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 1 44877950 44877950 + Missense_Mutation SNP C C A TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr1:44877950C>A c.181C>A c.(181-183)Cct>Act p.P61T BLCA 1 44878025 44878025 + Missense_Mutation SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr1:44878025C>G c.256C>G c.(256-258)Cgt>Ggt p.R86G BLCA 1 44878058 44878058 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 g.chr1:44878058C>T c.289C>T c.(289-291)Cct>Tct p.P97S BLCA 1 44878061 44878061 + Nonsense_Mutation SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 g.chr1:44878061C>T c.292C>T c.(292-294)Caa>Taa p.Q98* BLCA 1 44878109 44878109 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr1:44878109C>G c.340C>G c.(340-342)Cat>Gat p.H114D BLCA 1 44878130 44878130 + Missense_Mutation SNP C C T TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr1:44878130C>T c.361C>T c.(361-363)Cgg>Tgg p.R121W BLCA 1 45088443 45088443 + Missense_Mutation SNP C C T TCGA-GU-A767-01A-11D-A32B-08 TCGA-GU-A767-10A-01D-A329-08 g.chr1:45088443C>T c.788C>T c.(787-789)gCt>gTt p.A263V BLCA 1 45101721 45101721 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 g.chr1:45101721C>T c.1013C>T c.(1012-1014)gCt>gTt p.A338V BLCA 1 45101777 45101777 + Missense_Mutation SNP G G C TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr1:45101777G>C c.1069G>C c.(1069-1071)Gag>Cag p.E357Q BLCA 1 45115332 45115332 + Splice_Site SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr1:45115332G>A c.e13-1 BLCA 1 45115364 45115364 + Missense_Mutation SNP G G C TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr1:45115364G>C c.1477G>C c.(1477-1479)Gag>Cag p.E493Q BRCA 1 44877815 44877815 + Missense_Mutation SNP C C T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 g.chr1:44877815C>T c.46C>T c.(46-48)Ctt>Ttt p.L16F BRCA 1 44877905 44877905 + Nonsense_Mutation SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 g.chr1:44877905C>T c.136C>T c.(136-138)Cga>Tga p.R46* BRCA 1 44878056 44878056 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr1:44878056A>C c.287A>C c.(286-288)cAc>cCc p.H96P BRCA 1 45110399 45110399 + Missense_Mutation SNP G G C TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 g.chr1:45110399G>C c.1156G>C c.(1156-1158)Gag>Cag p.E386Q CESC 1 44877992 44877992 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr1:44877992C>T c.223C>T c.(223-225)Cgg>Tgg p.R75W CESC 1 44878382 44878382 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr1:44878382C>G c.613C>G c.(613-615)Cgg>Ggg p.R205G CESC 1 45115372 45115372 + Silent SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr1:45115372G>C c.1485G>C c.(1483-1485)ctG>ctC p.L495L CESC 1 45115398 45115398 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 g.chr1:45115398G>A c.1511G>A c.(1510-1512)cGg>cAg p.R504Q CHOL 1 44877854 44877854 + Missense_Mutation SNP G G A TCGA-ZU-A8S4-01A-11D-A417-09 TCGA-ZU-A8S4-10A-01D-A41A-09 g.chr1:44877854G>A c.85G>A c.(85-87)Gca>Aca p.A29T COAD 1 44877905 44877905 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:44877905C>T c.136C>T c.(136-138)Cga>Tga p.R46* COAD 1 44877962 44877962 + Missense_Mutation SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr1:44877962G>A c.193G>A c.(193-195)Ggt>Agt p.G65S COAD 1 44878204 44878204 + Nonsense_Mutation SNP C C A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:44878204C>A c.435C>A c.(433-435)tgC>tgA p.C145* COAD 1 44878245 44878245 + Missense_Mutation SNP A A G TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr1:44878245A>G c.476A>G c.(475-477)gAt>gGt p.D159G COAD 1 44878305 44878305 + Missense_Mutation SNP T T C TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr1:44878305T>C c.536T>C c.(535-537)gTt>gCt p.V179A COAD 1 44878363 44878363 + Silent SNP C C T TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr1:44878363C>T c.594C>T c.(592-594)gcC>gcT p.A198A COAD 1 44878382 44878382 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:44878382C>T c.613C>T c.(613-615)Cgg>Tgg p.R205W COAD 1 45091980 45091980 + Missense_Mutation SNP G G C TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr1:45091980G>C c.816G>C c.(814-816)ttG>ttC p.L272F COAD 1 45101237 45101237 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:45101237C>T c.970C>T c.(970-972)Cgg>Tgg p.R324W COAD 1 45101824 45101824 + Silent SNP T T C TCGA-AA-3972-01A-01W-0995-10 TCGA-AA-3972-10A-01W-0999-10 g.chr1:45101824T>C c.1116T>C c.(1114-1116)ggT>ggC p.G372G COAD 1 45115566 45115566 + Silent SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr1:45115566G>A c.1566G>A c.(1564-1566)tcG>tcA p.S522S COAD 1 45115570 45115570 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr1:45115570C>T c.1570C>T c.(1570-1572)Ccc>Tcc p.P524S COADREAD 1 44877905 44877905 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:44877905C>T c.136C>T c.(136-138)Cga>Tga p.R46* COADREAD 1 44877962 44877962 + Missense_Mutation SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr1:44877962G>A c.193G>A c.(193-195)Ggt>Agt p.G65S COADREAD 1 44878204 44878204 + Nonsense_Mutation SNP C C A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:44878204C>A c.435C>A c.(433-435)tgC>tgA p.C145* COADREAD 1 44878245 44878245 + Missense_Mutation SNP A A G TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr1:44878245A>G c.476A>G c.(475-477)gAt>gGt p.D159G COADREAD 1 44878305 44878305 + Missense_Mutation SNP T T C TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr1:44878305T>C c.536T>C c.(535-537)gTt>gCt p.V179A COADREAD 1 44878363 44878363 + Silent SNP C C T TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr1:44878363C>T c.594C>T c.(592-594)gcC>gcT p.A198A COADREAD 1 44878382 44878382 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:44878382C>T c.613C>T c.(613-615)Cgg>Tgg p.R205W COADREAD 1 45091980 45091980 + Missense_Mutation SNP G G C TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr1:45091980G>C c.816G>C c.(814-816)ttG>ttC p.L272F COADREAD 1 45101237 45101237 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:45101237C>T c.970C>T c.(970-972)Cgg>Tgg p.R324W COADREAD 1 45101824 45101824 + Silent SNP T T C TCGA-AA-3972-01A-01W-0995-10 TCGA-AA-3972-10A-01W-0999-10 g.chr1:45101824T>C c.1116T>C c.(1114-1116)ggT>ggC p.G372G COADREAD 1 45115566 45115566 + Silent SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr1:45115566G>A c.1566G>A c.(1564-1566)tcG>tcA p.S522S COADREAD 1 45115570 45115570 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr1:45115570C>T c.1570C>T c.(1570-1572)Ccc>Tcc p.P524S ESCA 1 44877906 44877906 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr1:44877906G>A c.137G>A c.(136-138)cGa>cAa p.R46Q ESCA 1 45110739 45110739 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr1:45110739G>A c.1296G>A c.(1294-1296)cgG>cgA p.R432R ESCA 1 45115560 45115560 + Silent SNP G G A TCGA-V5-A7RC-01B-11D-A403-09 TCGA-V5-A7RC-10A-01D-A403-09 g.chr1:45115560G>A c.1560G>A c.(1558-1560)tcG>tcA p.S520S ESCA 1 45116421 45116421 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 g.chr1:45116421G>T c.1675G>T c.(1675-1677)Gga>Tga p.G559* GBMLGG 1 45110396 45110397 + Frame_Shift_Del DEL AA AA - TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr1:45110396_45110397delAA c.1153_1154delAA c.(1153-1155)aaafs p.K385fs HNSC 1 44878151 44878151 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 g.chr1:44878151G>A c.382G>A c.(382-384)Gac>Aac p.D128N HNSC 1 44878355 44878355 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 g.chr1:44878355C>T c.586C>T c.(586-588)Cgg>Tgg p.R196W HNSC 1 45091998 45091998 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chr1:45091998G>A c.834G>A c.(832-834)agG>agA p.R278R KIPAN 1 44878049 44878049 + Missense_Mutation SNP C C A TCGA-B0-5705-01A-11D-1534-10 TCGA-B0-5705-11A-01D-1534-10 g.chr1:44878049C>A c.280C>A c.(280-282)Cac>Aac p.H94N KIRC 1 44878049 44878049 + Missense_Mutation SNP C C A TCGA-B0-5705-01A-11D-1534-10 TCGA-B0-5705-11A-01D-1534-10 g.chr1:44878049C>A c.280C>A c.(280-282)Cac>Aac p.H94N LGG 1 45110396 45110397 + Frame_Shift_Del DEL AA AA - TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr1:45110396_45110397delAA c.1153_1154delAA c.(1153-1155)aaafs p.K385fs LIHC 1 45092001 45092001 + Silent SNP A A G TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr1:45092001A>G c.837A>G c.(835-837)gaA>gaG p.E279E LIHC 1 45111114 45111114 + Nonsense_Mutation SNP A A T TCGA-EP-A2KC-01A-11D-A20W-10 TCGA-EP-A2KC-10A-01D-A20W-10 g.chr1:45111114A>T c.1399A>T c.(1399-1401)Aag>Tag p.K467* LIHC 1 45111132 45111132 + Missense_Mutation SNP A A G TCGA-MR-A8JO-01A-12D-A35Z-10 TCGA-MR-A8JO-10A-01D-A35Z-10 g.chr1:45111132A>G c.1417A>G c.(1417-1419)Aag>Gag p.K473E LIHC 1 45115396 45115396 + Silent SNP A A G TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr1:45115396A>G c.1509A>G c.(1507-1509)gaA>gaG p.E503E LUAD 1 44878028 44878028 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr1:44878028G>T c.259G>T c.(259-261)Gat>Tat p.D87Y LUAD 1 44878266 44878266 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 g.chr1:44878266G>T c.497G>T c.(496-498)gGg>gTg p.G166V LUAD 1 44878341 44878341 + Missense_Mutation SNP G G T TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr1:44878341G>T c.572G>T c.(571-573)gGc>gTc p.G191V LUAD 1 45088460 45088460 + Splice_Site SNP G G A TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr1:45088460G>A c.e4+1 LUSC 1 44878026 44878026 + Missense_Mutation SNP G G T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chr1:44878026G>T c.257G>T c.(256-258)cGt>cTt p.R86L LUSC 1 45101781 45101781 + Missense_Mutation SNP G G T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr1:45101781G>T c.1073G>T c.(1072-1074)tGg>tTg p.W358L LUSC 1 45110680 45110680 + Missense_Mutation SNP G G A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr1:45110680G>A c.1237G>A c.(1237-1239)Gat>Aat p.D413N OV 1 44878304 44878304 + Missense_Mutation SNP G G A TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 g.chr1:44878304G>A c.535G>A c.(535-537)Gtt>Att p.V179I OV 1 44878361 44878361 + Missense_Mutation SNP G G T TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 g.chr1:44878361G>T c.592G>T c.(592-594)Gcc>Tcc p.A198S OV 1 44878386 44878386 + Missense_Mutation SNP A A T TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 g.chr1:44878386A>T c.617A>T c.(616-618)aAt>aTt p.N206I PAAD 1 44878230 44878230 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 g.chr1:44878230G>A c.461G>A c.(460-462)cGc>cAc p.R154H PAAD 1 45079892 45079892 + Nonsense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:45079892C>A c.681C>A c.(679-681)tgC>tgA p.C227* PAAD 1 45111149 45111149 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:45111149C>T c.1434C>T c.(1432-1434)agC>agT p.S478S PAAD 1 45111155 45111155 + Silent SNP C C T TCGA-FZ-5923-01A-12D-1609-08 TCGA-FZ-5923-11A-01D-1609-08 g.chr1:45111155C>T c.1440C>T c.(1438-1440)atC>atT p.I480I PRAD 1 44877961 44877961 + Silent SNP C C T TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 g.chr1:44877961C>T c.192C>T c.(190-192)aaC>aaT p.N64N PRAD 1 44878184 44878184 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 g.chr1:44878184G>A c.415G>A c.(415-417)Gcc>Acc p.A139T PRAD 1 45091982 45091982 + Missense_Mutation SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:45091982C>A c.818C>A c.(817-819)tCt>tAt p.S273Y SKCM 1 44877799 44877799 + Missense_Mutation SNP G G A TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr1:44877799G>A c.30G>A c.(28-30)atG>atA p.M10I SKCM 1 44877835 44877835 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:44877835C>T c.66C>T c.(64-66)tcC>tcT p.S22S SKCM 1 44877836 44877836 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:44877836C>T c.67C>T c.(67-69)Cca>Tca p.P23S SKCM 1 44878025 44878025 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:44878025C>T c.256C>T c.(256-258)Cgt>Tgt p.R86C SKCM 1 44878025 44878025 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr1:44878025C>T c.256C>T c.(256-258)Cgt>Tgt p.R86C SKCM 1 44878033 44878033 + Silent SNP C C T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr1:44878033C>T c.264C>T c.(262-264)ttC>ttT p.F88F SKCM 1 44878037 44878037 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:44878037C>T c.268C>T c.(268-270)Cct>Tct p.P90S SKCM 1 44878091 44878091 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr1:44878091C>T c.322C>T c.(322-324)Cca>Tca p.P108S SKCM 1 44878220 44878220 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:44878220C>T c.451C>T c.(451-453)Ccc>Tcc p.P151S SKCM 1 45079881 45079881 + Missense_Mutation SNP T T C TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:45079881T>C c.670T>C c.(670-672)Tgc>Cgc p.C224R SKCM 1 45091971 45091971 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr1:45091971C>T c.807C>T c.(805-807)tcC>tcT p.S269S SKCM 1 45092050 45092050 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr1:45092050C>T c.886C>T c.(886-888)Cac>Tac p.H296Y SKCM 1 45110434 45110434 + Silent SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:45110434T>C c.1191T>C c.(1189-1191)gaT>gaC p.D397D

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 45098049 45098049 single base substitution G A exon_variant BLCA-CN 1 45098049 45098049 single base substitution G A missense_variant R30Q 89G>A BLCA-CN 1 45098049 45098049 single base substitution G A missense_variant R314Q 941G>A BLCA-CN 1 45098049 45098049 single base substitution G A missense_variant R36Q 107G>A BLCA-CN 1 45098049 45098049 single base substitution G A missense_variant R75Q 224G>A BLCA-CN 1 45098049 45098049 single base substitution G A upstream_gene_variant BLCA-US 1 44878109 44878109 single base substitution C G downstream_gene_variant BLCA-US 1 44878109 44878109 single base substitution C G missense_variant H114D 340C>G BLCA-US 1 44878109 44878109 single base substitution C G upstream_gene_variant BLCA-US 1 45101242 45101242 single base substitution G A exon_variant BLCA-US 1 45101242 45101242 single base substitution G A synonymous_variant R325R 975G>A BLCA-US 1 45101242 45101242 single base substitution G A synonymous_variant R41R 123G>A BLCA-US 1 45101242 45101242 single base substitution G A synonymous_variant R47R 141G>A BLCA-US 1 45101242 45101242 single base substitution G A synonymous_variant R86R 258G>A BLCA-US 1 45101242 45101242 single base substitution G A upstream_gene_variant BLCA-US 1 45115332 45115332 single base substitution G A downstream_gene_variant BLCA-US 1 45115332 45115332 single base substitution G A exon_variant BLCA-US 1 45115332 45115332 single base substitution G A splice_acceptor_variant BLCA-US 1 45120323 45120323 single base substitution C T downstream_gene_variant BLCA-US 1 45120468 45120468 single base substitution G C downstream_gene_variant BOCA-FR 1 44881675 44881675 single base substitution G A downstream_gene_variant BOCA-FR 1 44881675 44881675 single base substitution G A intron_variant BOCA-FR 1 44885525 44885525 single base substitution C T exon_variant BOCA-FR 1 44885525 44885525 single base substitution C T intron_variant BOCA-FR 1 44885525 44885525 single base substitution C T upstream_gene_variant BOCA-FR 1 44906876 44906876 single base substitution G A intron_variant BOCA-FR 1 44938770 44938771 multiple base substitution (>=2bp and <=200bp) GG CT intron_variant BOCA-FR 1 44966481 44966481 single base substitution G C intron_variant BRCA-EU 1 44865884 44865884 single base substitution G T upstream_gene_variant BRCA-EU 1 44866034 44866034 single base substitution A C upstream_gene_variant BRCA-EU 1 44866074 44866074 single base substitution G C upstream_gene_variant BRCA-EU 1 44866645 44866645 single base substitution T A upstream_gene_variant BRCA-EU 1 44866681 44866681 single base substitution C T upstream_gene_variant BRCA-EU 1 44868129 44868129 single base substitution G A upstream_gene_variant BRCA-EU 1 44870047 44870047 single base substitution T A upstream_gene_variant BRCA-EU 1 44870220 44870220 single base substitution G C upstream_gene_variant BRCA-EU 1 44871229 44871229 single base substitution C G intron_variant BRCA-EU 1 44871229 44871229 single base substitution C G upstream_gene_variant BRCA-EU 1 44872290 44872290 single base substitution C A intron_variant BRCA-EU 1 44872290 44872290 single base substitution C A upstream_gene_variant BRCA-EU 1 44872402 44872402 single base substitution G A intron_variant BRCA-EU 1 44872402 44872402 single base substitution G A upstream_gene_variant BRCA-EU 1 44873910 44873910 single base substitution T C intron_variant BRCA-EU 1 44873910 44873910 single base substitution T C upstream_gene_variant BRCA-EU 1 44874529 44874529 single base substitution G A exon_variant BRCA-EU 1 44874529 44874529 single base substitution G A intron_variant BRCA-EU 1 44874529 44874529 single base substitution G A upstream_gene_variant BRCA-EU 1 44874686 44874686 single base substitution G A intron_variant BRCA-EU 1 44874686 44874686 single base substitution G A upstream_gene_variant BRCA-EU 1 44875475 44875475 single base substitution C A intron_variant BRCA-EU 1 44875475 44875475 single base substitution C A upstream_gene_variant BRCA-EU 1 44875476 44875476 single base substitution T G intron_variant BRCA-EU 1 44875476 44875476 single base substitution T G upstream_gene_variant BRCA-EU 1 44875632 44875632 single base substitution G A intron_variant BRCA-EU 1 44875632 44875632 single base substitution G A upstream_gene_variant BRCA-EU 1 44876345 44876345 single base substitution C T exon_variant BRCA-EU 1 44876345 44876345 single base substitution C T intron_variant BRCA-EU 1 44876345 44876345 single base substitution C T upstream_gene_variant BRCA-EU 1 44876926 44876926 single base substitution G A intron_variant BRCA-EU 1 44876926 44876926 single base substitution G A upstream_gene_variant BRCA-EU 1 44877935 44877935 single base substitution A T downstream_gene_variant BRCA-EU 1 44877935 44877935 single base substitution A T stop_gained K56* 166A>T BRCA-EU 1 44877935 44877935 single base substitution A T upstream_gene_variant BRCA-EU 1 44878087 44878087 single base substitution C A downstream_gene_variant BRCA-EU 1 44878087 44878087 single base substitution C A stop_gained C106* 318C>A BRCA-EU 1 44878087 44878087 single base substitution C A upstream_gene_variant BRCA-EU 1 44879106 44879106 single base substitution C A downstream_gene_variant BRCA-EU 1 44879106 44879106 single base substitution C A intron_variant BRCA-EU 1 44879683 44879683 single base substitution T C downstream_gene_variant BRCA-EU 1 44879683 44879683 single base substitution T C intron_variant BRCA-EU 1 44880040 44880040 single base substitution A T downstream_gene_variant BRCA-EU 1 44880040 44880040 single base substitution A T intron_variant BRCA-EU 1 44880511 44880511 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 44880511 44880511 deletion of <=200bp T - intron_variant BRCA-EU 1 44880995 44880995 single base substitution G C downstream_gene_variant BRCA-EU 1 44880995 44880995 single base substitution G C intron_variant BRCA-EU 1 44882279 44882279 single base substitution A G downstream_gene_variant BRCA-EU 1 44882279 44882279 single base substitution A G intron_variant BRCA-EU 1 44884450 44884450 single base substitution C A intron_variant BRCA-EU 1 44885923 44885923 single base substitution G T downstream_gene_variant BRCA-EU 1 44885923 44885923 single base substitution G T intron_variant BRCA-EU 1 44885923 44885923 single base substitution G T upstream_gene_variant BRCA-EU 1 44886054 44886054 single base substitution A C downstream_gene_variant BRCA-EU 1 44886054 44886054 single base substitution A C intron_variant BRCA-EU 1 44886054 44886054 single base substitution A C upstream_gene_variant BRCA-EU 1 44886055 44886055 single base substitution G T downstream_gene_variant BRCA-EU 1 44886055 44886055 single base substitution G T intron_variant BRCA-EU 1 44886055 44886055 single base substitution G T upstream_gene_variant BRCA-EU 1 44886397 44886397 single base substitution C G downstream_gene_variant BRCA-EU 1 44886397 44886397 single base substitution C G intron_variant BRCA-EU 1 44886397 44886397 single base substitution C G upstream_gene_variant BRCA-EU 1 44886725 44886725 single base substitution G C downstream_gene_variant BRCA-EU 1 44886725 44886725 single base substitution G C intron_variant BRCA-EU 1 44886725 44886725 single base substitution G C upstream_gene_variant BRCA-EU 1 44889071 44889071 single base substitution A T downstream_gene_variant BRCA-EU 1 44889071 44889071 single base substitution A T intron_variant BRCA-EU 1 44889071 44889071 single base substitution A T upstream_gene_variant BRCA-EU 1 44889418 44889418 single base substitution C G downstream_gene_variant BRCA-EU 1 44889418 44889418 single base substitution C G intron_variant BRCA-EU 1 44889418 44889418 single base substitution C G upstream_gene_variant BRCA-EU 1 44889887 44889887 insertion of <=200bp - AG downstream_gene_variant BRCA-EU 1 44889887 44889887 insertion of <=200bp - AG intron_variant BRCA-EU 1 44890236 44890236 single base substitution G A downstream_gene_variant BRCA-EU 1 44890236 44890236 single base substitution G A intron_variant BRCA-EU 1 44890294 44890294 single base substitution C T downstream_gene_variant BRCA-EU 1 44890294 44890294 single base substitution C T intron_variant BRCA-EU 1 44891020 44891020 single base substitution G C intron_variant BRCA-EU 1 44891437 44891437 single base substitution T A intron_variant BRCA-EU 1 44892506 44892506 single base substitution C A intron_variant BRCA-EU 1 44893082 44893082 single base substitution C T intron_variant BRCA-EU 1 44894913 44894913 single base substitution G A intron_variant BRCA-EU 1 44896520 44896520 deletion of <=200bp A - intron_variant BRCA-EU 1 44899529 44899529 single base substitution G C intron_variant BRCA-EU 1 44900001 44900001 single base substitution C T intron_variant BRCA-EU 1 44900256 44900256 single base substitution G A intron_variant BRCA-EU 1 44903882 44903882 single base substitution T C intron_variant BRCA-EU 1 44904889 44904889 single base substitution G C intron_variant BRCA-EU 1 44904976 44904976 single base substitution A G intron_variant BRCA-EU 1 44905310 44905310 single base substitution C A intron_variant BRCA-EU 1 44905591 44905591 single base substitution A G intron_variant BRCA-EU 1 44905671 44905671 single base substitution A T intron_variant BRCA-EU 1 44906095 44906095 single base substitution G A intron_variant BRCA-EU 1 44908118 44908118 single base substitution A G intron_variant BRCA-EU 1 44908860 44908886 deletion of <=200bp AAACCAGATTTACCATCTTCTCCCACT - intron_variant BRCA-EU 1 44909330 44909330 single base substitution G T intron_variant BRCA-EU 1 44910541 44910541 single base substitution G A intron_variant BRCA-EU 1 44911569 44911569 single base substitution C T intron_variant BRCA-EU 1 44912580 44912580 single base substitution G A intron_variant BRCA-EU 1 44912781 44912781 single base substitution C G intron_variant BRCA-EU 1 44913414 44913414 single base substitution G C intron_variant BRCA-EU 1 44915601 44915601 single base substitution G C intron_variant BRCA-EU 1 44915668 44915668 single base substitution G A intron_variant BRCA-EU 1 44917427 44917427 single base substitution G A intron_variant BRCA-EU 1 44919120 44919120 single base substitution C T intron_variant BRCA-EU 1 44920203 44920203 single base substitution G T intron_variant BRCA-EU 1 44921048 44921048 single base substitution G A intron_variant BRCA-EU 1 44923912 44923912 single base substitution G C intron_variant BRCA-EU 1 44924730 44924730 single base substitution T G intron_variant BRCA-EU 1 44924751 44924751 single base substitution A G intron_variant BRCA-EU 1 44925262 44925262 single base substitution G A intron_variant BRCA-EU 1 44925968 44925968 single base substitution G A intron_variant BRCA-EU 1 44926332 44926332 single base substitution G T intron_variant BRCA-EU 1 44927396 44927396 single base substitution G C intron_variant BRCA-EU 1 44928367 44928367 single base substitution C T intron_variant BRCA-EU 1 44929450 44929450 single base substitution G T intron_variant BRCA-EU 1 44930120 44930120 single base substitution A G intron_variant BRCA-EU 1 44930559 44930559 single base substitution T A intron_variant BRCA-EU 1 44930673 44930673 single base substitution G C intron_variant BRCA-EU 1 44930961 44930961 single base substitution A G intron_variant BRCA-EU 1 44934022 44934022 single base substitution T A intron_variant BRCA-EU 1 44940401 44940401 single base substitution C A intron_variant BRCA-EU 1 44940615 44940615 single base substitution C T intron_variant BRCA-EU 1 44941473 44941473 single base substitution C T intron_variant BRCA-EU 1 44943346 44943346 single base substitution C A intron_variant BRCA-EU 1 44943415 44943415 single base substitution G C intron_variant BRCA-EU 1 44943877 44943877 single base substitution C A intron_variant BRCA-EU 1 44944794 44944794 single base substitution T C intron_variant BRCA-EU 1 44947312 44947312 single base substitution T A intron_variant BRCA-EU 1 44948039 44948039 single base substitution G C intron_variant BRCA-EU 1 44948472 44948472 single base substitution T G intron_variant BRCA-EU 1 44951098 44951098 single base substitution T G intron_variant BRCA-EU 1 44951421 44951421 single base substitution T C intron_variant BRCA-EU 1 44953938 44953938 single base substitution G C intron_variant BRCA-EU 1 44954152 44954152 single base substitution T A intron_variant BRCA-EU 1 44955556 44955556 single base substitution C G intron_variant BRCA-EU 1 44956107 44956107 single base substitution C A intron_variant BRCA-EU 1 44956989 44956989 insertion of <=200bp - AT intron_variant BRCA-EU 1 44957076 44957076 single base substitution C G intron_variant BRCA-EU 1 44957988 44957988 single base substitution G A intron_variant BRCA-EU 1 44958082 44958082 single base substitution C T intron_variant BRCA-EU 1 44958453 44958453 single base substitution G T intron_variant BRCA-EU 1 44959239 44959239 single base substitution G C intron_variant BRCA-EU 1 44962981 44962981 single base substitution C T intron_variant BRCA-EU 1 44964423 44964423 single base substitution C T intron_variant BRCA-EU 1 44964764 44964764 single base substitution C T intron_variant BRCA-EU 1 44965304 44965304 single base substitution G A intron_variant BRCA-EU 1 44968382 44968382 single base substitution C G intron_variant BRCA-EU 1 44969406 44969406 single base substitution T C intron_variant BRCA-EU 1 44969436 44969436 single base substitution C T intron_variant BRCA-EU 1 44971133 44971133 single base substitution G A intron_variant BRCA-EU 1 44971675 44971675 deletion of <=200bp G - intron_variant BRCA-EU 1 44971735 44971735 single base substitution G C intron_variant BRCA-EU 1 44971810 44971810 single base substitution C G intron_variant BRCA-EU 1 44972029 44972029 single base substitution T C intron_variant BRCA-EU 1 44972932 44972932 single base substitution C T intron_variant BRCA-EU 1 44973431 44973431 single base substitution C T intron_variant BRCA-EU 1 44974453 44974453 single base substitution G A intron_variant BRCA-EU 1 44975168 44975168 single base substitution G C intron_variant BRCA-EU 1 44975648 44975648 single base substitution G T intron_variant BRCA-EU 1 44976134 44976134 single base substitution C A intron_variant BRCA-EU 1 44976155 44976155 single base substitution G C intron_variant BRCA-EU 1 44976237 44976237 single base substitution C A intron_variant BRCA-EU 1 44976626 44976626 single base substitution C T intron_variant BRCA-EU 1 44977670 44977670 single base substitution C G intron_variant BRCA-EU 1 44977736 44977736 single base substitution G T intron_variant BRCA-EU 1 44978243 44978243 single base substitution C T intron_variant BRCA-EU 1 44978389 44978389 single base substitution G A intron_variant BRCA-EU 1 44978774 44978774 single base substitution A T intron_variant BRCA-EU 1 44980500 44980500 single base substitution A T intron_variant BRCA-EU 1 44980574 44980574 single base substitution C A intron_variant BRCA-EU 1 44980794 44980794 single base substitution G C intron_variant BRCA-EU 1 44981001 44981001 single base substitution G T intron_variant BRCA-EU 1 44981580 44981580 single base substitution C A intron_variant BRCA-EU 1 44982373 44982373 single base substitution C T intron_variant BRCA-EU 1 44982598 44982598 single base substitution A G intron_variant BRCA-EU 1 44983680 44983680 single base substitution G A intron_variant BRCA-EU 1 44984374 44984374 single base substitution C T intron_variant BRCA-EU 1 44984619 44984619 single base substitution G C intron_variant BRCA-EU 1 44984640 44984640 single base substitution G T intron_variant BRCA-EU 1 44984698 44984698 single base substitution A G intron_variant BRCA-EU 1 44987205 44987205 single base substitution G A intron_variant BRCA-EU 1 44988017 44988017 single base substitution C G intron_variant BRCA-EU 1 44988708 44988708 single base substitution G A intron_variant BRCA-EU 1 44988903 44988903 single base substitution C T intron_variant BRCA-EU 1 44988934 44988934 single base substitution C T intron_variant BRCA-EU 1 44990470 44990470 single base substitution G A intron_variant BRCA-EU 1 44993459 44993459 single base substitution A G intron_variant BRCA-EU 1 44993555 44993555 single base substitution A G intron_variant BRCA-EU 1 44994414 44994414 single base substitution G C intron_variant BRCA-EU 1 44995397 44995397 single base substitution G A intron_variant BRCA-EU 1 44995713 44995713 single base substitution G C intron_variant BRCA-EU 1 44997230 44997230 single base substitution C T intron_variant BRCA-EU 1 44997645 44997645 insertion of <=200bp - C intron_variant BRCA-EU 1 44997786 44997786 single base substitution C A intron_variant BRCA-EU 1 44998551 44998551 single base substitution G C intron_variant BRCA-EU 1 44998715 44998715 single base substitution T A intron_variant BRCA-EU 1 44998885 44998885 single base substitution G A intron_variant BRCA-EU 1 44999270 44999270 single base substitution G A intron_variant BRCA-EU 1 44999300 44999300 