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 5 63507942 63507942 + Missense_Mutation SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr5:63507942G>A c.186G>A c.(184-186)atG>atA p.M62I BLCA 5 63509792 63509792 + Silent SNP G G A TCGA-G2-AA3F-01A-12D-A42E-08 TCGA-G2-AA3F-10A-01D-A42H-08 g.chr5:63509792G>A c.639G>A c.(637-639)caG>caA p.Q213Q BLCA 5 63509826 63509826 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 g.chr5:63509826C>A c.673C>A c.(673-675)Cat>Aat p.H225N BLCA 5 63510096 63510096 + Missense_Mutation SNP G G C TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr5:63510096G>C c.943G>C c.(943-945)Gaa>Caa p.E315Q BLCA 5 63510163 63510163 + Missense_Mutation SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr5:63510163C>T c.1010C>T c.(1009-1011)tCa>tTa p.S337L BLCA 5 63510165 63510165 + Missense_Mutation SNP G G A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr5:63510165G>A c.1012G>A c.(1012-1014)Gct>Act p.A338T BLCA 5 63510232 63510232 + Missense_Mutation SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr5:63510232C>T c.1079C>T c.(1078-1080)tCa>tTa p.S360L BLCA 5 63510308 63510308 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr5:63510308G>A c.1155G>A c.(1153-1155)agG>agA p.R385R BRCA 5 63510190 63510190 + Missense_Mutation SNP C C T TCGA-BH-A0DT-01A-21D-A12B-09 TCGA-BH-A0DT-11A-12D-A12B-09 g.chr5:63510190C>T c.1037C>T c.(1036-1038)tCa>tTa p.S346L BRCA 5 63621163 63621163 + Missense_Mutation SNP C C A TCGA-BH-A18J-01A-11D-A12B-09 TCGA-BH-A18J-11A-31D-A12B-09 g.chr5:63621163C>A c.1378C>A c.(1378-1380)Ctg>Atg p.L460M BRCA 5 63626151 63626151 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr5:63626151G>C c.1497G>C c.(1495-1497)ttG>ttC p.L499F CESC 5 63496634 63496634 + Splice_Site SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr5:63496634G>C c.e2-1 CESC 5 63621060 63621060 + Silent SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr5:63621060A>G c.1275A>G c.(1273-1275)gaA>gaG p.E425E CHOL 5 63621158 63621158 + Missense_Mutation SNP G G T TCGA-W5-AA2I-01A-32D-A417-09 TCGA-W5-AA2I-10A-01D-A41A-09 g.chr5:63621158G>T c.1373G>T c.(1372-1374)cGg>cTg p.R458L COAD 5 63496666 63496666 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:63496666A>C c.32A>C c.(31-33)aAt>aCt p.N11T COAD 5 63496723 63496723 + Missense_Mutation SNP C C A TCGA-CM-4744-01A-01D-1408-10 TCGA-CM-4744-10A-01D-1408-10 g.chr5:63496723C>A c.89C>A c.(88-90)gCa>gAa p.A30E COAD 5 63509514 63509514 + Missense_Mutation SNP G G T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr5:63509514G>T c.361G>T c.(361-363)Gat>Tat p.D121Y COAD 5 63509596 63509596 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:63509596A>G c.443A>G c.(442-444)gAc>gGc p.D148G COAD 5 63509722 63509722 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:63509722A>G c.569A>G c.(568-570)tAt>tGt p.Y190C COAD 5 63509763 63509763 + Nonsense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:63509763G>T c.610G>T c.(610-612)Gaa>Taa p.E204* COAD 5 63509804 63509804 + Silent SNP C C A TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr5:63509804C>A c.651C>A c.(649-651)ggC>ggA p.G217G COAD 5 63509814 63509814 + Missense_Mutation SNP A A G TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr5:63509814A>G c.661A>G c.(661-663)Aca>Gca p.T221A COAD 5 63509832 63509832 + Missense_Mutation SNP A A G TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr5:63509832A>G c.679A>G c.(679-681)Aaa>Gaa p.K227E COAD 5 63509985 63509985 + Missense_Mutation SNP T T A TCGA-AA-3693-01A-01W-0900-09 TCGA-AA-3693-10A-01W-0900-09 g.chr5:63509985T>A c.832T>A c.(832-834)Tat>Aat p.Y278N COAD 5 63510248 63510248 + Silent SNP G G A TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr5:63510248G>A c.1095G>A c.(1093-1095)ttG>ttA p.L365L COAD 5 63626215 63626215 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:63626215G>T c.1561G>T c.(1561-1563)Gca>Tca p.A521S COAD 5 63626221 63626221 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:63626221C>A c.1567C>A c.(1567-1569)Cat>Aat p.H523N COAD 5 63665454 63665454 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr5:63665454A>G c.1592A>G c.(1591-1593)cAt>cGt p.H531R COAD 5 63665531 63665531 + Missense_Mutation SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr5:63665531C>T c.1669C>T c.(1669-1671)Cgt>Tgt p.R557C COADREAD 5 63496666 63496666 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:63496666A>C c.32A>C c.(31-33)aAt>aCt p.N11T COADREAD 5 63496723 63496723 + Missense_Mutation SNP C C A TCGA-CM-4744-01A-01D-1408-10 TCGA-CM-4744-10A-01D-1408-10 g.chr5:63496723C>A c.89C>A c.(88-90)gCa>gAa p.A30E COADREAD 5 63509432 63509432 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:63509432T>C c.279T>C c.(277-279)cgT>cgC p.R93R COADREAD 5 63509514 63509514 + Missense_Mutation SNP G G T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr5:63509514G>T c.361G>T c.(361-363)Gat>Tat p.D121Y COADREAD 5 63509596 63509596 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:63509596A>G c.443A>G c.(442-444)gAc>gGc p.D148G COADREAD 5 63509722 63509722 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:63509722A>G c.569A>G c.(568-570)tAt>tGt p.Y190C COADREAD 5 63509763 63509763 + Nonsense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:63509763G>T c.610G>T c.(610-612)Gaa>Taa p.E204* COADREAD 5 63509804 63509804 + Silent SNP C C A TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr5:63509804C>A c.651C>A c.(649-651)ggC>ggA p.G217G COADREAD 5 63509814 63509814 + Missense_Mutation SNP A A G TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr5:63509814A>G c.661A>G c.(661-663)Aca>Gca p.T221A COADREAD 5 63509832 63509832 + Missense_Mutation SNP A A G TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr5:63509832A>G c.679A>G c.(679-681)Aaa>Gaa p.K227E COADREAD 5 63509985 63509985 + Missense_Mutation SNP T T A TCGA-AA-3693-01A-01W-0900-09 TCGA-AA-3693-10A-01W-0900-09 g.chr5:63509985T>A c.832T>A c.(832-834)Tat>Aat p.Y278N COADREAD 5 63510221 63510221 + Missense_Mutation SNP C C A TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr5:63510221C>A c.1068C>A c.(1066-1068)gaC>gaA p.D356E COADREAD 5 63510248 63510248 + Silent SNP G G A TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr5:63510248G>A c.1095G>A c.(1093-1095)ttG>ttA p.L365L COADREAD 5 63621206 63621206 + Missense_Mutation SNP G G A TCGA-AH-6644-01A-21D-1826-10 TCGA-AH-6644-10A-01D-1826-10 g.chr5:63621206G>A c.1421G>A c.(1420-1422)cGg>cAg p.R474Q COADREAD 5 63626215 63626215 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:63626215G>T c.1561G>T c.(1561-1563)Gca>Tca p.A521S COADREAD 5 63626221 63626221 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:63626221C>A c.1567C>A c.(1567-1569)Cat>Aat p.H523N COADREAD 5 63665454 63665454 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr5:63665454A>G c.1592A>G c.(1591-1593)cAt>cGt p.H531R COADREAD 5 63665531 63665531 + Missense_Mutation SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr5:63665531C>T c.1669C>T c.(1669-1671)Cgt>Tgt p.R557C DLBC 5 63626166 63626166 + Silent SNP C C T TCGA-GS-A9TT-01A-11D-A382-10 TCGA-GS-A9TT-10A-01D-A385-10 g.chr5:63626166C>T c.1512C>T c.(1510-1512)agC>agT p.S504S ESCA 5 63509747 63509747 + Silent SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 g.chr5:63509747G>T c.594G>T c.(592-594)ctG>ctT p.L198L ESCA 5 63621154 63621154 + Silent SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 g.chr5:63621154T>C c.1369T>C c.(1369-1371)Tta>Cta p.L457L ESCA 5 63626151 63626151 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 g.chr5:63626151G>T c.1497G>T c.(1495-1497)ttG>ttT p.L499F GBMLGG 5 63509839 63509840 + Frame_Shift_Del DEL AT AT - TCGA-DU-7018-01A-11D-2024-08 TCGA-DU-7018-10A-01D-2024-08 g.chr5:63509839_63509840delAT c.686_687delAT c.(685-687)catfs p.H229fs HNSC 5 63509383 63509383 + Splice_Site SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 g.chr5:63509383A>T c.e4-1 HNSC 5 63509890 63509890 + Missense_Mutation SNP A A T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 g.chr5:63509890A>T c.737A>T c.(736-738)tAt>tTt p.Y246F HNSC 5 63510034 63510034 + Missense_Mutation SNP G G T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 g.chr5:63510034G>T c.881G>T c.(880-882)aGa>aTa p.R294I LGG 5 63509839 63509840 + Frame_Shift_Del DEL AT AT - TCGA-DU-7018-01A-11D-2024-08 TCGA-DU-7018-10A-01D-2024-08 g.chr5:63509839_63509840delAT c.686_687delAT c.(685-687)catfs p.H229fs LIHC 5 63510007 63510007 + Missense_Mutation SNP G G T TCGA-DD-AACB-01A-11D-A40R-10 TCGA-DD-AACB-10A-01D-A40U-10 g.chr5:63510007G>T c.854G>T c.(853-855)aGt>aTt p.S285I LUAD 5 63509437 63509437 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chr5:63509437G>T c.284G>T c.(283-285)gGg>gTg p.G95V LUAD 5 63509536 63509536 + Missense_Mutation SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr5:63509536G>T c.383G>T c.(382-384)gGc>gTc p.G128V LUAD 5 63509680 63509680 + Missense_Mutation SNP G G A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr5:63509680G>A c.527G>A c.(526-528)gGa>gAa p.G176E LUAD 5 63509778 63509778 + Missense_Mutation SNP C C G TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr5:63509778C>G c.625C>G c.(625-627)Ctt>Gtt p.L209V LUAD 5 63509792 63509792 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr5:63509792G>T c.639G>T c.(637-639)caG>caT p.Q213H LUAD 5 63509899 63509899 + Missense_Mutation SNP A A T TCGA-44-3396-01A-01D-1553-08 TCGA-44-3396-10A-01D-1265-08 g.chr5:63509899A>T c.746A>T c.(745-747)cAt>cTt p.H249L LUAD 5 63510244 63510244 + Nonsense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 g.chr5:63510244C>A c.1091C>A c.(1090-1092)tCa>tAa p.S364* LUAD 5 63510304 63510304 + Missense_Mutation SNP G G C TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr5:63510304G>C c.1151G>C c.(1150-1152)aGa>aCa p.R384T LUSC 5 63510147 63510147 + Missense_Mutation SNP C C A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 g.chr5:63510147C>A c.994C>A c.(994-996)Ctg>Atg p.L332M OV 5 63510328 63510328 + Missense_Mutation SNP G G C TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 g.chr5:63510328G>C c.1175G>C c.(1174-1176)aGa>aCa p.R392T PAAD 5 63509712 63509712 + Nonsense_Mutation SNP C C T TCGA-OE-A75W-01A-12D-A32N-08 TCGA-OE-A75W-10A-01D-A32N-08 g.chr5:63509712C>T c.559C>T c.(559-561)Cga>Tga p.R187* READ 5 63509432 63509432 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:63509432T>C c.279T>C c.(277-279)cgT>cgC p.R93R READ 5 63510221 63510221 + Missense_Mutation SNP C C A TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr5:63510221C>A c.1068C>A c.(1066-1068)gaC>gaA p.D356E READ 5 63621206 63621206 + Missense_Mutation SNP G G A TCGA-AH-6644-01A-21D-1826-10 TCGA-AH-6644-10A-01D-1826-10 g.chr5:63621206G>A c.1421G>A c.(1420-1422)cGg>cAg p.R474Q SKCM 5 63496695 63496695 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr5:63496695C>T c.61C>T c.(61-63)Cgt>Tgt p.R21C SKCM 5 63496695 63496695 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr5:63496695C>T c.61C>T c.(61-63)Cgt>Tgt p.R21C SKCM 5 63509400 63509400 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr5:63509400G>A c.247G>A c.(247-249)Gga>Aga p.G83R SKCM 5 63509401 63509401 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:63509401G>A c.248G>A c.(247-249)gGa>gAa p.G83E SKCM 5 63509416 63509416 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr5:63509416C>T c.263C>T c.(262-264)cCt>cTt p.P88L SKCM 5 63509920 63509920 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr5:63509920C>T c.767C>T c.(766-768)tCc>tTc p.S256F SKCM 5 63509989 63509989 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr5:63509989C>T c.836C>T c.(835-837)tCc>tTc p.S279F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 5 63509826 63509826 single base substitution C A downstream_gene_variant BLCA-US 5 63509826 63509826 single base substitution C A intron_variant BLCA-US 5 63509826 63509826 single base substitution C A missense_variant H225N 673C>A BLCA-US 5 63510308 63510308 single base substitution G A downstream_gene_variant BLCA-US 5 63510308 63510308 single base substitution G A intron_variant BLCA-US 5 63510308 63510308 single base substitution G A synonymous_variant R385R 1155G>A BRCA-EU 5 63458456 63458456 single base substitution C T upstream_gene_variant BRCA-EU 5 63458838 63458838 single base substitution T A upstream_gene_variant BRCA-EU 5 63460597 63460597 single base substitution A T upstream_gene_variant BRCA-EU 5 63460911 63460911 single base substitution G C upstream_gene_variant BRCA-EU 5 63460929 63460929 insertion of <=200bp - T upstream_gene_variant BRCA-EU 5 63461223 63461223 single base substitution A G upstream_gene_variant BRCA-EU 5 63465407 63465407 single base substitution C A intron_variant BRCA-EU 5 63465441 63465441 single base substitution G A intron_variant BRCA-EU 5 63466104 63466104 single base substitution G A intron_variant BRCA-EU 5 63466206 63466206 single base substitution G A intron_variant BRCA-EU 5 63466552 63466552 single base substitution A C intron_variant BRCA-EU 5 63467148 63467148 single base substitution T G intron_variant BRCA-EU 5 63467378 63467378 single base substitution G T intron_variant BRCA-EU 5 63467670 63467670 deletion of <=200bp C - intron_variant BRCA-EU 5 63467818 63467818 single base substitution T G intron_variant BRCA-EU 5 63468030 63468030 single base substitution C T intron_variant BRCA-EU 5 63468033 63468033 single base substitution A C intron_variant BRCA-EU 5 63468072 63468072 single base substitution G C intron_variant BRCA-EU 5 63468781 63468781 single base substitution G A intron_variant BRCA-EU 5 63469314 63469314 single base substitution C G intron_variant BRCA-EU 5 63470299 63470299 deletion of <=200bp T - intron_variant BRCA-EU 5 63470397 63470397 single base substitution G A intron_variant BRCA-EU 5 63471153 63471153 single base substitution G A intron_variant BRCA-EU 5 63471217 63471217 single base substitution A T intron_variant BRCA-EU 5 63472234 63472234 single base substitution G T intron_variant BRCA-EU 5 63472906 63472906 single base substitution G T intron_variant BRCA-EU 5 63474011 63474011 single base substitution C T intron_variant BRCA-EU 5 63474112 63474112 single base substitution A C intron_variant BRCA-EU 5 63474328 63474328 single base substitution T A intron_variant BRCA-EU 5 63474778 63474778 deletion of <=200bp A - intron_variant BRCA-EU 5 63477487 63477487 single base substitution C T intron_variant BRCA-EU 5 63478082 63478082 single base substitution T C intron_variant BRCA-EU 5 63478183 63478183 single base substitution C T intron_variant BRCA-EU 5 63480159 63480159 single base substitution G A intron_variant BRCA-EU 5 63480644 63480644 single base substitution T C intron_variant BRCA-EU 5 63482039 63482039 single base substitution C A intron_variant BRCA-EU 5 63482721 63482721 single base substitution G A intron_variant BRCA-EU 5 63482783 63482783 single base substitution G A intron_variant BRCA-EU 5 63484511 63484511 single base substitution G A intron_variant BRCA-EU 5 63485961 63485961 single base substitution G C intron_variant BRCA-EU 5 63486764 63486764 single base substitution G A intron_variant BRCA-EU 5 63487054 63487054 single base substitution T C intron_variant BRCA-EU 5 63487673 63487673 single base substitution T A intron_variant BRCA-EU 5 63488327 63488327 single base substitution T C intron_variant BRCA-EU 5 63488525 63488525 single base substitution T C intron_variant BRCA-EU 5 63488840 63488840 single base substitution G C intron_variant BRCA-EU 5 63489295 63489295 single base substitution A T intron_variant BRCA-EU 5 63489428 63489428 single base substitution C T intron_variant BRCA-EU 5 63493492 63493492 single base substitution G C intron_variant BRCA-EU 5 63494340 63494340 single base substitution C T intron_variant BRCA-EU 5 63494938 63494938 single base substitution C G intron_variant BRCA-EU 5 63495035 63495035 single base substitution G A intron_variant BRCA-EU 5 63495230 63495230 single base substitution C T intron_variant BRCA-EU 5 63497047 63497047 single base substitution A C intron_variant BRCA-EU 5 63499396 63499396 single base substitution C G intron_variant BRCA-EU 5 63500230 63500230 single base substitution G A intron_variant BRCA-EU 5 63507527 63507527 single base substitution G C intron_variant BRCA-EU 5 63508418 63508418 single base substitution A G intron_variant BRCA-EU 5 63510339 63510339 single base substitution A G downstream_gene_variant BRCA-EU 5 63510339 63510339 single base substitution A G intron_variant BRCA-EU 5 63510339 63510339 single base substitution A G missense_variant K396E 1186A>G BRCA-EU 5 63510981 63510981 single base substitution G A downstream_gene_variant BRCA-EU 5 63510981 63510981 single base substitution G A intron_variant BRCA-EU 5 63512583 63512583 single base substitution A G downstream_gene_variant BRCA-EU 5 63512583 63512583 single base substitution A G intron_variant BRCA-EU 5 63514837 63514837 single base substitution A G downstream_gene_variant BRCA-EU 5 63514837 63514837 single base substitution A G intron_variant BRCA-EU 5 63515586 63515586 single base substitution T A downstream_gene_variant BRCA-EU 5 63515586 63515586 single base substitution T A intron_variant BRCA-EU 5 63517063 63517063 single base substitution A T downstream_gene_variant BRCA-EU 5 63517063 63517063 single base substitution A T intron_variant BRCA-EU 5 63517360 63517360 single base substitution T C downstream_gene_variant BRCA-EU 5 63517360 63517360 single base substitution T C intron_variant BRCA-EU 5 63517910 63517910 single base substitution A G downstream_gene_variant BRCA-EU 5 63517910 63517910 single base substitution A G intron_variant BRCA-EU 5 63519594 63519594 single base substitution C T intron_variant BRCA-EU 5 63519798 63519798 single base substitution G A intron_variant BRCA-EU 5 63519804 63519804 single base substitution G C intron_variant BRCA-EU 5 63520614 63520614 single base substitution C A intron_variant BRCA-EU 5 63521068 63521068 single base substitution C T intron_variant BRCA-EU 5 63521832 63521832 single base substitution G C intron_variant BRCA-EU 5 63523538 63523538 single base substitution C T intron_variant BRCA-EU 5 63525607 63525607 single base substitution G A intron_variant BRCA-EU 5 63526738 63526738 single base substitution T A intron_variant BRCA-EU 5 63527333 63527333 single base substitution A T intron_variant BRCA-EU 5 63528686 63528686 single base substitution A G intron_variant BRCA-EU 5 63529529 63529529 single base substitution C T intron_variant BRCA-EU 5 63530487 63530487 single base substitution C T intron_variant BRCA-EU 5 63532547 63532547 single base substitution C T intron_variant BRCA-EU 5 63534153 63534153 single base substitution T C intron_variant BRCA-EU 5 63534193 63534193 single base substitution C T intron_variant BRCA-EU 5 63534355 63534355 single base substitution C T intron_variant BRCA-EU 5 63537189 63537189 single base substitution T A intron_variant BRCA-EU 5 63539699 63539699 single base substitution G C intron_variant BRCA-EU 5 63541542 63541542 single base substitution G T intron_variant BRCA-EU 5 63543409 63543409 single base substitution A G intron_variant BRCA-EU 5 63544672 63544672 single base substitution G A intron_variant BRCA-EU 5 63544986 63544986 single base substitution G T intron_variant BRCA-EU 5 63545741 63545741 single base substitution C T intron_variant BRCA-EU 5 63545862 63545862 single base substitution A G intron_variant BRCA-EU 5 63546144 63546144 single base substitution C T intron_variant BRCA-EU 5 63546180 63546180 single base substitution C T intron_variant BRCA-EU 5 63547716 63547716 single base substitution G A intron_variant BRCA-EU 5 63548019 63548019 single base substitution T A intron_variant BRCA-EU 5 63548036 63548036 single base substitution C T intron_variant BRCA-EU 5 63548655 63548655 single base substitution G C intron_variant BRCA-EU 5 63548990 63548990 single base substitution T C intron_variant BRCA-EU 5 63549085 63549085 single base substitution A G intron_variant BRCA-EU 5 63549306 63549306 single base substitution G A intron_variant BRCA-EU 5 63549857 63549857 single base substitution C A intron_variant BRCA-EU 5 63550001 63550001 single base substitution G C intron_variant BRCA-EU 5 63550533 63550533 single base substitution T G intron_variant BRCA-EU 5 63550730 63550730 single base substitution G A intron_variant BRCA-EU 5 63550967 63550967 single base substitution G C intron_variant BRCA-EU 5 63551754 63551754 single base substitution G C intron_variant BRCA-EU 5 63551869 63551869 single base substitution G A intron_variant BRCA-EU 5 63552055 63552055 single base substitution G T intron_variant BRCA-EU 5 63552962 63552962 single base substitution A T intron_variant BRCA-EU 5 63553005 63553005 single base substitution A T intron_variant BRCA-EU 5 63553468 63553468 single base substitution C G intron_variant BRCA-EU 5 63553891 63553891 single base substitution C A intron_variant BRCA-EU 5 63555020 63555020 single base substitution T C intron_variant BRCA-EU 5 63555336 63555336 single base substitution C T intron_variant BRCA-EU 5 63555680 63555680 single base substitution G A intron_variant BRCA-EU 5 63555779 63555779 single base substitution C G intron_variant BRCA-EU 5 63557409 63557409 insertion of <=200bp - A intron_variant BRCA-EU 5 63558217 63558217 single base substitution T C intron_variant BRCA-EU 5 63558243 63558243 single base substitution C T intron_variant BRCA-EU 5 63558865 63558865 single base substitution T A intron_variant BRCA-EU 5 63560048 63560048 deletion of <=200bp T - intron_variant BRCA-EU 5 63560403 63560403 single base substitution C T intron_variant BRCA-EU 5 63561818 63561818 single base substitution A G intron_variant BRCA-EU 5 63562622 63562622 single base substitution G A intron_variant BRCA-EU 5 63563145 63563145 deletion of <=200bp T - intron_variant BRCA-EU 5 63564628 63564628 single base substitution T G intron_variant BRCA-EU 5 63565812 63565812 single base substitution T G intron_variant BRCA-EU 5 63566520 63566520 deletion of <=200bp T - intron_variant BRCA-EU 5 63570526 63570526 single base substitution C A intron_variant BRCA-EU 5 63572819 63572819 single base substitution C T intron_variant BRCA-EU 5 63573023 63573023 single base substitution A G intron_variant BRCA-EU 5 63573024 63573024 single base substitution A G intron_variant BRCA-EU 5 63573218 63573218 single base substitution C A intron_variant BRCA-EU 5 63573254 63573254 single base substitution G A intron_variant BRCA-EU 5 63573979 63573993 deletion of <=200bp GTGTCGAAATGGCAT - intron_variant BRCA-EU 5 63574284 63574306 deletion of <=200bp GAGGAAATGCTAAGTCCAGACAA - intron_variant BRCA-EU 5 63574737 63574737 single base substitution G A intron_variant BRCA-EU 5 63575986 63575986 deletion of <=200bp T - intron_variant BRCA-EU 5 63577167 63577167 single base substitution G A intron_variant BRCA-EU 5 63580213 63580213 single base substitution A T intron_variant BRCA-EU 5 63580838 63580838 single base substitution T G intron_variant BRCA-EU 5 63581830 63581830 single base substitution C A intron_variant BRCA-EU 5 63582533 63582533 single base substitution C T intron_variant BRCA-EU 5 63583369 63583369 single base substitution A G intron_variant BRCA-EU 5 63583382 63583382 single base substitution C T intron_variant BRCA-EU 5 63584502 63584502 single base substitution C T intron_variant BRCA-EU 5 63585681 63585681 deletion of <=200bp T - intron_variant BRCA-EU 5 63585724 63585724 single base substitution G A intron_variant BRCA-EU 5 63586066 63586066 single base substitution G A intron_variant BRCA-EU 5 63587172 63587172 single base substitution G C intron_variant BRCA-EU 5 63588666 63588666 single base substitution C T intron_variant BRCA-EU 5 63590200 63590200 single base substitution A G intron_variant BRCA-EU 5 63590240 63590240 single base substitution G A intron_variant BRCA-EU 5 63590758 63590758 single base substitution T A intron_variant BRCA-EU 5 63590795 63590795 single base substitution C A intron_variant BRCA-EU 5 63592984 63592984 single base substitution A T intron_variant BRCA-EU 5 63596055 63596055 single base substitution G A intron_variant BRCA-EU 5 63596325 63596325 deletion of <=200bp T - intron_variant BRCA-EU 5 63597396 63597396 single base substitution C A intron_variant BRCA-EU 5 63598301 63598301 single base substitution T A intron_variant BRCA-EU 5 63598413 63598413 single base substitution G T intron_variant BRCA-EU 5 63598620 63598620 single base substitution G C intron_variant BRCA-EU 5 63599462 63599462 single base substitution G A intron_variant BRCA-EU 5 63599486 63599486 single base substitution G T intron_variant BRCA-EU 5 63600929 63600929 single base substitution G A intron_variant BRCA-EU 5 63601281 63601281 single base substitution G C intron_variant BRCA-EU 5 63601596 63601596 single base substitution C T intron_variant BRCA-EU 5 63604009 63604009 single base substitution G A intron_variant BRCA-EU 5 63606809 63606809 single base substitution A G intron_variant BRCA-EU 5 63608666 63608666 single base substitution C T intron_variant BRCA-EU 5 63609734 63609734 single base substitution G A intron_variant BRCA-EU 5 63612071 63612071 single base substitution T A intron_variant BRCA-EU 5 63612440 63612440 single base substitution C T intron_variant BRCA-EU 5 63613201 63613201 deletion of <=200bp A - intron_variant BRCA-EU 5 63613212 63613212 single base substitution G A intron_variant BRCA-EU 5 63613556 63613556 insertion of <=200bp - TATA intron_variant BRCA-EU 5 63613936 63613936 single base substitution G T intron_variant BRCA-EU 5 63614140 63614140 single base substitution G C intron_variant BRCA-EU 5 63615760 63615760 single base substitution C T intron_variant BRCA-EU 5 63616685 63616685 single base substitution G A intron_variant BRCA-EU 5 63616690 63616690 single base substitution C A intron_variant BRCA-EU 5 63617566 63617566 single base substitution G A intron_variant BRCA-EU 5 63618059 63618059 single base substitution T G intron_variant BRCA-EU 5 63618060 63618060 single base substitution G T intron_variant BRCA-EU 5 63619498 63619498 single base substitution G C intron_variant BRCA-EU 5 63619751 63619751 single base substitution G C intron_variant BRCA-EU 5 63620868 63620868 single base substitution G C intron_variant BRCA-EU 5 63622669 63622669 single base substitution C T intron_variant BRCA-EU 5 63622766 63622766 single base substitution T G intron_variant BRCA-EU 5 63622832 63622832 single base substitution C T intron_variant BRCA-EU 5 63624054 63624054 single base substitution C T intron_variant BRCA-EU 5 63624105 63624105 single base substitution C T intron_variant BRCA-EU 5 63624315 63624315 single base substitution A T intron_variant BRCA-EU 5 63624619 63624619 single base substitution T A intron_variant BRCA-EU 5 63626252 63626252 deletion of <=200bp A - intron_variant BRCA-EU 5 63626606 63626606 single base substitution G T intron_variant BRCA-EU 5 63633226 63633226 single base substitution A T intron_variant BRCA-EU 5 63634106 63634106 single base substitution C A intron_variant BRCA-EU 5 63635470 63635470 single base substitution G A intron_variant BRCA-EU 5 63635988 63635988 single base substitution T C intron_variant BRCA-EU 5 63636518 63636518 deletion of <=200bp T - intron_variant BRCA-EU 5 63637544 63637544 single base substitution G A intron_variant BRCA-EU 5 63638450 63638450 single base substitution G C intron_variant BRCA-EU 5 63638839 63638839 single base substitution C T intron_variant BRCA-EU 5 63640795 63640795 single base substitution C G intron_variant BRCA-EU 5 63640871 63640871 single base substitution G A intron_variant BRCA-EU 5 63641651 63641651 single base substitution A T intron_variant BRCA-EU 5 63641840 63641840 single base substitution G T intron_variant BRCA-EU 5 63641965 63641965 deletion of <=200bp T - intron_variant BRCA-EU 5 63642675 63642675 single base substitution G C intron_variant BRCA-EU 5 63645028 63645028 single base substitution G C intron_variant BRCA-EU 5 63645501 63645501 single base substitution G A intron_variant BRCA-EU 5 63645681 63645681 single base substitution T C intron_variant BRCA-EU 5 63649730 63649730 deletion of <=200bp A - intron_variant BRCA-EU 5 63651297 63651297 single base substitution T G intron_variant BRCA-EU 5 63651300 63651300 single base substitution G C intron_variant BRCA-EU 5 63651809 63651809 single base substitution C A intron_variant BRCA-EU 5 63652155 63652155 single base substitution G A intron_variant BRCA-EU 5 63653161 63653161 single base substitution A T intron_variant BRCA-EU 5 63653472 63653472 single base substitution G C intron_variant BRCA-EU 5 63654357 63654357 single base substitution G A intron_variant BRCA-EU 5 63655816 63655816 single base substitution A G intron_variant BRCA-EU 5 63655845 63655845 single base substitution G A intron_variant BRCA-EU 5 63659720 63659720 single base substitution T C intron_variant BRCA-EU 5 63659758 63659758 single base substitution G A intron_variant BRCA-EU 5 63660231 63660231 single base substitution G T intron_variant BRCA-EU 5 63660423 63660423 single base substitution C G intron_variant BRCA-EU 5 63661650 63661650 single base substitution G A intron_variant BRCA-EU 5 63661830 63661830 single base substitution G A intron_variant BRCA-EU 5 63662047 63662047 single base substitution T G intron_variant BRCA-EU 5 63662272 63662272 single base substitution C A intron_variant BRCA-EU 5 63663827 63663827 single base substitution T C intron_variant BRCA-EU 5 63664567 63664567 single base substitution C A intron_variant BRCA-EU 5 63666034 63666034 single base substitution T C 3_prime_UTR_variant BRCA-EU 5 63666339 63666339 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 63669574 63669574 single base substitution G C downstream_gene_variant BRCA-EU 5 63669575 63669575 single base substitution G T downstream_gene_variant BRCA-EU 5 63669627 63669627 single base substitution C T downstream_gene_variant BRCA-EU 5 63671009 63671009 single base substitution G T downstream_gene_variant BRCA-EU 5 63671368 63671368 single base substitution C T downstream_gene_variant BRCA-EU 5 63673184 63673184 single base substitution T C downstream_gene_variant BRCA-EU 5 63673619 63673619 single base substitution G T downstream_gene_variant BRCA-FR 5 63460911 63460911 single base substitution G C upstream_gene_variant BRCA-FR 5 63463009 63463009 single base substitution G A intron_variant BRCA-FR 5 63472067 63472067 single base substitution T C intron_variant BRCA-FR 5 63482039 63482039 single base substitution C A intron_variant BRCA-FR 5 63484511 63484511 single base substitution G A intron_variant BRCA-FR 5 63487773 63487773 single base substitution T A intron_variant BRCA-FR 5 63489295 63489295 single base substitution A T intron_variant BRCA-FR 5 63493492 63493492 single base substitution G C intron_variant BRCA-FR 5 63495035 63495035 single base substitution G A intron_variant BRCA-FR 5 63507527 63507527 single base substitution G C intron_variant BRCA-FR 5 63510981 63510981 single base substitution G A downstream_gene_variant BRCA-FR 5 63510981 63510981 single base substitution G A intron_variant BRCA-FR 5 63515586 63515586 single base substitution T A downstream_gene_variant BRCA-FR 5 63515586 63515586 single base substitution T A intron_variant BRCA-FR 5 63520569 63520569 single base substitution A C intron_variant BRCA-FR 5 63523196 63523196 single base substitution G A intron_variant BRCA-FR 5 63530487 63530487 single base substitution C T intron_variant BRCA-FR 5 63534153 63534153 single base substitution T C intron_variant BRCA-FR 5 63544400 63544400 single base substitution T C intron_variant BRCA-FR 5 63544672 63544672 single base substitution G A intron_variant BRCA-FR 5 63545741 63545741 single base substitution C T intron_variant BRCA-FR 5 63547213 63547213 single base substitution C T intron_variant BRCA-FR 5 63547716 63547716 single base substitution G A intron_variant BRCA-FR 5 63549306 63549306 single base substitution G A intron_variant BRCA-FR 5 63549857 63549857 single base substitution C A intron_variant BRCA-FR 5 63550730 63550730 single base substitution G A intron_variant BRCA-FR 5 63555336 63555336 single base substitution C T intron_variant BRCA-FR 5 63558217 63558217 single base substitution T C intron_variant BRCA-FR 5 63560652 63560652 single base substitution G A intron_variant BRCA-FR 5 63566386 63566386 single base substitution G A intron_variant BRCA-FR 5 63575712 63575712 single base substitution G A intron_variant BRCA-FR 5 63583953 63583953 single base substitution C A intron_variant BRCA-FR 5 63590795 63590795 single base substitution C A intron_variant BRCA-FR 5 63597396 63597396 single base substitution C A intron_variant BRCA-FR 5 63598413 63598413 single base substitution G T intron_variant BRCA-FR 5 63599486 63599486 single base substitution G T intron_variant BRCA-FR 5 63600406 63600406 single base substitution G A intron_variant BRCA-FR 5 63600929 63600929 single base substitution G A intron_variant BRCA-FR 5 63609734 63609734 single base substitution G A intron_variant BRCA-FR 5 63612071 63612071 single base substitution T A intron_variant BRCA-FR 5 63617978 63617978 single base substitution G C intron_variant BRCA-FR 5 63619498 63619498 single base substitution G C intron_variant BRCA-FR 5 63638450 63638450 single base substitution G C intron_variant BRCA-FR 5 63651297 63651297 single base substitution T G intron_variant BRCA-FR 5 63652155 63652155 single base substitution G A intron_variant BRCA-FR 5 63653161 63653161 single base substitution A T intron_variant BRCA-FR 5 63655816 63655816 single base substitution A G intron_variant BRCA-FR 5 63655845 63655845 single base substitution G A intron_variant BRCA-FR 5 63659758 63659758 single base substitution G A intron_variant BRCA-FR 5 63671368 63671368 single base substitution C T downstream_gene_variant BRCA-UK 5 63471003 63471003 single base substitution A G intron_variant BRCA-UK 5 63474011 63474011 single base substitution C T intron_variant BRCA-UK 5 63478183 63478183 single base substitution C T intron_variant BRCA-UK 5 63529631 63529631 single base substitution G A intron_variant BRCA-UK 5 63550533 63550533 single base substitution T G intron_variant BRCA-UK 5 63586425 63586425 single base substitution C G intron_variant BRCA-UK 5 63612176 63612176 single base substitution C G intron_variant BRCA-UK 5 63641840 63641840 single base substitution G T intron_variant BRCA-UK 5 63643518 63643518 single base substitution G A intron_variant BRCA-US 5 63510190 63510190 single base substitution C T downstream_gene_variant BRCA-US 5 63510190 63510190 single base substitution C T intron_variant BRCA-US 5 63510190 63510190 single base substitution C T missense_variant S346L 1037C>T BRCA-US 5 63621163 63621163 single base substitution C A missense_variant L460M 1378C>A BTCA-JP 5 63509981 63509981 single base substitution T C downstream_gene_variant BTCA-JP 5 63509981 63509981 single base substitution T C intron_variant BTCA-JP 5 63509981 63509981 single base substitution T C synonymous_variant N276N 828T>C BTCA-JP 5 63509989 63509989 single base substitution C T downstream_gene_variant BTCA-JP 5 63509989 63509989 single base substitution C T intron_variant BTCA-JP 5 63509989 63509989 single base substitution C T missense_variant S279F 836C>T BTCA-JP 5 63510046 63510046 insertion of <=200bp - C downstream_gene_variant BTCA-JP 5 63510046 63510046 insertion of <=200bp - C frameshift_variant A298A? BTCA-JP 5 63510046 63510046 insertion of <=200bp - C intron_variant BTCA-JP 5 63621293 63621293 single base substitution C G intron_variant BTCA-JP 5 63626233 63626233 single base substitution G A missense_variant G527S 1579G>A BTCA-JP 5 63665433 63665433 single base substitution A G intron_variant CESC-US 5 63496634 63496634 single base substitution G C splice_acceptor_variant CESC-US 5 63621060 63621060 single base substitution A G synonymous_variant E425E 1275A>G CLLE-ES 5 63456917 63456917 single base substitution G C upstream_gene_variant CLLE-ES 5 63459592 63459592 single base substitution G A upstream_gene_variant CLLE-ES 5 63462316 63462316 single base substitution A G intron_variant CLLE-ES 5 63463013 63463013 single base substitution C T intron_variant CLLE-ES 5 63468169 63468169 single base substitution C A intron_variant CLLE-ES 5 63480496 63480496 single base substitution T C intron_variant CLLE-ES 5 63496953 63496953 single base substitution G A intron_variant CLLE-ES 5 63502019 63502019 single base substitution G A intron_variant CLLE-ES 5 63510681 63510681 single base substitution A T downstream_gene_variant CLLE-ES 5 63510681 63510681 single base substitution A T intron_variant CLLE-ES 5 63528356 63528356 single base substitution T A intron_variant CLLE-ES 5 63534590 63534590 single base substitution T A intron_variant CLLE-ES 5 63534650 63534650 single base substitution A C intron_variant CLLE-ES 5 63545426 63545426 single base substitution A G intron_variant CLLE-ES 5 63560506 63560506 single base substitution T C intron_variant CLLE-ES 5 63564213 63564213 single base substitution C A intron_variant CLLE-ES 5 63574335 63574335 single base substitution A T intron_variant CLLE-ES 5 63582325 63582325 single base substitution T G intron_variant CLLE-ES 5 63583121 63583121 single base substitution T A intron_variant CLLE-ES 5 63585255 63585255 single base substitution C A intron_variant CLLE-ES 5 63592917 63592917 single base substitution A G intron_variant CLLE-ES 5 63597073 63597073 deletion of <=200bp A - intron_variant CLLE-ES 5 63600457 63600457 single base substitution A C intron_variant CLLE-ES 5 63617346 63617346 single base substitution G A intron_variant CLLE-ES 5 63619383 63619383 single base substitution A G intron_variant CLLE-ES 5 63627227 63627227 single base substitution A G intron_variant CLLE-ES 5 63639147 63639147 single base substitution A T intron_variant CLLE-ES 5 63642082 63642082 deletion of <=200bp T - intron_variant CLLE-ES 5 63644287 63644287 single base substitution A G intron_variant CLLE-ES 5 63659839 63659839 single base substitution A T intron_variant CLLE-ES 5 63660075 63660075 single base substitution T C intron_variant CLLE-ES 5 63667299 63667299 single base substitution G A 3_prime_UTR_variant CLLE-ES 5 63667853 63667853 single base substitution A C 3_prime_UTR_variant COAD-US 5 63496666 63496666 single base substitution A C missense_variant N11T 32A>C COAD-US 5 63509514 63509514 single base substitution G T downstream_gene_variant COAD-US 5 63509514 63509514 single base substitution G T intron_variant COAD-US 5 63509514 63509514 single base substitution G T missense_variant D121Y 361G>T COAD-US 5 63509763 63509763 single base substitution G T downstream_gene_variant COAD-US 5 63509763 63509763 single base substitution G T intron_variant COAD-US 5 63509763 63509763 