_UTR_variant MELA-AU 18 45876926 45876926 single base substitution G A intron_variant MELA-AU 18 45877073 45877073 single base substitution C T intron_variant MELA-AU 18 45877201 45877201 single base substitution C T intron_variant MELA-AU 18 45877222 45877222 single base substitution C T intron_variant MELA-AU 18 45877954 45877954 single base substitution C T intron_variant MELA-AU 18 45877978 45877978 single base substitution C T intron_variant MELA-AU 18 45877991 45877991 single base substitution C T intron_variant MELA-AU 18 45878073 45878073 single base substitution C T intron_variant MELA-AU 18 45878220 45878220 single base substitution G A intron_variant MELA-AU 18 45878236 45878236 single base substitution G A intron_variant MELA-AU 18 45878260 45878260 single base substitution G A intron_variant MELA-AU 18 45878364 45878364 single base substitution C T intron_variant MELA-AU 18 45878482 45878482 single base substitution C T intron_variant MELA-AU 18 45878641 45878641 single base substitution G A intron_variant MELA-AU 18 45878705 45878705 single base substitution G T intron_variant MELA-AU 18 45878757 45878757 single base substitution C T intron_variant MELA-AU 18 45878766 45878766 single base substitution C T intron_variant MELA-AU 18 45879203 45879203 single base substitution C T intron_variant MELA-AU 18 45879253 45879253 single base substitution C T intron_variant MELA-AU 18 45879571 45879571 single base substitution A C intron_variant MELA-AU 18 45879848 45879848 single base substitution G A intron_variant MELA-AU 18 45879870 45879870 single base substitution T G intron_variant MELA-AU 18 45879961 45879961 single base substitution C T intron_variant MELA-AU 18 45879988 45879988 single base substitution T C intron_variant MELA-AU 18 45880177 45880177 single base substitution G A intron_variant MELA-AU 18 45880347 45880347 single base substitution G C intron_variant MELA-AU 18 45880444 45880444 single base substitution G A intron_variant MELA-AU 18 45880610 45880611 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45880794 45880794 single base substitution G A intron_variant MELA-AU 18 45880915 45880915 single base substitution C T intron_variant MELA-AU 18 45881183 45881183 single base substitution G A intron_variant MELA-AU 18 45881349 45881349 single base substitution C T intron_variant MELA-AU 18 45881549 45881549 single base substitution G A intron_variant MELA-AU 18 45881816 45881816 single base substitution C T intron_variant MELA-AU 18 45882086 45882086 single base substitution C T intron_variant MELA-AU 18 45882191 45882191 single base substitution C T intron_variant MELA-AU 18 45882432 45882432 single base substitution C T intron_variant MELA-AU 18 45882503 45882503 single base substitution G A intron_variant MELA-AU 18 45882543 45882543 single base substitution C T intron_variant MELA-AU 18 45882569 45882569 single base substitution C T intron_variant MELA-AU 18 45882924 45882924 single base substitution C T intron_variant MELA-AU 18 45883022 45883022 single base substitution C T intron_variant MELA-AU 18 45883100 45883100 single base substitution C T intron_variant MELA-AU 18 45883163 45883163 single base substitution G A intron_variant MELA-AU 18 45883207 45883207 single base substitution C T intron_variant MELA-AU 18 45883669 45883669 single base substitution G A intron_variant MELA-AU 18 45883787 45883787 single base substitution A C intron_variant MELA-AU 18 45883820 45883820 single base substitution G A intron_variant MELA-AU 18 45883905 45883905 single base substitution C T intron_variant MELA-AU 18 45884002 45884002 single base substitution G A intron_variant MELA-AU 18 45884040 45884040 single base substitution C T intron_variant MELA-AU 18 45884049 45884049 single base substitution G A intron_variant MELA-AU 18 45884063 45884063 single base substitution C T intron_variant MELA-AU 18 45884148 45884148 single base substitution G A intron_variant MELA-AU 18 45884294 45884294 single base substitution C T intron_variant MELA-AU 18 45884404 45884404 single base substitution C T intron_variant MELA-AU 18 45884469 45884469 single base substitution C T intron_variant MELA-AU 18 45884750 45884751 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45884962 45884962 single base substitution G A intron_variant MELA-AU 18 45885378 45885378 single base substitution C T intron_variant MELA-AU 18 45885706 45885706 single base substitution G A intron_variant MELA-AU 18 45885954 45885954 single base substitution G A intron_variant MELA-AU 18 45886109 45886109 single base substitution G A intron_variant MELA-AU 18 45886248 45886248 single base substitution G A intron_variant MELA-AU 18 45886335 45886335 single base substitution C T intron_variant MELA-AU 18 45886499 45886499 single base substitution C T intron_variant MELA-AU 18 45886501 45886501 single base substitution C T intron_variant MELA-AU 18 45886675 45886675 single base substitution T C intron_variant MELA-AU 18 45886778 45886778 single base substitution G A intron_variant MELA-AU 18 45886863 45886863 single base substitution G A intron_variant MELA-AU 18 45886933 45886933 single base substitution G A intron_variant MELA-AU 18 45886949 45886950 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45886950 45886950 single base substitution G A intron_variant MELA-AU 18 45887035 45887035 single base substitution G A intron_variant MELA-AU 18 45887211 45887211 single base substitution C T intron_variant MELA-AU 18 45887235 45887235 single base substitution G A intron_variant MELA-AU 18 45887337 45887337 single base substitution C T intron_variant MELA-AU 18 45887538 45887538 single base substitution C T intron_variant MELA-AU 18 45887580 45887580 single base substitution G A intron_variant MELA-AU 18 45887712 45887712 single base substitution G A intron_variant MELA-AU 18 45887923 45887923 single base substitution A T intron_variant MELA-AU 18 45887991 45887991 single base substitution C T intron_variant MELA-AU 18 45888137 45888137 single base substitution G A intron_variant MELA-AU 18 45888179 45888179 single base substitution G A intron_variant MELA-AU 18 45888217 45888217 single base substitution G A intron_variant MELA-AU 18 45888261 45888261 single base substitution G A intron_variant MELA-AU 18 45888268 45888268 single base substitution A T intron_variant MELA-AU 18 45888306 45888306 single base substitution G A intron_variant MELA-AU 18 45888354 45888354 single base substitution T C intron_variant MELA-AU 18 45888400 45888400 single base substitution C T intron_variant MELA-AU 18 45888515 45888515 single base substitution G A intron_variant MELA-AU 18 45888542 45888543 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45888662 45888662 single base substitution C T intron_variant MELA-AU 18 45888700 45888700 single base substitution C T intron_variant MELA-AU 18 45888720 45888720 single base substitution C T intron_variant MELA-AU 18 45888821 45888821 single base substitution G A intron_variant MELA-AU 18 45889072 45889072 single base substitution C T intron_variant MELA-AU 18 45889145 45889145 single base substitution G A intron_variant MELA-AU 18 45889315 45889315 single base substitution G A intron_variant MELA-AU 18 45889341 45889341 single base substitution G A intron_variant MELA-AU 18 45889433 45889433 single base substitution G A intron_variant MELA-AU 18 45889473 45889473 single base substitution G A intron_variant MELA-AU 18 45889586 45889586 single base substitution G A intron_variant MELA-AU 18 45889786 45889786 single base substitution C T intron_variant MELA-AU 18 45889829 45889829 single base substitution C T intron_variant MELA-AU 18 45889836 45889836 single base substitution G A intron_variant MELA-AU 18 45889857 45889857 single base substitution C T intron_variant MELA-AU 18 45889982 45889982 single base substitution G A intron_variant MELA-AU 18 45889993 45889993 single base substitution G A intron_variant MELA-AU 18 45890060 45890060 single base substitution G T intron_variant MELA-AU 18 45890071 45890071 single base substitution G A intron_variant MELA-AU 18 45890126 45890126 single base substitution C T intron_variant MELA-AU 18 45890304 45890304 single base substitution G A intron_variant MELA-AU 18 45890401 45890401 single base substitution C T intron_variant MELA-AU 18 45890439 45890439 single base substitution C T intron_variant MELA-AU 18 45890615 45890615 single base substitution C T intron_variant MELA-AU 18 45890706 45890706 single base substitution G A intron_variant MELA-AU 18 45890742 45890742 single base substitution G A intron_variant MELA-AU 18 45890748 45890748 single base substitution G A intron_variant MELA-AU 18 45890832 45890832 single base substitution C T intron_variant MELA-AU 18 45890945 45890945 single base substitution G A intron_variant MELA-AU 18 45891094 45891094 single base substitution C T intron_variant MELA-AU 18 45891513 45891513 single base substitution T G intron_variant MELA-AU 18 45891527 45891527 single base substitution C T intron_variant MELA-AU 18 45891583 45891583 single base substitution G A intron_variant MELA-AU 18 45891600 45891600 single base substitution C T intron_variant MELA-AU 18 45891942 45891942 single base substitution A T intron_variant MELA-AU 18 45892020 45892020 single base substitution A G intron_variant MELA-AU 18 45892032 45892032 single base substitution G A intron_variant MELA-AU 18 45892135 45892135 single base substitution C T intron_variant MELA-AU 18 45892240 45892240 single base substitution G A intron_variant MELA-AU 18 45892787 45892787 single base substitution C T intron_variant MELA-AU 18 45892924 45892924 single base substitution C T intron_variant MELA-AU 18 45892925 45892925 single base substitution C T intron_variant MELA-AU 18 45893035 45893035 single base substitution G A intron_variant MELA-AU 18 45893074 45893074 single base substitution T C intron_variant MELA-AU 18 45893104 45893104 single base substitution A G intron_variant MELA-AU 18 45893112 45893112 single base substitution C T intron_variant MELA-AU 18 45893120 45893120 single base substitution C T intron_variant MELA-AU 18 45893433 45893433 single base substitution A G intron_variant MELA-AU 18 45894025 45894025 single base substitution G A intron_variant MELA-AU 18 45894334 45894335 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45894442 45894442 single base substitution G A intron_variant MELA-AU 18 45894467 45894467 single base substitution G A intron_variant MELA-AU 18 45894640 45894640 single base substitution A T intron_variant MELA-AU 18 45894913 45894913 single base substitution G A intron_variant MELA-AU 18 45894955 45894955 single base substitution G A intron_variant MELA-AU 18 45894991 45894991 single base substitution A T intron_variant MELA-AU 18 45895243 45895243 single base substitution G A intron_variant MELA-AU 18 45895304 45895304 single base substitution G A intron_variant MELA-AU 18 45895461 45895461 single base substitution C T intron_variant MELA-AU 18 45895536 45895536 single base substitution G A intron_variant MELA-AU 18 45895541 45895541 single base substitution G A intron_variant MELA-AU 18 45896002 45896002 single base substitution A C intron_variant MELA-AU 18 45896335 45896335 single base substitution G A intron_variant MELA-AU 18 45896359 45896359 single base substitution C T intron_variant MELA-AU 18 45896384 45896384 single base substitution G A intron_variant MELA-AU 18 45896455 45896455 single base substitution A G intron_variant MELA-AU 18 45896543 45896543 single base substitution C T intron_variant MELA-AU 18 45896544 45896544 single base substitution C T intron_variant MELA-AU 18 45896545 45896545 single base substitution C T intron_variant MELA-AU 18 45896659 45896659 single base substitution G A intron_variant MELA-AU 18 45896718 45896718 single base substitution C A intron_variant MELA-AU 18 45896937 45896937 single base substitution G A intron_variant MELA-AU 18 45897122 45897122 single base substitution C A intron_variant MELA-AU 18 45897169 45897169 single base substitution G A intron_variant MELA-AU 18 45897201 45897201 single base substitution C T intron_variant MELA-AU 18 45897308 45897308 single base substitution A G intron_variant MELA-AU 18 45897378 45897378 single base substitution G T intron_variant MELA-AU 18 45897387 45897387 single base substitution G A intron_variant MELA-AU 18 45897828 45897828 single base substitution G A intron_variant MELA-AU 18 45898219 45898219 single base substitution C T intron_variant MELA-AU 18 45898356 45898356 single base substitution G A intron_variant MELA-AU 18 45898572 45898572 single base substitution G A intron_variant MELA-AU 18 45898590 45898590 single base substitution C T intron_variant MELA-AU 18 45898736 45898736 single base substitution C T intron_variant MELA-AU 18 45898798 45898798 single base substitution G A intron_variant MELA-AU 18 45899010 45899010 single base substitution C T intron_variant MELA-AU 18 45899265 45899265 single base substitution C T intron_variant MELA-AU 18 45899529 45899529 single base substitution C T intron_variant MELA-AU 18 45899718 45899718 single base substitution C T intron_variant MELA-AU 18 45899735 45899735 single base substitution A G intron_variant MELA-AU 18 45899988 45899988 single base substitution C T intron_variant MELA-AU 18 45900109 45900109 single base substitution G A intron_variant MELA-AU 18 45900236 45900236 single base substitution G A intron_variant MELA-AU 18 45900286 45900286 single base substitution C T intron_variant MELA-AU 18 45900359 45900359 single base substitution C T intron_variant MELA-AU 18 45900458 45900458 single base substitution C T intron_variant MELA-AU 18 45900774 45900774 single base substitution G C intron_variant MELA-AU 18 45900845 45900845 single base substitution C T intron_variant MELA-AU 18 45900868 45900868 single base substitution C T intron_variant MELA-AU 18 45901042 45901042 single base substitution G A intron_variant MELA-AU 18 45901114 45901115 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45901282 45901282 single base substitution G A intron_variant MELA-AU 18 45901722 45901723 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45902297 45902297 single base substitution T C intron_variant MELA-AU 18 45902297 45902297 single base substitution T C upstream_gene_variant MELA-AU 18 45902307 45902307 insertion of <=200bp - TCTGTG intron_variant MELA-AU 18 45902307 45902307 insertion of <=200bp - TCTGTG upstream_gene_variant MELA-AU 18 45902440 45902440 single base substitution G A intron_variant MELA-AU 18 45902440 45902440 single base substitution G A upstream_gene_variant MELA-AU 18 45902626 45902626 single base substitution T C intron_variant MELA-AU 18 45902626 45902626 single base substitution T C upstream_gene_variant MELA-AU 18 45902699 45902699 single base substitution C T intron_variant MELA-AU 18 45902699 45902699 single base substitution C T upstream_gene_variant MELA-AU 18 45902705 45902705 single base substitution G A intron_variant MELA-AU 18 45902705 45902705 single base substitution G A upstream_gene_variant MELA-AU 18 45902715 45902715 single base substitution C T intron_variant MELA-AU 18 45902715 45902715 single base substitution C T upstream_gene_variant MELA-AU 18 45902747 45902747 single base substitution C T intron_variant MELA-AU 18 45902747 45902747 single base substitution C T upstream_gene_variant MELA-AU 18 45902762 45902762 single base substitution C T intron_variant MELA-AU 18 45902762 45902762 single base substitution C T upstream_gene_variant MELA-AU 18 45902971 45902971 single base substitution C T intron_variant MELA-AU 18 45902971 45902971 single base substitution C T upstream_gene_variant MELA-AU 18 45903277 45903277 single base substitution G A intron_variant MELA-AU 18 45903277 45903277 single base substitution G A upstream_gene_variant MELA-AU 18 45903446 45903447 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45903446 45903447 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 45903476 45903476 single base substitution C T intron_variant MELA-AU 18 45903476 45903476 single base substitution C T upstream_gene_variant MELA-AU 18 45903512 45903512 single base substitution G A intron_variant MELA-AU 18 45903512 45903512 single base substitution G A upstream_gene_variant MELA-AU 18 45903972 45903972 single base substitution C T intron_variant MELA-AU 18 45903972 45903972 single base substitution C T upstream_gene_variant MELA-AU 18 45904040 45904040 single base substitution G A intron_variant MELA-AU 18 45904040 45904040 single base substitution G A upstream_gene_variant MELA-AU 18 45904121 45904121 single base substitution G A intron_variant MELA-AU 18 45904121 45904121 single base substitution G A upstream_gene_variant MELA-AU 18 45904161 45904161 single base substitution C T intron_variant MELA-AU 18 45904161 45904161 single base substitution C T upstream_gene_variant MELA-AU 18 45904202 45904202 single base substitution G A intron_variant MELA-AU 18 45904202 45904202 single base substitution G A upstream_gene_variant MELA-AU 18 45904259 45904259 single base substitution C T intron_variant MELA-AU 18 45904259 45904259 single base substitution C T upstream_gene_variant MELA-AU 18 45904363 45904363 single base substitution A T intron_variant MELA-AU 18 45904363 45904363 single base substitution A T upstream_gene_variant MELA-AU 18 45904417 45904417 single base substitution G A intron_variant MELA-AU 18 45904417 45904417 single base substitution G A upstream_gene_variant MELA-AU 18 45904448 45904449 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45904448 45904449 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 45904912 45904912 single base substitution C T intron_variant MELA-AU 18 45904912 45904912 single base substitution C T upstream_gene_variant MELA-AU 18 45904927 