single base substitution C G intron_variant BRCA-EU 1 45000318 45000318 single base substitution G T intron_variant BRCA-EU 1 45001016 45001016 single base substitution T G intron_variant BRCA-EU 1 45001053 45001053 single base substitution C A intron_variant BRCA-EU 1 45002026 45002026 single base substitution G C intron_variant BRCA-EU 1 45002332 45002332 single base substitution A T intron_variant BRCA-EU 1 45003167 45003167 single base substitution T C intron_variant BRCA-EU 1 45003272 45003272 single base substitution G A intron_variant BRCA-EU 1 45004084 45004084 single base substitution G A intron_variant BRCA-EU 1 45004617 45004617 single base substitution G A intron_variant BRCA-EU 1 45004812 45004812 single base substitution G A intron_variant BRCA-EU 1 45006029 45006029 deletion of <=200bp A - intron_variant BRCA-EU 1 45006207 45006207 single base substitution C T intron_variant BRCA-EU 1 45008889 45008889 single base substitution G A intron_variant BRCA-EU 1 45009368 45009368 deletion of <=200bp A - intron_variant BRCA-EU 1 45009650 45009650 single base substitution A G intron_variant BRCA-EU 1 45011056 45011056 single base substitution G T intron_variant BRCA-EU 1 45012816 45012816 single base substitution G A intron_variant BRCA-EU 1 45014209 45014209 single base substitution A G intron_variant BRCA-EU 1 45015027 45015027 single base substitution G A intron_variant BRCA-EU 1 45017117 45017117 single base substitution G A intron_variant BRCA-EU 1 45017525 45017525 single base substitution G T intron_variant BRCA-EU 1 45017563 45017563 single base substitution G C intron_variant BRCA-EU 1 45021129 45021129 single base substitution G A intron_variant BRCA-EU 1 45022347 45022347 single base substitution T C intron_variant BRCA-EU 1 45022348 45022348 single base substitution C T intron_variant BRCA-EU 1 45022392 45022392 single base substitution T G intron_variant BRCA-EU 1 45022631 45022631 single base substitution T A intron_variant BRCA-EU 1 45022759 45022759 insertion of <=200bp - AT intron_variant BRCA-EU 1 45025492 45025492 single base substitution A T intron_variant BRCA-EU 1 45025877 45025877 single base substitution G A intron_variant BRCA-EU 1 45027083 45027083 single base substitution G A intron_variant BRCA-EU 1 45027364 45027364 single base substitution G T intron_variant BRCA-EU 1 45028581 45028581 single base substitution C T intron_variant BRCA-EU 1 45029066 45029066 single base substitution G C intron_variant BRCA-EU 1 45029195 45029195 single base substitution G A intron_variant BRCA-EU 1 45030326 45030326 single base substitution G A intron_variant BRCA-EU 1 45034247 45034247 single base substitution G C intron_variant BRCA-EU 1 45035034 45035034 single base substitution A T intron_variant BRCA-EU 1 45035425 45035425 single base substitution A G intron_variant BRCA-EU 1 45036414 45036414 single base substitution C T intron_variant BRCA-EU 1 45036616 45036616 single base substitution C T intron_variant BRCA-EU 1 45036672 45036672 single base substitution G A intron_variant BRCA-EU 1 45040114 45040114 single base substitution C A intron_variant BRCA-EU 1 45041309 45041309 single base substitution A C intron_variant BRCA-EU 1 45042836 45042836 single base substitution G C intron_variant BRCA-EU 1 45043263 45043263 single base substitution T G intron_variant BRCA-EU 1 45045348 45045348 single base substitution G C intron_variant BRCA-EU 1 45045455 45045455 single base substitution C A intron_variant BRCA-EU 1 45045963 45045963 single base substitution T C intron_variant BRCA-EU 1 45046051 45046051 single base substitution G T intron_variant BRCA-EU 1 45047192 45047192 single base substitution G A intron_variant BRCA-EU 1 45047297 45047297 single base substitution C T intron_variant BRCA-EU 1 45048826 45048826 single base substitution G A intron_variant BRCA-EU 1 45049041 45049041 single base substitution A G intron_variant BRCA-EU 1 45049436 45049436 deletion of <=200bp T - intron_variant BRCA-EU 1 45049849 45049849 single base substitution G C intron_variant BRCA-EU 1 45052321 45052321 single base substitution G A intron_variant BRCA-EU 1 45052772 45052772 single base substitution G A intron_variant BRCA-EU 1 45053137 45053137 single base substitution A G intron_variant BRCA-EU 1 45055192 45055192 single base substitution G A intron_variant BRCA-EU 1 45055219 45055219 single base substitution G C intron_variant BRCA-EU 1 45056436 45056436 single base substitution T G intron_variant BRCA-EU 1 45057003 45057003 single base substitution G T intron_variant BRCA-EU 1 45059082 45059082 single base substitution T G intron_variant BRCA-EU 1 45060351 45060351 single base substitution G C intron_variant BRCA-EU 1 45060784 45060784 single base substitution C G intron_variant BRCA-EU 1 45061466 45061466 single base substitution C T intron_variant BRCA-EU 1 45061546 45061546 single base substitution C G intron_variant BRCA-EU 1 45062329 45062329 single base substitution G T intron_variant BRCA-EU 1 45062634 45062634 single base substitution G A intron_variant BRCA-EU 1 45064317 45064317 single base substitution G A intron_variant BRCA-EU 1 45065072 45065072 single base substitution C T intron_variant BRCA-EU 1 45066736 45066736 single base substitution G C intron_variant BRCA-EU 1 45066915 45066915 single base substitution A T intron_variant BRCA-EU 1 45066997 45066997 single base substitution G A intron_variant BRCA-EU 1 45067563 45067563 single base substitution G T intron_variant BRCA-EU 1 45070297 45070297 single base substitution C G intron_variant BRCA-EU 1 45072158 45072158 single base substitution G A intron_variant BRCA-EU 1 45075028 45075028 single base substitution T G intron_variant BRCA-EU 1 45075028 45075028 single base substitution T G upstream_gene_variant BRCA-EU 1 45075036 45075036 single base substitution C A intron_variant BRCA-EU 1 45075036 45075036 single base substitution C A upstream_gene_variant BRCA-EU 1 45075651 45075651 single base substitution A C intron_variant BRCA-EU 1 45075651 45075651 single base substitution A C upstream_gene_variant BRCA-EU 1 45076172 45076172 single base substitution G A intron_variant BRCA-EU 1 45076172 45076172 single base substitution G A upstream_gene_variant BRCA-EU 1 45076374 45076374 single base substitution G C intron_variant BRCA-EU 1 45076374 45076374 single base substitution G C upstream_gene_variant BRCA-EU 1 45078177 45078177 single base substitution C G intron_variant BRCA-EU 1 45078177 45078177 single base substitution C G upstream_gene_variant BRCA-EU 1 45078184 45078184 single base substitution T A intron_variant BRCA-EU 1 45078184 45078184 single base substitution T A upstream_gene_variant BRCA-EU 1 45078809 45078809 single base substitution G C intron_variant BRCA-EU 1 45078809 45078809 single base substitution G C upstream_gene_variant BRCA-EU 1 45078834 45078834 single base substitution T C intron_variant BRCA-EU 1 45078834 45078834 single base substitution T C upstream_gene_variant BRCA-EU 1 45079886 45079886 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 45079886 45079886 single base substitution C T synonymous_variant P225P 675C>T BRCA-EU 1 45079886 45079886 single base substitution C T upstream_gene_variant BRCA-EU 1 45082151 45082151 single base substitution G A intron_variant BRCA-EU 1 45082740 45082740 single base substitution C G intron_variant BRCA-EU 1 45082982 45082982 insertion of <=200bp - TC intron_variant BRCA-EU 1 45084691 45084691 single base substitution G A intron_variant BRCA-EU 1 45084806 45084806 single base substitution G T intron_variant BRCA-EU 1 45085506 45085506 single base substitution C T intron_variant BRCA-EU 1 45091384 45091384 single base substitution T C intron_variant BRCA-EU 1 45091384 45091384 single base substitution T C upstream_gene_variant BRCA-EU 1 45091437 45091437 deletion of <=200bp G - intron_variant BRCA-EU 1 45091437 45091437 deletion of <=200bp G - upstream_gene_variant BRCA-EU 1 45093533 45093533 single base substitution G C downstream_gene_variant BRCA-EU 1 45093533 45093533 single base substitution G C intron_variant BRCA-EU 1 45093533 45093533 single base substitution G C upstream_gene_variant BRCA-EU 1 45093960 45093960 single base substitution A T downstream_gene_variant BRCA-EU 1 45093960 45093960 single base substitution A T intron_variant BRCA-EU 1 45093960 45093960 single base substitution A T upstream_gene_variant BRCA-EU 1 45094048 45094048 single base substitution C T downstream_gene_variant BRCA-EU 1 45094048 45094048 single base substitution C T intron_variant BRCA-EU 1 45094048 45094048 single base substitution C T upstream_gene_variant BRCA-EU 1 45094141 45094141 single base substitution A G downstream_gene_variant BRCA-EU 1 45094141 45094141 single base substitution A G intron_variant BRCA-EU 1 45094141 45094141 single base substitution A G upstream_gene_variant BRCA-EU 1 45094188 45094188 single base substitution C T downstream_gene_variant BRCA-EU 1 45094188 45094188 single base substitution C T intron_variant BRCA-EU 1 45094188 45094188 single base substitution C T upstream_gene_variant BRCA-EU 1 45094854 45094854 single base substitution G A downstream_gene_variant BRCA-EU 1 45094854 45094854 single base substitution G A intron_variant BRCA-EU 1 45094854 45094854 single base substitution G A upstream_gene_variant BRCA-EU 1 45095171 45095171 single base substitution G C downstream_gene_variant BRCA-EU 1 45095171 45095171 single base substitution G C intron_variant BRCA-EU 1 45095171 45095171 single base substitution G C upstream_gene_variant BRCA-EU 1 45095361 45095361 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 45095361 45095361 deletion of <=200bp A - intron_variant BRCA-EU 1 45095361 45095361 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 45095452 45095452 single base substitution G C downstream_gene_variant BRCA-EU 1 45095452 45095452 single base substitution G C intron_variant BRCA-EU 1 45095452 45095452 single base substitution G C upstream_gene_variant BRCA-EU 1 45100220 45100220 single base substitution C G intron_variant BRCA-EU 1 45100220 45100220 single base substitution C G upstream_gene_variant BRCA-EU 1 45100416 45100416 single base substitution T A intron_variant BRCA-EU 1 45100416 45100416 single base substitution T A upstream_gene_variant BRCA-EU 1 45100870 45100870 single base substitution A C intron_variant BRCA-EU 1 45100870 45100870 single base substitution A C upstream_gene_variant BRCA-EU 1 45102000 45102000 single base substitution T A 3_prime_UTR_variant BRCA-EU 1 45102000 45102000 single base substitution T A downstream_gene_variant BRCA-EU 1 45102000 45102000 single base substitution T A intron_variant BRCA-EU 1 45102000 45102000 single base substitution T A upstream_gene_variant BRCA-EU 1 45102320 45102320 single base substitution G A downstream_gene_variant BRCA-EU 1 45102320 45102320 single base substitution G A intron_variant BRCA-EU 1 45102320 45102320 single base substitution G A upstream_gene_variant BRCA-EU 1 45103403 45103403 single base substitution C T downstream_gene_variant BRCA-EU 1 45103403 45103403 single base substitution C T intron_variant BRCA-EU 1 45103403 45103403 single base substitution C T upstream_gene_variant BRCA-EU 1 45103594 45103594 single base substitution C G downstream_gene_variant BRCA-EU 1 45103594 45103594 single base substitution C G intron_variant BRCA-EU 1 45103594 45103594 single base substitution C G upstream_gene_variant BRCA-EU 1 45103932 45103932 single base substitution G A downstream_gene_variant BRCA-EU 1 45103932 45103932 single base substitution G A intron_variant BRCA-EU 1 45103932 45103932 single base substitution G A upstream_gene_variant BRCA-EU 1 45104057 45104057 single base substitution A G downstream_gene_variant BRCA-EU 1 45104057 45104057 single base substitution A G exon_variant BRCA-EU 1 45104057 45104057 single base substitution A G intron_variant BRCA-EU 1 45104057 45104057 single base substitution A G upstream_gene_variant BRCA-EU 1 45105226 45105226 single base substitution T C downstream_gene_variant BRCA-EU 1 45105226 45105226 single base substitution T C intron_variant BRCA-EU 1 45105226 45105226 single base substitution T C upstream_gene_variant BRCA-EU 1 45106275 45106275 single base substitution G A downstream_gene_variant BRCA-EU 1 45106275 45106275 single base substitution G A intron_variant BRCA-EU 1 45106275 45106275 single base substitution G A upstream_gene_variant BRCA-EU 1 45108764 45108764 single base substitution G T intron_variant BRCA-EU 1 45108764 45108764 single base substitution G T upstream_gene_variant BRCA-EU 1 45109673 45109673 single base substitution G C exon_variant BRCA-EU 1 45109673 45109673 single base substitution G C intron_variant BRCA-EU 1 45109673 45109673 single base substitution G C upstream_gene_variant BRCA-EU 1 45111208 45111208 single base substitution G C downstream_gene_variant BRCA-EU 1 45111208 45111208 single base substitution G C intron_variant BRCA-EU 1 45111208 45111208 single base substitution G C upstream_gene_variant BRCA-EU 1 45112323 45112323 single base substitution G A downstream_gene_variant BRCA-EU 1 45112323 45112323 single base substitution G A intron_variant BRCA-EU 1 45112323 45112323 single base substitution G A upstream_gene_variant BRCA-EU 1 45114162 45114162 single base substitution C A downstream_gene_variant BRCA-EU 1 45114162 45114162 single base substitution C A exon_variant BRCA-EU 1 45114162 45114162 single base substitution C A intron_variant BRCA-EU 1 45114669 45114669 single base substitution G A downstream_gene_variant BRCA-EU 1 45114669 45114669 single base substitution G A exon_variant BRCA-EU 1 45114669 45114669 single base substitution G A intron_variant BRCA-EU 1 45114891 45114891 single base substitution G C downstream_gene_variant BRCA-EU 1 45114891 45114891 single base substitution G C exon_variant BRCA-EU 1 45114891 45114891 single base substitution G C intron_variant BRCA-EU 1 45114999 45114999 single base substitution G A downstream_gene_variant BRCA-EU 1 45114999 45114999 single base substitution G A exon_variant BRCA-EU 1 45114999 45114999 single base substitution G A intron_variant BRCA-EU 1 45116198 45116198 single base substitution C G downstream_gene_variant BRCA-EU 1 45116198 45116198 single base substitution C G exon_variant BRCA-EU 1 45116198 45116198 single base substitution C G intron_variant BRCA-EU 1 45120251 45120251 single base substitution G A downstream_gene_variant BRCA-EU 1 45120658 45120658 single base substitution C T downstream_gene_variant BRCA-EU 1 45121812 45121812 single base substitution G T downstream_gene_variant BRCA-FR 1 44868129 44868129 single base substitution G A upstream_gene_variant BRCA-FR 1 44869909 44869909 single base substitution G T upstream_gene_variant BRCA-FR 1 44874529 44874529 single base substitution G A exon_variant BRCA-FR 1 44874529 44874529 single base substitution G A intron_variant BRCA-FR 1 44874529 44874529 single base substitution G A upstream_gene_variant BRCA-FR 1 44876926 44876926 single base substitution G A intron_variant BRCA-FR 1 44876926 44876926 single base substitution G A upstream_gene_variant BRCA-FR 1 44886852 44886852 single base substitution C T downstream_gene_variant BRCA-FR 1 44886852 44886852 single base substitution C T intron_variant BRCA-FR 1 44886852 44886852 single base substitution C T upstream_gene_variant BRCA-FR 1 44904976 44904976 single base substitution A G intron_variant BRCA-FR 1 44911569 44911569 single base substitution C T intron_variant BRCA-FR 1 44915601 44915601 single base substitution G C intron_variant BRCA-FR 1 44915668 44915668 single base substitution G A intron_variant BRCA-FR 1 44921048 44921048 single base substitution G A intron_variant BRCA-FR 1 44929450 44929450 single base substitution G T intron_variant BRCA-FR 1 44934022 44934022 single base substitution T A intron_variant BRCA-FR 1 44946918 44946918 single base substitution G T intron_variant BRCA-FR 1 44947312 44947312 single base substitution T A intron_variant BRCA-FR 1 44963848 44963848 single base substitution C A intron_variant BRCA-FR 1 44963849 44963849 single base substitution C T intron_variant BRCA-FR 1 44968382 44968382 single base substitution C G intron_variant BRCA-FR 1 44971810 44971810 single base substitution C G intron_variant BRCA-FR 1 44972053 44972053 single base substitution C G intron_variant BRCA-FR 1 44977736 44977736 single base substitution G T intron_variant BRCA-FR 1 44981284 44981284 single base substitution G C intron_variant BRCA-FR 1 44983680 44983680 single base substitution G A intron_variant BRCA-FR 1 44995713 44995713 single base substitution G C intron_variant BRCA-FR 1 44997786 44997786 single base substitution C A intron_variant BRCA-FR 1 45000124 45000124 single base substitution C A intron_variant BRCA-FR 1 45003704 45003704 single base substitution A G intron_variant BRCA-FR 1 45016597 45016597 single base substitution G C intron_variant BRCA-FR 1 45020363 45020363 single base substitution C G intron_variant BRCA-FR 1 45020781 45020781 single base substitution C T intron_variant BRCA-FR 1 45027364 45027364 single base substitution G T intron_variant BRCA-FR 1 45035034 45035034 single base substitution A T intron_variant BRCA-FR 1 45061531 45061531 single base substitution G A intron_variant BRCA-FR 1 45076172 45076172 single base substitution G A intron_variant BRCA-FR 1 45076172 45076172 single base substitution G A upstream_gene_variant BRCA-FR 1 45076374 45076374 single base substitution G C intron_variant BRCA-FR 1 45076374 45076374 single base substitution G C upstream_gene_variant BRCA-FR 1 45094188 45094188 single base substitution C T downstream_gene_variant BRCA-FR 1 45094188 45094188 single base substitution C T intron_variant BRCA-FR 1 45094188 45094188 single base substitution C T upstream_gene_variant BRCA-FR 1 45094854 45094854 single base substitution G A downstream_gene_variant BRCA-FR 1 45094854 45094854 single base substitution G A intron_variant BRCA-FR 1 45094854 45094854 single base substitution G A upstream_gene_variant BRCA-FR 1 45101399 45101399 single base substitution G A intron_variant BRCA-FR 1 45101399 45101399 single base substitution G A upstream_gene_variant BRCA-UK 1 44886397 44886397 single base substitution C G downstream_gene_variant BRCA-UK 1 44886397 44886397 single base substitution C G intron_variant BRCA-UK 1 44886397 44886397 single base substitution C G upstream_gene_variant BRCA-UK 1 44906095 44906095 single base substitution G A intron_variant BRCA-UK 1 44972029 44972029 single base substitution T C intron_variant BRCA-UK 1 44980500 44980500 single base substitution A T intron_variant BRCA-UK 1 44981580 44981580 single base substitution C A intron_variant BRCA-UK 1 45008734 45008734 single base substitution G C intron_variant BRCA-UK 1 45017357 45017357 single base substitution A G intron_variant BRCA-UK 1 45029066 45029066 single base substitution G C intron_variant BRCA-UK 1 45029195 45029195 single base substitution G A intron_variant BRCA-UK 1 45062634 45062634 single base substitution G A intron_variant BRCA-UK 1 45077203 45077203 single base substitution C T intron_variant BRCA-UK 1 45077203 45077203 single base substitution C T upstream_gene_variant BRCA-UK 1 45103445 45103445 single base substitution G A downstream_gene_variant BRCA-UK 1 45103445 45103445 single base substitution G A intron_variant BRCA-UK 1 45103445 45103445 single base substitution G A upstream_gene_variant BRCA-UK 1 45109348 45109348 single base substitution C T exon_variant BRCA-UK 1 45109348 45109348 single base substitution C T intron_variant BRCA-UK 1 45109348 45109348 single base substitution C T upstream_gene_variant BRCA-US 1 44877815 44877815 single base substitution C T downstream_gene_variant BRCA-US 1 44877815 44877815 single base substitution C T missense_variant L16F 46C>T BRCA-US 1 44877815 44877815 single base substitution C T upstream_gene_variant BRCA-US 1 44877905 44877905 single base substitution C T downstream_gene_variant BRCA-US 1 44877905 44877905 single base substitution C T stop_gained R46* 136C>T BRCA-US 1 44877905 44877905 single base substitution C T upstream_gene_variant BRCA-US 1 44878056 44878056 single base substitution A C downstream_gene_variant BRCA-US 1 44878056 44878056 single base substitution A C missense_variant H96P 287A>C BRCA-US 1 44878056 44878056 single base substitution A C upstream_gene_variant BRCA-US 1 45092077 45092077 single base substitution A G exon_variant BRCA-US 1 45092077 45092077 single base substitution A G intron_variant BRCA-US 1 45092077 45092077 single base substitution A G splice_region_variant BRCA-US 1 45110399 45110399 single base substitution G C exon_variant BRCA-US 1 45110399 45110399 single base substitution G C missense_variant E102Q 304G>C BRCA-US 1 45110399 45110399 single base substitution G C missense_variant E128Q 382G>C BRCA-US 1 45110399 45110399 single base substitution G C missense_variant E173Q 517G>C BRCA-US 1 45110399 45110399 single base substitution G C missense_variant E386Q 1156G>C BRCA-US 1 45110399 45110399 single base substitution G C upstream_gene_variant BRCA-US 1 45119965 45119965 single base substitution C T downstream_gene_variant BRCA-US 1 45120323 45120323 single base substitution C T downstream_gene_variant BTCA-JP 1 44877875 44877875 single base substitution C T downstream_gene_variant BTCA-JP 1 44877875 44877875 single base substitution C T missense_variant R36C 106C>T BTCA-JP 1 44877875 44877875 single base substitution C T upstream_gene_variant BTCA-JP 1 45097886 45097886 single base substitution T G intron_variant BTCA-JP 1 45097886 45097886 single base substitution T G splice_donor_variant BTCA-JP 1 45097886 45097886 single base substitution T G upstream_gene_variant BTCA-JP 1 45102073 45102073 insertion of <=200bp - G 3_prime_UTR_variant BTCA-JP 1 45102073 45102073 insertion of <=200bp - G downstream_gene_variant BTCA-JP 1 45102073 45102073 insertion of <=200bp - G intron_variant BTCA-JP 1 45102073 45102073 insertion of <=200bp - G upstream_gene_variant BTCA-JP 1 45115634 45115634 single base substitution G T downstream_gene_variant BTCA-JP 1 45115634 45115634 single base substitution G T exon_variant BTCA-JP 1 45115634 45115634 single base substitution G T splice_region_variant BTCA-JP 1 45120202 45120202 single base substitution T C downstream_gene_variant BTCA-JP 1 45120574 45120574 single base substitution C T downstream_gene_variant CESC-US 1 44877992 44877992 single base substitution C T downstream_gene_variant CESC-US 1 44877992 44877992 single base substitution C T missense_variant R75W 223C>T CESC-US 1 44877992 44877992 single base substitution C T upstream_gene_variant CESC-US 1 44878382 44878382 single base substitution C G downstream_gene_variant CESC-US 1 44878382 44878382 single base substitution C G exon_variant CESC-US 1 44878382 44878382 single base substitution C G missense_variant R205G 613C>G CESC-US 1 45115222 45115222 single base substitution G C downstream_gene_variant CESC-US 1 45115222 45115222 single base substitution G C exon_variant CESC-US 1 45115222 45115222 single base substitution G C intron_variant CESC-US 1 45115372 45115372 single base substitution G C downstream_gene_variant CESC-US 1 45115372 45115372 single base substitution G C exon_variant CESC-US 1 45115372 45115372 single base substitution G C synonymous_variant L211L 633G>C CESC-US 1 45115372 45115372 single base substitution G C synonymous_variant L237L 711G>C CESC-US 1 45115372 45115372 single base substitution G C synonymous_variant L282L 846G>C CESC-US 1 45115372 45115372 single base substitution G C synonymous_variant L495L 1485G>C CESC-US 1 45115398 45115398 single base substitution G A downstream_gene_variant CESC-US 1 45115398 45115398 single base substitution G A exon_variant CESC-US 1 45115398 45115398 single base substitution G A missense_variant R220Q 659G>A CESC-US 1 45115398 45115398 single base substitution G A missense_variant R246Q 737G>A CESC-US 1 45115398 45115398 single base substitution G A missense_variant R291Q 872G>A CESC-US 1 45115398 45115398 single base substitution G A missense_variant R504Q 1511G>A CESC-US 1 45120220 45120220 single base substitution G C downstream_gene_variant CLLE-ES 1 44901354 44901354 single base substitution C T intron_variant CLLE-ES 1 44934837 44934837 single base substitution A C intron_variant CLLE-ES 1 44951512 44951512 single base substitution T C intron_variant CLLE-ES 1 44965098 44965098 single base substitution A C intron_variant CLLE-ES 1 44970180 44970180 single base substitution T G intron_variant CLLE-ES 1 44974944 44974944 single base substitution C T intron_variant CLLE-ES 1 44983488 44983488 single base substitution C T intron_variant CLLE-ES 1 44986473 44986473 single base substitution C T intron_variant CLLE-ES 1 44989978 44989978 single base substitution G T intron_variant CLLE-ES 1 44991192 44991192 single base substitution C T intron_variant CLLE-ES 1 44995042 44995042 single base substitution C A intron_variant CLLE-ES 1 45070837 45070837 single base substitution G A intron_variant CLLE-ES 1 45088490 45088490 single base substitution C T intron_variant CLLE-ES 1 45088490 45088490 single base substitution C T upstream_gene_variant CLLE-ES 1 45111357 45111357 single base substitution C T downstream_gene_variant CLLE-ES 1 45111357 45111357 single base substitution C T intron_variant CLLE-ES 1 45111357 45111357 single base substitution C T upstream_gene_variant COAD-US 1 44877905 44877905 single base substitution C T downstream_gene_variant COAD-US 1 44877905 44877905 single base substitution C T stop_gained R46* 136C>T COAD-US 1 44877905 44877905 single base substitution C T upstream_gene_variant COAD-US 1 44878179 44878179 single base substitution C T downstream_gene_variant COAD-US 1 44878179 44878179 single base substitution C T missense_variant T137M 410C>T COAD-US 1 44878179 44878179 single base substitution C T upstream_gene_variant COAD-US 1 44878204 44878204 single base substitution C A downstream_gene_variant COAD-US 1 44878204 44878204 single base substitution C A stop_gained C145* 435C>A COAD-US 1 44878204 44878204 single base substitution C A upstream_gene_variant COAD-US 1 44878382 44878382 single base substitution C T downstream_gene_variant COAD-US 1 44878382 44878382 single base substitution C T exon_variant COAD-US 1 44878382 44878382 single base substitution C T missense_variant R205W 613C>T COAD-US 1 45101237 45101237 single base substitution C T exon_variant COAD-US 1 45101237 45101237 single base substitution C T missense_variant R324W 970C>T COAD-US 1 45101237 45101237 single base substitution C T missense_variant R40W 118C>T COAD-US 1 45101237 45101237 single base substitution C T missense_variant R46W 136C>T COAD-US 1 45101237 45101237 single base substitution C T missense_variant R85W 253C>T COAD-US 1 45101237 45101237 single base substitution C T upstream_gene_variant COAD-US 1 45120356 45120356 single base substitution C T downstream_gene_variant COAD-US 1 45120449 45120449 single base substitution C T downstream_gene_variant COCA-CN 1 44871069 44871069 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 1 44871069 44871069 single base substitution C T upstream_gene_variant COCA-CN 1 44871078 44871078 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 1 44871078 44871078 single base substitution C T upstream_gene_variant COCA-CN 1 44878292 44878292 single base substitution G A downstream_gene_variant COCA-CN 1 44878292 44878292 single base substitution G A missense_variant G175S 523G>A COCA-CN 1 44878292 44878292 single base substitution G A upstream_gene_variant COCA-CN 1 44878368 44878368 single base substitution C A downstream_gene_variant COCA-CN 1 44878368 44878368 single base substitution C A missense_variant S200Y 599C>A COCA-CN 1 44878368 44878368 single base substitution C A upstream_gene_variant COCA-CN 1 45038749 45038749 single base substitution T G intron_variant COCA-CN 1 45066952 45066952 single base substitution A T intron_variant COCA-CN 1 45088517 45088517 single base substitution C T intron_variant COCA-CN 1 45088517 45088517 single base substitution C T upstream_gene_variant COCA-CN 1 45092187 45092187 single base substitution G A exon_variant COCA-CN 1 45092187 45092187 single base substitution G A intron_variant COCA-CN 1 45101634 45101634 single base substitution C T intron_variant COCA-CN 1 45101634 45101634 single base substitution C T upstream_gene_variant COCA-CN 1 45116471 45116471 single base substitution G A 3_prime_UTR_variant COCA-CN 1 45116471 45116471 single base substitution G A downstream_gene_variant COCA-CN 1 45116471 45116471 single base substitution G A exon_variant COCA-CN 1 45120696 45120696 single base substitution C T downstream_gene_variant EOPC-DE 1 44876220 44876220 single base substitution C G intron_variant EOPC-DE 1 44876220 44876220 single base substitution C G upstream_gene_variant EOPC-DE 1 44927852 44927852 single base substitution G A intron_variant EOPC-DE 1 44947334 44947334 single base substitution T C intron_variant EOPC-DE 1 44980305 44980305 single base substitution T C intron_variant EOPC-DE 1 44996362 44996362 single base substitution C T intron_variant EOPC-DE 1 45069515 45069515 single base substitution G A intron_variant EOPC-DE 1 45120509 45120509 single base substitution C T downstream_gene_variant ESAD-UK 1 44866947 44866947 single base substitution T C upstream_gene_variant ESAD-UK 1 44874191 44874191 insertion of <=200bp - T intron_variant ESAD-UK 1 44874191 44874191 insertion of <=200bp - T upstream_gene_variant ESAD-UK 1 44877063 44877063 insertion of <=200bp - TG intron_variant ESAD-UK 1 44877063 44877063 insertion of <=200bp - TG upstream_gene_variant ESAD-UK 1 44879467 44879467 deletion of <=200bp T - downstream_gene_variant ESAD-UK 1 44879467 44879467 deletion of <=200bp T - intron_variant ESAD-UK 1 44879467 44879467 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 44879467 44879467 insertion of <=200bp - T intron_variant