single base substitution G T stop_gained E204* 610G>T COAD-US 5 63509814 63509814 single base substitution A G downstream_gene_variant COAD-US 5 63509814 63509814 single base substitution A G intron_variant COAD-US 5 63509814 63509814 single base substitution A G missense_variant T221A 661A>G COAD-US 5 63509923 63509923 single base substitution G A downstream_gene_variant COAD-US 5 63509923 63509923 single base substitution G A intron_variant COAD-US 5 63509923 63509923 single base substitution G A missense_variant R257K 770G>A COAD-US 5 63510248 63510248 single base substitution G A downstream_gene_variant COAD-US 5 63510248 63510248 single base substitution G A intron_variant COAD-US 5 63510248 63510248 single base substitution G A synonymous_variant L365L 1095G>A COAD-US 5 63626215 63626215 single base substitution G T missense_variant A521S 1561G>T COAD-US 5 63626221 63626221 single base substitution C A missense_variant H523N 1567C>A COAD-US 5 63665531 63665531 single base substitution C T missense_variant R557C 1669C>T COCA-CN 5 63457576 63457576 single base substitution C T upstream_gene_variant COCA-CN 5 63471622 63471622 single base substitution A T intron_variant COCA-CN 5 63483972 63483972 single base substitution T C intron_variant COCA-CN 5 63507891 63507891 single base substitution G T splice_acceptor_variant COCA-CN 5 63510209 63510209 single base substitution C T downstream_gene_variant COCA-CN 5 63510209 63510209 single base substitution C T intron_variant COCA-CN 5 63510209 63510209 single base substitution C T synonymous_variant L352L 1056C>T COCA-CN 5 63512334 63512334 single base substitution T C downstream_gene_variant COCA-CN 5 63512334 63512334 single base substitution T C intron_variant COCA-CN 5 63516261 63516261 single base substitution T G downstream_gene_variant COCA-CN 5 63516261 63516261 single base substitution T G intron_variant COCA-CN 5 63521901 63521901 single base substitution G A intron_variant COCA-CN 5 63524029 63524029 single base substitution T C intron_variant COCA-CN 5 63542480 63542480 single base substitution T C intron_variant COCA-CN 5 63573023 63573023 single base substitution A G intron_variant COCA-CN 5 63612112 63612112 single base substitution A G intron_variant COCA-CN 5 63616606 63616606 single base substitution C T intron_variant COCA-CN 5 63625143 63625143 single base substitution C G intron_variant COCA-CN 5 63626335 63626335 single base substitution T A intron_variant COCA-CN 5 63642299 63642299 single base substitution T C intron_variant COCA-CN 5 63643003 63643003 single base substitution G T intron_variant COCA-CN 5 63648123 63648123 single base substitution C T intron_variant COCA-CN 5 63653228 63653228 single base substitution G A intron_variant COCA-CN 5 63653632 63653632 single base substitution G A intron_variant COCA-CN 5 63665561 63665561 single base substitution A G missense_variant I567V 1699A>G COCA-CN 5 63670887 63670887 single base substitution G T downstream_gene_variant EOPC-DE 5 63496034 63496034 single base substitution G A intron_variant EOPC-DE 5 63522685 63522685 single base substitution G A intron_variant EOPC-DE 5 63536190 63536190 single base substitution A G intron_variant EOPC-DE 5 63584782 63584782 single base substitution C A intron_variant EOPC-DE 5 63634804 63634804 single base substitution A G intron_variant ESAD-UK 5 63456898 63456898 single base substitution G T upstream_gene_variant ESAD-UK 5 63457667 63457667 single base substitution T G upstream_gene_variant ESAD-UK 5 63458004 63458004 single base substitution A G upstream_gene_variant ESAD-UK 5 63458089 63458089 single base substitution C T upstream_gene_variant ESAD-UK 5 63458369 63458369 single base substitution G A upstream_gene_variant ESAD-UK 5 63458544 63458544 single base substitution A T upstream_gene_variant ESAD-UK 5 63459068 63459068 single base substitution A C upstream_gene_variant ESAD-UK 5 63460019 63460019 single base substitution T G upstream_gene_variant ESAD-UK 5 63460148 63460148 single base substitution A C upstream_gene_variant ESAD-UK 5 63461002 63461002 single base substitution G A upstream_gene_variant ESAD-UK 5 63461687 63461687 single base substitution G A 5_prime_UTR_variant ESAD-UK 5 63461687 63461687 single base substitution G A upstream_gene_variant ESAD-UK 5 63461744 63461744 single base substitution G A 5_prime_UTR_variant ESAD-UK 5 63461744 63461744 single base substitution G A upstream_gene_variant ESAD-UK 5 63461767 63461767 single base substitution G T 5_prime_UTR_variant ESAD-UK 5 63461767 63461767 single base substitution G T upstream_gene_variant ESAD-UK 5 63461793 63461793 single base substitution G A intron_variant ESAD-UK 5 63461793 63461793 single base substitution G A upstream_gene_variant ESAD-UK 5 63463387 63463387 single base substitution A C intron_variant ESAD-UK 5 63463566 63463566 single base substitution A C intron_variant ESAD-UK 5 63463755 63463755 single base substitution A C intron_variant ESAD-UK 5 63463892 63463892 single base substitution T G intron_variant ESAD-UK 5 63464329 63464329 single base substitution T C intron_variant ESAD-UK 5 63464746 63464746 single base substitution G A intron_variant ESAD-UK 5 63464806 63464806 single base substitution T G intron_variant ESAD-UK 5 63465077 63465077 single base substitution T A intron_variant ESAD-UK 5 63465133 63465133 single base substitution T G intron_variant ESAD-UK 5 63465565 63465565 single base substitution T C intron_variant ESAD-UK 5 63465776 63465776 single base substitution T C intron_variant ESAD-UK 5 63465881 63465881 single base substitution A C intron_variant ESAD-UK 5 63466402 63466402 single base substitution G A intron_variant ESAD-UK 5 63466512 63466512 single base substitution C G intron_variant ESAD-UK 5 63466522 63466522 single base substitution T G intron_variant ESAD-UK 5 63466573 63466573 single base substitution A T intron_variant ESAD-UK 5 63466596 63466596 single base substitution G T intron_variant ESAD-UK 5 63466624 63466624 single base substitution A G intron_variant ESAD-UK 5 63466909 63466909 single base substitution A C intron_variant ESAD-UK 5 63466952 63466952 single base substitution A G intron_variant ESAD-UK 5 63467058 63467058 single base substitution G C intron_variant ESAD-UK 5 63467367 63467367 single base substitution A G intron_variant ESAD-UK 5 63467391 63467391 single base substitution A C intron_variant ESAD-UK 5 63467475 63467475 single base substitution T C intron_variant ESAD-UK 5 63467475 63467475 single base substitution T G intron_variant ESAD-UK 5 63467476 63467476 single base substitution T G intron_variant ESAD-UK 5 63467675 63467675 single base substitution C A intron_variant ESAD-UK 5 63467713 63467713 single base substitution A C intron_variant ESAD-UK 5 63467914 63467914 single base substitution T G intron_variant ESAD-UK 5 63468375 63468375 single base substitution A C intron_variant ESAD-UK 5 63468627 63468627 single base substitution G T intron_variant ESAD-UK 5 63468960 63468960 single base substitution C A intron_variant ESAD-UK 5 63469084 63469084 single base substitution T A intron_variant ESAD-UK 5 63469822 63469822 single base substitution T C intron_variant ESAD-UK 5 63469971 63469971 deletion of <=200bp T - intron_variant ESAD-UK 5 63470464 63470464 single base substitution T C intron_variant ESAD-UK 5 63470470 63470470 single base substitution T C intron_variant ESAD-UK 5 63470611 63470611 single base substitution T C intron_variant ESAD-UK 5 63471194 63471194 single base substitution A G intron_variant ESAD-UK 5 63471199 63471199 single base substitution A C intron_variant ESAD-UK 5 63471307 63471307 single base substitution T A intron_variant ESAD-UK 5 63471308 63471308 single base substitution C T intron_variant ESAD-UK 5 63471413 63471413 single base substitution T G intron_variant ESAD-UK 5 63471681 63471681 single base substitution T A intron_variant ESAD-UK 5 63472206 63472206 single base substitution T G intron_variant ESAD-UK 5 63472422 63472422 single base substitution G T intron_variant ESAD-UK 5 63472789 63472789 single base substitution A G intron_variant ESAD-UK 5 63472853 63472853 single base substitution T A intron_variant ESAD-UK 5 63472899 63472899 single base substitution G C intron_variant ESAD-UK 5 63473391 63473391 insertion of <=200bp - TATATATG intron_variant ESAD-UK 5 63473648 63473648 single base substitution A C intron_variant ESAD-UK 5 63473740 63473740 single base substitution A C intron_variant ESAD-UK 5 63474152 63474152 single base substitution C A intron_variant ESAD-UK 5 63474479 63474479 single base substitution T A intron_variant ESAD-UK 5 63474779 63474779 single base substitution A C intron_variant ESAD-UK 5 63474814 63474814 single base substitution A T intron_variant ESAD-UK 5 63476074 63476074 insertion of <=200bp - T intron_variant ESAD-UK 5 63476750 63476750 single base substitution A C intron_variant ESAD-UK 5 63476910 63476910 single base substitution G T intron_variant ESAD-UK 5 63476951 63476951 single base substitution C T intron_variant ESAD-UK 5 63478517 63478517 single base substitution G C intron_variant ESAD-UK 5 63478828 63478828 single base substitution C T intron_variant ESAD-UK 5 63479122 63479122 single base substitution A C intron_variant ESAD-UK 5 63479587 63479587 insertion of <=200bp - T intron_variant ESAD-UK 5 63480033 63480033 single base substitution A G intron_variant ESAD-UK 5 63480202 63480202 deletion of <=200bp T - intron_variant ESAD-UK 5 63480271 63480271 single base substitution T C intron_variant ESAD-UK 5 63480454 63480454 single base substitution A G intron_variant ESAD-UK 5 63480538 63480538 single base substitution A C intron_variant ESAD-UK 5 63481411 63481411 single base substitution G T intron_variant ESAD-UK 5 63481543 63481543 single base substitution C T intron_variant ESAD-UK 5 63481625 63481625 single base substitution A C intron_variant ESAD-UK 5 63481723 63481723 deletion of <=200bp A - intron_variant ESAD-UK 5 63481882 63481882 single base substitution T G intron_variant ESAD-UK 5 63482272 63482272 single base substitution T A intron_variant ESAD-UK 5 63482317 63482317 single base substitution T G intron_variant ESAD-UK 5 63482337 63482337 single base substitution A C intron_variant ESAD-UK 5 63482398 63482398 single base substitution T C intron_variant ESAD-UK 5 63483404 63483404 single base substitution A C intron_variant ESAD-UK 5 63483835 63483835 single base substitution C T intron_variant ESAD-UK 5 63484197 63484197 single base substitution T C intron_variant ESAD-UK 5 63484959 63484959 single base substitution C A intron_variant ESAD-UK 5 63485182 63485182 single base substitution T A intron_variant ESAD-UK 5 63485182 63485182 single base substitution T G intron_variant ESAD-UK 5 63485533 63485533 single base substitution T G intron_variant ESAD-UK 5 63486234 63486234 single base substitution A G intron_variant ESAD-UK 5 63486745 63486745 single base substitution T C intron_variant ESAD-UK 5 63486760 63486760 single base substitution A C intron_variant ESAD-UK 5 63486760 63486760 single base substitution A G intron_variant ESAD-UK 5 63486821 63486821 single base substitution C T intron_variant ESAD-UK 5 63486841 63486841 single base substitution A G intron_variant ESAD-UK 5 63486906 63486906 single base substitution T G intron_variant ESAD-UK 5 63487423 63487423 insertion of <=200bp - T intron_variant ESAD-UK 5 63487733 63487733 single base substitution G T intron_variant ESAD-UK 5 63488044 63488044 single base substitution C G intron_variant ESAD-UK 5 63488113 63488113 single base substitution G C intron_variant ESAD-UK 5 63488456 63488456 single base substitution G A intron_variant ESAD-UK 5 63488860 63488860 single base substitution C A intron_variant ESAD-UK 5 63488949 63488949 single base substitution G T intron_variant ESAD-UK 5 63489017 63489017 single base substitution A G intron_variant ESAD-UK 5 63489202 63489202 single base substitution T A intron_variant ESAD-UK 5 63489303 63489303 single base substitution T G intron_variant ESAD-UK 5 63490760 63490760 single base substitution C A intron_variant ESAD-UK 5 63491259 63491259 deletion of <=200bp A - intron_variant ESAD-UK 5 63491593 63491593 single base substitution T G intron_variant ESAD-UK 5 63491654 63491654 single base substitution A C intron_variant ESAD-UK 5 63491738 63491738 single base substitution T C intron_variant ESAD-UK 5 63492117 63492117 single base substitution T C intron_variant ESAD-UK 5 63492685 63492685 single base substitution A C intron_variant ESAD-UK 5 63492824 63492824 single base substitution C T intron_variant ESAD-UK 5 63492867 63492867 single base substitution G T intron_variant ESAD-UK 5 63493528 63493528 single base substitution C G intron_variant ESAD-UK 5 63494072 63494072 single base substitution A C intron_variant ESAD-UK 5 63494791 63494791 single base substitution T G intron_variant ESAD-UK 5 63494812 63494812 single base substitution T C intron_variant ESAD-UK 5 63494813 63494813 single base substitution T G intron_variant ESAD-UK 5 63494861 63494861 single base substitution T G intron_variant ESAD-UK 5 63494949 63494949 single base substitution T G intron_variant ESAD-UK 5 63495082 63495082 single base substitution G T intron_variant ESAD-UK 5 63495487 63495487 single base substitution G A intron_variant ESAD-UK 5 63496104 63496104 insertion of <=200bp - A intron_variant ESAD-UK 5 63497693 63497693 single base substitution A C intron_variant ESAD-UK 5 63497693 63497693 single base substitution A T intron_variant ESAD-UK 5 63498516 63498516 single base substitution C G intron_variant ESAD-UK 5 63498773 63498773 single base substitution A C intron_variant ESAD-UK 5 63498778 63498778 single base substitution T A intron_variant ESAD-UK 5 63498838 63498838 single base substitution T G intron_variant ESAD-UK 5 63499256 63499256 single base substitution T G intron_variant ESAD-UK 5 63499636 63499636 single base substitution T C intron_variant ESAD-UK 5 63500755 63500755 single base substitution C T intron_variant ESAD-UK 5 63501754 63501754 single base substitution G T intron_variant ESAD-UK 5 63502114 63502114 single base substitution T G intron_variant ESAD-UK 5 63502437 63502437 single base substitution T G intron_variant ESAD-UK 5 63502959 63502959 single base substitution G C intron_variant ESAD-UK 5 63503394 63503394 single base substitution A C intron_variant ESAD-UK 5 63503708 63503708 single base substitution T G intron_variant ESAD-UK 5 63504488 63504488 single base substitution G C intron_variant ESAD-UK 5 63504860 63504860 single base substitution A T intron_variant ESAD-UK 5 63505022 63505022 single base substitution T G intron_variant ESAD-UK 5 63505428 63505428 single base substitution C T intron_variant ESAD-UK 5 63506043 63506043 single base substitution T G intron_variant ESAD-UK 5 63507108 63507108 single base substitution G A intron_variant ESAD-UK 5 63507706 63507706 single base substitution A C intron_variant ESAD-UK 5 63507806 63507806 single base substitution G T intron_variant ESAD-UK 5 63508007 63508007 single base substitution G A intron_variant ESAD-UK 5 63508432 63508432 single base substitution T C intron_variant ESAD-UK 5 63508462 63508462 single base substitution G A intron_variant ESAD-UK 5 63509565 63509565 single base substitution T G downstream_gene_variant ESAD-UK 5 63509565 63509565 single base substitution T G intron_variant ESAD-UK 5 63509565 63509565 single base substitution T G missense_variant L138V 412T>G ESAD-UK 5 63509836 63509836 single base substitution C G downstream_gene_variant ESAD-UK 5 63509836 63509836 single base substitution C G intron_variant ESAD-UK 5 63509836 63509836 single base substitution C G stop_gained S228* 683C>G ESAD-UK 5 63510357 63510357 deletion of <=200bp A - downstream_gene_variant ESAD-UK 5 63510357 63510357 deletion of <=200bp A - intron_variant ESAD-UK 5 63510415 63510415 single base substitution T G downstream_gene_variant ESAD-UK 5 63510415 63510415 single base substitution T G intron_variant ESAD-UK 5 63511483 63511483 single base substitution T G downstream_gene_variant ESAD-UK 5 63511483 63511483 single base substitution T G intron_variant ESAD-UK 5 63512050 63512050 single base substitution G T downstream_gene_variant ESAD-UK 5 63512050 63512050 single base substitution G T intron_variant ESAD-UK 5 63512181 63512181 single base substitution T G downstream_gene_variant ESAD-UK 5 63512181 63512181 single base substitution T G intron_variant ESAD-UK 5 63512810 63512810 single base substitution T A downstream_gene_variant ESAD-UK 5 63512810 63512810 single base substitution T A intron_variant ESAD-UK 5 63512979 63512979 single base substitution C T downstream_gene_variant ESAD-UK 5 63512979 63512979 single base substitution C T intron_variant ESAD-UK 5 63513132 63513132 single base substitution T G downstream_gene_variant ESAD-UK 5 63513132 63513132 single base substitution T G intron_variant ESAD-UK 5 63513712 63513712 single base substitution A G downstream_gene_variant ESAD-UK 5 63513712 63513712 single base substitution A G intron_variant ESAD-UK 5 63513773 63513773 deletion of <=200bp A - downstream_gene_variant ESAD-UK 5 63513773 63513773 deletion of <=200bp A - intron_variant ESAD-UK 5 63513903 63513903 single base substitution T C downstream_gene_variant ESAD-UK 5 63513903 63513903 single base substitution T C intron_variant ESAD-UK 5 63514079 63514079 single base substitution A G downstream_gene_variant ESAD-UK 5 63514079 63514079 single base substitution A G intron_variant ESAD-UK 5 63514597 63514597 single base substitution A G downstream_gene_variant ESAD-UK 5 63514597 63514597 single base substitution A G intron_variant ESAD-UK 5 63515312 63515312 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 63515312 63515312 deletion of <=200bp T - intron_variant ESAD-UK 5 63515532 63515532 single base substitution G C downstream_gene_variant ESAD-UK 5 63515532 63515532 single base substitution G C intron_variant ESAD-UK 5 63515571 63515571 single base substitution C A downstream_gene_variant ESAD-UK 5 63515571 63515571 single base substitution C A intron_variant ESAD-UK 5 63516302 63516302 single base substitution A G downstream_gene_variant ESAD-UK 5 63516302 63516302 single base substitution A G intron_variant ESAD-UK 5 63516905 63516905 single base substitution C T downstream_gene_variant ESAD-UK 5 63516905 63516905 single base substitution C T intron_variant ESAD-UK 5 63516971 63516971 single base substitution C A downstream_gene_variant ESAD-UK 5 63516971 63516971 single base substitution C A intron_variant ESAD-UK 5 63517142 63517142 single base substitution T C downstream_gene_variant ESAD-UK 5 63517142 63517142 single base substitution T C intron_variant ESAD-UK 5 63517142 63517142 single base substitution T G downstream_gene_variant ESAD-UK 5 63517142 63517142 single base substitution T G intron_variant ESAD-UK 5 63517153 63517153 single base substitution T G downstream_gene_variant ESAD-UK 5 63517153 63517153 single base substitution T G intron_variant ESAD-UK 5 63517215 63517215 single base substitution C T downstream_gene_variant ESAD-UK 5 63517215 63517215 single base substitution C T intron_variant ESAD-UK 5 63517770 63517770 single base substitution G C downstream_gene_variant ESAD-UK 5 63517770 63517770 single base substitution G C intron_variant ESAD-UK 5 63518138 63518138 single base substitution A C downstream_gene_variant ESAD-UK 5 63518138 63518138 single base substitution A C intron_variant ESAD-UK 5 63518173 63518173 single base substitution T G downstream_gene_variant ESAD-UK 5 63518173 63518173 single base substitution T G intron_variant ESAD-UK 5 63518363 63518363 single base substitution A C downstream_gene_variant ESAD-UK 5 63518363 63518363 single base substitution A C intron_variant ESAD-UK 5 63518550 63518550 single base substitution T G downstream_gene_variant ESAD-UK 5 63518550 63518550 single base substitution T G intron_variant ESAD-UK 5 63518587 63518587 single base substitution A G downstream_gene_variant ESAD-UK 5 63518587 63518587 single base substitution A G intron_variant ESAD-UK 5 63519154 63519154 single base substitution C A intron_variant ESAD-UK 5 63519167 63519167 single base substitution T G intron_variant ESAD-UK 5 63519288 63519288 single base substitution T G intron_variant ESAD-UK 5 63519411 63519411 single base substitution A G intron_variant ESAD-UK 5 63519806 63519806 single base substitution G C intron_variant ESAD-UK 5 63520266 63520266 single base substitution T G intron_variant ESAD-UK 5 63520941 63520941 single base substitution G A intron_variant ESAD-UK 5 63521268 63521268 single base substitution A G intron_variant ESAD-UK 5 63521278 63521278 single base substitution C T intron_variant ESAD-UK 5 63521859 63521859 single base substitution G T intron_variant ESAD-UK 5 63522589 63522589 single base substitution T C intron_variant ESAD-UK 5 63523099 63523099 single base substitution A C intron_variant ESAD-UK 5 63523460 63523460 single base substitution G A intron_variant ESAD-UK 5 63524092 63524092 single base substitution A T intron_variant ESAD-UK 5 63524559 63524559 single base substitution T A intron_variant ESAD-UK 5 63525058 63525058 single base substitution T C intron_variant ESAD-UK 5 63525193 63525193 single base substitution A G intron_variant ESAD-UK 5 63525204 63525204 single base substitution A C intron_variant ESAD-UK 5 63526384 63526384 single base substitution T G intron_variant ESAD-UK 5 63526398 63526398 single base substitution T A intron_variant ESAD-UK 5 63526398 63526398 single base substitution T G intron_variant ESAD-UK 5 63526738 63526738 single base substitution T A intron_variant ESAD-UK 5 63526938 63526938 single base substitution T G intron_variant ESAD-UK 5 63527251 63527251 single base substitution T G intron_variant ESAD-UK 5 63527292 63527292 single base substitution A G intron_variant ESAD-UK 5 63527688 63527688 single base substitution C T intron_variant ESAD-UK 5 63528199 63528199 single base substitution G T intron_variant ESAD-UK 5 63528775 63528775 single base substitution A C intron_variant ESAD-UK 5 63528775 63528775 single base substitution A G intron_variant ESAD-UK 5 63529094 63529094 single base substitution T G intron_variant ESAD-UK 5 63529142 63529142 single base substitution A C intron_variant ESAD-UK 5 63529514 63529514 single base substitution T A intron_variant ESAD-UK 5 63529772 63529772 single base substitution T G intron_variant ESAD-UK 5 63530208 63530208 single base substitution G A intron_variant ESAD-UK 5 63530869 63530869 single base substitution C A intron_variant ESAD-UK 5 63531286 63531286 single base substitution A G intron_variant ESAD-UK 5 63531605 63531605 single base substitution A T intron_variant ESAD-UK 5 63532401 63532401 single base substitution T G intron_variant ESAD-UK 5 63532776 63532776 single base substitution G T intron_variant ESAD-UK 5 63533041 63533041 single base substitution A C intron_variant ESAD-UK 5 63536155 63536155 single base substitution T G intron_variant ESAD-UK 5 63536256 63536256 single base substitution A G intron_variant ESAD-UK 5 63536568 63536568 single base substitution A C intron_variant ESAD-UK 5 63536594 63536594 single base substitution A C intron_variant ESAD-UK 5 63536790 63536790 single base substitution A T intron_variant ESAD-UK 5 63536791 63536791 single base substitution A C intron_variant ESAD-UK 5 63536791 63536791 single base substitution A G intron_variant ESAD-UK 5 63537022 63537022 single base substitution C A intron_variant ESAD-UK 5 63537213 63537213 single base substitution G T intron_variant ESAD-UK 5 63537782 63537782 single base substitution C A intron_variant ESAD-UK 5 63538039 63538039 single base substitution T G intron_variant ESAD-UK 5 63538386 63538386 single base substitution A C intron_variant ESAD-UK 5 63539109 63539109 single base substitution A C intron_variant ESAD-UK 5 63539374 63539374 single base substitution T C intron_variant ESAD-UK 5 63539473 63539473 single base substitution G T intron_variant ESAD-UK 5 63539931 63539931 single base substitution C T intron_variant ESAD-UK 5 63539982 63539982 single base substitution A G intron_variant ESAD-UK 5 63540085 63540085 single base substitution A C intron_variant ESAD-UK 5 63540547 63540547 single base substitution A T intron_variant ESAD-UK 5 63541009 63541009 single base substitution T C intron_variant ESAD-UK 5 63541778 63541778 single base substitution A G intron_variant ESAD-UK 5 63541784 63541784 single base substitution T C intron_variant ESAD-UK 5 63541985 63541985 single base substitution G T intron_variant ESAD-UK 5 63542207 63542207 single base substitution G C intron_variant ESAD-UK 5 63542498 63542498 single base substitution C T intron_variant ESAD-UK 5 63542542 63542542 single base substitution T A intron_variant ESAD-UK 5 63543547 63543547 single base substitution A T intron_variant ESAD-UK 5 63543643 63543643 single base substitution A G intron_variant ESAD-UK 5 63543684 63543684 single base substitution C A intron_variant ESAD-UK 5 63543722 63543722 single base substitution T A intron_variant ESAD-UK 5 63543958 63543958 single base substitution G A intron_variant ESAD-UK 5 63544188 63544188 single base substitution G A intron_variant ESAD-UK 5 63544363 63544363 single base substitution C A intron_variant ESAD-UK 5 63544949 63544949 single base substitution A T intron_variant ESAD-UK 5 63546119 63546119 single base substitution A C intron_variant ESAD-UK 5 63546324 63546324 single base substitution A G intron_variant ESAD-UK 5 63546417 63546417 single base substitution A T intron_variant ESAD-UK 5 63546538 63546538 single base substitution T C intron_variant ESAD-UK 5 63546543 63546543 single base substitution A C intron_variant ESAD-UK 5 63546894 63546894 single base substitution T C intron_variant ESAD-UK 5 63547064 63547064 single base substitution C T intron_variant ESAD-UK 5 63547114 63547114 single base substitution G T intron_variant ESAD-UK 5 63547337 63547337 single base substitution A C intron_variant ESAD-UK 5 63547418 63547418 single base substitution T G intron_variant ESAD-UK 5 63547568 63547568 single base substitution A C intron_variant ESAD-UK 5 63548128 63548128 single base substitution A G intron_variant ESAD-UK 5 63548752 63548752 single base substitution C T intron_variant ESAD-UK 5 63548785 63548785 single base substitution T A intron_variant ESAD-UK 5 63549142 63549142 single base substitution T A intron_variant ESAD-UK 5 63549591 63549591 single base substitution T G intron_variant ESAD-UK 5 63549987 63549987 single base substitution C A intron_variant ESAD-UK 5 63550360 63550360 single base substitution T A intron_variant ESAD-UK 5 63550874 63550874 single base substitution T A intron_variant ESAD-UK 5 63550932 63550932 single base substitution T A intron_variant ESAD-UK 5 63551031 63551031 single base substitution T G intron_variant ESAD-UK 5 63553639 63553639 single base substitution T C intron_variant ESAD-UK 5 63553941 63553941 single base substitution A C intron_variant ESAD-UK 5 63554033 63554033 single base substitution T G intron_variant ESAD-UK 5 63554186 63554186 single base substitution A T intron_variant ESAD-UK 5 63554480 63554480 single base substitution G T intron_variant ESAD-UK 5 63555039 63555039 single base substitution A G intron_variant ESAD-UK 5 63555313 63555313 single base substitution A C intron_variant ESAD-UK 5 63555406 63555406 single base substitution C A intron_variant ESAD-UK 5 63555938 63555938 single base substitution C T intron_variant ESAD-UK 5 63556124 63556124 single base substitution C T intron_variant ESAD-UK 5 63556145 63556145 single base substitution A T intron_variant ESAD-UK 5 63556155 63556155 single base substitution C A intron_variant ESAD-UK 5 63557267 63557267 single base substitution T G intron_variant ESAD-UK 5 63557859 63557859 single base substitution T G intron_variant ESAD-UK 5 63558126 63558126 single base substitution G A intron_variant ESAD-UK 5 63558830 63558830 single base substitution C G intron_variant ESAD-UK 5 63558858 63558858 single base substitution G T intron_variant ESAD-UK 5 63558874 63558874 single base substitution A C intron_variant ESAD-UK 5 63559422 63559422 single base substitution A C intron_variant ESAD-UK 5 63559654 63559654 single base substitution C T intron_variant ESAD-UK 5 63559894 63559894 single base substitution A G intron_variant ESAD-UK 5 63560039 63560039 single base substitution A G intron_variant ESAD-UK 5 63560221 63560221 single base substitution C T intron_variant ESAD-UK 5 63560661 63560661 single base substitution T C intron_variant ESAD-UK 5 63561069 63561069 single base substitution T G intron_variant ESAD-UK 5 63561164 63561164 single base substitution T G intron_variant ESAD-UK 5 63561225 63561225 single base substitution T G intron_variant ESAD-UK 5 63561233 63561233 single base substitution A C intron_variant ESAD-UK 5 63561380 63561380 single base substitution T C intron_variant ESAD-UK 5 63561555 63561555 single base substitution T G intron_variant ESAD-UK 5 63561639 63561639 single base substitution C A intron_variant ESAD-UK 5 63562395 63562395 single base substitution A C intron_variant ESAD-UK 5 63562926 63562926 single base substitution A C intron_variant ESAD-UK 5 63563020 63563020 single base substitution T G intron_variant ESAD-UK 5 63564681 63564681 single base substitution C T intron_variant ESAD-UK 5 63564872 63564872 single base substitution T C intron_variant ESAD-UK 5 63565585 63565585 single base substitution G T intron_variant ESAD-UK 5 63565755 63565755 single base substitution G T intron_variant ESAD-UK 5 63565781 63565781 single base substitution C A intron_variant ESAD-UK 5 63565783 63565783 single base substitution A C intron_variant ESAD-UK 5 63566137 63566137 single base substitution C A intron_variant ESAD-UK 5 63566785 63566785 single base substitution T C intron_variant ESAD-UK 5 63567374 63567374 single base substitution A C intron_variant ESAD-UK 5 63567638 63567638 single base substitution T G intron_variant ESAD-UK 5 63568784 63568784 deletion of <=200bp A - intron_variant ESAD-UK 5 63569124 63569124 single base substitution T A intron_variant ESAD-UK 5 63569152 63569152 single base substitution A C intron_variant ESAD-UK 5 63569219 63569219 single base substitution T G intron_variant ESAD-UK 5 63570229 63570229 single base substitution C G intron_variant ESAD-UK 5 63570509 63570509 single base substitution T A intron_variant ESAD-UK 5 63570546 63570546 single base substitution C A intron_variant ESAD-UK 5 63570754 63570754 single base substitution A T intron_variant ESAD-UK 5 63570976 63570976 single base substitution A T intron_variant ESAD-UK 5 63570977 63570977 single base substitution G T intron_variant ESAD-UK 5 63571119 63571119 single base substitution A C intron_variant ESAD-UK 5 63571522 63571522 single base substitution A C intron_variant ESAD-UK 5 63571564 63571564 single base substitution A C intron_variant ESAD-UK 5 63572564 63572564 single base substitution A G intron_variant ESAD-UK 5 63572579 63572579 single base substitution T G intron_variant ESAD-UK 5 63572755 63572755 single base substitution T G intron_variant ESAD-UK 5 63573017 63573017 single base substitution A G intron_variant ESAD-UK 5 63573238 63573238 single base substitution A C intron_variant ESAD-UK 5 63573258 63573258 single base substitution T A intron_variant ESAD-UK 5 63573423 63573423 single base substitution G T intron_variant ESAD-UK 5 63573436 63573436 single base substitution T G intron_variant ESAD-UK 5 63573662 63573662 single base substitution G T intron_variant ESAD-UK 5 63574926 63574926 single base substitution A G intron_variant ESAD-UK 5 63574976 63574976 single base substitution A C intron_variant ESAD-UK 5 63575027 63575027 single base substitution A C intron_variant ESAD-UK 5 63575745 63575745 single base substitution C G intron_variant ESAD-UK 5 63575879 63575879 single base substitution T G intron_variant ESAD-UK 5 63575950 63575950 single base substitution T G intron_variant ESAD-UK 5 63576248 63576248 single base substitution T C intron_variant ESAD-UK 5 63576605 63576605 single base substitution T A intron_variant ESAD-UK 5 63577046 63577046 deletion of <=200bp T - intron_variant ESAD-UK 5 63577152 63577152 single base substitution T G intron_variant ESAD-UK 5 63577381 63577381 single base substitution A G intron_variant ESAD-UK 5 63578476 63578476 insertion of <=200bp - T intron_variant ESAD-UK 5 63578585 63578585 single base substitution T G intron_variant ESAD-UK 5 63578623 63578623 single base substitution T G intron_variant ESAD-UK 5 63578633 63578633 single base substitution A G intron_variant ESAD-UK 5 63578709 63578709 single base substitution T G intron_variant ESAD-UK 5 63578745 63578745 single base substitution G A intron_variant ESAD-UK 5 63578927 63578927 single base substitution G T intron_variant ESAD-UK 5 63579151 63579151 single base substitution G T intron_variant ESAD-UK 5 63579446 63579446 single base substitution T A intron_variant ESAD-UK 5 63579516 63579516 single base substitution T C intron_variant ESAD-UK 5 63580130 63580130 single base substitution G C intron_variant ESAD-UK 5 63580331 63580331 single base substitution T A intron_variant ESAD-UK 5 63580566 63580566 single base substitution A T intron_variant ESAD-UK 5 63580727 63580727 single base substitution T C intron_variant ESAD-UK 5 63580851 63580851 single base substitution C A intron_variant ESAD-UK 5 63581341 63581341 single base substitution G T intron_variant ESAD-UK 5 63581735 63581735 single base substitution A C intron_variant ESAD-UK 5 63581796 63581796 single base substitution T G intron_variant ESAD-UK 5 63581813 63581813 single base substitution A G intron_variant ESAD-UK 5 63581918 63581918 single base substitution C A intron_variant ESAD-UK 5 63581961 63581961 single base substitution A G intron_variant ESAD-UK 5 63581965 63581965 single base substitution T A intron_variant ESAD-UK 5 63582480 63582480 single base substitution G A intron_variant ESAD-UK 5 63582600 63582600 single base substitution A T intron_variant ESAD-UK 5 63583282 63583282 single base substitution T G intron_variant ESAD-UK 5 63583839 63583839 single base substitution T A intron_variant ESAD-UK 5 63584263 63584263 single base substitution G T intron_variant ESAD-UK 5 63584608 63584608 single base substitution A C intron_variant ESAD-UK 5 63585661 63585661 single base substitution C A intron_variant ESAD-UK 5 63585681 63585681 deletion of <=200bp T - intron_variant ESAD-UK 5 63585681 63585681 insertion of <=200bp - T intron_variant ESAD-UK 5 63586117 63586117 single base substitution T G intron_variant ESAD-UK 5 63586339 63586339 single base substitution A G intron_variant ESAD-UK 5 63587422 63587422 single base substitution T G intron_variant ESAD-UK 5 63587786 63587786 single base substitution T A intron_variant ESAD-UK 5 63587796 63587796 single base substitution T G intron_variant ESAD-UK 5 63587960 63587960 single base substitution A G intron_variant ESAD-UK 5 63588234 63588234 single base substitution T C intron_variant ESAD-UK 5 63589151 63589151 single base substitution A C intron_variant ESAD-UK 5 63589503 63589503 single base substitution T G intron_variant ESAD-UK 5 63589709 63589709 single base substitution G A intron_variant ESAD-UK 5 63589791 63589791 single base substitution A C intron_variant ESAD-UK 5 63589845 63589845 single base substitution C T intron_variant ESAD-UK 5 63589864 63589864 single base substitution A C intron_variant ESAD-UK 5 63589883 63589883 single base substitution A C intron_variant ESAD-UK 5 63589919 63589919 single base substitution T A intron_variant ESAD-UK 5 63590517 63590517 single base substitution T A intron_variant ESAD-UK 5 63590928 63590928 single base substitution A G intron_variant ESAD-UK 5 63591004 63591004 single base substitution A C intron_variant ESAD-UK 5 63591562 63591562 single base substitution T G intron_variant ESAD-UK 5 63592174 63592174 single base substitution T G intron_variant ESAD-UK 5 63592236 63592236 single base substitution T C intron_variant ESAD-UK 5 63592323 63592323 single base substitution A C intron_variant ESAD-UK 5 63592369 63592369 single base substitution A C intron_variant ESAD-UK 5 63592681 63592681 single base substitution T C intron_variant ESAD-UK 5 63592702 63592702 single base substitution T A intron_variant ESAD-UK 5 63593097 63593097 single base substitution T G intron_variant ESAD-UK 5 63593292 63593292 single base substitution T G intron_variant ESAD-UK 5 63593540 63593540 single base substitution G A intron_variant ESAD-UK 5 63593744 63593744 single base substitution G T intron_variant ESAD-UK 5 63593917 63593917 single base substitution C A intron_variant ESAD-UK 5 63593962 63593962 single base substitution C T intron_variant ESAD-UK 5 63594194 63594194 single base substitution G C intron_variant ESAD-UK 5 63594983 63594983 single base substitution G A intron_variant ESAD-UK 5 63595131 63595131 single base substitution T G intron_variant ESAD-UK 5 63595269 63595269 single base substitution T C intron_variant ESAD-UK 5 63595477 63595477 single base substitution A C intron_variant ESAD-UK 5 63595544 63595544 single base substitution T C intron_variant ESAD-UK 5 63596147 63596147 single base substitution A C intron_variant ESAD-UK 5 63596373 63596373 single base substitution T G intron_variant ESAD-UK 5 63596797 63596797 single base substitution A C intron_variant ESAD-UK 5 63597118 63597118 single base substitution T G intron_variant ESAD-UK 5 63597694 63597694 single base substitution C T intron_variant ESAD-UK 5 63597717 63597717 single base substitution A G intron_variant ESAD-UK 5 63597732 63597732 single base substitution T G intron_variant ESAD-UK 5 63598289 63598289 single base substitution T C intron_variant ESAD-UK 5 63598321 63598321 single base substitution A G intron_variant ESAD-UK 5 63598391 63598391 single base substitution A C intron_variant ESAD-UK 5 63598559 63598559 single base substitution A T intron_variant ESAD-UK 5 63598611 63598611 single base substitution C A intron_variant ESAD-UK 5 63598633 63598633 single base substitution T G intron_variant ESAD-UK 5 63598748 63598748 single base substitution T G intron_variant ESAD-UK 5 63599219 63599219 single base substitution A C intron_variant ESAD-UK 5 63600437 63600455 deletion of <=200bp AATCTCATGATACAATTTG - intron_variant ESAD-UK 5 63600530 63600530 single base substitution A C intron_variant ESAD-UK 5 63600632 63600632 single base substitution A C intron_variant ESAD-UK 5 63600682 63600682 single base substitution A C intron_variant ESAD-UK 5 63600720 63600720 single base substitution T C intron_variant ESAD-UK 5 63601164 63601164 single base substitution A C intron_variant ESAD-UK 5 63601364 63601364 