45904927 single base substitution C T intron_variant MELA-AU 18 45904927 45904927 single base substitution C T upstream_gene_variant MELA-AU 18 45904994 45904994 single base substitution C T intron_variant MELA-AU 18 45904994 45904994 single base substitution C T upstream_gene_variant MELA-AU 18 45905037 45905037 single base substitution G A intron_variant MELA-AU 18 45905037 45905037 single base substitution G A upstream_gene_variant MELA-AU 18 45905052 45905052 single base substitution G A intron_variant MELA-AU 18 45905052 45905052 single base substitution G A upstream_gene_variant MELA-AU 18 45905254 45905254 single base substitution G A intron_variant MELA-AU 18 45905254 45905254 single base substitution G A upstream_gene_variant MELA-AU 18 45905363 45905363 single base substitution C T intron_variant MELA-AU 18 45905363 45905363 single base substitution C T upstream_gene_variant MELA-AU 18 45905823 45905823 single base substitution G T intron_variant MELA-AU 18 45905823 45905823 single base substitution G T upstream_gene_variant MELA-AU 18 45905954 45905954 single base substitution G A intron_variant MELA-AU 18 45905954 45905954 single base substitution G A upstream_gene_variant MELA-AU 18 45905965 45905965 single base substitution G A intron_variant MELA-AU 18 45905965 45905965 single base substitution G A upstream_gene_variant MELA-AU 18 45906179 45906179 single base substitution G A intron_variant MELA-AU 18 45906179 45906179 single base substitution G A upstream_gene_variant MELA-AU 18 45906190 45906190 single base substitution C T intron_variant MELA-AU 18 45906190 45906190 single base substitution C T upstream_gene_variant MELA-AU 18 45906268 45906268 single base substitution G A intron_variant MELA-AU 18 45906268 45906268 single base substitution G A upstream_gene_variant MELA-AU 18 45906398 45906398 single base substitution G A intron_variant MELA-AU 18 45906398 45906398 single base substitution G A upstream_gene_variant MELA-AU 18 45906614 45906614 single base substitution G A intron_variant MELA-AU 18 45906614 45906614 single base substitution G A upstream_gene_variant MELA-AU 18 45906643 45906643 single base substitution T G intron_variant MELA-AU 18 45906643 45906643 single base substitution T G upstream_gene_variant MELA-AU 18 45906693 45906694 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 45906693 45906694 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 45906743 45906743 single base substitution C T intron_variant MELA-AU 18 45906743 45906743 single base substitution C T upstream_gene_variant MELA-AU 18 45906761 45906761 single base substitution T C intron_variant MELA-AU 18 45906761 45906761 single base substitution T C upstream_gene_variant MELA-AU 18 45906778 45906778 single base substitution G A intron_variant MELA-AU 18 45906778 45906778 single base substitution G A upstream_gene_variant MELA-AU 18 45906904 45906904 single base substitution T C intron_variant MELA-AU 18 45906904 45906904 single base substitution T C upstream_gene_variant MELA-AU 18 45906939 45906939 single base substitution C T intron_variant MELA-AU 18 45906939 45906939 single base substitution C T upstream_gene_variant MELA-AU 18 45907100 45907100 single base substitution G A intron_variant MELA-AU 18 45907227 45907227 single base substitution G A intron_variant MELA-AU 18 45907368 45907368 single base substitution C T intron_variant MELA-AU 18 45907469 45907469 single base substitution G A intron_variant MELA-AU 18 45907508 45907508 single base substitution C T intron_variant MELA-AU 18 45907651 45907651 single base substitution G A intron_variant MELA-AU 18 45907691 45907691 single base substitution C T intron_variant MELA-AU 18 45907744 45907744 single base substitution A T intron_variant MELA-AU 18 45907856 45907856 single base substitution G A intron_variant MELA-AU 18 45908003 45908003 single base substitution G A intron_variant MELA-AU 18 45908052 45908052 single base substitution G A intron_variant MELA-AU 18 45908154 45908154 single base substitution A G intron_variant MELA-AU 18 45908212 45908212 single base substitution G A intron_variant MELA-AU 18 45908373 45908373 single base substitution G A intron_variant MELA-AU 18 45908480 45908480 single base substitution G A intron_variant MELA-AU 18 45908498 45908498 single base substitution C T intron_variant MELA-AU 18 45908627 45908627 single base substitution G A intron_variant MELA-AU 18 45909181 45909181 single base substitution G A intron_variant MELA-AU 18 45909506 45909506 single base substitution C T intron_variant MELA-AU 18 45909857 45909857 single base substitution G A intron_variant MELA-AU 18 45909927 45909927 single base substitution C T intron_variant MELA-AU 18 45910116 45910116 single base substitution G A intron_variant MELA-AU 18 45910468 45910468 single base substitution G A intron_variant MELA-AU 18 45910667 45910667 single base substitution C T intron_variant MELA-AU 18 45910809 45910809 single base substitution C A intron_variant MELA-AU 18 45910970 45910970 single base substitution C T intron_variant MELA-AU 18 45911083 45911083 single base substitution C T intron_variant MELA-AU 18 45911144 45911144 single base substitution C T intron_variant MELA-AU 18 45911458 45911458 single base substitution G A intron_variant MELA-AU 18 45911487 45911487 single base substitution C T intron_variant MELA-AU 18 45911533 45911533 single base substitution C T intron_variant MELA-AU 18 45911844 45911844 single base substitution C T intron_variant MELA-AU 18 45911869 45911869 single base substitution G A intron_variant MELA-AU 18 45911911 45911911 single base substitution C T intron_variant MELA-AU 18 45912271 45912271 single base substitution C T intron_variant MELA-AU 18 45912335 45912335 single base substitution G A intron_variant MELA-AU 18 45912399 45912399 single base substitution C T intron_variant MELA-AU 18 45912407 45912407 single base substitution G A intron_variant MELA-AU 18 45912455 45912455 single base substitution G A intron_variant MELA-AU 18 45912548 45912548 single base substitution G A intron_variant MELA-AU 18 45912848 45912848 single base substitution G A intron_variant MELA-AU 18 45912869 45912869 single base substitution G A intron_variant MELA-AU 18 45913074 45913074 single base substitution T G intron_variant MELA-AU 18 45913165 45913165 single base substitution G A intron_variant MELA-AU 18 45913230 45913230 single base substitution T A intron_variant MELA-AU 18 45913310 45913310 single base substitution T A intron_variant MELA-AU 18 45913417 45913417 single base substitution G A intron_variant MELA-AU 18 45913490 45913490 single base substitution G A intron_variant MELA-AU 18 45913556 45913556 single base substitution G A intron_variant MELA-AU 18 45913710 45913710 single base substitution C T intron_variant MELA-AU 18 45914696 45914696 single base substitution C T intron_variant MELA-AU 18 45914727 45914727 single base substitution C T intron_variant MELA-AU 18 45915047 45915047 single base substitution G A intron_variant MELA-AU 18 45915936 45915936 single base substitution G A intron_variant MELA-AU 18 45915950 45915950 single base substitution G C intron_variant MELA-AU 18 45916150 45916150 single base substitution C T intron_variant MELA-AU 18 45916183 45916183 single base substitution G A intron_variant MELA-AU 18 45916348 45916348 single base substitution T G intron_variant MELA-AU 18 45916403 45916403 single base substitution C T intron_variant MELA-AU 18 45916657 45916657 single base substitution C T intron_variant MELA-AU 18 45916746 45916746 single base substitution C T intron_variant MELA-AU 18 45916959 45916959 single base substitution C T intron_variant MELA-AU 18 45917017 45917017 single base substitution G A intron_variant MELA-AU 18 45917118 45917118 single base substitution C T intron_variant MELA-AU 18 45918023 45918023 single base substitution G A intron_variant MELA-AU 18 45918159 45918160 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45918372 45918372 single base substitution G A intron_variant MELA-AU 18 45918415 45918415 single base substitution G A intron_variant MELA-AU 18 45918443 45918444 multiple base substitution (>=2bp and <=200bp) TG GT intron_variant MELA-AU 18 45918544 45918544 single base substitution G A intron_variant MELA-AU 18 45919122 45919122 single base substitution G A intron_variant MELA-AU 18 45919135 45919135 single base substitution A G intron_variant MELA-AU 18 45919270 45919270 single base substitution G A intron_variant MELA-AU 18 45919733 45919733 single base substitution G A intron_variant MELA-AU 18 45919747 45919747 single base substitution C T intron_variant MELA-AU 18 45919931 45919931 single base substitution C T intron_variant MELA-AU 18 45920000 45920000 single base substitution G A intron_variant MELA-AU 18 45920160 45920160 single base substitution G A intron_variant MELA-AU 18 45920205 45920205 single base substitution C T intron_variant MELA-AU 18 45920830 45920830 single base substitution G A intron_variant MELA-AU 18 45920943 45920943 single base substitution G A intron_variant MELA-AU 18 45921178 45921178 single base substitution G A intron_variant MELA-AU 18 45921188 45921188 single base substitution T A intron_variant MELA-AU 18 45921335 45921335 single base substitution T A intron_variant MELA-AU 18 45921509 45921509 single base substitution C T intron_variant MELA-AU 18 45921571 45921571 single base substitution C T intron_variant MELA-AU 18 45921604 45921604 single base substitution C T intron_variant MELA-AU 18 45922060 45922060 single base substitution C T intron_variant MELA-AU 18 45922098 45922098 single base substitution C T intron_variant MELA-AU 18 45922143 45922143 single base substitution G A intron_variant MELA-AU 18 45922316 45922316 single base substitution G A intron_variant MELA-AU 18 45922322 45922322 single base substitution C T intron_variant MELA-AU 18 45922554 45922554 single base substitution C T intron_variant MELA-AU 18 45922580 45922580 single base substitution G A intron_variant MELA-AU 18 45922634 45922634 single base substitution G A intron_variant MELA-AU 18 45922728 45922728 single base substitution C T intron_variant MELA-AU 18 45922861 45922861 single base substitution G A intron_variant MELA-AU 18 45922983 45922983 single base substitution G A intron_variant MELA-AU 18 45923098 45923098 single base substitution C T intron_variant MELA-AU 18 45923532 45923532 single base substitution C T intron_variant MELA-AU 18 45923606 45923606 single base substitution G A intron_variant MELA-AU 18 45923653 45923653 single base substitution C G intron_variant MELA-AU 18 45923665 45923665 single base substitution C T intron_variant MELA-AU 18 45923777 45923777 single base substitution G A intron_variant MELA-AU 18 45923857 45923857 single base substitution C T intron_variant MELA-AU 18 45923906 45923906 single base substitution C T intron_variant MELA-AU 18 45924291 45924291 single base substitution G A intron_variant MELA-AU 18 45924303 45924303 single base substitution C T intron_variant MELA-AU 18 45924354 45924354 single base substitution C T intron_variant MELA-AU 18 45924444 45924444 single base substitution C T intron_variant MELA-AU 18 45924490 45924490 single base substitution G A intron_variant MELA-AU 18 45924631 45924631 single base substitution C T intron_variant MELA-AU 18 45924671 45924671 single base substitution G A intron_variant MELA-AU 18 45924749 45924749 single base substitution C A intron_variant MELA-AU 18 45924831 45924831 single base substitution G A intron_variant MELA-AU 18 45924863 45924863 single base substitution C T intron_variant MELA-AU 18 45924871 45924871 single base substitution C T intron_variant MELA-AU 18 45925049 45925049 single base substitution C A intron_variant MELA-AU 18 45925057 45925057 single base substitution C A intron_variant MELA-AU 18 45925073 45925073 single base substitution A G intron_variant MELA-AU 18 45925121 45925121 single base substitution C T intron_variant MELA-AU 18 45925150 45925150 single base substitution G A intron_variant MELA-AU 18 45925343 45925343 single base substitution C T intron_variant MELA-AU 18 45925634 45925634 single base substitution G A intron_variant MELA-AU 18 45925677 45925677 single base substitution C T intron_variant MELA-AU 18 45925705 45925705 single base substitution G A intron_variant MELA-AU 18 45925861 45925861 single base substitution G A intron_variant MELA-AU 18 45925967 45925967 single base substitution G A intron_variant MELA-AU 18 45926096 45926096 single base substitution A T intron_variant MELA-AU 18 45926165 45926165 single base substitution C T intron_variant MELA-AU 18 45926272 45926272 single base substitution C T intron_variant MELA-AU 18 45926279 45926279 single base substitution C T intron_variant MELA-AU 18 45926357 45926357 single base substitution C T intron_variant MELA-AU 18 45927417 45927417 single base substitution C T intron_variant MELA-AU 18 45927719 45927719 single base substitution G A intron_variant MELA-AU 18 45927934 45927934 single base substitution C T intron_variant MELA-AU 18 45927942 45927942 single base substitution C T intron_variant MELA-AU 18 45928034 45928034 single base substitution G A intron_variant MELA-AU 18 45928145 45928145 single base substitution C T intron_variant MELA-AU 18 45928463 45928463 single base substitution C T intron_variant MELA-AU 18 45928578 45928578 single base substitution G A intron_variant MELA-AU 18 45928677 45928677 single base substitution C T intron_variant MELA-AU 18 45928757 45928757 single base substitution C T intron_variant MELA-AU 18 45928902 45928902 single base substitution C T intron_variant MELA-AU 18 45929065 45929065 single base substitution G A intron_variant MELA-AU 18 45929222 45929222 single base substitution T A intron_variant MELA-AU 18 45929793 45929793 single base substitution G A intron_variant MELA-AU 18 45929966 45929966 single base substitution G A intron_variant MELA-AU 18 45930062 45930062 single base substitution T C intron_variant MELA-AU 18 45930384 45930384 single base substitution G A intron_variant MELA-AU 18 45930386 45930386 single base substitution G A intron_variant MELA-AU 18 45930421 45930421 single base substitution C T intron_variant MELA-AU 18 45930490 45930490 single base substitution G A intron_variant MELA-AU 18 45930505 45930505 single base substitution C T intron_variant MELA-AU 18 45930531 45930531 single base substitution G A intron_variant MELA-AU 18 45930550 45930550 single base substitution G A intron_variant MELA-AU 18 45930577 45930577 single base substitution C T intron_variant MELA-AU 18 45930649 45930649 single base substitution G A intron_variant MELA-AU 18 45930815 45930815 single base substitution G A intron_variant MELA-AU 18 45931111 45931111 single base substitution G A intron_variant MELA-AU 18 45931315 45931315 single base substitution A C intron_variant MELA-AU 18 45931585 45931585 single base substitution G A intron_variant MELA-AU 18 45931589 45931589 single base substitution G A intron_variant MELA-AU 18 45931982 45931982 single base substitution G A intron_variant MELA-AU 18 45932254 45932254 single base substitution C T intron_variant MELA-AU 18 45932621 45932621 single base substitution C T intron_variant MELA-AU 18 45932793 45932793 single base substitution G A intron_variant MELA-AU 18 45932841 45932841 single base substitution C T intron_variant MELA-AU 18 45933425 45933425 single base substitution C T intron_variant MELA-AU 18 45933610 45933610 single base substitution G A intron_variant MELA-AU 18 45933779 45933779 single base substitution G A intron_variant MELA-AU 18 45933806 45933806 single base substitution G A intron_variant MELA-AU 18 45933868 45933878 deletion of <=200bp TGGGCTTGGGG - intron_variant MELA-AU 18 45933936 45933936 single base substitution C T intron_variant MELA-AU 18 45935037 45935037 single base substitution C T intron_variant MELA-AU 18 45935042 45935042 single base substitution G A intron_variant MELA-AU 18 45935576 45935576 single base substitution C T intron_variant MELA-AU 18 45936759 45936759 single base substitution C T intron_variant MELA-AU 18 45936759 45936759 single base substitution C T upstream_gene_variant MELA-AU 18 45936808 45936808 single base substitution G A intron_variant MELA-AU 18 45936808 45936808 single base substitution G A upstream_gene_variant MELA-AU 18 45936820 45936820 single base substitution C T intron_variant MELA-AU 18 45936820 45936820 single base substitution C T upstream_gene_variant MELA-AU 18 45936832 45936832 single base substitution C T intron_variant MELA-AU 18 45936832 45936832 single base substitution C T upstream_gene_variant MELA-AU 18 45936847 45936848 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 45936847 45936848 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 45936852 45936852 single base substitution G A intron_variant MELA-AU 18 45936852 45936852 single base substitution G A upstream_gene_variant MELA-AU 18 45937880 45937880 single base substitution G A upstream_gene_variant MELA-AU 18 45937993 45937993 single base substitution G A upstream_gene_variant MELA-AU 18 45938654 45938654 single base substitution C T upstream_gene_variant MELA-AU 18 45938956 45938956 single base substitution G C upstream_gene_variant MELA-AU 18 45939078 45939078 single base substitution G A upstream_gene_variant MELA-AU 18 45939815 45939815 single base substitution C A upstream_gene_variant MELA-AU 18 45939842 45939842 single base substitution C T upstream_gene_variant MELA-AU 18 45940032 45940032 single base substitution C T upstream_gene_variant MELA-AU 18 45940109 45940109 single base substitution C T upstream_gene_variant MELA-AU 18 45940189 45940189 single base substitution C T upstream_gene_variant MELA-AU 18 45940192 45940192 single base substitution C T