ESAD-UK 1 44879473 44879473 single base substitution T C downstream_gene_variant ESAD-UK 1 44879473 44879473 single base substitution T C intron_variant ESAD-UK 1 44882201 44882201 single base substitution G T downstream_gene_variant ESAD-UK 1 44882201 44882201 single base substitution G T intron_variant ESAD-UK 1 44883920 44883920 single base substitution G A intron_variant ESAD-UK 1 44884026 44884026 single base substitution G A intron_variant ESAD-UK 1 44888038 44888038 single base substitution C T downstream_gene_variant ESAD-UK 1 44888038 44888038 single base substitution C T intron_variant ESAD-UK 1 44888038 44888038 single base substitution C T upstream_gene_variant ESAD-UK 1 44888535 44888535 single base substitution G A downstream_gene_variant ESAD-UK 1 44888535 44888535 single base substitution G A intron_variant ESAD-UK 1 44888535 44888535 single base substitution G A upstream_gene_variant ESAD-UK 1 44889219 44889219 single base substitution C A downstream_gene_variant ESAD-UK 1 44889219 44889219 single base substitution C A intron_variant ESAD-UK 1 44889219 44889219 single base substitution C A upstream_gene_variant ESAD-UK 1 44889431 44889431 single base substitution C G downstream_gene_variant ESAD-UK 1 44889431 44889431 single base substitution C G intron_variant ESAD-UK 1 44889431 44889431 single base substitution C G upstream_gene_variant ESAD-UK 1 44889629 44889629 single base substitution G C downstream_gene_variant ESAD-UK 1 44889629 44889629 single base substitution G C intron_variant ESAD-UK 1 44889629 44889629 single base substitution G C upstream_gene_variant ESAD-UK 1 44890731 44890731 single base substitution G T intron_variant ESAD-UK 1 44891803 44891803 single base substitution C A intron_variant ESAD-UK 1 44891903 44891903 single base substitution C T intron_variant ESAD-UK 1 44892050 44892050 single base substitution G A intron_variant ESAD-UK 1 44892504 44892504 single base substitution A C intron_variant ESAD-UK 1 44895638 44895638 single base substitution G T intron_variant ESAD-UK 1 44895853 44895853 single base substitution C T intron_variant ESAD-UK 1 44903724 44903724 single base substitution C A intron_variant ESAD-UK 1 44904364 44904364 single base substitution G T intron_variant ESAD-UK 1 44904480 44904480 single base substitution T C intron_variant ESAD-UK 1 44905568 44905568 single base substitution G A intron_variant ESAD-UK 1 44906343 44906343 single base substitution T C intron_variant ESAD-UK 1 44912119 44912119 single base substitution C T intron_variant ESAD-UK 1 44912492 44912492 single base substitution G T intron_variant ESAD-UK 1 44912559 44912559 single base substitution A T intron_variant ESAD-UK 1 44912845 44912845 single base substitution C T intron_variant ESAD-UK 1 44913029 44913029 single base substitution C T intron_variant ESAD-UK 1 44914326 44914326 single base substitution C G intron_variant ESAD-UK 1 44915979 44915979 single base substitution T G intron_variant ESAD-UK 1 44918213 44918213 single base substitution G A intron_variant ESAD-UK 1 44918332 44918332 single base substitution G A intron_variant ESAD-UK 1 44921031 44921031 single base substitution C T intron_variant ESAD-UK 1 44921035 44921035 single base substitution G A intron_variant ESAD-UK 1 44921984 44921984 single base substitution C A intron_variant ESAD-UK 1 44924635 44924635 single base substitution C T intron_variant ESAD-UK 1 44925361 44925361 single base substitution A G intron_variant ESAD-UK 1 44925969 44925969 single base substitution C G intron_variant ESAD-UK 1 44926153 44926153 insertion of <=200bp - A intron_variant ESAD-UK 1 44927808 44927808 single base substitution T C intron_variant ESAD-UK 1 44927896 44927896 single base substitution C T intron_variant ESAD-UK 1 44929884 44929884 single base substitution A G intron_variant ESAD-UK 1 44930340 44930340 single base substitution C T intron_variant ESAD-UK 1 44931018 44931018 single base substitution T C intron_variant ESAD-UK 1 44931704 44931704 single base substitution A G intron_variant ESAD-UK 1 44933103 44933103 single base substitution G A intron_variant ESAD-UK 1 44933163 44933163 single base substitution G A intron_variant ESAD-UK 1 44934294 44934294 single base substitution G T intron_variant ESAD-UK 1 44934469 44934469 single base substitution A T intron_variant ESAD-UK 1 44937387 44937387 single base substitution C T intron_variant ESAD-UK 1 44939831 44939831 single base substitution G C intron_variant ESAD-UK 1 44940701 44940701 single base substitution G A intron_variant ESAD-UK 1 44941851 44941851 single base substitution G A intron_variant ESAD-UK 1 44944092 44944092 single base substitution C A intron_variant ESAD-UK 1 44945642 44945642 single base substitution A C intron_variant ESAD-UK 1 44946786 44946786 single base substitution G A intron_variant ESAD-UK 1 44947226 44947226 deletion of <=200bp G - intron_variant ESAD-UK 1 44947360 44947360 single base substitution A G intron_variant ESAD-UK 1 44949121 44949121 single base substitution C T intron_variant ESAD-UK 1 44950761 44950761 single base substitution T A intron_variant ESAD-UK 1 44951502 44951502 single base substitution G A intron_variant ESAD-UK 1 44951885 44951885 single base substitution C A intron_variant ESAD-UK 1 44954550 44954550 single base substitution C T intron_variant ESAD-UK 1 44954568 44954568 single base substitution A C intron_variant ESAD-UK 1 44954918 44954918 single base substitution G T intron_variant ESAD-UK 1 44955297 44955297 single base substitution C T intron_variant ESAD-UK 1 44956070 44956070 single base substitution G A intron_variant ESAD-UK 1 44956358 44956358 deletion of <=200bp A - intron_variant ESAD-UK 1 44956376 44956376 single base substitution A C intron_variant ESAD-UK 1 44956981 44956981 single base substitution T C intron_variant ESAD-UK 1 44957052 44957052 deletion of <=200bp A - intron_variant ESAD-UK 1 44959198 44959198 single base substitution A G intron_variant ESAD-UK 1 44959997 44959997 single base substitution T G intron_variant ESAD-UK 1 44964610 44964610 single base substitution C T intron_variant ESAD-UK 1 44965013 44965013 single base substitution A C intron_variant ESAD-UK 1 44965182 44965182 single base substitution C A intron_variant ESAD-UK 1 44969120 44969120 single base substitution A T intron_variant ESAD-UK 1 44971151 44971151 single base substitution A C intron_variant ESAD-UK 1 44973308 44973308 single base substitution G A intron_variant ESAD-UK 1 44973312 44973312 single base substitution G T intron_variant ESAD-UK 1 44973538 44973538 deletion of <=200bp C - intron_variant ESAD-UK 1 44974045 44974045 single base substitution G A intron_variant ESAD-UK 1 44974188 44974188 single base substitution G T intron_variant ESAD-UK 1 44974402 44974402 single base substitution T G intron_variant ESAD-UK 1 44976416 44976416 single base substitution C T intron_variant ESAD-UK 1 44977235 44977235 single base substitution T C intron_variant ESAD-UK 1 44978450 44978450 single base substitution T C intron_variant ESAD-UK 1 44979133 44979133 single base substitution C A intron_variant ESAD-UK 1 44979831 44979831 single base substitution C G intron_variant ESAD-UK 1 44982916 44982916 single base substitution T C intron_variant ESAD-UK 1 44983488 44983488 single base substitution C T intron_variant ESAD-UK 1 44985965 44985965 single base substitution T A intron_variant ESAD-UK 1 44987549 44987556 deletion of <=200bp TGAATGAA - intron_variant ESAD-UK 1 44989218 44989218 single base substitution C T intron_variant ESAD-UK 1 44991360 44991360 single base substitution G C intron_variant ESAD-UK 1 44994042 44994042 single base substitution G A intron_variant ESAD-UK 1 44994685 44994685 single base substitution C A intron_variant ESAD-UK 1 44995776 44995776 deletion of <=200bp T - intron_variant ESAD-UK 1 44996699 44996699 deletion of <=200bp T - intron_variant ESAD-UK 1 44999872 44999872 insertion of <=200bp - A intron_variant ESAD-UK 1 44999872 44999872 single base substitution G C intron_variant ESAD-UK 1 45001256 45001256 single base substitution T A intron_variant ESAD-UK 1 45001968 45001968 single base substitution A G intron_variant ESAD-UK 1 45004678 45004678 single base substitution A C intron_variant ESAD-UK 1 45005173 45005173 single base substitution C A intron_variant ESAD-UK 1 45007707 45007707 single base substitution T C intron_variant ESAD-UK 1 45009849 45009849 single base substitution G A intron_variant ESAD-UK 1 45011722 45011722 single base substitution A C intron_variant ESAD-UK 1 45012759 45012759 single base substitution G C intron_variant ESAD-UK 1 45013793 45013793 single base substitution C T intron_variant ESAD-UK 1 45014444 45014444 single base substitution G A intron_variant ESAD-UK 1 45017015 45017015 single base substitution G A intron_variant ESAD-UK 1 45018016 45018016 insertion of <=200bp - A intron_variant ESAD-UK 1 45020766 45020766 single base substitution G A intron_variant ESAD-UK 1 45022527 45022527 single base substitution G A intron_variant ESAD-UK 1 45022953 45022953 single base substitution G A intron_variant ESAD-UK 1 45024021 45024021 single base substitution G T intron_variant ESAD-UK 1 45025203 45025203 single base substitution C T intron_variant ESAD-UK 1 45026628 45026628 single base substitution G A intron_variant ESAD-UK 1 45030653 45030653 single base substitution T G intron_variant ESAD-UK 1 45030872 45030872 single base substitution G T intron_variant ESAD-UK 1 45035510 45035510 single base substitution T G intron_variant ESAD-UK 1 45035804 45035804 single base substitution G A intron_variant ESAD-UK 1 45038507 45038507 single base substitution G A intron_variant ESAD-UK 1 45039567 45039567 single base substitution C A intron_variant ESAD-UK 1 45041287 45041287 single base substitution G C intron_variant ESAD-UK 1 45041636 45041636 single base substitution T G intron_variant ESAD-UK 1 45044414 45044414 single base substitution C T intron_variant ESAD-UK 1 45048807 45048807 single base substitution C T intron_variant ESAD-UK 1 45048888 45048888 insertion of <=200bp - AT intron_variant ESAD-UK 1 45048888 45048889 deletion of <=200bp AT - intron_variant ESAD-UK 1 45050358 45050358 insertion of <=200bp - T intron_variant ESAD-UK 1 45050431 45050431 single base substitution C T intron_variant ESAD-UK 1 45050749 45050749 single base substitution G C intron_variant ESAD-UK 1 45051917 45051917 single base substitution G C intron_variant ESAD-UK 1 45054693 45054693 single base substitution G T intron_variant ESAD-UK 1 45056366 45056366 single base substitution A G intron_variant ESAD-UK 1 45056375 45056375 insertion of <=200bp - G intron_variant ESAD-UK 1 45058406 45058406 single base substitution C T intron_variant ESAD-UK 1 45058699 45058699 single base substitution T C intron_variant ESAD-UK 1 45060694 45060694 single base substitution T G intron_variant ESAD-UK 1 45062454 45062454 single base substitution T C intron_variant ESAD-UK 1 45063938 45063938 single base substitution G A intron_variant ESAD-UK 1 45064687 45064687 single base substitution T C intron_variant ESAD-UK 1 45067380 45067380 single base substitution G A intron_variant ESAD-UK 1 45070828 45070828 single base substitution G A intron_variant ESAD-UK 1 45073771 45073771 deletion of <=200bp T - intron_variant ESAD-UK 1 45073849 45073849 single base substitution G A intron_variant ESAD-UK 1 45074890 45074890 single base substitution G T intron_variant ESAD-UK 1 45075601 45075601 single base substitution G T intron_variant ESAD-UK 1 45075601 45075601 single base substitution G T upstream_gene_variant ESAD-UK 1 45075602 45075602 single base substitution C T intron_variant ESAD-UK 1 45075602 45075602 single base substitution C T upstream_gene_variant ESAD-UK 1 45075845 45075845 single base substitution G A intron_variant ESAD-UK 1 45075845 45075845 single base substitution G A upstream_gene_variant ESAD-UK 1 45075902 45075902 single base substitution C T intron_variant ESAD-UK 1 45075902 45075902 single base substitution C T upstream_gene_variant ESAD-UK 1 45077031 45077031 single base substitution A G intron_variant ESAD-UK 1 45077031 45077031 single base substitution A G upstream_gene_variant ESAD-UK 1 45079189 45079189 single base substitution G T intron_variant ESAD-UK 1 45079189 45079189 single base substitution G T upstream_gene_variant ESAD-UK 1 45080180 45080180 single base substitution G A intron_variant ESAD-UK 1 45080714 45080714 single base substitution G A intron_variant ESAD-UK 1 45080791 45080791 single base substitution G A intron_variant ESAD-UK 1 45081140 45081140 single base substitution G A intron_variant ESAD-UK 1 45083256 45083256 single base substitution C G intron_variant ESAD-UK 1 45083291 45083291 single base substitution C T intron_variant ESAD-UK 1 45085414 45085414 single base substitution C T intron_variant ESAD-UK 1 45085545 45085545 deletion of <=200bp G - intron_variant ESAD-UK 1 45086657 45086657 single base substitution G A intron_variant ESAD-UK 1 45086691 45086691 single base substitution G T intron_variant ESAD-UK 1 45089404 45089404 single base substitution G A intron_variant ESAD-UK 1 45089404 45089404 single base substitution G A upstream_gene_variant ESAD-UK 1 45090437 45090437 single base substitution C A intron_variant ESAD-UK 1 45090437 45090437 single base substitution C A upstream_gene_variant ESAD-UK 1 45091002 45091002 single base substitution C A intron_variant ESAD-UK 1 45091002 45091002 single base substitution C A upstream_gene_variant ESAD-UK 1 45094705 45094705 single base substitution G A downstream_gene_variant ESAD-UK 1 45094705 45094705 single base substitution G A intron_variant ESAD-UK 1 45094705 45094705 single base substitution G A upstream_gene_variant ESAD-UK 1 45095614 45095614 single base substitution G T downstream_gene_variant ESAD-UK 1 45095614 45095614 single base substitution G T intron_variant ESAD-UK 1 45095614 45095614 single base substitution G T upstream_gene_variant ESAD-UK 1 45096311 45096311 single base substitution G A downstream_gene_variant ESAD-UK 1 45096311 45096311 single base substitution G A intron_variant ESAD-UK 1 45096311 45096311 single base substitution G A upstream_gene_variant ESAD-UK 1 45096673 45096673 single base substitution C T downstream_gene_variant ESAD-UK 1 45096673 45096673 single base substitution C T intron_variant ESAD-UK 1 45096673 45096673 single base substitution C T upstream_gene_variant ESAD-UK 1 45098867 45098867 single base substitution C A intron_variant ESAD-UK 1 45102543 45102543 single base substitution C T downstream_gene_variant ESAD-UK 1 45102543 45102543 single base substitution C T intron_variant ESAD-UK 1 45102543 45102543 single base substitution C T upstream_gene_variant ESAD-UK 1 45103396 45103396 single base substitution G A downstream_gene_variant ESAD-UK 1 45103396 45103396 single base substitution G A intron_variant ESAD-UK 1 45103396 45103396 single base substitution G A upstream_gene_variant ESAD-UK 1 45105618 45105618 single base substitution C T downstream_gene_variant ESAD-UK 1 45105618 45105618 single base substitution C T intron_variant ESAD-UK 1 45105618 45105618 single base substitution C T upstream_gene_variant ESAD-UK 1 45106499 45106499 single base substitution A C downstream_gene_variant ESAD-UK 1 45106499 45106499 single base substitution A C intron_variant ESAD-UK 1 45106499 45106499 single base substitution A C upstream_gene_variant ESAD-UK 1 45106609 45106609 single base substitution G A downstream_gene_variant ESAD-UK 1 45106609 45106609 single base substitution G A intron_variant ESAD-UK 1 45106609 45106609 single base substitution G A upstream_gene_variant ESAD-UK 1 45107140 45107140 single base substitution G C downstream_gene_variant ESAD-UK 1 45107140 45107140 single base substitution G C intron_variant ESAD-UK 1 45107140 45107140 single base substitution G C upstream_gene_variant ESAD-UK 1 45111455 45111455 single base substitution C T downstream_gene_variant ESAD-UK 1 45111455 45111455 single base substitution C T intron_variant ESAD-UK 1 45111455 45111455 single base substitution C T upstream_gene_variant ESAD-UK 1 45111600 45111600 single base substitution T G downstream_gene_variant ESAD-UK 1 45111600 45111600 single base substitution T G intron_variant ESAD-UK 1 45111600 45111600 single base substitution T G upstream_gene_variant ESAD-UK 1 45112013 45112013 single base substitution C T downstream_gene_variant ESAD-UK 1 45112013 45112013 single base substitution C T intron_variant ESAD-UK 1 45112013 45112013 single base substitution C T upstream_gene_variant ESAD-UK 1 45116090 45116090 single base substitution G A downstream_gene_variant ESAD-UK 1 45116090 45116090 single base substitution G A exon_variant ESAD-UK 1 45116090 45116090 single base substitution G A intron_variant ESAD-UK 1 45117683 45117683 single base substitution G T downstream_gene_variant ESAD-UK 1 45117743 45117743 single base substitution G A downstream_gene_variant ESAD-UK 1 45119828 45119828 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 45120239 45120239 single base substitution G A downstream_gene_variant KIRC-US 1 44878049 44878049 single base substitution C A downstream_gene_variant KIRC-US 1 44878049 44878049 single base substitution C A missense_variant H94N 280C>A KIRC-US 1 44878049 44878049 single base substitution C A upstream_gene_variant KIRC-US 1 45098019 45098019 single base substitution T C exon_variant KIRC-US 1 45098019 45098019 single base substitution T C missense_variant F20S 59T>C KIRC-US 1 45098019 45098019 single base substitution T C missense_variant F26S 77T>C KIRC-US 1 45098019 45098019 single base substitution T C missense_variant F304S 911T>C KIRC-US 1 45098019 45098019 single base substitution T C missense_variant F65S 194T>C KIRC-US 1 45098019 45098019 single base substitution T C upstream_gene_variant KIRP-US 1 45120714 45120714 single base substitution G T downstream_gene_variant LAML-KR 1 44878509 44878509 single base substitution C G downstream_gene_variant LAML-KR 1 44878509 44878509 single base substitution C G intron_variant LAML-KR 1 44881178 44881178 single base substitution C T downstream_gene_variant LAML-KR 1 44881178 44881178 single base substitution C T intron_variant LAML-KR 1 44985802 44985802 single base substitution A T intron_variant LAML-KR 1 44994538 44994538 single base substitution A G intron_variant LAML-KR 1 45078692 45078692 single base substitution A T intron_variant LAML-KR 1 45078692 45078692 single base substitution A T upstream_gene_variant LAML-KR 1 45078742 45078742 single base substitution G A intron_variant LAML-KR 1 45078742 45078742 single base substitution G A upstream_gene_variant LAML-KR 1 45078970 45078970 single base substitution G A intron_variant LAML-KR 1 45078970 45078970 single base substitution G A upstream_gene_variant LAML-KR 1 45079046 45079046 single base substitution G A intron_variant LAML-KR 1 45079046 45079046 single base substitution G A upstream_gene_variant LAML-KR 1 45079061 45079061 single base substitution T C intron_variant LAML-KR 1 45079061 45079061 single base substitution T C upstream_gene_variant LAML-KR 1 45115640 45115640 single base substitution A T downstream_gene_variant LAML-KR 1 45115640 45115640 single base substitution A T exon_variant LAML-KR 1 45115640 45115640 single base substitution A T intron_variant LGG-US 1 45110396 45110397 deletion of <=200bp AA - exon_variant LGG-US 1 45110396 45110397 deletion of <=200bp AA - frameshift_variant K101 LGG-US 1 45110396 45110397 deletion of <=200bp AA - frameshift_variant K127 LGG-US 1 45110396 45110397 deletion of <=200bp AA - frameshift_variant K172 LGG-US 1 45110396 45110397 deletion of <=200bp AA - frameshift_variant K385 LGG-US 1 45110396 45110397 deletion of <=200bp AA - upstream_gene_variant LICA-CN 1 44877831 44877831 single base substitution C T downstream_gene_variant LICA-CN 1 44877831 44877831 single base substitution C T missense_variant A21V 62C>T LICA-CN 1 44877831 44877831 single base substitution C T upstream_gene_variant LICA-FR 1 44874830 44874830 single base substitution A G intron_variant LICA-FR 1 44874830 44874830 single base substitution A G upstream_gene_variant LICA-FR 1 44880750 44880750 single base substitution G A downstream_gene_variant LICA-FR 1 44880750 44880750 single base substitution G A intron_variant LICA-FR 1 44890132 44890132 single base substitution A G downstream_gene_variant LICA-FR 1 44890132 44890132 single base substitution A G intron_variant LICA-FR 1 44894105 44894105 single base substitution A G intron_variant LICA-FR 1 44927088 44927088 single base substitution C T intron_variant LICA-FR 1 44940132 44940132 single base substitution A G intron_variant LICA-FR 1 44948776 44948776 single base substitution T A intron_variant LICA-FR 1 44957182 44957182 single base substitution T C intron_variant LICA-FR 1 44966465 44966465 insertion of <=200bp - AG intron_variant LICA-FR 1 44977589 44977589 insertion of <=200bp - GTGTGT intron_variant LICA-FR 1 44985801 44985801 insertion of <=200bp - GA intron_variant LICA-FR 1 45027747 45027748 deletion of <=200bp AC - intron_variant LICA-FR 1 45031219 45031219 single base substitution A G intron_variant LICA-FR 1 45044531 45044531 single base substitution C A intron_variant LICA-FR 1 45059594 45059594 single base substitution T C intron_variant LICA-FR 1 45063638 45063639 deletion of <=200bp CT - intron_variant LICA-FR 1 45078920 45078920 single base substitution T A intron_variant LICA-FR 1 45078920 45078920 single base substitution T A upstream_gene_variant LICA-FR 1 45086585 45086585 deletion of <=200bp T - intron_variant LICA-FR 1 45119252 45119252 single base substitution C A downstream_gene_variant LICA-FR 1 45120629 45120629 single base substitution G A downstream_gene_variant LIHC-US 1 45111114 45111114 single base substitution A T downstream_gene_variant LIHC-US 1 45111114 45111114 single base substitution A T exon_variant LIHC-US 1 45111114 45111114 single base substitution A T stop_gained K183* 547A>T LIHC-US 1 45111114 45111114 single base substitution A T stop_gained K209* 625A>T LIHC-US 1 45111114 45111114 single base substitution A T stop_gained K254* 760A>T LIHC-US 1 45111114 45111114 single base substitution A T stop_gained K467* 1399A>T LIHC-US 1 45111114 45111114 single base substitution A T upstream_gene_variant LIHC-US 1 45120780 45120780 single base substitution C A downstream_gene_variant LINC-JP 1 44874331 44874331 single base substitution A T intron_variant LINC-JP 1 44874331 44874331 single base substitution A T upstream_gene_variant LINC-JP 1 44878318 44878318 single base substitution G A downstream_gene_variant LINC-JP 1 44878318 44878318 single base substitution G A synonymous_variant G183G 549G>A LINC-JP 1 44878318 44878318 single base substitution G A upstream_gene_variant LINC-JP 1 44883679 44883679 single base substitution G C intron_variant LINC-JP 1 44898611 44898611 single base substitution A T intron_variant LINC-JP 1 44898665 44898665 single base substitution G A intron_variant LINC-JP 1 44899745 44899745 single base substitution T C intron_variant LINC-JP 1 44909631 44909631 single base substitution C T intron_variant LINC-JP 1 44914267 44914267 single base substitution G C intron_variant LINC-JP 1 44921113 44921113 single base substitution T C intron_variant LINC-JP 1 44933295 44933295 single base substitution T G intron_variant LINC-JP 1 44960925 44960925 insertion of <=200bp - A intron_variant LINC-JP 1 44961282 44961282 single base substitution A G intron_variant LINC-JP 1 44963622 44963622 single base substitution G A intron_variant LINC-JP 1 44970178 44970178 insertion of <=200bp - G intron_variant LINC-JP 1 44972451 44972451 single base substitution T A intron_variant LINC-JP 1 44977317 44977317 single base substitution G A intron_variant LINC-JP 1 44984431 44984431 single base substitution C T intron_variant LINC-JP 1 45014820 45014820 single base substitution G T intron_variant LINC-JP 1 45015757 45015757 single base substitution G A intron_variant LINC-JP 1 45017753 45017753 single base substitution A G intron_variant LINC-JP 1 45022912 45022912 single base substitution G A intron_variant LINC-JP 1 45029943 45029943 single base substitution C T intron_variant LINC-JP 1 45036688 45036688 single base substitution G A intron_variant LINC-JP 1 45047793 45047793 single base substitution A G intron_variant LINC-JP 1 45059672 45059672 single base substitution G C intron_variant LINC-JP 1 45065530 45065530 single base substitution C T intron_variant LINC-JP 1 45075334 45075334 single base substitution A G intron_variant LINC-JP 1 45075334 45075334 single base substitution A G upstream_gene_variant LINC-JP 1 45076358 45076358 single base substitution G A intron_variant LINC-JP 1 45076358 45076358 single base substitution G A upstream_gene_variant LINC-JP 1 45076857 45076857 single base substitution G A intron_variant LINC-JP 1 45076857 45076857 single base substitution G A upstream_gene_variant LINC-JP 1 45101376 45101376 single base substitution C T intron_variant LINC-JP 1 45101376 45101376 single base substitution C T upstream_gene_variant LINC-JP 1 45101817 45101817 single base substitution T C 3_prime_UTR_variant LINC-JP 1 45101817 45101817 single base substitution T C exon_variant LINC-JP 1 45101817 45101817 single base substitution T C missense_variant L112P 335T>C LINC-JP 1 45101817 45101817 single base substitution T C missense_variant L118P 353T>C LINC-JP 1 45101817 45101817 single base substitution T C missense_variant L157P 470T>C LINC-JP 1 45101817 45101817 single base substitution T C missense_variant L370P 1109T>C LINC-JP 1 45101817 45101817 single base substitution T C missense_variant L86P 257T>C LINC-JP 1 45101817 45101817 single base substitution T C upstream_gene_variant LINC-JP 1 45107878 45107878 single base substitution G A intron_variant LINC-JP 1 45107878 45107878 single base substitution G A upstream_gene_variant LINC-JP 1 45115246 45115246 single base substitution T G downstream_gene_variant LINC-JP 1 45115246 45115246 single base substitution T G exon_variant LINC-JP 1 45115246 45115246 single base substitution T G intron_variant LINC-JP 1 45116421 45116421 single base substitution G T downstream_gene_variant LINC-JP 1 45116421 45116421 single base substitution G T exon_variant LINC-JP 1 45116421 45116421 single base substitution G T stop_gained G346* 1036G>T LINC-JP 1 45116421 45116421 single base substitution G T stop_gained G559* 1675G>T LINC-JP 1 45116596 45116596 single base substitution T A 3_prime_UTR_variant LINC-JP 1 45116596 45116596 single base substitution T A downstream_gene_variant LINC-JP 1 45116596 45116596 single base substitution T A exon_variant LINC-JP 1 45117340 45117340 single base substitution T G 3_prime_UTR_variant LINC-JP 1 45117340 45117340 single base substitution T G downstream_gene_variant LINC-JP 1 45117340 45117340 single base substitution T G exon_variant LIRI-JP 1 44866081 44866081 single base substitution C T upstream_gene_variant LIRI-JP 1 44866996 44866996 single base substitution A G upstream_gene_variant LIRI-JP 1 44869950 44869950 single base substitution C T upstream_gene_variant LIRI-JP 1 44874325 44874325 single base substitution A G intron_variant LIRI-JP 1 44874325 44874325 single base substitution A G upstream_gene_variant LIRI-JP 1 44874634 44874634 single base substitution T C intron_variant LIRI-JP 1 44874634 44874634 single base substitution T C upstream_gene_variant LIRI-JP 1 44875785 44875785 single base substitution A G intron_variant LIRI-JP 1 44875785 44875785 single base substitution A G upstream_gene_variant LIRI-JP 1 44877768 44877768 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 1 44877768 44877768 single base substitution C T exon_variant LIRI-JP 1 44877768 44877768 single base substitution C T upstream_gene_variant LIRI-JP 1 44880939 44880939 single base substitution T C downstream_gene_variant LIRI-JP 1 44880939 44880939 single base substitution T C intron_variant LIRI-JP 1 44881200 44881203 deletion of <=200bp TATA - downstream_gene_variant LIRI-JP 1 44881200 44881203 deletion of <=200bp TATA - intron_variant LIRI-JP 1 44881214 44881217 deletion of <=200bp TATT - downstream_gene_variant LIRI-JP 1 44881214 44881217 deletion of <=200bp TATT - intron_variant LIRI-JP 1 44884072 44884072 single base substitution C A intron_variant LIRI-JP 1 44884275 44884275 single base substitution C A intron_variant LIRI-JP 1 44885245 44885245 single base substitution T A exon_variant LIRI-JP 1 44885245 44885245 single base substitution T A intron_variant LIRI-JP 1 44885245 44885245 single base substitution T A upstream_gene_variant LIRI-JP 1 44885836 44885836 single base substitution A G downstream_gene_variant LIRI-JP 1 44885836 44885836 single base substitution A G intron_variant LIRI-JP 1 44885836 44885836 single base substitution A G upstream_gene_variant LIRI-JP 1 44887096 44887096 single base substitution T C downstream_gene_variant LIRI-JP 1 44887096 44887096 single base substitution T C intron_variant LIRI-JP 1 44887096 44887096 single base substitution T C upstream_gene_variant LIRI-JP 1 44887113 44887113 single base substitution T C downstream_gene_variant LIRI-JP 1 44887113 44887113 single base substitution T C intron_variant LIRI-JP 1 44887113 44887113 single base substitution T C upstream_gene_variant LIRI-JP 1 44887574 44887574 single base substitution C T downstream_gene_variant LIRI-JP 1 44887574 44887574 single base substitution C T intron_variant LIRI-JP 1 44887574 44887574 single base substitution C T upstream_gene_variant LIRI-JP 1 44888866 44888866 single base substitution C T downstream_gene_variant LIRI-JP 1 44888866 44888866 single base substitution C T intron_variant LIRI-JP 1 44888866 44888866 single base substitution C T upstream_gene_variant LIRI-JP 1 44889880 44889880 single base substitution G C downstream_gene_variant LIRI-JP 1 44889880 44889880 single base substitution G C intron_variant LIRI-JP 1 44890104 44890104 single base substitution G C