single base substitution T G intron_variant ESAD-UK 5 63601654 63601654 single base substitution A G intron_variant ESAD-UK 5 63601703 63601703 single base substitution A C intron_variant ESAD-UK 5 63603868 63603868 single base substitution G A intron_variant ESAD-UK 5 63604042 63604042 single base substitution C T intron_variant ESAD-UK 5 63604153 63604153 single base substitution T C intron_variant ESAD-UK 5 63605342 63605342 single base substitution A C intron_variant ESAD-UK 5 63605922 63605922 single base substitution T G intron_variant ESAD-UK 5 63605990 63605990 single base substitution A G intron_variant ESAD-UK 5 63606866 63606866 single base substitution A C intron_variant ESAD-UK 5 63607258 63607258 single base substitution T C intron_variant ESAD-UK 5 63607485 63607485 single base substitution G A intron_variant ESAD-UK 5 63607596 63607596 single base substitution C G intron_variant ESAD-UK 5 63607804 63607804 single base substitution G C intron_variant ESAD-UK 5 63608118 63608118 single base substitution G A intron_variant ESAD-UK 5 63608206 63608206 single base substitution A T intron_variant ESAD-UK 5 63608837 63608837 single base substitution A C intron_variant ESAD-UK 5 63609090 63609090 single base substitution G T intron_variant ESAD-UK 5 63609296 63609296 single base substitution G A intron_variant ESAD-UK 5 63609756 63609756 single base substitution G T intron_variant ESAD-UK 5 63610077 63610077 single base substitution T A intron_variant ESAD-UK 5 63610387 63610387 single base substitution A T intron_variant ESAD-UK 5 63610749 63610749 single base substitution T C intron_variant ESAD-UK 5 63611513 63611513 single base substitution A C intron_variant ESAD-UK 5 63611543 63611543 single base substitution A T intron_variant ESAD-UK 5 63611648 63611648 single base substitution T G intron_variant ESAD-UK 5 63613501 63613501 single base substitution G T intron_variant ESAD-UK 5 63614142 63614142 single base substitution G A intron_variant ESAD-UK 5 63614908 63614908 single base substitution A C intron_variant ESAD-UK 5 63615224 63615224 single base substitution T C intron_variant ESAD-UK 5 63615865 63615865 single base substitution A G intron_variant ESAD-UK 5 63615951 63615951 single base substitution T A intron_variant ESAD-UK 5 63616488 63616488 single base substitution T G intron_variant ESAD-UK 5 63616516 63616516 single base substitution A G intron_variant ESAD-UK 5 63616684 63616684 single base substitution T C intron_variant ESAD-UK 5 63616815 63616815 single base substitution A T intron_variant ESAD-UK 5 63617028 63617028 single base substitution G A intron_variant ESAD-UK 5 63617616 63617616 single base substitution A C intron_variant ESAD-UK 5 63618218 63618218 single base substitution A T intron_variant ESAD-UK 5 63618762 63618762 single base substitution T C intron_variant ESAD-UK 5 63619259 63619259 single base substitution T A intron_variant ESAD-UK 5 63619528 63619528 single base substitution G C intron_variant ESAD-UK 5 63619917 63619917 single base substitution C G intron_variant ESAD-UK 5 63620503 63620503 single base substitution T G intron_variant ESAD-UK 5 63620721 63620721 single base substitution A G intron_variant ESAD-UK 5 63620766 63620766 single base substitution T G intron_variant ESAD-UK 5 63621060 63621060 single base substitution A C missense_variant E425D 1275A>C ESAD-UK 5 63621104 63621104 single base substitution T C missense_variant F440S 1319T>C ESAD-UK 5 63622178 63622178 single base substitution T G intron_variant ESAD-UK 5 63622288 63622288 single base substitution A G intron_variant ESAD-UK 5 63622496 63622496 single base substitution C T intron_variant ESAD-UK 5 63622682 63622682 deletion of <=200bp T - intron_variant ESAD-UK 5 63622690 63622690 single base substitution A T intron_variant ESAD-UK 5 63623256 63623256 single base substitution T G intron_variant ESAD-UK 5 63623608 63623608 single base substitution A C intron_variant ESAD-UK 5 63623701 63623701 single base substitution A C intron_variant ESAD-UK 5 63623702 63623702 single base substitution A T intron_variant ESAD-UK 5 63624087 63624087 single base substitution T G intron_variant ESAD-UK 5 63624258 63624258 single base substitution A C intron_variant ESAD-UK 5 63624370 63624370 single base substitution C G intron_variant ESAD-UK 5 63624555 63624555 single base substitution A C intron_variant ESAD-UK 5 63625173 63625173 single base substitution C T intron_variant ESAD-UK 5 63625520 63625520 single base substitution A G intron_variant ESAD-UK 5 63625908 63625908 single base substitution A T intron_variant ESAD-UK 5 63626050 63626050 single base substitution T G intron_variant ESAD-UK 5 63626559 63626559 single base substitution C G intron_variant ESAD-UK 5 63626733 63626733 single base substitution G A intron_variant ESAD-UK 5 63627201 63627201 single base substitution T G intron_variant ESAD-UK 5 63627464 63627464 single base substitution T G intron_variant ESAD-UK 5 63627687 63627687 deletion of <=200bp T - intron_variant ESAD-UK 5 63628216 63628216 single base substitution A G intron_variant ESAD-UK 5 63628941 63628941 single base substitution A T intron_variant ESAD-UK 5 63629043 63629043 single base substitution C G intron_variant ESAD-UK 5 63629352 63629352 single base substitution A C intron_variant ESAD-UK 5 63629352 63629352 single base substitution A G intron_variant ESAD-UK 5 63629971 63629971 single base substitution A T intron_variant ESAD-UK 5 63630060 63630060 single base substitution A C intron_variant ESAD-UK 5 63630190 63630190 single base substitution T G intron_variant ESAD-UK 5 63630239 63630239 single base substitution T G intron_variant ESAD-UK 5 63630308 63630308 single base substitution C T intron_variant ESAD-UK 5 63631123 63631123 single base substitution T G intron_variant ESAD-UK 5 63631516 63631516 single base substitution A G intron_variant ESAD-UK 5 63631540 63631540 single base substitution T G intron_variant ESAD-UK 5 63632019 63632019 single base substitution T A intron_variant ESAD-UK 5 63632627 63632627 deletion of <=200bp T - intron_variant ESAD-UK 5 63633003 63633003 single base substitution G T intron_variant ESAD-UK 5 63633338 63633338 single base substitution T C intron_variant ESAD-UK 5 63634188 63634188 single base substitution G A intron_variant ESAD-UK 5 63634257 63634257 single base substitution C A intron_variant ESAD-UK 5 63634322 63634322 single base substitution C A intron_variant ESAD-UK 5 63634344 63634344 single base substitution C G intron_variant ESAD-UK 5 63634371 63634371 single base substitution A G intron_variant ESAD-UK 5 63634893 63634893 single base substitution T C intron_variant ESAD-UK 5 63635216 63635216 single base substitution T C intron_variant ESAD-UK 5 63635629 63635629 single base substitution T C intron_variant ESAD-UK 5 63635629 63635629 single base substitution T G intron_variant ESAD-UK 5 63635821 63635821 single base substitution A T intron_variant ESAD-UK 5 63636041 63636041 single base substitution A C intron_variant ESAD-UK 5 63636408 63636408 single base substitution A C intron_variant ESAD-UK 5 63636964 63636964 single base substitution A C intron_variant ESAD-UK 5 63636987 63636987 single base substitution T C intron_variant ESAD-UK 5 63636987 63636987 single base substitution T G intron_variant ESAD-UK 5 63637174 63637174 deletion of <=200bp T - intron_variant ESAD-UK 5 63637422 63637422 single base substitution A C intron_variant ESAD-UK 5 63638076 63638076 single base substitution A G intron_variant ESAD-UK 5 63638200 63638200 single base substitution C G intron_variant ESAD-UK 5 63638693 63638693 single base substitution A C intron_variant ESAD-UK 5 63639244 63639244 single base substitution A C intron_variant ESAD-UK 5 63639426 63639426 single base substitution A C intron_variant ESAD-UK 5 63639663 63639663 single base substitution A G intron_variant ESAD-UK 5 63640080 63640080 insertion of <=200bp - TA intron_variant ESAD-UK 5 63640656 63640656 single base substitution C T intron_variant ESAD-UK 5 63640669 63640669 single base substitution T G intron_variant ESAD-UK 5 63641186 63641186 single base substitution T G intron_variant ESAD-UK 5 63641252 63641252 single base substitution T C intron_variant ESAD-UK 5 63641753 63641753 single base substitution A T intron_variant ESAD-UK 5 63642521 63642521 single base substitution G A intron_variant ESAD-UK 5 63642650 63642650 single base substitution A C intron_variant ESAD-UK 5 63643029 63643029 single base substitution C A intron_variant ESAD-UK 5 63643325 63643325 single base substitution T A intron_variant ESAD-UK 5 63644095 63644095 single base substitution T G intron_variant ESAD-UK 5 63644788 63644788 single base substitution A C intron_variant ESAD-UK 5 63645213 63645213 single base substitution A C intron_variant ESAD-UK 5 63648175 63648175 single base substitution A C intron_variant ESAD-UK 5 63648477 63648477 single base substitution G T intron_variant ESAD-UK 5 63649051 63649051 deletion of <=200bp T - intron_variant ESAD-UK 5 63649077 63649077 single base substitution G T intron_variant ESAD-UK 5 63649147 63649147 single base substitution A C intron_variant ESAD-UK 5 63649161 63649161 single base substitution C T intron_variant ESAD-UK 5 63649226 63649226 single base substitution G A intron_variant ESAD-UK 5 63649618 63649618 single base substitution A C intron_variant ESAD-UK 5 63650034 63650034 single base substitution A G intron_variant ESAD-UK 5 63650290 63650290 single base substitution T G intron_variant ESAD-UK 5 63650685 63650685 single base substitution G A intron_variant ESAD-UK 5 63650732 63650732 single base substitution A C intron_variant ESAD-UK 5 63650768 63650768 single base substitution T G intron_variant ESAD-UK 5 63650975 63650975 single base substitution T C intron_variant ESAD-UK 5 63651872 63651872 single base substitution C T intron_variant ESAD-UK 5 63651902 63651902 single base substitution A C intron_variant ESAD-UK 5 63651921 63651921 single base substitution A G intron_variant ESAD-UK 5 63652419 63652419 single base substitution A G intron_variant ESAD-UK 5 63652887 63652887 deletion of <=200bp A - intron_variant ESAD-UK 5 63653163 63653163 single base substitution T G intron_variant ESAD-UK 5 63653516 63653516 single base substitution A C intron_variant ESAD-UK 5 63653880 63653880 single base substitution A G intron_variant ESAD-UK 5 63653889 63653889 single base substitution T G intron_variant ESAD-UK 5 63653926 63653926 single base substitution A G intron_variant ESAD-UK 5 63654317 63654317 single base substitution T G intron_variant ESAD-UK 5 63654393 63654393 single base substitution A G intron_variant ESAD-UK 5 63655348 63655348 single base substitution G C intron_variant ESAD-UK 5 63656436 63656436 single base substitution A C intron_variant ESAD-UK 5 63656748 63656748 single base substitution A C intron_variant ESAD-UK 5 63656802 63656802 single base substitution T C intron_variant ESAD-UK 5 63657465 63657465 single base substitution C A intron_variant ESAD-UK 5 63657483 63657483 single base substitution A C intron_variant ESAD-UK 5 63658436 63658436 single base substitution C T intron_variant ESAD-UK 5 63658491 63658491 single base substitution C T intron_variant ESAD-UK 5 63658492 63658492 single base substitution A C intron_variant ESAD-UK 5 63658551 63658551 single base substitution T C intron_variant ESAD-UK 5 63658693 63658693 single base substitution T C intron_variant ESAD-UK 5 63659381 63659381 single base substitution T G intron_variant ESAD-UK 5 63659935 63659935 single base substitution A G intron_variant ESAD-UK 5 63660112 63660112 single base substitution A G intron_variant ESAD-UK 5 63660417 63660417 single base substitution A G intron_variant ESAD-UK 5 63660424 63660424 single base substitution G A intron_variant ESAD-UK 5 63661257 63661257 single base substitution A C intron_variant ESAD-UK 5 63661285 63661285 single base substitution A G intron_variant ESAD-UK 5 63661288 63661288 single base substitution A C intron_variant ESAD-UK 5 63661411 63661411 single base substitution G C intron_variant ESAD-UK 5 63661703 63661703 single base substitution A C intron_variant ESAD-UK 5 63662011 63662014 deletion of <=200bp TTTG - intron_variant ESAD-UK 5 63662098 63662098 single base substitution A C intron_variant ESAD-UK 5 63662458 63662458 single base substitution A C intron_variant ESAD-UK 5 63662593 63662593 single base substitution T G intron_variant ESAD-UK 5 63662611 63662611 single base substitution A C intron_variant ESAD-UK 5 63662643 63662643 single base substitution A T intron_variant ESAD-UK 5 63663132 63663132 single base substitution A C intron_variant ESAD-UK 5 63663365 63663365 single base substitution A G intron_variant ESAD-UK 5 63663720 63663720 single base substitution A C intron_variant ESAD-UK 5 63663728 63663728 single base substitution A C intron_variant ESAD-UK 5 63664215 63664215 single base substitution T A intron_variant ESAD-UK 5 63665492 63665492 single base substitution G A missense_variant A544T 1630G>A ESAD-UK 5 63665493 63665494 deletion of <=200bp CA - frameshift_variant A544 ESAD-UK 5 63665729 63665729 single base substitution T G 3_prime_UTR_variant ESAD-UK 5 63665989 63665989 single base substitution A G 3_prime_UTR_variant ESAD-UK 5 63666541 63666541 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 5 63666643 63666643 single base substitution T A 3_prime_UTR_variant ESAD-UK 5 63666876 63666876 single base substitution T G 3_prime_UTR_variant ESAD-UK 5 63667647 63667647 single base substitution A C 3_prime_UTR_variant ESAD-UK 5 63668899 63668899 single base substitution A C downstream_gene_variant ESAD-UK 5 63668956 63668956 single base substitution G C downstream_gene_variant ESAD-UK 5 63669164 63669164 single base substitution A C downstream_gene_variant ESAD-UK 5 63669751 63669751 single base substitution T A downstream_gene_variant ESAD-UK 5 63670363 63670363 single base substitution A G downstream_gene_variant ESAD-UK 5 63670917 63670917 single base substitution T G downstream_gene_variant ESAD-UK 5 63670935 63670935 single base substitution A G downstream_gene_variant ESAD-UK 5 63671379 63671379 single base substitution A C downstream_gene_variant ESAD-UK 5 63671420 63671420 single base substitution C T downstream_gene_variant ESAD-UK 5 63672098 63672098 single base substitution T G downstream_gene_variant ESAD-UK 5 63672106 63672106 single base substitution A C downstream_gene_variant ESAD-UK 5 63672115 63672115 single base substitution A C downstream_gene_variant ESAD-UK 5 63672199 63672199 deletion of <=200bp G - downstream_gene_variant ESAD-UK 5 63672403 63672403 single base substitution A T downstream_gene_variant ESAD-UK 5 63672872 63672872 single base substitution A C downstream_gene_variant ESAD-UK 5 63673296 63673296 single base substitution T A downstream_gene_variant ESCA-CN 5 63509953 63509953 single base substitution C T downstream_gene_variant ESCA-CN 5 63509953 63509953 single base substitution C T intron_variant ESCA-CN 5 63509953 63509953 single base substitution C T missense_variant S267L 800C>T ESCA-CN 5 63621060 63621060 single base substitution A C missense_variant E425D 1275A>C ESCA-CN 5 63626112 63626112 single base substitution G A synonymous_variant L486L 1458G>A GACA-CN 5 63509941 63509941 single base substitution C A downstream_gene_variant GACA-CN 5 63509941 63509941 single base substitution C A intron_variant GACA-CN 5 63509941 63509941 single base substitution C A missense_variant P263H 788C>A KIRC-US 5 63509562 63509562 single base substitution T C downstream_gene_variant KIRC-US 5 63509562 63509562 single base substitution T C intron_variant KIRC-US 5 63509562 63509562 single base substitution T C missense_variant Y137H 409T>C LAML-KR 5 63521326 63521326 single base substitution G A intron_variant LAML-KR 5 63521532 63521532 single base substitution T C intron_variant LAML-KR 5 63521771 63521771 single base substitution C T intron_variant LAML-KR 5 63521892 63521892 single base substitution A G intron_variant LAML-KR 5 63645065 63645065 single base substitution C A intron_variant LAML-KR 5 63655499 63655499 single base substitution G T intron_variant LAML-KR 5 63655522 63655522 single base substitution C G intron_variant LAML-KR 5 63673675 63673675 single base substitution C T downstream_gene_variant LGG-US 5 63509839 63509840 deletion of <=200bp AT - downstream_gene_variant LGG-US 5 63509839 63509840 deletion of <=200bp AT - frameshift_variant H229 LGG-US 5 63509839 63509840 deletion of <=200bp AT - intron_variant LICA-FR 5 63467052 63467052 single base substitution A G intron_variant LICA-FR 5 63469140 63469140 single base substitution A T intron_variant LICA-FR 5 63470198 63470198 single base substitution G T intron_variant LICA-FR 5 63497899 63497899 single base substitution A T intron_variant LICA-FR 5 63504260 63504260 single base substitution G A intron_variant LICA-FR 5 63513201 63513201 single base substitution G C downstream_gene_variant LICA-FR 5 63513201 63513201 single base substitution G C missense_variant G402A 1205G>C LICA-FR 5 63513201 63513201 single base substitution G C missense_variant G82A 245G>C LICA-FR 5 63519937 63519937 single base substitution C T intron_variant LICA-FR 5 63523169 63523169 single base substitution A G intron_variant LICA-FR 5 63532162 63532162 single base substitution G T intron_variant LICA-FR 5 63548991 63548991 single base substitution C G intron_variant LICA-FR 5 63579066 63579066 single base substitution A C intron_variant LICA-FR 5 63583212 63583212 single base substitution C A intron_variant LICA-FR 5 63587733 63587733 single base substitution G T intron_variant LICA-FR 5 63595391 63595391 single base substitution G A intron_variant LICA-FR 5 63595959 63595959 single base substitution A C intron_variant LICA-FR 5 63596609 63596609 single base substitution A G intron_variant LICA-FR 5 63608474 63608474 single base substitution C T intron_variant LICA-FR 5 63619273 63619273 single base substitution C A intron_variant LICA-FR 5 63660905 63660905 single base substitution T C intron_variant LICA-FR 5 63665881 63665881 single base substitution T A 3_prime_UTR_variant LIHC-US 5 63509811 63509811 single base substitution G T downstream_gene_variant LIHC-US 5 63509811 63509811 single base substitution G T intron_variant LIHC-US 5 63509811 63509811 single base substitution G T missense_variant A220S 658G>T LINC-JP 5 63464696 63464696 single base substitution T G intron_variant LINC-JP 5 63474046 63474046 single base substitution A G intron_variant LINC-JP 5 63484934 63484934 single base substitution A C intron_variant LINC-JP 5 63486761 63486761 single base substitution G A intron_variant LINC-JP 5 63488820 63488820 single base substitution A G intron_variant LINC-JP 5 63496746 63496747 deletion of <=200bp TA - frameshift_variant Y38 LINC-JP 5 63522018 63522018 single base substitution G T intron_variant LINC-JP 5 63527290 63527290 single base substitution T G intron_variant LINC-JP 5 63527567 63527567 single base substitution C T intron_variant LINC-JP 5 63531678 63531678 single base substitution C T intron_variant LINC-JP 5 63550595 63550595 single base substitution A G intron_variant LINC-JP 5 63554148 63554148 single base substitution A G intron_variant LINC-JP 5 63559607 63559607 single base substitution T A intron_variant LINC-JP 5 63564823 63564823 single base substitution T A intron_variant LINC-JP 5 63568359 63568359 single base substitution G A intron_variant LINC-JP 5 63577445 63577445 single base substitution C T intron_variant LINC-JP 5 63580919 63580919 single base substitution C A intron_variant LINC-JP 5 63585635 63585635 single base substitution T A intron_variant LINC-JP 5 63597260 63597260 single base substitution A G intron_variant LINC-JP 5 63600779 63600779 single base substitution C T intron_variant LINC-JP 5 63603334 63603334 single base substitution G A intron_variant LINC-JP 5 63604228 63604228 single base substitution A G intron_variant LINC-JP 5 63611164 63611164 single base substitution G A intron_variant LINC-JP 5 63612485 63612485 single base substitution T G intron_variant LINC-JP 5 63620061 63620061 single base substitution C T intron_variant LINC-JP 5 63628461 63628461 single base substitution C T intron_variant LINC-JP 5 63644434 63644434 deletion of <=200bp T - intron_variant LINC-JP 5 63665433 63665433 single base substitution A G intron_variant LINC-JP 5 63665665 63665665 single base substitution G T 3_prime_UTR_variant LIRI-JP 5 63457133 63457133 single base substitution A G upstream_gene_variant LIRI-JP 5 63457633 63457633 single base substitution T C upstream_gene_variant LIRI-JP 5 63457844 63457844 single base substitution T C upstream_gene_variant LIRI-JP 5 63459252 63459252 single base substitution T C upstream_gene_variant LIRI-JP 5 63459538 63459538 single base substitution T A upstream_gene_variant LIRI-JP 5 63459633 63459633 single base substitution G A upstream_gene_variant LIRI-JP 5 63459886 63459886 single base substitution C G upstream_gene_variant LIRI-JP 5 63460685 63460685 single base substitution G T upstream_gene_variant LIRI-JP 5 63461131 63461131 single base substitution A G upstream_gene_variant LIRI-JP 5 63463486 63463486 single base substitution A G intron_variant LIRI-JP 5 63464820 63464820 single base substitution G T intron_variant LIRI-JP 5 63466619 63466619 single base substitution C G intron_variant LIRI-JP 5 63468394 63468394 single base substitution A G intron_variant LIRI-JP 5 63469009 63469009 single base substitution C A intron_variant LIRI-JP 5 63469206 63469206 single base substitution G T intron_variant LIRI-JP 5 63469779 63469779 single base substitution G T intron_variant LIRI-JP 5 63470572 63470572 single base substitution G A intron_variant LIRI-JP 5 63471249 63471249 single base substitution A G intron_variant LIRI-JP 5 63473191 63473191 single base substitution C G intron_variant LIRI-JP 5 63475048 63475048 single base substitution A G intron_variant LIRI-JP 5 63475867 63475867 single base substitution A G intron_variant LIRI-JP 5 63476018 63476018 single base substitution T G intron_variant LIRI-JP 5 63476026 63476026 single base substitution A T intron_variant LIRI-JP 5 63477545 63477545 single base substitution A G intron_variant LIRI-JP 5 63478421 63478421 single base substitution A C intron_variant LIRI-JP 5 63478720 63478720 single base substitution A G intron_variant LIRI-JP 5 63479037 63479037 single base substitution C T intron_variant LIRI-JP 5 63479354 63479354 single base substitution A C intron_variant LIRI-JP 5 63479487 63479487 single base substitution C A intron_variant LIRI-JP 5 63483191 63483191 single base substitution A G intron_variant LIRI-JP 5 63483196 63483196 single base substitution A T intron_variant LIRI-JP 5 63484934 63484934 single base substitution A C intron_variant LIRI-JP 5 63486668 63486668 single base substitution T G intron_variant LIRI-JP 5 63490705 63490705 single base substitution A G intron_variant LIRI-JP 5 63490769 63490769 single base substitution A G intron_variant LIRI-JP 5 63490928 63490928 single base substitution C A intron_variant LIRI-JP 5 63491322 63491322 single base substitution A G intron_variant LIRI-JP 5 63492498 63492498 single base substitution T C intron_variant LIRI-JP 5 63494111 63494111 single base substitution A G intron_variant LIRI-JP 5 63495758 63495758 single base substitution A G intron_variant LIRI-JP 5 63496214 63496214 single base substitution C T intron_variant LIRI-JP 5 63497372 63497372 single base substitution A G intron_variant LIRI-JP 5 63502317 63502317 single base substitution C A intron_variant LIRI-JP 5 63502417 63502417 single base substitution A G intron_variant LIRI-JP 5 63502471 63502471 single base substitution C T intron_variant LIRI-JP 5 63504082 63504082 single base substitution A G intron_variant LIRI-JP 5 63508079 63508079 single base substitution C A intron_variant LIRI-JP 5 63508334 63508334 single base substitution A G intron_variant LIRI-JP 5 63508910 63508910 single base substitution G T intron_variant LIRI-JP 5 63511524 63511524 single base substitution T G downstream_gene_variant LIRI-JP 5 63511524 63511524 single base substitution T G intron_variant LIRI-JP 5 63511547 63511547 deletion of <=200bp C - downstream_gene_variant LIRI-JP 5 63511547 63511547 deletion of <=200bp C - intron_variant LIRI-JP 5 63513093 63513093 single base substitution A G downstream_gene_variant LIRI-JP 5 63513093 63513093 single base substitution A G intron_variant LIRI-JP 5 63514594 63514594 single base substitution A C downstream_gene_variant LIRI-JP 5 63514594 63514594 single base substitution A C intron_variant LIRI-JP 5 63514890 63514890 single base substitution T C downstream_gene_variant LIRI-JP 5 63514890 63514890 single base substitution T C intron_variant LIRI-JP 5 63515252 63515252 single base substitution A G downstream_gene_variant LIRI-JP 5 63515252 63515252 single base substitution A G intron_variant LIRI-JP 5 63515368 63515368 single base substitution A G downstream_gene_variant LIRI-JP 5 63515368 63515368 single base substitution A G intron_variant LIRI-JP 5 63516374 63516374 single base substitution A G downstream_gene_variant LIRI-JP 5 63516374 63516374 single base substitution A G intron_variant LIRI-JP 5 63516633 63516633 single base substitution T G downstream_gene_variant LIRI-JP 5 63516633 63516633 single base substitution T G intron_variant LIRI-JP 5 63518395 63518395 single base substitution C T downstream_gene_variant LIRI-JP 5 63518395 63518395 single base substitution C T intron_variant LIRI-JP 5 63523078 63523078 single base substitution G A intron_variant LIRI-JP 5 63523623 63523623 single base substitution A G intron_variant LIRI-JP 5 63525154 63525154 single base substitution T C intron_variant LIRI-JP 5 63525184 63525184 single base substitution T G intron_variant LIRI-JP 5 63525193 63525193 single base substitution A G intron_variant LIRI-JP 5 63526941 63526941 single base substitution G A intron_variant LIRI-JP 5 63527034 63527036 deletion of <=200bp TCT - intron_variant LIRI-JP 5 63527298 63527298 single base substitution A G intron_variant LIRI-JP 5 63529181 63529181 single base substitution T G intron_variant LIRI-JP 5 63529636 63529636 single base substitution T C intron_variant LIRI-JP 5 63529755 63529755 single base substitution G A intron_variant LIRI-JP 5 63532264 63532264 single base substitution C T intron_variant LIRI-JP 5 63534809 63534809 single base substitution G A intron_variant LIRI-JP 5 63535923 63535923 single base substitution A C intron_variant LIRI-JP 5 63535986 63535986 single base substitution A G intron_variant LIRI-JP 5 63536268 63536268 single base substitution T C intron_variant LIRI-JP 5 63537034 63537034 single base substitution C A intron_variant LIRI-JP 5 63537861 63537861 single base substitution C A intron_variant LIRI-JP 5 63539701 63539701 single base substitution C G intron_variant LIRI-JP 5 63543034 63543034 single base substitution C G intron_variant LIRI-JP 5 63545854 63545854 single base substitution G A intron_variant LIRI-JP 5 63546958 63546958 single base substitution A G intron_variant LIRI-JP 5 63548128 63548128 single base substitution A G intron_variant LIRI-JP 5 63548290 63548290 single base substitution G A intron_variant LIRI-JP 5 63550447 63550447 single base substitution A G intron_variant LIRI-JP 5 63552569 63552569 single base substitution G A intron_variant LIRI-JP 5 63553452 63553452 single base substitution T C intron_variant LIRI-JP 5 63556360 63556360 single base substitution A T intron_variant LIRI-JP 5 63558531 63558531 single base substitution A T intron_variant LIRI-JP 5 63562194 63562194 single base substitution A G intron_variant LIRI-JP 5 63562846 63562846 single base substitution A G intron_variant LIRI-JP 5 63564151 63564151 single base substitution C G intron_variant LIRI-JP 5 63565457 63565457 single base substitution A T intron_variant LIRI-JP 5 63566382 63566382 single base substitution T G intron_variant LIRI-JP 5 63566400 63566400 single base substitution A G intron_variant LIRI-JP 5 63566513 63566513 single base substitution A G intron_variant LIRI-JP 5 63566552 63566552 single base substitution A G intron_variant LIRI-JP 5 63567661 63567668 deletion of <=200bp CACTGTGA - intron_variant LIRI-JP 5 63567665 63567665 single base substitution G T intron_variant LIRI-JP 5 63569850 63569850 single base substitution T A intron_variant LIRI-JP 5 63570870 63570870 single base substitution A G intron_variant LIRI-JP 5 63571676 63571676 single base substitution C T intron_variant LIRI-JP 5 63572778 63572778 single base substitution A G intron_variant LIRI-JP 5 63573622 63573622 single base substitution C G intron_variant LIRI-JP 5 63573977 63573977 single base substitution G A intron_variant LIRI-JP 5 63574748 63574748 single base substitution G T intron_variant LIRI-JP 5 63576362 63576362 single base substitution G A intron_variant LIRI-JP 5 63578944 63578944 single base substitution T A intron_variant LIRI-JP 5 63580012 63580012 single base substitution C T intron_variant LIRI-JP 5 63586140 63586140 single base substitution G A intron_variant LIRI-JP 5 63586260 63586260 single base substitution T C intron_variant LIRI-JP 5 63586927 63586927 single base substitution G A intron_variant LIRI-JP 5 63588898 63588898 single base substitution C A intron_variant LIRI-JP 5 63591260 63591260 single base substitution G A intron_variant LIRI-JP 5 63591423 63591423 single base substitution C G intron_variant LIRI-JP 5 63591704 63591704 single base substitution A G intron_variant LIRI-JP 5 63591813 63591813 single base substitution T C intron_variant LIRI-JP 5 63593013 63593013 single base substitution A G intron_variant LIRI-JP 5 63593535 63593535 single base substitution C G intron_variant LIRI-JP 5 63595307 63595307 deletion of <=200bp T - intron_variant LIRI-JP 5 63599914 63599914 single base substitution G A intron_variant LIRI-JP 5 63600600 63600600 single base substitution G C intron_variant LIRI-JP 5 63602118 63602118 single base substitution G C intron_variant LIRI-JP 5 63604942 63604942 single base substitution G C intron_variant LIRI-JP 5 63610102 63610102 single base substitution A G intron_variant LIRI-JP 5 63612083 63612083 single base substitution A G intron_variant LIRI-JP 5 63612776 63612776 single base substitution C A intron_variant LIRI-JP 5 63612946 63612946 single base substitution A T intron_variant LIRI-JP 5 63613176 63613176 single base substitution C T intron_variant LIRI-JP 5 63614224 63614224 single base substitution A G intron_variant LIRI-JP 5 63615659 63615659 single base substitution A G intron_variant LIRI-JP 5 63615845 63615845 single base substitution T C intron_variant LIRI-JP 5 63616826 63616826 single base substitution C G intron_variant LIRI-JP 5 63617342 63617342 single base substitution A G intron_variant LIRI-JP 5 63619343 63619343 single base substitution C T intron_variant LIRI-JP 5 63620653 63620653 single base substitution A T intron_variant LIRI-JP 5 63621525 63621525 single base substitution A T intron_variant LIRI-JP 5 63621764 63621764 single base substitution A G intron_variant LIRI-JP 5 63622627 63622627 single base substitution A G intron_variant LIRI-JP 5 63623082 63623082 single base substitution G T intron_variant LIRI-JP 5 63623607 63623607 single base substitution A G intron_variant LIRI-JP 5 63625214 63625214 single base substitution G T intron_variant LIRI-JP 5 63627075 63627075 single base substitution G T intron_variant LIRI-JP 5 63628536 63628536 single base substitution C A intron_variant LIRI-JP 5 63628629 63628629 single base substitution T C intron_variant LIRI-JP 5 63629352 63629352 single base substitution A G intron_variant LIRI-JP 5 63634185 63634185 single base substitution G T intron_variant LIRI-JP 5 63634912 63634912 single base substitution T C intron_variant LIRI-JP 5 63635120 63635120 single base substitution A G intron_variant LIRI-JP 5 63635674 63635674 single base substitution G C intron_variant LIRI-JP 5 63636922 63636922 single base substitution A G intron_variant LIRI-JP 5 63638064 63638064 single base substitution A G intron_variant LIRI-JP 5 63638218 63638218 single base substitution A G intron_variant LIRI-JP 5 63640393 63640397 deletion of <=200bp ACCTG - intron_variant LIRI-JP 5 63643509 63643509 single base substitution G C intron_variant LIRI-JP 5 63643993 63643993 single base substitution A G intron_variant LIRI-JP 5 63644862 63644862 single base substitution A G intron_variant LIRI-JP 5 63649666 63649666 single base substitution C T intron_variant LIRI-JP 5 63651465 63651465 single base substitution A G intron_variant LIRI-JP 5 63654224 63654224 single base substitution G C intron_variant LIRI-JP 5 63655838 63655838 single base substitution C T intron_variant LIRI-JP 5 63659404 63659404 single base substitution T C intron_variant LIRI-JP 5 63659672 63659672 single base substitution G A intron_variant LIRI-JP 5 63659716 63659716 single base substitution C A intron_variant LIRI-JP 5 63660964 63660964 single base substitution T A intron_variant LIRI-JP 5 63661094 63661094 single base substitution A G intron_variant LIRI-JP 5 63662991 63662991 single base substitution A G intron_variant LIRI-JP 5 63663109 63663109 single base substitution T C intron_variant LIRI-JP 5 63663310 63663310 single base substitution A C intron_variant LIRI-JP 5 63665620 63665620 single base substitution C A stop_gained C586* 1758C>A LIRI-JP 5 63665713 63665713 single base substitution G A 3_prime_UTR_variant LIRI-JP 5 63666247 63666247 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 63666796 63666796 single base substitution G T 3_prime_UTR_variant LIRI-JP 5 63667127 63667127 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 63669151 63669151 single base substitution A C downstream_gene_variant LIRI-JP 5 63669684 63669684 insertion of <=200bp - T downstream_gene_variant LIRI-JP 5 63670323 63670323 single base substitution A G downstream_gene_variant LUSC-KR 5 63457540 63457540 single base substitution C G upstream_gene_variant LUSC-KR 5 63464538 63464538 single base substitution G T intron_variant LUSC-KR 5 63469442 63469442 single base substitution C T intron_variant LUSC-KR 5 63469561 63469561 single base substitution G T intron_variant LUSC-KR 5 63471071 63471071 single base substitution G A intron_variant LUSC-KR 5 63474402 63474402 single base substitution C G intron_variant LUSC-KR 5 63479126 63479126 single base substitution C A intron_variant LUSC-KR 5 63480350 63480350 single base substitution G T intron_variant LUSC-KR 5 63482077 63482077 single base substitution A T intron_variant LUSC-KR 5 63482719 63482719 single base substitution C T intron_variant LUSC-KR 5 63484066 63484066 single base substitution G C intron_variant LUSC-KR 5 63484137 63484137 single base substitution G C intron_variant LUSC-KR 5 63491960 63491960 single base substitution A G intron_variant LUSC-KR 5 63494777 63494777 single base substitution G T intron_variant LUSC-KR 5 63494805 63494805 single base substitution G T intron_variant LUSC-KR 5 63502507 63502507 single base substitution A G intron_variant LUSC-KR 5 63503945 63503945 single base substitution T C intron_variant LUSC-KR 5 63509826 63509826 single base substitution C T downstream_gene_variant LUSC-KR 5 63509826 63509826 single base substitution C T intron_variant LUSC-KR 5 63509826 63509826 single base substitution C T missense_variant H225Y 673C>T LUSC-KR 5 63512961 63512961 single base substitution T C downstream_gene_variant LUSC-KR 5 63512961 63512961 single base substitution T C intron_variant LUSC-KR 5 63512986 63512986 single base substitution A T downstream_gene_variant LUSC-KR 5 63512986 63512986 single base substitution A T intron_variant LUSC-KR 5 63522597 63522597 single base substitution C G intron_variant LUSC-KR 5 63523307 63523307 single base substitution T C intron_variant LUSC-KR 5 63525837 63525837 single base substitution G C intron_variant LUSC-KR 5 63528540 63528540 single base substitution A C intron_variant LUSC-KR 5 63529397 63529397 single base substitution A T intron_variant LUSC-KR 5 63530024 63530024 single base substitution G T intron_variant LUSC-KR 5 63530043 63530043 single base substitution A T intron_variant LUSC-KR 5 63530534 63530534 single base substitution C T intron_variant LUSC-KR 5 63539044 63539044 single base substitution A T intron_variant LUSC-KR 5 63543533 63543533 single base substitution T C intron_variant LUSC-KR 5 63546691 63546691 single base substitution A C intron_variant LUSC-KR 5 63548886 63548886 single base substitution G A intron_variant LUSC-KR 5 63549081 63549081 single base substitution C T intron_variant LUSC-KR 5 63551974 63551974 single base substitution G A intron_variant LUSC-KR 5 63555816 63555816 single base substitution T G intron_variant LUSC-KR 5 63561168 63561168 single base substitution A G intron_variant LUSC-KR 5 63564269 63564269 single base substitution A G intron_variant LUSC-KR 5 63568800 63568800 single base substitution C A intron_variant LUSC-KR 5 63569129 63569129 single base substitution C A intron_variant LUSC-KR 5 63569214 63569214 single base substitution T C intron_variant LUSC-KR 5 63569635 63569635 single base substitution C T intron_variant LUSC-KR 5 63573022 63573022 single base substitution A G intron_variant LUSC-KR 5 63582954 63582954 single base substitution T G intron_variant LUSC-KR 5 63582955 63582955 single base substitution G T intron_variant LUSC-KR 5 63583076 63583076 single base substitution G T intron_variant LUSC-KR 5 63585372 63585372 single base substitution T C intron_variant LUSC-KR 5 63586105 63586105 single base substitution G A intron_variant LUSC-KR 5 63597542 63597542 single base substitution G T intron_variant LUSC-KR 5 63599949 63599949 single base substitution G C intron_variant LUSC-KR 5 63603191 63603191 single base substitution C T intron_variant LUSC-KR 5 63605476 63605476 single base substitution A G intron_variant LUSC-KR 5 63606984 63606984 single base substitution C A intron_variant LUSC-KR 5 63615080 63615080 single base substitution A T intron_variant LUSC-KR 5 63623221 63623221 single base substitution C T intron_variant LUSC-KR 5 63629956 63629956 single base substitution G T intron_variant LUSC-KR 5 63632617 63632617 single base substitution T A intron_variant LUSC-KR 5 63638220 63638220 single base substitution C G intron_variant LUSC-KR 5 63645076 63645076 single base substitution A G intron_variant LUSC-KR 5 63645921 63645921 single base substitution T C intron_variant LUSC-KR 5 63649023 63649023 single base substitution G C intron_variant LUSC-KR 5 63650939 63650939 single base substitution C G intron_variant LUSC-KR 5 63651834 63651834 single base substitution G A intron_variant LUSC-KR 5 63654975 63654975 single base substitution C G