upstream_gene_variant MELA-AU 18 45940233 45940233 single base substitution C T upstream_gene_variant MELA-AU 18 45940294 45940294 single base substitution C T upstream_gene_variant MELA-AU 18 45940315 45940315 single base substitution C T upstream_gene_variant MELA-AU 18 45940450 45940450 single base substitution G A upstream_gene_variant MELA-AU 18 45940663 45940663 single base substitution C T upstream_gene_variant MELA-AU 18 45940704 45940704 single base substitution C T upstream_gene_variant MELA-AU 18 45940705 45940705 single base substitution C T upstream_gene_variant MELA-AU 18 45940818 45940819 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 45940881 45940881 single base substitution C T upstream_gene_variant MELA-AU 18 45940912 45940912 single base substitution G A upstream_gene_variant MELA-AU 18 45941146 45941146 single base substitution C T upstream_gene_variant MELA-AU 18 45941223 45941223 single base substitution C T upstream_gene_variant MELA-AU 18 45941588 45941588 single base substitution C T upstream_gene_variant MELA-AU 18 45941634 45941634 single base substitution G A upstream_gene_variant MELA-AU 18 45941725 45941725 single base substitution C T upstream_gene_variant ORCA-IN 18 45576288 45576288 single base substitution G A intron_variant ORCA-IN 18 45595636 45595636 single base substitution G A intron_variant ORCA-IN 18 45602856 45602856 single base substitution C T intron_variant ORCA-IN 18 45615910 45615910 single base substitution C G intron_variant ORCA-IN 18 45661124 45661124 single base substitution C T intron_variant ORCA-IN 18 45663882 45663882 single base substitution C T intron_variant ORCA-IN 18 45663882 45663882 single base substitution C T upstream_gene_variant ORCA-IN 18 45676175 45676176 deletion of <=200bp TC - intron_variant ORCA-IN 18 45702442 45702442 single base substitution G A intron_variant ORCA-IN 18 45704182 45704182 single base substitution C T intron_variant ORCA-IN 18 45715731 45715731 single base substitution C T intron_variant ORCA-IN 18 45743607 45743607 single base substitution C A intron_variant ORCA-IN 18 45746667 45746667 single base substitution C G intron_variant ORCA-IN 18 45754764 45754764 single base substitution C T intron_variant ORCA-IN 18 45766053 45766053 single base substitution C G intron_variant ORCA-IN 18 45791151 45791151 single base substitution G A intron_variant ORCA-IN 18 45796702 45796702 single base substitution C G intron_variant ORCA-IN 18 45818353 45818353 single base substitution G T intron_variant ORCA-IN 18 45868438 45868438 single base substitution G T intron_variant ORCA-IN 18 45868438 45868438 single base substitution G T upstream_gene_variant ORCA-IN 18 45891618 45891618 single base substitution G A intron_variant OV-AU 18 45550362 45550362 single base substitution G C downstream_gene_variant OV-AU 18 45551501 45551501 single base substitution T C downstream_gene_variant OV-AU 18 45555408 45555408 single base substitution C G 3_prime_UTR_variant OV-AU 18 45555642 45555642 single base substitution C T missense_variant A617T 1849G>A OV-AU 18 45569558 45569558 single base substitution A T intron_variant OV-AU 18 45569558 45569558 single base substitution A T upstream_gene_variant OV-AU 18 45572253 45572253 single base substitution T C intron_variant OV-AU 18 45572253 45572253 single base substitution T C upstream_gene_variant OV-AU 18 45589975 45589975 single base substitution G A intron_variant OV-AU 18 45597162 45597162 single base substitution C A intron_variant OV-AU 18 45598686 45598686 single base substitution G T intron_variant OV-AU 18 45606122 45606122 single base substitution G A intron_variant OV-AU 18 45618178 45618178 single base substitution G T intron_variant OV-AU 18 45632376 45632376 single base substitution G C intron_variant OV-AU 18 45633944 45633944 single base substitution T G intron_variant OV-AU 18 45634439 45634439 single base substitution G A intron_variant OV-AU 18 45635140 45635140 single base substitution C T intron_variant OV-AU 18 45652387 45652387 single base substitution G C intron_variant OV-AU 18 45661680 45661680 single base substitution G A intron_variant OV-AU 18 45665950 45665950 single base substitution C A intron_variant OV-AU 18 45665950 45665950 single base substitution C A upstream_gene_variant OV-AU 18 45669042 45669042 single base substitution G T intron_variant OV-AU 18 45669428 45669428 single base substitution T C intron_variant OV-AU 18 45680932 45680932 single base substitution T A intron_variant OV-AU 18 45709628 45709628 single base substitution C T intron_variant OV-AU 18 45711967 45711967 single base substitution C T intron_variant OV-AU 18 45714304 45714304 single base substitution A C intron_variant OV-AU 18 45714934 45714934 single base substitution C T intron_variant OV-AU 18 45718503 45718503 single base substitution C A intron_variant OV-AU 18 45721299 45721299 single base substitution T A intron_variant OV-AU 18 45733424 45733424 single base substitution C A intron_variant OV-AU 18 45733424 45733424 single base substitution C A upstream_gene_variant OV-AU 18 45748408 45748408 single base substitution C T intron_variant OV-AU 18 45768410 45768410 single base substitution G A intron_variant OV-AU 18 45771085 45771085 single base substitution A C intron_variant OV-AU 18 45773474 45773474 single base substitution T G intron_variant OV-AU 18 45800992 45800992 single base substitution C A intron_variant OV-AU 18 45800993 45800993 single base substitution C T intron_variant OV-AU 18 45811270 45811270 single base substitution G T intron_variant OV-AU 18 45816526 45816526 single base substitution T C intron_variant OV-AU 18 45824374 45824374 single base substitution G A intron_variant OV-AU 18 45825351 45825351 single base substitution C T intron_variant OV-AU 18 45826083 45826083 single base substitution A G intron_variant OV-AU 18 45827400 45827400 single base substitution C T intron_variant OV-AU 18 45841291 45841291 single base substitution G A intron_variant OV-AU 18 45849286 45849286 single base substitution G A intron_variant OV-AU 18 45849309 45849309 single base substitution A T intron_variant OV-AU 18 45849313 45849313 single base substitution T G intron_variant OV-AU 18 45854952 45854952 single base substitution C A intron_variant OV-AU 18 45868935 45868935 single base substitution A C intron_variant OV-AU 18 45868935 45868935 single base substitution A C upstream_gene_variant OV-AU 18 45878767 45878767 single base substitution C G intron_variant OV-AU 18 45884933 45884933 single base substitution A G intron_variant OV-AU 18 45896485 45896485 single base substitution C G intron_variant OV-AU 18 45896669 45896669 single base substitution G A intron_variant OV-AU 18 45903595 45903595 single base substitution A G intron_variant OV-AU 18 45903595 45903595 single base substitution A G upstream_gene_variant OV-AU 18 45915070 45915070 single base substitution T G intron_variant OV-AU 18 45917196 45917196 single base substitution G T intron_variant OV-AU 18 45917392 45917392 single base substitution C T intron_variant OV-AU 18 45919361 45919361 single base substitution G A intron_variant OV-AU 18 45920805 45920805 single base substitution T A intron_variant OV-AU 18 45940009 45940009 single base substitution G A upstream_gene_variant OV-AU 18 45940837 45940837 single base substitution T A upstream_gene_variant PACA-AU 18 45551506 45551506 single base substitution G T downstream_gene_variant PACA-AU 18 45552138 45552138 single base substitution C T downstream_gene_variant PACA-AU 18 45554114 45554114 single base substitution G A 3_prime_UTR_variant PACA-AU 18 45566318 45566318 single base substitution G A downstream_gene_variant PACA-AU 18 45566318 45566318 single base substitution G A synonymous_variant T387T 1161C>T PACA-AU 18 45573945 45573945 single base substitution T C intron_variant PACA-AU 18 45576865 45576865 single base substitution G A intron_variant PACA-AU 18 45580607 45580607 single base substitution G C intron_variant PACA-AU 18 45591723 45591723 single base substitution C A intron_variant PACA-AU 18 45601419 45601419 single base substitution A C intron_variant PACA-AU 18 45608340 45608340 single base substitution A C intron_variant PACA-AU 18 45637009 45637009 single base substitution G T intron_variant PACA-AU 18 45642674 45642674 single base substitution C A intron_variant PACA-AU 18 45645488 45645488 single base substitution A C intron_variant PACA-AU 18 45647784 45647784 single base substitution T A intron_variant PACA-AU 18 45648363 45648363 single base substitution T C intron_variant PACA-AU 18 45655616 45655616 single base substitution C G intron_variant PACA-AU 18 45660295 45660295 single base substitution C G intron_variant PACA-AU 18 45672009 45672009 single base substitution A T intron_variant PACA-AU 18 45687179 45687179 single base substitution G A intron_variant PACA-AU 18 45702093 45702093 single base substitution C A intron_variant PACA-AU 18 45704061 45704061 single base substitution T G intron_variant PACA-AU 18 45710342 45710342 single base substitution G A intron_variant PACA-AU 18 45734660 45734660 single base substitution T A intron_variant PACA-AU 18 45734660 45734660 single base substitution T A upstream_gene_variant PACA-AU 18 45735401 45735401 single base substitution C A intron_variant PACA-AU 18 45753405 45753405 single base substitution A G intron_variant PACA-AU 18 45755279 45755279 single base substitution C A intron_variant PACA-AU 18 45757110 45757110 single base substitution T A intron_variant PACA-AU 18 45759607 45759607 single base substitution C T intron_variant PACA-AU 18 45762329 45762329 single base substitution T A intron_variant PACA-AU 18 45779890 45779890 single base substitution G A intron_variant PACA-AU 18 45788387 45788387 single base substitution G T intron_variant PACA-AU 18 45791685 45791685 insertion of <=200bp - TAGTTTC intron_variant PACA-AU 18 45796169 45796169 single base substitution A G intron_variant PACA-AU 18 45797080 45797080 deletion of <=200bp T - intron_variant PACA-AU 18 45804545 45804545 single base substitution C G intron_variant PACA-AU 18 45807413 45807413 single base substitution C T intron_variant PACA-AU 18 45809506 45809506 single base substitution A T intron_variant PACA-AU 18 45812193 45812193 single base substitution A T intron_variant PACA-AU 18 45833204 45833204 single base substitution A G intron_variant PACA-AU 18 45840027 45840027 single base substitution T C intron_variant PACA-AU 18 45840356 45840356 single base substitution C T intron_variant PACA-AU 18 45842030 45842030 single base substitution G C intron_variant PACA-AU 18 45846053 45846053 single base substitution G C intron_variant PACA-AU 18 45855975 45855975 single base substitution C T intron_variant PACA-AU 18 45858410 45858410 single base substitution A T intron_variant PACA-AU 18 45859509 45859509 single base substitution G A intron_variant PACA-AU 18 45859872 45859872 single base substitution G A intron_variant PACA-AU 18 45860160 45860160 single base substitution C T intron_variant PACA-AU 18 45867068 45867068 single base substitution T A intron_variant PACA-AU 18 45867068 45867068 single base substitution T A upstream_gene_variant PACA-AU 18 45872241 45872255 deletion of <=200bp TGAACCTCAATTACA - intron_variant PACA-AU 18 45872666 45872666 single base substitution G A intron_variant PACA-AU 18 45873062 45873062 single base substitution C T 5_prime_UTR_variant PACA-AU 18 45873062 45873062 single base substitution C T intron_variant PACA-AU 18 45878457 45878457 single base substitution C A intron_variant PACA-AU 18 45899175 45899175 single base substitution G A intron_variant PACA-AU 18 45903085 45903085 single base substitution G A intron_variant PACA-AU 18 45903085 45903085 single base substitution G A upstream_gene_variant PACA-AU 18 45923788 45923788 single base substitution C T intron_variant PACA-AU 18 45930743 45930743 single base substitution G A intron_variant PACA-AU 18 45932708 45932708 single base substitution A G intron_variant PACA-AU 18 45934949 45934949 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 18 45934949 45934949 single base substitution G A intron_variant PACA-AU 18 45936315 45936315 single base substitution C T intron_variant PACA-AU 18 45936315 45936315 single base substitution C T upstream_gene_variant PACA-AU 18 45936316 45936316 single base substitution G A intron_variant PACA-AU 18 45936316 45936316 single base substitution G A upstream_gene_variant PACA-AU 18 45938241 45938241 single base substitution A T upstream_gene_variant PACA-CA 18 45556924 45556924 single base substitution C T intron_variant PACA-CA 18 45568117 45568117 single base substitution T A intron_variant PACA-CA 18 45568117 45568117 single base substitution T A upstream_gene_variant PACA-CA 18 45568118 45568118 single base substitution A T intron_variant PACA-CA 18 45568118 45568118 single base substitution A T upstream_gene_variant PACA-CA 18 45572746 45572746 single base substitution G A intron_variant PACA-CA 18 45573093 45573093 single base substitution T C intron_variant PACA-CA 18 45574869 45574869 insertion of <=200bp - C intron_variant PACA-CA 18 45580007 45580007 single base substitution A T intron_variant PACA-CA 18 45581253 45581253 deletion of <=200bp C - intron_variant PACA-CA 18 45583514 45583514 single base substitution T C intron_variant PACA-CA 18 45586333 45586333 single base substitution G T intron_variant PACA-CA 18 45591706 45591706 single base substitution T A intron_variant PACA-CA 18 45597785 45597785 single base substitution G C intron_variant PACA-CA 18 45609747 45609747 single base substitution C A intron_variant PACA-CA 18 45615714 45615714 single base substitution G A intron_variant PACA-CA 18 45616917 45616917 single base substitution C G intron_variant PACA-CA 18 45618230 45618230 single base substitution C T intron_variant PACA-CA 18 45618615 45618615 single base substitution G T intron_variant PACA-CA 18 45620793 45620793 single base substitution C T intron_variant PACA-CA 18 45634751 45634751 single base substitution G C intron_variant PACA-CA 18 45634756 45634756 single base substitution C T intron_variant PACA-CA 18 45644294 45644294 single base substitution T A intron_variant PACA-CA 18 45647785 45647785 single base substitution A T intron_variant PACA-CA 18 45655246 45655246 single base substitution A T intron_variant PACA-CA 18 45663684 45663684 single base substitution A C 5_prime_UTR_variant PACA-CA 18 45663684 45663684 single base substitution A C intron_variant PACA-CA 18 45664589 45664589 single base substitution C T intron_variant PACA-CA 18 45664589 45664589 single base substitution C T upstream_gene_variant PACA-CA 18 45666733 45666733 single base substitution G A intron_variant PACA-CA 18 45666733 45666733 single base substitution G A upstream_gene_variant PACA-CA 18 45667179 45667179 single base substitution C T intron_variant PACA-CA 18 45667179 45667179 single base substitution C T upstream_gene_variant PACA-CA 18 45667935 45667935 insertion of <=200bp - G intron_variant PACA-CA 18 45667935 45667935 insertion of <=200bp - G upstream_gene_variant PACA-CA 18 45671719 45671719 single base substitution C A intron_variant PACA-CA 18 45671844 45671844 single base substitution C T intron_variant PACA-CA 18 45681315 45681315 single base substitution A G intron_variant PACA-CA 18 45681540 45681540 single base substitution G A intron_variant PACA-CA 18 45687385 45687385 single base substitution A T intron_variant PACA-CA 18 45691008 45691008 deletion of <=200bp T - intron_variant PACA-CA 18 45699785 45699785 single base substitution A G intron_variant PACA-CA 18 45701514 45701514 insertion of <=200bp - A intron_variant PACA-CA 18 45705404 45705404 single base substitution T C intron_variant PACA-CA 18 45707871 45707871 single base substitution T C intron_variant PACA-CA 18 45722340 45722340 single base substitution G A intron_variant PACA-CA 18 45725502 45725502 insertion of <=200bp - T intron_variant PACA-CA 18 45726495 45726495 single base substitution C T intron_variant PACA-CA 18 45727432 45727432 single base substitution G A intron_variant PACA-CA 18 45738700 45738700 single base substitution G T intron_variant PACA-CA 18 45738702 45738702 single base substitution G T intron_variant PACA-CA 18 45740547 45740547 single base substitution G A intron_variant PACA-CA 18 45754345 45754345 single base substitution C T intron_variant PACA-CA 18 45761045 45761045 single base substitution G A intron_variant PACA-CA 18 45763355 45763355 single base substitution G T intron_variant PACA-CA 18 45763906 45763906 single base substitution C G intron_variant PACA-CA 18 45764510 45764510 single base substitution G A intron_variant PACA-CA 18 45764948 45764948 single base substitution A T intron_variant PACA-CA 18 45768635 45768635 single base substitution C G intron_variant PACA-CA 18 45768710 45768710 single base substitution C T intron_variant PACA-CA 18 45768858 45768858 single base substitution A G intron_variant PACA-CA 18 45769334 45769334 deletion of <=200bp A - intron_variant PACA-CA 18 45771404 45771404 single base substitution C T intron_variant PACA-CA 18 45782914 45782914 single base substitution T G intron_variant PACA-CA 18 45783746 45783746 single base substitution C A intron_variant PACA-CA 18 45785068 45785068 single base substitution A G intron_variant PACA-CA 18 45790941 45790941 single base substitution G T intron_variant PACA-CA 18 45800850 45800850 single base substitution T C intron_variant PACA-CA 18 45802224 45802224 single base substitution G A intron_variant PACA-CA 18 45804525 45804525 single base substitution A G intron_variant PACA-CA 18 45805714 45805714 single base substitution G A intron_variant PACA-CA 18 45818525 45818525 single base substitution C T intron_variant PACA-CA 18 45825659 45825659 single