downstream_gene_variant LIRI-JP 1 44890104 44890104 single base substitution G C intron_variant LIRI-JP 1 44891721 44891721 single base substitution G A intron_variant LIRI-JP 1 44892937 44892937 single base substitution G C intron_variant LIRI-JP 1 44894299 44894299 single base substitution A G intron_variant LIRI-JP 1 44894936 44894936 single base substitution A G intron_variant LIRI-JP 1 44899360 44899360 single base substitution T C intron_variant LIRI-JP 1 44900109 44900109 single base substitution G A intron_variant LIRI-JP 1 44900858 44900858 single base substitution C A intron_variant LIRI-JP 1 44905405 44905405 single base substitution A G intron_variant LIRI-JP 1 44910163 44910163 single base substitution A G intron_variant LIRI-JP 1 44912187 44912187 single base substitution C T intron_variant LIRI-JP 1 44913089 44913089 single base substitution C G intron_variant LIRI-JP 1 44913344 44913344 single base substitution G T intron_variant LIRI-JP 1 44917853 44917853 single base substitution G A intron_variant LIRI-JP 1 44919463 44919463 single base substitution T C intron_variant LIRI-JP 1 44920128 44920128 single base substitution T A intron_variant LIRI-JP 1 44921053 44921053 single base substitution A C intron_variant LIRI-JP 1 44922852 44922852 single base substitution C T intron_variant LIRI-JP 1 44923015 44923015 single base substitution G A intron_variant LIRI-JP 1 44927536 44927536 single base substitution A T intron_variant LIRI-JP 1 44930072 44930072 single base substitution C T intron_variant LIRI-JP 1 44930128 44930128 single base substitution C T intron_variant LIRI-JP 1 44930582 44930582 single base substitution C A intron_variant LIRI-JP 1 44930768 44930768 single base substitution A C intron_variant LIRI-JP 1 44931979 44931979 single base substitution C T intron_variant LIRI-JP 1 44932127 44932127 single base substitution G C intron_variant LIRI-JP 1 44933005 44933005 single base substitution T C intron_variant LIRI-JP 1 44933028 44933028 single base substitution C T intron_variant LIRI-JP 1 44935166 44935166 single base substitution C T intron_variant LIRI-JP 1 44935571 44935571 single base substitution G A intron_variant LIRI-JP 1 44937271 44937271 single base substitution G A intron_variant LIRI-JP 1 44938551 44938551 single base substitution C T intron_variant LIRI-JP 1 44938765 44938765 single base substitution G A intron_variant LIRI-JP 1 44939234 44939234 single base substitution T A intron_variant LIRI-JP 1 44941072 44941072 single base substitution G A intron_variant LIRI-JP 1 44942576 44942576 single base substitution G T intron_variant LIRI-JP 1 44943329 44943329 single base substitution C T intron_variant LIRI-JP 1 44944383 44944383 single base substitution G C intron_variant LIRI-JP 1 44945350 44945350 single base substitution G T intron_variant LIRI-JP 1 44946197 44946197 single base substitution G C intron_variant LIRI-JP 1 44946260 44946260 single base substitution G A intron_variant LIRI-JP 1 44948996 44948996 single base substitution C A intron_variant LIRI-JP 1 44950588 44950588 single base substitution G A intron_variant LIRI-JP 1 44950868 44950868 single base substitution G A intron_variant LIRI-JP 1 44952496 44952496 single base substitution G A intron_variant LIRI-JP 1 44953544 44953544 single base substitution T C intron_variant LIRI-JP 1 44954368 44954368 single base substitution A G intron_variant LIRI-JP 1 44954556 44954556 single base substitution C A intron_variant LIRI-JP 1 44955410 44955410 single base substitution T C intron_variant LIRI-JP 1 44958158 44958158 single base substitution C A intron_variant LIRI-JP 1 44961181 44961181 single base substitution A G intron_variant LIRI-JP 1 44962969 44962969 single base substitution T C intron_variant LIRI-JP 1 44964210 44964210 single base substitution A G intron_variant LIRI-JP 1 44970149 44970149 single base substitution G A intron_variant LIRI-JP 1 44971420 44971420 single base substitution C T intron_variant LIRI-JP 1 44973475 44973475 single base substitution G T intron_variant LIRI-JP 1 44973646 44973646 single base substitution C A intron_variant LIRI-JP 1 44974015 44974015 single base substitution G T intron_variant LIRI-JP 1 44974413 44974413 single base substitution A G intron_variant LIRI-JP 1 44976537 44976537 single base substitution A G intron_variant LIRI-JP 1 44976558 44976558 single base substitution A G intron_variant LIRI-JP 1 44977074 44977074 single base substitution G T intron_variant LIRI-JP 1 44978388 44978388 single base substitution G A intron_variant LIRI-JP 1 44980571 44980571 single base substitution C A intron_variant LIRI-JP 1 44981728 44981728 single base substitution G C intron_variant LIRI-JP 1 44982762 44982762 single base substitution T C intron_variant LIRI-JP 1 44983910 44983910 single base substitution C A intron_variant LIRI-JP 1 44984242 44984242 single base substitution C T intron_variant LIRI-JP 1 44984946 44984946 single base substitution A G intron_variant LIRI-JP 1 44987581 44987581 single base substitution G T intron_variant LIRI-JP 1 44988417 44988417 single base substitution G T intron_variant LIRI-JP 1 44989322 44989355 deletion of <=200bp ACACCATGCTTTGAAAGAACCTGCTTCGCATGGT - intron_variant LIRI-JP 1 44990887 44990887 single base substitution A T intron_variant LIRI-JP 1 44998417 44998417 single base substitution T C intron_variant LIRI-JP 1 44998757 44998757 single base substitution T C intron_variant LIRI-JP 1 45001115 45001115 single base substitution G C intron_variant LIRI-JP 1 45001627 45001627 single base substitution G T intron_variant LIRI-JP 1 45002090 45002090 single base substitution G T intron_variant LIRI-JP 1 45005189 45005189 single base substitution A G intron_variant LIRI-JP 1 45006320 45006320 single base substitution G A intron_variant LIRI-JP 1 45008017 45008017 single base substitution G C intron_variant LIRI-JP 1 45010277 45010277 single base substitution T C intron_variant LIRI-JP 1 45010600 45010600 single base substitution T C intron_variant LIRI-JP 1 45012410 45012410 single base substitution C A intron_variant LIRI-JP 1 45015716 45015716 single base substitution G A intron_variant LIRI-JP 1 45019489 45019489 single base substitution G T intron_variant LIRI-JP 1 45020385 45020385 single base substitution C T intron_variant LIRI-JP 1 45023386 45023386 single base substitution G A intron_variant LIRI-JP 1 45024357 45024357 single base substitution A G intron_variant LIRI-JP 1 45024716 45024716 single base substitution T G intron_variant LIRI-JP 1 45026179 45026179 single base substitution C T intron_variant LIRI-JP 1 45029412 45029412 single base substitution A G intron_variant LIRI-JP 1 45029794 45029794 single base substitution G A intron_variant LIRI-JP 1 45030565 45030565 single base substitution C G intron_variant LIRI-JP 1 45031644 45031644 single base substitution C T intron_variant LIRI-JP 1 45032708 45032708 single base substitution G A intron_variant LIRI-JP 1 45033449 45033449 single base substitution A C intron_variant LIRI-JP 1 45034458 45034458 single base substitution A G intron_variant LIRI-JP 1 45037877 45037877 single base substitution T G intron_variant LIRI-JP 1 45041572 45041572 single base substitution A T intron_variant LIRI-JP 1 45043718 45043718 single base substitution C T intron_variant LIRI-JP 1 45043755 45043755 single base substitution G A intron_variant LIRI-JP 1 45044292 45044292 single base substitution T C intron_variant LIRI-JP 1 45044592 45044592 single base substitution C T intron_variant LIRI-JP 1 45046601 45046601 insertion of <=200bp - C intron_variant LIRI-JP 1 45052722 45052722 single base substitution A G intron_variant LIRI-JP 1 45053973 45053973 single base substitution G A intron_variant LIRI-JP 1 45054612 45054612 deletion of <=200bp C - intron_variant LIRI-JP 1 45058375 45058375 single base substitution T A intron_variant LIRI-JP 1 45058827 45058827 single base substitution C T intron_variant LIRI-JP 1 45059308 45059308 single base substitution C G intron_variant LIRI-JP 1 45063964 45063964 single base substitution G A intron_variant LIRI-JP 1 45064331 45064331 single base substitution C T intron_variant LIRI-JP 1 45064878 45064878 single base substitution T C intron_variant LIRI-JP 1 45066059 45066059 single base substitution G A intron_variant LIRI-JP 1 45068270 45068270 single base substitution A G intron_variant LIRI-JP 1 45068972 45068972 single base substitution C A intron_variant LIRI-JP 1 45069226 45069226 single base substitution T C intron_variant LIRI-JP 1 45069683 45069683 single base substitution G A intron_variant LIRI-JP 1 45070475 45070475 single base substitution C T intron_variant LIRI-JP 1 45071891 45071891 single base substitution C T intron_variant LIRI-JP 1 45080061 45080061 single base substitution C T intron_variant LIRI-JP 1 45080624 45080624 single base substitution T C intron_variant LIRI-JP 1 45083928 45083928 single base substitution G A intron_variant LIRI-JP 1 45083977 45083977 single base substitution T C intron_variant LIRI-JP 1 45084687 45084687 single base substitution G A intron_variant LIRI-JP 1 45085470 45085470 single base substitution C T intron_variant LIRI-JP 1 45085801 45085801 single base substitution A G intron_variant LIRI-JP 1 45088077 45088077 single base substitution G T intron_variant LIRI-JP 1 45088077 45088077 single base substitution G T upstream_gene_variant LIRI-JP 1 45088876 45088876 single base substitution T C intron_variant LIRI-JP 1 45088876 45088876 single base substitution T C upstream_gene_variant LIRI-JP 1 45092298 45092298 single base substitution C T exon_variant LIRI-JP 1 45092298 45092298 single base substitution C T intron_variant LIRI-JP 1 45093137 45093137 deletion of <=200bp G - downstream_gene_variant LIRI-JP 1 45093137 45093137 deletion of <=200bp G - intron_variant LIRI-JP 1 45093137 45093137 deletion of <=200bp G - upstream_gene_variant LIRI-JP 1 45094116 45094116 single base substitution G A downstream_gene_variant LIRI-JP 1 45094116 45094116 single base substitution G A intron_variant LIRI-JP 1 45094116 45094116 single base substitution G A upstream_gene_variant LIRI-JP 1 45094374 45094374 single base substitution T C downstream_gene_variant LIRI-JP 1 45094374 45094374 single base substitution T C intron_variant LIRI-JP 1 45094374 45094374 single base substitution T C upstream_gene_variant LIRI-JP 1 45094714 45094714 single base substitution C T downstream_gene_variant LIRI-JP 1 45094714 45094714 single base substitution C T intron_variant LIRI-JP 1 45094714 45094714 single base substitution C T upstream_gene_variant LIRI-JP 1 45096334 45096334 single base substitution G A downstream_gene_variant LIRI-JP 1 45096334 45096334 single base substitution G A intron_variant LIRI-JP 1 45096334 45096334 single base substitution G A upstream_gene_variant LIRI-JP 1 45096427 45096427 single base substitution T G downstream_gene_variant LIRI-JP 1 45096427 45096427 single base substitution T G intron_variant LIRI-JP 1 45096427 45096427 single base substitution T G upstream_gene_variant LIRI-JP 1 45097348 45097348 single base substitution C T downstream_gene_variant LIRI-JP 1 45097348 45097348 single base substitution C T intron_variant LIRI-JP 1 45097348 45097348 single base substitution C T upstream_gene_variant LIRI-JP 1 45100640 45100640 single base substitution C T intron_variant LIRI-JP 1 45100640 45100640 single base substitution C T upstream_gene_variant LIRI-JP 1 45101759 45101759 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 45101759 45101759 single base substitution A C exon_variant LIRI-JP 1 45101759 45101759 single base substitution A C missense_variant N138H 412A>C LIRI-JP 1 45101759 45101759 single base substitution A C missense_variant N351H 1051A>C LIRI-JP 1 45101759 45101759 single base substitution A C missense_variant N67H 199A>C LIRI-JP 1 45101759 45101759 single base substitution A C missense_variant N93H 277A>C LIRI-JP 1 45101759 45101759 single base substitution A C missense_variant N99H 295A>C LIRI-JP 1 45101759 45101759 single base substitution A C upstream_gene_variant LIRI-JP 1 45102855 45102855 single base substitution A G downstream_gene_variant LIRI-JP 1 45102855 45102855 single base substitution A G intron_variant LIRI-JP 1 45102855 45102855 single base substitution A G upstream_gene_variant LIRI-JP 1 45103955 45103955 single base substitution C A downstream_gene_variant LIRI-JP 1 45103955 45103955 single base substitution C A intron_variant LIRI-JP 1 45103955 45103955 single base substitution C A upstream_gene_variant LIRI-JP 1 45104695 45104695 single base substitution A C downstream_gene_variant LIRI-JP 1 45104695 45104695 single base substitution A C intron_variant LIRI-JP 1 45104695 45104695 single base substitution A C upstream_gene_variant LIRI-JP 1 45104965 45104965 single base substitution A G downstream_gene_variant LIRI-JP 1 45104965 45104965 single base substitution A G intron_variant LIRI-JP 1 45104965 45104965 single base substitution A G upstream_gene_variant LIRI-JP 1 45107293 45107293 single base substitution A G intron_variant LIRI-JP 1 45107293 45107293 single base substitution A G upstream_gene_variant LIRI-JP 1 45107573 45107573 single base substitution T G intron_variant LIRI-JP 1 45107573 45107573 single base substitution T G upstream_gene_variant LIRI-JP 1 45109644 45109644 single base substitution C A exon_variant LIRI-JP 1 45109644 45109644 single base substitution C A intron_variant LIRI-JP 1 45109644 45109644 single base substitution C A upstream_gene_variant LIRI-JP 1 45110639 45110639 single base substitution G T intron_variant LIRI-JP 1 45110639 45110639 single base substitution G T upstream_gene_variant LIRI-JP 1 45111325 45111325 single base substitution G A downstream_gene_variant LIRI-JP 1 45111325 45111325 single base substitution G A intron_variant LIRI-JP 1 45111325 45111325 single base substitution G A upstream_gene_variant LIRI-JP 1 45114064 45114064 single base substitution A G downstream_gene_variant LIRI-JP 1 45114064 45114064 single base substitution A G exon_variant LIRI-JP 1 45114064 45114064 single base substitution A G intron_variant LIRI-JP 1 45114223 45114223 single base substitution T G downstream_gene_variant LIRI-JP 1 45114223 45114223 single base substitution T G exon_variant LIRI-JP 1 45114223 45114223 single base substitution T G intron_variant LIRI-JP 1 45115432 45115432 single base substitution C T downstream_gene_variant LIRI-JP 1 45115432 45115432 single base substitution C T exon_variant LIRI-JP 1 45115432 45115432 single base substitution C T synonymous_variant L231L 693C>T LIRI-JP 1 45115432 45115432 single base substitution C T synonymous_variant L257L 771C>T LIRI-JP 1 45115432 45115432 single base substitution C T synonymous_variant L302L 906C>T LIRI-JP 1 45115432 45115432 single base substitution C T synonymous_variant L515L 1545C>T LIRI-JP 1 45117911 45117911 single base substitution A C downstream_gene_variant LIRI-JP 1 45118855 45118855 single base substitution C T downstream_gene_variant LUSC-KR 1 44869739 44869739 single base substitution G T upstream_gene_variant LUSC-KR 1 44881178 44881178 single base substitution C T downstream_gene_variant LUSC-KR 1 44881178 44881178 single base substitution C T intron_variant LUSC-KR 1 44882506 44882506 single base substitution T A downstream_gene_variant LUSC-KR 1 44882506 44882506 single base substitution T A intron_variant LUSC-KR 1 44886473 44886473 single base substitution G T downstream_gene_variant LUSC-KR 1 44886473 44886473 single base substitution G T intron_variant LUSC-KR 1 44886473 44886473 single base substitution G T upstream_gene_variant LUSC-KR 1 44888447 44888447 single base substitution G T downstream_gene_variant LUSC-KR 1 44888447 44888447 single base substitution G T intron_variant LUSC-KR 1 44888447 44888447 single base substitution G T upstream_gene_variant LUSC-KR 1 44891615 44891615 single base substitution A T intron_variant LUSC-KR 1 44905813 44905813 single base substitution C G intron_variant LUSC-KR 1 44906028 44906028 single base substitution T A intron_variant LUSC-KR 1 44906594 44906594 single base substitution A G intron_variant LUSC-KR 1 44908053 44908053 single base substitution A T intron_variant LUSC-KR 1 44917016 44917016 single base substitution G C intron_variant LUSC-KR 1 44917473 44917473 single base substitution G T intron_variant LUSC-KR 1 44920653 44920653 single base substitution G A intron_variant LUSC-KR 1 44921647 44921647 single base substitution G A intron_variant LUSC-KR 1 44923035 44923035 single base substitution G A intron_variant LUSC-KR 1 44927618 44927618 single base substitution G T intron_variant LUSC-KR 1 44932563 44932563 single base substitution G A intron_variant LUSC-KR 1 44932732 44932732 single base substitution A T intron_variant LUSC-KR 1 44935576 44935576 single base substitution G T intron_variant LUSC-KR 1 44937432 44937432 single base substitution G C intron_variant LUSC-KR 1 44947357 44947357 single base substitution G A intron_variant LUSC-KR 1 44953056 44953056 single base substitution T A intron_variant LUSC-KR 1 44954964 44954964 single base substitution T C intron_variant LUSC-KR 1 44962409 44962409 single base substitution C T intron_variant LUSC-KR 1 44964411 44964411 single base substitution C G intron_variant LUSC-KR 1 45008419 45008419 single base substitution C G intron_variant LUSC-KR 1 45008972 45008972 single base substitution G T intron_variant LUSC-KR 1 45012234 45012234 single base substitution A G intron_variant LUSC-KR 1 45018277 45018277 single base substitution C G intron_variant LUSC-KR 1 45018311 45018311 single base substitution C A intron_variant LUSC-KR 1 45030702 45030702 single base substitution T C intron_variant LUSC-KR 1 45030703 45030703 single base substitution T C intron_variant LUSC-KR 1 45030704 45030704 single base substitution A T intron_variant LUSC-KR 1 45034825 45034825 single base substitution A G intron_variant LUSC-KR 1 45036517 45036517 single base substitution G T intron_variant LUSC-KR 1 45041514 45041514 single base substitution G A intron_variant LUSC-KR 1 45041951 45041951 single base substitution T C intron_variant LUSC-KR 1 45053957 45053957 single base substitution C A intron_variant LUSC-KR 1 45058006 45058006 single base substitution G A intron_variant LUSC-KR 1 45060517 45060517 single base substitution G T intron_variant LUSC-KR 1 45066567 45066567 single base substitution C A intron_variant LUSC-KR 1 45066741 45066741 single base substitution C T intron_variant LUSC-KR 1 45067380 45067380 single base substitution G A intron_variant LUSC-KR 1 45067586 45067586 single base substitution G A intron_variant LUSC-KR 1 45067604 45067604 single base substitution G T intron_variant LUSC-KR 1 45069502 45069502 single base substitution G A intron_variant LUSC-KR 1 45071509 45071509 single base substitution G T intron_variant LUSC-KR 1 45072163 45072163 single base substitution G A intron_variant LUSC-KR 1 45073544 45073544 single base substitution T C intron_variant LUSC-KR 1 45074396 45074396 single base substitution C A intron_variant LUSC-KR 1 45077117 45077117 single base substitution G T intron_variant LUSC-KR 1 45077117 45077117 single base substitution G T upstream_gene_variant LUSC-KR 1 45078742 45078742 single base substitution G A intron_variant LUSC-KR 1 45078742 45078742 single base substitution G A upstream_gene_variant LUSC-KR 1 45078986 45078986 single base substitution C T intron_variant LUSC-KR 1 45078986 45078986 single base substitution C T upstream_gene_variant LUSC-KR 1 45079046 45079046 single base substitution G A intron_variant LUSC-KR 1 45079046 45079046 single base substitution G A upstream_gene_variant LUSC-KR 1 45079061 45079061 single base substitution T C intron_variant LUSC-KR 1 45079061 45079061 single base substitution T C upstream_gene_variant LUSC-KR 1 45098337 45098337 single base substitution A G exon_variant LUSC-KR 1 45098337 45098337 single base substitution A G intron_variant LUSC-KR 1 45106824 45106824 single base substitution C T downstream_gene_variant LUSC-KR 1 45106824 45106824 single base substitution C T intron_variant LUSC-KR 1 45106824 45106824 single base substitution C T upstream_gene_variant LUSC-KR 1 45107318 45107318 single base substitution C G intron_variant LUSC-KR 1 45107318 45107318 single base substitution C G upstream_gene_variant LUSC-KR 1 45116603 45116603 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 45116603 45116603 single base substitution C T downstream_gene_variant LUSC-KR 1 45116603 45116603 single base substitution C T exon_variant LUSC-US 1 44878026 44878026 single base substitution G T downstream_gene_variant LUSC-US 1 44878026 44878026 single base substitution G T missense_variant R86L 257G>T LUSC-US 1 44878026 44878026 single base substitution G T upstream_gene_variant LUSC-US 1 45101781 45101781 single base substitution G T 3_prime_UTR_variant LUSC-US 1 45101781 45101781 single base substitution G T exon_variant LUSC-US 1 45101781 45101781 single base substitution G T missense_variant W100L 299G>T LUSC-US 1 45101781 45101781 single base substitution G T missense_variant W106L 317G>T LUSC-US 1 45101781 45101781 single base substitution G T missense_variant W145L 434G>T LUSC-US 1 45101781 45101781 single base substitution G T missense_variant W358L 1073G>T LUSC-US 1 45101781 45101781 single base substitution G T missense_variant W74L 221G>T LUSC-US 1 45101781 45101781 single base substitution G T upstream_gene_variant LUSC-US 1 45110680 45110680 single base substitution G A exon_variant LUSC-US 1 45110680 45110680 single base substitution G A missense_variant D129N 385G>A LUSC-US 1 45110680 45110680 single base substitution G A missense_variant D155N 463G>A LUSC-US 1 45110680 45110680 single base substitution G A missense_variant D200N 598G>A LUSC-US 1 45110680 45110680 single base substitution G A missense_variant D413N 1237G>A LUSC-US 1 45110680 45110680 single base substitution G A upstream_gene_variant LUSC-US 1 45120240 45120240 single base substitution G A downstream_gene_variant LUSC-US 1 45120367 45120367 single base substitution T A downstream_gene_variant MALY-DE 1 44870873 44870873 insertion of <=200bp - GT 5_prime_UTR_variant MALY-DE 1 44870873 44870873 insertion of <=200bp - GT upstream_gene_variant MALY-DE 1 44883679 44883679 single base substitution G C intron_variant MALY-DE 1 44887896 44887896 single base substitution G A downstream_gene_variant MALY-DE 1 44887896 44887896 single base substitution G A intron_variant MALY-DE 1 44887896 44887896 single base substitution G A upstream_gene_variant MALY-DE 1 44889288 44889288 single base substitution C T downstream_gene_variant MALY-DE 1 44889288 44889288 single base substitution C T intron_variant MALY-DE 1 44889288 44889288 single base substitution C T upstream_gene_variant MALY-DE 1 44892491 44892491 single base substitution A C intron_variant MALY-DE 1 44901594 44901594 deletion of <=200bp A - intron_variant MALY-DE 1 44901613 44901613 deletion of <=200bp A - intron_variant MALY-DE 1 44902755 44902755 single base substitution G A intron_variant MALY-DE 1 44902815 44902815 single base substitution A G intron_variant MALY-DE 1 44905133 44905133 deletion of <=200bp T - intron_variant MALY-DE 1 44905320 44905320 deletion of <=200bp T - intron_variant MALY-DE 1 44907659 44907659 insertion of <=200bp - AGGTCAGGAA intron_variant MALY-DE 1 44916038 44916038 deletion of <=200bp A - intron_variant MALY-DE 1 44917303 44917303 insertion of <=200bp - T intron_variant MALY-DE 1 44920290 44920290 single base substitution T G intron_variant MALY-DE 1 44926595 44926595 single base substitution T C intron_variant MALY-DE 1 44927147 44927147 single base substitution G C intron_variant MALY-DE 1 44932357 44932357 single base substitution A T intron_variant MALY-DE 1 44940663 44940663 deletion of <=200bp T - intron_variant MALY-DE 1 44946128 44946128 single base substitution G A intron_variant MALY-DE 1 44951147 44951147 single base substitution A G intron_variant MALY-DE 1 44971001 44971001 single base substitution C A intron_variant MALY-DE 1 44993265 44993265 deletion of <=200bp T - intron_variant MALY-DE 1 45006029 45006029 deletion of <=200bp A - intron_variant MALY-DE 1 45010772 45010772 single base substitution C T intron_variant MALY-DE 1 45011402 45011402 single base substitution T A intron_variant MALY-DE 1 45018016 45018016 insertion of <=200bp - A intron_variant MALY-DE 1 45028988 45028988 single base substitution G C intron_variant MALY-DE 1 45028989 45028989 single base substitution G T intron_variant MALY-DE 1 45031897 45031897 single base substitution A C intron_variant MALY-DE 1 45041344 45041344 single base substitution G T intron_variant MALY-DE 1 45049060 45049060 single base substitution A G intron_variant MALY-DE 1 45049725 45049725 single base substitution G T intron_variant MALY-DE 1 45055154 45055154 single base substitution C T intron_variant MALY-DE 1 45056375 45056375 insertion of <=200bp - G intron_variant MALY-DE 1 45060402 45060402 single base substitution C A intron_variant MALY-DE 1 45064110 45064110 single base substitution A C intron_variant MALY-DE 1 45068218 45068218 single base substitution G A intron_variant MALY-DE 1 45069025 45069025 single base substitution G A intron_variant MALY-DE 1 45073327 45073327 insertion of <=200bp - T intron_variant MALY-DE 1 45081914 45081914 single base substitution T A intron_variant MALY-DE 1 45082809 45082809 single base substitution C T intron_variant MALY-DE 1 45084597 45084597 single base substitution G T intron_variant MALY-DE 1 45086486 45086486 single base substitution G A intron_variant MALY-DE 1 45094501 45094501 single base substitution C T downstream_gene_variant MALY-DE 1 45094501 45094501 single base substitution C T intron_variant MALY-DE 1 45094501 45094501 single base substitution C T upstream_gene_variant MALY-DE 1 45097567 45097567 single base substitution G T 5_prime_UTR_variant MALY-DE 1 45097567 45097567 single base substitution G T downstream_gene_variant MALY-DE 1 45097567 45097567 single base substitution G T intron_variant MALY-DE 1 45097567 45097567 single base substitution G T upstream_gene_variant MALY-DE 1 45100169 45100169 single base substitution C T intron_variant MALY-DE 1 45100169 45100169 single base substitution C T upstream_gene_variant MALY-DE 1 45101836 45101836 single base substitution T A 3_prime_UTR_variant MALY-DE 1 45101836 45101836 single base substitution T A downstream_gene_variant MALY-DE 1 45101836 45101836 single base substitution T A splice_donor_variant MALY-DE 1 45101836 45101836 single base substitution T A upstream_gene_variant MELA-AU 1 44865890 44865890 single base substitution C A upstream_gene_variant MELA-AU 1 44865964 44865964 single base substitution C T upstream_gene_variant MELA-AU 1 44866024 44866024 single base substitution C T upstream_gene_variant MELA-AU 1 44866342 44866342 single base substitution C T upstream_gene_variant MELA-AU 1 44866398 44866398 single base substitution C T upstream_gene_variant MELA-AU 1 44866481 44866481 single base substitution C T upstream_gene_variant MELA-AU 1 44866528 44866528 single base substitution C A upstream_gene_variant MELA-AU 1 44866599 44866599 single base substitution C T upstream_gene_variant MELA-AU 1 44866918 44866918 single base substitution G A upstream_gene_variant MELA-AU 1 44867167 44867167 single base substitution T G upstream_gene_variant MELA-AU 1 44867205 44867205 single base substitution A G upstream_gene_variant MELA-AU 1 44867870 44867870 single base substitution C T upstream_gene_variant MELA-AU 1 44867924 44867924 single base substitution C T upstream_gene_variant MELA-AU 1 44868445 44868445 single base substitution C T upstream_gene_variant MELA-AU 1 44868508 44868508 single base substitution C T upstream_gene_variant MELA-AU 1 44868523 44868523 single base substitution C T upstream_gene_variant MELA-AU 1 44868582 44868582 single base substitution C T upstream_gene_variant MELA-AU 1 44868811 44868811 single base substitution T A upstream_gene_variant MELA-AU 1 44868841 44868841 single base substitution C T upstream_gene_variant MELA-AU 1 44869032 44869032 single base substitution G A upstream_gene_variant MELA-AU 1 44869078 44869078 single base substitution A G upstream_gene_variant MELA-AU 1 44869108 44869109 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 44869259 44869259 single base substitution G A upstream_gene_variant MELA-AU 1 44869299 44869299 single base substitution G A upstream_gene_variant MELA-AU 1 44869366 44869366 single base substitution C T upstream_gene_variant MELA-AU 1 44869574 44869574 single base substitution C T upstream_gene_variant MELA-AU 1 44869942 44869942 single base substitution C T upstream_gene_variant MELA-AU 1 44870003 44870003 single base substitution G A upstream_gene_variant MELA-AU 1 44870194 44870194 single base substitution A T upstream_gene_variant MELA-AU 1 44870308 44870308 single base substitution A C upstream_gene_variant MELA-AU 1 44870349 44870349 single base substitution C T upstream_gene_variant MELA-AU 1 44870504 44870504 single base substitution G A upstream_gene_variant MELA-AU 1 44873162 44873162 insertion of <=200bp - CCCTCGGC intron_variant MELA-AU 1 44873162 44873162 insertion of <=200bp - CCCTCGGC upstream_gene_variant MELA-AU 1 44873372 44873372 single base substitution C T intron_variant MELA-AU 1 44873372 44873372 single base substitution C T upstream_gene_variant MELA-AU 1 44873694 44873694 single base substitution G A intron_variant MELA-AU 1 44873694 44873694 single base substitution G A upstream_gene_variant MELA-AU 1 44873736 44873736 single base substitution G A intron_variant MELA-AU 1 44873736 44873736 single base substitution G A upstream_gene_variant MELA-AU 1 44873748 44873748 single base substitution G A intron_variant MELA-AU 1 44873748 44873748 single base substitution G A upstream_gene_variant MELA-AU 1 44873828 44873828 single base substitution C T intron_variant MELA-AU 1 44873828 44873828 single base substitution C T upstream_gene_variant