intron_variant LUSC-KR 5 63655290 63655290 single base substitution C T intron_variant LUSC-KR 5 63655300 63655300 single base substitution G A intron_variant LUSC-KR 5 63655522 63655522 single base substitution C G intron_variant LUSC-KR 5 63656091 63656091 single base substitution G T intron_variant LUSC-KR 5 63656798 63656798 single base substitution A G intron_variant LUSC-KR 5 63658121 63658121 single base substitution T C intron_variant LUSC-KR 5 63660569 63660569 single base substitution C T intron_variant LUSC-KR 5 63661052 63661052 single base substitution C G intron_variant LUSC-KR 5 63661993 63661993 single base substitution T C intron_variant LUSC-KR 5 63662296 63662296 single base substitution C T intron_variant LUSC-KR 5 63664530 63664530 single base substitution G A intron_variant LUSC-KR 5 63665335 63665335 single base substitution G A intron_variant LUSC-KR 5 63665861 63665861 single base substitution A G 3_prime_UTR_variant LUSC-KR 5 63667835 63667835 single base substitution C T 3_prime_UTR_variant LUSC-KR 5 63669573 63669573 single base substitution A T downstream_gene_variant LUSC-KR 5 63671567 63671567 single base substitution G T downstream_gene_variant LUSC-US 5 63510147 63510147 single base substitution C A downstream_gene_variant LUSC-US 5 63510147 63510147 single base substitution C A intron_variant LUSC-US 5 63510147 63510147 single base substitution C A missense_variant L332M 994C>A MALY-DE 5 63457026 63457026 single base substitution C T upstream_gene_variant MALY-DE 5 63465116 63465117 deletion of <=200bp GA - intron_variant MALY-DE 5 63467619 63467619 single base substitution C T intron_variant MALY-DE 5 63470679 63470679 single base substitution T G intron_variant MALY-DE 5 63471680 63471680 single base substitution T G intron_variant MALY-DE 5 63471705 63471705 single base substitution T C intron_variant MALY-DE 5 63476649 63476649 single base substitution A T intron_variant MALY-DE 5 63477974 63477974 single base substitution C T intron_variant MALY-DE 5 63478871 63478871 single base substitution T C intron_variant MALY-DE 5 63480178 63480178 single base substitution C G intron_variant MALY-DE 5 63480653 63480653 single base substitution G A intron_variant MALY-DE 5 63481369 63481369 single base substitution A G intron_variant MALY-DE 5 63481379 63481379 single base substitution A T intron_variant MALY-DE 5 63482344 63482344 single base substitution T G intron_variant MALY-DE 5 63483188 63483188 single base substitution A C intron_variant MALY-DE 5 63483906 63483906 single base substitution C T intron_variant MALY-DE 5 63486118 63486118 single base substitution C A intron_variant MALY-DE 5 63487789 63487789 single base substitution T G intron_variant MALY-DE 5 63488100 63488100 single base substitution T C intron_variant MALY-DE 5 63492018 63492018 deletion of <=200bp T - intron_variant MALY-DE 5 63492489 63492489 single base substitution T G intron_variant MALY-DE 5 63493289 63493289 single base substitution G A intron_variant MALY-DE 5 63493630 63493630 single base substitution C T intron_variant MALY-DE 5 63496050 63496050 single base substitution A C intron_variant MALY-DE 5 63497205 63497205 single base substitution A C intron_variant MALY-DE 5 63500503 63500503 single base substitution G T intron_variant MALY-DE 5 63501950 63501950 single base substitution C G intron_variant MALY-DE 5 63505425 63505425 single base substitution A G intron_variant MALY-DE 5 63508962 63508962 single base substitution C A intron_variant MALY-DE 5 63510837 63510837 single base substitution A C downstream_gene_variant MALY-DE 5 63510837 63510837 single base substitution A C intron_variant MALY-DE 5 63513614 63513614 deletion of <=200bp A - downstream_gene_variant MALY-DE 5 63513614 63513614 deletion of <=200bp A - intron_variant MALY-DE 5 63513976 63513976 single base substitution G T downstream_gene_variant MALY-DE 5 63513976 63513976 single base substitution G T intron_variant MALY-DE 5 63515312 63515312 deletion of <=200bp T - downstream_gene_variant MALY-DE 5 63515312 63515312 deletion of <=200bp T - intron_variant MALY-DE 5 63516258 63516258 single base substitution A T downstream_gene_variant MALY-DE 5 63516258 63516258 single base substitution A T intron_variant MALY-DE 5 63518336 63518336 single base substitution A T downstream_gene_variant MALY-DE 5 63518336 63518336 single base substitution A T intron_variant MALY-DE 5 63519890 63519891 deletion of <=200bp GT - intron_variant MALY-DE 5 63521354 63521355 deletion of <=200bp TT - intron_variant MALY-DE 5 63523283 63523283 single base substitution C G intron_variant MALY-DE 5 63526654 63526654 single base substitution A C intron_variant MALY-DE 5 63526665 63526665 single base substitution A C intron_variant MALY-DE 5 63526832 63526832 single base substitution A C intron_variant MALY-DE 5 63538674 63538674 single base substitution A T intron_variant MALY-DE 5 63541329 63541329 single base substitution A G intron_variant MALY-DE 5 63542970 63542970 single base substitution C T intron_variant MALY-DE 5 63546718 63546719 deletion of <=200bp AC - intron_variant MALY-DE 5 63548411 63548411 single base substitution T C intron_variant MALY-DE 5 63551175 63551175 single base substitution C G intron_variant MALY-DE 5 63562163 63562163 single base substitution G C intron_variant MALY-DE 5 63563573 63563573 single base substitution T C intron_variant MALY-DE 5 63567712 63567712 single base substitution C A intron_variant MALY-DE 5 63567852 63567852 single base substitution A G intron_variant MALY-DE 5 63568886 63568886 single base substitution A G intron_variant MALY-DE 5 63569996 63569996 single base substitution T C intron_variant MALY-DE 5 63576386 63576386 single base substitution G T intron_variant MALY-DE 5 63582948 63582948 single base substitution C T intron_variant MALY-DE 5 63584293 63584293 single base substitution A G intron_variant MALY-DE 5 63590111 63590111 single base substitution T A intron_variant MALY-DE 5 63590990 63590990 single base substitution T G intron_variant MALY-DE 5 63594594 63594594 deletion of <=200bp G - intron_variant MALY-DE 5 63595072 63595072 single base substitution T C intron_variant MALY-DE 5 63605634 63605634 single base substitution A G intron_variant MALY-DE 5 63606918 63606918 single base substitution T C intron_variant MALY-DE 5 63607612 63607612 single base substitution C A intron_variant MALY-DE 5 63613876 63613876 single base substitution G A intron_variant MALY-DE 5 63614561 63614561 single base substitution A G intron_variant MALY-DE 5 63615443 63615443 single base substitution C A intron_variant MALY-DE 5 63616488 63616488 single base substitution T G intron_variant MALY-DE 5 63618520 63618520 single base substitution A C intron_variant MALY-DE 5 63619978 63619978 single base substitution T G intron_variant MALY-DE 5 63624747 63624747 single base substitution A C intron_variant MALY-DE 5 63625215 63625215 single base substitution A G intron_variant MALY-DE 5 63626152 63626152 single base substitution A C missense_variant K500Q 1498A>C MALY-DE 5 63627764 63627764 single base substitution A C intron_variant MALY-DE 5 63628736 63628736 single base substitution G A intron_variant MALY-DE 5 63629448 63629448 single base substitution C A intron_variant MALY-DE 5 63630013 63630013 single base substitution G A intron_variant MALY-DE 5 63630735 63630735 single base substitution C T intron_variant MALY-DE 5 63631031 63631031 single base substitution T G intron_variant MALY-DE 5 63631857 63631857 single base substitution T C intron_variant MALY-DE 5 63632133 63632133 single base substitution C T intron_variant MALY-DE 5 63639916 63639916 insertion of <=200bp - A intron_variant MALY-DE 5 63640844 63640844 single base substitution A T intron_variant MALY-DE 5 63648144 63648144 single base substitution C A intron_variant MALY-DE 5 63648616 63648616 single base substitution G A intron_variant MALY-DE 5 63648750 63648750 insertion of <=200bp - T intron_variant MALY-DE 5 63649294 63649294 single base substitution T A intron_variant MALY-DE 5 63650987 63650987 single base substitution C A intron_variant MALY-DE 5 63652509 63652509 single base substitution G A intron_variant MALY-DE 5 63654414 63654414 single base substitution A C intron_variant MALY-DE 5 63660622 63660622 single base substitution G T intron_variant MALY-DE 5 63662593 63662593 single base substitution T G intron_variant MALY-DE 5 63662893 63662893 single base substitution T A intron_variant MALY-DE 5 63666102 63666102 single base substitution A C 3_prime_UTR_variant MALY-DE 5 63666805 63666805 single base substitution A T 3_prime_UTR_variant MALY-DE 5 63667647 63667647 single base substitution A C 3_prime_UTR_variant MALY-DE 5 63668017 63668017 single base substitution A T 3_prime_UTR_variant MALY-DE 5 63672785 63672785 insertion of <=200bp - A downstream_gene_variant MELA-AU 5 63456697 63456697 single base substitution G A upstream_gene_variant MELA-AU 5 63457055 63457055 single base substitution G A upstream_gene_variant MELA-AU 5 63457598 63457598 single base substitution C T upstream_gene_variant MELA-AU 5 63458223 63458223 single base substitution C T upstream_gene_variant MELA-AU 5 63458353 63458353 single base substitution C T upstream_gene_variant MELA-AU 5 63458576 63458576 single base substitution A T upstream_gene_variant MELA-AU 5 63458609 63458609 single base substitution G A upstream_gene_variant MELA-AU 5 63458963 63458963 single base substitution G A upstream_gene_variant MELA-AU 5 63459374 63459374 single base substitution C T upstream_gene_variant MELA-AU 5 63459522 63459522 single base substitution G A upstream_gene_variant MELA-AU 5 63459581 63459581 single base substitution G A upstream_gene_variant MELA-AU 5 63459592 63459592 single base substitution G A upstream_gene_variant MELA-AU 5 63459914 63459914 single base substitution C G upstream_gene_variant MELA-AU 5 63460123 63460123 single base substitution C T upstream_gene_variant MELA-AU 5 63460408 63460408 single base substitution C T upstream_gene_variant MELA-AU 5 63460463 63460463 single base substitution G A upstream_gene_variant MELA-AU 5 63460959 63460959 single base substitution C T upstream_gene_variant MELA-AU 5 63461233 63461233 single base substitution G A upstream_gene_variant MELA-AU 5 63462189 63462189 single base substitution G A intron_variant MELA-AU 5 63462355 63462355 single base substitution C T intron_variant MELA-AU 5 63462410 63462410 single base substitution G A intron_variant MELA-AU 5 63462557 63462557 single base substitution T G intron_variant MELA-AU 5 63463009 63463009 single base substitution G A intron_variant MELA-AU 5 63463333 63463333 single base substitution C T intron_variant MELA-AU 5 63463466 63463466 single base substitution A T intron_variant MELA-AU 5 63463718 63463718 single base substitution G A intron_variant MELA-AU 5 63463721 63463721 single base substitution G A intron_variant MELA-AU 5 63464406 63464406 single base substitution C T intron_variant MELA-AU 5 63464792 63464792 single base substitution G A intron_variant MELA-AU 5 63464869 63464869 single base substitution G A intron_variant MELA-AU 5 63465026 63465026 single base substitution C T intron_variant MELA-AU 5 63465254 63465254 single base substitution G A intron_variant MELA-AU 5 63465884 63465884 single base substitution C T intron_variant MELA-AU 5 63465969 63465969 single base substitution G A intron_variant MELA-AU 5 63466415 63466415 single base substitution G A intron_variant MELA-AU 5 63466434 63466434 single base substitution G A intron_variant MELA-AU 5 63466529 63466529 single base substitution G A intron_variant MELA-AU 5 63466795 63466795 single base substitution G A intron_variant MELA-AU 5 63467230 63467230 single base substitution C T intron_variant MELA-AU 5 63467667 63467668 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 63467706 63467706 single base substitution G A intron_variant MELA-AU 5 63467902 63467902 single base substitution G A intron_variant MELA-AU 5 63468219 63468219 single base substitution G A intron_variant MELA-AU 5 63468237 63468237 single base substitution G A intron_variant MELA-AU 5 63468413 63468413 single base substitution C T intron_variant MELA-AU 5 63468689 63468689 single base substitution G A intron_variant MELA-AU 5 63468749 63468749 single base substitution T A intron_variant MELA-AU 5 63469030 63469030 single base substitution C T intron_variant MELA-AU 5 63469449 63469450 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 63469456 63469456 single base substitution C T intron_variant MELA-AU 5 63469475 63469475 single base substitution C T intron_variant MELA-AU 5 63469771 63469771 single base substitution G A intron_variant MELA-AU 5 63469805 63469805 single base substitution T C intron_variant MELA-AU 5 63469980 63469980 single base substitution C T intron_variant MELA-AU 5 63469994 63469994 single base substitution A T intron_variant MELA-AU 5 63470128 63470128 single base substitution C T intron_variant MELA-AU 5 63470169 63470169 single base substitution C T intron_variant MELA-AU 5 63470393 63470393 single base substitution G A intron_variant MELA-AU 5 63470411 63470411 single base substitution C T intron_variant MELA-AU 5 63470440 63470440 single base substitution C T intron_variant MELA-AU 5 63470511 63470511 single base substitution C T intron_variant MELA-AU 5 63470584 63470584 single base substitution C T intron_variant MELA-AU 5 63470593 63470593 single base substitution C T intron_variant MELA-AU 5 63470825 63470825 single base substitution C T intron_variant MELA-AU 5 63470902 63470902 single base substitution C T intron_variant MELA-AU 5 63470918 63470918 single base substitution C T intron_variant MELA-AU 5 63471234 63471234 single base substitution C T intron_variant MELA-AU 5 63472258 63472258 single base substitution C T intron_variant MELA-AU 5 63472274 63472274 single base substitution C T intron_variant MELA-AU 5 63472275 63472275 single base substitution G A intron_variant MELA-AU 5 63472296 63472296 single base substitution G A intron_variant MELA-AU 5 63472718 63472718 single base substitution G A intron_variant MELA-AU 5 63473014 63473014 single base substitution C T intron_variant MELA-AU 5 63473376 63473376 single base substitution A G intron_variant MELA-AU 5 63473474 63473474 single base substitution C A intron_variant MELA-AU 5 63473482 63473482 single base substitution G A intron_variant MELA-AU 5 63473640 63473640 single base substitution G A intron_variant MELA-AU 5 63473808 63473808 single base substitution G A intron_variant MELA-AU 5 63474037 63474037 single base substitution A G intron_variant MELA-AU 5 63474440 63474440 single base substitution G A intron_variant MELA-AU 5 63474519 63474519 single base substitution T C intron_variant MELA-AU 5 63474614 63474614 single base substitution C T intron_variant MELA-AU 5 63474727 63474727 single base substitution G C intron_variant MELA-AU 5 63474838 63474838 single base substitution C T intron_variant MELA-AU 5 63474924 63474924 single base substitution G A intron_variant MELA-AU 5 63475118 63475118 single base substitution G C intron_variant MELA-AU 5 63475540 63475540 single base substitution G C intron_variant MELA-AU 5 63475587 63475587 single base substitution G A intron_variant MELA-AU 5 63475715 63475715 single base substitution C T intron_variant MELA-AU 5 63475890 63475890 single base substitution C T intron_variant MELA-AU 5 63475989 63475989 single base substitution C T intron_variant MELA-AU 5 63476030 63476030 single base substitution T C intron_variant MELA-AU 5 63476574 63476574 single base substitution C T intron_variant MELA-AU 5 63476648 63476648 single base substitution G A intron_variant MELA-AU 5 63477032 63477032 single base substitution C T intron_variant MELA-AU 5 63477225 63477225 single base substitution C T intron_variant MELA-AU 5 63477535 63477535 single base substitution C T intron_variant MELA-AU 5 63477550 63477550 single base substitution G A intron_variant MELA-AU 5 63477642 63477642 single base substitution C T intron_variant MELA-AU 5 63477753 63477753 single base substitution G A intron_variant MELA-AU 5 63478267 63478267 single base substitution C T intron_variant MELA-AU 5 63478739 63478739 single base substitution G A intron_variant MELA-AU 5 63478998 63478998 single base substitution G A intron_variant MELA-AU 5 63479193 63479193 single base substitution G A intron_variant MELA-AU 5 63479416 63479416 single base substitution A T intron_variant MELA-AU 5 63479471 63479471 single base substitution C T intron_variant MELA-AU 5 63479477 63479477 single base substitution C T intron_variant MELA-AU 5 63479495 63479495 single base substitution G A intron_variant MELA-AU 5 63479506 63479506 single base substitution C T intron_variant MELA-AU 5 63479740 63479740 single base substitution C T intron_variant MELA-AU 5 63480261 63480261 single base substitution G T intron_variant MELA-AU 5 63480664 63480664 single base substitution A G intron_variant MELA-AU 5 63481207 63481207 single base substitution T C intron_variant MELA-AU 5 63481252 63481252 single base substitution G A intron_variant MELA-AU 5 63481446 63481446 single base substitution G C intron_variant MELA-AU 5 63481461 63481461 single base substitution C T intron_variant MELA-AU 5 63481559 63481559 single base substitution G A intron_variant MELA-AU 5 63481696 63481696 single base substitution G A intron_variant MELA-AU 5 63481845 63481845 single base substitution T C intron_variant MELA-AU 5 63482050 63482050 single base substitution C T intron_variant MELA-AU 5 63482466 63482466 single base substitution C T intron_variant MELA-AU 5 63482995 63482995 single base substitution G T intron_variant MELA-AU 5 63483175 63483175 single base substitution C T intron_variant MELA-AU 5 63483422 63483422 single base substitution C T intron_variant MELA-AU 5 63483540 63483540 single base substitution C T intron_variant MELA-AU 5 63484075 63484075 single base substitution C T intron_variant MELA-AU 5 63484397 63484397 single base substitution T C intron_variant MELA-AU 5 63484473 63484473 single base substitution C T intron_variant MELA-AU 5 63484526 63484526 single base substitution G A intron_variant MELA-AU 5 63484603 63484603 single base substitution A T intron_variant MELA-AU 5 63484632 63484632 single base substitution G A intron_variant MELA-AU 5 63484645 63484645 single base substitution G A intron_variant MELA-AU 5 63484703 63484703 single base substitution C T intron_variant MELA-AU 5 63484715 63484715 single base substitution C T intron_variant MELA-AU 5 63484759 63484759 single base substitution G A intron_variant MELA-AU 5 63484777 63484777 single base substitution G A intron_variant MELA-AU 5 63484796 63484796 single base substitution C T intron_variant MELA-AU 5 63485541 63485541 single base substitution T A intron_variant MELA-AU 5 63485616 63485616 single base substitution C T intron_variant MELA-AU 5 63485786 63485786 single base substitution C T intron_variant MELA-AU 5 63486254 63486254 single base substitution C T intron_variant MELA-AU 5 63486291 63486291 single base substitution G A intron_variant MELA-AU 5 63486534 63486534 single base substitution A T intron_variant MELA-AU 5 63486703 63486703 single base substitution A G intron_variant MELA-AU 5 63486878 63486878 single base substitution C T intron_variant MELA-AU 5 63487270 63487270 single base substitution A G intron_variant MELA-AU 5 63487729 63487729 single base substitution C T intron_variant MELA-AU 5 63487926 63487926 single base substitution C T intron_variant MELA-AU 5 63488260 63488260 single base substitution G A intron_variant MELA-AU 5 63488448 63488448 single base substitution G A intron_variant MELA-AU 5 63488620 63488620 single base substitution G A intron_variant MELA-AU 5 63488962 63488962 single base substitution G A intron_variant MELA-AU 5 63489230 63489230 single base substitution C T intron_variant MELA-AU 5 63489410 63489410 single base substitution G A intron_variant MELA-AU 5 63489570 63489570 single base substitution C T intron_variant MELA-AU 5 63489611 63489611 single base substitution G A intron_variant MELA-AU 5 63489790 63489790 single base substitution G A intron_variant MELA-AU 5 63490004 63490004 single base substitution C T intron_variant MELA-AU 5 63490651 63490651 single base substitution C T intron_variant MELA-AU 5 63490723 63490723 single base substitution C T intron_variant MELA-AU 5 63490893 63490893 single base substitution T C intron_variant MELA-AU 5 63491083 63491083 single base substitution A C intron_variant MELA-AU 5 63491700 63491700 single base substitution C T intron_variant MELA-AU 5 63491907 63491907 single base substitution A C intron_variant MELA-AU 5 63492117 63492117 single base substitution T C intron_variant MELA-AU 5 63492612 63492612 single base substitution G A intron_variant MELA-AU 5 63492718 63492718 single base substitution C T intron_variant MELA-AU 5 63492773 63492773 single base substitution C T intron_variant MELA-AU 5 63492890 63492890 single base substitution G A intron_variant MELA-AU 5 63493067 63493067 single base substitution C T intron_variant MELA-AU 5 63493310 63493310 single base substitution G A intron_variant MELA-AU 5 63493483 63493483 single base substitution G A intron_variant MELA-AU 5 63493580 63493580 single base substitution C T intron_variant MELA-AU 5 63493611 63493611 single base substitution G A intron_variant MELA-AU 5 63493660 63493660 single base substitution G A intron_variant MELA-AU 5 63493959 63493959 single base substitution C T intron_variant MELA-AU 5 63494123 63494123 single base substitution G A intron_variant MELA-AU 5 63494205 63494205 single base substitution G C intron_variant MELA-AU 5 63494211 63494211 single base substitution G T intron_variant MELA-AU 5 63494381 63494381 single base substitution G A intron_variant MELA-AU 5 63494443 63494443 single base substitution G C intron_variant MELA-AU 5 63494540 63494540 single base substitution G A intron_variant MELA-AU 5 63494666 63494666 single base substitution G A intron_variant MELA-AU 5 63494831 63494831 single base substitution G A intron_variant MELA-AU 5 63495198 63495198 single base substitution C T intron_variant MELA-AU 5 63495293 63495293 single base substitution C T intron_variant MELA-AU 5 63495523 63495523 single base substitution G C intron_variant MELA-AU 5 63495735 63495735 single base substitution T C intron_variant MELA-AU 5 63495749 63495749 single base substitution A G intron_variant MELA-AU 5 63496445 63496445 single base substitution A T intron_variant MELA-AU 5 63496695 63496695 single base substitution C T missense_variant R21C 61C>T MELA-AU 5 63497010 63497010 single base substitution C T intron_variant MELA-AU 5 63497063 63497063 single base substitution T G intron_variant MELA-AU 5 63497217 63497217 single base substitution G A intron_variant MELA-AU 5 63497458 63497458 single base substitution C T intron_variant MELA-AU 5 63497734 63497734 single base substitution T C intron_variant MELA-AU 5 63498212 63498212 single base substitution T A intron_variant MELA-AU 5 63498228 63498228 single base substitution G A intron_variant MELA-AU 5 63498240 63498240 single base substitution C T intron_variant MELA-AU 5 63498417 63498417 single base substitution C T intron_variant MELA-AU 5 63498431 63498431 single base substitution G A intron_variant MELA-AU 5 63498438 63498438 single base substitution C T intron_variant MELA-AU 5 63498441 63498441 single base substitution G A intron_variant MELA-AU 5 63498470 63498470 single base substitution C T intron_variant MELA-AU 5 63498539 63498539 single base substitution C T intron_variant MELA-AU 5 63498548 63498548 single base substitution C T intron_variant MELA-AU 5 63498549 63498549 single base substitution T C intron_variant MELA-AU 5 63500062 63500062 single base substitution G C intron_variant MELA-AU 5 63500519 63500519 single base substitution C T intron_variant MELA-AU 5 63500578 63500578 single base substitution C T intron_variant MELA-AU 5 63500853 63500853 single base substitution C T intron_variant MELA-AU 5 63501184 63501184 single base substitution G A intron_variant MELA-AU 5 63501245 63501245 single base substitution C T intron_variant MELA-AU 5 63501648 63501648 single base substitution G A intron_variant MELA-AU 5 63501718 63501718 single base substitution C T intron_variant MELA-AU 5 63501749 63501749 single base substitution G A intron_variant MELA-AU 5 63502154 63502154 single base substitution C T intron_variant MELA-AU 5 63502370 63502370 single base substitution T C intron_variant MELA-AU 5 63502471 63502471 single base substitution C T intron_variant MELA-AU 5 63502603 63502603 single base substitution G A intron_variant MELA-AU 5 63502619 63502619 single base substitution C T intron_variant MELA-AU 5 63502696 63502696 single base substitution C T intron_variant MELA-AU 5 63503207 63503207 single base substitution C T intron_variant MELA-AU 5 63504948 63504948 single base substitution C T intron_variant MELA-AU 5 63505454 63505454 single base substitution C T intron_variant MELA-AU 5 63505795 63505795 single base substitution C T intron_variant MELA-AU 5 63505860 63505860 single base substitution T C intron_variant MELA-AU 5 63506552 63506552 single base substitution A T intron_variant MELA-AU 5 63506758 63506758 single base substitution C T intron_variant MELA-AU 5 63506828 63506828 single base substitution G A intron_variant MELA-AU 5 63507005 63507005 single base substitution G A intron_variant MELA-AU 5 63507215 63507215 single base substitution C T intron_variant MELA-AU 5 63507405 63507405 single base substitution G A intron_variant MELA-AU 5 63507544 63507544 single base substitution G A intron_variant MELA-AU 5 63507872 63507872 single base substitution C A intron_variant MELA-AU 5 63508342 63508342 single base substitution C T intron_variant MELA-AU 5 63508610 63508610 single base substitution C T intron_variant MELA-AU 5 63509232 63509232 single base substitution T C intron_variant MELA-AU 5 63509273 63509274 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 63509429 63509429 single base substitution C T intron_variant MELA-AU 5 63509429 63509429 single base substitution C T synonymous_variant A92A 276C>T MELA-AU 5 63510146 63510146 single base substitution C T downstream_gene_variant MELA-AU 5 63510146 63510146 single base substitution C T intron_variant MELA-AU 5 63510146 63510146 single base substitution C T synonymous_variant F331F 993C>T MELA-AU 5 63510576 63510576 single base substitution C T downstream_gene_variant MELA-AU 5 63510576 63510576 single base substitution C T intron_variant MELA-AU 5 63510898 63510898 single base substitution C T downstream_gene_variant MELA-AU 5 63510898 63510898 single base substitution C T intron_variant MELA-AU 5 63511507 63511507 single base substitution C T downstream_gene_variant MELA-AU 5 63511507 63511507 single base substitution C T intron_variant MELA-AU 5 63511597 63511597 single base substitution A T downstream_gene_variant MELA-AU 5 63511597 63511597 single base substitution A T intron_variant MELA-AU 5 63512100 63512100 single base substitution G A downstream_gene_variant MELA-AU 5 63512100 63512100 single base substitution G A intron_variant MELA-AU 5 63512560 63512560 single base substitution T C downstream_gene_variant MELA-AU 5 63512560 63512560 single base substitution T C intron_variant MELA-AU 5 63512601 63512601 single base substitution G A downstream_gene_variant MELA-AU 5 63512601 63512601 single base substitution G A intron_variant MELA-AU 5 63512649 63512649 single base substitution C T downstream_gene_variant MELA-AU 5 63512649 63512649 single base substitution C T intron_variant MELA-AU 5 63512678 63512678 single base substitution T A downstream_gene_variant MELA-AU 5 63512678 63512678 single base substitution T A intron_variant MELA-AU 5 63512759 63512759 single base substitution G A downstream_gene_variant MELA-AU 5 63512759 63512759 single base substitution G A intron_variant MELA-AU 5 63512863 63512863 single base substitution C T downstream_gene_variant MELA-AU 5 63512863 63512863 single base substitution C T intron_variant MELA-AU 5 63513268 63513268 single base substitution C T 3_prime_UTR_variant MELA-AU 5 63513268 63513268 single base substitution C T downstream_gene_variant MELA-AU 5 63513268 63513268 single base substitution C T intron_variant MELA-AU 5 63513317 63513317 single base substitution C T 3_prime_UTR_variant MELA-AU 5 63513317 63513317 single base substitution C T downstream_gene_variant MELA-AU 5 63513317 63513317 single base substitution C T intron_variant MELA-AU 5 63513925 63513925 single base substitution C T downstream_gene_variant MELA-AU 5 63513925 63513925 single base substitution C T intron_variant MELA-AU 5 63514095 63514095 single base substitution G A downstream_gene_variant MELA-AU 5 63514095 63514095 single base substitution G A intron_variant MELA-AU 5 63514585 63514585 single base substitution C T downstream_gene_variant MELA-AU 5 63514585 63514585 single base substitution C T intron_variant MELA-AU 5 63514637 63514637 single base substitution C T downstream_gene_variant MELA-AU 5 63514637 63514637 single base substitution C T intron_variant MELA-AU 5 63514999 63514999 single base substitution A T downstream_gene_variant MELA-AU 5 63514999 63514999 single base substitution A T intron_variant MELA-AU 5 63515026 63515026 single base substitution C T downstream_gene_variant MELA-AU 5 63515026 63515026 single base substitution C T intron_variant MELA-AU 5 63515028 63515028 single base substitution G T downstream_gene_variant MELA-AU 5 63515028 63515028 single base substitution G T intron_variant MELA-AU 5 63515194 63515194 single base substitution G A downstream_gene_variant MELA-AU 5 63515194 63515194 single base substitution G A intron_variant MELA-AU 5 63515328 63515328 single base substitution G A downstream_gene_variant MELA-AU 5 63515328 63515328 single base substitution G A intron_variant MELA-AU 5 63515603 63515603 single base substitution C T downstream_gene_variant MELA-AU 5 63515603 63515603 single base substitution C T intron_variant MELA-AU 5 63515707 63515707 single base substitution G A downstream_gene_variant MELA-AU 5 63515707 63515707 single base substitution G A intron_variant MELA-AU 5 63515864 63515864 single base substitution C T downstream_gene_variant MELA-AU 5 63515864 63515864 single base substitution C T intron_variant MELA-AU 5 63515916 63515916 single base substitution A G downstream_gene_variant MELA-AU 5 63515916 63515916 single base substitution A G intron_variant MELA-AU 5 63516083 63516083 single base substitution A G downstream_gene_variant MELA-AU 5 63516083 63516083 single base substitution A G intron_variant MELA-AU 5 63516209 63516209 single base substitution C T downstream_gene_variant MELA-AU 5 63516209 63516209 single base substitution C T intron_variant MELA-AU 5 63516301 63516301 single base substitution C T downstream_gene_variant MELA-AU 5 63516301 63516301 single base substitution C T intron_variant MELA-AU 5 63516991 63516991 single base substitution G A downstream_gene_variant MELA-AU 5 63516991 63516991 single base substitution G A intron_variant MELA-AU 5 63517084 63517084 single base substitution G A downstream_gene_variant MELA-AU 5 63517084 63517084 single base substitution G A intron_variant MELA-AU 5 63517456 63517456 single base substitution C T downstream_gene_variant MELA-AU 5 63517456 63517456 single base substitution C T intron_variant MELA-AU 5 63518064 63518064 single base substitution G A downstream_gene_variant MELA-AU 5 63518064 63518064 single base substitution G A intron_variant MELA-AU 5 63518101 63518101 single base substitution C T downstream_gene_variant MELA-AU 5 63518101 63518101 single base substitution C T intron_variant MELA-AU 5 63518341 63518341 single base substitution G T downstream_gene_variant MELA-AU 5 63518341 63518341 single base substitution G T intron_variant MELA-AU 5 63518352 63518352 single base substitution C T downstream_gene_variant MELA-AU 5 63518352 63518352 single base substitution C T intron_variant MELA-AU 5 63518950 63518950 single base substitution T C intron_variant MELA-AU 5 63519129 63519129 single base substitution A G intron_variant MELA-AU 5 63519139 63519139 single base substitution G A intron_variant MELA-AU 5 63519147 63519147 single base substitution C T intron_variant MELA-AU 5 63519311 63519311 single base substitution C T intron_variant MELA-AU 5 63519333 63519333 single base substitution G A intron_variant MELA-AU 5 63519516 63519516 single base substitution T A intron_variant MELA-AU 5 63519817 63519817 single base substitution G A intron_variant MELA-AU 5 63520578 63520578 single base substitution C T intron_variant MELA-AU 5 63520661 63520661 single base substitution C T intron_variant MELA-AU 5 63520789 63520789 single base substitution C T intron_variant MELA-AU 5 63520939 63520939 single base substitution C T intron_variant MELA-AU 5 63521048 63521048 single base substitution C T intron_variant MELA-AU 5 63521170 63521170 single base substitution G A intron_variant MELA-AU 5 63521180 63521180 single base substitution G A intron_variant MELA-AU 5 63521314 63521314 single base substitution C T intron_variant MELA-AU 5 63521365 63521365 single base substitution G A intron_variant MELA-AU 5 63521540 63521540 single base substitution C T intron_variant MELA-AU 5 63521541 63521541 single base substitution C T intron_variant MELA-AU 5 63521580 63521580 single base substitution C T intron_variant MELA-AU 5 63521741 63521741 single base substitution C T intron_variant MELA-AU 5 63521820 63521820 single base substitution C T intron_variant MELA-AU 5 63521897 63521897 single base substitution G A intron_variant MELA-AU 5 63521970 63521970 single base substitution G T intron_variant MELA-AU 5 63522063 63522063 single base substitution G T intron_variant MELA-AU 5 63522378 63522378 single base substitution G A intron_variant MELA-AU 5 63522653 63522654 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 5 63522654 63522654 single base substitution G A intron_variant MELA-AU 5 63522697 63522697 single base substitution C T intron_variant MELA-AU 5 63522907 63522907 single base substitution C T intron_variant MELA-AU 5 63523717 63523717 single base substitution T A intron_variant MELA-AU 5 63523940 63523940 single base substitution G A intron_variant MELA-AU 5 63524020 63524020 single base substitution G A intron_variant MELA-AU 5 63524133 63524133 single base substitution G A intron_variant MELA-AU 5 63524453 63524453 single base substitution C T intron_variant MELA-AU 5 63524514 63524514 single base substitution C T intron_variant MELA-AU 5 63524667 63524667 single base substitution C T intron_variant MELA-AU 5 63524885 63524885 single base substitution A G intron_variant MELA-AU 5 63524977 63524977 single base substitution C T intron_variant MELA-AU 5 63525491 63525491 single base substitution T C intron_variant MELA-AU 5 63525886 63525886 single base substitution C T intron_variant MELA-AU 5 63526075 63526075 single base substitution T G intron_variant MELA-AU 5 63526184 63526184 single base substitution G A intron_variant MELA-AU 5 63526264 63526264 single base substitution C T intron_variant MELA-AU 5 63526452 63526452 single base substitution C T intron_variant MELA-AU 5 63526671 63526671 single base substitution C T intron_variant MELA-AU 5 63526783 63526783 single base substitution G A intron_variant MELA-AU 5 63526922 63526922 single base substitution T G intron_variant MELA-AU 5 63527116 63527116 single base substitution G A intron_variant MELA-AU 5 63527158 63527158 single base substitution G A intron_variant MELA-AU 5 63527241 63527241 single base substitution C T intron_variant MELA-AU 5 63527294 63527294 single base substitution C T intron_variant MELA-AU 5 63527412 63527412 single base substitution G A intron_variant MELA-AU 5 63527442 63527442 single base substitution C T intron_variant MELA-AU 5 63527554 63527554 single base substitution G A intron_variant MELA-AU 5 63527688 63527688 single base substitution C T intron_variant MELA-AU 5 63527745 63527745 single base substitution G A intron_variant MELA-AU 5 63528060 63528060 single base substitution C T intron_variant MELA-AU 5 63528088 63528088 single base substitution G A intron_variant MELA-AU 5 63528457 63528457 single base substitution G A intron_variant MELA-AU 5 63528622 63528622 single base substitution C T intron_variant MELA-AU 5 63528645 63528645 single base substitution A T intron_variant MELA-AU 5 63528724 63528724 single base substitution C T intron_variant MELA-AU 5 63528981 63528981 single base substitution G A intron_variant MELA-AU 5 63529016 63529016 single base substitution G A intron_variant MELA-AU 5 63529395 63529395 single base substitution G A intron_variant MELA-AU 5 63529580 63529580 single base substitution T G intron_variant MELA-AU 5 63529618 63529618 single base substitution C T intron_variant MELA-AU 5 63529731 63529731 single base substitution C T intron_variant MELA-AU 5 63529984 63529984 single base substitution C T intron_variant MELA-AU 5 63530207 63530207 single base substitution C T intron_variant MELA-AU 5 63530300 63530300 single base substitution A G intron_variant MELA-AU 5 63530455 63530455 single base substitution C T intron_variant MELA-AU 5 63530493 63530493 single base substitution C T intron_variant MELA-AU 5 63530517 63530517 single base substitution C T intron_variant MELA-AU 5 63530550 63530550 single base substitution C T intron_variant MELA-AU 5 63530627 63530627 single base substitution C T intron_variant MELA-AU 5 63530926 63530926 single base substitution A T intron_variant MELA-AU 5 63531227 63531227 single base substitution T A intron_variant MELA-AU 5 63531295 63531295 single base substitution C T intron_variant MELA-AU 5 63531298 63531298 single base substitution T C intron_variant MELA-AU 5 63531508 63531508 single base substitution G A intron_variant MELA-AU 5 63531616 63531616 single base substitution T A intron_variant MELA-AU 5 63531725 63531725 single base substitution C T intron_variant MELA-AU 5 63531780 63531780 single base substitution G A intron_variant MELA-AU 5 63532199 63532199 single base substitution C T intron_variant MELA-AU 5 63532475 63532475 single base substitution C T intron_variant MELA-AU 5 63532493 63532493 single base substitution C A intron_variant MELA-AU 5 63532590 63532590 single base substitution C T intron_variant MELA-AU 5 63532844 63532844 single base substitution G A intron_variant MELA-AU 5 63532929 63532929 single base substitution C T intron_variant MELA-AU 5 63533118 63533118 single base substitution A T intron_variant MELA-AU 5 63533133 63533133 single base substitution G A intron_variant MELA-AU 