base substitution T C intron_variant PACA-CA 18 45836328 45836328 single base substitution C T intron_variant PACA-CA 18 45839325 45839325 single base substitution C T intron_variant PACA-CA 18 45844300 45844300 single base substitution G A intron_variant PACA-CA 18 45853295 45853295 single base substitution C T intron_variant PACA-CA 18 45857709 45857709 single base substitution T A intron_variant PACA-CA 18 45864910 45864910 single base substitution G A intron_variant PACA-CA 18 45864910 45864910 single base substitution G A upstream_gene_variant PACA-CA 18 45866245 45866245 single base substitution C T intron_variant PACA-CA 18 45866245 45866245 single base substitution C T upstream_gene_variant PACA-CA 18 45867023 45867023 single base substitution C T intron_variant PACA-CA 18 45867023 45867023 single base substitution C T upstream_gene_variant PACA-CA 18 45867282 45867282 single base substitution C T intron_variant PACA-CA 18 45867282 45867282 single base substitution C T upstream_gene_variant PACA-CA 18 45871784 45871784 single base substitution G C intron_variant PACA-CA 18 45883602 45883602 single base substitution G T intron_variant PACA-CA 18 45885217 45885217 single base substitution A G intron_variant PACA-CA 18 45886652 45886652 single base substitution G A intron_variant PACA-CA 18 45886994 45886994 single base substitution G A intron_variant PACA-CA 18 45888284 45888284 single base substitution C T intron_variant PACA-CA 18 45892238 45892238 single base substitution A C intron_variant PACA-CA 18 45894191 45894191 single base substitution G A intron_variant PACA-CA 18 45899297 45899297 single base substitution G A intron_variant PACA-CA 18 45901204 45901204 single base substitution C A intron_variant PACA-CA 18 45905067 45905067 deletion of <=200bp A - intron_variant PACA-CA 18 45905067 45905067 deletion of <=200bp A - upstream_gene_variant PACA-CA 18 45909779 45909779 single base substitution G A intron_variant PACA-CA 18 45914696 45914696 single base substitution C T intron_variant PACA-CA 18 45920825 45920825 single base substitution C A intron_variant PACA-CA 18 45921819 45921819 single base substitution G A intron_variant PACA-CA 18 45922223 45922223 single base substitution G A intron_variant PACA-CA 18 45925189 45925189 single base substitution C T intron_variant PACA-CA 18 45927849 45927849 single base substitution G A intron_variant PACA-CA 18 45932988 45932988 single base substitution G C intron_variant PACA-CA 18 45940511 45940511 single base substitution T G upstream_gene_variant PAEN-AU 18 45563964 45563964 single base substitution G A downstream_gene_variant PAEN-AU 18 45563964 45563964 single base substitution G A intron_variant PAEN-AU 18 45596904 45596904 single base substitution C T intron_variant PAEN-AU 18 45604282 45604282 single base substitution A G intron_variant PAEN-AU 18 45633206 45633206 single base substitution T G intron_variant PAEN-AU 18 45643171 45643171 single base substitution C T intron_variant PAEN-AU 18 45669023 45669023 single base substitution G C intron_variant PAEN-AU 18 45677458 45677458 single base substitution T C intron_variant PAEN-AU 18 45752844 45752844 single base substitution G A intron_variant PAEN-AU 18 45763214 45763214 single base substitution A T intron_variant PAEN-AU 18 45764454 45764454 insertion of <=200bp - A intron_variant PAEN-AU 18 45772019 45772019 single base substitution G A intron_variant PAEN-AU 18 45801220 45801220 single base substitution T G intron_variant PAEN-AU 18 45814935 45814935 single base substitution G A intron_variant PAEN-AU 18 45835119 45835119 single base substitution G T intron_variant PAEN-AU 18 45870101 45870101 single base substitution C A intron_variant PAEN-AU 18 45921266 45921266 single base substitution C T intron_variant PAEN-AU 18 45927393 45927393 single base substitution G A intron_variant PAEN-AU 18 45930541 45930541 single base substitution T C intron_variant PAEN-IT 18 45555852 45555852 single base substitution G A synonymous_variant L547L 1639C>T PAEN-IT 18 45574750 45574750 single base substitution C G intron_variant PAEN-IT 18 45577159 45577159 single base substitution C T intron_variant PAEN-IT 18 45604023 45604023 single base substitution A G intron_variant PAEN-IT 18 45691748 45691748 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PAEN-IT 18 45691748 45691748 single base substitution G A intron_variant PAEN-IT 18 45691748 45691748 single base substitution G A upstream_gene_variant PAEN-IT 18 45695345 45695345 single base substitution G A intron_variant PAEN-IT 18 45695345 45695345 single base substitution G A upstream_gene_variant PAEN-IT 18 45702545 45702545 single base substitution G T intron_variant PAEN-IT 18 45703343 45703343 single base substitution C T intron_variant PAEN-IT 18 45724123 45724123 single base substitution A T intron_variant PAEN-IT 18 45725577 45725577 single base substitution G A intron_variant PAEN-IT 18 45732943 45732943 single base substitution A T intron_variant PAEN-IT 18 45732943 45732943 single base substitution A T upstream_gene_variant PAEN-IT 18 45760898 45760898 single base substitution T C intron_variant PAEN-IT 18 45763285 45763285 single base substitution G T intron_variant PAEN-IT 18 45846416 45846416 single base substitution T C intron_variant PAEN-IT 18 45852913 45852913 single base substitution G T intron_variant PAEN-IT 18 45864152 45864152 single base substitution G T intron_variant PAEN-IT 18 45867648 45867648 single base substitution G C intron_variant PAEN-IT 18 45867648 45867648 single base substitution G C upstream_gene_variant PAEN-IT 18 45919988 45919988 single base substitution C T intron_variant PBCA-DE 18 45548197 45548197 insertion of <=200bp - A downstream_gene_variant PBCA-DE 18 45567634 45567634 single base substitution G A intron_variant PBCA-DE 18 45567634 45567634 single base substitution G A upstream_gene_variant PBCA-DE 18 45571040 45571040 single base substitution C T intron_variant PBCA-DE 18 45571040 45571040 single base substitution C T upstream_gene_variant PBCA-DE 18 45571784 45571784 single base substitution A C intron_variant PBCA-DE 18 45571784 45571784 single base substitution A C upstream_gene_variant PBCA-DE 18 45571994 45571994 single base substitution C T intron_variant PBCA-DE 18 45571994 45571994 single base substitution C T upstream_gene_variant PBCA-DE 18 45580440 45580440 single base substitution A T intron_variant PBCA-DE 18 45584328 45584328 single base substitution C A intron_variant PBCA-DE 18 45591706 45591706 single base substitution T A intron_variant PBCA-DE 18 45594460 45594460 single base substitution C T intron_variant PBCA-DE 18 45594466 45594466 single base substitution G C intron_variant PBCA-DE 18 45607149 45607149 single base substitution A G intron_variant PBCA-DE 18 45623944 45623944 insertion of <=200bp - TG intron_variant PBCA-DE 18 45628220 45628220 single base substitution C G intron_variant PBCA-DE 18 45643599 45643599 single base substitution T C intron_variant PBCA-DE 18 45645055 45645055 single base substitution A C intron_variant PBCA-DE 18 45647785 45647785 single base substitution A T intron_variant PBCA-DE 18 45701192 45701192 single base substitution C A intron_variant PBCA-DE 18 45725603 45725603 single base substitution G A intron_variant PBCA-DE 18 45734799 45734799 single base substitution G T intron_variant PBCA-DE 18 45734799 45734799 single base substitution G T upstream_gene_variant PBCA-DE 18 45736802 45736802 single base substitution C T intron_variant PBCA-DE 18 45747989 45747989 insertion of <=200bp - C intron_variant PBCA-DE 18 45752051 45752051 single base substitution G A intron_variant PBCA-DE 18 45760310 45760310 single base substitution A G intron_variant PBCA-DE 18 45765741 45765741 single base substitution T A intron_variant PBCA-DE 18 45771128 45771128 single base substitution A G intron_variant PBCA-DE 18 45791301 45791302 deletion of <=200bp AA - intron_variant PBCA-DE 18 45794968 45794968 insertion of <=200bp - G intron_variant PBCA-DE 18 45795154 45795154 single base substitution C A intron_variant PBCA-DE 18 45845484 45845484 insertion of <=200bp - TGTGTGTGTGTGTG intron_variant PBCA-DE 18 45846779 45846779 single base substitution C T intron_variant PBCA-DE 18 45859001 45859001 single base substitution C T intron_variant PBCA-DE 18 45863134 45863134 single base substitution C A intron_variant PBCA-DE 18 45877232 45877232 single base substitution A G intron_variant PBCA-DE 18 45886406 45886406 single base substitution C T intron_variant PBCA-DE 18 45887022 45887022 single base substitution C T intron_variant PBCA-DE 18 45888537 45888537 single base substitution C T intron_variant PBCA-DE 18 45893958 45893958 single base substitution G A intron_variant PBCA-DE 18 45902717 45902717 single base substitution G A intron_variant PBCA-DE 18 45902717 45902717 single base substitution G A upstream_gene_variant PBCA-DE 18 45924677 45924677 single base substitution G T intron_variant PRAD-CA 18 45550975 45550975 single base substitution C T downstream_gene_variant PRAD-CA 18 45606100 45606100 single base substitution C T intron_variant PRAD-CA 18 45626245 45626245 single base substitution G T intron_variant PRAD-CA 18 45631629 45631629 single base substitution A G intron_variant PRAD-CA 18 45643553 45643553 single base substitution G A intron_variant PRAD-CA 18 45657851 45657851 single base substitution T G intron_variant PRAD-CA 18 45675523 45675523 single base substitution A G intron_variant PRAD-CA 18 45698744 45698744 single base substitution G A intron_variant PRAD-CA 18 45706193 45706193 single base substitution C T intron_variant PRAD-CA 18 45771461 45771461 single base substitution G A intron_variant PRAD-CA 18 45810167 45810167 single base substitution C A intron_variant PRAD-CA 18 45814110 45814110 single base substitution G T intron_variant PRAD-CA 18 45831438 45831438 single base substitution G T intron_variant PRAD-CA 18 45848811 45848811 single base substitution A T intron_variant PRAD-CA 18 45893573 45893573 single base substitution T C intron_variant PRAD-CA 18 45893742 45893742 single base substitution T A intron_variant PRAD-CA 18 45903580 45903580 single base substitution C T intron_variant PRAD-CA 18 45903580 45903580 single base substitution C T upstream_gene_variant PRAD-CA 18 45912647 45912647 single base substitution C T intron_variant PRAD-CA 18 45923201 45923201 single base substitution G T intron_variant PRAD-CA 18 45933464 45933464 single base substitution A G intron_variant PRAD-CA 18 45936226 45936226 single base substitution G C intron_variant PRAD-CA 18 45936226 45936226 single base substitution G C upstream_gene_variant PRAD-UK 18 45597326 45597326 single base substitution C G intron_variant PRAD-UK 18 45604524 45604524 single base substitution A C intron_variant PRAD-UK 18 45605036 45605036 single base substitution A G intron_variant PRAD-UK 18 45607916 45607916 single base substitution G A intron_variant PRAD-UK 18 45608831 45608831 single base substitution G T intron_variant PRAD-UK 18 45611304 45611304 single base substitution C T intron_variant PRAD-UK 18 45615018 45615018 single base substitution G C intron_variant PRAD-UK 18 45633740 45633740 single base substitution A T intron_variant PRAD-UK 18 45638339 45638339 single base substitution A G intron_variant PRAD-UK 18 45649523 45649523 single base substitution T C intron_variant PRAD-UK 18 45652682 45652682 single base substitution T C intron_variant PRAD-UK 18 45660356 45660356 single base substitution G T intron_variant PRAD-UK 18 45667659 45667659 single base substitution G A intron_variant PRAD-UK 18 45667659 45667659 single base substitution G A upstream_gene_variant PRAD-UK 18 45668294 45668297 deletion of <=200bp TTCA - intron_variant PRAD-UK 18 45668294 45668297 deletion of <=200bp TTCA - upstream_gene_variant PRAD-UK 18 45684938 45684938 single base substitution G C intron_variant PRAD-UK 18 45699212 45699212 single base substitution G T intron_variant PRAD-UK 18 45714606 45714606 single base substitution C T intron_variant PRAD-UK 18 45715639 45715639 single base substitution T A intron_variant PRAD-UK 18 45719552 45719552 single base substitution G C intron_variant PRAD-UK 18 45728137 45728137 single base substitution A G intron_variant PRAD-UK 18 45744948 45744948 single base substitution C A intron_variant PRAD-UK 18 45767747 45767747 single base substitution G A intron_variant PRAD-UK 18 45773869 45773869 single base substitution C A intron_variant PRAD-UK 18 45774813 45774813 single base substitution G A intron_variant PRAD-UK 18 45787901 45787901 single base substitution G A intron_variant PRAD-UK 18 45789387 45789387 single base substitution C T intron_variant PRAD-UK 18 45792798 45792798 single base substitution T C intron_variant PRAD-UK 18 45795278 45795278 single base substitution C G intron_variant PRAD-UK 18 45808793 45808793 single base substitution T A intron_variant PRAD-UK 18 45829170 45829170 single base substitution G A intron_variant PRAD-UK 18 45835760 45835760 single base substitution G C intron_variant PRAD-UK 18 45837403 45837403 single base substitution A G intron_variant PRAD-UK 18 45839796 45839796 single base substitution G A intron_variant PRAD-UK 18 45840692 45840692 single base substitution G T intron_variant PRAD-UK 18 45851106 45851106 single base substitution A G intron_variant PRAD-UK 18 45854931 45854931 single base substitution G A intron_variant PRAD-UK 18 45864968 45864968 insertion of <=200bp - AC intron_variant PRAD-UK 18 45864968 45864968 insertion of <=200bp - AC upstream_gene_variant PRAD-UK 18 45871564 45871564 single base substitution G A intron_variant PRAD-UK 18 45892722 45892722 single base substitution T C intron_variant PRAD-UK 18 45915114 45915114 single base substitution C G intron_variant PRAD-UK 18 45915456 45915456 single base substitution G C intron_variant PRAD-UK 18 45916991 45916991 single base substitution C T intron_variant PRAD-UK 18 45922787 45922787 single base substitution A C intron_variant PRAD-UK 18 45937718 45937718 single base substitution G T upstream_gene_variant PRAD-UK 18 45939988 45939988 single base substitution A G upstream_gene_variant RECA-EU 18 45556288 45556288 single base substitution A G intron_variant RECA-EU 18 45559000 45559000 single base substitution G T intron_variant RECA-EU 18 45560339 45560339 single base substitution A G intron_variant RECA-EU 18 45562229 45562229 single base substitution A T intron_variant RECA-EU 18 45563162 45563162 single base substitution G T downstream_gene_variant RECA-EU 18 45563162 45563162 single base substitution G T intron_variant RECA-EU 18 45563939 45563939 single base substitution G A downstream_gene_variant RECA-EU 18 45563939 45563939 single base substitution G A intron_variant RECA-EU 18 45575537 45575537 single base substitution A T intron_variant RECA-EU 18 45579323 45579323 single base substitution C T intron_variant RECA-EU 18 45583042 45583042 single base substitution A T intron_variant RECA-EU 18 45584069 45584069 single base substitution T A intron_variant RECA-EU 18 45592132 45592132 single base substitution C T intron_variant RECA-EU 18 45593594 45593594 single base substitution G A intron_variant RECA-EU 18 45596391 45596391 single base substitution T C intron_variant RECA-EU 18 45603176 45603176 single base substitution G A intron_variant RECA-EU 18 45606041 45606041 single base substitution T C intron_variant RECA-EU 18 45624115 45624115 single base substitution G A intron_variant RECA-EU 18 45635564 45635564 single base substitution G C intron_variant RECA-EU 18 45641047 45641047 single base substitution C A intron_variant RECA-EU 18 45641935 45641935 single base substitution C G intron_variant RECA-EU 18 45642022 45642022 single base substitution G A intron_variant RECA-EU 18 45652460 45652460 single base substitution G A intron_variant RECA-EU 18 45654826 45654826 single base substitution A T intron_variant RECA-EU 18 45661941 45661941 single base substitution G A intron_variant RECA-EU 18 45664645 45664645 single base substitution C A intron_variant RECA-EU 18 45664645 45664645 single base substitution C A upstream_gene_variant RECA-EU 18 45670306 45670306 single base substitution C A intron_variant RECA-EU 18 45683388 45683388 single base substitution A C intron_variant RECA-EU 18 45695517 45695517 single base substitution T C intron_variant RECA-EU 18 45695517 45695517 single base substitution T C upstream_gene_variant RECA-EU 18 45695533 45695533 single base substitution G A intron_variant RECA-EU 18 45695533 45695533 single base substitution G A upstream_gene_variant RECA-EU 18 45701289 45701289 single base substitution A C intron_variant RECA-EU 18 45706523 45706523 single base substitution C T intron_variant RECA-EU 18 45706524 45706524 single base substitution C T intron_variant RECA-EU 18 45707362 45707362 single base substitution C A intron_variant RECA-EU 18 45712966 45712966 single base substitution C G intron_variant RECA-EU 18 45720402 45720402 single base substitution T A intron_variant RECA-EU 18 45721119 45721119 single base substitution T C intron_variant RECA-EU 18 45727624 45727624 single base substitution A C intron_variant RECA-EU 18 45728685 45728685 single base substitution A T intron_variant RECA-EU 18 45734322 45734322 single base substitution G C intron_variant RECA-EU 18 45734322 45734322 single base substitution G C upstream_gene_variant RECA-EU 18 45743637 45743637 single base substitution C A intron_variant RECA-EU 18 45743942 45743942 single base substitution G A intron_variant RECA-EU 18 45746293 45746293 single base substitution T A intron_variant RECA-EU 18 45748881 45748881 single base substitution T A intron_variant RECA-EU 18 45749326 45749326 single base substitution C A intron_variant RECA-EU 18 45751708 45751708 single base