MELA-AU 1 44873918 44873918 single base substitution G A intron_variant MELA-AU 1 44873918 44873918 single base substitution G A upstream_gene_variant MELA-AU 1 44874087 44874087 deletion of <=200bp T - intron_variant MELA-AU 1 44874087 44874087 deletion of <=200bp T - upstream_gene_variant MELA-AU 1 44874190 44874190 single base substitution A T intron_variant MELA-AU 1 44874190 44874190 single base substitution A T upstream_gene_variant MELA-AU 1 44874282 44874283 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 1 44874282 44874283 multiple base substitution (>=2bp and <=200bp) GT AA upstream_gene_variant MELA-AU 1 44874298 44874298 single base substitution G A intron_variant MELA-AU 1 44874298 44874298 single base substitution G A upstream_gene_variant MELA-AU 1 44875108 44875108 single base substitution C T intron_variant MELA-AU 1 44875108 44875108 single base substitution C T upstream_gene_variant MELA-AU 1 44875594 44875594 single base substitution C T intron_variant MELA-AU 1 44875594 44875594 single base substitution C T upstream_gene_variant MELA-AU 1 44876021 44876021 single base substitution G A intron_variant MELA-AU 1 44876021 44876021 single base substitution G A upstream_gene_variant MELA-AU 1 44876041 44876041 single base substitution T C intron_variant MELA-AU 1 44876041 44876041 single base substitution T C upstream_gene_variant MELA-AU 1 44876117 44876117 single base substitution G A intron_variant MELA-AU 1 44876117 44876117 single base substitution G A upstream_gene_variant MELA-AU 1 44876256 44876256 single base substitution G A intron_variant MELA-AU 1 44876256 44876256 single base substitution G A splice_region_variant MELA-AU 1 44876256 44876256 single base substitution G A upstream_gene_variant MELA-AU 1 44876714 44876714 single base substitution A C intron_variant MELA-AU 1 44876714 44876714 single base substitution A C upstream_gene_variant MELA-AU 1 44877196 44877196 single base substitution G A intron_variant MELA-AU 1 44877196 44877196 single base substitution G A upstream_gene_variant MELA-AU 1 44877201 44877201 single base substitution G A intron_variant MELA-AU 1 44877201 44877201 single base substitution G A upstream_gene_variant MELA-AU 1 44877335 44877335 single base substitution C T intron_variant MELA-AU 1 44877335 44877335 single base substitution C T upstream_gene_variant MELA-AU 1 44877364 44877364 single base substitution C T intron_variant MELA-AU 1 44877364 44877364 single base substitution C T upstream_gene_variant MELA-AU 1 44877526 44877526 single base substitution C T intron_variant MELA-AU 1 44877526 44877526 single base substitution C T upstream_gene_variant MELA-AU 1 44877576 44877576 single base substitution G A intron_variant MELA-AU 1 44877576 44877576 single base substitution G A upstream_gene_variant MELA-AU 1 44877604 44877604 single base substitution C T intron_variant MELA-AU 1 44877604 44877604 single base substitution C T upstream_gene_variant MELA-AU 1 44877716 44877716 single base substitution C T 5_prime_UTR_variant MELA-AU 1 44877716 44877716 single base substitution C T exon_variant MELA-AU 1 44877716 44877716 single base substitution C T upstream_gene_variant MELA-AU 1 44877725 44877725 single base substitution G A 5_prime_UTR_variant MELA-AU 1 44877725 44877725 single base substitution G A exon_variant MELA-AU 1 44877725 44877725 single base substitution G A upstream_gene_variant MELA-AU 1 44877886 44877886 single base substitution C T downstream_gene_variant MELA-AU 1 44877886 44877886 single base substitution C T synonymous_variant S39S 117C>T MELA-AU 1 44877886 44877886 single base substitution C T upstream_gene_variant MELA-AU 1 44878009 44878009 single base substitution A C downstream_gene_variant MELA-AU 1 44878009 44878009 single base substitution A C synonymous_variant P80P 240A>C MELA-AU 1 44878009 44878009 single base substitution A C upstream_gene_variant MELA-AU 1 44878091 44878091 single base substitution C T downstream_gene_variant MELA-AU 1 44878091 44878091 single base substitution C T missense_variant P108S 322C>T MELA-AU 1 44878091 44878091 single base substitution C T upstream_gene_variant MELA-AU 1 44878358 44878358 single base substitution G A downstream_gene_variant MELA-AU 1 44878358 44878358 single base substitution G A missense_variant E197K 589G>A MELA-AU 1 44878358 44878358 single base substitution G A upstream_gene_variant MELA-AU 1 44878483 44878483 single base substitution C T downstream_gene_variant MELA-AU 1 44878483 44878483 single base substitution C T intron_variant MELA-AU 1 44878642 44878642 single base substitution G A downstream_gene_variant MELA-AU 1 44878642 44878642 single base substitution G A intron_variant MELA-AU 1 44878677 44878677 single base substitution G A downstream_gene_variant MELA-AU 1 44878677 44878677 single base substitution G A intron_variant MELA-AU 1 44878681 44878681 single base substitution C T downstream_gene_variant MELA-AU 1 44878681 44878681 single base substitution C T intron_variant MELA-AU 1 44878783 44878783 single base substitution C T downstream_gene_variant MELA-AU 1 44878783 44878783 single base substitution C T intron_variant MELA-AU 1 44879177 44879177 insertion of <=200bp - A downstream_gene_variant MELA-AU 1 44879177 44879177 insertion of <=200bp - A intron_variant MELA-AU 1 44879300 44879300 single base substitution A C downstream_gene_variant MELA-AU 1 44879300 44879300 single base substitution A C intron_variant MELA-AU 1 44879427 44879427 single base substitution C T downstream_gene_variant MELA-AU 1 44879427 44879427 single base substitution C T intron_variant MELA-AU 1 44879439 44879439 single base substitution C T downstream_gene_variant MELA-AU 1 44879439 44879439 single base substitution C T intron_variant MELA-AU 1 44879542 44879542 single base substitution C T downstream_gene_variant MELA-AU 1 44879542 44879542 single base substitution C T intron_variant MELA-AU 1 44879787 44879787 single base substitution C T downstream_gene_variant MELA-AU 1 44879787 44879787 single base substitution C T intron_variant MELA-AU 1 44879894 44879894 single base substitution T C downstream_gene_variant MELA-AU 1 44879894 44879894 single base substitution T C intron_variant MELA-AU 1 44880096 44880096 single base substitution C T downstream_gene_variant MELA-AU 1 44880096 44880096 single base substitution C T intron_variant MELA-AU 1 44880132 44880132 single base substitution C T downstream_gene_variant MELA-AU 1 44880132 44880132 single base substitution C T intron_variant MELA-AU 1 44880552 44880552 single base substitution C T downstream_gene_variant MELA-AU 1 44880552 44880552 single base substitution C T intron_variant MELA-AU 1 44880719 44880719 single base substitution C T downstream_gene_variant MELA-AU 1 44880719 44880719 single base substitution C T intron_variant MELA-AU 1 44880914 44880914 single base substitution C T downstream_gene_variant MELA-AU 1 44880914 44880914 single base substitution C T intron_variant MELA-AU 1 44881099 44881099 single base substitution G A downstream_gene_variant MELA-AU 1 44881099 44881099 single base substitution G A intron_variant MELA-AU 1 44881140 44881140 single base substitution C T downstream_gene_variant MELA-AU 1 44881140 44881140 single base substitution C T intron_variant MELA-AU 1 44881152 44881152 single base substitution C T downstream_gene_variant MELA-AU 1 44881152 44881152 single base substitution C T intron_variant MELA-AU 1 44881780 44881780 single base substitution G A downstream_gene_variant MELA-AU 1 44881780 44881780 single base substitution G A intron_variant MELA-AU 1 44882363 44882363 single base substitution G A downstream_gene_variant MELA-AU 1 44882363 44882363 single base substitution G A intron_variant MELA-AU 1 44882679 44882679 single base substitution G A downstream_gene_variant MELA-AU 1 44882679 44882679 single base substitution G A intron_variant MELA-AU 1 44883790 44883790 single base substitution G A intron_variant MELA-AU 1 44883974 44883974 single base substitution T C intron_variant MELA-AU 1 44884466 44884466 single base substitution C T intron_variant MELA-AU 1 44884619 44884619 single base substitution G A intron_variant MELA-AU 1 44885063 44885063 single base substitution G A exon_variant MELA-AU 1 44885063 44885063 single base substitution G A intron_variant MELA-AU 1 44885063 44885063 single base substitution G A upstream_gene_variant MELA-AU 1 44885114 44885114 single base substitution G A exon_variant MELA-AU 1 44885114 44885114 single base substitution G A intron_variant MELA-AU 1 44885114 44885114 single base substitution G A upstream_gene_variant MELA-AU 1 44885115 44885115 single base substitution G C exon_variant MELA-AU 1 44885115 44885115 single base substitution G C intron_variant MELA-AU 1 44885115 44885115 single base substitution G C upstream_gene_variant MELA-AU 1 44885195 44885195 single base substitution A T exon_variant MELA-AU 1 44885195 44885195 single base substitution A T intron_variant MELA-AU 1 44885195 44885195 single base substitution A T upstream_gene_variant MELA-AU 1 44885366 44885366 single base substitution C T exon_variant MELA-AU 1 44885366 44885366 single base substitution C T intron_variant MELA-AU 1 44885366 44885366 single base substitution C T upstream_gene_variant MELA-AU 1 44885525 44885525 single base substitution C T exon_variant MELA-AU 1 44885525 44885525 single base substitution C T intron_variant MELA-AU 1 44885525 44885525 single base substitution C T upstream_gene_variant MELA-AU 1 44885905 44885905 single base substitution G A downstream_gene_variant MELA-AU 1 44885905 44885905 single base substitution G A intron_variant MELA-AU 1 44885905 44885905 single base substitution G A upstream_gene_variant MELA-AU 1 44886026 44886026 single base substitution G A downstream_gene_variant MELA-AU 1 44886026 44886026 single base substitution G A intron_variant MELA-AU 1 44886026 44886026 single base substitution G A upstream_gene_variant MELA-AU 1 44886117 44886117 single base substitution T C downstream_gene_variant MELA-AU 1 44886117 44886117 single base substitution T C intron_variant MELA-AU 1 44886117 44886117 single base substitution T C upstream_gene_variant MELA-AU 1 44886809 44886809 single base substitution G A downstream_gene_variant MELA-AU 1 44886809 44886809 single base substitution G A intron_variant MELA-AU 1 44886809 44886809 single base substitution G A upstream_gene_variant MELA-AU 1 44887149 44887149 single base substitution C T downstream_gene_variant MELA-AU 1 44887149 44887149 single base substitution C T intron_variant MELA-AU 1 44887149 44887149 single base substitution C T upstream_gene_variant MELA-AU 1 44887251 44887251 single base substitution G A downstream_gene_variant MELA-AU 1 44887251 44887251 single base substitution G A intron_variant MELA-AU 1 44887251 44887251 single base substitution G A upstream_gene_variant MELA-AU 1 44887283 44887283 single base substitution G A downstream_gene_variant MELA-AU 1 44887283 44887283 single base substitution G A intron_variant MELA-AU 1 44887283 44887283 single base substitution G A upstream_gene_variant MELA-AU 1 44887498 44887498 single base substitution G A downstream_gene_variant MELA-AU 1 44887498 44887498 single base substitution G A intron_variant MELA-AU 1 44887498 44887498 single base substitution G A upstream_gene_variant MELA-AU 1 44887669 44887669 single base substitution G A downstream_gene_variant MELA-AU 1 44887669 44887669 single base substitution G A intron_variant MELA-AU 1 44887669 44887669 single base substitution G A upstream_gene_variant MELA-AU 1 44887794 44887794 single base substitution G A downstream_gene_variant MELA-AU 1 44887794 44887794 single base substitution G A intron_variant MELA-AU 1 44887794 44887794 single base substitution G A upstream_gene_variant MELA-AU 1 44887821 44887821 single base substitution T C downstream_gene_variant MELA-AU 1 44887821 44887821 single base substitution T C intron_variant MELA-AU 1 44887821 44887821 single base substitution T C upstream_gene_variant MELA-AU 1 44887863 44887863 single base substitution A T downstream_gene_variant MELA-AU 1 44887863 44887863 single base substitution A T intron_variant MELA-AU 1 44887863 44887863 single base substitution A T upstream_gene_variant MELA-AU 1 44887897 44887897 single base substitution G A downstream_gene_variant MELA-AU 1 44887897 44887897 single base substitution G A intron_variant MELA-AU 1 44887897 44887897 single base substitution G A upstream_gene_variant MELA-AU 1 44888058 44888058 single base substitution C T downstream_gene_variant MELA-AU 1 44888058 44888058 single base substitution C T intron_variant MELA-AU 1 44888058 44888058 single base substitution C T upstream_gene_variant MELA-AU 1 44888065 44888065 single base substitution G A downstream_gene_variant MELA-AU 1 44888065 44888065 single base substitution G A intron_variant MELA-AU 1 44888065 44888065 single base substitution G A upstream_gene_variant MELA-AU 1 44888119 44888119 single base substitution G A downstream_gene_variant MELA-AU 1 44888119 44888119 single base substitution G A intron_variant MELA-AU 1 44888119 44888119 single base substitution G A upstream_gene_variant MELA-AU 1 44888205 44888205 single base substitution A G downstream_gene_variant MELA-AU 1 44888205 44888205 single base substitution A G intron_variant MELA-AU 1 44888205 44888205 single base substitution A G upstream_gene_variant MELA-AU 1 44888542 44888542 single base substitution G A downstream_gene_variant MELA-AU 1 44888542 44888542 single base substitution G A intron_variant MELA-AU 1 44888542 44888542 single base substitution G A upstream_gene_variant MELA-AU 1 44888678 44888678 single base substitution G A downstream_gene_variant MELA-AU 1 44888678 44888678 single base substitution G A intron_variant MELA-AU 1 44888678 44888678 single base substitution G A upstream_gene_variant MELA-AU 1 44888863 44888863 single base substitution T A downstream_gene_variant MELA-AU 1 44888863 44888863 single base substitution T A intron_variant MELA-AU 1 44888863 44888863 single base substitution T A upstream_gene_variant MELA-AU 1 44889348 44889348 single base substitution C T downstream_gene_variant MELA-AU 1 44889348 44889348 single base substitution C T intron_variant MELA-AU 1 44889348 44889348 single base substitution C T upstream_gene_variant MELA-AU 1 44889363 44889363 single base substitution C T downstream_gene_variant MELA-AU 1 44889363 44889363 single base substitution C T intron_variant MELA-AU 1 44889363 44889363 single base substitution C T upstream_gene_variant MELA-AU 1 44889394 44889394 single base substitution C T downstream_gene_variant MELA-AU 1 44889394 44889394 single base substitution C T intron_variant MELA-AU 1 44889394 44889394 single base substitution C T upstream_gene_variant MELA-AU 1 44889412 44889413 multiple base substitution (>=2bp and <=200bp) CT TA downstream_gene_variant MELA-AU 1 44889412 44889413 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 1 44889412 44889413 multiple base substitution (>=2bp and <=200bp) CT TA upstream_gene_variant MELA-AU 1 44889551 44889551 single base substitution G A downstream_gene_variant MELA-AU 1 44889551 44889551 single base substitution G A intron_variant MELA-AU 1 44889551 44889551 single base substitution G A upstream_gene_variant MELA-AU 1 44889617 44889617 single base substitution C T downstream_gene_variant MELA-AU 1 44889617 44889617 single base substitution C T intron_variant MELA-AU 1 44889617 44889617 single base substitution C T upstream_gene_variant MELA-AU 1 44889620 44889620 single base substitution C T downstream_gene_variant MELA-AU 1 44889620 44889620 single base substitution C T intron_variant MELA-AU 1 44889620 44889620 single base substitution C T upstream_gene_variant MELA-AU 1 44889773 44889773 single base substitution G A 5_prime_UTR_variant MELA-AU 1 44889773 44889773 single base substitution G A downstream_gene_variant MELA-AU 1 44889773 44889773 single base substitution G A intron_variant MELA-AU 1 44889791 44889791 single base substitution C T 5_prime_UTR_variant MELA-AU 1 44889791 44889791 single base substitution C T downstream_gene_variant MELA-AU 1 44889791 44889791 single base substitution C T intron_variant MELA-AU 1 44889835 44889835 single base substitution G A downstream_gene_variant MELA-AU 1 44889835 44889835 single base substitution G A intron_variant MELA-AU 1 44890215 44890215 single base substitution G A downstream_gene_variant MELA-AU 1 44890215 44890215 single base substitution G A intron_variant MELA-AU 1 44890332 44890332 single base substitution C T downstream_gene_variant MELA-AU 1 44890332 44890332 single base substitution C T intron_variant MELA-AU 1 44890349 44890349 single base substitution C T downstream_gene_variant MELA-AU 1 44890349 44890349 single base substitution C T intron_variant MELA-AU 1 44890531 44890531 single base substitution C T downstream_gene_variant MELA-AU 1 44890531 44890531 single base substitution C T intron_variant MELA-AU 1 44890712 44890712 single base substitution T C intron_variant MELA-AU 1 44890779 44890779 single base substitution C T intron_variant MELA-AU 1 44890782 44890782 single base substitution G A intron_variant MELA-AU 1 44890936 44890937 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 44891219 44891219 single base substitution G A intron_variant MELA-AU 1 44891264 44891264 single base substitution A C intron_variant MELA-AU 1 44891413 44891413 single base substitution C G intron_variant MELA-AU 1 44891523 44891523 single base substitution G A intron_variant MELA-AU 1 44891569 44891569 single base substitution G A intron_variant MELA-AU 1 44891589 44891589 single base substitution C T intron_variant MELA-AU 1 44891895 44891895 single base substitution G A intron_variant MELA-AU 1 44891903 44891903 single base substitution C T intron_variant MELA-AU 1 44892080 44892080 single base substitution G A intron_variant MELA-AU 1 44892084 44892084 single base substitution G A intron_variant MELA-AU 1 44892104 44892104 single base substitution A T intron_variant MELA-AU 1 44892186 44892186 single base substitution G A intron_variant MELA-AU 1 44892220 44892220 single base substitution A G intron_variant MELA-AU 1 44892559 44892559 single base substitution C T intron_variant MELA-AU 1 44892763 44892763 single base substitution A T intron_variant MELA-AU 1 44892776 44892776 single base substitution C T intron_variant MELA-AU 1 44892935 44892935 single base substitution G A intron_variant MELA-AU 1 44892937 44892937 single base substitution G A intron_variant MELA-AU 1 44893051 44893051 single base substitution G A intron_variant MELA-AU 1 44893197 44893198 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 44893424 44893424 single base substitution C T intron_variant MELA-AU 1 44893458 44893458 single base substitution G A intron_variant MELA-AU 1 44893577 44893577 single base substitution C T intron_variant MELA-AU 1 44893734 44893734 single base substitution C T intron_variant MELA-AU 1 44894063 44894063 single base substitution C T intron_variant MELA-AU 1 44894128 44894128 single base substitution C T intron_variant MELA-AU 1 44894136 44894136 single base substitution G A intron_variant MELA-AU 1 44894139 44894139 single base substitution G A intron_variant MELA-AU 1 44894347 44894347 single base substitution C T intron_variant MELA-AU 1 44894542 44894542 single base substitution C T intron_variant MELA-AU 1 44894564 44894564 single base substitution A G intron_variant MELA-AU 1 44894584 44894584 single base substitution C T intron_variant MELA-AU 1 44894722 44894722 insertion of <=200bp - TCTT intron_variant MELA-AU 1 44894976 44894976 single base substitution C T intron_variant MELA-AU 1 44895037 44895037 single base substitution G A intron_variant MELA-AU 1 44895057 44895057 single base substitution C T intron_variant MELA-AU 1 44895134 44895134 single base substitution C T intron_variant MELA-AU 1 44895156 44895156 single base substitution C T intron_variant MELA-AU 1 44895182 44895182 single base substitution A G intron_variant MELA-AU 1 44895185 44895185 single base substitution G A intron_variant MELA-AU 1 44895204 44895204 single base substitution G A intron_variant MELA-AU 1 44895300 44895300 single base substitution G A intron_variant MELA-AU 1 44895548 44895548 single base substitution G T intron_variant MELA-AU 1 44895783 44895783 single base substitution C T intron_variant MELA-AU 1 44895830 44895830 single base substitution G A intron_variant MELA-AU 1 44895909 44895909 single base substitution C T intron_variant MELA-AU 1 44896032 44896032 single base substitution G A intron_variant MELA-AU 1 44896505 44896505 single base substitution C T intron_variant MELA-AU 1 44896525 44896525 single base substitution T C intron_variant MELA-AU 1 44896698 44896698 single base substitution A G intron_variant MELA-AU 1 44897088 44897088 single base substitution G A intron_variant MELA-AU 1 44897813 44897813 single base substitution C T intron_variant MELA-AU 1 44897847 44897847 single base substitution T A intron_variant MELA-AU 1 44897879 44897879 single base substitution G A intron_variant MELA-AU 1 44897882 44897882 single base substitution C T intron_variant MELA-AU 1 44898161 44898161 single base substitution C T intron_variant MELA-AU 1 44898284 44898284 single base substitution C T intron_variant MELA-AU 1 44898500 44898500 single base substitution G A intron_variant MELA-AU 1 44898610 44898610 single base substitution C T intron_variant MELA-AU 1 44898804 44898804 single base substitution G T intron_variant MELA-AU 1 44898816 44898816 single base substitution G A intron_variant MELA-AU 1 44899679 44899679 single base substitution A C intron_variant MELA-AU 1 44899934 44899934 single base substitution G A intron_variant MELA-AU 1 44900003 44900003 single base substitution G A intron_variant MELA-AU 1 44900561 44900561 single base substitution T G intron_variant MELA-AU 1 44900607 44900607 single base substitution G A intron_variant MELA-AU 1 44900609 44900609 single base substitution G A intron_variant MELA-AU 1 44901205 44901205 single base substitution C T intron_variant MELA-AU 1 44901207 44901207 single base substitution T G intron_variant MELA-AU 1 44901283 44901283 single base substitution C T intron_variant MELA-AU 1 44901350 44901350 single base substitution C T intron_variant MELA-AU 1 44901516 44901516 single base substitution C T intron_variant MELA-AU 1 44901518 44901518 single base substitution C T intron_variant MELA-AU 1 44901548 44901548 single base substitution C T intron_variant MELA-AU 1 44901624 44901624 single base substitution G A intron_variant MELA-AU 1 44901632 44901632 single base substitution C T intron_variant MELA-AU 1 44901773 44901773 single base substitution C T intron_variant MELA-AU 1 44902178 44902178 single base substitution G A intron_variant MELA-AU 1 44902698 44902698 single base substitution C T intron_variant MELA-AU 1 44903531 44903531 single base substitution C T intron_variant MELA-AU 1 44903597 44903597 single base substitution G C intron_variant MELA-AU 1 44903628 44903628 single base substitution G A intron_variant MELA-AU 1 44904241 44904241 single base substitution G A intron_variant MELA-AU 1 44904266 44904266 single base substitution C T intron_variant MELA-AU 1 44904341 44904341 single base substitution G A intron_variant MELA-AU 1 44905092 44905092 single base substitution G A intron_variant MELA-AU 1 44905097 44905097 single base substitution G A intron_variant MELA-AU 1 44905330 44905330 single base substitution C T intron_variant MELA-AU 1 44905454 44905454 single base substitution C T intron_variant MELA-AU 1 44905615 44905616 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 44905658 44905658 single base substitution G A intron_variant MELA-AU 1 44905677 44905678 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 1 44905729 44905729 single base substitution C T intron_variant MELA-AU 1 44905852 44905852 single base substitution C T intron_variant MELA-AU 1 44906444 44906444 single base substitution C T intron_variant MELA-AU 1 44906665 44906665 single base substitution C T intron_variant MELA-AU 1 44906784 44906784 single base substitution A T intron_variant MELA-AU 1 44906787 44906787 single base substitution G A intron_variant MELA-AU 1 44906823 44906823 single base substitution C T intron_variant MELA-AU 1 44906886 44906886 single base substitution C T intron_variant MELA-AU 1 44906959 44906959 single base substitution G A intron_variant MELA-AU 1 44907167 44907168 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 44907309 44907309 single base substitution G A intron_variant MELA-AU 1 44907386 44907386 single base substitution T A intron_variant MELA-AU 1 44907499 44907499 single base substitution C T intron_variant MELA-AU 1 44908011 44908011 single base substitution C T intron_variant MELA-AU 1 44908666 44908666 single base substitution G A intron_variant MELA-AU 1 44908784 44908784 single base substitution C T intron_variant MELA-AU 1 44908958 44908958 single base substitution C T intron_variant MELA-AU 1 44909035 44909035 single base substitution C T intron_variant MELA-AU 1 44909756 44909756 single base substitution C T intron_variant MELA-AU 1 44909757 44909757 single base substitution C T intron_variant MELA-AU 1 44909774 44909774 single base substitution G A intron_variant MELA-AU 1 44909788 44909788 single base substitution G A intron_variant MELA-AU 1 44910131 44910131 single base substitution G A intron_variant MELA-AU 1 44910590 44910590 single base substitution C T intron_variant MELA-AU 1 44910732 44910732 single base substitution C T intron_variant MELA-AU 1 44910843 44910843 single base substitution C T intron_variant MELA-AU 1 44911068 44911068 single base substitution C T intron_variant MELA-AU 1 44911188 44911188 single base substitution C T intron_variant MELA-AU 1 44911189 44911189 single base substitution C T intron_variant MELA-AU 1 44911234 44911234 single base substitution C A intron_variant MELA-AU 1 44911351 44911351 single base substitution C T intron_variant MELA-AU 1 44911352 44911352 single base substitution C T intron_variant MELA-AU 1 44911392 44911392 single base substitution C T intron_variant MELA-AU 1 44911434 44911435 multiple base substitution (>=2bp and <=200bp) TT GA intron_variant MELA-AU 1 44911711 44911711 single base substitution G A intron_variant MELA-AU 1 44912160 44912160 single base substitution G A intron_variant MELA-AU 1 44912345 44912345 single base substitution C T intron_variant MELA-AU 1 44912373 44912373 single base substitution G A intron_variant MELA-AU 1 44912486 44912486 single base substitution C T intron_variant MELA-AU 1 44912631 44912631 single base substitution C T intron_variant MELA-AU 1 44912665 44912665 single base substitution C T intron_variant MELA-AU 1 44912687 44912687 single base substitution G A intron_variant MELA-AU 1 44913097 44913097 single base substitution C T intron_variant MELA-AU 1 44913325 44913325 single base substitution G A intron_variant MELA-AU 1 44913353 44913353 single base substitution C T intron_variant MELA-AU 1 44913729 44913729 single base substitution G C intron_variant MELA-AU 1 44913908 44913908 single base substitution T C intron_variant MELA-AU 1 44913959 44913959 single base substitution C T intron_variant MELA-AU 1 44914192 44914192 single base substitution G A intron_variant MELA-AU 1 44914273 44914273 single base substitution G A intron_variant MELA-AU 1 44914644 44914644 single base substitution C G intron_variant MELA-AU 1 44914707 44914707 single base substitution C T intron_variant MELA-AU 1 44914846 44914846 single base substitution G A intron_variant MELA-AU 1 44914881 44914881 single base substitution G A intron_variant MELA-AU 1 44914938 44914938 single base substitution G A intron_variant MELA-AU 1 44915014 44915014 single base substitution C T intron_variant MELA-AU 1 44915057 44915057 single base substitution C T intron_variant MELA-AU 1 44915113 44915113 single base substitution C T intron_variant MELA-AU 1 44915789 44915789 single base substitution G A intron_variant MELA-AU 1 44915866 44915866 single base substitution G A intron_variant MELA-AU 1 44915977 44915978 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 44916005 44916005 single base substitution T A intron_variant MELA-AU 1 44916107 44916107 single base substitution C T intron_variant MELA-AU 1 44916259 44916260 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 44916349 44916349 single base substitution C T intron_variant MELA-AU 1 44916387 44916387 single base substitution C T intron_variant MELA-AU 1 44916824 44916824 single base substitution C T intron_variant MELA-AU 1 44917020 44917020 single base substitution T A intron_variant MELA-AU 1 44917047 44917047 single base substitution G A intron_variant MELA-AU 1 44917166 44917166 single base substitution C T intron_variant MELA-AU 1 44917286 44917286 single base substitution T A intron_variant MELA-AU 1 44917291 44917291 single base substitution G A intron_variant MELA-AU 1 44917557 44917557 single base substitution C T intron_variant MELA-AU 1 44917608 44917608 single base substitution C T intron_variant MELA-AU 1 44917792 44917792 single base substitution C T intron_variant MELA-AU 1 44917831 44917831 single base substitution C T intron_variant MELA-AU 1 44917848 44917848 single base substitution C T intron_variant MELA-AU 1 44917871 44917871 single base substitution C T intron_variant MELA-AU 1 44918005 44918005 single base substitution C T intron_variant MELA-AU 1 44918021 44918021 single base substitution T C intron_variant MELA-AU 1 44918023 44918023 single base substitution C T intron_variant MELA-AU 1 44918220 44918220 single base substitution C T intron_variant MELA-AU 1 44918233 44918233 single base substitution A T intron_variant MELA-AU 1 44918291 44918291 single base substitution C T intron_variant MELA-AU 1 44918316 44918316 single base substitution G A intron_variant MELA-AU 1 44918384 44918384 