5 63533306 63533306 single base substitution G A intron_variant MELA-AU 5 63533618 63533618 single base substitution G A intron_variant MELA-AU 5 63533638 63533638 single base substitution C G intron_variant MELA-AU 5 63533644 63533644 single base substitution C T intron_variant MELA-AU 5 63533662 63533662 single base substitution C T intron_variant MELA-AU 5 63533807 63533807 single base substitution C T intron_variant MELA-AU 5 63534027 63534027 single base substitution C T intron_variant MELA-AU 5 63534053 63534053 single base substitution T A intron_variant MELA-AU 5 63534131 63534131 single base substitution G A intron_variant MELA-AU 5 63534434 63534473 deletion of <=200bp TTATATACCTGTTGTTCATTTGCATGTCTTCTTTGGAAAA - intron_variant MELA-AU 5 63534488 63534488 single base substitution C T intron_variant MELA-AU 5 63534799 63534799 single base substitution C T intron_variant MELA-AU 5 63534901 63534901 single base substitution C T intron_variant MELA-AU 5 63534972 63534972 single base substitution T C intron_variant MELA-AU 5 63535129 63535129 single base substitution C T intron_variant MELA-AU 5 63535135 63535135 single base substitution G A intron_variant MELA-AU 5 63535188 63535188 single base substitution C T intron_variant MELA-AU 5 63535267 63535267 single base substitution C T intron_variant MELA-AU 5 63535332 63535332 single base substitution G A intron_variant MELA-AU 5 63536130 63536130 single base substitution C T intron_variant MELA-AU 5 63536472 63536472 single base substitution C T intron_variant MELA-AU 5 63536489 63536489 single base substitution C T intron_variant MELA-AU 5 63536587 63536587 single base substitution C T intron_variant MELA-AU 5 63536766 63536766 single base substitution C T intron_variant MELA-AU 5 63536939 63536939 single base substitution G A intron_variant MELA-AU 5 63537129 63537129 single base substitution G A intron_variant MELA-AU 5 63537145 63537145 single base substitution C T intron_variant MELA-AU 5 63537222 63537222 single base substitution G A intron_variant MELA-AU 5 63537334 63537334 single base substitution C T intron_variant MELA-AU 5 63537454 63537454 single base substitution C T intron_variant MELA-AU 5 63537498 63537498 single base substitution C T intron_variant MELA-AU 5 63537844 63537844 single base substitution C T intron_variant MELA-AU 5 63537970 63537970 single base substitution C T intron_variant MELA-AU 5 63537976 63537976 single base substitution C A intron_variant MELA-AU 5 63538286 63538286 single base substitution C T intron_variant MELA-AU 5 63538406 63538406 deletion of <=200bp G - intron_variant MELA-AU 5 63538477 63538477 single base substitution G A intron_variant MELA-AU 5 63538500 63538500 single base substitution C T intron_variant MELA-AU 5 63538505 63538505 single base substitution C T intron_variant MELA-AU 5 63538825 63538825 single base substitution C T intron_variant MELA-AU 5 63538934 63538934 single base substitution C T intron_variant MELA-AU 5 63538935 63538935 single base substitution C T intron_variant MELA-AU 5 63539018 63539018 single base substitution G A intron_variant MELA-AU 5 63539130 63539131 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 63539268 63539268 single base substitution C T intron_variant MELA-AU 5 63539277 63539277 single base substitution A T intron_variant MELA-AU 5 63539392 63539392 single base substitution A C intron_variant MELA-AU 5 63539604 63539604 single base substitution C T intron_variant MELA-AU 5 63539793 63539793 single base substitution C T intron_variant MELA-AU 5 63539841 63539841 single base substitution G A intron_variant MELA-AU 5 63539908 63539908 single base substitution C T intron_variant MELA-AU 5 63539969 63539969 single base substitution G A intron_variant MELA-AU 5 63540179 63540179 single base substitution A C intron_variant MELA-AU 5 63540180 63540180 single base substitution G A intron_variant MELA-AU 5 63540216 63540216 single base substitution C T intron_variant MELA-AU 5 63540518 63540518 single base substitution C T intron_variant MELA-AU 5 63540544 63540544 single base substitution C T intron_variant MELA-AU 5 63540800 63540800 single base substitution C T intron_variant MELA-AU 5 63540927 63540927 single base substitution C T intron_variant MELA-AU 5 63540992 63540992 single base substitution G A intron_variant MELA-AU 5 63541313 63541313 single base substitution G A intron_variant MELA-AU 5 63541587 63541587 single base substitution A G intron_variant MELA-AU 5 63541594 63541594 single base substitution C T intron_variant MELA-AU 5 63541827 63541827 single base substitution C T intron_variant MELA-AU 5 63541830 63541830 single base substitution G A intron_variant MELA-AU 5 63542127 63542127 single base substitution C T intron_variant MELA-AU 5 63542346 63542346 single base substitution G A intron_variant MELA-AU 5 63542383 63542383 single base substitution A G intron_variant MELA-AU 5 63542417 63542417 deletion of <=200bp A - intron_variant MELA-AU 5 63542469 63542469 single base substitution C T intron_variant MELA-AU 5 63542639 63542639 single base substitution G A intron_variant MELA-AU 5 63543131 63543131 single base substitution G A intron_variant MELA-AU 5 63543163 63543163 single base substitution G A intron_variant MELA-AU 5 63543213 63543213 single base substitution C T intron_variant MELA-AU 5 63543272 63543272 single base substitution C T intron_variant MELA-AU 5 63543491 63543491 single base substitution C T intron_variant MELA-AU 5 63543595 63543595 single base substitution C T intron_variant MELA-AU 5 63543827 63543827 single base substitution G A intron_variant MELA-AU 5 63543831 63543831 single base substitution G A intron_variant MELA-AU 5 63543910 63543910 single base substitution C T intron_variant MELA-AU 5 63543972 63543972 single base substitution C T intron_variant MELA-AU 5 63544252 63544252 single base substitution C T intron_variant MELA-AU 5 63544768 63544768 single base substitution C T intron_variant MELA-AU 5 63544773 63544773 single base substitution C T intron_variant MELA-AU 5 63544963 63544963 single base substitution G A intron_variant MELA-AU 5 63544995 63544995 single base substitution G A intron_variant MELA-AU 5 63545255 63545255 single base substitution G A intron_variant MELA-AU 5 63545464 63545464 single base substitution C T intron_variant MELA-AU 5 63545741 63545741 single base substitution C T intron_variant MELA-AU 5 63545807 63545807 single base substitution G A intron_variant MELA-AU 5 63546207 63546207 single base substitution C T intron_variant MELA-AU 5 63546274 63546274 single base substitution A G intron_variant MELA-AU 5 63546661 63546661 single base substitution G A intron_variant MELA-AU 5 63546676 63546676 single base substitution C T intron_variant MELA-AU 5 63546723 63546723 single base substitution C T intron_variant MELA-AU 5 63546781 63546781 single base substitution C T intron_variant MELA-AU 5 63546857 63546857 single base substitution C T intron_variant MELA-AU 5 63546858 63546858 single base substitution C T intron_variant MELA-AU 5 63547348 63547348 single base substitution C T intron_variant MELA-AU 5 63547505 63547505 single base substitution G A intron_variant MELA-AU 5 63547572 63547572 single base substitution T C intron_variant MELA-AU 5 63547620 63547620 single base substitution C T intron_variant MELA-AU 5 63548103 63548103 single base substitution G A intron_variant MELA-AU 5 63548104 63548104 single base substitution G A intron_variant MELA-AU 5 63548199 63548199 single base substitution G A intron_variant MELA-AU 5 63548251 63548251 single base substitution G T intron_variant MELA-AU 5 63548284 63548284 single base substitution C T intron_variant MELA-AU 5 63548352 63548352 single base substitution C T intron_variant MELA-AU 5 63548597 63548597 single base substitution G A intron_variant MELA-AU 5 63549773 63549773 single base substitution A G intron_variant MELA-AU 5 63549949 63549949 single base substitution C T intron_variant MELA-AU 5 63550361 63550361 single base substitution G A intron_variant MELA-AU 5 63550497 63550497 single base substitution T A intron_variant MELA-AU 5 63550676 63550676 single base substitution T A intron_variant MELA-AU 5 63550755 63550755 single base substitution G A intron_variant MELA-AU 5 63550798 63550798 single base substitution C T intron_variant MELA-AU 5 63550849 63550849 single base substitution A C intron_variant MELA-AU 5 63550874 63550874 single base substitution T A intron_variant MELA-AU 5 63551250 63551250 single base substitution C T intron_variant MELA-AU 5 63551754 63551754 single base substitution G A intron_variant MELA-AU 5 63552095 63552095 single base substitution C T intron_variant MELA-AU 5 63552183 63552183 single base substitution C T intron_variant MELA-AU 5 63552216 63552216 single base substitution G A intron_variant MELA-AU 5 63552526 63552526 single base substitution C T intron_variant MELA-AU 5 63552552 63552552 single base substitution C T intron_variant MELA-AU 5 63552691 63552691 single base substitution C T intron_variant MELA-AU 5 63552781 63552781 single base substitution C T intron_variant MELA-AU 5 63552812 63552812 single base substitution C T intron_variant MELA-AU 5 63552993 63552993 single base substitution C T intron_variant MELA-AU 5 63552994 63552994 single base substitution C T intron_variant MELA-AU 5 63553014 63553014 single base substitution C T intron_variant MELA-AU 5 63553033 63553033 single base substitution C T intron_variant MELA-AU 5 63553243 63553243 single base substitution C T intron_variant MELA-AU 5 63553424 63553424 single base substitution C T intron_variant MELA-AU 5 63553491 63553491 single base substitution C T intron_variant MELA-AU 5 63553565 63553565 single base substitution T G intron_variant MELA-AU 5 63553691 63553691 single base substitution T C intron_variant MELA-AU 5 63553957 63553957 single base substitution G A intron_variant MELA-AU 5 63554027 63554027 single base substitution G A intron_variant MELA-AU 5 63554047 63554047 single base substitution C T intron_variant MELA-AU 5 63554172 63554172 single base substitution G A intron_variant MELA-AU 5 63554368 63554368 single base substitution C T intron_variant MELA-AU 5 63554585 63554585 single base substitution G A intron_variant MELA-AU 5 63554640 63554640 single base substitution G A intron_variant MELA-AU 5 63554710 63554710 single base substitution A T intron_variant MELA-AU 5 63554923 63554923 single base substitution A T intron_variant MELA-AU 5 63555004 63555004 deletion of <=200bp A - intron_variant MELA-AU 5 63555045 63555045 single base substitution C A intron_variant MELA-AU 5 63555078 63555078 single base substitution G T intron_variant MELA-AU 5 63555122 63555122 single base substitution G A intron_variant MELA-AU 5 63555127 63555127 single base substitution G A intron_variant MELA-AU 5 63555406 63555406 single base substitution C T intron_variant MELA-AU 5 63555498 63555498 single base substitution C T intron_variant MELA-AU 5 63555514 63555514 single base substitution C T intron_variant MELA-AU 5 63555547 63555547 single base substitution C T intron_variant MELA-AU 5 63555818 63555818 single base substitution A G intron_variant MELA-AU 5 63556035 63556035 single base substitution C T intron_variant MELA-AU 5 63556141 63556141 single base substitution C T intron_variant MELA-AU 5 63556229 63556229 single base substitution C T intron_variant MELA-AU 5 63556509 63556509 single base substitution C T intron_variant MELA-AU 5 63556603 63556603 single base substitution C T intron_variant MELA-AU 5 63556687 63556687 single base substitution C T intron_variant MELA-AU 5 63556798 63556798 single base substitution G A intron_variant MELA-AU 5 63556926 63556926 single base substitution G A intron_variant MELA-AU 5 63557054 63557054 single base substitution C T intron_variant MELA-AU 5 63557122 63557122 single base substitution T C intron_variant MELA-AU 5 63557392 63557392 single base substitution G A intron_variant MELA-AU 5 63557526 63557526 single base substitution G A intron_variant MELA-AU 5 63557589 63557589 single base substitution G A intron_variant MELA-AU 5 63557738 63557738 single base substitution G A intron_variant MELA-AU 5 63557844 63557844 single base substitution C T intron_variant MELA-AU 5 63557950 63557950 single base substitution C T intron_variant MELA-AU 5 63558215 63558215 single base substitution C T intron_variant MELA-AU 5 63558256 63558256 single base substitution C T intron_variant MELA-AU 5 63558289 63558289 single base substitution G A intron_variant MELA-AU 5 63558790 63558790 single base substitution G A intron_variant MELA-AU 5 63558840 63558840 single base substitution G A intron_variant MELA-AU 5 63558903 63558903 single base substitution G A intron_variant MELA-AU 5 63559150 63559150 single base substitution T A intron_variant MELA-AU 5 63559316 63559316 single base substitution C T intron_variant MELA-AU 5 63559433 63559433 single base substitution C T intron_variant MELA-AU 5 63559505 63559505 single base substitution T A intron_variant MELA-AU 5 63559621 63559621 single base substitution C T intron_variant MELA-AU 5 63559887 63559887 single base substitution C T intron_variant MELA-AU 5 63559923 63559923 single base substitution C T intron_variant MELA-AU 5 63560126 63560126 single base substitution G A intron_variant MELA-AU 5 63560132 63560132 single base substitution C T intron_variant MELA-AU 5 63560157 63560157 single base substitution G A intron_variant MELA-AU 5 63560245 63560245 single base substitution C T intron_variant MELA-AU 5 63560612 63560612 single base substitution A T intron_variant MELA-AU 5 63560723 63560723 single base substitution C T intron_variant MELA-AU 5 63560964 63560964 single base substitution G A intron_variant MELA-AU 5 63561064 63561064 single base substitution C T intron_variant MELA-AU 5 63561179 63561179 single base substitution G A intron_variant MELA-AU 5 63561209 63561209 single base substitution C T intron_variant MELA-AU 5 63561556 63561556 single base substitution G A intron_variant MELA-AU 5 63561928 63561928 single base substitution C T intron_variant MELA-AU 5 63561994 63561994 single base substitution C G intron_variant MELA-AU 5 63562198 63562198 single base substitution C T intron_variant MELA-AU 5 63562436 63562436 single base substitution C T intron_variant MELA-AU 5 63562494 63562494 single base substitution G A intron_variant MELA-AU 5 63562820 63562820 single base substitution C T intron_variant MELA-AU 5 63562944 63562944 single base substitution A T intron_variant MELA-AU 5 63562955 63562955 single base substitution C T intron_variant MELA-AU 5 63563548 63563548 single base substitution T A intron_variant MELA-AU 5 63563714 63563714 single base substitution C T intron_variant MELA-AU 5 63563758 63563758 single base substitution C T intron_variant MELA-AU 5 63563879 63563879 single base substitution A T intron_variant MELA-AU 5 63564279 63564279 single base substitution C T intron_variant MELA-AU 5 63564412 63564412 single base substitution C A intron_variant MELA-AU 5 63564516 63564516 single base substitution C T intron_variant MELA-AU 5 63564704 63564704 single base substitution C T intron_variant MELA-AU 5 63564765 63564766 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 63564777 63564777 single base substitution C T intron_variant MELA-AU 5 63564979 63564979 single base substitution C T intron_variant MELA-AU 5 63565061 63565061 single base substitution C T intron_variant MELA-AU 5 63565149 63565149 single base substitution C T intron_variant MELA-AU 5 63565191 63565191 single base substitution G A intron_variant MELA-AU 5 63565319 63565319 single base substitution C G intron_variant MELA-AU 5 63565319 63565319 single base substitution C T intron_variant MELA-AU 5 63565332 63565332 single base substitution C T intron_variant MELA-AU 5 63565363 63565363 single base substitution A T intron_variant MELA-AU 5 63565399 63565399 single base substitution C T intron_variant MELA-AU 5 63565488 63565488 single base substitution G A intron_variant MELA-AU 5 63565769 63565769 single base substitution C T intron_variant MELA-AU 5 63565782 63565782 single base substitution A G intron_variant MELA-AU 5 63565794 63565794 single base substitution C T intron_variant MELA-AU 5 63565893 63565893 single base substitution C T intron_variant MELA-AU 5 63565939 63565939 single base substitution C A intron_variant MELA-AU 5 63566203 63566203 single base substitution C T intron_variant MELA-AU 5 63566496 63566496 single base substitution C T intron_variant MELA-AU 5 63566529 63566529 single base substitution G A intron_variant MELA-AU 5 63566799 63566799 single base substitution T C intron_variant MELA-AU 5 63566886 63566886 single base substitution C T intron_variant MELA-AU 5 63566992 63566992 single base substitution A T intron_variant MELA-AU 5 63567038 63567038 single base substitution C T intron_variant MELA-AU 5 63567082 63567082 single base substitution G A intron_variant MELA-AU 5 63567101 63567101 single base substitution C T intron_variant MELA-AU 5 63567173 63567173 single base substitution C T intron_variant MELA-AU 5 63567212 63567212 single base substitution G A intron_variant MELA-AU 5 63567448 63567448 single base substitution C T intron_variant MELA-AU 5 63567584 63567584 single base substitution G T intron_variant MELA-AU 5 63567681 63567681 single base substitution A T intron_variant MELA-AU 5 63567832 63567832 single base substitution G A intron_variant MELA-AU 5 63568404 63568404 single base substitution G A intron_variant MELA-AU 5 63568611 63568611 single base substitution C T intron_variant MELA-AU 5 63568799 63568799 single base substitution G A intron_variant MELA-AU 5 63568975 63568975 single base substitution A C intron_variant MELA-AU 5 63568992 63568992 single base substitution C T intron_variant MELA-AU 5 63569093 63569093 single base substitution C T intron_variant MELA-AU 5 63569212 63569212 single base substitution C T intron_variant MELA-AU 5 63569264 63569264 single base substitution G A intron_variant MELA-AU 5 63569321 63569321 single base substitution A C intron_variant MELA-AU 5 63569674 63569674 single base substitution G T intron_variant MELA-AU 5 63569927 63569927 single base substitution C T intron_variant MELA-AU 5 63570105 63570105 single base substitution C T intron_variant MELA-AU 5 63570135 63570135 single base substitution C T intron_variant MELA-AU 5 63570185 63570185 single base substitution C T intron_variant MELA-AU 5 63570229 63570229 single base substitution C T intron_variant MELA-AU 5 63570256 63570256 single base substitution C T intron_variant MELA-AU 5 63570351 63570351 single base substitution A T intron_variant MELA-AU 5 63570696 63570696 single base substitution A T intron_variant MELA-AU 5 63570916 63570916 single base substitution C T intron_variant MELA-AU 5 63571126 63571126 single base substitution G A intron_variant MELA-AU 5 63571144 63571145 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 5 63571182 63571182 single base substitution C T intron_variant MELA-AU 5 63571822 63571822 single base substitution C T intron_variant MELA-AU 5 63571938 63571938 single base substitution G A intron_variant MELA-AU 5 63572092 63572092 single base substitution C T intron_variant MELA-AU 5 63572130 63572130 single base substitution G A intron_variant MELA-AU 5 63572267 63572267 single base substitution G A intron_variant MELA-AU 5 63572324 63572324 single base substitution C T intron_variant MELA-AU 5 63572575 63572575 single base substitution T A intron_variant MELA-AU 5 63573032 63573032 single base substitution A C intron_variant MELA-AU 5 63573089 63573089 single base substitution G A intron_variant MELA-AU 5 63573584 63573584 single base substitution C T intron_variant MELA-AU 5 63573623 63573623 single base substitution C T intron_variant MELA-AU 5 63573672 63573672 single base substitution C T intron_variant MELA-AU 5 63573950 63573950 single base substitution C T intron_variant MELA-AU 5 63574004 63574004 single base substitution G A intron_variant MELA-AU 5 63574066 63574066 single base substitution C T intron_variant MELA-AU 5 63574169 63574169 single base substitution G A intron_variant MELA-AU 5 63574462 63574462 single base substitution C T intron_variant MELA-AU 5 63574488 63574488 single base substitution C T intron_variant MELA-AU 5 63574627 63574627 single base substitution G A intron_variant MELA-AU 5 63574763 63574763 single base substitution G A intron_variant MELA-AU 5 63574798 63574798 single base substitution C T intron_variant MELA-AU 5 63574822 63574822 single base substitution C T intron_variant MELA-AU 5 63574856 63574856 single base substitution A G intron_variant MELA-AU 5 63574983 63574983 single base substitution A G intron_variant MELA-AU 5 63575099 63575099 single base substitution T A intron_variant MELA-AU 5 63575485 63575485 single base substitution T G intron_variant MELA-AU 5 63575494 63575494 single base substitution C T intron_variant MELA-AU 5 63575753 63575753 single base substitution C T intron_variant MELA-AU 5 63575815 63575815 single base substitution G A intron_variant MELA-AU 5 63575977 63575977 single base substitution C T intron_variant MELA-AU 5 63576073 63576073 single base substitution T A intron_variant MELA-AU 5 63576282 63576282 single base substitution A G intron_variant MELA-AU 5 63576396 63576396 single base substitution C T intron_variant MELA-AU 5 63576432 63576432 single base substitution C T intron_variant MELA-AU 5 63576565 63576565 single base substitution C T intron_variant MELA-AU 5 63576648 63576648 single base substitution C T intron_variant MELA-AU 5 63576806 63576806 single base substitution C A intron_variant MELA-AU 5 63576852 63576852 single base substitution C T intron_variant MELA-AU 5 63577014 63577014 single base substitution G A intron_variant MELA-AU 5 63577034 63577034 single base substitution G A intron_variant MELA-AU 5 63577670 63577670 single base substitution C T intron_variant MELA-AU 5 63577772 63577772 single base substitution G A intron_variant MELA-AU 5 63577815 63577816 multiple base substitution (>=2bp and <=200bp) CT TG intron_variant MELA-AU 5 63578027 63578027 single base substitution C T intron_variant MELA-AU 5 63578565 63578565 single base substitution C T intron_variant MELA-AU 5 63578700 63578700 single base substitution T C intron_variant MELA-AU 5 63578712 63578712 single base substitution C T intron_variant MELA-AU 5 63578823 63578823 single base substitution C T intron_variant MELA-AU 5 63579092 63579092 single base substitution T C intron_variant MELA-AU 5 63579131 63579131 single base substitution T A intron_variant MELA-AU 5 63579140 63579140 single base substitution C T intron_variant MELA-AU 5 63579161 63579161 single base substitution C T intron_variant MELA-AU 5 63579333 63579333 single base substitution C T intron_variant MELA-AU 5 63579341 63579341 single base substitution A T intron_variant MELA-AU 5 63579379 63579379 single base substitution C T intron_variant MELA-AU 5 63579556 63579556 single base substitution T G intron_variant MELA-AU 5 63579611 63579611 single base substitution C T intron_variant MELA-AU 5 63579615 63579615 single base substitution C T intron_variant MELA-AU 5 63579784 63579784 single base substitution G A intron_variant MELA-AU 5 63579832 63579832 single base substitution T A intron_variant MELA-AU 5 63579932 63579932 single base substitution C T intron_variant MELA-AU 5 63579961 63579961 single base substitution G A intron_variant MELA-AU 5 63580120 63580120 single base substitution C T intron_variant MELA-AU 5 63580173 63580173 single base substitution C T intron_variant MELA-AU 5 63580530 63580530 single base substitution G A intron_variant MELA-AU 5 63580539 63580539 single base substitution C T intron_variant MELA-AU 5 63580571 63580571 single base substitution C T intron_variant MELA-AU 5 63580572 63580572 single base substitution C T intron_variant MELA-AU 5 63580758 63580758 single base substitution C T intron_variant MELA-AU 5 63580796 63580796 single base substitution C T intron_variant MELA-AU 5 63580832 63580832 single base substitution C T intron_variant MELA-AU 5 63581024 63581024 single base substitution G A intron_variant MELA-AU 5 63581214 63581214 single base substitution C T intron_variant MELA-AU 5 63581721 63581721 single base substitution C T intron_variant MELA-AU 5 63581849 63581849 single base substitution C T intron_variant MELA-AU 5 63581868 63581868 single base substitution C T intron_variant MELA-AU 5 63581979 63581979 single base substitution G A intron_variant MELA-AU 5 63582426 63582426 single base substitution A C intron_variant MELA-AU 5 63582499 63582499 single base substitution G A intron_variant MELA-AU 5 63582584 63582584 single base substitution G A intron_variant MELA-AU 5 63582689 63582689 single base substitution C T intron_variant MELA-AU 5 63582803 63582803 single base substitution T C intron_variant MELA-AU 5 63583092 63583092 single base substitution C T intron_variant MELA-AU 5 63583093 63583093 single base substitution G A intron_variant MELA-AU 5 63583165 63583165 single base substitution C G intron_variant MELA-AU 5 63583225 63583225 single base substitution G A intron_variant MELA-AU 5 63583309 63583309 single base substitution A C intron_variant MELA-AU 5 63583325 63583325 single base substitution A G intron_variant MELA-AU 5 63583788 63583788 single base substitution C T intron_variant MELA-AU 5 63583838 63583838 single base substitution C T intron_variant MELA-AU 5 63583920 63583920 single base substitution G A intron_variant MELA-AU 5 63584063 63584063 single base substitution A G intron_variant MELA-AU 5 63584230 63584230 single base substitution G A intron_variant MELA-AU 5 63584369 63584369 single base substitution C T intron_variant MELA-AU 5 63584376 63584376 single base substitution T A intron_variant MELA-AU 5 63584393 63584393 single base substitution C T intron_variant MELA-AU 5 63584509 63584509 single base substitution T G intron_variant MELA-AU 5 63584838 63584838 single base substitution G A intron_variant MELA-AU 5 63585002 63585002 single base substitution T C intron_variant MELA-AU 5 63585047 63585047 single base substitution C T intron_variant MELA-AU 5 63585567 63585567 single base substitution C T intron_variant MELA-AU 5 63585591 63585591 single base substitution C T intron_variant MELA-AU 5 63585694 63585694 single base substitution G A intron_variant MELA-AU 5 63585713 63585713 single base substitution C T intron_variant MELA-AU 5 63585861 63585861 single base substitution C T intron_variant MELA-AU 5 63585932 63585932 single base substitution A G intron_variant MELA-AU 5 63586507 63586507 single base substitution G A intron_variant MELA-AU 5 63586563 63586563 single base substitution C T intron_variant MELA-AU 5 63586843 63586843 single base substitution A T intron_variant MELA-AU 5 63587048 63587048 single base substitution C T intron_variant MELA-AU 5 63587220 63587220 single base substitution G A intron_variant MELA-AU 5 63587231 63587231 single base substitution G A intron_variant MELA-AU 5 63587282 63587282 single base substitution C T intron_variant MELA-AU 5 63587386 63587386 single base substitution G A intron_variant MELA-AU 5 63587470 63587470 single base substitution G A intron_variant MELA-AU 5 63587475 63587475 single base substitution C T intron_variant MELA-AU 5 63587652 63587652 single base substitution G A intron_variant MELA-AU 5 63587655 63587655 single base substitution G A intron_variant MELA-AU 5 63587664 63587664 single base substitution C T intron_variant MELA-AU 5 63587674 63587674 single base substitution C T intron_variant MELA-AU 5 63587779 63587779 single base substitution G A intron_variant MELA-AU 5 63587926 63587926 single base substitution C T intron_variant MELA-AU 5 63587978 63587978 single base substitution C T intron_variant MELA-AU 5 63588227 63588228 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 63588285 63588285 single base substitution G A intron_variant MELA-AU 5 63588323 63588323 single base substitution C T intron_variant MELA-AU 5 63588434 63588434 single base substitution G A intron_variant MELA-AU 5 63588588 63588588 single base substitution C T intron_variant MELA-AU 5 63588600 63588600 single base substitution G T intron_variant MELA-AU 5 63588623 63588623 single base substitution C T intron_variant MELA-AU 5 63588634 63588634 single base substitution C T intron_variant MELA-AU 5 63588643 63588643 single base substitution C T intron_variant MELA-AU 5 63588659 63588659 single base substitution G A intron_variant MELA-AU 5 63588665 63588665 single base substitution C T intron_variant MELA-AU 5 63588795 63588795 single base substitution C T intron_variant MELA-AU 5 63588827 63588827 single base substitution C T intron_variant MELA-AU 5 63588912 63588912 single base substitution G A intron_variant MELA-AU 5 63588918 63588918 single base substitution C T intron_variant MELA-AU 5 63589057 63589057 single base substitution C T intron_variant MELA-AU 5 63589073 63589073 single base substitution C T intron_variant MELA-AU 5 63589144 63589144 single base substitution A T intron_variant MELA-AU 5 63589155 63589156 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 63589220 63589221 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 63589270 63589270 single base substitution C T intron_variant MELA-AU 5 63589308 63589308 single base substitution C T intron_variant MELA-AU 5 63589386 63589386 single base substitution C T intron_variant MELA-AU 5 63589494 63589494 single base substitution C T intron_variant MELA-AU 5 63589677 63589677 single base substitution T A intron_variant MELA-AU 5 63589893 63589893 single base substitution T A intron_variant MELA-AU 5 63590097 63590097 single base substitution C T intron_variant MELA-AU 5 63590115 63590115 single base substitution C T intron_variant MELA-AU 5 63590422 63590422 single base substitution A G intron_variant MELA-AU 5 63590434 63590434 single base substitution C T intron_variant MELA-AU 5 63590520 63590520 single base substitution C T intron_variant MELA-AU 5 63590575 63590575 single base substitution C T intron_variant MELA-AU 5 63590684 63590684 single base substitution G A intron_variant MELA-AU 5 63590733 63590733 single base substitution G A intron_variant MELA-AU 5 63591086 63591086 single base substitution C T intron_variant MELA-AU 5 63591144 63591144 single base substitution C T intron_variant MELA-AU 5 63591429 63591429 single base substitution C T intron_variant MELA-AU 5 63591430 63591430 single base substitution C T intron_variant MELA-AU 5 63591553 63591553 single base substitution C T intron_variant MELA-AU 5 63591805 63591805 single base substitution C T intron_variant MELA-AU 5 63591912 63591912 single base substitution C T intron_variant MELA-AU 5 63591938 63591938 single base substitution A G intron_variant MELA-AU 5 63591951 63591951 single base substitution G A intron_variant MELA-AU 5 63592028 63592028 single base substitution G A intron_variant MELA-AU 5 63592221 63592221 single base substitution C T intron_variant MELA-AU 5 63592296 63592296 single base substitution A G intron_variant MELA-AU 5 63592387 63592387 single base substitution G A intron_variant MELA-AU 5 63592555 63592555 single base substitution G C intron_variant MELA-AU 5 63592561 63592561 single base substitution C T intron_variant MELA-AU 5 63592747 63592747 single base substitution C T intron_variant MELA-AU 5 63592754 63592754 single base substitution C T intron_variant MELA-AU 5 63592902 63592902 single base substitution C T intron_variant MELA-AU 5 63593060 63593060 single base substitution C T intron_variant MELA-AU 5 63593215 63593215 single base substitution G A intron_variant MELA-AU 5 63593334 63593334 single base substitution C T intron_variant MELA-AU 5 63593335 63593335 single base substitution C T intron_variant MELA-AU 5 63593348 63593348 single base substitution C T intron_variant MELA-AU 5 63593352 63593352 single base substitution G A intron_variant MELA-AU 5 63593632 63593632 single base substitution G A intron_variant MELA-AU 5 63593650 63593650 single base substitution T A intron_variant MELA-AU 5 63593796 63593796 single base substitution G C intron_variant MELA-AU 5 63593813 63593813 single base substitution T A intron_variant MELA-AU 5 63593860 63593860 single base substitution C T intron_variant MELA-AU 5 63593878 63593878 single base substitution C T intron_variant MELA-AU 5 63593977 63593977 single base substitution G A intron_variant MELA-AU 5 63594028 63594028 single base substitution C T intron_variant MELA-AU 5 63594410 63594410 single base substitution G A intron_variant MELA-AU 5 63594510 63594510 single base substitution G A intron_variant MELA-AU 5 63594578 63594578 single base substitution G A intron_variant MELA-AU 5 63595776 63595776 single base substitution C T intron_variant MELA-AU 5 63595777 63595777 single base substitution C T intron_variant MELA-AU 5 63595810 63595810 single base substitution C T intron_variant MELA-AU 5 63596012 63596012 single base substitution G A intron_variant MELA-AU 5 63596353 63596353 single base substitution C T intron_variant MELA-AU 5 63596357 63596357 single base substitution G A intron_variant MELA-AU 5 63596478 63596478 single base substitution C T intron_variant MELA-AU 5 63596558 63596558 single base substitution C T intron_variant MELA-AU 5 63596648 63596648 single base substitution C T intron_variant MELA-AU 5 63596941 63596941 single base substitution A G intron_variant MELA-AU 5 63597091 63597091 single base substitution A T intron_variant MELA-AU 5 63597180 63597180 single base substitution C T intron_variant MELA-AU 5 63597934 63597934 single base substitution C T intron_variant MELA-AU 5 63598085 63598085 single base substitution G A intron_variant MELA-AU 5 63598465 63598465 single base substitution G A intron_variant MELA-AU 5 63598597 63598597 single base substitution G A intron_variant MELA-AU 5 63598831 63598831 single base substitution G A intron_variant MELA-AU 5 63599002 63599002 single base substitution C T intron_variant MELA-AU 5 63599048 63599048 single base substitution C T intron_variant MELA-AU 5 63599112 63599112 deletion of <=200bp A - intron_variant MELA-AU 5 63599126 63599126 single base substitution C T intron_variant MELA-AU 5 63599215 63599215 single base substitution G A intron_variant MELA-AU 5 63599346 63599346 single base substitution A G intron_variant MELA-AU 5 63599360 63599360 single base substitution G A intron_variant MELA-AU 5 63599406 63599406 single base substitution C T intron_variant MELA-AU 5 63599486 63599486 single base substitution G A intron_variant MELA-AU 5 63599573 63599573 single base substitution A C intron_variant MELA-AU 5 63599972 63599972 single base substitution G A intron_variant MELA-AU 5 63600096 63600096 single base substitution G A intron_variant MELA-AU 5 63600405 63600405 single base substitution A G intron_variant MELA-AU 5 63600630 63600630 single base substitution G A intron_variant MELA-AU 5 63600722 63600722 single base substitution C T intron_variant MELA-AU 5 63600745 63600745 single base substitution C T intron_variant MELA-AU 5 63600969 63600969 single base substitution G A intron_variant MELA-AU 5 63601337 63601337 single base substitution C T intron_variant MELA-AU 5 63601558 63601558 single base substitution C T intron_variant MELA-AU 5 63601768 63601769 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 5 63601972 63601972 single base substitution G A intron_variant MELA-AU 5 63602281 63602281 single base substitution G A intron_variant MELA-AU 5 63602314 63602314 single base substitution A G intron_variant MELA-AU 5 63602333 63602333 single base substitution G A intron_variant MELA-AU 5 63602346 63602346 single base substitution T C intron_variant MELA-AU 5 63602431 63602431 single base substitution G A intron_variant MELA-AU 5 63602550 63602550 single base substitution G A intron_variant MELA-AU 5 63602810 63602810 single base substitution A T intron_variant MELA-AU 5 63602885 63602885 single base substitution C A intron_variant MELA-AU 5 63602919 63602919 single base substitution G A intron_variant MELA-AU 5 63603479 63603479 single base substitution C T intron_variant MELA-AU 5 63603860 63603860 single base substitution G A intron_variant MELA-AU 5 63604152 63604152 single base substitution C T intron_variant MELA-AU 5 63604533 63604533 single base substitution G A intron_variant MELA-AU 5 63604728 63604728 single base substitution C T intron_variant MELA-AU 5 63604766 63604766 single base substitution C T intron_variant MELA-AU 5 63604909 63604909 single base substitution C T intron_variant MELA-AU 5 63604933 63604933 single base substitution C T intron_variant MELA-AU 5 63604968 63604968 single base substitution G A intron_variant MELA-AU 5 63604969 63604969 single base substitution G A intron_variant MELA-AU 5 63605000 63605000 single base substitution G A intron_variant MELA-AU 5 63605008 63605008 single base substitution G A intron_variant MELA-AU 5 63605416 63605416 single base substitution G T intron_variant MELA-AU 5 63605627 63605627 single base substitution A C intron_variant MELA-AU 5 63605972 63605972 single base substitution C T intron_variant MELA-AU 5 63606043 63606043 single base substitution G A intron_variant MELA-AU 5 63606141 63606141 single base substitution C T intron_variant MELA-AU 5 63606155 63606155 single base substitution C T intron_variant MELA-AU 5 63606541 63606541 single base substitution T C intron_variant MELA-AU 5 63606670 63606670 single base substitution C T intron_variant MELA-AU 5 63606793 63606794 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 63607231 63607231 single base substitution C T intron_variant MELA-AU 5 63607358 63607358 single base substitution C T intron_variant MELA-AU 5 63607378 63607378 single base substitution C T intron_variant MELA-AU 5 63607414 63607414 single base substitution C T intron_variant MELA-AU 5 63607438 63607438 single base substitution C T intron_variant MELA-AU 5 63607702 63607702 single base substitution G A intron_variant MELA-AU 5 63607751 63607751 single base substitution G A intron_variant MELA-AU 5 63608143 63608143 single base substitution G A intron_variant MELA-AU 5 63608152 63608152 single base substitution C T intron_variant MELA-AU 5 63608338 63608338 single base substitution G A intron_variant MELA-AU 5 63608698 63608698 single base substitution C T intron_variant MELA-AU 5 63608854 63608854 single base substitution G A intron_variant MELA-AU 5 63608999 63608999 single base substitution T G intron_variant MELA-AU 5 63609122 63609122 single base substitution C T intron_variant MELA-AU 5 63609630 63609630 single base substitution C T intron_variant MELA-AU 5 63609854 63609854 