substitution G T intron_variant RECA-EU 18 45756231 45756231 single base substitution G A intron_variant RECA-EU 18 45758797 45758797 single base substitution G A intron_variant RECA-EU 18 45761045 45761045 single base substitution G T intron_variant RECA-EU 18 45765328 45765328 single base substitution C T intron_variant RECA-EU 18 45772247 45772247 single base substitution T A intron_variant RECA-EU 18 45773920 45773920 single base substitution C T intron_variant RECA-EU 18 45778181 45778181 single base substitution C T intron_variant RECA-EU 18 45778469 45778469 single base substitution A T intron_variant RECA-EU 18 45779696 45779696 single base substitution C A intron_variant RECA-EU 18 45779853 45779853 single base substitution T A intron_variant RECA-EU 18 45780176 45780176 single base substitution T A intron_variant RECA-EU 18 45803864 45803864 single base substitution C A intron_variant RECA-EU 18 45804727 45804727 single base substitution A T intron_variant RECA-EU 18 45804893 45804893 single base substitution G A intron_variant RECA-EU 18 45818291 45818291 single base substitution G A intron_variant RECA-EU 18 45838699 45838699 single base substitution G T intron_variant RECA-EU 18 45842339 45842339 single base substitution C G intron_variant RECA-EU 18 45845295 45845295 single base substitution C T intron_variant RECA-EU 18 45850739 45850739 single base substitution A T intron_variant RECA-EU 18 45851305 45851305 single base substitution G A intron_variant RECA-EU 18 45852109 45852109 single base substitution G C intron_variant RECA-EU 18 45872003 45872003 single base substitution C G intron_variant RECA-EU 18 45873499 45873499 single base substitution T G intron_variant RECA-EU 18 45877229 45877229 single base substitution A G intron_variant RECA-EU 18 45879852 45879852 single base substitution G A intron_variant RECA-EU 18 45890849 45890849 single base substitution T G intron_variant RECA-EU 18 45899126 45899126 single base substitution C A intron_variant RECA-EU 18 45905216 45905216 single base substitution T C intron_variant RECA-EU 18 45905216 45905216 single base substitution T C upstream_gene_variant RECA-EU 18 45907629 45907629 single base substitution A T intron_variant RECA-EU 18 45913889 45913889 single base substitution C T intron_variant RECA-EU 18 45914027 45914027 single base substitution A T intron_variant RECA-EU 18 45922651 45922651 single base substitution C A intron_variant RECA-EU 18 45928542 45928542 single base substitution G A intron_variant RECA-EU 18 45929103 45929103 single base substitution G T intron_variant RECA-EU 18 45929185 45929185 single base substitution A G intron_variant RECA-EU 18 45940053 45940053 single base substitution C T upstream_gene_variant SKCA-BR 18 45549478 45549478 single base substitution C T downstream_gene_variant SKCA-BR 18 45551349 45551349 single base substitution G T downstream_gene_variant SKCA-BR 18 45551671 45551671 single base substitution C T downstream_gene_variant SKCA-BR 18 45553478 45553479 deletion of <=200bp CA - 3_prime_UTR_variant SKCA-BR 18 45553478 45553479 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 18 45555733 45555733 single base substitution C T synonymous_variant R586R 1758G>A SKCA-BR 18 45558278 45558278 single base substitution T C intron_variant SKCA-BR 18 45558482 45558482 single base substitution T A intron_variant SKCA-BR 18 45559889 45559889 single base substitution C T intron_variant SKCA-BR 18 45562683 45562683 single base substitution G A downstream_gene_variant SKCA-BR 18 45562683 45562683 single base substitution G A intron_variant SKCA-BR 18 45563766 45563766 single base substitution G A downstream_gene_variant SKCA-BR 18 45563766 45563766 single base substitution G A intron_variant SKCA-BR 18 45563767 45563767 single base substitution G A downstream_gene_variant SKCA-BR 18 45563767 45563767 single base substitution G A intron_variant SKCA-BR 18 45566797 45566797 single base substitution C T downstream_gene_variant SKCA-BR 18 45566797 45566797 single base substitution C T missense_variant E228K 682G>A SKCA-BR 18 45567084 45567084 insertion of <=200bp - TC downstream_gene_variant SKCA-BR 18 45567084 45567084 insertion of <=200bp - TC frameshift_variant D132E? SKCA-BR 18 45567147 45567147 single base substitution G T downstream_gene_variant SKCA-BR 18 45567147 45567147 single base substitution G T missense_variant A111D 332C>A SKCA-BR 18 45568011 45568011 single base substitution C T intron_variant SKCA-BR 18 45568011 45568011 single base substitution C T upstream_gene_variant SKCA-BR 18 45568574 45568574 single base substitution C T intron_variant SKCA-BR 18 45568574 45568574 single base substitution C T upstream_gene_variant SKCA-BR 18 45568802 45568802 single base substitution G A intron_variant SKCA-BR 18 45568802 45568802 single base substitution G A upstream_gene_variant SKCA-BR 18 45569537 45569537 single base substitution G A intron_variant SKCA-BR 18 45569537 45569537 single base substitution G A upstream_gene_variant SKCA-BR 18 45570108 45570108 single base substitution T G intron_variant SKCA-BR 18 45570108 45570108 single base substitution T G upstream_gene_variant SKCA-BR 18 45573221 45573221 single base substitution G A intron_variant SKCA-BR 18 45573950 45573950 single base substitution T C intron_variant SKCA-BR 18 45574255 45574255 single base substitution G A intron_variant SKCA-BR 18 45575114 45575114 single base substitution G A intron_variant SKCA-BR 18 45575313 45575313 single base substitution G A intron_variant SKCA-BR 18 45575369 45575369 single base substitution G A intron_variant SKCA-BR 18 45576126 45576126 single base substitution C T intron_variant SKCA-BR 18 45576553 45576553 single base substitution G A intron_variant SKCA-BR 18 45577550 45577550 single base substitution C T intron_variant SKCA-BR 18 45578070 45578070 single base substitution C T intron_variant SKCA-BR 18 45579227 45579227 single base substitution T C intron_variant SKCA-BR 18 45579721 45579721 single base substitution G A intron_variant SKCA-BR 18 45582036 45582036 single base substitution C A intron_variant SKCA-BR 18 45582844 45582844 single base substitution G A intron_variant SKCA-BR 18 45583411 45583411 single base substitution G A intron_variant SKCA-BR 18 45588014 45588014 single base substitution C T intron_variant SKCA-BR 18 45589316 45589316 single base substitution C G intron_variant SKCA-BR 18 45589520 45589520 single base substitution G A intron_variant SKCA-BR 18 45591493 45591493 single base substitution G C intron_variant SKCA-BR 18 45593930 45593930 single base substitution G T intron_variant SKCA-BR 18 45593986 45593986 single base substitution G A intron_variant SKCA-BR 18 45594034 45594034 single base substitution G A intron_variant SKCA-BR 18 45595344 45595344 single base substitution C T intron_variant SKCA-BR 18 45596162 45596162 single base substitution A T intron_variant SKCA-BR 18 45596399 45596399 single base substitution G A intron_variant SKCA-BR 18 45598109 45598109 single base substitution C G intron_variant SKCA-BR 18 45598350 45598350 single base substitution C T intron_variant SKCA-BR 18 45598894 45598894 single base substitution C T 5_prime_UTR_variant SKCA-BR 18 45598894 45598894 single base substitution C T intron_variant SKCA-BR 18 45599850 45599850 single base substitution G A intron_variant SKCA-BR 18 45600385 45600386 deletion of <=200bp CT - intron_variant SKCA-BR 18 45603433 45603435 deletion of <=200bp CAA - intron_variant SKCA-BR 18 45604054 45604054 single base substitution G A intron_variant SKCA-BR 18 45604055 45604055 single base substitution G A intron_variant SKCA-BR 18 45604095 45604095 single base substitution A C intron_variant SKCA-BR 18 45604717 45604717 single base substitution G A intron_variant SKCA-BR 18 45605666 45605666 single base substitution C T intron_variant SKCA-BR 18 45606727 45606727 single base substitution C T intron_variant SKCA-BR 18 45606757 45606757 single base substitution C T intron_variant SKCA-BR 18 45608982 45608982 single base substitution C A intron_variant SKCA-BR 18 45609762 45609762 single base substitution C T intron_variant SKCA-BR 18 45610942 45610942 single base substitution G A intron_variant SKCA-BR 18 45611576 45611576 single base substitution G A intron_variant SKCA-BR 18 45617477 45617477 single base substitution C T intron_variant SKCA-BR 18 45617680 45617680 single base substitution C T intron_variant SKCA-BR 18 45618897 45618897 single base substitution G A intron_variant SKCA-BR 18 45619294 45619294 single base substitution G A intron_variant SKCA-BR 18 45619612 45619612 single base substitution G A intron_variant SKCA-BR 18 45619613 45619613 single base substitution G T intron_variant SKCA-BR 18 45620140 45620140 single base substitution G T intron_variant SKCA-BR 18 45623251 45623251 single base substitution T C intron_variant SKCA-BR 18 45623756 45623756 single base substitution A G intron_variant SKCA-BR 18 45624896 45624896 single base substitution C T intron_variant SKCA-BR 18 45625964 45625964 single base substitution G A intron_variant SKCA-BR 18 45628452 45628452 single base substitution T A intron_variant SKCA-BR 18 45628671 45628671 single base substitution G A intron_variant SKCA-BR 18 45629381 45629381 single base substitution G A intron_variant SKCA-BR 18 45629655 45629655 single base substitution C T intron_variant SKCA-BR 18 45629973 45629973 single base substitution G A intron_variant SKCA-BR 18 45630131 45630131 single base substitution G A intron_variant SKCA-BR 18 45634036 45634036 single base substitution C T intron_variant SKCA-BR 18 45635842 45635842 single base substitution G C intron_variant SKCA-BR 18 45636052 45636052 single base substitution G A intron_variant SKCA-BR 18 45636427 45636428 deletion of <=200bp AC - intron_variant SKCA-BR 18 45636429 45636430 deletion of <=200bp AT - intron_variant SKCA-BR 18 45636430 45636430 single base substitution T A intron_variant SKCA-BR 18 45636647 45636647 single base substitution C T intron_variant SKCA-BR 18 45636701 45636701 insertion of <=200bp - CA intron_variant SKCA-BR 18 45636936 45636936 single base substitution C T intron_variant SKCA-BR 18 45637175 45637175 single base substitution G C intron_variant SKCA-BR 18 45637861 45637861 single base substitution A G intron_variant SKCA-BR 18 45638631 45638631 single base substitution C T intron_variant SKCA-BR 18 45638678 45638678 single base substitution A C intron_variant SKCA-BR 18 45639387 45639387 single base substitution G A intron_variant SKCA-BR 18 45639452 45639452 single base substitution G A intron_variant SKCA-BR 18 45641729 45641729 single base substitution C T intron_variant SKCA-BR 18 45641786 45641787 deletion of <=200bp AT - intron_variant SKCA-BR 18 45642778 45642778 single base substitution C T intron_variant SKCA-BR 18 45643294 45643294 single base substitution G A intron_variant SKCA-BR 18 45643318 45643318 single base substitution C T intron_variant SKCA-BR 18 45643319 45643319 single base substitution T A intron_variant SKCA-BR 18 45644369 45644369 single base substitution C T intron_variant SKCA-BR 18 45644779 45644779 single base substitution C T intron_variant SKCA-BR 18 45645721 45645721 single base substitution T C intron_variant SKCA-BR 18 45645732 45645732 single base substitution C G intron_variant SKCA-BR 18 45646387 45646387 single base substitution G A intron_variant SKCA-BR 18 45646502 45646502 single base substitution G A intron_variant SKCA-BR 18 45646695 45646695 single base substitution G A intron_variant SKCA-BR 18 45651560 45651560 single base substitution A G intron_variant SKCA-BR 18 45651899 45651899 single base substitution G A intron_variant SKCA-BR 18 45654609 45654609 single base substitution C T intron_variant SKCA-BR 18 45656632 45656632 single base substitution G A intron_variant SKCA-BR 18 45656643 45656643 single base substitution G A intron_variant SKCA-BR 18 45660100 45660100 single base substitution A G intron_variant SKCA-BR 18 45663301 45663301 single base substitution T C intron_variant SKCA-BR 18 45664800 45664800 single base substitution T G intron_variant SKCA-BR 18 45664800 45664800 single base substitution T G upstream_gene_variant SKCA-BR 18 45669666 45669666 single base substitution C T intron_variant SKCA-BR 18 45670000 45670000 single base substitution C T intron_variant SKCA-BR 18 45671098 45671098 single base substitution C T intron_variant SKCA-BR 18 45671557 45671557 single base substitution A T intron_variant SKCA-BR 18 45673584 45673584 single base substitution G A intron_variant SKCA-BR 18 45675162 45675162 single base substitution A T intron_variant SKCA-BR 18 45675193 45675193 single base substitution C A intron_variant SKCA-BR 18 45677523 45677523 single base substitution A G intron_variant SKCA-BR 18 45677543 45677543 single base substitution T G intron_variant SKCA-BR 18 45679885 45679885 single base substitution C T intron_variant SKCA-BR 18 45681592 45681592 single base substitution C T intron_variant SKCA-BR 18 45683193 45683193 insertion of <=200bp - CT intron_variant SKCA-BR 18 45683442 45683442 single base substitution G A intron_variant SKCA-BR 18 45683812 45683812 single base substitution G A intron_variant SKCA-BR 18 45686253 45686253 single base substitution G A intron_variant SKCA-BR 18 45687748 45687748 single base substitution C G intron_variant SKCA-BR 18 45688121 45688121 single base substitution C T intron_variant SKCA-BR 18 45688459 45688459 single base substitution A C intron_variant SKCA-BR 18 45689411 45689411 single base substitution G A intron_variant SKCA-BR 18 45693173 45693173 single base substitution T C intron_variant SKCA-BR 18 45693173 45693173 single base substitution T C upstream_gene_variant SKCA-BR 18 45693276 45693276 single base substitution A G intron_variant SKCA-BR 18 45693276 45693276 single base substitution A G upstream_gene_variant SKCA-BR 18 45693530 45693530 single base substitution G A intron_variant SKCA-BR 18 45693530 45693530 single base substitution G A upstream_gene_variant SKCA-BR 18 45693531 45693531 single base substitution G A intron_variant SKCA-BR 18 45693531 45693531 single base substitution G A upstream_gene_variant SKCA-BR 18 45693935 45693935 insertion of <=200bp - GTGTGTGTGTGTGTGTT intron_variant SKCA-BR 18 45693935 45693935 insertion of <=200bp - GTGTGTGTGTGTGTGTT upstream_gene_variant SKCA-BR 18 45695636 45695636 single base substitution C T intron_variant SKCA-BR 18 45695636 45695636 single base substitution C T upstream_gene_variant SKCA-BR 18 45696143 45696143 insertion of <=200bp - CT intron_variant SKCA-BR 18 45696143 45696143 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 18 45696150 45696150 insertion of <=200bp - TC intron_variant SKCA-BR 18 45696150 45696150 insertion of <=200bp - TC upstream_gene_variant SKCA-BR 18 45696998 45696998 single base substitution T A intron_variant SKCA-BR 18 45697204 45697204 single base substitution A C intron_variant SKCA-BR 18 45698515 45698515 single base substitution C T intron_variant SKCA-BR 18 45698833 45698833 single base substitution C T intron_variant SKCA-BR 18 45699953 45699953 single base substitution A G intron_variant SKCA-BR 18 45700833 45700833 single base substitution G A intron_variant SKCA-BR 18 45701140 45701140 single base substitution A G intron_variant SKCA-BR 18 45701681 45701681 single base substitution A C intron_variant SKCA-BR 18 45702813 45702813 single base substitution G A intron_variant SKCA-BR 18 45703089 45703089 single base substitution G A intron_variant SKCA-BR 18 45703095 45703095 single base substitution C T intron_variant SKCA-BR 18 45703691 45703691 single base substitution T A intron_variant SKCA-BR 18 45704699 45704699 single base substitution G A intron_variant SKCA-BR 18 45704936 45704936 single base substitution C T intron_variant SKCA-BR 18 45705494 45705494 single base substitution C T intron_variant SKCA-BR 18 45706179 45706179 insertion of <=200bp - TTTCCTTCC intron_variant SKCA-BR 18 45706283 45706283 single base substitution C T intron_variant SKCA-BR 18 45706628 45706628 single base substitution C T intron_variant SKCA-BR 18 45706856 45706856 single base substitution G A intron_variant SKCA-BR 18 45706856 45706856 single base substitution G A splice_region_variant SKCA-BR 18 45708547 45708547 single base substitution A T intron_variant SKCA-BR 18 45710558 45710558 single base substitution G A intron_variant SKCA-BR 18 45714191 45714191 insertion of <=200bp - CAA intron_variant SKCA-BR 18 45714737 45714737 single base substitution G A intron_variant SKCA-BR 18 45715996 45715996 single base substitution C T intron_variant SKCA-BR 18 45717914 45717914 single base substitution G A intron_variant SKCA-BR 18 45718142 45718142 single base substitution G A intron_variant SKCA-BR 18 45721659 45721659 single base substitution C T intron_variant SKCA-BR 18 45721923 45721923 single base substitution C T intron_variant SKCA-BR 18 45722957 45722957 single base substitution C T intron_variant SKCA-BR 18 45723696 45723696 single base substitution A G intron_variant SKCA-BR 18 45724972 45724972 single base substitution C T intron_variant SKCA-BR 18 45726858 45726858 single base substitution G A intron_variant SKCA-BR 18 45727321 45727321 single base substitution G A intron_variant SKCA-BR 18 45727424 45727424 single base substitution C T intron_variant SKCA-BR 18 45727879 45727879 single base substitution C T intron_variant SKCA-BR 18 45727917 45727917 single base substitution T C intron_variant SKCA-BR 18 45731052 45731052 single base substitution G A intron_variant SKCA-BR 18 45731052 45731052 single base substitution G A upstream_gene_variant SKCA-BR 18 45731453 45731453 single base substitution C T intron_variant SKCA-BR 18 45731453 45731453 single base substitution C T upstream_gene_variant SKCA-BR 18 45731912 45731912 