single base substitution C T intron_variant MELA-AU 1 44918464 44918464 single base substitution C T intron_variant MELA-AU 1 44918560 44918560 single base substitution C T intron_variant MELA-AU 1 44918631 44918631 single base substitution G A intron_variant MELA-AU 1 44918774 44918774 single base substitution C T intron_variant MELA-AU 1 44918779 44918779 single base substitution C T intron_variant MELA-AU 1 44918820 44918820 single base substitution T A intron_variant MELA-AU 1 44918987 44918987 single base substitution G A intron_variant MELA-AU 1 44919071 44919071 single base substitution G A intron_variant MELA-AU 1 44919091 44919091 single base substitution A G intron_variant MELA-AU 1 44919127 44919127 single base substitution T C intron_variant MELA-AU 1 44919160 44919160 single base substitution C T intron_variant MELA-AU 1 44919169 44919169 single base substitution C T intron_variant MELA-AU 1 44919348 44919348 single base substitution T A intron_variant MELA-AU 1 44919371 44919371 single base substitution G A intron_variant MELA-AU 1 44919530 44919530 single base substitution G A intron_variant MELA-AU 1 44919779 44919779 single base substitution C T intron_variant MELA-AU 1 44919791 44919791 single base substitution C T intron_variant MELA-AU 1 44919846 44919846 single base substitution A T intron_variant MELA-AU 1 44919950 44919950 single base substitution C T intron_variant MELA-AU 1 44919966 44919966 single base substitution C T intron_variant MELA-AU 1 44919972 44919972 single base substitution C T intron_variant MELA-AU 1 44920047 44920047 single base substitution C T intron_variant MELA-AU 1 44920145 44920145 single base substitution C T intron_variant MELA-AU 1 44920186 44920186 single base substitution C T intron_variant MELA-AU 1 44920272 44920272 single base substitution T C intron_variant MELA-AU 1 44920313 44920313 single base substitution C T intron_variant MELA-AU 1 44920356 44920356 single base substitution G A intron_variant MELA-AU 1 44920365 44920365 single base substitution C T intron_variant MELA-AU 1 44920480 44920480 single base substitution C T intron_variant MELA-AU 1 44920549 44920549 single base substitution C T intron_variant MELA-AU 1 44920571 44920571 single base substitution C T intron_variant MELA-AU 1 44920669 44920669 single base substitution A T intron_variant MELA-AU 1 44920777 44920777 single base substitution A G intron_variant MELA-AU 1 44920808 44920808 single base substitution C T intron_variant MELA-AU 1 44920959 44920959 single base substitution G A intron_variant MELA-AU 1 44920982 44920982 single base substitution G A intron_variant MELA-AU 1 44920999 44920999 single base substitution G A intron_variant MELA-AU 1 44921086 44921086 single base substitution G A intron_variant MELA-AU 1 44921181 44921181 single base substitution G A intron_variant MELA-AU 1 44921357 44921357 single base substitution G A intron_variant MELA-AU 1 44921480 44921480 single base substitution G A intron_variant MELA-AU 1 44921617 44921617 single base substitution G A intron_variant MELA-AU 1 44921618 44921618 single base substitution G A intron_variant MELA-AU 1 44921668 44921668 single base substitution G A intron_variant MELA-AU 1 44921671 44921671 single base substitution C T intron_variant MELA-AU 1 44921753 44921753 single base substitution G A intron_variant MELA-AU 1 44921779 44921779 single base substitution G A intron_variant MELA-AU 1 44921809 44921809 single base substitution C T intron_variant MELA-AU 1 44921958 44921958 single base substitution G A intron_variant MELA-AU 1 44921989 44921989 single base substitution C T intron_variant MELA-AU 1 44922243 44922243 single base substitution C T intron_variant MELA-AU 1 44922248 44922248 single base substitution C T intron_variant MELA-AU 1 44922261 44922261 single base substitution C T intron_variant MELA-AU 1 44922284 44922284 single base substitution G A intron_variant MELA-AU 1 44922376 44922376 single base substitution C T intron_variant MELA-AU 1 44922575 44922576 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 44922739 44922739 single base substitution C T intron_variant MELA-AU 1 44923072 44923072 single base substitution C T intron_variant MELA-AU 1 44923164 44923164 single base substitution G A intron_variant MELA-AU 1 44923185 44923185 single base substitution C T intron_variant MELA-AU 1 44923400 44923400 single base substitution A T intron_variant MELA-AU 1 44923454 44923454 single base substitution A G intron_variant MELA-AU 1 44923998 44923998 single base substitution G A intron_variant MELA-AU 1 44924584 44924584 single base substitution C T intron_variant MELA-AU 1 44924658 44924658 single base substitution C T intron_variant MELA-AU 1 44924905 44924905 single base substitution C T intron_variant MELA-AU 1 44924978 44924978 single base substitution T A intron_variant MELA-AU 1 44924985 44924985 single base substitution C T intron_variant MELA-AU 1 44924987 44924987 single base substitution A G intron_variant MELA-AU 1 44925020 44925020 single base substitution C T intron_variant MELA-AU 1 44925090 44925090 single base substitution C T intron_variant MELA-AU 1 44925118 44925118 single base substitution C T intron_variant MELA-AU 1 44925255 44925255 single base substitution G A intron_variant MELA-AU 1 44925442 44925442 single base substitution G A intron_variant MELA-AU 1 44925460 44925460 single base substitution G A intron_variant MELA-AU 1 44925582 44925582 single base substitution G A intron_variant MELA-AU 1 44925706 44925706 single base substitution G A intron_variant MELA-AU 1 44925975 44925975 single base substitution G A intron_variant MELA-AU 1 44926092 44926092 single base substitution G A intron_variant MELA-AU 1 44926121 44926121 single base substitution G A intron_variant MELA-AU 1 44926261 44926261 single base substitution G A intron_variant MELA-AU 1 44926293 44926293 single base substitution G A intron_variant MELA-AU 1 44926372 44926372 single base substitution C T intron_variant MELA-AU 1 44926394 44926394 single base substitution G C intron_variant MELA-AU 1 44926446 44926446 single base substitution C T intron_variant MELA-AU 1 44926463 44926463 single base substitution G A intron_variant MELA-AU 1 44926857 44926857 single base substitution G A intron_variant MELA-AU 1 44927106 44927106 single base substitution C T intron_variant MELA-AU 1 44927159 44927159 single base substitution G A intron_variant MELA-AU 1 44927423 44927423 single base substitution G A intron_variant MELA-AU 1 44927634 44927634 single base substitution C T intron_variant MELA-AU 1 44927690 44927690 single base substitution C T intron_variant MELA-AU 1 44927709 44927709 single base substitution C T intron_variant MELA-AU 1 44927710 44927710 single base substitution C T intron_variant MELA-AU 1 44927805 44927805 single base substitution C T intron_variant MELA-AU 1 44927925 44927925 single base substitution G A intron_variant MELA-AU 1 44927939 44927939 single base substitution G A intron_variant MELA-AU 1 44928049 44928049 single base substitution G A intron_variant MELA-AU 1 44928073 44928073 single base substitution C T intron_variant MELA-AU 1 44928218 44928218 single base substitution C T intron_variant MELA-AU 1 44928429 44928429 deletion of <=200bp G - intron_variant MELA-AU 1 44928505 44928505 single base substitution C T intron_variant MELA-AU 1 44928526 44928526 single base substitution C T intron_variant MELA-AU 1 44928713 44928713 single base substitution G A intron_variant MELA-AU 1 44928777 44928777 single base substitution G A intron_variant MELA-AU 1 44928836 44928836 single base substitution C T intron_variant MELA-AU 1 44928872 44928872 single base substitution G A intron_variant MELA-AU 1 44928891 44928892 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 44929115 44929115 single base substitution C T intron_variant MELA-AU 1 44929270 44929270 single base substitution G A intron_variant MELA-AU 1 44929353 44929353 single base substitution A C intron_variant MELA-AU 1 44929560 44929560 single base substitution C T intron_variant MELA-AU 1 44929608 44929608 single base substitution G A intron_variant MELA-AU 1 44929947 44929947 single base substitution C T intron_variant MELA-AU 1 44930013 44930013 single base substitution C T intron_variant MELA-AU 1 44930044 44930044 single base substitution C T intron_variant MELA-AU 1 44930276 44930276 single base substitution G A intron_variant MELA-AU 1 44930300 44930300 single base substitution T A intron_variant MELA-AU 1 44930404 44930404 single base substitution C T intron_variant MELA-AU 1 44930441 44930441 single base substitution G A intron_variant MELA-AU 1 44930530 44930530 single base substitution C T intron_variant MELA-AU 1 44930787 44930787 single base substitution C T intron_variant MELA-AU 1 44930814 44930814 single base substitution C T intron_variant MELA-AU 1 44931380 44931380 single base substitution G A intron_variant MELA-AU 1 44931823 44931823 single base substitution C T intron_variant MELA-AU 1 44932029 44932029 single base substitution C T intron_variant MELA-AU 1 44932052 44932052 single base substitution G A intron_variant MELA-AU 1 44932110 44932110 single base substitution C T intron_variant MELA-AU 1 44932146 44932146 single base substitution C T intron_variant MELA-AU 1 44932502 44932502 single base substitution G A intron_variant MELA-AU 1 44932506 44932506 single base substitution A C intron_variant MELA-AU 1 44932906 44932906 single base substitution G A intron_variant MELA-AU 1 44932913 44932913 single base substitution C T intron_variant MELA-AU 1 44933501 44933501 single base substitution T C intron_variant MELA-AU 1 44934346 44934346 single base substitution G A intron_variant MELA-AU 1 44934790 44934790 single base substitution A T intron_variant MELA-AU 1 44934858 44934858 single base substitution G C intron_variant MELA-AU 1 44934936 44934936 single base substitution C T intron_variant MELA-AU 1 44934955 44934955 single base substitution G A intron_variant MELA-AU 1 44935339 44935339 single base substitution C T intron_variant MELA-AU 1 44935531 44935531 single base substitution G A intron_variant MELA-AU 1 44936165 44936165 single base substitution C T intron_variant MELA-AU 1 44936453 44936453 single base substitution C T intron_variant MELA-AU 1 44936487 44936487 single base substitution C T intron_variant MELA-AU 1 44936503 44936503 single base substitution T A intron_variant MELA-AU 1 44936542 44936542 single base substitution C T intron_variant MELA-AU 1 44936559 44936559 single base substitution G A intron_variant MELA-AU 1 44936587 44936587 single base substitution G A intron_variant MELA-AU 1 44936919 44936919 single base substitution G A intron_variant MELA-AU 1 44936925 44936925 single base substitution C T intron_variant MELA-AU 1 44937075 44937075 single base substitution G A intron_variant MELA-AU 1 44937323 44937323 single base substitution C T intron_variant MELA-AU 1 44937431 44937431 single base substitution G A intron_variant MELA-AU 1 44937550 44937550 single base substitution C T intron_variant MELA-AU 1 44937556 44937556 single base substitution C T intron_variant MELA-AU 1 44937728 44937728 single base substitution C T intron_variant MELA-AU 1 44937895 44937895 single base substitution G A intron_variant MELA-AU 1 44937974 44937974 single base substitution C T intron_variant MELA-AU 1 44938026 44938026 single base substitution T C intron_variant MELA-AU 1 44938151 44938151 single base substitution C T intron_variant MELA-AU 1 44938618 44938618 single base substitution C T intron_variant MELA-AU 1 44938768 44938768 single base substitution G A intron_variant MELA-AU 1 44938823 44938823 single base substitution C T intron_variant MELA-AU 1 44938890 44938890 single base substitution A G intron_variant MELA-AU 1 44938932 44938932 single base substitution T C intron_variant MELA-AU 1 44939230 44939230 single base substitution C T intron_variant MELA-AU 1 44939339 44939339 single base substitution C T intron_variant MELA-AU 1 44939402 44939402 single base substitution G A intron_variant MELA-AU 1 44939713 44939713 single base substitution C T intron_variant MELA-AU 1 44939737 44939737 single base substitution G A intron_variant MELA-AU 1 44939768 44939768 single base substitution C T intron_variant MELA-AU 1 44940307 44940307 single base substitution G A intron_variant MELA-AU 1 44940332 44940332 single base substitution G A intron_variant MELA-AU 1 44940350 44940350 single base substitution C T intron_variant MELA-AU 1 44940380 44940380 single base substitution C T intron_variant MELA-AU 1 44940382 44940382 single base substitution G A intron_variant MELA-AU 1 44940507 44940507 single base substitution G A intron_variant MELA-AU 1 44940508 44940508 single base substitution G A intron_variant MELA-AU 1 44940607 44940607 single base substitution C T intron_variant MELA-AU 1 44940616 44940616 single base substitution G A intron_variant MELA-AU 1 44940806 44940806 single base substitution C T intron_variant MELA-AU 1 44940863 44940863 single base substitution C T intron_variant MELA-AU 1 44941161 44941161 single base substitution G A intron_variant MELA-AU 1 44941168 44941168 single base substitution G A intron_variant MELA-AU 1 44941235 44941235 single base substitution G A intron_variant MELA-AU 1 44941320 44941320 single base substitution C T intron_variant MELA-AU 1 44941355 44941355 single base substitution G A intron_variant MELA-AU 1 44941861 44941861 single base substitution C T intron_variant MELA-AU 1 44941890 44941890 single base substitution G A intron_variant MELA-AU 1 44942047 44942047 single base substitution G A intron_variant MELA-AU 1 44942068 44942068 single base substitution G A intron_variant MELA-AU 1 44942202 44942202 single base substitution C A intron_variant MELA-AU 1 44942232 44942233 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 44942351 44942352 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 44942803 44942803 single base substitution C T intron_variant MELA-AU 1 44942819 44942819 single base substitution G A intron_variant MELA-AU 1 44942896 44942896 single base substitution C T intron_variant MELA-AU 1 44942986 44942986 single base substitution G A intron_variant MELA-AU 1 44943022 44943022 single base substitution G A intron_variant MELA-AU 1 44943031 44943031 single base substitution C T intron_variant MELA-AU 1 44943112 44943112 single base substitution G A intron_variant MELA-AU 1 44943113 44943113 single base substitution G A intron_variant MELA-AU 1 44943206 44943206 single base substitution A G intron_variant MELA-AU 1 44943697 44943697 single base substitution C T intron_variant MELA-AU 1 44943890 44943890 single base substitution G A intron_variant MELA-AU 1 44943921 44943921 single base substitution C T intron_variant MELA-AU 1 44944087 44944087 single base substitution C T intron_variant MELA-AU 1 44944142 44944142 single base substitution C T intron_variant MELA-AU 1 44944186 44944186 single base substitution G A intron_variant MELA-AU 1 44944252 44944253 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 44944668 44944668 single base substitution C T intron_variant MELA-AU 1 44944735 44944735 single base substitution T G intron_variant MELA-AU 1 44944780 44944780 single base substitution A C intron_variant MELA-AU 1 44944818 44944818 single base substitution C T intron_variant MELA-AU 1 44944884 44944884 single base substitution T C intron_variant MELA-AU 1 44944898 44944898 single base substitution C T intron_variant MELA-AU 1 44945070 44945070 single base substitution G A intron_variant MELA-AU 1 44945352 44945352 single base substitution C A intron_variant MELA-AU 1 44945499 44945499 single base substitution C T intron_variant MELA-AU 1 44945938 44945938 single base substitution G A intron_variant MELA-AU 1 44945990 44945990 single base substitution G A intron_variant MELA-AU 1 44946099 44946099 single base substitution T C intron_variant MELA-AU 1 44946534 44946534 single base substitution G A intron_variant MELA-AU 1 44946625 44946625 single base substitution G A intron_variant MELA-AU 1 44946725 44946725 single base substitution G A intron_variant MELA-AU 1 44946776 44946776 single base substitution A G intron_variant MELA-AU 1 44946796 44946796 single base substitution G A intron_variant MELA-AU 1 44947408 44947408 single base substitution A G intron_variant MELA-AU 1 44947571 44947571 single base substitution G A intron_variant MELA-AU 1 44947585 44947585 single base substitution C T intron_variant MELA-AU 1 44947645 44947645 single base substitution C A intron_variant MELA-AU 1 44947645 44947645 single base substitution C T intron_variant MELA-AU 1 44947672 44947672 single base substitution A T intron_variant MELA-AU 1 44947682 44947682 single base substitution C T intron_variant MELA-AU 1 44948010 44948010 single base substitution G A intron_variant MELA-AU 1 44948143 44948143 single base substitution C A intron_variant MELA-AU 1 44948403 44948403 single base substitution C T intron_variant MELA-AU 1 44948775 44948775 single base substitution C T intron_variant MELA-AU 1 44948815 44948815 single base substitution C T intron_variant MELA-AU 1 44948943 44948943 single base substitution C T intron_variant MELA-AU 1 44948944 44948944 single base substitution C T intron_variant MELA-AU 1 44948976 44948976 single base substitution C T intron_variant MELA-AU 1 44949026 44949026 single base substitution G A intron_variant MELA-AU 1 44949334 44949334 single base substitution G A intron_variant MELA-AU 1 44949384 44949384 single base substitution G A intron_variant MELA-AU 1 44949593 44949593 single base substitution C T intron_variant MELA-AU 1 44949685 44949685 single base substitution G A intron_variant MELA-AU 1 44949706 44949706 single base substitution G A intron_variant MELA-AU 1 44949823 44949823 single base substitution C T intron_variant MELA-AU 1 44949883 44949883 single base substitution G A intron_variant MELA-AU 1 44949923 44949923 single base substitution G A intron_variant MELA-AU 1 44950000 44950000 single base substitution G A intron_variant MELA-AU 1 44950611 44950611 single base substitution C T intron_variant MELA-AU 1 44950762 44950762 single base substitution C T intron_variant MELA-AU 1 44950801 44950801 single base substitution C T intron_variant MELA-AU 1 44950948 44950948 single base substitution C T intron_variant MELA-AU 1 44950963 44950963 single base substitution C T intron_variant MELA-AU 1 44951049 44951049 single base substitution C T intron_variant MELA-AU 1 44951214 44951214 single base substitution C T intron_variant MELA-AU 1 44951224 44951224 single base substitution C T intron_variant MELA-AU 1 44951232 44951232 single base substitution C T intron_variant MELA-AU 1 44951233 44951233 single base substitution C T intron_variant MELA-AU 1 44951240 44951240 single base substitution A T intron_variant MELA-AU 1 44951279 44951279 single base substitution C T intron_variant MELA-AU 1 44951316 44951316 single base substitution C T intron_variant MELA-AU 1 44951349 44951349 single base substitution C T intron_variant MELA-AU 1 44951476 44951476 single base substitution G A intron_variant MELA-AU 1 44951542 44951542 single base substitution G A intron_variant MELA-AU 1 44951705 44951705 single base substitution T A intron_variant MELA-AU 1 44951846 44951846 single base substitution C T intron_variant MELA-AU 1 44951972 44951972 single base substitution G A intron_variant MELA-AU 1 44952061 44952061 single base substitution G A intron_variant MELA-AU 1 44952120 44952120 single base substitution G A intron_variant MELA-AU 1 44952230 44952230 single base substitution C T intron_variant MELA-AU 1 44952246 44952246 single base substitution C T intron_variant MELA-AU 1 44952343 44952343 single base substitution C T intron_variant MELA-AU 1 44952522 44952522 single base substitution G A intron_variant MELA-AU 1 44952563 44952563 single base substitution G A intron_variant MELA-AU 1 44952793 44952793 single base substitution G A intron_variant MELA-AU 1 44952934 44952934 single base substitution G A intron_variant MELA-AU 1 44953000 44953000 single base substitution C T intron_variant MELA-AU 1 44953127 44953127 single base substitution G T intron_variant MELA-AU 1 44953903 44953903 single base substitution G C intron_variant MELA-AU 1 44953931 44953931 single base substitution C T intron_variant MELA-AU 1 44953991 44953991 single base substitution G A intron_variant MELA-AU 1 44954026 44954026 single base substitution C T intron_variant MELA-AU 1 44954836 44954836 single base substitution G A intron_variant MELA-AU 1 44954893 44954893 single base substitution G A intron_variant MELA-AU 1 44954997 44954997 single base substitution G A intron_variant MELA-AU 1 44955124 44955124 single base substitution C T intron_variant MELA-AU 1 44955298 44955298 single base substitution G A intron_variant MELA-AU 1 44955321 44955321 single base substitution G A intron_variant MELA-AU 1 44955370 44955370 single base substitution C T intron_variant MELA-AU 1 44955432 44955432 single base substitution C T intron_variant MELA-AU 1 44955503 44955503 single base substitution G A intron_variant MELA-AU 1 44955524 44955524 single base substitution C T intron_variant MELA-AU 1 44955576 44955576 single base substitution G A intron_variant MELA-AU 1 44955646 44955646 single base substitution T C intron_variant MELA-AU 1 44955880 44955880 single base substitution C T intron_variant MELA-AU 1 44955982 44955982 single base substitution G A intron_variant MELA-AU 1 44956026 44956026 single base substitution C T intron_variant MELA-AU 1 44956052 44956052 single base substitution G A intron_variant MELA-AU 1 44956143 44956143 single base substitution C T intron_variant MELA-AU 1 44956276 44956276 single base substitution G A intron_variant MELA-AU 1 44956278 44956278 single base substitution A T intron_variant MELA-AU 1 44956563 44956563 single base substitution G A intron_variant MELA-AU 1 44956579 44956579 single base substitution T A intron_variant MELA-AU 1 44956657 44956657 single base substitution G A intron_variant MELA-AU 1 44956771 44956771 single base substitution C T intron_variant MELA-AU 1 44956894 44956894 single base substitution C T intron_variant MELA-AU 1 44956895 44956895 single base substitution C T intron_variant MELA-AU 1 44956949 44956949 single base substitution C T intron_variant MELA-AU 1 44957156 44957156 single base substitution G A intron_variant MELA-AU 1 44957301 44957301 single base substitution C T intron_variant MELA-AU 1 44957312 44957312 single base substitution G A intron_variant MELA-AU 1 44957578 44957578 single base substitution C T intron_variant MELA-AU 1 44957812 44957812 single base substitution G A intron_variant MELA-AU 1 44957872 44957872 single base substitution C T intron_variant MELA-AU 1 44957877 44957877 single base substitution C T intron_variant MELA-AU 1 44958016 44958016 single base substitution G A intron_variant MELA-AU 1 44958018 44958018 single base substitution A T intron_variant MELA-AU 1 44958161 44958161 single base substitution G A intron_variant MELA-AU 1 44958262 44958262 single base substitution G A intron_variant MELA-AU 1 44958574 44958574 single base substitution G A intron_variant MELA-AU 1 44958935 44958935 single base substitution C T intron_variant MELA-AU 1 44959032 44959032 single base substitution G A intron_variant MELA-AU 1 44959080 44959080 single base substitution G A intron_variant MELA-AU 1 44959283 44959283 single base substitution A G intron_variant MELA-AU 1 44959312 44959312 single base substitution C T intron_variant MELA-AU 1 44959470 44959470 single base substitution G A intron_variant MELA-AU 1 44959513 44959513 single base substitution T A intron_variant MELA-AU 1 44959537 44959537 single base substitution C T intron_variant MELA-AU 1 44959563 44959563 single base substitution C T intron_variant MELA-AU 1 44959614 44959614 single base substitution C T intron_variant MELA-AU 1 44959639 44959639 single base substitution G A intron_variant MELA-AU 1 44960025 44960025 single base substitution G A intron_variant MELA-AU 1 44960401 44960401 single base substitution G A intron_variant MELA-AU 1 44960437 44960437 single base substitution C T intron_variant MELA-AU 1 44960661 44960661 single base substitution G A intron_variant MELA-AU 1 44960677 44960677 single base substitution G A intron_variant MELA-AU 1 44960996 44960996 single base substitution C G intron_variant MELA-AU 1 44961018 44961018 single base substitution T C intron_variant MELA-AU 1 44961178 44961178 single base substitution G A intron_variant MELA-AU 1 44961234 44961234 single base substitution T C intron_variant MELA-AU 1 44962202 44962202 single base substitution C T intron_variant MELA-AU 1 44962303 44962303 single base substitution C T intron_variant MELA-AU 1 44962509 44962509 single base substitution G A intron_variant MELA-AU 1 44962552 44962552 single base substitution G A intron_variant MELA-AU 1 44962623 44962623 single base substitution G A intron_variant MELA-AU 1 44963090 44963090 single base substitution C T intron_variant MELA-AU 1 44963200 44963200 single base substitution G A intron_variant MELA-AU 1 44963208 44963208 single base substitution C T intron_variant MELA-AU 1 44963320 44963320 single base substitution C T intron_variant MELA-AU 1 44963577 44963577 single base substitution C T intron_variant MELA-AU 1 44963595 44963595 single base substitution G A intron_variant MELA-AU 1 44963686 44963686 single base substitution G A intron_variant MELA-AU 1 44963714 44963714 single base substitution A C intron_variant MELA-AU 1 44963726 44963726 single base substitution C T intron_variant MELA-AU 1 44964076 44964076 single base substitution C T intron_variant MELA-AU 1 44964177 44964177 single base substitution A G intron_variant MELA-AU 1 44964203 44964203 single base substitution G A intron_variant MELA-AU 1 44964213 44964213 single base substitution C T intron_variant MELA-AU 1 44964632 44964632 single base substitution G A intron_variant MELA-AU 1 44964846 44964846 single base substitution C T intron_variant MELA-AU 1 44965166 44965166 single base substitution C T intron_variant MELA-AU 1 44965204 44965204 single base substitution C T intron_variant MELA-AU 1 44965205 44965205 single base substitution C T intron_variant MELA-AU 1 44965288 44965288 single base substitution C T intron_variant MELA-AU 1 44965426 44965426 single base substitution G A intron_variant MELA-AU 1 44965617 44965617 single base substitution C T intron_variant MELA-AU 1 44965830 44965830 single base substitution G A intron_variant MELA-AU 1 44965878 44965878 single base substitution C T intron_variant MELA-AU 1 44965925 44965925 single base substitution C T intron_variant MELA-AU 1 44965982 44965983 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 44966010 44966010 single base substitution C T intron_variant MELA-AU 1 44966088 44966088 single base substitution C T intron_variant MELA-AU 1 44966439 44966439 single base substitution C T intron_variant MELA-AU 1 44966450 44966450 single base substitution G A intron_variant MELA-AU 1 44966490 44966490 single base substitution C T intron_variant MELA-AU 1 44966532 44966532 single base substitution G A intron_variant MELA-AU 1 44966734 44966734 single base substitution G A intron_variant MELA-AU 1 44966779 44966779 single base substitution C T intron_variant MELA-AU 1 44966780 44966780 single base substitution C T intron_variant MELA-AU 1 44966836 44966836 single base substitution G A intron_variant MELA-AU 1 44967430 44967430 single base substitution G A intron_variant MELA-AU 1 44967515 44967515 single base substitution A G intron_variant MELA-AU 1 44968128 44968128 single base substitution A T intron_variant MELA-AU 1 44968396 44968396 single base substitution C T intron_variant MELA-AU 1 44968927 44968927 single base substitution A T intron_variant MELA-AU 1 44969439 44969439 single base substitution G T intron_variant MELA-AU 1 44969564 44969564 single base substitution C T intron_variant MELA-AU 1 44969607 44969607 single base substitution C T intron_variant MELA-AU 1 44969685 44969685 single base substitution C T intron_variant MELA-AU 1 44969718 44969718 single base substitution C T intron_variant MELA-AU 1 44969736 44969736 single base substitution G A intron_variant MELA-AU 1 44969808 44969808 single base substitution C T intron_variant MELA-AU 1 44970062 44970062 single base substitution G A intron_variant MELA-AU 1 44970130 44970130 single base substitution C T intron_variant MELA-AU 1 44970133 44970133 single base substitution A C intron_variant MELA-AU 1 44970218 44970218 single base substitution A C intron_variant MELA-AU 1 44970230 44970230 single base substitution G A intron_variant MELA-AU 1 44970546 44970546 single base substitution C T intron_variant MELA-AU 1 44970639 44970639 single base substitution C T intron_variant MELA-AU 1 44970649 44970649 single base substitution G A intron_variant MELA-AU 1 44970709 44970709 single base substitution C T intron_variant MELA-AU 1 44970742 44970742 single base substitution C T intron_variant MELA-AU 1 44970796 44970796 single base substitution G A intron_variant MELA-AU 1 44970869 44970869 single base substitution C T intron_variant MELA-AU 1 44970905 44970905 single base substitution C T intron_variant MELA-AU 1 44970931 44970931 single base substitution C T intron_variant MELA-AU 1 44971279 44971279 single base substitution G A intron_variant MELA-AU 1 44971286 44971286 single base substitution G A intron_variant MELA-AU 1 44971307 44971307 single base substitution G A intron_variant MELA-AU 1 44971607 44971607 single base substitution G A intron_variant MELA-AU 1 44971614 44971614 single base substitution C T intron_variant MELA-AU 1 44971622 44971622 single base substitution C T intron_variant MELA-AU 1 44971654 44971654 single base substitution C T intron_variant MELA-AU 1 44971829 44971829 single base substitution C T intron_variant MELA-AU 1 44971858 44971858 