single base substitution C T intron_variant MELA-AU 5 63610027 63610027 single base substitution G A intron_variant MELA-AU 5 63610177 63610177 insertion of <=200bp - T intron_variant MELA-AU 5 63610177 63610177 single base substitution T A intron_variant MELA-AU 5 63610372 63610372 single base substitution C T intron_variant MELA-AU 5 63610482 63610482 single base substitution C T intron_variant MELA-AU 5 63610528 63610528 single base substitution G A intron_variant MELA-AU 5 63611189 63611189 single base substitution C T intron_variant MELA-AU 5 63611405 63611405 single base substitution C T intron_variant MELA-AU 5 63611489 63611489 single base substitution G A intron_variant MELA-AU 5 63611755 63611755 single base substitution C T intron_variant MELA-AU 5 63612123 63612123 single base substitution G A intron_variant MELA-AU 5 63612127 63612127 single base substitution T A intron_variant MELA-AU 5 63612134 63612134 single base substitution C G intron_variant MELA-AU 5 63612443 63612443 single base substitution G C intron_variant MELA-AU 5 63612910 63612910 single base substitution G A intron_variant MELA-AU 5 63612991 63612991 single base substitution A G intron_variant MELA-AU 5 63613493 63613493 single base substitution C T intron_variant MELA-AU 5 63613581 63613581 single base substitution A T intron_variant MELA-AU 5 63614215 63614215 single base substitution C T intron_variant MELA-AU 5 63614238 63614238 single base substitution C T intron_variant MELA-AU 5 63614419 63614419 single base substitution C T intron_variant MELA-AU 5 63614740 63614740 single base substitution C T intron_variant MELA-AU 5 63614948 63614948 single base substitution G A intron_variant MELA-AU 5 63615154 63615154 single base substitution C T intron_variant MELA-AU 5 63615173 63615173 single base substitution G A intron_variant MELA-AU 5 63615263 63615263 single base substitution T C intron_variant MELA-AU 5 63615404 63615404 single base substitution T A intron_variant MELA-AU 5 63615447 63615447 single base substitution C T intron_variant MELA-AU 5 63615455 63615455 single base substitution C A intron_variant MELA-AU 5 63615459 63615459 single base substitution G A intron_variant MELA-AU 5 63615488 63615488 single base substitution C T intron_variant MELA-AU 5 63615757 63615757 single base substitution G A intron_variant MELA-AU 5 63615825 63615825 single base substitution C T intron_variant MELA-AU 5 63615908 63615908 single base substitution G A intron_variant MELA-AU 5 63616244 63616244 single base substitution G A intron_variant MELA-AU 5 63616278 63616278 single base substitution C T intron_variant MELA-AU 5 63616350 63616350 single base substitution G A intron_variant MELA-AU 5 63616682 63616683 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 63616775 63616775 single base substitution G A intron_variant MELA-AU 5 63616818 63616818 single base substitution T G intron_variant MELA-AU 5 63616819 63616819 single base substitution C T intron_variant MELA-AU 5 63616841 63616841 single base substitution G A intron_variant MELA-AU 5 63616843 63616843 single base substitution G A intron_variant MELA-AU 5 63616910 63616910 single base substitution A C intron_variant MELA-AU 5 63617081 63617081 single base substitution G A intron_variant MELA-AU 5 63617192 63617192 single base substitution C T intron_variant MELA-AU 5 63617420 63617420 single base substitution C T intron_variant MELA-AU 5 63617501 63617501 single base substitution C T intron_variant MELA-AU 5 63617688 63617688 single base substitution C T intron_variant MELA-AU 5 63617706 63617706 single base substitution C T intron_variant MELA-AU 5 63617739 63617739 single base substitution G A intron_variant MELA-AU 5 63617745 63617745 single base substitution C T intron_variant MELA-AU 5 63617746 63617746 single base substitution C A intron_variant MELA-AU 5 63618350 63618350 single base substitution G A intron_variant MELA-AU 5 63618415 63618415 single base substitution G A intron_variant MELA-AU 5 63619147 63619147 single base substitution C T intron_variant MELA-AU 5 63619178 63619178 single base substitution G A intron_variant MELA-AU 5 63619319 63619319 single base substitution C T intron_variant MELA-AU 5 63619518 63619518 single base substitution G A intron_variant MELA-AU 5 63619521 63619521 single base substitution G A intron_variant MELA-AU 5 63619798 63619798 single base substitution G A intron_variant MELA-AU 5 63619866 63619866 single base substitution G A intron_variant MELA-AU 5 63619912 63619912 single base substitution G A intron_variant MELA-AU 5 63620061 63620061 single base substitution C T intron_variant MELA-AU 5 63620066 63620066 single base substitution C T intron_variant MELA-AU 5 63620315 63620315 single base substitution C T intron_variant MELA-AU 5 63620514 63620514 single base substitution C T intron_variant MELA-AU 5 63620526 63620526 single base substitution G A intron_variant MELA-AU 5 63620987 63620987 single base substitution G A intron_variant MELA-AU 5 63621125 63621125 single base substitution C T missense_variant P447L 1340C>T MELA-AU 5 63621231 63621231 single base substitution C T synonymous_variant F482F 1446C>T MELA-AU 5 63621499 63621499 single base substitution A G intron_variant MELA-AU 5 63621568 63621568 single base substitution C T intron_variant MELA-AU 5 63621593 63621593 single base substitution C T intron_variant MELA-AU 5 63621666 63621666 single base substitution T A intron_variant MELA-AU 5 63621800 63621800 single base substitution G A intron_variant MELA-AU 5 63622040 63622041 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 5 63622265 63622265 single base substitution C T intron_variant MELA-AU 5 63622364 63622364 single base substitution G A intron_variant MELA-AU 5 63622398 63622398 single base substitution T C intron_variant MELA-AU 5 63622414 63622414 single base substitution G A intron_variant MELA-AU 5 63622466 63622466 single base substitution G A intron_variant MELA-AU 5 63622506 63622506 single base substitution T A intron_variant MELA-AU 5 63622604 63622604 single base substitution T A intron_variant MELA-AU 5 63622631 63622631 single base substitution G A intron_variant MELA-AU 5 63622703 63622703 single base substitution G A intron_variant MELA-AU 5 63622889 63622889 single base substitution C T intron_variant MELA-AU 5 63623107 63623107 single base substitution C T intron_variant MELA-AU 5 63623129 63623129 single base substitution T C intron_variant MELA-AU 5 63623141 63623141 single base substitution C T intron_variant MELA-AU 5 63623252 63623252 single base substitution G A intron_variant MELA-AU 5 63623300 63623300 single base substitution T C intron_variant MELA-AU 5 63623364 63623364 single base substitution T A intron_variant MELA-AU 5 63623420 63623420 single base substitution C T intron_variant MELA-AU 5 63623479 63623479 single base substitution C T intron_variant MELA-AU 5 63623556 63623557 multiple base substitution (>=2bp and <=200bp) AG CA intron_variant MELA-AU 5 63623729 63623729 single base substitution C T intron_variant MELA-AU 5 63623853 63623853 single base substitution G A intron_variant MELA-AU 5 63623892 63623892 single base substitution G A intron_variant MELA-AU 5 63623930 63623930 single base substitution C T intron_variant MELA-AU 5 63623972 63623972 single base substitution C T intron_variant MELA-AU 5 63624030 63624030 single base substitution T A intron_variant MELA-AU 5 63624034 63624034 single base substitution G T intron_variant MELA-AU 5 63624085 63624085 single base substitution C T intron_variant MELA-AU 5 63624492 63624492 single base substitution T G intron_variant MELA-AU 5 63624548 63624548 single base substitution C T intron_variant MELA-AU 5 63624549 63624549 single base substitution C T intron_variant MELA-AU 5 63624746 63624746 single base substitution A C intron_variant MELA-AU 5 63624784 63624784 single base substitution C T intron_variant MELA-AU 5 63624929 63624929 single base substitution C T intron_variant MELA-AU 5 63625052 63625052 single base substitution C T intron_variant MELA-AU 5 63625558 63625558 single base substitution T A intron_variant MELA-AU 5 63625568 63625568 single base substitution T A intron_variant MELA-AU 5 63625605 63625605 single base substitution C T intron_variant MELA-AU 5 63625643 63625643 single base substitution G A intron_variant MELA-AU 5 63625983 63625983 single base substitution T A intron_variant MELA-AU 5 63626084 63626084 single base substitution C T intron_variant MELA-AU 5 63626233 63626233 single base substitution G A missense_variant G527S 1579G>A MELA-AU 5 63626378 63626378 single base substitution C T intron_variant MELA-AU 5 63626440 63626440 single base substitution C T intron_variant MELA-AU 5 63626510 63626510 single base substitution C T intron_variant MELA-AU 5 63626540 63626540 single base substitution T C intron_variant MELA-AU 5 63626593 63626593 single base substitution C T intron_variant MELA-AU 5 63626838 63626838 single base substitution C T intron_variant MELA-AU 5 63627153 63627153 single base substitution C T intron_variant MELA-AU 5 63627354 63627354 single base substitution C T intron_variant MELA-AU 5 63627468 63627468 single base substitution C T intron_variant MELA-AU 5 63627679 63627679 single base substitution C T intron_variant MELA-AU 5 63628073 63628074 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 63628302 63628302 single base substitution C T intron_variant MELA-AU 5 63628313 63628313 single base substitution T A intron_variant MELA-AU 5 63628587 63628587 single base substitution C T intron_variant MELA-AU 5 63629050 63629050 single base substitution G A intron_variant MELA-AU 5 63629129 63629129 single base substitution C A intron_variant MELA-AU 5 63629252 63629252 single base substitution C T intron_variant MELA-AU 5 63629344 63629344 single base substitution C T intron_variant MELA-AU 5 63629426 63629426 single base substitution C T intron_variant MELA-AU 5 63629462 63629462 single base substitution C G intron_variant MELA-AU 5 63629572 63629572 single base substitution C T intron_variant MELA-AU 5 63630397 63630397 single base substitution C T intron_variant MELA-AU 5 63630804 63630804 single base substitution C T intron_variant MELA-AU 5 63631240 63631240 single base substitution T C intron_variant MELA-AU 5 63631302 63631302 single base substitution C T intron_variant MELA-AU 5 63631346 63631346 single base substitution C T intron_variant MELA-AU 5 63631375 63631375 single base substitution C T intron_variant MELA-AU 5 63631472 63631472 single base substitution T A intron_variant MELA-AU 5 63631536 63631536 single base substitution C T intron_variant MELA-AU 5 63631734 63631734 single base substitution C T intron_variant MELA-AU 5 63631783 63631783 single base substitution T A intron_variant MELA-AU 5 63632133 63632133 single base substitution C T intron_variant MELA-AU 5 63632417 63632417 single base substitution A G intron_variant MELA-AU 5 63632531 63632531 single base substitution T G intron_variant MELA-AU 5 63632606 63632606 single base substitution C T intron_variant MELA-AU 5 63632713 63632713 single base substitution G A intron_variant MELA-AU 5 63632746 63632746 single base substitution C T intron_variant MELA-AU 5 63632786 63632786 single base substitution C T intron_variant MELA-AU 5 63633055 63633055 single base substitution T G intron_variant MELA-AU 5 63633069 63633069 single base substitution C T intron_variant MELA-AU 5 63633080 63633080 single base substitution C T intron_variant MELA-AU 5 63633081 63633081 single base substitution C T intron_variant MELA-AU 5 63633179 63633179 single base substitution C T intron_variant MELA-AU 5 63633200 63633200 single base substitution C T intron_variant MELA-AU 5 63633298 63633298 single base substitution C T intron_variant MELA-AU 5 63633399 63633399 single base substitution A G intron_variant MELA-AU 5 63633487 63633487 single base substitution C T intron_variant MELA-AU 5 63633639 63633639 single base substitution C T intron_variant MELA-AU 5 63633974 63633974 single base substitution G A intron_variant MELA-AU 5 63634148 63634148 single base substitution C T intron_variant MELA-AU 5 63634244 63634244 single base substitution G A intron_variant MELA-AU 5 63634385 63634385 single base substitution C T intron_variant MELA-AU 5 63634416 63634416 single base substitution C T intron_variant MELA-AU 5 63634990 63634990 single base substitution T C intron_variant MELA-AU 5 63634998 63634998 single base substitution C T intron_variant MELA-AU 5 63635117 63635117 single base substitution C T intron_variant MELA-AU 5 63635192 63635192 single base substitution C T intron_variant MELA-AU 5 63635212 63635212 single base substitution T A intron_variant MELA-AU 5 63635240 63635240 single base substitution T C intron_variant MELA-AU 5 63635393 63635393 single base substitution T C intron_variant MELA-AU 5 63635441 63635441 single base substitution G A intron_variant MELA-AU 5 63635602 63635602 single base substitution G A intron_variant MELA-AU 5 63635844 63635844 single base substitution C T intron_variant MELA-AU 5 63635939 63635939 single base substitution C T intron_variant MELA-AU 5 63636061 63636061 single base substitution C T intron_variant MELA-AU 5 63636483 63636483 single base substitution C T intron_variant MELA-AU 5 63636508 63636508 single base substitution C T intron_variant MELA-AU 5 63636631 63636631 single base substitution A T intron_variant MELA-AU 5 63636734 63636734 single base substitution C T intron_variant MELA-AU 5 63636791 63636791 single base substitution C T intron_variant MELA-AU 5 63636880 63636880 single base substitution G A intron_variant MELA-AU 5 63637188 63637188 single base substitution G A intron_variant MELA-AU 5 63637377 63637377 single base substitution C T intron_variant MELA-AU 5 63637597 63637597 single base substitution G A intron_variant MELA-AU 5 63637665 63637665 single base substitution G A intron_variant MELA-AU 5 63637930 63637930 single base substitution C T intron_variant MELA-AU 5 63637955 63637955 single base substitution C T intron_variant MELA-AU 5 63637991 63637991 single base substitution G A intron_variant MELA-AU 5 63638368 63638368 single base substitution C T intron_variant MELA-AU 5 63638370 63638370 single base substitution C T intron_variant MELA-AU 5 63638402 63638402 single base substitution C T intron_variant MELA-AU 5 63638508 63638509 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 63638654 63638654 single base substitution G A intron_variant MELA-AU 5 63638798 63638798 single base substitution T A intron_variant MELA-AU 5 63639162 63639162 single base substitution T C intron_variant MELA-AU 5 63639593 63639593 single base substitution C T intron_variant MELA-AU 5 63639787 63639787 single base substitution C T intron_variant MELA-AU 5 63639843 63639843 single base substitution G A intron_variant MELA-AU 5 63639935 63639935 single base substitution C T intron_variant MELA-AU 5 63639967 63639967 single base substitution C T intron_variant MELA-AU 5 63640157 63640157 single base substitution G A intron_variant MELA-AU 5 63640361 63640361 single base substitution A G intron_variant MELA-AU 5 63640363 63640363 single base substitution C A intron_variant MELA-AU 5 63640392 63640392 single base substitution C T intron_variant MELA-AU 5 63640744 63640744 single base substitution G A intron_variant MELA-AU 5 63640746 63640746 single base substitution A G intron_variant MELA-AU 5 63640876 63640876 single base substitution C T intron_variant MELA-AU 5 63640951 63640951 single base substitution C T intron_variant MELA-AU 5 63641031 63641031 single base substitution G A intron_variant MELA-AU 5 63641674 63641674 single base substitution C T intron_variant MELA-AU 5 63641758 63641758 single base substitution T A intron_variant MELA-AU 5 63641849 63641849 single base substitution A C intron_variant MELA-AU 5 63641959 63641959 single base substitution C T intron_variant MELA-AU 5 63642009 63642009 single base substitution A T intron_variant MELA-AU 5 63642033 63642033 single base substitution C T intron_variant MELA-AU 5 63642073 63642073 single base substitution G A intron_variant MELA-AU 5 63643034 63643034 single base substitution G A intron_variant MELA-AU 5 63643254 63643254 single base substitution G A intron_variant MELA-AU 5 63643262 63643262 single base substitution C T intron_variant MELA-AU 5 63643275 63643275 single base substitution T A intron_variant MELA-AU 5 63643395 63643395 single base substitution C T intron_variant MELA-AU 5 63643509 63643509 single base substitution G A intron_variant MELA-AU 5 63643590 63643590 single base substitution G A intron_variant MELA-AU 5 63643823 63643823 single base substitution C T intron_variant MELA-AU 5 63643982 63643982 single base substitution C T intron_variant MELA-AU 5 63644026 63644026 single base substitution C T intron_variant MELA-AU 5 63644085 63644085 single base substitution C T intron_variant MELA-AU 5 63644089 63644089 single base substitution C T intron_variant MELA-AU 5 63644328 63644328 single base substitution C T intron_variant MELA-AU 5 63644395 63644395 single base substitution G C intron_variant MELA-AU 5 63644432 63644432 single base substitution G A intron_variant MELA-AU 5 63644626 63644626 single base substitution A G intron_variant MELA-AU 5 63644718 63644718 single base substitution A T intron_variant MELA-AU 5 63644892 63644892 single base substitution G A intron_variant MELA-AU 5 63644937 63644937 single base substitution C G intron_variant MELA-AU 5 63645056 63645056 single base substitution C T intron_variant MELA-AU 5 63645356 63645356 single base substitution C T intron_variant MELA-AU 5 63645408 63645408 single base substitution C T intron_variant MELA-AU 5 63645459 63645459 single base substitution C T intron_variant MELA-AU 5 63645560 63645560 single base substitution C T intron_variant MELA-AU 5 63645585 63645585 single base substitution G A intron_variant MELA-AU 5 63645590 63645590 single base substitution G A intron_variant MELA-AU 5 63645622 63645622 single base substitution C T intron_variant MELA-AU 5 63645654 63645654 single base substitution C T intron_variant MELA-AU 5 63645678 63645678 single base substitution G A intron_variant MELA-AU 5 63645763 63645763 single base substitution C T intron_variant MELA-AU 5 63645989 63645989 single base substitution G A intron_variant MELA-AU 5 63646198 63646198 single base substitution C T intron_variant MELA-AU 5 63646202 63646202 single base substitution C T intron_variant MELA-AU 5 63646321 63646321 single base substitution C T intron_variant MELA-AU 5 63647120 63647120 single base substitution G A intron_variant MELA-AU 5 63647202 63647202 single base substitution C T intron_variant MELA-AU 5 63647242 63647242 single base substitution C T intron_variant MELA-AU 5 63647544 63647544 single base substitution C T intron_variant MELA-AU 5 63647669 63647669 single base substitution C T intron_variant MELA-AU 5 63647724 63647724 single base substitution C T intron_variant MELA-AU 5 63647836 63647836 single base substitution C T intron_variant MELA-AU 5 63647848 63647848 single base substitution C T intron_variant MELA-AU 5 63648021 63648021 single base substitution G C intron_variant MELA-AU 5 63648227 63648227 single base substitution C T intron_variant MELA-AU 5 63648251 63648251 single base substitution T G intron_variant MELA-AU 5 63648552 63648552 single base substitution C T intron_variant MELA-AU 5 63649104 63649104 single base substitution C T intron_variant MELA-AU 5 63649253 63649253 single base substitution G A intron_variant MELA-AU 5 63649516 63649516 single base substitution T C intron_variant MELA-AU 5 63649550 63649550 single base substitution C T intron_variant MELA-AU 5 63649571 63649571 single base substitution T C intron_variant MELA-AU 5 63649579 63649579 single base substitution G T intron_variant MELA-AU 5 63649633 63649633 single base substitution C T intron_variant MELA-AU 5 63649845 63649845 single base substitution A G intron_variant MELA-AU 5 63650012 63650012 single base substitution G A intron_variant MELA-AU 5 63650136 63650136 single base substitution G A intron_variant MELA-AU 5 63650215 63650215 single base substitution G A intron_variant MELA-AU 5 63650495 63650495 single base substitution G A intron_variant MELA-AU 5 63650515 63650515 single base substitution C T intron_variant MELA-AU 5 63650554 63650554 single base substitution G A intron_variant MELA-AU 5 63650585 63650585 single base substitution C T intron_variant MELA-AU 5 63650589 63650589 single base substitution G A intron_variant MELA-AU 5 63650780 63650780 single base substitution C T intron_variant MELA-AU 5 63650933 63650933 single base substitution G A intron_variant MELA-AU 5 63651064 63651064 single base substitution G A intron_variant MELA-AU 5 63651233 63651233 single base substitution G A intron_variant MELA-AU 5 63651305 63651305 single base substitution C T intron_variant MELA-AU 5 63651398 63651398 single base substitution C T intron_variant MELA-AU 5 63651414 63651414 single base substitution G A intron_variant MELA-AU 5 63651610 63651610 single base substitution C T intron_variant MELA-AU 5 63651645 63651645 single base substitution A T intron_variant MELA-AU 5 63651889 63651889 single base substitution C T intron_variant MELA-AU 5 63651951 63651951 single base substitution G A intron_variant MELA-AU 5 63651970 63651970 single base substitution C T intron_variant MELA-AU 5 63651984 63651984 single base substitution G A intron_variant MELA-AU 5 63652028 63652028 single base substitution G A intron_variant MELA-AU 5 63652205 63652205 single base substitution G A intron_variant MELA-AU 5 63652230 63652230 single base substitution T C intron_variant MELA-AU 5 63652230 63652230 single base substitution T G intron_variant MELA-AU 5 63652238 63652238 single base substitution G A intron_variant MELA-AU 5 63652419 63652419 single base substitution A G intron_variant MELA-AU 5 63652432 63652432 single base substitution C T intron_variant MELA-AU 5 63652451 63652451 single base substitution T A intron_variant MELA-AU 5 63652602 63652602 single base substitution C T intron_variant MELA-AU 5 63652610 63652610 single base substitution C T intron_variant MELA-AU 5 63652780 63652780 single base substitution T G intron_variant MELA-AU 5 63652858 63652858 single base substitution C T intron_variant MELA-AU 5 63652907 63652907 single base substitution C T intron_variant MELA-AU 5 63653016 63653016 single base substitution C T intron_variant MELA-AU 5 63653181 63653181 single base substitution C T intron_variant MELA-AU 5 63653226 63653226 single base substitution C T intron_variant MELA-AU 5 63653281 63653281 single base substitution G A intron_variant MELA-AU 5 63653287 63653287 single base substitution C T intron_variant MELA-AU 5 63653345 63653345 single base substitution C T intron_variant MELA-AU 5 63653603 63653603 single base substitution G A intron_variant MELA-AU 5 63653614 63653614 single base substitution C T intron_variant MELA-AU 5 63653632 63653632 single base substitution G A intron_variant MELA-AU 5 63653777 63653777 single base substitution C T intron_variant MELA-AU 5 63653833 63653833 single base substitution G A intron_variant MELA-AU 5 63653838 63653838 single base substitution T C intron_variant MELA-AU 5 63653870 63653870 single base substitution C T intron_variant MELA-AU 5 63653888 63653888 single base substitution C T intron_variant MELA-AU 5 63653921 63653921 single base substitution C T intron_variant MELA-AU 5 63653927 63653927 single base substitution G C intron_variant MELA-AU 5 63653932 63653932 single base substitution C T intron_variant MELA-AU 5 63654014 63654014 single base substitution G A intron_variant MELA-AU 5 63654105 63654105 single base substitution C T intron_variant MELA-AU 5 63654172 63654172 single base substitution C T intron_variant MELA-AU 5 63654180 63654180 single base substitution C T intron_variant MELA-AU 5 63654327 63654327 single base substitution T C intron_variant MELA-AU 5 63654397 63654397 single base substitution C T intron_variant MELA-AU 5 63654609 63654609 single base substitution C T intron_variant MELA-AU 5 63655231 63655231 single base substitution C T intron_variant MELA-AU 5 63655805 63655805 single base substitution C T intron_variant MELA-AU 5 63655965 63655965 single base substitution G A intron_variant MELA-AU 5 63656186 63656186 single base substitution C T intron_variant MELA-AU 5 63656193 63656193 single base substitution C T intron_variant MELA-AU 5 63656283 63656283 single base substitution G A intron_variant MELA-AU 5 63656419 63656419 single base substitution C T intron_variant MELA-AU 5 63656426 63656426 single base substitution G A intron_variant MELA-AU 5 63656526 63656526 single base substitution C T intron_variant MELA-AU 5 63656532 63656532 single base substitution C T intron_variant MELA-AU 5 63656673 63656673 single base substitution C T intron_variant MELA-AU 5 63656707 63656707 single base substitution G A intron_variant MELA-AU 5 63656855 63656855 single base substitution C T intron_variant MELA-AU 5 63657084 63657084 single base substitution C T intron_variant MELA-AU 5 63657123 63657123 single base substitution T C intron_variant MELA-AU 5 63657539 63657539 single base substitution C T intron_variant MELA-AU 5 63657622 63657622 single base substitution C T intron_variant MELA-AU 5 63657629 63657629 single base substitution A C intron_variant MELA-AU 5 63657945 63657956 deletion of <=200bp ATGTGCAAGTTT - intron_variant MELA-AU 5 63658062 63658063 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 5 63658100 63658100 single base substitution G T intron_variant MELA-AU 5 63658117 63658117 single base substitution C T intron_variant MELA-AU 5 63658227 63658227 single base substitution C T intron_variant MELA-AU 5 63658463 63658463 single base substitution C T intron_variant MELA-AU 5 63658482 63658482 single base substitution G A intron_variant MELA-AU 5 63658583 63658583 single base substitution T C intron_variant MELA-AU 5 63658665 63658665 single base substitution C T intron_variant MELA-AU 5 63658798 63658798 single base substitution G A intron_variant MELA-AU 5 63659031 63659031 single base substitution C T intron_variant MELA-AU 5 63659118 63659118 single base substitution C T intron_variant MELA-AU 5 63659175 63659175 single base substitution G A intron_variant MELA-AU 5 63659206 63659206 single base substitution C T intron_variant MELA-AU 5 63659400 63659400 single base substitution C T intron_variant MELA-AU 5 63659433 63659433 single base substitution T A intron_variant MELA-AU 5 63659560 63659560 single base substitution C T intron_variant MELA-AU 5 63659632 63659632 single base substitution C T intron_variant MELA-AU 5 63659684 63659684 single base substitution G T intron_variant MELA-AU 5 63659879 63659879 single base substitution C T intron_variant MELA-AU 5 63659884 63659884 single base substitution C T intron_variant MELA-AU 5 63659902 63659902 single base substitution C T intron_variant MELA-AU 5 63660049 63660049 single base substitution C T intron_variant MELA-AU 5 63660053 63660053 single base substitution G A intron_variant MELA-AU 5 63660132 63660132 single base substitution G A intron_variant MELA-AU 5 63660235 63660235 single base substitution C T intron_variant MELA-AU 5 63660358 63660358 single base substitution T A intron_variant MELA-AU 5 63660432 63660432 single base substitution G T intron_variant MELA-AU 5 63660588 63660588 single base substitution C T intron_variant MELA-AU 5 63660638 63660638 single base substitution C T intron_variant MELA-AU 5 63660701 63660701 single base substitution C T intron_variant MELA-AU 5 63660731 63660731 single base substitution C T intron_variant MELA-AU 5 63660791 63660791 single base substitution T A intron_variant MELA-AU 5 63660827 63660827 single base substitution C T intron_variant MELA-AU 5 63661027 63661027 single base substitution C T intron_variant MELA-AU 5 63661041 63661041 single base substitution C T intron_variant MELA-AU 5 63661055 63661055 single base substitution A T intron_variant MELA-AU 5 63661100 63661100 single base substitution C T intron_variant MELA-AU 5 63661125 63661125 single base substitution C T intron_variant MELA-AU 5 63661152 63661152 single base substitution C T intron_variant MELA-AU 5 63661418 63661418 single base substitution C T intron_variant MELA-AU 5 63661608 63661608 single base substitution C A intron_variant MELA-AU 5 63661640 63661640 single base substitution C T intron_variant MELA-AU 5 63661669 63661669 single base substitution C T intron_variant MELA-AU 5 63661688 63661688 single base substitution G A intron_variant MELA-AU 5 63661735 63661735 single base substitution A G intron_variant MELA-AU 5 63661897 63661897 single base substitution G A intron_variant MELA-AU 5 63662040 63662040 single base substitution C T intron_variant MELA-AU 5 63662079 63662079 single base substitution C T intron_variant MELA-AU 5 63662080 63662080 single base substitution G A intron_variant MELA-AU 5 63662082 63662082 single base substitution G C intron_variant MELA-AU 5 63662197 63662197 single base substitution C T intron_variant MELA-AU 5 63662296 63662296 single base substitution C T intron_variant MELA-AU 5 63662392 63662392 single base substitution C T intron_variant MELA-AU 5 63662534 63662534 single base substitution G A intron_variant MELA-AU 5 63662614 63662614 single base substitution G A intron_variant MELA-AU 5 63662645 63662645 single base substitution G A intron_variant MELA-AU 5 63662654 63662654 single base substitution G A intron_variant MELA-AU 5 63662801 63662801 single base substitution G A intron_variant MELA-AU 5 63662804 63662804 single base substitution A T intron_variant MELA-AU 5 63662853 63662853 single base substitution C T intron_variant MELA-AU 5 63662904 63662904 single base substitution G A intron_variant MELA-AU 5 63662949 63662949 single base substitution C T intron_variant MELA-AU 5 63662963 63662963 single base substitution G T intron_variant MELA-AU 5 63663077 63663077 single base substitution C T intron_variant MELA-AU 5 63663141 63663141 single base substitution G A intron_variant MELA-AU 5 63663201 63663201 single base substitution C T intron_variant MELA-AU 5 63663302 63663302 single base substitution C T intron_variant MELA-AU 5 63663349 63663349 single base substitution C T intron_variant MELA-AU 5 63663370 63663370 single base substitution C T intron_variant MELA-AU 5 63663445 63663445 single base substitution A G intron_variant MELA-AU 5 63663478 63663479 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 63663727 63663727 single base substitution G A intron_variant MELA-AU 5 63663799 63663799 single base substitution C T intron_variant MELA-AU 5 63663986 63663986 single base substitution C A intron_variant MELA-AU 5 63664011 63664011 single base substitution C T intron_variant MELA-AU 5 63664127 63664127 single base substitution G A intron_variant MELA-AU 5 63664139 63664139 single base substitution G A intron_variant MELA-AU 5 63664220 63664220 single base substitution C T intron_variant MELA-AU 5 63664329 63664329 single base substitution C T intron_variant MELA-AU 5 63664351 63664351 single base substitution C T intron_variant MELA-AU 5 63664811 63664811 single base substitution C T intron_variant MELA-AU 5 63665070 63665070 single base substitution A G intron_variant MELA-AU 5 63665080 63665080 single base substitution C T intron_variant MELA-AU 5 63665081 63665081 single base substitution G A intron_variant MELA-AU 5 63665112 63665112 single base substitution G A intron_variant MELA-AU 5 63665299 63665299 single base substitution A G intron_variant MELA-AU 5 63665342 63665342 single base substitution G A intron_variant MELA-AU 5 63665648 63665648 single base substitution C T 3_prime_UTR_variant MELA-AU 5 63665672 63665672 single base substitution C T 3_prime_UTR_variant MELA-AU 5 63665803 63665803 single base substitution C T 3_prime_UTR_variant MELA-AU 5 63665829 63665829 single base substitution G A 3_prime_UTR_variant MELA-AU 5 63666344 63666344 single base substitution T C 3_prime_UTR_variant MELA-AU 5 63666546 63666546 single base substitution T C 3_prime_UTR_variant MELA-AU 5 63666793 63666793 single base substitution C T 3_prime_UTR_variant MELA-AU 5 63666835 63666835 single base substitution C T 3_prime_UTR_variant MELA-AU 5 63666990 63666990 single base substitution T A 3_prime_UTR_variant MELA-AU 5 63667159 63667177 deletion of <=200bp AAAATATATAGCAAGATTG - 3_prime_UTR_variant MELA-AU 5 63667233 63667233 single base substitution C T 3_prime_UTR_variant MELA-AU 5 63667763 63667763 single base substitution G A 3_prime_UTR_variant MELA-AU 5 63667985 63667985 single base substitution T G 3_prime_UTR_variant MELA-AU 5 63668134 63668134 single base substitution G A 3_prime_UTR_variant MELA-AU 5 63668213 63668213 single base substitution C T 3_prime_UTR_variant MELA-AU 5 63668234 63668234 single base substitution C T 3_prime_UTR_variant MELA-AU 5 63668387 63668387 single base substitution C T 3_prime_UTR_variant MELA-AU 5 63668702 63668702 single base substitution G A downstream_gene_variant MELA-AU 5 63668737 63668737 single base substitution C T downstream_gene_variant MELA-AU 5 63668881 63668881 single base substitution C T downstream_gene_variant MELA-AU 5 63668894 63668894 single base substitution G A downstream_gene_variant MELA-AU 5 63668894 63668894 single base substitution G T downstream_gene_variant MELA-AU 5 63668922 63668922 single base substitution G A downstream_gene_variant MELA-AU 5 63668961 63668961 single base substitution T A downstream_gene_variant MELA-AU 5 63669343 63669343 single base substitution C T downstream_gene_variant MELA-AU 5 63669372 63669372 single base substitution G A downstream_gene_variant MELA-AU 5 63669396 63669396 single base substitution G A downstream_gene_variant MELA-AU 5 63669430 63669430 single base substitution C T downstream_gene_variant MELA-AU 5 63669477 63669477 single base substitution G T downstream_gene_variant MELA-AU 5 63669499 63669499 single base substitution C T downstream_gene_variant MELA-AU 5 63669736 63669736 single base substitution C T downstream_gene_variant MELA-AU 5 63669857 63669857 single base substitution T A downstream_gene_variant MELA-AU 5 63669859 63669859 single base substitution C T downstream_gene_variant MELA-AU 5 63669882 63669882 single base substitution C T downstream_gene_variant MELA-AU 5 63669920 63669920 single base substitution C T downstream_gene_variant MELA-AU 5 63670035 63670035 single base substitution T C downstream_gene_variant MELA-AU 5 63670062 63670062 single base substitution C T downstream_gene_variant MELA-AU 5 63670106 63670106 single base substitution C T downstream_gene_variant MELA-AU 5 63670126 63670126 single base substitution C A downstream_gene_variant MELA-AU 5 63670159 63670159 single base substitution T A downstream_gene_variant MELA-AU 5 63670165 63670165 single base substitution T C downstream_gene_variant MELA-AU 5 63670326 63670326 single base substitution C T downstream_gene_variant MELA-AU 5 63670355 63670355 single base substitution T A downstream_gene_variant MELA-AU 5 63670381 63670381 single base substitution G A downstream_gene_variant MELA-AU 5 63670397 63670397 single base substitution C T downstream_gene_variant MELA-AU 5 63670851 63670851 single base substitution G A downstream_gene_variant MELA-AU 5 63670990 63670990 single base substitution C T downstream_gene_variant MELA-AU 5 63671033 63671033 single base substitution G A downstream_gene_variant MELA-AU 5 63671075 63671075 single base substitution G A downstream_gene_variant MELA-AU 5 63671230 63671230 single base substitution C T downstream_gene_variant MELA-AU 5 63671245 63671245 single base substitution C T downstream_gene_variant MELA-AU 5 63671246 63671246 single base substitution C T downstream_gene_variant MELA-AU 5 63671504 63671504 single base substitution C T downstream_gene_variant MELA-AU 5 63671509 63671509 single base substitution G A downstream_gene_variant MELA-AU 5 63671543 63671543 single base substitution G A downstream_gene_variant MELA-AU 5 63671773 63671773 single base substitution C T downstream_gene_variant MELA-AU 5 63671824 63671824 single base substitution C T downstream_gene_variant MELA-AU 5 63671885 63671885 single base substitution C A downstream_gene_variant MELA-AU 5 63671950 63671950 single base substitution C T downstream_gene_variant MELA-AU 5 63671951 63671951 single base substitution C T downstream_gene_variant MELA-AU 5 63671951 63671952 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 63671994 63671994 single base substitution T C downstream_gene_variant MELA-AU 5 63672048 63672048 single base substitution G A downstream_gene_variant MELA-AU 5 63672166 63672166 single base substitution C T downstream_gene_variant MELA-AU 5 63672167 63672167 single base substitution A G downstream_gene_variant MELA-AU 5 63672557 63672557 single base substitution C T downstream_gene_variant MELA-AU 5 63672776 63672776 single base substitution G A downstream_gene_variant MELA-AU 5 63672884 63672884 single base substitution G A downstream_gene_variant MELA-AU 5 63673009 63673009 single base substitution C T downstream_gene_variant MELA-AU 5 63673434 63673434 single base substitution C T downstream_gene_variant MELA-AU 5 63673455 63673455 single base substitution G A downstream_gene_variant MELA-AU 5 63673546 63673546 single base substitution G A downstream_gene_variant MELA-AU 5 63673669 63673669 single base substitution T A downstream_gene_variant ORCA-IN 5 63473248 63473248 single base substitution G A intron_variant ORCA-IN 5 63478942 63478942 single base substitution C G intron_variant ORCA-IN 5 63483007 63483007 single base substitution A C intron_variant ORCA-IN 5 63500890 63500890 single base substitution C G intron_variant ORCA-IN 5 63509439 63509439 single base substitution G T intron_variant ORCA-IN 5 63509439 63509439 single base substitution G T missense_variant G96C 286G>T ORCA-IN 5 63509836 63509836 single base substitution C A downstream_gene_variant ORCA-IN 5 63509836 63509836 single base substitution C A intron_variant ORCA-IN 5 63509836 63509836 single base substitution C A stop_gained S228* 683C>A ORCA-IN 5 63511147 63511147 single base substitution G T downstream_gene_variant ORCA-IN 5 63511147 63511147 single base substitution G T intron_variant ORCA-IN 5 63516766 63516766 single base substitution G T downstream_gene_variant ORCA-IN 5 63516766 63516766 single base substitution G T intron_variant ORCA-IN 5 63530174 63530174 single base substitution T G intron_variant ORCA-IN 5 63542674 63542674 single base substitution G T intron_variant ORCA-IN 5 63550866 63550866 single base substitution G A intron_variant ORCA-IN 