single base substitution G A intron_variant SKCA-BR 18 45731912 45731912 single base substitution G A upstream_gene_variant SKCA-BR 18 45732182 45732182 single base substitution C T intron_variant SKCA-BR 18 45732182 45732182 single base substitution C T upstream_gene_variant SKCA-BR 18 45733236 45733236 single base substitution G A intron_variant SKCA-BR 18 45733236 45733236 single base substitution G A upstream_gene_variant SKCA-BR 18 45734114 45734114 single base substitution C T intron_variant SKCA-BR 18 45734114 45734114 single base substitution C T upstream_gene_variant SKCA-BR 18 45734645 45734645 single base substitution G A intron_variant SKCA-BR 18 45734645 45734645 single base substitution G A upstream_gene_variant SKCA-BR 18 45734656 45734656 single base substitution T C intron_variant SKCA-BR 18 45734656 45734656 single base substitution T C upstream_gene_variant SKCA-BR 18 45735556 45735556 single base substitution C T intron_variant SKCA-BR 18 45735738 45735738 single base substitution G A intron_variant SKCA-BR 18 45736868 45736868 single base substitution C T intron_variant SKCA-BR 18 45738512 45738512 single base substitution G A intron_variant SKCA-BR 18 45739166 45739166 single base substitution G A intron_variant SKCA-BR 18 45739381 45739381 single base substitution C T intron_variant SKCA-BR 18 45740141 45740141 single base substitution A T intron_variant SKCA-BR 18 45742138 45742138 single base substitution G A intron_variant SKCA-BR 18 45742397 45742397 single base substitution C T intron_variant SKCA-BR 18 45742939 45742939 single base substitution C T intron_variant SKCA-BR 18 45744697 45744697 single base substitution G A intron_variant SKCA-BR 18 45746394 45746394 single base substitution C T intron_variant SKCA-BR 18 45747522 45747522 single base substitution T C intron_variant SKCA-BR 18 45747576 45747576 single base substitution C T intron_variant SKCA-BR 18 45747867 45747867 single base substitution C T intron_variant SKCA-BR 18 45748255 45748255 single base substitution C T intron_variant SKCA-BR 18 45749960 45749960 single base substitution A G intron_variant SKCA-BR 18 45750442 45750442 single base substitution C T intron_variant SKCA-BR 18 45753139 45753139 single base substitution C T intron_variant SKCA-BR 18 45756344 45756344 single base substitution C T intron_variant SKCA-BR 18 45756350 45756350 single base substitution C T intron_variant SKCA-BR 18 45757799 45757799 single base substitution A C intron_variant SKCA-BR 18 45758205 45758205 single base substitution G A intron_variant SKCA-BR 18 45759274 45759275 deletion of <=200bp AC - intron_variant SKCA-BR 18 45759278 45759278 single base substitution C T intron_variant SKCA-BR 18 45762104 45762104 single base substitution A C intron_variant SKCA-BR 18 45764029 45764029 insertion of <=200bp - CA intron_variant SKCA-BR 18 45765005 45765005 single base substitution C T intron_variant SKCA-BR 18 45765299 45765299 single base substitution G A intron_variant SKCA-BR 18 45765537 45765537 single base substitution C T intron_variant SKCA-BR 18 45766219 45766219 single base substitution G A intron_variant SKCA-BR 18 45767020 45767020 single base substitution G A intron_variant SKCA-BR 18 45767197 45767197 single base substitution G A intron_variant SKCA-BR 18 45769636 45769636 single base substitution C A intron_variant SKCA-BR 18 45769796 45769796 single base substitution C T intron_variant SKCA-BR 18 45771450 45771454 deletion of <=200bp AGTGT - intron_variant SKCA-BR 18 45771461 45771461 insertion of <=200bp - GTATATATATATATA intron_variant SKCA-BR 18 45771461 45771461 insertion of <=200bp - GTATATATATATATATATATATA intron_variant SKCA-BR 18 45771474 45771478 deletion of <=200bp TACAC - intron_variant SKCA-BR 18 45772077 45772077 single base substitution G A intron_variant SKCA-BR 18 45773405 45773405 single base substitution T C intron_variant SKCA-BR 18 45774015 45774015 single base substitution T C intron_variant SKCA-BR 18 45777720 45777720 single base substitution G A intron_variant SKCA-BR 18 45779609 45779609 single base substitution C T intron_variant SKCA-BR 18 45779808 45779808 single base substitution G A intron_variant SKCA-BR 18 45779908 45779908 single base substitution G A intron_variant SKCA-BR 18 45780220 45780220 single base substitution C T intron_variant SKCA-BR 18 45780501 45780501 single base substitution C T intron_variant SKCA-BR 18 45780811 45780811 single base substitution C T intron_variant SKCA-BR 18 45781803 45781803 single base substitution T G intron_variant SKCA-BR 18 45782252 45782252 single base substitution C T intron_variant SKCA-BR 18 45782832 45782832 single base substitution C T intron_variant SKCA-BR 18 45783550 45783550 single base substitution G A intron_variant SKCA-BR 18 45784178 45784178 single base substitution A G intron_variant SKCA-BR 18 45784705 45784705 single base substitution C T intron_variant SKCA-BR 18 45785161 45785161 insertion of <=200bp - CAGGCGCACACCACCTG intron_variant SKCA-BR 18 45785584 45785584 single base substitution G A intron_variant SKCA-BR 18 45786167 45786167 single base substitution C T intron_variant SKCA-BR 18 45786370 45786370 single base substitution C G intron_variant SKCA-BR 18 45786371 45786371 single base substitution C T intron_variant SKCA-BR 18 45786703 45786703 single base substitution C T intron_variant SKCA-BR 18 45787261 45787261 single base substitution C T intron_variant SKCA-BR 18 45787697 45787697 single base substitution C T intron_variant SKCA-BR 18 45787939 45787939 single base substitution C T intron_variant SKCA-BR 18 45788490 45788490 single base substitution C T intron_variant SKCA-BR 18 45788615 45788615 single base substitution C T intron_variant SKCA-BR 18 45789416 45789416 single base substitution C T intron_variant SKCA-BR 18 45794956 45794956 single base substitution G A intron_variant SKCA-BR 18 45794970 45794970 single base substitution G C intron_variant SKCA-BR 18 45795765 45795765 single base substitution C T intron_variant SKCA-BR 18 45796533 45796533 single base substitution T C intron_variant SKCA-BR 18 45797728 45797728 single base substitution C T intron_variant SKCA-BR 18 45798707 45798707 single base substitution G A intron_variant SKCA-BR 18 45798827 45798827 single base substitution G A intron_variant SKCA-BR 18 45799290 45799290 single base substitution G A intron_variant SKCA-BR 18 45799502 45799502 single base substitution A T intron_variant SKCA-BR 18 45799503 45799503 single base substitution G A intron_variant SKCA-BR 18 45799507 45799507 single base substitution G A intron_variant SKCA-BR 18 45799640 45799640 single base substitution A G intron_variant SKCA-BR 18 45803517 45803517 single base substitution G A intron_variant SKCA-BR 18 45803582 45803582 single base substitution C T intron_variant SKCA-BR 18 45804040 45804040 single base substitution G A intron_variant SKCA-BR 18 45805314 45805314 insertion of <=200bp - GT intron_variant SKCA-BR 18 45807438 45807438 single base substitution T A intron_variant SKCA-BR 18 45808304 45808304 single base substitution G C intron_variant SKCA-BR 18 45809518 45809518 single base substitution T A intron_variant SKCA-BR 18 45810040 45810040 single base substitution C T intron_variant SKCA-BR 18 45810602 45810602 single base substitution G A intron_variant SKCA-BR 18 45810816 45810816 single base substitution G A intron_variant SKCA-BR 18 45811181 45811187 deletion of <=200bp AACAGAG - intron_variant SKCA-BR 18 45811182 45811185 deletion of <=200bp ACAG - intron_variant SKCA-BR 18 45812176 45812176 single base substitution C T intron_variant SKCA-BR 18 45812386 45812386 single base substitution C T intron_variant SKCA-BR 18 45812689 45812689 single base substitution G A intron_variant SKCA-BR 18 45812746 45812746 single base substitution C T intron_variant SKCA-BR 18 45812769 45812769 single base substitution G A intron_variant SKCA-BR 18 45813192 45813192 single base substitution G A intron_variant SKCA-BR 18 45814864 45814864 insertion of <=200bp - CA intron_variant SKCA-BR 18 45818089 45818089 single base substitution C T intron_variant SKCA-BR 18 45818322 45818322 single base substitution A C intron_variant SKCA-BR 18 45819787 45819787 single base substitution T C intron_variant SKCA-BR 18 45822438 45822438 single base substitution C T intron_variant SKCA-BR 18 45824650 45824650 insertion of <=200bp - CA intron_variant SKCA-BR 18 45825578 45825578 single base substitution A G intron_variant SKCA-BR 18 45825647 45825647 single base substitution G A intron_variant SKCA-BR 18 45829667 45829667 single base substitution C T intron_variant SKCA-BR 18 45829695 45829695 single base substitution C T intron_variant SKCA-BR 18 45829751 45829751 single base substitution G A intron_variant SKCA-BR 18 45830353 45830353 single base substitution G A intron_variant SKCA-BR 18 45830606 45830606 single base substitution C T intron_variant SKCA-BR 18 45831432 45831432 single base substitution G C intron_variant SKCA-BR 18 45831706 45831706 single base substitution G A intron_variant SKCA-BR 18 45832353 45832353 single base substitution A C intron_variant SKCA-BR 18 45833448 45833448 single base substitution C T intron_variant SKCA-BR 18 45833534 45833534 single base substitution G A intron_variant SKCA-BR 18 45835381 45835381 single base substitution C T intron_variant SKCA-BR 18 45836696 45836696 single base substitution G C intron_variant SKCA-BR 18 45837473 45837473 single base substitution A C intron_variant SKCA-BR 18 45837687 45837687 single base substitution T G intron_variant SKCA-BR 18 45839805 45839805 single base substitution G A intron_variant SKCA-BR 18 45839891 45839891 single base substitution T C intron_variant SKCA-BR 18 45841113 45841113 single base substitution A C intron_variant SKCA-BR 18 45847568 45847568 single base substitution G A intron_variant SKCA-BR 18 45849776 45849776 single base substitution G A intron_variant SKCA-BR 18 45850050 45850050 single base substitution C T intron_variant SKCA-BR 18 45856427 45856427 single base substitution C T intron_variant SKCA-BR 18 45856586 45856586 single base substitution C T intron_variant SKCA-BR 18 45863151 45863151 single base substitution G A intron_variant SKCA-BR 18 45863750 45863750 single base substitution C T intron_variant SKCA-BR 18 45864468 45864468 single base substitution T C intron_variant SKCA-BR 18 45865282 45865282 insertion of <=200bp - TG intron_variant SKCA-BR 18 45865282 45865282 insertion of <=200bp - TG upstream_gene_variant SKCA-BR 18 45865285 45865285 single base substitution G A intron_variant SKCA-BR 18 45865285 45865285 single base substitution G A upstream_gene_variant SKCA-BR 18 45868598 45868598 single base substitution G A intron_variant SKCA-BR 18 45868598 45868598 single base substitution G A upstream_gene_variant SKCA-BR 18 45870022 45870022 single base substitution C T intron_variant SKCA-BR 18 45870513 45870513 single base substitution C T intron_variant SKCA-BR 18 45871275 45871275 single base substitution C T intron_variant SKCA-BR 18 45871672 45871672 single base substitution C T intron_variant SKCA-BR 18 45871682 45871682 single base substitution G A intron_variant SKCA-BR 18 45873498 45873498 insertion of <=200bp - TG intron_variant SKCA-BR 18 45873499 45873499 single base substitution T G intron_variant SKCA-BR 18 45873503 45873503 single base substitution T G intron_variant SKCA-BR 18 45873532 45873532 single base substitution C T intron_variant SKCA-BR 18 45874807 45874807 single base substitution C T intron_variant SKCA-BR 18 45877560 45877560 single base substitution C T intron_variant SKCA-BR 18 45878243 45878243 single base substitution C T intron_variant SKCA-BR 18 45879208 45879208 single base substitution G A intron_variant SKCA-BR 18 45879462 45879462 single base substitution C T intron_variant SKCA-BR 18 45879835 45879835 single base substitution C T intron_variant SKCA-BR 18 45880539 45880539 single base substitution G A intron_variant SKCA-BR 18 45880794 45880794 single base substitution G A intron_variant SKCA-BR 18 45880867 45880867 single base substitution C T intron_variant SKCA-BR 18 45881511 45881511 single base substitution C T intron_variant SKCA-BR 18 45881920 45881920 single base substitution C T intron_variant SKCA-BR 18 45882625 45882625 single base substitution G A intron_variant SKCA-BR 18 45883109 45883109 single base substitution C T intron_variant SKCA-BR 18 45883618 45883618 single base substitution G A intron_variant SKCA-BR 18 45884497 45884497 single base substitution G A intron_variant SKCA-BR 18 45884498 45884498 single base substitution G A intron_variant SKCA-BR 18 45884815 45884815 single base substitution C T intron_variant SKCA-BR 18 45885378 45885378 single base substitution C T intron_variant SKCA-BR 18 45885622 45885622 single base substitution C T intron_variant SKCA-BR 18 45887328 45887328 single base substitution T A intron_variant SKCA-BR 18 45887519 45887519 single base substitution C T intron_variant SKCA-BR 18 45889072 45889072 single base substitution C T intron_variant SKCA-BR 18 45890889 45890889 single base substitution C T intron_variant SKCA-BR 18 45891077 45891077 single base substitution C T intron_variant SKCA-BR 18 45891259 45891259 single base substitution G A intron_variant SKCA-BR 18 45892604 45892604 single base substitution G A intron_variant SKCA-BR 18 45893402 45893402 single base substitution C T intron_variant SKCA-BR 18 45893501 45893501 single base substitution G A intron_variant SKCA-BR 18 45893720 45893720 single base substitution T C intron_variant SKCA-BR 18 45893744 45893744 single base substitution A T intron_variant SKCA-BR 18 45894676 45894676 single base substitution T A intron_variant SKCA-BR 18 45895223 45895223 single base substitution C T intron_variant SKCA-BR 18 45896027 45896027 single base substitution G A intron_variant SKCA-BR 18 45896658 45896658 single base substitution G A intron_variant SKCA-BR 18 45898954 45898954 single base substitution T C intron_variant SKCA-BR 18 45900868 45900868 single base substitution C T intron_variant SKCA-BR 18 45901159 45901159 single base substitution G A intron_variant SKCA-BR 18 45901853 45901853 single base substitution C T intron_variant SKCA-BR 18 45902230 45902230 single base substitution G A intron_variant SKCA-BR 18 45902230 45902230 single base substitution G A upstream_gene_variant SKCA-BR 18 45903684 45903684 single base substitution G A intron_variant SKCA-BR 18 45903684 45903684 single base substitution G A upstream_gene_variant SKCA-BR 18 45904079 45904079 single base substitution C T intron_variant SKCA-BR 18 45904079 45904079 single base substitution C T upstream_gene_variant SKCA-BR 18 45904344 45904344 single base substitution A C intron_variant SKCA-BR 18 45904344 45904344 single base substitution A C upstream_gene_variant SKCA-BR 18 45906180 45906180 single base substitution G A intron_variant SKCA-BR 18 45906180 45906180 single base substitution G A upstream_gene_variant SKCA-BR 18 45906613 45906613 single base substitution G T intron_variant SKCA-BR 18 45906613 45906613 single base substitution G T upstream_gene_variant SKCA-BR 18 45907101 45907101 single base substitution G A intron_variant SKCA-BR 18 45907644 45907644 single base substitution G A intron_variant SKCA-BR 18 45908433 45908433 single base substitution G A intron_variant SKCA-BR 18 45909856 45909856 single base substitution C T intron_variant SKCA-BR 18 45914261 45914261 single base substitution G A intron_variant SKCA-BR 18 45914696 45914696 single base substitution C T intron_variant SKCA-BR 18 45915599 45915613 deletion of <=200bp CTCTCTCTCGTGTGT - intron_variant SKCA-BR 18 45915601 45915613 deletion of <=200bp CTCTCTCGTGTGT - intron_variant SKCA-BR 18 45915832 45915835 deletion of <=200bp ATTT - intron_variant SKCA-BR 18 45916151 45916151 single base substitution C T intron_variant SKCA-BR 18 45918313 45918313 single base substitution C T intron_variant SKCA-BR 18 45918338 45918338 single base substitution C T intron_variant SKCA-BR 18 45919598 45919598 single base substitution C T intron_variant SKCA-BR 18 45920532 45920532 single base substitution C T intron_variant SKCA-BR 18 45920656 45920656 single base substitution G C intron_variant SKCA-BR 18 45921509 45921509 single base substitution C T intron_variant SKCA-BR 18 45921891 45921891 single base substitution G A intron_variant SKCA-BR 18 45923760 45923760 single base substitution A C intron_variant SKCA-BR 18 45926338 45926338 single base substitution C T intron_variant SKCA-BR 18 45926821 45926821 single base substitution G A intron_variant SKCA-BR 18 45927437 45927437 single base substitution G A intron_variant SKCA-BR 18 45928146 45928146 single base substitution C T intron_variant SKCA-BR 18 45931592 45931592 single base substitution C T intron_variant SKCA-BR 18 45932107 45932107 single base substitution T A intron_variant SKCA-BR 18 45933474 45933474 single base substitution T C intron_variant SKCA-BR 18 45933908 45933908 single base substitution C A intron_variant SKCA-BR 18 45935953 45935953 single base substitution T C intron_variant SKCA-BR 18 45935953 45935953 single base substitution T C upstream_gene_variant SKCA-BR 18 45936057 45936057 single base substitution C G intron_variant SKCA-BR 18 45936057 45936057 single base substitution C G upstream_gene_variant SKCA-BR 18 45936379 45936379 single base substitution A C intron_variant SKCA-BR 18 45936379 45936379 single base substitution A C upstream_gene_variant SKCA-BR 18 45936847 45936847 single base substitution C T intron_variant SKCA-BR 18 45936847 45936847 single base substitution C T upstream_gene_variant SKCA-BR 18 45941153 45941153 single base substitution C T upstream_gene_variant SKCA-BR 18 45941317 45941317 single base substitution C T upstream_gene_variant SKCA-BR 18 45941346 