single base substitution C T intron_variant MELA-AU 1 44971940 44971940 single base substitution C T intron_variant MELA-AU 1 44972030 44972030 single base substitution C T intron_variant MELA-AU 1 44972041 44972041 single base substitution C T intron_variant MELA-AU 1 44972104 44972104 single base substitution C T intron_variant MELA-AU 1 44972116 44972116 single base substitution C T intron_variant MELA-AU 1 44972350 44972350 single base substitution G A intron_variant MELA-AU 1 44973072 44973072 single base substitution G A intron_variant MELA-AU 1 44973138 44973138 single base substitution G A intron_variant MELA-AU 1 44973189 44973189 single base substitution C T intron_variant MELA-AU 1 44973508 44973508 single base substitution G A intron_variant MELA-AU 1 44973572 44973572 single base substitution C T intron_variant MELA-AU 1 44973965 44973965 single base substitution G A intron_variant MELA-AU 1 44974113 44974113 single base substitution C T intron_variant MELA-AU 1 44974142 44974142 single base substitution T A intron_variant MELA-AU 1 44974241 44974241 single base substitution C T intron_variant MELA-AU 1 44974494 44974494 single base substitution G A intron_variant MELA-AU 1 44974563 44974563 single base substitution G A intron_variant MELA-AU 1 44974749 44974749 single base substitution G A intron_variant MELA-AU 1 44974771 44974772 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 44974828 44974828 single base substitution C T intron_variant MELA-AU 1 44974854 44974854 single base substitution T G intron_variant MELA-AU 1 44975125 44975126 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 44975378 44975378 single base substitution G A intron_variant MELA-AU 1 44975580 44975580 single base substitution G A intron_variant MELA-AU 1 44975985 44975985 single base substitution G A intron_variant MELA-AU 1 44975995 44975995 single base substitution G A intron_variant MELA-AU 1 44976058 44976058 single base substitution C T intron_variant MELA-AU 1 44976115 44976115 single base substitution C T intron_variant MELA-AU 1 44976231 44976231 single base substitution C T intron_variant MELA-AU 1 44976306 44976306 single base substitution C T intron_variant MELA-AU 1 44976357 44976357 single base substitution G A intron_variant MELA-AU 1 44976371 44976371 single base substitution G A intron_variant MELA-AU 1 44976609 44976609 single base substitution C T intron_variant MELA-AU 1 44976619 44976619 single base substitution G A intron_variant MELA-AU 1 44977015 44977015 single base substitution G A intron_variant MELA-AU 1 44977257 44977257 single base substitution G A intron_variant MELA-AU 1 44977588 44977588 single base substitution C T intron_variant MELA-AU 1 44977795 44977795 single base substitution C T intron_variant MELA-AU 1 44977986 44977986 single base substitution G A intron_variant MELA-AU 1 44978121 44978121 single base substitution G A intron_variant MELA-AU 1 44978134 44978134 single base substitution G A intron_variant MELA-AU 1 44978452 44978452 single base substitution C T intron_variant MELA-AU 1 44978470 44978470 single base substitution G A intron_variant MELA-AU 1 44978616 44978616 single base substitution G A intron_variant MELA-AU 1 44978697 44978697 single base substitution C T intron_variant MELA-AU 1 44978939 44978939 single base substitution G A intron_variant MELA-AU 1 44979075 44979075 single base substitution C T intron_variant MELA-AU 1 44979150 44979150 single base substitution T A intron_variant MELA-AU 1 44979247 44979247 single base substitution G A intron_variant MELA-AU 1 44979307 44979307 single base substitution G A intron_variant MELA-AU 1 44979376 44979376 single base substitution G A intron_variant MELA-AU 1 44979416 44979416 single base substitution C T intron_variant MELA-AU 1 44979566 44979566 single base substitution C T intron_variant MELA-AU 1 44979602 44979602 single base substitution C T intron_variant MELA-AU 1 44979853 44979853 single base substitution C T intron_variant MELA-AU 1 44979984 44979984 single base substitution C A intron_variant MELA-AU 1 44980074 44980074 single base substitution G A intron_variant MELA-AU 1 44980094 44980094 single base substitution G A intron_variant MELA-AU 1 44980156 44980156 single base substitution G A intron_variant MELA-AU 1 44980161 44980161 single base substitution C T intron_variant MELA-AU 1 44980369 44980369 single base substitution G A intron_variant MELA-AU 1 44980478 44980478 single base substitution G A intron_variant MELA-AU 1 44980618 44980618 single base substitution G A intron_variant MELA-AU 1 44980667 44980667 single base substitution G T intron_variant MELA-AU 1 44980795 44980795 single base substitution G A intron_variant MELA-AU 1 44980801 44980801 single base substitution A G intron_variant MELA-AU 1 44980961 44980961 single base substitution G A intron_variant MELA-AU 1 44981158 44981158 single base substitution G A intron_variant MELA-AU 1 44981489 44981489 single base substitution G A intron_variant MELA-AU 1 44981528 44981528 single base substitution G A intron_variant MELA-AU 1 44981559 44981559 single base substitution C T intron_variant MELA-AU 1 44981640 44981640 single base substitution C T intron_variant MELA-AU 1 44982329 44982329 single base substitution G A intron_variant MELA-AU 1 44982352 44982352 single base substitution T A intron_variant MELA-AU 1 44982389 44982389 single base substitution G A intron_variant MELA-AU 1 44982437 44982437 single base substitution C T intron_variant MELA-AU 1 44982484 44982484 single base substitution C T intron_variant MELA-AU 1 44982490 44982490 single base substitution C T intron_variant MELA-AU 1 44982637 44982637 single base substitution C T intron_variant MELA-AU 1 44982645 44982645 single base substitution C T intron_variant MELA-AU 1 44982658 44982658 single base substitution C T intron_variant MELA-AU 1 44982675 44982675 single base substitution G A intron_variant MELA-AU 1 44982707 44982707 single base substitution C T intron_variant MELA-AU 1 44982758 44982758 single base substitution C T intron_variant MELA-AU 1 44982794 44982794 single base substitution C T intron_variant MELA-AU 1 44982826 44982826 single base substitution G A intron_variant MELA-AU 1 44982943 44982943 single base substitution C T intron_variant MELA-AU 1 44982982 44982982 single base substitution C T intron_variant MELA-AU 1 44983140 44983140 single base substitution C T intron_variant MELA-AU 1 44983555 44983555 single base substitution G A intron_variant MELA-AU 1 44983612 44983612 single base substitution C T intron_variant MELA-AU 1 44983951 44983951 single base substitution A G intron_variant MELA-AU 1 44984011 44984011 single base substitution C T intron_variant MELA-AU 1 44984179 44984179 single base substitution G A intron_variant MELA-AU 1 44984240 44984240 single base substitution G A intron_variant MELA-AU 1 44984269 44984269 single base substitution C T intron_variant MELA-AU 1 44984652 44984652 single base substitution G A intron_variant MELA-AU 1 44984792 44984792 single base substitution G A intron_variant MELA-AU 1 44984810 44984810 single base substitution A G intron_variant MELA-AU 1 44985300 44985300 single base substitution C T intron_variant MELA-AU 1 44985307 44985307 single base substitution G A intron_variant MELA-AU 1 44985371 44985371 single base substitution C T intron_variant MELA-AU 1 44985448 44985448 single base substitution A G intron_variant MELA-AU 1 44985648 44985648 single base substitution G A intron_variant MELA-AU 1 44985708 44985708 single base substitution C T intron_variant MELA-AU 1 44985711 44985711 single base substitution C T intron_variant MELA-AU 1 44986227 44986227 single base substitution C T intron_variant MELA-AU 1 44986309 44986309 single base substitution C T intron_variant MELA-AU 1 44986798 44986798 single base substitution G A intron_variant MELA-AU 1 44986876 44986876 single base substitution A T intron_variant MELA-AU 1 44986920 44986920 single base substitution C T intron_variant MELA-AU 1 44987003 44987003 single base substitution G A intron_variant MELA-AU 1 44987026 44987026 single base substitution A G intron_variant MELA-AU 1 44987448 44987448 single base substitution G A intron_variant MELA-AU 1 44987613 44987613 single base substitution C T intron_variant MELA-AU 1 44987871 44987871 single base substitution G A intron_variant MELA-AU 1 44987949 44987949 single base substitution C T intron_variant MELA-AU 1 44987989 44987989 single base substitution G A intron_variant MELA-AU 1 44988319 44988319 single base substitution C T intron_variant MELA-AU 1 44988341 44988342 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 1 44988372 44988372 single base substitution G A intron_variant MELA-AU 1 44988784 44988784 single base substitution G A intron_variant MELA-AU 1 44988791 44988791 single base substitution C T intron_variant MELA-AU 1 44988856 44988857 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 44988959 44988959 single base substitution A C intron_variant MELA-AU 1 44989148 44989148 single base substitution G A intron_variant MELA-AU 1 44989342 44989342 single base substitution C T intron_variant MELA-AU 1 44989375 44989375 single base substitution G A intron_variant MELA-AU 1 44989700 44989700 single base substitution C T intron_variant MELA-AU 1 44989781 44989781 insertion of <=200bp - A intron_variant MELA-AU 1 44989805 44989806 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 44989824 44989824 single base substitution C T intron_variant MELA-AU 1 44989915 44989915 single base substitution G A intron_variant MELA-AU 1 44989963 44989963 single base substitution G A intron_variant MELA-AU 1 44990143 44990143 single base substitution C T intron_variant MELA-AU 1 44990180 44990180 single base substitution C T intron_variant MELA-AU 1 44990340 44990340 single base substitution C T intron_variant MELA-AU 1 44990363 44990363 single base substitution C T intron_variant MELA-AU 1 44990785 44990785 single base substitution G A intron_variant MELA-AU 1 44990945 44990945 single base substitution C T intron_variant MELA-AU 1 44991417 44991417 single base substitution G A intron_variant MELA-AU 1 44991675 44991675 single base substitution C T intron_variant MELA-AU 1 44991767 44991767 single base substitution C T intron_variant MELA-AU 1 44992057 44992057 single base substitution G A intron_variant MELA-AU 1 44992315 44992316 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 44992759 44992760 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 1 44992809 44992809 single base substitution C T intron_variant MELA-AU 1 44992878 44992878 single base substitution C T intron_variant MELA-AU 1 44993027 44993027 single base substitution C T intron_variant MELA-AU 1 44993036 44993036 single base substitution G A intron_variant MELA-AU 1 44993134 44993134 single base substitution G A intron_variant MELA-AU 1 44993395 44993395 single base substitution C T intron_variant MELA-AU 1 44993512 44993512 single base substitution C T intron_variant MELA-AU 1 44993525 44993525 single base substitution G A intron_variant MELA-AU 1 44994172 44994172 single base substitution C T intron_variant MELA-AU 1 44994205 44994205 single base substitution C T intron_variant MELA-AU 1 44994482 44994482 single base substitution C T intron_variant MELA-AU 1 44994721 44994721 single base substitution C T intron_variant MELA-AU 1 44994738 44994738 single base substitution C T intron_variant MELA-AU 1 44994739 44994739 single base substitution C T intron_variant MELA-AU 1 44994819 44994819 single base substitution C T intron_variant MELA-AU 1 44995110 44995110 single base substitution G A intron_variant MELA-AU 1 44995682 44995682 single base substitution T G intron_variant MELA-AU 1 44995740 44995740 single base substitution T A intron_variant MELA-AU 1 44995878 44995878 single base substitution G A intron_variant MELA-AU 1 44996009 44996009 single base substitution C T intron_variant MELA-AU 1 44996118 44996118 single base substitution G A intron_variant MELA-AU 1 44996348 44996348 single base substitution G A intron_variant MELA-AU 1 44996603 44996603 single base substitution C T intron_variant MELA-AU 1 44996790 44996790 single base substitution T A intron_variant MELA-AU 1 44996935 44996935 single base substitution C T intron_variant MELA-AU 1 44996939 44996940 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 44997040 44997040 single base substitution C T intron_variant MELA-AU 1 44997347 44997347 deletion of <=200bp C - intron_variant MELA-AU 1 44997421 44997421 single base substitution C T intron_variant MELA-AU 1 44997422 44997422 single base substitution C T intron_variant MELA-AU 1 44997785 44997785 single base substitution T C intron_variant MELA-AU 1 44998495 44998495 single base substitution G A intron_variant MELA-AU 1 44998707 44998707 single base substitution G A intron_variant MELA-AU 1 44998786 44998786 single base substitution A G intron_variant MELA-AU 1 44998984 44998984 single base substitution G A intron_variant MELA-AU 1 44999016 44999016 single base substitution G A intron_variant MELA-AU 1 44999392 44999392 single base substitution G A intron_variant MELA-AU 1 44999447 44999447 single base substitution G A intron_variant MELA-AU 1 44999486 44999486 single base substitution G A intron_variant MELA-AU 1 44999598 44999599 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 44999909 44999909 single base substitution C T intron_variant MELA-AU 1 45000105 45000105 single base substitution C T intron_variant MELA-AU 1 45000435 45000435 single base substitution C T intron_variant MELA-AU 1 45000722 45000722 single base substitution C T intron_variant MELA-AU 1 45000749 45000750 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 45000769 45000769 single base substitution C T intron_variant MELA-AU 1 45001072 45001072 single base substitution A T intron_variant MELA-AU 1 45001146 45001146 single base substitution C T intron_variant MELA-AU 1 45001462 45001462 single base substitution G A intron_variant MELA-AU 1 45001614 45001614 single base substitution C T intron_variant MELA-AU 1 45001722 45001722 single base substitution A G intron_variant MELA-AU 1 45001759 45001759 single base substitution G A intron_variant MELA-AU 1 45001864 45001864 single base substitution C T intron_variant MELA-AU 1 45001924 45001924 single base substitution G A intron_variant MELA-AU 1 45002126 45002126 single base substitution G A intron_variant MELA-AU 1 45002247 45002247 single base substitution C T intron_variant MELA-AU 1 45002267 45002267 single base substitution G A intron_variant MELA-AU 1 45002290 45002290 single base substitution C T intron_variant MELA-AU 1 45002583 45002583 single base substitution G A intron_variant MELA-AU 1 45002649 45002649 single base substitution C T intron_variant MELA-AU 1 45002971 45002971 single base substitution C A intron_variant MELA-AU 1 45002978 45002978 single base substitution C T intron_variant MELA-AU 1 45002981 45002981 single base substitution C T intron_variant MELA-AU 1 45002996 45002996 single base substitution C T intron_variant MELA-AU 1 45003020 45003020 single base substitution G A intron_variant MELA-AU 1 45003030 45003030 single base substitution C T intron_variant MELA-AU 1 45003095 45003095 single base substitution C T intron_variant MELA-AU 1 45003100 45003100 single base substitution A G intron_variant MELA-AU 1 45003185 45003185 single base substitution G A intron_variant MELA-AU 1 45003430 45003430 single base substitution C T intron_variant MELA-AU 1 45003444 45003444 single base substitution G A intron_variant MELA-AU 1 45003590 45003590 single base substitution C T intron_variant MELA-AU 1 45003723 45003723 single base substitution G A intron_variant MELA-AU 1 45003762 45003762 single base substitution G A intron_variant MELA-AU 1 45004009 45004009 single base substitution C T intron_variant MELA-AU 1 45004025 45004025 single base substitution C T intron_variant MELA-AU 1 45004190 45004190 single base substitution G A intron_variant MELA-AU 1 45004204 45004204 single base substitution G A intron_variant MELA-AU 1 45004385 45004385 single base substitution C T intron_variant MELA-AU 1 45004470 45004470 single base substitution C T intron_variant MELA-AU 1 45004925 45004925 single base substitution C T intron_variant MELA-AU 1 45005176 45005176 single base substitution G A intron_variant MELA-AU 1 45005263 45005263 single base substitution G A intron_variant MELA-AU 1 45005367 45005367 single base substitution C T intron_variant MELA-AU 1 45005514 45005514 single base substitution G A intron_variant MELA-AU 1 45005531 45005531 single base substitution C G intron_variant MELA-AU 1 45005653 45005653 single base substitution C T intron_variant MELA-AU 1 45005662 45005662 single base substitution C G intron_variant MELA-AU 1 45005920 45005920 single base substitution G A intron_variant MELA-AU 1 45006188 45006188 single base substitution G A intron_variant MELA-AU 1 45006212 45006212 single base substitution C T intron_variant MELA-AU 1 45006383 45006383 single base substitution A G intron_variant MELA-AU 1 45006542 45006542 single base substitution C T intron_variant MELA-AU 1 45006626 45006626 single base substitution G A intron_variant MELA-AU 1 45006847 45006847 single base substitution C T intron_variant MELA-AU 1 45007076 45007077 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 45007094 45007094 single base substitution C T intron_variant MELA-AU 1 45007113 45007113 single base substitution G A intron_variant MELA-AU 1 45007524 45007524 single base substitution C T intron_variant MELA-AU 1 45007531 45007531 single base substitution G T intron_variant MELA-AU 1 45007653 45007653 single base substitution G A intron_variant MELA-AU 1 45007676 45007677 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 45007704 45007704 single base substitution C T intron_variant MELA-AU 1 45008105 45008105 single base substitution T C intron_variant MELA-AU 1 45008133 45008133 single base substitution T C intron_variant MELA-AU 1 45008232 45008233 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 45008239 45008239 single base substitution G A intron_variant MELA-AU 1 45008365 45008366 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 45008509 45008509 single base substitution G A intron_variant MELA-AU 1 45008771 45008771 single base substitution C T intron_variant MELA-AU 1 45008809 45008809 single base substitution C T intron_variant MELA-AU 1 45009116 45009116 single base substitution C T intron_variant MELA-AU 1 45009234 45009234 single base substitution G A intron_variant MELA-AU 1 45009235 45009235 single base substitution G A intron_variant MELA-AU 1 45009942 45009942 single base substitution C T intron_variant MELA-AU 1 45009944 45009944 single base substitution C T intron_variant MELA-AU 1 45010029 45010029 single base substitution C T intron_variant MELA-AU 1 45010079 45010079 single base substitution C T intron_variant MELA-AU 1 45010121 45010121 single base substitution G A intron_variant MELA-AU 1 45010173 45010173 single base substitution G A intron_variant MELA-AU 1 45010448 45010448 single base substitution C T intron_variant MELA-AU 1 45010583 45010583 single base substitution G A intron_variant MELA-AU 1 45010739 45010739 single base substitution C T intron_variant MELA-AU 1 45010875 45010875 single base substitution G A intron_variant MELA-AU 1 45010943 45010943 single base substitution G A intron_variant MELA-AU 1 45011109 45011109 single base substitution C T intron_variant MELA-AU 1 45011137 45011137 single base substitution G A intron_variant MELA-AU 1 45011175 45011175 single base substitution G A intron_variant MELA-AU 1 45011190 45011190 single base substitution G A intron_variant MELA-AU 1 45011251 45011251 single base substitution G A intron_variant MELA-AU 1 45011261 45011261 single base substitution G A intron_variant MELA-AU 1 45011340 45011340 single base substitution G T intron_variant MELA-AU 1 45011346 45011346 single base substitution G A intron_variant MELA-AU 1 45011680 45011680 single base substitution G A intron_variant MELA-AU 1 45011724 45011724 single base substitution C T intron_variant MELA-AU 1 45011946 45011946 single base substitution C T intron_variant MELA-AU 1 45012419 45012419 single base substitution G A intron_variant MELA-AU 1 45012485 45012485 single base substitution C T intron_variant MELA-AU 1 45012611 45012616 deletion of <=200bp GATGAC - intron_variant MELA-AU 1 45012729 45012729 single base substitution C T intron_variant MELA-AU 1 45012790 45012790 single base substitution G A intron_variant MELA-AU 1 45012824 45012824 single base substitution G A intron_variant MELA-AU 1 45012869 45012869 single base substitution G A intron_variant MELA-AU 1 45012883 45012883 single base substitution C T intron_variant MELA-AU 1 45012961 45012961 single base substitution C T intron_variant MELA-AU 1 45012983 45012983 single base substitution C T intron_variant MELA-AU 1 45013063 45013063 single base substitution C A intron_variant MELA-AU 1 45013176 45013176 single base substitution C T intron_variant MELA-AU 1 45013362 45013362 single base substitution G A intron_variant MELA-AU 1 45013390 45013390 single base substitution C T intron_variant MELA-AU 1 45013447 45013447 single base substitution C T intron_variant MELA-AU 1 45013675 45013675 single base substitution C T intron_variant MELA-AU 1 45013756 45013756 single base substitution C T intron_variant MELA-AU 1 45013874 45013874 single base substitution C T intron_variant MELA-AU 1 45014179 45014179 single base substitution C T intron_variant MELA-AU 1 45014191 45014191 single base substitution G A intron_variant MELA-AU 1 45014259 45014259 single base substitution G A intron_variant MELA-AU 1 45014300 45014300 single base substitution G A intron_variant MELA-AU 1 45014620 45014620 single base substitution C T intron_variant MELA-AU 1 45014734 45014734 single base substitution C T intron_variant MELA-AU 1 45015109 45015109 single base substitution G A intron_variant MELA-AU 1 45015118 45015118 single base substitution C T intron_variant MELA-AU 1 45015216 45015216 single base substitution G A intron_variant MELA-AU 1 45015239 45015239 single base substitution C A intron_variant MELA-AU 1 45015271 45015271 single base substitution C T intron_variant MELA-AU 1 45015409 45015409 single base substitution G A intron_variant MELA-AU 1 45015423 45015423 single base substitution C T intron_variant MELA-AU 1 45015437 45015437 single base substitution C T intron_variant MELA-AU 1 45015498 45015498 single base substitution G A intron_variant MELA-AU 1 45015595 45015595 single base substitution C T intron_variant MELA-AU 1 45015709 45015709 single base substitution G A intron_variant MELA-AU 1 45015818 45015818 single base substitution G A intron_variant MELA-AU 1 45015858 45015858 single base substitution C T intron_variant MELA-AU 1 45015902 45015902 single base substitution G A intron_variant MELA-AU 1 45016017 45016017 single base substitution C T intron_variant MELA-AU 1 45016167 45016167 single base substitution G A intron_variant MELA-AU 1 45016308 45016308 single base substitution C T intron_variant MELA-AU 1 45016519 45016519 single base substitution C T intron_variant MELA-AU 1 45016575 45016575 single base substitution C T intron_variant MELA-AU 1 45016836 45016836 single base substitution G A intron_variant MELA-AU 1 45016873 45016873 single base substitution G A intron_variant MELA-AU 1 45016911 45016911 single base substitution C T intron_variant MELA-AU 1 45017083 45017083 single base substitution G A intron_variant MELA-AU 1 45017193 45017193 single base substitution G A intron_variant MELA-AU 1 45017309 45017309 single base substitution C T intron_variant MELA-AU 1 45018094 45018094 single base substitution G A intron_variant MELA-AU 1 45018376 45018376 single base substitution G A intron_variant MELA-AU 1 45019087 45019087 single base substitution T G intron_variant MELA-AU 1 45019866 45019866 single base substitution G A intron_variant MELA-AU 1 45019994 45019994 single base substitution G A intron_variant MELA-AU 1 45020001 45020001 single base substitution G A intron_variant MELA-AU 1 45020123 45020123 single base substitution C T intron_variant MELA-AU 1 45020318 45020318 single base substitution C T intron_variant MELA-AU 1 45020394 45020394 single base substitution G A intron_variant MELA-AU 1 45020752 45020752 single base substitution C A intron_variant MELA-AU 1 45020790 45020790 single base substitution G A intron_variant MELA-AU 1 45020960 45020960 single base substitution G A intron_variant MELA-AU 1 45021042 45021042 single base substitution C T intron_variant MELA-AU 1 45021086 45021086 single base substitution C T intron_variant MELA-AU 1 45021141 45021141 single base substitution G A intron_variant MELA-AU 1 45021210 45021210 single base substitution G A intron_variant MELA-AU 1 45021271 45021271 single base substitution G A intron_variant MELA-AU 1 45021448 45021448 single base substitution G A intron_variant MELA-AU 1 45022067 45022067 single base substitution C T intron_variant MELA-AU 1 45022260 45022260 single base substitution C A intron_variant MELA-AU 1 45022429 45022429 single base substitution C T intron_variant MELA-AU 1 45022541 45022541 single base substitution C T intron_variant MELA-AU 1 45022977 45022977 single base substitution G A intron_variant MELA-AU 1 45023095 45023095 single base substitution G A intron_variant MELA-AU 1 45023116 45023116 single base substitution G A intron_variant MELA-AU 1 45023200 45023200 single base substitution G A intron_variant MELA-AU 1 45023207 45023207 single base substitution C T intron_variant MELA-AU 1 45023277 45023277 single base substitution G A intron_variant MELA-AU 1 45023324 45023324 single base substitution C T intron_variant MELA-AU 1 45023503 45023503 single base substitution G A intron_variant MELA-AU 1 45024026 45024026 single base substitution C T intron_variant MELA-AU 1 45024367 45024367 single base substitution G A intron_variant MELA-AU 1 45024698 45024698 single base substitution G A intron_variant MELA-AU 1 45024992 45024992 single base substitution G A intron_variant MELA-AU 1 45025035 45025035 single base substitution C T intron_variant MELA-AU 1 45025196 45025196 single base substitution G A intron_variant MELA-AU 1 45025277 45025277 single base substitution C T intron_variant MELA-AU 1 45025446 45025446 single base substitution G A intron_variant MELA-AU 1 45025549 45025549 single base substitution A C intron_variant MELA-AU 1 45025564 45025564 single base substitution G A intron_variant MELA-AU 1 45025790 45025790 single base substitution C T intron_variant MELA-AU 1 45025829 45025829 single base substitution G A intron_variant MELA-AU 1 45026077 45026077 single base substitution C T intron_variant MELA-AU 1 45026490 45026490 single base substitution C T intron_variant MELA-AU 1 45026847 45026847 single base substitution T C intron_variant MELA-AU 1 45026960 45026960 single base substitution G A intron_variant MELA-AU 1 45027204 45027204 single base substitution G A intron_variant MELA-AU 1 45027280 45027280 single base substitution G A intron_variant MELA-AU 1 45027391 45027391 single base substitution C T intron_variant MELA-AU 1 45027698 45027698 single base substitution G A intron_variant MELA-AU 1 45027722 45027722 single base substitution C T intron_variant MELA-AU 1 45027729 45027729 single base substitution G A intron_variant MELA-AU 1 45027849 45027849 single base substitution G A intron_variant MELA-AU 1 45027909 45027909 single base substitution G A intron_variant MELA-AU 1 45027996 45027996 single base substitution C T intron_variant MELA-AU 1 45028164 45028164 single base substitution C T intron_variant MELA-AU 1 45028416 45028416 single base substitution G A intron_variant MELA-AU 1 45028629 45028629 single base substitution C T intron_variant MELA-AU 1 45028808 45028808 single base substitution G A intron_variant MELA-AU 1 45029050 45029050 single base substitution C T intron_variant MELA-AU 1 45029053 45029053 single base substitution C T intron_variant MELA-AU 1 45029150 45029150 single base substitution G A intron_variant MELA-AU 1 45029307 45029307 single base substitution C T intron_variant MELA-AU 1 45029480 45029480 single base substitution C T intron_variant MELA-AU 1 45029508 45029508 single base substitution C T intron_variant MELA-AU 1 45029514 45029514 single base substitution G A intron_variant MELA-AU 1 45029618 45029618 single base substitution G A intron_variant MELA-AU 1 45029691 45029691 single base substitution C T intron_variant MELA-AU 1 45029934 45029934 single base substitution G A intron_variant MELA-AU 1 45030134 45030134 single base substitution A G intron_variant MELA-AU 1 45030234 45030234 single base substitution G A intron_variant MELA-AU 1 45030243 45030243 single base substitution G A intron_variant MELA-AU 1 45030360 45030360 single base substitution G A intron_variant MELA-AU 1 45030515 45030515 single base substitution G A intron_variant MELA-AU 1 45030582 45030582 single base substitution C T intron_variant MELA-AU 1 45030583 45030583 single base substitution C T intron_variant MELA-AU 1 45030595 45030595 single base substitution G A intron_variant MELA-AU 1 45030962 45030962 single base substitution G A intron_variant MELA-AU 1 45030970 45030970 single base substitution G A intron_variant MELA-AU 1 45031255 45031255 single base substitution G A intron_variant MELA-AU 1 45031284 45031284 single base substitution C T intron_variant MELA-AU 1 45031390 45031390 single base substitution G A intron_variant MELA-AU 1 45031928 45031928 single base substitution C T intron_variant MELA-AU 1 45031989 45031989 single base substitution G A intron_variant MELA-AU 1 45032018 45032018 single base substitution G A intron_variant MELA-AU 1 45032041 45032041 single base substitution G A intron_variant MELA-AU 1 45032184 45032184 single base substitution C T intron_variant MELA-AU 1 45032199 45032199 