5 63563566 63563566 single base substitution T C intron_variant ORCA-IN 5 63566454 63566454 single base substitution G A intron_variant ORCA-IN 5 63567596 63567596 insertion of <=200bp - AAAC intron_variant ORCA-IN 5 63573289 63573289 single base substitution G A intron_variant ORCA-IN 5 63575136 63575136 single base substitution G A intron_variant ORCA-IN 5 63583293 63583293 single base substitution G C intron_variant ORCA-IN 5 63607765 63607765 single base substitution G T intron_variant ORCA-IN 5 63623467 63623467 single base substitution T G intron_variant ORCA-IN 5 63627172 63627172 single base substitution C T intron_variant ORCA-IN 5 63657703 63657703 single base substitution C T intron_variant ORCA-IN 5 63663498 63663498 single base substitution C T intron_variant ORCA-IN 5 63665442 63665442 single base substitution G T missense_variant G527V 1580G>T OV-AU 5 63458070 63458070 single base substitution G A upstream_gene_variant OV-AU 5 63460149 63460149 single base substitution G A upstream_gene_variant OV-AU 5 63465497 63465497 single base substitution G A intron_variant OV-AU 5 63466020 63466020 single base substitution G T intron_variant OV-AU 5 63467884 63467884 single base substitution G A intron_variant OV-AU 5 63477139 63477139 single base substitution A G intron_variant OV-AU 5 63478017 63478017 single base substitution A T intron_variant OV-AU 5 63482927 63482927 single base substitution G A intron_variant OV-AU 5 63484771 63484771 single base substitution T A intron_variant OV-AU 5 63496765 63496765 single base substitution T C missense_variant I44T 131T>C OV-AU 5 63497924 63497924 single base substitution C T intron_variant OV-AU 5 63509117 63509117 single base substitution C T intron_variant OV-AU 5 63511672 63511672 single base substitution T G downstream_gene_variant OV-AU 5 63511672 63511672 single base substitution T G intron_variant OV-AU 5 63516514 63516514 single base substitution T G downstream_gene_variant OV-AU 5 63516514 63516514 single base substitution T G intron_variant OV-AU 5 63517007 63517007 single base substitution T G downstream_gene_variant OV-AU 5 63517007 63517007 single base substitution T G intron_variant OV-AU 5 63519553 63519553 single base substitution C A intron_variant OV-AU 5 63520590 63520590 single base substitution A G intron_variant OV-AU 5 63521044 63521044 single base substitution A T intron_variant OV-AU 5 63526317 63526317 single base substitution A T intron_variant OV-AU 5 63537124 63537124 single base substitution A T intron_variant OV-AU 5 63538410 63538410 single base substitution T C intron_variant OV-AU 5 63544250 63544250 single base substitution C G intron_variant OV-AU 5 63546085 63546085 single base substitution T G intron_variant OV-AU 5 63546190 63546190 single base substitution C A intron_variant OV-AU 5 63562777 63562777 single base substitution G C intron_variant OV-AU 5 63577255 63577255 single base substitution G T intron_variant OV-AU 5 63580193 63580193 single base substitution G T intron_variant OV-AU 5 63583172 63583172 single base substitution C A intron_variant OV-AU 5 63584213 63584213 single base substitution C G intron_variant OV-AU 5 63586607 63586607 single base substitution G A intron_variant OV-AU 5 63586836 63586836 single base substitution T A intron_variant OV-AU 5 63595396 63595396 single base substitution G A intron_variant OV-AU 5 63596781 63596781 single base substitution T A intron_variant OV-AU 5 63597139 63597139 single base substitution A G intron_variant OV-AU 5 63598886 63598886 single base substitution A T intron_variant OV-AU 5 63605579 63605579 single base substitution A G intron_variant OV-AU 5 63605695 63605695 single base substitution T A intron_variant OV-AU 5 63619225 63619225 single base substitution G T intron_variant OV-AU 5 63631023 63631023 single base substitution G A intron_variant OV-AU 5 63633602 63633602 single base substitution C A intron_variant OV-AU 5 63636649 63636649 single base substitution A G intron_variant OV-AU 5 63637867 63637867 single base substitution C T intron_variant OV-AU 5 63642778 63642778 single base substitution A G intron_variant OV-AU 5 63645709 63645709 single base substitution G A intron_variant OV-AU 5 63653025 63653025 single base substitution T C intron_variant OV-AU 5 63659746 63659746 single base substitution G A intron_variant OV-AU 5 63661586 63661586 single base substitution T C intron_variant OV-AU 5 63664491 63664491 single base substitution A G intron_variant OV-AU 5 63665300 63665300 single base substitution A G intron_variant OV-AU 5 63673599 63673599 single base substitution G C downstream_gene_variant PACA-AU 5 63456914 63456914 single base substitution T G upstream_gene_variant PACA-AU 5 63456915 63456915 single base substitution G A upstream_gene_variant PACA-AU 5 63459346 63459346 single base substitution C A upstream_gene_variant PACA-AU 5 63463369 63463369 single base substitution G T intron_variant PACA-AU 5 63464994 63464994 single base substitution G C intron_variant PACA-AU 5 63465747 63465747 single base substitution C G intron_variant PACA-AU 5 63466983 63466983 single base substitution G A intron_variant PACA-AU 5 63469160 63469160 single base substitution C A intron_variant PACA-AU 5 63469971 63469971 deletion of <=200bp T - intron_variant PACA-AU 5 63478411 63478411 single base substitution G A intron_variant PACA-AU 5 63480220 63480220 single base substitution A G intron_variant PACA-AU 5 63484293 63484293 single base substitution T A intron_variant PACA-AU 5 63485476 63485476 single base substitution G T intron_variant PACA-AU 5 63486638 63486638 single base substitution G A intron_variant PACA-AU 5 63487991 63487991 single base substitution A G intron_variant PACA-AU 5 63494026 63494026 single base substitution T C intron_variant PACA-AU 5 63494735 63494735 single base substitution C T intron_variant PACA-AU 5 63497450 63497450 single base substitution G A intron_variant PACA-AU 5 63504355 63504355 single base substitution T A intron_variant PACA-AU 5 63505156 63505156 single base substitution G T intron_variant PACA-AU 5 63510389 63510389 single base substitution A G downstream_gene_variant PACA-AU 5 63510389 63510389 single base substitution A G intron_variant PACA-AU 5 63518625 63518625 single base substitution G A intron_variant PACA-AU 5 63519995 63519995 single base substitution C A intron_variant PACA-AU 5 63520236 63520236 single base substitution G A intron_variant PACA-AU 5 63522810 63522810 single base substitution G A intron_variant PACA-AU 5 63528824 63528824 insertion of <=200bp - T intron_variant PACA-AU 5 63536904 63536904 single base substitution G A intron_variant PACA-AU 5 63541789 63541789 single base substitution C G intron_variant PACA-AU 5 63542045 63542045 single base substitution G A intron_variant PACA-AU 5 63542470 63542470 single base substitution C T intron_variant PACA-AU 5 63544526 63544526 single base substitution G A intron_variant PACA-AU 5 63544839 63544839 single base substitution C G intron_variant PACA-AU 5 63547749 63547749 single base substitution G T intron_variant PACA-AU 5 63549748 63549748 single base substitution A G intron_variant PACA-AU 5 63552143 63552143 single base substitution C T intron_variant PACA-AU 5 63552655 63552655 single base substitution C G intron_variant PACA-AU 5 63552727 63552727 single base substitution C G intron_variant PACA-AU 5 63554126 63554126 single base substitution G C intron_variant PACA-AU 5 63555067 63555067 single base substitution G A intron_variant PACA-AU 5 63559852 63559852 single base substitution G C intron_variant PACA-AU 5 63561480 63561480 single base substitution G C intron_variant PACA-AU 5 63570285 63570285 single base substitution G A intron_variant PACA-AU 5 63570753 63570753 single base substitution A T intron_variant PACA-AU 5 63578867 63578867 single base substitution G A intron_variant PACA-AU 5 63581199 63581199 single base substitution C T intron_variant PACA-AU 5 63582481 63582481 single base substitution A C intron_variant PACA-AU 5 63587247 63587247 single base substitution T C intron_variant PACA-AU 5 63587533 63587533 single base substitution C T intron_variant PACA-AU 5 63590463 63590463 single base substitution T A intron_variant PACA-AU 5 63595143 63595143 single base substitution G T intron_variant PACA-AU 5 63596073 63596073 single base substitution A T intron_variant PACA-AU 5 63596509 63596509 single base substitution C G intron_variant PACA-AU 5 63600796 63600796 single base substitution G C intron_variant PACA-AU 5 63608693 63608693 single base substitution C A intron_variant PACA-AU 5 63608729 63608729 single base substitution C T intron_variant PACA-AU 5 63609432 63609432 single base substitution G A intron_variant PACA-AU 5 63610223 63610223 single base substitution G A intron_variant PACA-AU 5 63611921 63611921 insertion of <=200bp - T intron_variant PACA-AU 5 63612076 63612076 single base substitution C A intron_variant PACA-AU 5 63614229 63614229 single base substitution A G intron_variant PACA-AU 5 63614929 63614929 single base substitution G A intron_variant PACA-AU 5 63615336 63615336 single base substitution G T intron_variant PACA-AU 5 63616820 63616820 single base substitution G A intron_variant PACA-AU 5 63621619 63621619 single base substitution G A intron_variant PACA-AU 5 63623004 63623004 deletion of <=200bp T - intron_variant PACA-AU 5 63629392 63629392 single base substitution A C intron_variant PACA-AU 5 63633903 63633903 single base substitution G A intron_variant PACA-AU 5 63634323 63634323 single base substitution G A intron_variant PACA-AU 5 63635471 63635471 deletion of <=200bp A - intron_variant PACA-AU 5 63639727 63639727 single base substitution G C intron_variant PACA-AU 5 63647013 63647013 single base substitution T C intron_variant PACA-AU 5 63647837 63647837 single base substitution G A intron_variant PACA-AU 5 63652308 63652308 single base substitution G A intron_variant PACA-AU 5 63653778 63653778 single base substitution T C intron_variant PACA-AU 5 63656561 63656561 single base substitution C T intron_variant PACA-AU 5 63657670 63657670 single base substitution A G intron_variant PACA-AU 5 63659402 63659402 single base substitution T C intron_variant PACA-AU 5 63662516 63662516 deletion of <=200bp A - intron_variant PACA-AU 5 63663775 63663775 single base substitution G A intron_variant PACA-AU 5 63666741 63666741 single base substitution A C 3_prime_UTR_variant PACA-AU 5 63671101 63671101 single base substitution G A downstream_gene_variant PACA-AU 5 63671406 63671406 single base substitution A G downstream_gene_variant PACA-AU 5 63672784 63672784 single base substitution C T downstream_gene_variant PACA-CA 5 63457904 63457904 single base substitution C A upstream_gene_variant PACA-CA 5 63458572 63458572 single base substitution G A upstream_gene_variant PACA-CA 5 63459796 63459796 single base substitution A G upstream_gene_variant PACA-CA 5 63459816 63459816 single base substitution A C upstream_gene_variant PACA-CA 5 63462069 63462069 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 5 63462069 63462069 single base substitution C T intron_variant PACA-CA 5 63462436 63462436 insertion of <=200bp - T intron_variant PACA-CA 5 63462838 63462838 single base substitution A C intron_variant PACA-CA 5 63463369 63463369 single base substitution G C intron_variant PACA-CA 5 63466509 63466509 single base substitution C T intron_variant PACA-CA 5 63467001 63467001 single base substitution A G intron_variant PACA-CA 5 63468945 63468945 single base substitution C A intron_variant PACA-CA 5 63470276 63470276 single base substitution C T intron_variant PACA-CA 5 63470551 63470551 single base substitution G A intron_variant PACA-CA 5 63470944 63470944 single base substitution G A intron_variant PACA-CA 5 63470993 63470993 single base substitution C T intron_variant PACA-CA 5 63471373 63471373 single base substitution T C intron_variant PACA-CA 5 63471611 63471611 single base substitution C T intron_variant PACA-CA 5 63473485 63473485 single base substitution A G intron_variant PACA-CA 5 63474744 63474744 single base substitution A G intron_variant PACA-CA 5 63476139 63476139 single base substitution A G intron_variant PACA-CA 5 63476203 63476203 single base substitution A G intron_variant PACA-CA 5 63480863 63480863 single base substitution C T intron_variant PACA-CA 5 63482536 63482536 single base substitution A T intron_variant PACA-CA 5 63483286 63483286 deletion of <=200bp A - intron_variant PACA-CA 5 63484650 63484650 single base substitution C T intron_variant PACA-CA 5 63485433 63485433 single base substitution G T intron_variant PACA-CA 5 63486398 63486398 single base substitution G A intron_variant PACA-CA 5 63486880 63486880 deletion of <=200bp T - intron_variant PACA-CA 5 63487039 63487039 single base substitution A G intron_variant PACA-CA 5 63489610 63489610 single base substitution G A intron_variant PACA-CA 5 63490005 63490005 single base substitution C T intron_variant PACA-CA 5 63491759 63491759 single base substitution G A intron_variant PACA-CA 5 63491881 63491881 single base substitution A G intron_variant PACA-CA 5 63492048 63492048 single base substitution C T intron_variant PACA-CA 5 63492191 63492191 single base substitution A T intron_variant PACA-CA 5 63492300 63492300 single base substitution G C intron_variant PACA-CA 5 63492310 63492310 deletion of <=200bp T - intron_variant PACA-CA 5 63492894 63492894 single base substitution G A intron_variant PACA-CA 5 63494214 63494214 single base substitution A G intron_variant PACA-CA 5 63494810 63494810 single base substitution A C intron_variant PACA-CA 5 63495807 63495807 single base substitution G A intron_variant PACA-CA 5 63495979 63495979 single base substitution C G intron_variant PACA-CA 5 63497459 63497459 single base substitution G A intron_variant PACA-CA 5 63497504 63497504 single base substitution C T intron_variant PACA-CA 5 63498053 63498053 single base substitution A G intron_variant PACA-CA 5 63498240 63498240 single base substitution C T intron_variant PACA-CA 5 63500311 63500311 single base substitution T C intron_variant PACA-CA 5 63501372 63501372 single base substitution G T intron_variant PACA-CA 5 63501519 63501519 single base substitution A C intron_variant PACA-CA 5 63502314 63502314 single base substitution A G intron_variant PACA-CA 5 63503416 63503416 single base substitution G T intron_variant PACA-CA 5 63503493 63503493 single base substitution C T intron_variant PACA-CA 5 63505145 63505145 single base substitution A T intron_variant PACA-CA 5 63506872 63506872 single base substitution G A intron_variant PACA-CA 5 63506958 63506958 single base substitution G C intron_variant PACA-CA 5 63512949 63512949 single base substitution G C downstream_gene_variant PACA-CA 5 63512949 63512949 single base substitution G C intron_variant PACA-CA 5 63513164 63513164 single base substitution G A downstream_gene_variant PACA-CA 5 63513164 63513164 single base substitution G A intron_variant PACA-CA 5 63513535 63513535 single base substitution G A 3_prime_UTR_variant PACA-CA 5 63513535 63513535 single base substitution G A downstream_gene_variant PACA-CA 5 63513535 63513535 single base substitution G A intron_variant PACA-CA 5 63513687 63513687 single base substitution G C downstream_gene_variant PACA-CA 5 63513687 63513687 single base substitution G C intron_variant PACA-CA 5 63513692 63513692 single base substitution G A downstream_gene_variant PACA-CA 5 63513692 63513692 single base substitution G A intron_variant PACA-CA 5 63513728 63513728 single base substitution G A downstream_gene_variant PACA-CA 5 63513728 63513728 single base substitution G A intron_variant PACA-CA 5 63513860 63513860 single base substitution G C downstream_gene_variant PACA-CA 5 63513860 63513860 single base substitution G C intron_variant PACA-CA 5 63514165 63514165 single base substitution G A downstream_gene_variant PACA-CA 5 63514165 63514165 single base substitution G A intron_variant PACA-CA 5 63514167 63514167 single base substitution G A downstream_gene_variant PACA-CA 5 63514167 63514167 single base substitution G A intron_variant PACA-CA 5 63515789 63515789 single base substitution G T downstream_gene_variant PACA-CA 5 63515789 63515789 single base substitution G T intron_variant PACA-CA 5 63517179 63517179 single base substitution C T downstream_gene_variant PACA-CA 5 63517179 63517179 single base substitution C T intron_variant PACA-CA 5 63518550 63518550 single base substitution T G downstream_gene_variant PACA-CA 5 63518550 63518550 single base substitution T G intron_variant PACA-CA 5 63518726 63518726 single base substitution A G intron_variant PACA-CA 5 63520564 63520564 single base substitution G C intron_variant PACA-CA 5 63521127 63521127 single base substitution G A intron_variant PACA-CA 5 63521196 63521196 single base substitution G A intron_variant PACA-CA 5 63521372 63521372 single base substitution A G intron_variant PACA-CA 5 63522015 63522015 single base substitution C T intron_variant PACA-CA 5 63522590 63522590 single base substitution T C intron_variant PACA-CA 5 63525392 63525392 single base substitution A T intron_variant PACA-CA 5 63526262 63526262 single base substitution C A intron_variant PACA-CA 5 63527973 63527973 single base substitution C T intron_variant PACA-CA 5 63528221 63528221 single base substitution T G intron_variant PACA-CA 5 63528393 63528393 single base substitution C A intron_variant PACA-CA 5 63528750 63528750 single base substitution A C intron_variant PACA-CA 5 63529340 63529340 single base substitution A G intron_variant PACA-CA 5 63529970 63529970 single base substitution A T intron_variant PACA-CA 5 63534741 63534741 single base substitution A G intron_variant PACA-CA 5 63535710 63535710 insertion of <=200bp - TTTCTCA intron_variant PACA-CA 5 63539561 63539561 single base substitution G T intron_variant PACA-CA 5 63540044 63540044 single base substitution G T intron_variant PACA-CA 5 63541351 63541351 single base substitution G C intron_variant PACA-CA 5 63541674 63541674 single base substitution A T intron_variant PACA-CA 5 63543884 63543884 single base substitution G A intron_variant PACA-CA 5 63543956 63543956 single base substitution A C intron_variant PACA-CA 5 63544297 63544297 single base substitution A G intron_variant PACA-CA 5 63545869 63545869 single base substitution T C intron_variant PACA-CA 5 63547860 63547860 deletion of <=200bp A - intron_variant PACA-CA 5 63548754 63548754 single base substitution C T intron_variant PACA-CA 5 63550933 63550933 single base substitution A T intron_variant PACA-CA 5 63553066 63553066 single base substitution G A intron_variant PACA-CA 5 63553626 63553626 single base substitution T C intron_variant PACA-CA 5 63554176 63554176 single base substitution G A intron_variant PACA-CA 5 63555372 63555372 single base substitution G T intron_variant PACA-CA 5 63555704 63555704 single base substitution C T intron_variant PACA-CA 5 63556713 63556715 deletion of <=200bp TTG - intron_variant PACA-CA 5 63558032 63558032 single base substitution A G intron_variant PACA-CA 5 63558256 63558256 single base substitution C A intron_variant PACA-CA 5 63559170 63559170 single base substitution G A intron_variant PACA-CA 5 63559622 63559622 single base substitution G A intron_variant PACA-CA 5 63559781 63559781 deletion of <=200bp T - intron_variant PACA-CA 5 63560762 63560762 single base substitution T C intron_variant PACA-CA 5 63563045 63563045 single base substitution C A intron_variant PACA-CA 5 63564981 63564981 single base substitution G T intron_variant PACA-CA 5 63565135 63565135 single base substitution G T intron_variant PACA-CA 5 63565320 63565320 deletion of <=200bp T - intron_variant PACA-CA 5 63566983 63566983 single base substitution A T intron_variant PACA-CA 5 63567992 63567992 single base substitution A T intron_variant PACA-CA 5 63568070 63568070 single base substitution A C intron_variant PACA-CA 5 63571522 63571522 single base substitution A T intron_variant PACA-CA 5 63572773 63572773 single base substitution A T intron_variant PACA-CA 5 63573239 63573239 single base substitution A C intron_variant PACA-CA 5 63573955 63573955 single base substitution A G intron_variant PACA-CA 5 63575793 63575793 single base substitution G A intron_variant PACA-CA 5 63576508 63576508 single base substitution A T intron_variant PACA-CA 5 63576739 63576739 single base substitution T A intron_variant PACA-CA 5 63578960 63578960 single base substitution G T intron_variant PACA-CA 5 63580502 63580502 single base substitution A T intron_variant PACA-CA 5 63580832 63580832 single base substitution C A intron_variant PACA-CA 5 63582653 63582653 single base substitution G A intron_variant PACA-CA 5 63582890 63582891 deletion of <=200bp CT - intron_variant PACA-CA 5 63583772 63583772 single base substitution C T intron_variant PACA-CA 5 63583856 63583856 deletion of <=200bp T - intron_variant PACA-CA 5 63584460 63584460 single base substitution G A intron_variant PACA-CA 5 63584639 63584639 single base substitution G C intron_variant PACA-CA 5 63585924 63585924 single base substitution A G intron_variant PACA-CA 5 63587790 63587790 insertion of <=200bp - T intron_variant PACA-CA 5 63589703 63589703 single base substitution G T intron_variant PACA-CA 5 63590262 63590262 single base substitution A T intron_variant PACA-CA 5 63590523 63590523 single base substitution C T intron_variant PACA-CA 5 63591726 63591726 single base substitution T C intron_variant PACA-CA 5 63592704 63592704 deletion of <=200bp G - intron_variant PACA-CA 5 63593461 63593461 single base substitution A T intron_variant PACA-CA 5 63595047 63595047 single base substitution A C intron_variant PACA-CA 5 63596017 63596017 single base substitution G T intron_variant PACA-CA 5 63596124 63596124 single base substitution G A intron_variant PACA-CA 5 63596436 63596436 single base substitution C T intron_variant PACA-CA 5 63598662 63598662 single base substitution C G intron_variant PACA-CA 5 63599098 63599106 deletion of <=200bp TTAGACTAA - intron_variant PACA-CA 5 63599462 63599462 single base substitution G T intron_variant PACA-CA 5 63599544 63599544 single base substitution A G intron_variant PACA-CA 5 63600427 63600427 single base substitution G A intron_variant PACA-CA 5 63603720 63603720 single base substitution A C intron_variant PACA-CA 5 63604196 63604196 deletion of <=200bp G - intron_variant PACA-CA 5 63607763 63607763 single base substitution G A intron_variant PACA-CA 5 63608766 63608766 single base substitution C T intron_variant PACA-CA 5 63609654 63609654 single base substitution A G intron_variant PACA-CA 5 63609868 63609868 single base substitution A C intron_variant PACA-CA 5 63611310 63611310 single base substitution G A intron_variant PACA-CA 5 63612904 63612904 single base substitution T C intron_variant PACA-CA 5 63613045 63613045 single base substitution C G intron_variant PACA-CA 5 63619644 63619644 single base substitution G A intron_variant PACA-CA 5 63622838 63622838 single base substitution C T intron_variant PACA-CA 5 63622987 63622987 single base substitution C T intron_variant PACA-CA 5 63623116 63623116 single base substitution C T intron_variant PACA-CA 5 63623145 63623145 single base substitution C T intron_variant PACA-CA 5 63623326 63623326 single base substitution C T intron_variant PACA-CA 5 63624839 63624839 single base substitution A G intron_variant PACA-CA 5 63626249 63626249 single base substitution G A intron_variant PACA-CA 5 63627163 63627163 single base substitution G C intron_variant PACA-CA 5 63628455 63628455 single base substitution G T intron_variant PACA-CA 5 63632960 63632960 single base substitution A T intron_variant PACA-CA 5 63633167 63633167 single base substitution G A intron_variant PACA-CA 5 63637788 63637788 single base substitution G T intron_variant PACA-CA 5 63638395 63638395 single base substitution A C intron_variant PACA-CA 5 63639752 63639752 single base substitution G T intron_variant PACA-CA 5 63640389 63640389 single base substitution C T intron_variant PACA-CA 5 63643606 63643606 single base substitution C T intron_variant PACA-CA 5 63644089 63644089 single base substitution C T intron_variant PACA-CA 5 63645413 63645413 deletion of <=200bp C - intron_variant PACA-CA 5 63645820 63645831 deletion of <=200bp TGTCTTCCACAA - intron_variant PACA-CA 5 63646176 63646176 single base substitution C T intron_variant PACA-CA 5 63650745 63650745 single base substitution T A intron_variant PACA-CA 5 63651918 63651918 single base substitution A T intron_variant PACA-CA 5 63652731 63652750 deletion of <=200bp ATGGTTGTACAACATTGTGA - intron_variant PACA-CA 5 63652844 63652844 single base substitution A T intron_variant PACA-CA 5 63653632 63653632 single base substitution G A intron_variant PACA-CA 5 63654013 63654013 single base substitution C T intron_variant PACA-CA 5 63660693 63660693 single base substitution G A intron_variant PACA-CA 5 63661770 63661770 deletion of <=200bp T - intron_variant PACA-CA 5 63662709 63662709 single base substitution A C intron_variant PACA-CA 5 63663910 63663910 single base substitution T C intron_variant PACA-CA 5 63670178 63670178 single base substitution A C downstream_gene_variant PACA-CA 5 63670455 63670455 single base substitution T G downstream_gene_variant PACA-CA 5 63670900 63670900 single base substitution G A downstream_gene_variant PACA-CA 5 63670910 63670910 single base substitution A G downstream_gene_variant PACA-CA 5 63671009 63671009 single base substitution G C downstream_gene_variant PACA-CA 5 63671561 63671561 single base substitution G T downstream_gene_variant PACA-CA 5 63673575 63673575 single base substitution C T downstream_gene_variant PACA-CA 5 63673621 63673621 single base substitution T C downstream_gene_variant PAEN-AU 5 63476131 63476131 single base substitution T C intron_variant PAEN-AU 5 63542978 63542978 single base substitution A G intron_variant PAEN-AU 5 63549576 63549576 single base substitution T C intron_variant PAEN-AU 5 63560221 63560221 single base substitution C T intron_variant PAEN-AU 5 63626788 63626788 single base substitution G T intron_variant PAEN-AU 5 63645948 63645948 single base substitution G A intron_variant PAEN-IT 5 63485583 63485583 single base substitution G A intron_variant PAEN-IT 5 63551178 63551178 single base substitution G A intron_variant PAEN-IT 5 63592188 63592188 single base substitution T A intron_variant PAEN-IT 5 63611136 63611136 single base substitution G A intron_variant PAEN-IT 5 63623668 63623668 single base substitution G A intron_variant PAEN-IT 5 63658657 63658657 single base substitution C G intron_variant PAEN-IT 5 63662010 63662010 single base substitution A G intron_variant PBCA-DE 5 63461000 63461000 single base substitution C A upstream_gene_variant PBCA-DE 5 63481281 63481281 single base substitution G T intron_variant PBCA-DE 5 63489833 63489833 deletion of <=200bp T - intron_variant PBCA-DE 5 63496479 63496479 single base substitution G C intron_variant PBCA-DE 5 63508104 63508104 single base substitution A T intron_variant PBCA-DE 5 63508172 63508173 deletion of <=200bp CA - intron_variant PBCA-DE 5 63511817 63511817 insertion of <=200bp - T downstream_gene_variant PBCA-DE 5 63511817 63511817 insertion of <=200bp - T intron_variant PBCA-DE 5 63515312 63515312 deletion of <=200bp T - downstream_gene_variant PBCA-DE 5 63515312 63515312 deletion of <=200bp T - intron_variant PBCA-DE 5 63515992 63515992 single base substitution A C downstream_gene_variant PBCA-DE 5 63515992 63515992 single base substitution A C intron_variant PBCA-DE 5 63522697 63522697 single base substitution C T intron_variant PBCA-DE 5 63529349 63529349 single base substitution G A intron_variant PBCA-DE 5 63538849 63538849 single base substitution A G intron_variant PBCA-DE 5 63539219 63539219 single base substitution G T intron_variant PBCA-DE 5 63545384 63545384 single base substitution G A intron_variant PBCA-DE 5 63547714 63547714 single base substitution G C intron_variant PBCA-DE 5 63569740 63569740 insertion of <=200bp - A intron_variant PBCA-DE 5 63582135 63582135 single base substitution A T intron_variant PBCA-DE 5 63586695 63586695 single base substitution A C intron_variant PBCA-DE 5 63597529 63597530 deletion of <=200bp TG - intron_variant PBCA-DE 5 63600880 63600880 single base substitution T G intron_variant PBCA-DE 5 63609304 63609304 single base substitution G T intron_variant PBCA-DE 5 63612977 63612978 deletion of <=200bp GT - intron_variant PBCA-DE 5 63628473 63628473 single base substitution C A intron_variant PBCA-DE 5 63637993 63637993 single base substitution T A intron_variant PBCA-DE 5 63643149 63643149 single base substitution A G intron_variant PBCA-DE 5 63650611 63650611 deletion of <=200bp A - intron_variant PBCA-DE 5 63651193 63651193 single base substitution G A intron_variant PBCA-DE 5 63659492 63659492 single base substitution C A intron_variant PBCA-DE 5 63663231 63663231 insertion of <=200bp - A intron_variant PBCA-DE 5 63665876 63665876 single base substitution G A 3_prime_UTR_variant PBCA-DE 5 63666480 63666480 single base substitution A C 3_prime_UTR_variant PBCA-DE 5 63667898 63667898 single base substitution C T 3_prime_UTR_variant PRAD-CA 5 63470445 63470445 single base substitution G A intron_variant PRAD-CA 5 63474802 63474802 single base substitution G T intron_variant PRAD-CA 5 63478950 63478950 single base substitution C T intron_variant PRAD-CA 5 63494335 63494335 single base substitution A G intron_variant PRAD-CA 5 63513975 63513975 single base substitution C T downstream_gene_variant PRAD-CA 5 63513975 63513975 single base substitution C T intron_variant PRAD-CA 5 63534529 63534529 single base substitution T C intron_variant PRAD-CA 5 63553527 63553527 single base substitution C G intron_variant PRAD-CA 5 63564813 63564813 single base substitution G T intron_variant PRAD-CA 5 63572383 63572383 single base substitution A G intron_variant PRAD-CA 5 63588263 63588263 single base substitution C T intron_variant PRAD-CA 5 63636110 63636110 single base substitution T A intron_variant PRAD-CA 5 63640189 63640189 single base substitution C T intron_variant PRAD-CA 5 63649345 63649345 single base substitution G A intron_variant PRAD-CA 5 63656117 63656117 single base substitution A G intron_variant PRAD-CA 5 63659276 63659276 single base substitution G T intron_variant PRAD-CA 5 63671825 63671825 single base substitution A G downstream_gene_variant PRAD-UK 5 63516032 63516032 single base substitution G T downstream_gene_variant PRAD-UK 5 63516032 63516032 single base substitution G T intron_variant PRAD-UK 5 63516406 63516406 insertion of <=200bp - T downstream_gene_variant PRAD-UK 5 63516406 63516406 insertion of <=200bp - T intron_variant PRAD-UK 5 63518529 63518529 deletion of <=200bp T - downstream_gene_variant PRAD-UK 5 63518529 63518529 deletion of <=200bp T - intron_variant PRAD-UK 5 63518584 63518588 deletion of <=200bp TCAAG - downstream_gene_variant PRAD-UK 5 63518584 63518588 deletion of <=200bp TCAAG - intron_variant PRAD-UK 5 63528088 63528088 single base substitution G T intron_variant PRAD-UK 5 63541773 63541773 single base substitution A G intron_variant PRAD-UK 5 63548075 63548075 single base substitution C A intron_variant PRAD-UK 5 63578088 63578088 single base substitution C T intron_variant PRAD-UK 5 63583069 63583069 single base substitution G A intron_variant PRAD-UK 5 63585690 63585690 single base substitution A G intron_variant PRAD-UK 5 63600585 63600585 single base substitution A C intron_variant PRAD-UK 5 63612644 63612644 single base substitution A G intron_variant PRAD-UK 5 63613066 63613066 insertion of <=200bp - A intron_variant PRAD-UK 5 63632719 63632719 insertion of <=200bp - T intron_variant PRAD-UK 5 63635566 63635566 single base substitution C G intron_variant PRAD-UK 5 63638600 63638600 single base substitution C A intron_variant PRAD-UK 5 63641579 63641579 single base substitution A G intron_variant PRAD-UK 5 63664990 63664990 insertion of <=200bp - T intron_variant PRAD-UK 5 63671302 63671306 deletion of <=200bp TTGAC - downstream_gene_variant READ-US 5 63509921 63509921 single base substitution C A downstream_gene_variant READ-US 5 63509921 63509921 single base substitution C A intron_variant READ-US 5 63509921 63509921 single base substitution C A synonymous_variant S256S 768C>A READ-US 5 63626215 63626215 single base substitution G T missense_variant A521S 1561G>T RECA-EU 5 63457720 63457720 single base substitution G T upstream_gene_variant RECA-EU 5 63471772 63471772 single base substitution T G intron_variant RECA-EU 5 63476577 63476577 single base substitution C T intron_variant RECA-EU 5 63479656 63479656 single base substitution A G intron_variant RECA-EU 5 63484474 63484474 single base substitution A G intron_variant RECA-EU 5 63484975 63484975 single base substitution C A intron_variant RECA-EU 5 63495324 63495324 single base substitution T C intron_variant RECA-EU 5 63503374 63503374 single base substitution C A intron_variant RECA-EU 5 63533903 63533903 single base substitution A T intron_variant RECA-EU 5 63538827 63538827 single base substitution T A intron_variant RECA-EU 5 63546415 63546415 single base substitution T G intron_variant RECA-EU 5 63553651 63553651 single base substitution A G intron_variant RECA-EU 5 63564502 63564502 single base substitution A T intron_variant RECA-EU 5 63572333 63572333 single base substitution A C intron_variant RECA-EU 5 63573021 63573021 single base substitution G A intron_variant RECA-EU 5 63579625 63579625 single base substitution T A intron_variant RECA-EU 5 63580615 63580615 single base substitution A C intron_variant RECA-EU 5 63582260 63582260 single base substitution A T intron_variant RECA-EU 5 63592360 63592360 single base substitution T G intron_variant RECA-EU 5 63601855 63601855 single base substitution T G intron_variant RECA-EU 5 63602372 63602372 single base substitution C T intron_variant RECA-EU 5 63606280 63606280 single base substitution C G intron_variant RECA-EU 5 63616506 63616506 single base substitution A C intron_variant RECA-EU 5 63617127 63617127 single base substitution A G intron_variant RECA-EU 5 63624689 63624689 single base substitution G A intron_variant RECA-EU 5 63625955 63625955 single base substitution G A intron_variant RECA-EU 5 63629273 63629273 single base substitution T A intron_variant RECA-EU 5 63639143 63639143 single base substitution A T intron_variant RECA-EU 5 63647524 63647524 single base substitution G T intron_variant RECA-EU 5 63652167 63652167 single base substitution A G intron_variant RECA-EU 5 63658857 63658857 single base substitution C G intron_variant RECA-EU 5 63659652 63659652 single base substitution G T intron_variant RECA-EU 5 63667394 63667394 single base substitution G T 3_prime_UTR_variant SKCA-BR 5 63456711 63456711 single base substitution G A upstream_gene_variant SKCA-BR 5 63459494 63459494 single base substitution A G upstream_gene_variant SKCA-BR 5 63461570 63461570 single base substitution C G upstream_gene_variant SKCA-BR 5 63462110 63462110 single base substitution A G intron_variant SKCA-BR 5 63462119 63462119 single base substitution T G intron_variant SKCA-BR 5 63467006 63467006 single base substitution G A intron_variant SKCA-BR 5 63467625 63467625 single base substitution C T intron_variant SKCA-BR 5 63467665 63467665 single base substitution C T intron_variant SKCA-BR 5 63473394 63473394 single base substitution G A intron_variant SKCA-BR 5 63473425 63473425 single base substitution A G intron_variant SKCA-BR 5 63475057 63475057 single base substitution C T intron_variant SKCA-BR 5 63476597 63476597 single base substitution C T intron_variant SKCA-BR 5 63477738 63477738 single base substitution A T intron_variant SKCA-BR 5 63479178 63479178 single base substitution C T intron_variant SKCA-BR 5 63479760 63479760 single base substitution C T intron_variant SKCA-BR 5 63482996 63482996 single base substitution G A intron_variant SKCA-BR 5 63484463 63484463 single base substitution G A intron_variant SKCA-BR 5 63484934 63484934 single base substitution A C intron_variant SKCA-BR 5 63486098 63486098 single base substitution C T intron_variant SKCA-BR 5 63486582 63486582 single base substitution G A intron_variant SKCA-BR 5 63487596 63487596 single base substitution C T intron_variant SKCA-BR 5 63489098 63489098 single base substitution G A intron_variant SKCA-BR 5 63490050 63490050 single base substitution C T intron_variant SKCA-BR 5 63491654 63491654 single base substitution A C intron_variant SKCA-BR 5 63491756 63491756 single base substitution G A intron_variant SKCA-BR 5 63493959 63493959 single base substitution C T intron_variant SKCA-BR 5 63494279 63494279 single base substitution G A intron_variant SKCA-BR 5 63495357 63495357 single base substitution T C intron_variant SKCA-BR 5 63495406 63495406 single base substitution A G intron_variant SKCA-BR 5 63495423 63495423 single base substitution C T intron_variant SKCA-BR 5 63496065 63496065 single base substitution G A intron_variant SKCA-BR 5 63497587 63497587 single base substitution G A intron_variant SKCA-BR 5 63499479 63499479 single base substitution C T intron_variant SKCA-BR 5 63499529 63499529 single base substitution C T intron_variant SKCA-BR 5 63505163 63505163 single base substitution C T intron_variant SKCA-BR 5 63514780 63514780 single base substitution C T downstream_gene_variant SKCA-BR 5 63514780 63514780 single base substitution C T intron_variant SKCA-BR 5 63515577 63515577 single base substitution A C downstream_gene_variant SKCA-BR 5 63515577 63515577 single base substitution A C intron_variant SKCA-BR 5 63515788 63515788 single base substitution G A downstream_gene_variant SKCA-BR 5 63515788 63515788 single base substitution G A intron_variant SKCA-BR 5 63515812 63515812 single base substitution G A downstream_gene_variant SKCA-BR 5 63515812 63515812 single base substitution G A intron_variant SKCA-BR 5 63518451 63518451 single base substitution G A downstream_gene_variant SKCA-BR 5 63518451 63518451 single base substitution G A intron_variant SKCA-BR 5 63518778 63518778 single base substitution A T intron_variant SKCA-BR 5 63521344 63521344 single base substitution C T intron_variant SKCA-BR 5 63521532 63521532 single base substitution T C intron_variant SKCA-BR 5 63523052 63523052 single base substitution G A intron_variant SKCA-BR 5 63525201 63525201 single base substitution C T intron_variant SKCA-BR 5 63525271 63525271 single base substitution G A intron_variant SKCA-BR 5 63526927 63526927 single base substitution G A intron_variant SKCA-BR 5 63527470 63527470 single base substitution G A intron_variant SKCA-BR 5 63529275 63529275 single base substitution G A intron_variant SKCA-BR 5 63529374 63529374 