45941346 single base substitution C A upstream_gene_variant SKCA-BR 18 45941751 45941751 single base substitution A C upstream_gene_variant SKCM-US 18 45555705 45555705 deletion of <=200bp C - frameshift_variant A596 SKCM-US 18 45555767 45555767 single base substitution G A missense_variant A575V 1724C>T SKCM-US 18 45555787 45555787 single base substitution C T synonymous_variant R568R 1704G>A SKCM-US 18 45555814 45555814 single base substitution G A synonymous_variant F559F 1677C>T SKCM-US 18 45555832 45555832 single base substitution C T synonymous_variant E553E 1659G>A SKCM-US 18 45555835 45555835 single base substitution C T synonymous_variant E552E 1656G>A SKCM-US 18 45556063 45556063 single base substitution C T synonymous_variant R476R 1428G>A SKCM-US 18 45556191 45556191 single base substitution C T missense_variant D434N 1300G>A SKCM-US 18 45556204 45556204 single base substitution G A synonymous_variant F429F 1287C>T SKCM-US 18 45556242 45556242 single base substitution C T missense_variant E417K 1249G>A SKCM-US 18 45566348 45566348 single base substitution C T downstream_gene_variant SKCM-US 18 45566348 45566348 single base substitution C T synonymous_variant G377G 1131G>A SKCM-US 18 45566434 45566434 single base substitution G A downstream_gene_variant SKCM-US 18 45566434 45566434 single base substitution G A missense_variant P349S 1045C>T SKCM-US 18 45566491 45566491 single base substitution C T downstream_gene_variant SKCM-US 18 45566491 45566491 single base substitution C T missense_variant D330N 988G>A SKCM-US 18 45566511 45566511 single base substitution C T downstream_gene_variant SKCM-US 18 45566511 45566511 single base substitution C T missense_variant G323E 968G>A SKCM-US 18 45566546 45566546 single base substitution C T downstream_gene_variant SKCM-US 18 45566546 45566546 single base substitution C T synonymous_variant K311K 933G>A SKCM-US 18 45566602 45566602 single base substitution C T downstream_gene_variant SKCM-US 18 45566602 45566602 single base substitution C T missense_variant E293K 877G>A SKCM-US 18 45566609 45566609 single base substitution C T downstream_gene_variant SKCM-US 18 45566609 45566609 single base substitution C T synonymous_variant K290K 870G>A SKCM-US 18 45566726 45566726 single base substitution G A downstream_gene_variant SKCM-US 18 45566726 45566726 single base substitution G A synonymous_variant F251F 753C>T SKCM-US 18 45566737 45566737 single base substitution A G downstream_gene_variant SKCM-US 18 45566737 45566737 single base substitution A G synonymous_variant L248L 742T>C SKCM-US 18 45566752 45566752 single base substitution C T downstream_gene_variant SKCM-US 18 45566752 45566752 single base substitution C T missense_variant D243N 727G>A SKCM-US 18 45566762 45566762 single base substitution G A downstream_gene_variant SKCM-US 18 45566762 45566762 single base substitution G A synonymous_variant A239A 717C>T SKCM-US 18 45566849 45566849 single base substitution G A downstream_gene_variant SKCM-US 18 45566849 45566849 single base substitution G A synonymous_variant S210S 630C>T SKCM-US 18 45566864 45566864 single base substitution C T downstream_gene_variant SKCM-US 18 45566864 45566864 single base substitution C T synonymous_variant R205R 615G>A SKCM-US 18 45566986 45566986 single base substitution C T downstream_gene_variant SKCM-US 18 45566986 45566986 single base substitution C T missense_variant D165N 493G>A SKCM-US 18 45567061 45567061 single base substitution C T downstream_gene_variant SKCM-US 18 45567061 45567061 single base substitution C T missense_variant E140K 418G>A SKCM-US 18 45567077 45567077 single base substitution C T downstream_gene_variant SKCM-US 18 45567077 45567077 single base substitution C T synonymous_variant G134G 402G>A SKCM-US 18 45567095 45567095 single base substitution C T downstream_gene_variant SKCM-US 18 45567095 45567095 single base substitution C T synonymous_variant E128E 384G>A SKCM-US 18 45567101 45567101 single base substitution G A downstream_gene_variant SKCM-US 18 45567101 45567101 single base substitution G A synonymous_variant I126I 378C>T SKCM-US 18 45567106 45567106 single base substitution C T downstream_gene_variant SKCM-US 18 45567106 45567106 single base substitution C T missense_variant E125K 373G>A SKCM-US 18 45567206 45567206 single base substitution G A downstream_gene_variant SKCM-US 18 45567206 45567206 single base substitution G A synonymous_variant F91F 273C>T SKCM-US 18 45567247 45567247 single base substitution C T downstream_gene_variant SKCM-US 18 45567247 45567247 single base substitution C T missense_variant D78N 232G>A SKCM-US 18 45567248 45567248 single base substitution G A downstream_gene_variant SKCM-US 18 45567248 45567248 single base substitution G A synonymous_variant I77I 231C>T SKCM-US 18 45567330 45567330 single base substitution G A downstream_gene_variant SKCM-US 18 45567330 45567330 single base substitution G A missense_variant S50F 149C>T SKCM-US 18 45567391 45567391 single base substitution C T downstream_gene_variant SKCM-US 18 45567391 45567391 single base substitution C T missense_variant D30N 88G>A SKCM-US 18 45567438 45567438 single base substitution G A missense_variant P14L 41C>T SKCM-US 18 45567440 45567440 single base substitution G A synonymous_variant F13F 39C>T STAD-US 18 45555704 45555704 single base substitution G A missense_variant A596V 1787C>T STAD-US 18 45555955 45555955 single base substitution G A synonymous_variant G512G 1536C>T STAD-US 18 45566519 45566519 insertion of <=200bp - C downstream_gene_variant STAD-US 18 45566519 45566519 insertion of <=200bp - C frameshift_variant G320G? STAD-US 18 45566686 45566686 single base substitution C T downstream_gene_variant STAD-US 18 45566686 45566686 single base substitution C T missense_variant G265S 793G>A STAD-US 18 45566726 45566726 single base substitution G A downstream_gene_variant STAD-US 18 45566726 45566726 single base substitution G A synonymous_variant F251F 753C>T STAD-US 18 45566744 45566744 single base substitution T C downstream_gene_variant STAD-US 18 45566744 45566744 single base substitution T C synonymous_variant R245R 735A>G STAD-US 18 45566902 45566902 single base substitution C G downstream_gene_variant STAD-US 18 45566902 45566902 single base substitution C G missense_variant D193H 577G>C STAD-US 18 45567019 45567019 single base substitution C T downstream_gene_variant STAD-US 18 45567019 45567019 single base substitution C T missense_variant E154K 460G>A STAD-US 18 45567049 45567049 single base substitution C T downstream_gene_variant STAD-US 18 45567049 45567049 single base substitution C T missense_variant D144N 430G>A STAD-US 18 45567053 45567053 single base substitution A G downstream_gene_variant STAD-US 18 45567053 45567053 single base substitution A G synonymous_variant D142D 426T>C STAD-US 18 45567076 45567076 deletion of <=200bp C - downstream_gene_variant STAD-US 18 45567076 45567076 deletion of <=200bp C - frameshift_variant E135 STAD-US 18 45567076 45567076 insertion of <=200bp - C downstream_gene_variant STAD-US 18 45567076 45567076 insertion of <=200bp - C frameshift_variant E135G? STAD-US 18 45567085 45567085 deletion of <=200bp C - downstream_gene_variant STAD-US 18 45567085 45567085 deletion of <=200bp C - frameshift_variant D132 STAD-US 18 45567233 45567233 single base substitution A G downstream_gene_variant STAD-US 18 45567233 45567233 single base substitution A G synonymous_variant P82P 246T>C STAD-US 18 45567392 45567392 single base substitution G A downstream_gene_variant STAD-US 18 45567392 45567392 single base substitution G A synonymous_variant H29H 87C>T THCA-SA 18 45566276 45566276 single base substitution G A downstream_gene_variant THCA-SA 18 45566276 45566276 single base substitution G A synonymous_variant F401F 1203C>T THCA-SA 18 45566568 45566573 deletion of <=200bp GGTGGC - disruptive_inframe_deletion PPP302P THCA-SA 18 45566568 45566573 deletion of <=200bp GGTGGC - downstream_gene_variant THCA-SA 18 45566573 45566573 single base substitution C T downstream_gene_variant THCA-SA 18 45566573 45566573 single base substitution C T synonymous_variant P302P 906G>A UCEC-US 18 45555734 45555734 single base substitution C T missense_variant R586Q 1757G>A UCEC-US 18 45556117 45556117 single base substitution C T synonymous_variant T458T 1374G>A UCEC-US 18 45556222 45556222 single base substitution G T synonymous_variant I423I 1269C>A UCEC-US 18 45566596 45566596 single base substitution C T downstream_gene_variant UCEC-US 18 45566596 45566596 single base substitution C T missense_variant E295K 883G>A UCEC-US 18 45566677 45566677 single base substitution C T downstream_gene_variant UCEC-US 18 45566677 45566677 single base substitution C T missense_variant A268T 802G>A UCEC-US 18 45566720 45566720 single base substitution C A downstream_gene_variant UCEC-US 18 45566720 45566720 single base substitution C A synonymous_variant P253P 759G>T UCEC-US 18 45566720 45566720 single base substitution C T downstream_gene_variant UCEC-US 18 45566720 45566720 single base substitution C T synonymous_variant P253P 759G>A UCEC-US 18 45566976 45566976 single base substitution G A downstream_gene_variant UCEC-US 18 45566976 45566976 single base substitution G A missense_variant T168M 503C>T UCEC-US 18 45566986 45566986 single base substitution C T downstream_gene_variant UCEC-US 18 45566986 45566986 single base substitution C T missense_variant D165N 493G>A UCEC-US 18 45567083 45567083 single base substitution G A downstream_gene_variant UCEC-US 18 45567083 45567083 single base substitution G A synonymous_variant D132D 396C>T UCEC-US 18 45567151 45567151 single base substitution C T downstream_gene_variant UCEC-US 18 45567151 45567151 single base substitution C T missense_variant A110T 328G>A UCEC-US 18 45567179 45567179 single base substitution G A downstream_gene_variant UCEC-US 18 45567179 45567179 single base substitution G A synonymous_variant T100T 300C>T UCEC-US 18 45567238 45567238 single base substitution G A downstream_gene_variant UCEC-US 18 45567238 45567238 single base substitution G A stop_gained Q81* 241C>T UCEC-US 18 45567247 45567247 single base substitution C T downstream_gene_variant UCEC-US 18 45567247 45567247 single base substitution C T missense_variant D78N 232G>A UCEC-US 18 45567285 45567285 single base substitution G A downstream_gene_variant UCEC-US 18 45567285 45567285 single base substitution G A missense_variant A65V 194C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D1-A103-01 COSM988702 c.396C>T p.D132D Substitution - coding silent 18:48040712-48040712 - ME043T COSM228682 c.748C>T p.P250S Substitution - Missense 18:48040360-48040360 - TCGA-EB-A1NK-01 COSM3526103 c.753C>T p.F251F Substitution - coding silent 18:48040355-48040355 - TCGA-BG-A0YV-01 COSM988693 c.1385A>C p.H462P Substitution - Missense 18:48029735-48029735 - ESCC-152T COSM3937755 c.451G>C p.E151Q Substitution - Missense 18:48040657-48040657 - BD236T COSM4742222 c.1336C>T p.R446W Substitution - Missense 18:48029784-48029784 - TCGA-CG-5723-01 COSM3526103 c.753C>T p.F251F Substitution - coding silent 18:48040355-48040355 - LC_C34 COSM1189689 c.1186A>G p.I396V Substitution - Missense 18:48039922-48039922 - BD72T COSM5513402 c.1235G>A p.R412Q Substitution - Missense 18:48029885-48029885 - TCGA-AN-A0FW-01 COSM5113532 c.960_961insG p.P321fs*141 Insertion - Frameshift 18:48040147-48040148 - HCC60 COSM1611260 c.715G>T p.A239S Substitution - Missense 18:48040393-48040393 - SWE-16 COSM1178944 c.988G>A p.D330N Substitution - Missense 18:48040120-48040120 - TCGA-ER-A194-01 COSM3526114 c.39C>T p.F13F Substitution - coding silent 18:48041069-48041069 - ccRCC-60 COSM1665067 c.879G>T p.E293D Substitution - Missense 18:48040229-48040229 - TCGA-EE-A29D-06 COSM3526101 c.933G>A p.K311K Substitution - coding silent 18:48040175-48040175 - TCGA-GM-A3XN-01 COSM78797 c.83G>A p.R28Q Substitution - Missense 18:48041025-48041025 - TCGA-D9-A1JW-06 COSM3526102 c.877G>A p.E293K Substitution - Missense 18:48040231-48040231 - Gp5D COSM1388915 c.403delG p.E135fs*87 Deletion - Frameshift 18:48040705-48040705 - TCGA-DM-A28G-01 COSM1388908 c.1426C>T p.R476W Substitution - Missense 18:48029694-48029694 - LUAD-CHTN-MAD06-00668 COSM359211 c.954G>T p.P318P Substitution - coding silent 18:48040154-48040154 - TCGA-ER-A19D-06 COSM988701 c.493G>A p.D165N Substitution - Missense 18:48040615-48040615 - PD6684a COSM5364513 c.1526delC p.P509fs*34 Deletion - Frameshift 18:48029594-48029594 - TCGA-EE-A29M-06 COSM3526093 c.1724C>T p.A575V Substitution - Missense 18:48029396-48029396 - I2L-P19Tb-Tumor-Organoid COSM1388915 c.403delG p.E135fs*87 Deletion - Frameshift 18:48040705-48040705 - C086 COSM5541934 c.681C>T p.I227I Substitution - coding silent 18:48040427-48040427 - TCGA-EE-A3AG-06 COSM3526103 c.753C>T p.F251F Substitution - coding silent 18:48040355-48040355 - TCGA-D5-6928-01 COSM1388911 c.807G>A p.Q269Q Substitution - coding silent 18:48040301-48040301 - RDES COSM4580431 c.1545C>T p.G515G Substitution - coding silent 18:48029575-48029575 - TCGA-D3-A51G-06 COSM3526095 c.1659G>A p.E553E Substitution - coding silent 18:48029461-48029461 - TCGA-06-0185-01 COSM2150501 c.27T>C p.I9I Substitution - coding silent 18:48041081-48041081 - T3152 COSM1388910 c.960delG p.P321fs*18 Deletion - Frameshift 18:48040148-48040148 - TCGA-AU-6004-01 COSM1388913 c.476_477insGGA p.E162_D163insE Insertion - In frame 18:48040631-48040632 - CSCC-17-T COSM4502695 c.61C>T p.L21L Substitution - coding silent 18:48041047-48041047 - TCGA-A5-A0R9-01 COSM988693 c.1385A>C p.H462P Substitution - Missense 18:48029735-48029735 - TCGA-FW-A3R5-06 COSM3891085 c.273C>T p.F91F Substitution - coding silent 18:48040835-48040835 - TCGA-AA-3663-01 COSM3756152 c.1662A>G p.T554T Substitution - coding silent 18:48029458-48029458 - TCGA-G4-6586-01 COSM1388910 c.960delG p.P321fs*18 Deletion - Frameshift 18:48040148-48040148 - 12924 COSM5614568 c.744G>T p.L248F Substitution - Missense 18:48040364-48040364 - 40M COSM5587020 c.978G>A p.K326K Substitution - coding silent 18:48040130-48040130 - C008 COSM4072382 c.793G>A p.G265S Substitution - Missense 18:48040315-48040315 - EGC15 COSM5056058 c.92G>A p.G31D Substitution - Missense 18:48041016-48041016 - TCGA-GN-A266-06 COSM3526110 c.384G>A p.E128E Substitution - coding silent 18:48040724-48040724 - TCGA-AP-A056-01 COSM988709 c.194C>T p.A65V Substitution - Missense 18:48040914-48040914 - C086 COSM2878673 c.487G>A p.D163N Substitution - Missense 18:48040621-48040621 - ZZUFHECRKL-G071T COSM5438937 c.663G>T p.V221V Substitution - coding silent 18:48040445-48040445 - TCGA-FR-A3YO-06 COSM3526111 c.231C>T p.I77I Substitution - coding silent 18:48040877-48040877 - YULONE COSM5388175 c.1142G>A p.R381Q Substitution - Missense 18:48039966-48039966 - RDES COSM4580433 c.961C>A p.P321T Substitution - Missense 18:48040147-48040147 - Pat_41_A COSM1270739 c.1394G>A p.R465H Substitution - Missense 18:48029726-48029726 - TCGA-FS-A1ZD-06 COSM3526099 c.1249G>A p.E417K Substitution - Missense 18:48029871-48029871 - TCGA-BR-8361-01 COSM1388914 c.426T>C p.D142D Substitution - coding silent 18:48040682-48040682 - TCGA-EE-A3JD-06 COSM4396295 c.378C>T p.I126I Substitution - coding silent 18:48040730-48040730 - S02347 COSM5694152 c.1550A>T p.H517L Substitution - Missense 18:48029570-48029570 - sysucc-274T COSM5476004 c.830G>A p.S277N Substitution - Missense 18:48040278-48040278 - C086 COSM2878669 c.968G>A p.G323E Substitution - Missense 18:48040140-48040140 - App2312 COSM4168374 c.18_19insAT p.E7fs*63 Insertion - Frameshift 18:48041089-48041090 - TCGA-CG-4449-01 COSM4072384 c.577G>C p.D193H Substitution - Missense 18:48040531-48040531 - Gp2D COSM4627596 c.925T>C p.F309L Substitution - Missense 18:48040183-48040183 - T3225 COSM988705 c.300C>T p.T100T Substitution - coding silent 18:48040808-48040808 - ESCC_BICR_060T COSM5434958 c.1657G>T p.E553* Substitution - Nonsense 18:48029463-48029463 - BN24T COSM1388915 c.403delG p.E135fs*87 Deletion - Frameshift 18:48040705-48040705 - sysucc-1317T COSM5449136 c.1743C>T p.N581N Substitution - coding silent 18:48029377-48029377 - MN-1144 COSM1578937 c.358G>A p.V120M Substitution - Missense 18:48040750-48040750 - TCGA-BR-6452-01 COSM4072387 c.87C>T p.H29H Substitution - coding silent 18:48041021-48041021 - BD199T COSM3717921 c.1672C>G p.L558V Substitution - Missense 18:48029448-48029448 - TCGA-BG-A0M2-01 COSM988708 c.195C>T p.A65A Substitution - coding silent 18:48040913-48040913 - TCGA-D1-A103-01 COSM988698 c.759G>A p.P253P Substitution - coding silent 18:48040349-48040349 - TCGA-AP-A0LT-01 COSM988705 c.300C>T p.T100T Substitution - coding silent 18:48040808-48040808 - COLO205 COSM1680350 c.74A>T p.N25I Substitution - Missense 18:48041034-48041034 - COLO-205 COSM1680350 c.74A>T p.N25I Substitution - Missense 18:48041034-48041034 - TCGA-BG-A0YV-01 COSM988707 c.232G>A p.D78N Substitution - Missense 18:48040876-48040876 - T3225 COSM4742222 c.1336C>T p.R446W Substitution - Missense 18:48029784-48029784 - B22 COSM1750531 c.130G>C p.E44Q Substitution - Missense 18:48040978-48040978 - YUDUTY COSM1711318 c.193G>A p.A65T Substitution - Missense 18:48040915-48040915 - pfg008T COSM1640988 c.9T>C p.N3N Substitution - coding silent 18:48041099-48041099 - TCGA-C5-A1BN-01 COSM4837244 c.1529C>T p.A510V Substitution - Missense 18:48029591-48029591 - WT046 COSM5352096 c.959G>T p.G320V Substitution - Missense 18:48040149-48040149 - Pat_76_B COSM5854214 c.615_616GG>AA p.D206N Substitution - Missense 18:48040492-48040493 - TCGA-AM-5820-01 COSM1388916 c.394delG p.D132fs*90 Deletion - Frameshift 18:48040714-48040714 - TCGA-AP-A059-01 COSM988696 c.883G>A p.E295K Substitution - Missense 18:48040225-48040225 - GC5_T COSM148432 c.287C>T p.T96M Substitution - Missense 18:48040821-48040821 - TCGA-EE-A29E-06 COSM3526111 c.231C>T p.I77I Substitution - coding silent 18:48040877-48040877 - T3118 COSM4742220 c.1707C>T