single base substitution G C intron_variant SKCA-BR 5 63531287 63531287 single base substitution C T intron_variant SKCA-BR 5 63531914 63531914 single base substitution G A intron_variant SKCA-BR 5 63532060 63532060 single base substitution G A intron_variant SKCA-BR 5 63532519 63532519 single base substitution G A intron_variant SKCA-BR 5 63534201 63534201 single base substitution C T intron_variant SKCA-BR 5 63534732 63534732 single base substitution C T intron_variant SKCA-BR 5 63534832 63534832 single base substitution G A intron_variant SKCA-BR 5 63535561 63535561 single base substitution C T intron_variant SKCA-BR 5 63536606 63536606 single base substitution C T intron_variant SKCA-BR 5 63538825 63538825 single base substitution C T intron_variant SKCA-BR 5 63539268 63539268 single base substitution C T intron_variant SKCA-BR 5 63539953 63539953 single base substitution G A intron_variant SKCA-BR 5 63540015 63540015 single base substitution C T intron_variant SKCA-BR 5 63541496 63541496 single base substitution G T intron_variant SKCA-BR 5 63542247 63542247 single base substitution A G intron_variant SKCA-BR 5 63543213 63543213 single base substitution C T intron_variant SKCA-BR 5 63543536 63543536 single base substitution T C intron_variant SKCA-BR 5 63546312 63546312 single base substitution G A intron_variant SKCA-BR 5 63547190 63547190 single base substitution G A intron_variant SKCA-BR 5 63547272 63547272 single base substitution T A intron_variant SKCA-BR 5 63547464 63547464 single base substitution G A intron_variant SKCA-BR 5 63547756 63547756 single base substitution G A intron_variant SKCA-BR 5 63548950 63548950 single base substitution T A intron_variant SKCA-BR 5 63549597 63549597 single base substitution C T intron_variant SKCA-BR 5 63551596 63551596 single base substitution C T intron_variant SKCA-BR 5 63554805 63554805 single base substitution A C intron_variant SKCA-BR 5 63556200 63556200 single base substitution G T intron_variant SKCA-BR 5 63556860 63556860 single base substitution G A intron_variant SKCA-BR 5 63557084 63557084 single base substitution C T intron_variant SKCA-BR 5 63557188 63557188 single base substitution G A intron_variant SKCA-BR 5 63557987 63557987 single base substitution G A intron_variant SKCA-BR 5 63558099 63558099 single base substitution C A intron_variant SKCA-BR 5 63558953 63558953 single base substitution G A intron_variant SKCA-BR 5 63560023 63560023 single base substitution C T intron_variant SKCA-BR 5 63562038 63562038 single base substitution T C intron_variant SKCA-BR 5 63562138 63562138 single base substitution G A intron_variant SKCA-BR 5 63562419 63562419 single base substitution T A intron_variant SKCA-BR 5 63567079 63567079 single base substitution C T intron_variant SKCA-BR 5 63567173 63567173 single base substitution C T intron_variant SKCA-BR 5 63567180 63567180 single base substitution T A intron_variant SKCA-BR 5 63567763 63567763 single base substitution C T intron_variant SKCA-BR 5 63568106 63568106 single base substitution C T intron_variant SKCA-BR 5 63568112 63568112 single base substitution G A intron_variant SKCA-BR 5 63568936 63568936 single base substitution C T intron_variant SKCA-BR 5 63568937 63568937 single base substitution C T intron_variant SKCA-BR 5 63569532 63569532 single base substitution C T intron_variant SKCA-BR 5 63570160 63570160 single base substitution C T intron_variant SKCA-BR 5 63570602 63570602 single base substitution C T intron_variant SKCA-BR 5 63572064 63572064 single base substitution C T intron_variant SKCA-BR 5 63573021 63573021 insertion of <=200bp - GA intron_variant SKCA-BR 5 63574820 63574820 single base substitution A T intron_variant SKCA-BR 5 63575229 63575229 single base substitution G C intron_variant SKCA-BR 5 63577021 63577021 single base substitution G A intron_variant SKCA-BR 5 63577556 63577556 single base substitution C T intron_variant SKCA-BR 5 63578559 63578559 single base substitution C T intron_variant SKCA-BR 5 63579638 63579638 single base substitution G A intron_variant SKCA-BR 5 63579847 63579847 single base substitution C T intron_variant SKCA-BR 5 63580120 63580120 single base substitution C T intron_variant SKCA-BR 5 63582860 63582860 single base substitution C A intron_variant SKCA-BR 5 63583519 63583519 single base substitution C T intron_variant SKCA-BR 5 63583884 63583884 single base substitution C T intron_variant SKCA-BR 5 63586525 63586525 single base substitution C T intron_variant SKCA-BR 5 63586962 63586962 single base substitution C T intron_variant SKCA-BR 5 63587829 63587829 single base substitution A T intron_variant SKCA-BR 5 63587830 63587830 single base substitution G A intron_variant SKCA-BR 5 63587983 63587983 single base substitution C A intron_variant SKCA-BR 5 63588227 63588227 single base substitution G A intron_variant SKCA-BR 5 63589891 63589891 single base substitution G A intron_variant SKCA-BR 5 63592461 63592461 single base substitution G A intron_variant SKCA-BR 5 63592594 63592594 single base substitution G A intron_variant SKCA-BR 5 63597072 63597072 single base substitution C T intron_variant SKCA-BR 5 63597590 63597590 single base substitution G A intron_variant SKCA-BR 5 63598679 63598679 single base substitution G A intron_variant SKCA-BR 5 63599391 63599391 single base substitution A C intron_variant SKCA-BR 5 63599575 63599575 single base substitution T C intron_variant SKCA-BR 5 63599987 63599989 deletion of <=200bp CAG - intron_variant SKCA-BR 5 63601783 63601783 single base substitution C T intron_variant SKCA-BR 5 63601868 63601868 single base substitution G A intron_variant SKCA-BR 5 63602624 63602624 single base substitution G A intron_variant SKCA-BR 5 63604385 63604385 single base substitution G A intron_variant SKCA-BR 5 63604969 63604969 single base substitution G A intron_variant SKCA-BR 5 63605864 63605864 single base substitution G A intron_variant SKCA-BR 5 63607271 63607271 single base substitution G A intron_variant SKCA-BR 5 63608362 63608362 single base substitution C T intron_variant SKCA-BR 5 63608577 63608577 single base substitution C T intron_variant SKCA-BR 5 63611155 63611155 single base substitution C T intron_variant SKCA-BR 5 63611614 63611614 single base substitution G A intron_variant SKCA-BR 5 63613390 63613390 insertion of <=200bp - CATACATATAT intron_variant SKCA-BR 5 63613586 63613586 single base substitution C T intron_variant SKCA-BR 5 63613684 63613684 single base substitution T C intron_variant SKCA-BR 5 63616547 63616547 single base substitution C T intron_variant SKCA-BR 5 63616790 63616790 single base substitution G A intron_variant SKCA-BR 5 63617882 63617882 single base substitution C T intron_variant SKCA-BR 5 63618668 63618668 single base substitution G A intron_variant SKCA-BR 5 63620987 63620987 single base substitution G A intron_variant SKCA-BR 5 63621575 63621575 single base substitution C T intron_variant SKCA-BR 5 63622494 63622494 single base substitution C T intron_variant SKCA-BR 5 63623814 63623814 single base substitution C T intron_variant SKCA-BR 5 63623832 63623832 single base substitution C T intron_variant SKCA-BR 5 63627574 63627574 single base substitution A C intron_variant SKCA-BR 5 63628630 63628630 single base substitution C T intron_variant SKCA-BR 5 63629095 63629095 single base substitution C T intron_variant SKCA-BR 5 63631577 63631577 single base substitution C T intron_variant SKCA-BR 5 63632321 63632321 single base substitution G T intron_variant SKCA-BR 5 63632825 63632825 single base substitution G T intron_variant SKCA-BR 5 63632863 63632863 single base substitution T C intron_variant SKCA-BR 5 63633442 63633442 single base substitution C T intron_variant SKCA-BR 5 63633491 63633491 single base substitution A C intron_variant SKCA-BR 5 63634836 63634836 single base substitution T C intron_variant SKCA-BR 5 63634955 63634955 single base substitution C T intron_variant SKCA-BR 5 63635192 63635192 single base substitution C T intron_variant SKCA-BR 5 63635755 63635755 single base substitution G A intron_variant SKCA-BR 5 63636043 63636043 single base substitution T C intron_variant SKCA-BR 5 63637183 63637183 single base substitution C T intron_variant SKCA-BR 5 63639230 63639230 single base substitution G A intron_variant SKCA-BR 5 63639593 63639593 single base substitution C T intron_variant SKCA-BR 5 63639622 63639622 single base substitution G A intron_variant SKCA-BR 5 63639844 63639844 single base substitution G A intron_variant SKCA-BR 5 63643590 63643590 single base substitution G A intron_variant SKCA-BR 5 63645925 63645925 single base substitution G A intron_variant SKCA-BR 5 63646844 63646844 single base substitution G A intron_variant SKCA-BR 5 63648662 63648662 single base substitution A G intron_variant SKCA-BR 5 63650842 63650842 single base substitution T A intron_variant SKCA-BR 5 63651211 63651211 single base substitution G A intron_variant SKCA-BR 5 63652267 63652267 single base substitution G A intron_variant SKCA-BR 5 63653038 63653038 single base substitution G A intron_variant SKCA-BR 5 63654832 63654832 single base substitution G A intron_variant SKCA-BR 5 63657890 63657890 single base substitution C T intron_variant SKCA-BR 5 63658181 63658181 single base substitution C T intron_variant SKCA-BR 5 63658452 63658452 single base substitution G A intron_variant SKCA-BR 5 63659047 63659047 single base substitution G A intron_variant SKCA-BR 5 63662501 63662501 single base substitution C T intron_variant SKCA-BR 5 63663975 63663975 single base substitution C T intron_variant SKCA-BR 5 63664220 63664220 single base substitution C T intron_variant SKCA-BR 5 63664221 63664221 single base substitution C T intron_variant SKCA-BR 5 63665109 63665109 single base substitution G A intron_variant SKCA-BR 5 63665128 63665128 single base substitution G A intron_variant SKCA-BR 5 63666339 63666339 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 63666494 63666494 single base substitution C T 3_prime_UTR_variant SKCA-BR 5 63667016 63667016 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 63669853 63669853 single base substitution G A downstream_gene_variant SKCA-BR 5 63670228 63670228 single base substitution C T downstream_gene_variant SKCA-BR 5 63670503 63670503 single base substitution C T downstream_gene_variant SKCA-BR 5 63671287 63671287 single base substitution C T downstream_gene_variant SKCA-BR 5 63672672 63672672 single base substitution G A downstream_gene_variant SKCA-BR 5 63672673 63672673 single base substitution G A downstream_gene_variant SKCA-BR 5 63672768 63672768 single base substitution T G downstream_gene_variant SKCA-BR 5 63673353 63673353 single base substitution C T downstream_gene_variant SKCA-BR 5 63673626 63673626 single base substitution C T downstream_gene_variant SKCM-US 5 63496695 63496695 single base substitution C T missense_variant R21C 61C>T SKCM-US 5 63509400 63509400 single base substitution G A intron_variant SKCM-US 5 63509400 63509400 single base substitution G A missense_variant G83R 247G>A SKCM-US 5 63509401 63509401 single base substitution G A intron_variant SKCM-US 5 63509401 63509401 single base substitution G A missense_variant G83E 248G>A SKCM-US 5 63509416 63509416 single base substitution C T intron_variant SKCM-US 5 63509416 63509416 single base substitution C T missense_variant P88L 263C>T SKCM-US 5 63509470 63509470 single base substitution C T intron_variant SKCM-US 5 63509470 63509470 single base substitution C T missense_variant S106F 317C>T SKCM-US 5 63509920 63509920 single base substitution C T downstream_gene_variant SKCM-US 5 63509920 63509920 single base substitution C T intron_variant SKCM-US 5 63509920 63509920 single base substitution C T missense_variant S256F 767C>T SKCM-US 5 63509989 63509989 single base substitution C T downstream_gene_variant SKCM-US 5 63509989 63509989 single base substitution C T intron_variant SKCM-US 5 63509989 63509989 single base substitution C T missense_variant S279F 836C>T STAD-US 5 63509571 63509571 single base substitution C T downstream_gene_variant STAD-US 5 63509571 63509571 single base substitution C T intron_variant STAD-US 5 63509571 63509571 single base substitution C T missense_variant H140Y 418C>T STAD-US 5 63509644 63509644 single base substitution G T downstream_gene_variant STAD-US 5 63509644 63509644 single base substitution G T intron_variant STAD-US 5 63509644 63509644 single base substitution G T missense_variant R164M 491G>T STAD-US 5 63509662 63509662 single base substitution G A downstream_gene_variant STAD-US 5 63509662 63509662 single base substitution G A intron_variant STAD-US 5 63509662 63509662 single base substitution G A missense_variant R170Q 509G>A STAD-US 5 63509748 63509748 single base substitution C T downstream_gene_variant STAD-US 5 63509748 63509748 single base substitution C T intron_variant STAD-US 5 63509748 63509748 single base substitution C T synonymous_variant L199L 595C>T STAD-US 5 63509837 63509837 single base substitution A G downstream_gene_variant STAD-US 5 63509837 63509837 single base substitution A G intron_variant STAD-US 5 63509837 63509837 single base substitution A G synonymous_variant S228S 684A>G STAD-US 5 63510031 63510031 single base substitution A G downstream_gene_variant STAD-US 5 63510031 63510031 single base substitution A G intron_variant STAD-US 5 63510031 63510031 single base substitution A G missense_variant Q293R 878A>G STAD-US 5 63510254 63510254 single base substitution C T downstream_gene_variant STAD-US 5 63510254 63510254 single base substitution C T intron_variant STAD-US 5 63510254 63510254 single base substitution C T synonymous_variant S367S 1101C>T THCA-SA 5 63668367 63668367 single base substitution T C 3_prime_UTR_variant UCEC-US 5 63496644 63496644 single base substitution A C missense_variant S4R 10A>C UCEC-US 5 63496650 63496650 single base substitution G T stop_gained E6* 16G>T UCEC-US 5 63507898 63507898 single base substitution G A missense_variant D48N 142G>A UCEC-US 5 63507919 63507919 single base substitution A C missense_variant N55H 163A>C UCEC-US 5 63509662 63509662 single base substitution G A downstream_gene_variant UCEC-US 5 63509662 63509662 single base substitution G A intron_variant UCEC-US 5 63509662 63509662 single base substitution G A missense_variant R170Q 509G>A UCEC-US 5 63509984 63509984 single base substitution C T downstream_gene_variant UCEC-US 5 63509984 63509984 single base substitution C T intron_variant UCEC-US 5 63509984 63509984 single base substitution C T synonymous_variant S277S 831C>T UCEC-US 5 63626135 63626135 single base substitution T C missense_variant F494S 1481T>C UCEC-US 5 63626180 63626180 insertion of <=200bp - CT frameshift_variant N509T? UCEC-US 5 63665629 63665629 single base substitution C A missense_variant F589L 1767C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-FS-A4FC-06 COSM3617370 c.767C>T p.S256F Substitution - Missense 5:64214093-64214093 + TCGA-ER-A19F-06 COSM3617366 c.263C>T p.P88L Substitution - Missense 5:64213589-64213589 + C086 COSM4775723 c.560G>A p.R187Q Substitution - Missense 5:64213886-64213886 + SH-0622 COSM5017799 c.893delC p.H300fs*15 Deletion - Frameshift 5:64214219-64214219 + LUAD-S01346 COSM397828 c.832T>G p.Y278D Substitution - Missense 5:64214158-64214158 + 5202_CLM COSM5756682 c.1260C>A p.D420E Substitution - Missense 5:64325218-64325218 + HCC827S-R1 COSM1685122 c.657C>T p.C219C Substitution - coding silent 5:64213983-64213983 + TCGA-AP-A0LM-01 COSM1069297 c.16G>T p.E6* Substitution - Nonsense 5:64200823-64200823 + CHC2141T COSM4790155 c.1205G>C p.G402A Substitution - Missense 5:64217374-64217374 + YURAY COSM5403694 c.635C>T p.P212L Substitution - Missense 5:64213961-64213961 + ACINAR11 COSM1735115 c.62G>A p.R21H Substitution - Missense 5:64200869-64200869 + TCGA-BH-A0DT-01 COSM449957 c.1037C>T p.S346L Substitution - Missense 5:64214363-64214363 + 1_RESISTANT COSM1264367 c.61C>T p.R21C Substitution - Missense 5:64200868-64200868 + TCGA-CD-A4MG-01 COSM3855846 c.595C>T p.L199L Substitution - coding silent 5:64213921-64213921 + Au1 COSM5597507 c.1035C>T p.A345A Substitution - coding silent 5:64214361-64214361 + STC246 COSM5061145 c.1266A>C p.E422D Substitution - Missense 5:64325224-64325224 + PT37 COSM5918801 c.1651C>T p.H551Y Substitution - Missense 5:64369686-64369686 + OSCC-GB_01120111 COSM4884722 c.286G>T p.G96C Substitution - Missense 5:64213612-64213612 + GC9_T COSM149844 c.788C>A p.P263H Substitution - Missense 5:64214114-64214114 + CHC2141T COSM4790155 c.1205G>C p.G402A Substitution - Missense 5:64217374-64217374 + SJHYPO044 COSM4775724 c.560G>A p.R187Q Substitution - Missense 5:64213886-64213886 + CSCC-27-T COSM3345833 c.859G>A p.D287N Substitution - Missense 5:64214185-64214185 + TCGA-FV-A2QQ-01 COSM4910831 c.658G>T p.A220S Substitution - Missense 5:64213984-64213984 + OSCC-GB_01120111 COSM4884721 c.286G>T p.G96C Substitution - Missense 5:64213612-64213612 + TCGA-AP-A051-01 COSM1069301 c.831C>T p.S277S Substitution - coding silent 5:64214157-64214157 + HT115 COSM3345842 c.925G>A p.E309K Substitution - Missense 5:64214251-64214251 + TCGA-AA-A00N-01 COSM277087 c.569A>G p.Y190C Substitution - Missense 5:64213895-64213895 + ESCC_BICR_066T COSM5444681 c.800C>T p.S267L Substitution - Missense 5:64214126-64214126 + TCGA-ER-A19F-06 COSM3617365 c.263C>T p.P88L Substitution - Missense 5:64213589-64213589 + TCGA-FI-A2F8-01 COSM1595435 c.1526_1527insCT p.A511fs*57 Insertion - Frameshift 5:64330353-64330354 + TCGA-F5-6814-01 COSM3429553 c.768C>A p.S256S Substitution - coding silent 5:64214094-64214094 + ESO-085 COSM1264365 c.1068C>T p.D356D Substitution - coding silent 5:64214394-64214394 + TCGA-B7-5816-01 COSM3855852 c.1101C>T p.S367S Substitution - coding silent 5:64214427-64214427 + 2492725 COSM139578 c.199C>T p.L67F Substitution - Missense 5:64212128-64212128 + Gp2D COSM3345851 c.1167G>A p.R389R Substitution - coding silent 5:64214493-64214493 + 2492722 COSM5720336 c.1387G>A p.D463N Substitution - Missense 5:64325345-64325345 + pfg108T COSM4756468 c.1318T>G p.F440V Substitution - Missense 5:64325276-64325276 + 1517_PT COSM5756681 c.1026G>A p.M342I Substitution - Missense 5:64214352-64214352 + TCGA-F5-6814-01 COSM3429552 c.768C>A p.S256S Substitution - coding silent 5:64214094-64214094 + PA167 COSM1162560 c.167T>C p.I56T Substitution - Missense 5:64212096-64212096 + 3402_T COSM3947649 c.21G>C p.L7F Substitution - Missense 5:64200828-64200828 + 102 COSM5014492 c.361G>A p.D121N Substitution - Missense 5:64213687-64213687 + TCGA-FW-A3R5-06 COSM3920246 c.248G>A p.G83E Substitution - Missense 5:64213574-64213574 + ICGC_0066 COSM1159591 c.1172A>C p.E391A Substitution - Missense 5:64214498-64214498 + TCGA-CM-5861-01 COSM1438130 c.361G>T p.D121Y Substitution - Missense 5:64213687-64213687 + YUMOBER COSM1438139 c.1095G>A p.L365L Substitution - coding silent 5:64214421-64214421 + CHEWS021 COSM4585938 c.550C>T p.L184L Substitution - coding silent 5:64213876-64213876 + 3 COSM5731984 c.1024A>T p.M342L Substitution - Missense 5:64214350-64214350 + T3094 COSM4722059 c.1075C>T p.H359Y Substitution - Missense 5:64214401-64214401 + TCGA-AX-A0J0-01 COSM1595436 c.1481T>C p.F494S Substitution - Missense 5:64330308-64330308 + ESCC-153T COSM3941353 c.1458G>A p.L486L Substitution - coding silent 5:64330285-64330285 + HN_00190 COSM127184 c.232-1G>A p.? Unknown 5:64213557-64213557 + TCGA-BR-8361-01 COSM3855845 c.491G>T p.R164M Substitution - Missense 5:64213817-64213817 + Gp5D COSM3345866 c.1421G>T p.R474L Substitution - Missense 5:64325379-64325379 + 1517_PT COSM5756680 c.1026G>A p.M342I Substitution - Missense 5:64214352-64214352 + TCGA-FD-A3SJ-01 COSM3776777 c.673C>A p.H225N Substitution - Missense 5:64213999-64213999 + CHEWS021 COSM4585937 c.550C>T p.L184L Substitution - coding silent 5:64213876-64213876 + CHC2141T COSM4790156 c.1205G>C p.G402A Substitution - Missense 5:64217374-64217374 + CSCC-27-T COSM3345832 c.859G>A p.D287N Substitution - Missense 5:64214185-64214185 + sysucc-311T COSM5466508 c.1056C>T p.L352L Substitution - coding silent 5:64214382-64214382 + NB05C COSM1236343 c.303C>A p.S101R Substitution - Missense 5:64213629-64213629 + PDA_039 COSM5000067 c.1670G>A p.R557H Substitution - Missense 5:64369705-64369705 + 1_RESISTANT COSM1264368 c.61C>T p.R21C Substitution - Missense 5:64200868-64200868 + CSCC-10-T COSM4471702 c.1737C>T p.F579F Substitution - coding silent 5:64369772-64369772 + SJHYPO044 COSM4775723 c.560G>A p.R187Q Substitution - Missense 5:64213886-64213886 + Gp2D COSM3345850 c.1167G>A p.R389R Substitution - coding silent 5:64214493-64214493 + YUDIVI COSM5403695 c.994C>T p.L332L Substitution - coding silent 5:64214320-64214320 + pfg181T COSM4756454 c.120G>C p.E40D Substitution - Missense 5:64200927-64200927 + 102 COSM5014491 c.361G>A p.D121N Substitution - Missense 5:64213687-64213687 + TCGA-FS-A4FC-06 COSM3617369 c.767C>T p.S256F Substitution - Missense 5:64214093-64214093 + Gp2D COSM3345866 c.1421G>T p.R474L Substitution - Missense 5:64325379-64325379 + TCGA-B5-A0JY-01 COSM1069299 c.163A>C p.N55H Substitution - Missense 5:64212092-64212092 + CSCC-62-T COSM4572368 c.722T>C p.L241S Substitution - Missense 5:64214048-64214048 + TCGA-60-2715-01 COSM738400 c.994C>A p.L332M Substitution - Missense 5:64214320-64214320 + ESCC_129 COSM5641950 c.574G>T p.E192* Substitution - Nonsense 5:64213900-64213900 + TCGA-CK-5916-01 COSM1438144 c.1669C>T p.R557C Substitution - Missense 5:64369704-64369704 + NB05C COSM1236342 c.303C>A p.S101R Substitution - Missense 5:64213629-64213629 + HCC2998 COSM3345831 c.805T>G p.L269V Substitution - Missense 5:64214131-64214131 + pfg173T COSM4756452 c.71A>G p.K24R Substitution - Missense 5:64200878-64200878 + 2492725 COSM5724754 c.199C>T p.L67F Substitution - Missense 5:64212128-64212128 + CRC-02T COSM5455416 c.136-1G>T p.? Unknown 5:64212064-64212064 + OSCC-GB_00460111 COSM3715250 c.683C>A p.S228* Substitution - Nonsense 5:64214009-64214009 + YURAY COSM5403693 c.635C>T p.P212L Substitution - Missense 5:64213961-64213961 + 2492721 COSM5720336 c.1387G>A p.D463N Substitution - Missense 5:64325345-64325345 + Ad1 COSM4440817 c.173A>T p.H58L Substitution - Missense 5:64212102-64212102 + MO_1263 COSM5565447 c.881G>T p.R294I Substitution - Missense 5:64214207-64214207 + TCGA-AA-3510-01 COSM1438131 c.610G>T p.E204* Substitution - Nonsense 5:64213936-64213936 + PT49 COSM5935047 c.287G>A p.G96D Substitution - Missense 5:64213613-64213613 + TCGA-AA-3510-01 COSM1438141 c.1561G>T p.A521S Substitution - Missense 5:64330388-64330388 + ESCC_28 COSM5627367 c.1469_1470insA p.T492fs*5 Insertion - Frameshift 5:64330296-64330297 + cSCCP7 COSM139578 c.199C>T p.L67F Substitution - Missense 5:64212128-64212128 + C086 COSM4775724 c.560G>A p.R187Q Substitution - Missense 5:64213886-64213886 + 2492726 COSM139578 c.199C>T p.L67F Substitution - Missense 5:64212128-64212128 + TCGA-04-1655-01 COSM1328731 c.1175G>C p.R392T Substitution - Missense 5:64214501-64214501 + TCGA-D3-A3C7-06 COSM1264368 c.61C>T p.R21C Substitution - Missense 5:64200868-64200868 + 1_PRE-TREATMENT COSM1264368 c.61C>T p.R21C Substitution - Missense 5:64200868-64200868 + CSCC-16-T COSM4454714 c.564A>G p.P188P Substitution - coding silent 5:64213890-64213890 + TCGA-60-2715-01 COSM1150117 c.994C>A p.L332M Substitution - Missense 5:64214320-64214320 + TCGA-AP-A059-01 COSM1595438 c.509G>A p.R170Q Substitution - Missense 5:64213835-64213835 + 041T COSM1729431 c.1228-2A>T p.? Unknown 5:64325184-64325184 + PT49 COSM5935048 c.287G>A p.G96D Substitution - Missense 5:64213613-64213613 + 2492720 COSM5720336 c.1387G>A p.D463N Substitution - Missense 5:64325345-64325345 + 2492724 COSM139578 c.199C>T p.L67F Substitution - Missense 5:64212128-64212128 + Patient4 COSM5731746 c.709G>T p.E237* Substitution - Nonsense 5:64214035-64214035 + 5202_PT COSM5756682 c.1260C>A p.D420E Substitution - Missense 5:64325218-64325218 + pfg029T COSM1264368 c.61C>T p.R21C Substitution - Missense 5:64200868-64200868 + 3 COSM5731985 c.1024A>T p.M342L Substitution - Missense 5:64214350-64214350 + TCGA-CG-5721-01 COSM3855848 c.684A>G p.S228S Substitution - coding silent 5:64214010-64214010 + TCGA-CM-5861-01 COSM1438129 c.361G>T p.D121Y Substitution - Missense 5:64213687-64213687 + ACINAR11 COSM213062 c.62G>A p.R21H Substitution - Missense 5:64200869-64200869 + LUAD-NYU1210 COSM369681 c.594G>T p.L198L Substitution - coding silent 5:64213920-64213920 + 1_PRE-TREATMENT COSM1264367 c.61C>T p.R21C Substitution - Missense 5:64200868-64200868 + pfg053T COSM4756467 c.1289A>G p.Y430C Substitution - Missense 5:64325247-64325247 + TCGA-D5-6930-01 COSM1438135 c.661A>G p.T221A Substitution - Missense 5:64213987-64213987 + CSCC-29-T COSM4483162 c.267C>T p.F89F Substitution - coding silent 5:64213593-64213593 + ESO-610 COSM1264367 c.61C>T p.R21C Substitution - Missense 5:64200868-64200868 + CCK81 COSM3345862 c.1266A>G p.E422E Substitution - coding silent 5:64325224-64325224 + CSCC-35-T COSM4451982 c.1520A>T p.K507I Substitution - Missense 5:64330347-64330347 + Ad1 COSM4440816 c.158C>T p.A53V Substitution - Missense 5:64212087-64212087 + 8031680 COSM1159591 c.1172A>C p.E391A Substitution - Missense 5:64214498-64214498 + C086 COSM5403693 c.635C>T p.P212L Substitution - Missense 5:64213961-64213961 + BD143T COSM3617371 c.836C>T p.S279F Substitution - Missense 5:64214162-64214162 + AOCS-135-8-X COSM4142017 c.131T>C p.I44T Substitution - Missense 5:64200938-64200938 + 3402_T COSM3947650 c.21G>C p.L7F Substitution - Missense 5:64200828-64200828 + YULAN COSM1695817 c.3G>A p.M1I Substitution - Missense 5:64200810-64200810 + BD124T COSM5491897 c.1579G>A p.G527S Substitution - Missense 5:64330406-64330406 + Patient4 COSM5731747 c.709G>T p.E237* Substitution - Nonsense 5:64214035-64214035 + HT115 COSM3345843 c.925G>A p.E309K Substitution - Missense 5:64214251-64214251 + 2492726 COSM5724754 c.199C>T p.L67F Substitution - Missense 5:64212128-64212128 + TCGA-A6-5657-01 COSM1438139 c.1095G>A p.L365L Substitution - coding silent 5:64214421-64214421 + SH-0622 COSM5017800 c.893delC p.H300fs*15 Deletion - Frameshift 5:64214219-64214219 + HCC2998 COSM3345830 c.805T>G p.L269V Substitution - Missense 5:64214131-64214131 + TCGA-D3-A3C7-06 COSM1264367 c.61C>T p.R21C Substitution - Missense 5:64200868-64200868 + TCGA-FS-A4F5-06 COSM1264368 c.61C>T p.R21C Substitution - Missense 5:64200868-64200868 + TCGA-FD-A3SO-01 COSM3776779 c.1155G>A p.R385R Substitution - coding silent 5:64214481-64214481 + cSCCP6 COSM136483 c.1030G>A p.E344K Substitution - Missense 5:64214356-64214356 + ESCC_63 COSM5633370 c.1170T>G p.R390R Substitution - coding silent 5:64214496-64214496 + ESCC_BICR_066T COSM5444680 c.800C>T p.S267L Substitution - Missense 5:64214126-64214126 + CSCC-62-T COSM4572369 c.722T>C p.L241S Substitution - Missense 5:64214048-64214048 + BD223T COSM5496503 c.828T>C p.N276N Substitution - coding silent 5:64214154-64214154 + T2269 COSM4722057 c.752A>C p.K251T Substitution - Missense 5:64214078-64214078 + T3094 COSM4722060 c.1075C>T p.H359Y Substitution - Missense 5:64214401-64214401 + tumor_4107137 COSM3357901 c.1498A>C p.K500Q Substitution - Missense 5:64330325-64330325 + TCGA-AP-A0LM-01 COSM1595434 c.1767C>A p.F589L Substitution - Missense 5:64369802-64369802 + SC_9047 COSM5567839 c.750T>C p.S250S Substitution - coding silent 5:64214076-64214076 + TCGA-BR-4256-01 COSM3855842 c.418C>T p.H140Y Substitution - Missense 5:64213744-64213744 + TCGA-B5-A0JY-01 COSM1595439 c.163A>C p.N55H Substitution - Missense 5:64212092-64212092 + HCC2998 COSM1438142 c.1567C>A p.H523N Substitution - Missense 5:64330394-64330394 + TCGA-FD-A3SO-01 COSM3776780 c.1155G>A p.R385R Substitution - coding silent 5:64214481-64214481 + TCGA-FD-A3SJ-01 COSM3776778 c.673C>A p.H225N Substitution - Missense 5:64213999-64213999 + BD223T COSM5496502 c.828T>C p.N276N Substitution - coding silent 5:64214154-64214154 + pfg029T COSM1264367 c.61C>T p.R21C Substitution - Missense 5:64200868-64200868 + TCGA-A6-5657-01 COSM1438140 c.1095G>A p.L365L Substitution - coding silent 5:64214421-64214421 + Gp5D COSM3345851 c.1167G>A p.R389R Substitution - coding silent 5:64214493-64214493 + TCGA-F5-6814-01 COSM1438141 c.1561G>T p.A521S Substitution - Missense 5:64330388-64330388 + TCGA-AP-A051-01 COSM1069298 c.142G>A p.D48N Substitution - Missense 5:64212071-64212071 + ESCC_92 COSM5637130 c.1171G>A p.E391K Substitution - Missense 5:64214497-64214497 + Au1 COSM5597506 c.1035C>T p.A345A Substitution - coding silent 5:64214361-64214361 + TCGA-EE-A3J5-06 COSM3617363 c.247G>A p.G83R Substitution - Missense 5:64213573-64213573 + TCGA-AA-3510-01 COSM1438132 c.610G>T p.E204* Substitution - Nonsense 5:64213936-64213936 + CCC2T COSM3661873 c.1580-9A>G p.? Unknown 5:64369606-64369606 + T2269 COSM4722058 c.752A>C p.K251T Substitution - Missense 5:64214078-64214078 + TCGA-BH-A0DT-01 COSM1486894 c.1037C>T p.S346L Substitution - Missense 5:64214363-64214363 + YUDIVI COSM5403696 c.994C>T p.L332L Substitution - coding silent 5:64214320-64214320 + TCGA-B5-A11E-01 COSM1069296 c.10A>C p.S4R Substitution - Missense 5:64200817-64200817 + ESCC_129 COSM5641951 c.574G>T p.E192* Substitution - Nonsense 5:64213900-64213900 + TCGA-A5-A0R6-01 COSM1154477 c.1734A>T p.G578G Substitution - coding silent 5:64369769-64369769 + CSCC-16-T COSM4454715 c.564A>G p.P188P Substitution - coding silent 5:64213890-64213890 + pfg173T COSM4756451 c.71A>G p.K24R Substitution - Missense 5:64200878-64200878 + ESO-085 COSM1264366 c.1068C>T p.D356D Substitution - coding silent 5:64214394-64214394 + cSCCP7 COSM139579 c.1130G>A p.R377K Substitution - Missense 5:64214456-64214456 + sysucc-311T COSM5466509 c.1056C>T p.L352L Substitution - coding silent 5:64214382-64214382 + BD143T COSM3617372 c.836C>T p.S279F Substitution - Missense 5:64214162-64214162 + TCGA-B2-4101-01 COSM3366121 c.409T>C p.Y137H Substitution - Missense 5:64213735-64213735 + TCGA-CA-6718-01 COSM3697361 c.770G>A p.R257K Substitution - Missense 5:64214096-64214096 + TCGA-AP-A0LM-01 COSM1595441 c.16G>T p.E6* Substitution - Nonsense 5:64200823-64200823 + PD8979a COSM5792418 c.1186A>G p.K396E Substitution - Missense 5:64214512-64214512 + TCGA-CD-A4MG-01 COSM3855847 c.595C>T p.L199L Substitution - coding silent 5:64213921-64213921 + BD57T COSM5510069 c.893_894insC p.H300fs*2 Insertion - Frameshift 5:64214219-64214220 + MO_1263 COSM5565446 c.881G>T p.R294I Substitution - Missense 5:64214207-64214207 + QC2-42-T2 COSM1567627 c.1421G>A p.R474Q Substitution - Missense 5:64325379-64325379 + SC_9047 COSM5567840 c.750T>C p.S250S Substitution - coding silent 5:64214076-64214076 + TCGA-AP-A059-01 COSM1069300 c.509G>A p.R170Q Substitution - Missense 5:64213835-64213835 + Ad1 COSM4440815 c.158C>T p.A53V Substitution - Missense 5:64212087-64212087 + TCGA-CA-6717-01 COSM1438126 c.32A>C p.N11T Substitution - Missense 5:64200839-64200839 + Ad1 COSM4440818 c.173A>T p.H58L Substitution - Missense 5:64212102-64212102 + ESCC_63 COSM5633369 c.1170T>G p.R390R Substitution - coding silent 5:64214496-64214496 + TCGA-BH-A18J-01 COSM449958 c.1378C>A p.L460M Substitution - Missense 5:64325336-64325336 + TCGA-EE-A3J5-06 COSM3617364 c.247G>A p.G83R Substitution - Missense 5:64213573-64213573 + pfg181T COSM4756453 c.120G>C p.E40D Substitution - Missense 5:64200927-64200927 + TCGA-B5-A11E-01 COSM1595442 c.10A>C p.S4R Substitution - Missense 5:64200817-64200817 + TCGA-BR-8059-01 COSM3855850 c.878A>G p.Q293R Substitution - Missense 5:64214204-64214204 + YULAN COSM1695818 c.3G>A p.M1I Substitution - Missense 5:64200810-64200810 + 46T COSM3715251 c.683C>A p.S228* Substitution - Nonsense 5:64214009-64214009 + TCGA-BR-8059-01 COSM3855851 c.878A>G p.Q293R Substitution - Missense 5:64214204-64214204 + SA053 COSM213062 c.62G>A p.R21H Substitution - Missense 5:64200869-64200869 + YUKAE COSM1264368 c.61C>T p.R21C Substitution - Missense 5:64200868-64200868 + TCGA-FV-A2QQ-01 COSM4910832 c.658G>T p.A220S Substitution - Missense 5:64213984-64213984 + ESCC_92 COSM5637129 c.1171G>A p.E391K Substitution - Missense 5:64214497-64214497 + CSCC-49-T COSM4447038 c.1779G>AA p.? Unknown TCGA-AP-A051-01 COSM1595437 c.831C>T p.S277S Substitution - coding silent 5:64214157-64214157 + ACINAR28 COSM1735120 c.1262A>G p.N421S Substitution - Missense 5:64325220-64325220 + YUKAE COSM1264367 c.61C>T p.R21C Substitution - Missense 5:64200868-64200868 + 631060 COSM318390 c.166_167insT p.C57fs*42 Insertion - Frameshift 5:64212095-64212096 + CCC2 COSM3661873 c.1580-9A>G p.? Unknown 5:64369606-64369606 + Gp5D COSM3345850 c.1167G>A p.R389R Substitution - coding silent 5:64214493-64214493 + TCGA-BR-8680-01 COSM1595438 c.509G>A p.R170Q Substitution - Missense 5:64213835-64213835 + TCGA-FW-A3R5-06 COSM3920247 c.248G>A p.G83E Substitution - Missense 5:64213574-64213574 + 2492723 COSM5720336 c.1387G>A p.D463N Substitution - Missense 5:64325345-64325345 + TCGA-B7-5816-01 COSM3855853 c.1101C>T p.S367S Substitution - coding silent 5:64214427-64214427 + TCGA-04-1655-01 COSM1328730 c.1175G>C p.R392T Substitution - Missense 5:64214501-64214501 + TCGA-IH-A3EA-01 COSM3617368 c.317C>T p.S106F Substitution - Missense 5:64213643-64213643 + PD8979a COSM5792417 c.1186A>G p.K396E Substitution - Missense 5:64214512-64214512 + YUMOBER COSM1438140 c.1095G>A p.L365L Substitution - coding silent 5:64214421-64214421 + Au1 COSM5597505 c.1516C>T p.Q506* Substitution - Nonsense 5:64330343-64330343 + CSCC-29-T COSM4483163 c.267C>T p.F89F Substitution - coding silent 5:64213593-64213593 + TCGA-B2-4101-01 COSM3366122 c.409T>C p.Y137H Substitution - Missense 5:64213735-64213735 + 2334192 COSM314849 c.973A>G p.N325D Substitution - Missense 5:64214299-64214299 + CSCC-40-T COSM4448741 c.1228-2A>G p.? Unknown 5:64325184-64325184 + 8031680 COSM1159592 c.1172A>C p.E391A Substitution - Missense 5:64214498-64214498 + TCGA-EE-A2MI-06 COSM3617371 c.836C>T p.S279F Substitution - Missense 5:64214162-64214162 + TCGA-FS-A4F5-06 COSM1264367 c.61C>T p.R21C Substitution - Missense 5:64200868-64200868 + ESO-610 COSM1264368 c.61C>T p.R21C Substitution - Missense 5:64200868-64200868 + TCGA-CA-6717-01 COSM1438125 c.32A>C p.N11T Substitution - Missense 5:64200839-64200839 + OSCC-GB_00460111 COSM3715251 c.683C>A p.S228* Substitution - Nonsense 5:64214009-64214009 + TCGA-A3-3372-01 COSM1137362 c.541G>T p.A181S Substitution - Missense 5:64213867-64213867 + TCGA-D5-6930-01 COSM1438136 c.661A>G p.T221A Substitution - Missense 5:64213987-64213987 + PT27 COSM5905643 c.1394C>T p.P465L Substitution - Missense 5:64325352-64325352 + TCGA-BR-8680-01 COSM1069300 c.509G>A p.R170Q Substitution - Missense 5:64213835-64213835 + H1672 COSM314849 c.973A>G p.N325D Substitution - Missense 5:64214299-64214299 + TCGA-BR-8361-01 COSM3855844 c.491G>T p.R164M Substitution - Missense 5:64213817-64213817 + TCGA-IH-A3EA-01 COSM3617367 c.317C>T p.S106F Substitution - Missense 5:64213643-64213643 + TCGA-BR-4256-01 COSM3855843 c.418C>T p.H140Y Substitution - Missense 5:64213744-64213744 + sysucc-311T COSM5466510 c.1699A>G p.I567V Substitution - Missense 5:64369734-64369734 + TCGA-EE-A2MI-06 COSM3617372 c.836C>T p.S279F Substitution - Missense 5:64214162-64214162 + TCGA-CG-5721-01 COSM3855849 c.684A>G p.S228S Substitution - coding silent 5:64214010-64214010 + CRC-02T COSM5455417 c.136-1G>T p.? Unknown 5:64212064-64212064 + TCGA-AP-A051-01 COSM1595440 c.142G>A p.D48N Substitution - Missense 5:64212071-64212071 + 46T COSM3715250 c.683C>A p.S228* Substitution - Nonsense 5:64214009-64214009 + PA167 COSM1162559 c.167T>C p.I56T Substitution - Missense 5:64212096-64212096 + TCGA-AA-3693-01 COSM293335 c.832T>A p.Y278N Substitution - Missense 5:64214158-64214158 + STC246 COSM5061146 c.1268A>T p.Y423F Substitution - Missense 5:64325226-64325226 + C086 COSM5403694 c.635C>T p.P212L Substitution - Missense 5:64213961-64213961 + ICGC_0066 COSM1159592 c.1172A>C p.E391A Substitution - Missense 5:64214498-64214498 + TCGA-AA-3510-01 COSM1438142 c.1567C>A p.H523N Substitution - Missense 5:64330394-64330394 + BD57T COSM5510068 c.893_894insC p.H300fs*2 Insertion - Frameshift 5:64214219-64214220 + OSCC-GB_00940111 COSM4891733 c.1580G>T p.G527V Substitution - Missense 5:64369615-64369615 + AOCS-135-8-X COSM4142018 c.131T>C p.I44T Substitution - Missense 5:64200938-64200938 + CHC2141T COSM4790156 c.1205G>C p.G402A Substitution - Missense 5:64217374-64217374 + 12M COSM5577710 c.1779G>A p.*593* Substitution - coding silent 5:64369814-64369814 + HCC827S-R1 COSM1685121 c.657C>T p.C219C Substitution - coding silent 5:64213983-64213983 + TCGA-CA-6718-01 COSM3697360 c.770G>A p.R257K Substitution - Missense 5:64214096-64214096 + CSCC-16-T COSM4529781 c.1641G>A p.M547I Substitution - Missense 5:64369676-64369676 + ZZUFHECRKL-G052T COSM5431310 c.1275A>C p.E425D Substitution - Missense 5:64325233-64325233 + 2492724 COSM5724754 c.199C>T p.L67F Substitution - Missense 5:64212128-64212128 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.657826;Hs.657828;Hs.657829;Hs.657830;Hs.657832;Hs.657833;Hs.657834;Hs.657836;Hs.657837;Hs.657838;Hs.657839;Hs.657840;Hs.657841;Hs.657843 5q12.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.1227+21427A>C 5 63534650 CLL A C Missense p.E391A c.1172A>C 5 63510325 PAAD A G 3-UTRSNV . c.1776+1489A>G 5 63667127 HC A G 3-UTRSNV . c.1776+1509A>G 5 63667147 PIA A G IntronicSNV . c.1579+994A>G 5 63627227 CLL A G Missense p.N325D c.973A>G 5 63510126 SCLC AT - Frameshift p.H229Qfs*8 c.687_688delTA 5 63509839 LGG A T Missense p.H249L c.746A>T 5 63509899 LUAD A T SpliceAcceptorSNV . c.232-2A>T 5 63509383 HNSC C A Missense p.A544E c.1631C>A 5 63665493 MM C A Missense p.L332M c.994C>A 5 63510147 LUSC C A Missense p.L460M c.1378C>A 5 63621163 BRCA C A Missense p.S101R c.303C>A 5 63509456 NB C G Missense p.L209V c.625C>G 5 63509778 LUAD C T 3-UTRSNV . c.1776+2260C>T 5 63667898 MB - CT Frameshift p.S510Lfs*58 c.1527_1528insCT 5 63626181 UCEC C T Missense p.H140Y c.418C>T 5 63509571 STAD C T Missense p.P88L c.263C>T 5 63509416 CM C T Missense p.P88S c.262C>T 5 63509415 CM C T Missense p.R21C c.61C>T 5 63496695 CM C T Missense p.R21C c.61C>T 5 63496695 ESCA C T Missense p.R21C c.61C>T 5 63496695 STAD C T Missense p.S106F c.317C>T 5 63509470 CM C T Missense p.S279F c.836C>T 5 63509989 CM C T Missense p.S346L c.1037C>T 5 63510190 BRCA C T Synonymous p.D356D c.1068C>T 5 63510221 ESCA C T Synonymous p.S367S c.1101C>T 5 63510254 STAD G A Missense p.G176E c.527G>A 5 63509680 LUAD G A Missense p.G83R c.247G>A 5 63509400 CM G A Missense p.R187Q c.560G>A 5 63509713 ALL G A Missense p.R21H c.62G>A 5 63496696 BRCA G A SpliceAcceptorSNV . c.232-1G>A 5 63509384 HNSC G T 3-UTRSNV . c.1776+1158G>T 5 63666796 HC G T Missense p.A181S c.541G>T 5 63509694 RCCC T A Missense p.Y278N c.832T>A 5 63509985 COREAD T C IntronicSNV . c.1-16139T>C 5 63480496 CLL T C IntronicSNV . c.1227+48985T>C 5 63562208 PIA T C IntronicSNV . c.1227+49003T>C 5 63562226 PIA T C IntronicSNV . c.1580-5367T>C 5 63660075 CLL T C Missense p.Y137H c.409T>C 5 63509562 RCCC - T Frameshift p.C57Lfs*42 c.169dupT 5 63507923 SCLC