p.N569N Substitution - coding silent 18:48029413-48029413 - YUKLAB COSM1711316 c.616G>A p.D206N Substitution - Missense 18:48040492-48040492 - 2521243 COSM5887015 c.589G>A p.E197K Substitution - Missense 18:48040519-48040519 - TCGA-25-1324-01 COSM78797 c.83G>A p.R28Q Substitution - Missense 18:48041025-48041025 - BD6T COSM5499329 c.429C>T p.D143D Substitution - coding silent 18:48040679-48040679 - SNUH_G16_S1 COSM4000408 c.810G>A p.L270L Substitution - coding silent 18:48040298-48040298 - QC2-07-T2 COSM5652057 c.209G>A p.S70N Substitution - Missense 18:48040899-48040899 - TCGA-ER-A193-06 COSM3526104 c.742T>C p.L248L Substitution - coding silent 18:48040366-48040366 - CT-TC COSM4989653 c.398G>A p.G133E Substitution - Missense 18:48040710-48040710 - YUPROST COSM1711315 c.1162G>A p.G388R Substitution - Missense 18:48039946-48039946 - Gp2D COSM1388915 c.403delG p.E135fs*87 Deletion - Frameshift 18:48040705-48040705 - YUNEKI COSM5388176 c.902C>T p.P301L Substitution - Missense 18:48040206-48040206 - TCGA-FS-A1ZC-06 COSM3526106 c.717C>T p.A239A Substitution - coding silent 18:48040391-48040391 - COLO320-DM COSM4621431 c.660G>T p.G220G Substitution - coding silent 18:48040448-48040448 - TCGA-A2-A0CZ-01 COSM5113532 c.960_961insG p.P321fs*141 Insertion - Frameshift 18:48040147-48040148 - TCGA-CK-5913-01 COSM1388910 c.960delG p.P321fs*18 Deletion - Frameshift 18:48040148-48040148 - 88_T COSM3959228 c.744G>C p.L248F Substitution - Missense 18:48040364-48040364 - TCGA-B7-5816-01 COSM4072386 c.246T>C p.P82P Substitution - coding silent 18:48040862-48040862 - TCGA-AP-A059-01 COSM988704 c.328G>A p.A110T Substitution - Missense 18:48040780-48040780 - I2L-P19Tb-Tumor-Organoid COSM5364513 c.1526delC p.P509fs*34 Deletion - Frameshift 18:48029594-48029594 - sysucc-880T COSM4072387 c.87C>T p.H29H Substitution - coding silent 18:48041021-48041021 - YUFIT COSM5388178 c.469_470GA>AG p.E157R Substitution - Missense 18:48040638-48040639 - Pat_24_A COSM1388910 c.960delG p.P321fs*18 Deletion - Frameshift 18:48040148-48040148 - BD236T COSM4580431 c.1545C>T p.G515G Substitution - coding silent 18:48029575-48029575 - 61 COSM5741254 c.1521G>A p.M507I Substitution - Missense 18:48029599-48029599 - TCGA-AX-A0J1-01 COSM988701 c.493G>A p.D165N Substitution - Missense 18:48040615-48040615 - RK308_C01 COSM2878679 c.459C>G p.D153E Substitution - Missense 18:48040649-48040649 - ATL044 COSM5706752 c.8delA p.N3fs*66 Deletion - Frameshift 18:48041100-48041100 - 587226 COSM1233173 c.611C>A p.P204H Substitution - Missense 18:48040497-48040497 - TCGA-CD-A4MG-01 COSM4072385 c.430G>A p.D144N Substitution - Missense 18:48040678-48040678 - TCGA-F4-6459-01 COSM1388912 c.805C>T p.Q269* Substitution - Nonsense 18:48040303-48040303 - TCGA-EE-A29E-06 COSM3526097 c.1428G>A p.R476R Substitution - coding silent 18:48029692-48029692 - BN50 COSM1611260 c.715G>T p.A239S Substitution - Missense 18:48040393-48040393 - TCGA-CK-5913-01 COSM1388916 c.394delG p.D132fs*90 Deletion - Frameshift 18:48040714-48040714 - TCGA-D9-A1JW-06 COSM3526109 c.402G>A p.G134G Substitution - coding silent 18:48040706-48040706 - TCGA-AA-3852-01 COSM271905 c.460G>A p.E154K Substitution - Missense 18:48040648-48040648 - pfg008T COSM1388915 c.403delG p.E135fs*87 Deletion - Frameshift 18:48040705-48040705 - TCGA-FW-A3R5-06 COSM2878669 c.968G>A p.G323E Substitution - Missense 18:48040140-48040140 - Pat_76_A COSM5854214 c.615_616GG>AA p.D206N Substitution - Missense 18:48040492-48040493 - PTC_509 COSM5960460 c.906_911delGCCACC p.P303_P304delPP Deletion - In frame 18:48040197-48040202 - TCGA-CD-A4MG-01 COSM4072383 c.735A>G p.R245R Substitution - coding silent 18:48040373-48040373 - TCGA-BR-8360-01 COSM271905 c.460G>A p.E154K Substitution - Missense 18:48040648-48040648 - TCGA-HU-A4G8-01 COSM4072380 c.1787C>T p.A596V Substitution - Missense 18:48029333-48029333 - TCGA-D1-A101-01 COSM988703 c.340C>T p.L114L Substitution - coding silent 18:48040768-48040768 - TCGA-BR-7851-01 COSM4072382 c.793G>A p.G265S Substitution - Missense 18:48040315-48040315 - YUFOLD COSM1711317 c.403G>A p.E135K Substitution - Missense 18:48040705-48040705 - TCGA-FW-A3R5-06 COSM3891083 c.1131G>A p.G377G Substitution - coding silent 18:48039977-48039977 - 700T COSM4963759 c.1639C>T p.L547L Substitution - coding silent 18:48029481-48029481 - Pat_44_A COSM271905 c.460G>A p.E154K Substitution - Missense 18:48040648-48040648 - TCGA-D8-A1J8-01 COSM1388916 c.394delG p.D132fs*90 Deletion - Frameshift 18:48040714-48040714 - TCGA-EE-A2GJ-06 COSM3526100 c.1045C>T p.P349S Substitution - Missense 18:48040063-48040063 - SNUH_G47_S1 COSM3680740 c.1451C>G p.A484G Substitution - Missense 18:48029669-48029669 - S01297 COSM5667514 c.1077G>T p.K359N Substitution - Missense 18:48040031-48040031 - C658 COSM4443330 c.1295A>G p.N432S Substitution - Missense 18:48029825-48029825 - TCGA-BF-A1PX-01 COSM4905279 c.615G>A p.R205R Substitution - coding silent 18:48040493-48040493 - 01-P8014 COSM2878678 c.459C>T p.D153D Substitution - coding silent 18:48040649-48040649 - SNUH_G16_S1 COSM3756153 c.1203C>T p.F401F Substitution - coding silent 18:48039905-48039905 - SMS-CTR COSM4989653 c.398G>A p.G133E Substitution - Missense 18:48040710-48040710 - T3182 COSM4742225 c.105C>T p.D35D Substitution - coding silent 18:48041003-48041003 - TCGA-D1-A17B-01 COSM988706 c.241C>T p.Q81* Substitution - Nonsense 18:48040867-48040867 - RKO COSM1388910 c.960delG p.P321fs*18 Deletion - Frameshift 18:48040148-48040148 - TCGA-EE-A3JD-06 COSM4396554 c.870G>A p.K290K Substitution - coding silent 18:48040238-48040238 - BD124T COSM1388910 c.960delG p.P321fs*18 Deletion - Frameshift 18:48040148-48040148 - AOCS-088-3-8 COSM4140092 c.1849G>A p.A617T Substitution - Missense 18:48029271-48029271 - YUTRAIN COSM5388177 c.682G>A p.E228K Substitution - Missense 18:48040426-48040426 - TCGA-E9-A1N5-01 COSM3821522 c.1092G>A p.Q364Q Substitution - coding silent 18:48040016-48040016 - TCGA-FW-A3R5-06 COSM3891082 c.1704G>A p.R568R Substitution - coding silent 18:48029416-48029416 - HCT116 COSM2878660 c.1287C>T p.F429F Substitution - coding silent 18:48029833-48029833 - TCGA-B5-A0JY-01 COSM988699 c.759G>T p.P253P Substitution - coding silent 18:48040349-48040349 - S00935 COSM316645 c.499G>T p.D167Y Substitution - Missense 18:48040609-48040609 - HN_62854 COSM130282 c.1090C>G p.Q364E Substitution - Missense 18:48040018-48040018 - I2L-P7-Tumor-Organoid COSM1388915 c.403delG p.E135fs*87 Deletion - Frameshift 18:48040705-48040705 - TCGA-AP-A059-01 COSM988694 c.1374G>A p.T458T Substitution - coding silent 18:48029746-48029746 - pfg217T COSM4754206 c.505G>A p.E169K Substitution - Missense 18:48040603-48040603 - SNU-175 COSM2878658 c.1332C>T p.G444G Substitution - coding silent 18:48029788-48029788 - LUAD-5V8LT COSM401777 c.456G>A p.E152E Substitution - coding silent 18:48040652-48040652 - PD8969a COSM5182997 c.1578G>A p.P526P Substitution - coding silent 18:48029542-48029542 - WSU-HN13 COSM4601552 c.1417C>T p.R473C Substitution - Missense 18:48029703-48029703 - TCGA-G4-6302-01 COSM3756152 c.1662A>G p.T554T Substitution - coding silent 18:48029458-48029458 - CRC-32T COSM5460679 c.426T>A p.D142E Substitution - Missense 18:48040682-48040682 - CSCC-49-T COSM4458844 c.1100C>T p.P367L Substitution - Missense 18:48040008-48040008 - S02255 COSM5680577 c.304G>T p.G102C Substitution - Missense 18:48040804-48040804 - I2L-P7-Tumor-Organoid COSM1388910 c.960delG p.P321fs*18 Deletion - Frameshift 18:48040148-48040148 - HCT15 COSM1388915 c.403delG p.E135fs*87 Deletion - Frameshift 18:48040705-48040705 - TCGA-FW-A3R5-06 COSM1178944 c.988G>A p.D330N Substitution - Missense 18:48040120-48040120 - XHDG04 COSM4768338 c.490G>A p.D164N Substitution - Missense 18:48040618-48040618 - CCC64T COSM3717921 c.1672C>G p.L558V Substitution - Missense 18:48029448-48029448 - B22-Tumor COSM1750531 c.130G>C p.E44Q Substitution - Missense 18:48040978-48040978 - TCGA-DD-A11C-01 COSM4925710 c.1681C>T p.R561C Substitution - Missense 18:48029439-48029439 - CCC64 COSM3717921 c.1672C>G p.L558V Substitution - Missense 18:48029448-48029448 - LIM2551 COSM4644138 c.1774C>T p.P592S Substitution - Missense 18:48029346-48029346 - 2492724 COSM271905 c.460G>A p.E154K Substitution - Missense 18:48040648-48040648 - TCGA-G2-A3IE-01 COSM1303757 c.456G>C p.E152D Substitution - Missense 18:48040652-48040652 - TCGA-E9-A1N5-01 COSM3821523 c.1091A>C p.Q364P Substitution - Missense 18:48040017-48040017 - 585208 COSM326904 c.754G>T p.A252S Substitution - Missense 18:48040354-48040354 - 6115237 COSM5566126 c.1376G>A p.R459H Substitution - Missense 18:48029744-48029744 - T3116 COSM4742221 c.1646G>A p.R549Q Substitution - Missense 18:48029474-48029474 - TCGA-EE-A185-06 COSM3526098 c.1300G>A p.D434N Substitution - Missense 18:48029820-48029820 - TCGA-AD-6889-01 COSM1388917 c.266T>C p.L89P Substitution - Missense 18:48040842-48040842 - TCGA-AX-A060-01 COSM988700 c.503C>T p.T168M Substitution - Missense 18:48040605-48040605 - NB-3186 COSM1289012 c.1302C>A p.D434E Substitution - Missense 18:48029818-48029818 - TCGA-D5-6928-01 COSM1388909 c.1350C>T p.C450C Substitution - coding silent 18:48029770-48029770 - TCGA-EE-A29H-06 COSM3526096 c.1656G>A p.E552E Substitution - coding silent 18:48029464-48029464 - TCGA-AP-A0LM-01 COSM988692 c.1757G>A p.R586Q Substitution - Missense 18:48029363-48029363 - C0075T COSM4153979 c.1209-6T>C p.? Unknown 18:48029917-48029917 - 2492725 COSM271905 c.460G>A p.E154K Substitution - Missense 18:48040648-48040648 - TCGA-RP-A694-06 COSM4894453 c.41C>T p.P14L Substitution - Missense 18:48041067-48041067 - CSCC-31-T COSM4457359 c.1041C>T p.F347F Substitution - coding silent 18:48040067-48040067 - T3535 COSM4742223 c.1095G>C p.Q365H Substitution - Missense 18:48040013-48040013 - ATL010 COSM5706751 c.1214A>G p.D405G Substitution - Missense 18:48029906-48029906 - TCGA-AP-A059-01 COSM988697 c.802G>A p.A268T Substitution - Missense 18:48040306-48040306 - RKO COSM1388915 c.403delG p.E135fs*87 Deletion - Frameshift 18:48040705-48040705 - YUNEKI COSM5388179 c.19G>A p.E7K Substitution - Missense 18:48041089-48041089 - SNU-C4 COSM4652978 c.1516G>A p.V506M Substitution - Missense 18:48029604-48029604 - LUAD-RT-S01777 COSM382042 c.1300G>T p.D434Y Substitution - Missense 18:48029820-48029820 - TCGA-DK-A3IS-01 COSM1303756 c.1221G>A p.L407L Substitution - coding silent 18:48029899-48029899 - TCGA-AA-3966-01 COSM273485 c.874G>A p.E292K Substitution - Missense 18:48040234-48040234 - RK308_C01 COSM2878658 c.1332C>T p.G444G Substitution - coding silent 18:48029788-48029788 - CHC197T COSM3756153 c.1203C>T p.F401F Substitution - coding silent 18:48039905-48039905 - C086 COSM5541933 c.394G>A p.D132N Substitution - Missense 18:48040714-48040714 - COLO201 COSM1680350 c.74A>T p.N25I Substitution - Missense 18:48041034-48041034 - T3152 COSM1388916 c.394delG p.D132fs*90 Deletion - Frameshift 18:48040714-48040714 - T3118 COSM1388915 c.403delG p.E135fs*87 Deletion - Frameshift 18:48040705-48040705 - S00935 COSM316645 c.499G>T p.D167Y Substitution - Missense 18:48040609-48040609 - C086 COSM5541931 c.1129G>A p.G377R Substitution - Missense 18:48039979-48039979 - TCGA-EE-A182-06 COSM3526108 c.418G>A p.E140K Substitution - Missense 18:48040690-48040690 - TCGA-EK-A3GK-01 COSM4852947 c.463G>A p.E155K Substitution - Missense 18:48040645-48040645 - ESO-0280 COSM1270739 c.1394G>A p.R465H Substitution - Missense 18:48029726-48029726 - XHDG04 COSM2878681 c.409G>A p.D137N Substitution - Missense 18:48040699-48040699 - TCGA-AP-A0LM-01 COSM988695 c.1269C>A p.I423I Substitution - coding silent 18:48029851-48029851 - ESCC_82 COSM5636086 c.1789G>T p.A597S Substitution - Missense 18:48029331-48029331 - TCGA-CZ-5467-01 COSM473874 c.435C>T p.D145D Substitution - coding silent 18:48040673-48040673 - ESCC_17 COSM5625937 c.293C>A p.T98N Substitution - Missense 18:48040815-48040815 - 61 COSM5741255 c.1046C>T p.P349L Substitution - Missense 18:48040062-48040062 - TCGA-FS-A1ZA-06 COSM3526107 c.630C>T p.S210S Substitution - coding silent 18:48040478-48040478 - TCGA-06-6694-01 COSM188820 c.953C>T p.P318L Substitution - Missense 18:48040155-48040155 - TCGA-IH-A3EA-01 COSM988707 c.232G>A p.D78N Substitution - Missense 18:48040876-48040876 - TCGA-D3-A2J8-06 COSM3526112 c.149C>T p.S50F Substitution - Missense 18:48040959-48040959 - TCGA-AX-A0J1-01 COSM988698 c.759G>A p.P253P Substitution - coding silent 18:48040349-48040349 - 2492726 COSM271905 c.460G>A p.E154K Substitution - Missense 18:48040648-48040648 - U2940 COSM5622211 c.169A>C p.K57Q Substitution - Missense 18:48040939-48040939 - BD189T COSM5508473 c.485A>G p.E162G Substitution - Missense 18:48040623-48040623 - TCGA-D3-A2JH-06 COSM3526105 c.727G>A p.D243N Substitution - Missense 18:48040381-48040381 - SWE-50 COSM1180232 c.140C>A p.T47N Substitution - Missense 18:48040968-48040968 - C086 COSM5541932 c.812C>T p.P271L Substitution - Missense 18:48040296-48040296 - HCC60T COSM1611260 c.715G>T p.A239S Substitution - Missense 18:48040393-48040393 - T3118 COSM4742225 c.105C>T p.D35D Substitution - coding silent 18:48041003-48041003 - TCGA-FW-A3R5-06 COSM2878660 c.1287C>T p.F429F Substitution - coding silent 18:48029833-48029833 - ITNET_0700_T COSM4963759 c.1639C>T p.L547L Substitution - coding silent 18:48029481-48029481 - LIM2551 COSM1388916 c.394delG p.D132fs*90 Deletion - Frameshift 18:48040714-48040714 - BN50T COSM1611260 c.715G>T p.A239S Substitution - Missense 18:48040393-48040393 - TCGA-AD-6895-01 COSM1388914 c.426T>C p.D142D Substitution - coding silent 18:48040682-48040682 - LOVO COSM2878680 c.453G>T p.E151D Substitution - Missense 18:48040655-48040655 - PAPNNX COSM4072387 c.87C>T p.H29H Substitution - coding silent 18:48041021-48041021 - HT115 COSM2878655 c.1351G>A p.E451K Substitution - Missense 18:48029769-48029769 - TCGA-FW-A3R5-06 COSM3891084 c.373G>A p.E125K Substitution - Missense 18:48040735-48040735 - TCGA-AM-5820-01 COSM3756153 c.1203C>T p.F401F Substitution - coding silent 18:48039905-48039905 - CHEWS008 COSM4580432 c.981G>A p.A327A Substitution - coding silent 18:48040127-48040127 - SC_9047 COSM5560466 c.1178T>C p.M393T Substitution - Missense 18:48039930-48039930 - TCGA-D3-A1QA-06 COSM3526094 c.1677C>T p.F559F Substitution - coding silent 18:48029443-48029443 - TCGA-GN-A26C-01 COSM3526113 c.88G>A p.D30N Substitution - Missense 18:48041020-48041020 - 71M COSM5596153 c.855G>A p.K285K Substitution - coding silent 18:48040253-48040253 - TCGA-IH-A3EA-01 COSM3526102 c.877G>A p.E293K Substitution - Missense 18:48040231-48040231 - TCGA-HU-A4GX-01 COSM4072381 c.1536C>T p.G512G Substitution - coding silent 18:48029584-48029584 - 61 COSM1388918 c.82C>T p.R28W Substitution - Missense 18:48041026-48041026 - 8013294 COSM3388455 c.1161C>T p.T387T Substitution - coding silent 18:48039947-48039947 - EGC8 COSM1388915 c.403delG p.E135fs*87 Deletion - Frameshift 18:48040705-48040705 - T263 COSM4742224 c.394_395insG p.D132fs*7 Insertion - Frameshift 18:48040713-48040714 - T2940 COSM1388915 c.403delG p.E135fs*87 Deletion - Frameshift 18:48040705-48040705 - 587376 COSM1233174 c.523G>T p.E175* Substitution - Nonsense 18:48040585-48040585 - TCGA-06-0185 COSM2150501 c.27T>C p.I9I Substitution - coding silent 18:48041081-48041081 - QC2-39-T2 COSM5655836 c.231C>G p.I77M Substitution - Missense 18:48040877-48040877 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.515388 18q21.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I183T c.548T>C 18 45566931 BRCA A G Synonymous p.I9I c.27T>C 18 45567452 GBM A G Synonymous p.L248L c.742T>C 18 45566737 CM A G Synonymous p.N3N c.9T>C 18 45567470 STAD C A Missense p.A252S c.754G>T 18 45566725 SCLC C A Missense p.D167Y c.499G>T 18 45566980 SCLC C A Missense p.L248F c.744G>T 18 45566735 NSCLC C A Missense p.R381L c.1142G>T 18 45566337 LUAD C - Frameshift p.A596Pfs*54 c.1786delG 18 45555705 CM C - Frameshift p.E135Rfs*87 c.403delG 18 45567076 STAD C G Missense p.D193H c.577G>C 18 45566902 STAD C G Missense p.E152D c.456G>C 18 45567023 BLCA C G Missense p.S23T c.68G>C 18 45567411 COREAD C T Missense p.A427T c.1279G>A 18 45556212 COREAD C T Missense p.D165N c.493G>A 18 45566986 CM C T Missense p.D243N c.727G>A 18 45566752 CM C T Missense p.D30N c.88G>A 18 45567391 CM C T Missense p.D434N c.1300G>A 18 45556191 CM C T Missense p.D78N c.232G>A 18 45567247 CM C T Missense p.D78N c.232G>A 18 45567247 UCEC C T Missense p.E140K c.418G>A 18 45567061 CM C T Missense p.E154K c.460G>A 18 45567019 COREAD C T Missense p.E293K c.877G>A 18 45566602 CM C T Missense p.E296K c.886G>A 18 45566593 CM C T Missense p.E417K c.1249G>A 18 45556242 CM C T Missense p.R28Q c.83G>A 18 45567396 OV C T Missense p.R465H c.1394G>A 18 45556097 ESCA C T Synonymous p.E295E c.885G>A 18 45566594 CM C T Synonymous p.E552E c.1656G>A 18 45555835 CM C T Synonymous p.G134G c.402G>A 18 45567077 CM C T Synonymous p.K290K c.870G>A 18 45566609 CM C T Synonymous p.L407L c.1221G>A 18 45556270 BLCA C T Synonymous p.R205R c.615G>A 18 45566864 CM G A IntronicSNV . c.1-28245C>T 18 45595723 CLL G A IntronicSNV . c.1-91923C>T 18 45659401 CLL G A Missense p.A575V c.1724C>T 18 45555767 CM G A Missense p.P318L c.953C>T 18 45566526 GBM G A Missense p.P318L c.953C>T 18 45566526 HNSC G A Missense p.P349S c.1045C>T 18 45566434 CM G A Missense p.S50F c.149C>T 18 45567330 CM G A Missense p.T168M c.503C>T 18 45566976 UCEC G A Nonsense p.Q81* c.241C>T 18 45567238 UCEC G A Synonymous p.A239A c.717C>T 18 45566762 CM G A Synonymous p.D145D c.435C>T 18 45567044 RCCC G A Synonymous p.F13F c.39C>T 18 45567440 CM G A Synonymous p.F251F c.753C>T 18 45566726 CM G A Synonymous p.F559F c.1677C>T 18 45555814 CM G A Synonymous p.F576F c.1728C>T 18 45555763 CM G A Synonymous p.I126I c.378C>T 18 45567101 CM G A Synonymous p.S210S c.630C>T 18 45566849 CM G A Synonymous p.T100T c.300C>T 18 45567179 UCEC G C Missense p.Q364E c.1090C>G 18 45566389 HNSC G T Missense p.D434E c.1302C>A 18 45556189 NB - TTGA Frameshift p.E135Vfs*5 c.403_404insTCAA 18 45567075 COREAD