single base substitution C T intron_variant MELA-AU 1 45032221 45032221 single base substitution C T intron_variant MELA-AU 1 45032252 45032252 single base substitution G A intron_variant MELA-AU 1 45032253 45032253 single base substitution G A intron_variant MELA-AU 1 45032305 45032305 single base substitution G A intron_variant MELA-AU 1 45032416 45032416 single base substitution C T intron_variant MELA-AU 1 45032581 45032581 single base substitution C T intron_variant MELA-AU 1 45032720 45032720 single base substitution G A intron_variant MELA-AU 1 45032748 45032748 single base substitution C T intron_variant MELA-AU 1 45033070 45033070 single base substitution C T intron_variant MELA-AU 1 45033223 45033223 single base substitution C T intron_variant MELA-AU 1 45033228 45033228 single base substitution C T intron_variant MELA-AU 1 45033347 45033347 single base substitution G A intron_variant MELA-AU 1 45033387 45033387 single base substitution C T intron_variant MELA-AU 1 45033482 45033482 single base substitution G A intron_variant MELA-AU 1 45033587 45033587 single base substitution G A intron_variant MELA-AU 1 45033766 45033766 single base substitution C T intron_variant MELA-AU 1 45033797 45033797 single base substitution C T intron_variant MELA-AU 1 45033910 45033910 single base substitution C T intron_variant MELA-AU 1 45034017 45034017 single base substitution A T intron_variant MELA-AU 1 45034084 45034084 single base substitution C T intron_variant MELA-AU 1 45034151 45034151 single base substitution G T intron_variant MELA-AU 1 45034408 45034408 single base substitution G A intron_variant MELA-AU 1 45034542 45034542 single base substitution C T intron_variant MELA-AU 1 45034834 45034834 single base substitution C T intron_variant MELA-AU 1 45034838 45034839 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 45034848 45034848 single base substitution G A intron_variant MELA-AU 1 45034900 45034900 single base substitution C T intron_variant MELA-AU 1 45034983 45034983 single base substitution C T intron_variant MELA-AU 1 45035030 45035030 single base substitution G A intron_variant MELA-AU 1 45035534 45035534 single base substitution C T intron_variant MELA-AU 1 45035643 45035643 single base substitution C T intron_variant MELA-AU 1 45035662 45035662 single base substitution C T intron_variant MELA-AU 1 45035714 45035714 single base substitution C T intron_variant MELA-AU 1 45035754 45035754 single base substitution G A intron_variant MELA-AU 1 45036415 45036415 single base substitution G A intron_variant MELA-AU 1 45036660 45036660 single base substitution C T intron_variant MELA-AU 1 45036683 45036683 single base substitution T C intron_variant MELA-AU 1 45036871 45036871 single base substitution C T intron_variant MELA-AU 1 45036878 45036878 single base substitution C T intron_variant MELA-AU 1 45036918 45036918 single base substitution C T intron_variant MELA-AU 1 45037020 45037020 single base substitution C T intron_variant MELA-AU 1 45037112 45037112 single base substitution C T intron_variant MELA-AU 1 45037372 45037372 single base substitution C T intron_variant MELA-AU 1 45037482 45037482 single base substitution C T intron_variant MELA-AU 1 45037669 45037669 single base substitution C T intron_variant MELA-AU 1 45037701 45037701 single base substitution C T intron_variant MELA-AU 1 45037897 45037897 single base substitution G A intron_variant MELA-AU 1 45038177 45038177 single base substitution C T intron_variant MELA-AU 1 45038266 45038266 single base substitution C T intron_variant MELA-AU 1 45038597 45038597 single base substitution C T intron_variant MELA-AU 1 45038921 45038921 single base substitution G A intron_variant MELA-AU 1 45039051 45039051 single base substitution G A intron_variant MELA-AU 1 45039089 45039089 single base substitution C T intron_variant MELA-AU 1 45039159 45039159 single base substitution C T intron_variant MELA-AU 1 45039190 45039190 single base substitution C T intron_variant MELA-AU 1 45039282 45039282 single base substitution G A intron_variant MELA-AU 1 45039328 45039328 single base substitution G A intron_variant MELA-AU 1 45039390 45039390 single base substitution G A intron_variant MELA-AU 1 45039479 45039479 single base substitution C T intron_variant MELA-AU 1 45039583 45039583 single base substitution C T intron_variant MELA-AU 1 45039611 45039611 single base substitution C T intron_variant MELA-AU 1 45039664 45039664 single base substitution C T intron_variant MELA-AU 1 45039791 45039791 single base substitution G A intron_variant MELA-AU 1 45039815 45039815 single base substitution G A intron_variant MELA-AU 1 45039898 45039898 single base substitution T G intron_variant MELA-AU 1 45039908 45039908 single base substitution C T intron_variant MELA-AU 1 45040659 45040659 single base substitution G A intron_variant MELA-AU 1 45040717 45040717 single base substitution G A intron_variant MELA-AU 1 45040728 45040728 single base substitution C T intron_variant MELA-AU 1 45041042 45041042 single base substitution A T intron_variant MELA-AU 1 45041209 45041209 single base substitution G A intron_variant MELA-AU 1 45041406 45041406 single base substitution G A intron_variant MELA-AU 1 45041695 45041695 single base substitution C T intron_variant MELA-AU 1 45041772 45041772 single base substitution C T intron_variant MELA-AU 1 45041956 45041956 single base substitution G A intron_variant MELA-AU 1 45042068 45042068 single base substitution C T intron_variant MELA-AU 1 45042374 45042374 single base substitution G A intron_variant MELA-AU 1 45042388 45042388 single base substitution G A intron_variant MELA-AU 1 45042399 45042399 single base substitution G A intron_variant MELA-AU 1 45042439 45042439 single base substitution C T intron_variant MELA-AU 1 45043043 45043043 single base substitution C T intron_variant MELA-AU 1 45043090 45043090 single base substitution C T intron_variant MELA-AU 1 45043102 45043102 single base substitution C T intron_variant MELA-AU 1 45043361 45043361 single base substitution G A intron_variant MELA-AU 1 45043693 45043693 single base substitution G A intron_variant MELA-AU 1 45043723 45043723 single base substitution C T intron_variant MELA-AU 1 45043751 45043751 single base substitution T A intron_variant MELA-AU 1 45043789 45043789 single base substitution G A intron_variant MELA-AU 1 45043914 45043915 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 45044036 45044036 single base substitution G A intron_variant MELA-AU 1 45044144 45044144 single base substitution G A intron_variant MELA-AU 1 45044161 45044161 single base substitution G A intron_variant MELA-AU 1 45044472 45044472 single base substitution A C intron_variant MELA-AU 1 45044586 45044586 single base substitution C T intron_variant MELA-AU 1 45044604 45044604 single base substitution G A intron_variant MELA-AU 1 45044659 45044659 single base substitution A C intron_variant MELA-AU 1 45044737 45044737 single base substitution G A intron_variant MELA-AU 1 45044821 45044821 single base substitution C T intron_variant MELA-AU 1 45045290 45045290 single base substitution G A intron_variant MELA-AU 1 45045309 45045309 single base substitution G A intron_variant MELA-AU 1 45045381 45045381 single base substitution C T intron_variant MELA-AU 1 45045407 45045407 single base substitution G A intron_variant MELA-AU 1 45045529 45045529 single base substitution C T intron_variant MELA-AU 1 45045918 45045918 single base substitution C T intron_variant MELA-AU 1 45045951 45045951 single base substitution C T intron_variant MELA-AU 1 45046025 45046025 single base substitution G A intron_variant MELA-AU 1 45046196 45046196 single base substitution G A intron_variant MELA-AU 1 45046236 45046236 single base substitution G A intron_variant MELA-AU 1 45046283 45046283 single base substitution G A intron_variant MELA-AU 1 45046335 45046335 single base substitution G A intron_variant MELA-AU 1 45046385 45046385 single base substitution G A intron_variant MELA-AU 1 45046481 45046481 single base substitution C T intron_variant MELA-AU 1 45046497 45046497 single base substitution C T intron_variant MELA-AU 1 45046563 45046563 single base substitution G C intron_variant MELA-AU 1 45046787 45046787 single base substitution C T intron_variant MELA-AU 1 45046814 45046814 single base substitution C T intron_variant MELA-AU 1 45046826 45046826 single base substitution C T intron_variant MELA-AU 1 45047053 45047053 single base substitution G A intron_variant MELA-AU 1 45047128 45047128 single base substitution A G intron_variant MELA-AU 1 45047159 45047159 single base substitution G A intron_variant MELA-AU 1 45047182 45047182 single base substitution G A intron_variant MELA-AU 1 45047312 45047312 single base substitution G A intron_variant MELA-AU 1 45047314 45047314 single base substitution G A intron_variant MELA-AU 1 45047332 45047332 single base substitution G A intron_variant MELA-AU 1 45047436 45047436 single base substitution G A intron_variant MELA-AU 1 45047534 45047534 single base substitution C T intron_variant MELA-AU 1 45047577 45047577 single base substitution G A intron_variant MELA-AU 1 45048223 45048223 single base substitution G A intron_variant MELA-AU 1 45048236 45048236 single base substitution C T intron_variant MELA-AU 1 45048249 45048249 single base substitution T C intron_variant MELA-AU 1 45048255 45048255 single base substitution C T intron_variant MELA-AU 1 45048383 45048383 single base substitution C T intron_variant MELA-AU 1 45048398 45048398 single base substitution C T intron_variant MELA-AU 1 45048454 45048454 single base substitution G A intron_variant MELA-AU 1 45048673 45048673 single base substitution C T intron_variant MELA-AU 1 45048888 45048889 deletion of <=200bp AT - intron_variant MELA-AU 1 45049225 45049225 single base substitution T G intron_variant MELA-AU 1 45049606 45049606 single base substitution G A intron_variant MELA-AU 1 45049641 45049641 single base substitution C A intron_variant MELA-AU 1 45049654 45049654 single base substitution C T intron_variant MELA-AU 1 45049950 45049950 single base substitution C T intron_variant MELA-AU 1 45050133 45050133 single base substitution G A intron_variant MELA-AU 1 45050812 45050812 single base substitution C T intron_variant MELA-AU 1 45051090 45051090 single base substitution G A intron_variant MELA-AU 1 45051427 45051427 single base substitution C T intron_variant MELA-AU 1 45051431 45051431 single base substitution A G intron_variant MELA-AU 1 45051434 45051434 single base substitution C T intron_variant MELA-AU 1 45051556 45051556 single base substitution T G intron_variant MELA-AU 1 45051682 45051683 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 45051710 45051710 single base substitution G A intron_variant MELA-AU 1 45051735 45051735 single base substitution G A intron_variant MELA-AU 1 45051823 45051823 single base substitution G A intron_variant MELA-AU 1 45051829 45051829 single base substitution G A intron_variant MELA-AU 1 45052099 45052100 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 1 45052104 45052104 single base substitution G A intron_variant MELA-AU 1 45052198 45052198 single base substitution G A intron_variant MELA-AU 1 45052222 45052222 single base substitution C T intron_variant MELA-AU 1 45052303 45052303 single base substitution G A intron_variant MELA-AU 1 45052446 45052446 single base substitution C T intron_variant MELA-AU 1 45052723 45052723 single base substitution T G intron_variant MELA-AU 1 45052725 45052725 single base substitution G C intron_variant MELA-AU 1 45052759 45052759 single base substitution T C intron_variant MELA-AU 1 45052844 45052844 single base substitution G A intron_variant MELA-AU 1 45052944 45052944 single base substitution C T intron_variant MELA-AU 1 45053147 45053147 single base substitution C T intron_variant MELA-AU 1 45053183 45053183 single base substitution G A intron_variant MELA-AU 1 45053213 45053213 single base substitution C T intron_variant MELA-AU 1 45053241 45053241 single base substitution G A intron_variant MELA-AU 1 45053442 45053442 single base substitution G A intron_variant MELA-AU 1 45053826 45053826 single base substitution C T intron_variant MELA-AU 1 45054087 45054087 single base substitution C T intron_variant MELA-AU 1 45054409 45054409 single base substitution C T intron_variant MELA-AU 1 45054446 45054446 single base substitution G A intron_variant MELA-AU 1 45054518 45054518 single base substitution C T intron_variant MELA-AU 1 45055069 45055069 single base substitution G A intron_variant MELA-AU 1 45055179 45055179 single base substitution G A intron_variant MELA-AU 1 45055310 45055310 single base substitution C T intron_variant MELA-AU 1 45055316 45055316 single base substitution C T intron_variant MELA-AU 1 45055367 45055367 single base substitution C T intron_variant MELA-AU 1 45055546 45055546 single base substitution C T intron_variant MELA-AU 1 45055561 45055561 single base substitution T G intron_variant MELA-AU 1 45055927 45055927 single base substitution C T intron_variant MELA-AU 1 45055972 45055972 single base substitution C T intron_variant MELA-AU 1 45055973 45055973 single base substitution C T intron_variant MELA-AU 1 45055980 45055980 single base substitution G A intron_variant MELA-AU 1 45056110 45056110 single base substitution C T intron_variant MELA-AU 1 45056757 45056757 single base substitution C T intron_variant MELA-AU 1 45057174 45057174 single base substitution G C intron_variant MELA-AU 1 45057647 45057647 single base substitution C T intron_variant MELA-AU 1 45057707 45057708 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 45057712 45057712 single base substitution G A intron_variant MELA-AU 1 45057755 45057755 single base substitution G A intron_variant MELA-AU 1 45057794 45057794 single base substitution G A intron_variant MELA-AU 1 45057829 45057829 single base substitution G A intron_variant MELA-AU 1 45057887 45057887 single base substitution C T intron_variant MELA-AU 1 45058411 45058411 single base substitution G A intron_variant MELA-AU 1 45058574 45058574 single base substitution G A intron_variant MELA-AU 1 45058585 45058585 single base substitution G A intron_variant MELA-AU 1 45058789 45058789 single base substitution C T intron_variant MELA-AU 1 45058824 45058824 single base substitution G A intron_variant MELA-AU 1 45058866 45058866 single base substitution C T intron_variant MELA-AU 1 45058913 45058913 single base substitution C T intron_variant MELA-AU 1 45059331 45059331 single base substitution G A intron_variant MELA-AU 1 45059951 45059951 single base substitution C T intron_variant MELA-AU 1 45059975 45059975 single base substitution C T intron_variant MELA-AU 1 45059997 45059997 single base substitution C T intron_variant MELA-AU 1 45059999 45059999 single base substitution C T intron_variant MELA-AU 1 45060016 45060016 single base substitution G A intron_variant MELA-AU 1 45060041 45060041 single base substitution C T intron_variant MELA-AU 1 45060108 45060108 single base substitution G A intron_variant MELA-AU 1 45060210 45060210 single base substitution C T intron_variant MELA-AU 1 45060444 45060444 single base substitution G A intron_variant MELA-AU 1 45061122 45061122 single base substitution G A intron_variant MELA-AU 1 45061155 45061155 single base substitution A C intron_variant MELA-AU 1 45061450 45061450 single base substitution T C intron_variant MELA-AU 1 45061653 45061653 single base substitution G A intron_variant MELA-AU 1 45061693 45061693 single base substitution C T intron_variant MELA-AU 1 45061729 45061729 single base substitution C T intron_variant MELA-AU 1 45061779 45061779 single base substitution G A intron_variant MELA-AU 1 45061797 45061797 single base substitution G A intron_variant MELA-AU 1 45061931 45061931 single base substitution G A intron_variant MELA-AU 1 45062159 45062159 single base substitution G A intron_variant MELA-AU 1 45062208 45062208 single base substitution G A intron_variant MELA-AU 1 45062335 45062335 single base substitution G A intron_variant MELA-AU 1 45062456 45062456 single base substitution C T intron_variant MELA-AU 1 45062640 45062640 single base substitution G A intron_variant MELA-AU 1 45062650 45062650 single base substitution G A intron_variant MELA-AU 1 45062707 45062707 single base substitution G T intron_variant MELA-AU 1 45063246 45063246 single base substitution C T intron_variant MELA-AU 1 45063497 45063497 single base substitution C T intron_variant MELA-AU 1 45063630 45063630 single base substitution C T intron_variant MELA-AU 1 45063753 45063753 single base substitution G A intron_variant MELA-AU 1 45063846 45063846 single base substitution G A intron_variant MELA-AU 1 45063875 45063875 single base substitution C G intron_variant MELA-AU 1 45063945 45063945 single base substitution A C intron_variant MELA-AU 1 45064053 45064053 single base substitution G A intron_variant MELA-AU 1 45064062 45064062 single base substitution G A intron_variant MELA-AU 1 45064063 45064063 single base substitution G A intron_variant MELA-AU 1 45064075 45064075 single base substitution C T intron_variant MELA-AU 1 45064086 45064086 single base substitution G A intron_variant MELA-AU 1 45064267 45064268 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 1 45064329 45064329 single base substitution G A intron_variant MELA-AU 1 45064484 45064484 single base substitution C T intron_variant MELA-AU 1 45064601 45064601 single base substitution C T intron_variant MELA-AU 1 45064661 45064661 single base substitution C T intron_variant MELA-AU 1 45064693 45064693 single base substitution C T intron_variant MELA-AU 1 45064851 45064851 single base substitution G A intron_variant MELA-AU 1 45065094 45065094 single base substitution C T intron_variant MELA-AU 1 45065111 45065111 single base substitution G A intron_variant MELA-AU 1 45065880 45065880 single base substitution G A intron_variant MELA-AU 1 45065977 45065977 single base substitution G A intron_variant MELA-AU 1 45066132 45066132 single base substitution C T intron_variant MELA-AU 1 45066595 45066595 single base substitution C T intron_variant MELA-AU 1 45066814 45066814 single base substitution A G intron_variant MELA-AU 1 45066990 45066990 single base substitution C T intron_variant MELA-AU 1 45067299 45067299 single base substitution G A intron_variant MELA-AU 1 45067314 45067314 single base substitution G A intron_variant MELA-AU 1 45067371 45067371 single base substitution G A intron_variant MELA-AU 1 45067527 45067527 single base substitution G A intron_variant MELA-AU 1 45067695 45067695 single base substitution T A intron_variant MELA-AU 1 45067768 45067768 single base substitution C T intron_variant MELA-AU 1 45067788 45067788 single base substitution T C intron_variant MELA-AU 1 45067916 45067916 single base substitution G A intron_variant MELA-AU 1 45067968 45067968 single base substitution C T intron_variant MELA-AU 1 45068170 45068170 single base substitution C T intron_variant MELA-AU 1 45068187 45068187 single base substitution C T intron_variant MELA-AU 1 45068327 45068327 single base substitution C T intron_variant MELA-AU 1 45068791 45068791 single base substitution G A intron_variant MELA-AU 1 45068815 45068815 single base substitution C T intron_variant MELA-AU 1 45069025 45069025 single base substitution G A intron_variant MELA-AU 1 45069103 45069103 single base substitution G A intron_variant MELA-AU 1 45069167 45069167 single base substitution C T intron_variant MELA-AU 1 45069260 45069260 single base substitution C T intron_variant MELA-AU 1 45069420 45069420 single base substitution C T intron_variant MELA-AU 1 45069601 45069601 single base substitution C T intron_variant MELA-AU 1 45070510 45070510 single base substitution C T intron_variant MELA-AU 1 45070768 45070768 single base substitution C T intron_variant MELA-AU 1 45070962 45070962 single base substitution C T intron_variant MELA-AU 1 45070997 45070997 single base substitution A T intron_variant MELA-AU 1 45071075 45071075 single base substitution C T intron_variant MELA-AU 1 45071224 45071224 single base substitution G A intron_variant MELA-AU 1 45071400 45071400 single base substitution G A intron_variant MELA-AU 1 45071470 45071470 single base substitution C T intron_variant MELA-AU 1 45071614 45071614 single base substitution C T intron_variant MELA-AU 1 45072062 45072062 single base substitution G A intron_variant MELA-AU 1 45072738 45072738 single base substitution C T intron_variant MELA-AU 1 45072882 45072882 single base substitution C T intron_variant MELA-AU 1 45073249 45073249 single base substitution C T intron_variant MELA-AU 1 45073285 45073285 single base substitution G A intron_variant MELA-AU 1 45073429 45073429 single base substitution G A intron_variant MELA-AU 1 45073438 45073438 single base substitution G A intron_variant MELA-AU 1 45074012 45074012 single base substitution G A intron_variant MELA-AU 1 45074095 45074095 single base substitution G A intron_variant MELA-AU 1 45074144 45074144 single base substitution G A intron_variant MELA-AU 1 45074466 45074466 single base substitution C T intron_variant MELA-AU 1 45074799 45074799 single base substitution G A intron_variant MELA-AU 1 45074823 45074823 single base substitution G A intron_variant MELA-AU 1 45074971 45074971 single base substitution G A intron_variant MELA-AU 1 45074971 45074971 single base substitution G A upstream_gene_variant MELA-AU 1 45075043 45075043 single base substitution G A intron_variant MELA-AU 1 45075043 45075043 single base substitution G A upstream_gene_variant MELA-AU 1 45075072 45075072 single base substitution G A intron_variant MELA-AU 1 45075072 45075072 single base substitution G A upstream_gene_variant MELA-AU 1 45075241 45075241 single base substitution G A intron_variant MELA-AU 1 45075241 45075241 single base substitution G A upstream_gene_variant MELA-AU 1 45075808 45075808 single base substitution G A intron_variant MELA-AU 1 45075808 45075808 single base substitution G A upstream_gene_variant MELA-AU 1 45075944 45075944 single base substitution C T intron_variant MELA-AU 1 45075944 45075944 single base substitution C T upstream_gene_variant MELA-AU 1 45075985 45075985 single base substitution G A intron_variant MELA-AU 1 45075985 45075985 single base substitution G A upstream_gene_variant MELA-AU 1 45076065 45076065 single base substitution C T intron_variant MELA-AU 1 45076065 45076065 single base substitution C T upstream_gene_variant MELA-AU 1 45076073 45076073 single base substitution T C intron_variant MELA-AU 1 45076073 45076073 single base substitution T C upstream_gene_variant MELA-AU 1 45076188 45076188 single base substitution C T intron_variant MELA-AU 1 45076188 45076188 single base substitution C T upstream_gene_variant MELA-AU 1 45076554 45076554 single base substitution C T intron_variant MELA-AU 1 45076554 45076554 single base substitution C T upstream_gene_variant MELA-AU 1 45076572 45076572 single base substitution C T intron_variant MELA-AU 1 45076572 45076572 single base substitution C T upstream_gene_variant MELA-AU 1 45076860 45076860 single base substitution G T intron_variant MELA-AU 1 45076860 45076860 single base substitution G T upstream_gene_variant MELA-AU 1 45076929 45076929 single base substitution G A intron_variant MELA-AU 1 45076929 45076929 single base substitution G A upstream_gene_variant MELA-AU 1 45077089 45077089 single base substitution G A intron_variant MELA-AU 1 45077089 45077089 single base substitution G A upstream_gene_variant MELA-AU 1 45077251 45077251 single base substitution C T intron_variant MELA-AU 1 45077251 45077251 single base substitution C T upstream_gene_variant MELA-AU 1 45077306 45077306 single base substitution C A intron_variant MELA-AU 1 45077306 45077306 single base substitution C A upstream_gene_variant MELA-AU 1 45077341 45077341 single base substitution C T intron_variant MELA-AU 1 45077341 45077341 single base substitution C T upstream_gene_variant MELA-AU 1 45077706 45077706 single base substitution C G intron_variant MELA-AU 1 45077706 45077706 single base substitution C G upstream_gene_variant MELA-AU 1 45077861 45077861 single base substitution C T intron_variant MELA-AU 1 45077861 45077861 single base substitution C T upstream_gene_variant MELA-AU 1 45078088 45078088 single base substitution G A intron_variant MELA-AU 1 45078088 45078088 single base substitution G A upstream_gene_variant MELA-AU 1 45078098 45078098 single base substitution C T intron_variant MELA-AU 1 45078098 45078098 single base substitution C T upstream_gene_variant MELA-AU 1 45078275 45078275 single base substitution T C intron_variant MELA-AU 1 45078275 45078275 single base substitution T C upstream_gene_variant MELA-AU 1 45078570 45078571 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 45078570 45078571 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 45078841 45078841 single base substitution C T intron_variant MELA-AU 1 45078841 45078841 single base substitution C T upstream_gene_variant MELA-AU 1 45079192 45079192 single base substitution C T intron_variant MELA-AU 1 45079192 45079192 single base substitution C T upstream_gene_variant MELA-AU 1 45079569 45079569 single base substitution A T intron_variant MELA-AU 1 45079569 45079569 single base substitution A T upstream_gene_variant MELA-AU 1 45079583 45079583 single base substitution T A intron_variant MELA-AU 1 45079583 45079583 single base substitution T A upstream_gene_variant MELA-AU 1 45079667 45079667 single base substitution G A intron_variant MELA-AU 1 45079667 45079667 single base substitution G A upstream_gene_variant MELA-AU 1 45079669 45079669 single base substitution A G intron_variant MELA-AU 1 45079669 45079669 single base substitution A G upstream_gene_variant MELA-AU 1 45079705 45079705 single base substitution C T intron_variant MELA-AU 1 45079705 45079705 single base substitution C T upstream_gene_variant MELA-AU 1 45079841 45079841 single base substitution G A 5_prime_UTR_variant MELA-AU 1 45079841 45079841 single base substitution G A synonymous_variant K210K 630G>A MELA-AU 1 45079841 45079841 single base substitution G A upstream_gene_variant MELA-AU 1 45080099 45080099 single base substitution C T intron_variant MELA-AU 1 45080191 45080191 single base substitution C T intron_variant MELA-AU 1 45080463 45080463 single base substitution C T intron_variant MELA-AU 1 45081046 45081046 single base substitution G A intron_variant MELA-AU 1 45081131 45081131 single base substitution G A intron_variant MELA-AU 1 45081599 45081599 single base substitution C T intron_variant MELA-AU 1 45081601 45081601 single base substitution C T intron_variant MELA-AU 1 45082121 45082121 single base substitution C A intron_variant MELA-AU 1 45082157 45082157 single base substitution G A intron_variant MELA-AU 1 45082378 45082378 single base substitution A G intron_variant MELA-AU 1 45082776 45082776 single base substitution C T intron_variant MELA-AU 1 45083033 45083033 single base substitution C T intron_variant MELA-AU 1 45083428 45083428 single base substitution G A intron_variant MELA-AU 1 45083542 45083543 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 45083896 45083897 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 45083973 45083973 single base substitution C T intron_variant MELA-AU 1 45084002 45084002 single base substitution A T intron_variant MELA-AU 1 45084433 45084433 single base substitution G A intron_variant MELA-AU 1 45084435 45084435 single base substitution G A intron_variant MELA-AU 1 45084786 45084786 single base substitution G A intron_variant MELA-AU 1 45084816 45084816 single base substitution C T intron_variant MELA-AU 1 45085184 45085184 single base substitution C T intron_variant MELA-AU 1 45085215 45085215 single base substitution G A intron_variant MELA-AU 1 45085218 45085218 single base substitution T G intron_variant MELA-AU 1 45085233 45085233 single base substitution C T intron_variant MELA-AU 1 45085289 45085289 single base substitution C T intron_variant MELA-AU 1 45085315 45085315 single base substitution C T intron_variant MELA-AU 1 45085457 45085457 single base substitution C T intron_variant MELA-AU 1 45085579 45085579 single base substitution C T intron_variant MELA-AU 1 45086007 45086007 single base substitution C T intron_variant MELA-AU 1 45086239 45086239 single base substitution C T intron_variant MELA-AU 1 45086857 45086857 single base substitution G A intron_variant MELA-AU 1 45087122 45087122 single base substitution G A intron_variant MELA-AU 1 45087122 45087122 single base substitution G A upstream_gene_variant MELA-AU 1 45087193 45087193 single base substitution C T intron_variant MELA-AU 1 45087193 45087193 single base substitution C T upstream_gene_variant MELA-AU 1 45087261 45087261 single base substitution C T intron_variant MELA-AU 1 45087261 45087261 single base substitution C T upstream_gene_variant MELA-AU 1 45087262 45087262 single base substitution C T intron_variant MELA-AU 1 45087262 45087262 single base substitution C T upstream_gene_variant MELA-AU 1 45087361 45087361 single base substitution G A intron_variant MELA-AU 1 45087361 45087361 single base substitution G A upstream_gene_variant MELA-AU 1 45087392 45087392 single base substitution C T intron_variant MELA-AU 1 45087392 45087392 single base substitution C T upstream_gene_variant MELA-AU 1 45087457 45087457 single base substitution C T intron_variant MELA-AU 1 45087457 45087457 single base substitution C T upstream_gene_variant MELA-AU 1 45087605 45087606 deletion of <=200bp CA - intron_variant MELA-AU 1 45087605 45087606 deletion of <=200bp CA - upstream_gene_variant MELA-AU 1 45087626 45087626 single base substitution G A intron_variant MELA-AU 1 45087626 45087626 single base substitution G A upstream_gene_variant MELA-AU 1 45088084 45088084 single base substitution G A intron_variant MELA-AU 1 45088084 45088084 single base substitution G A upstream_gene_variant MELA-AU 1 45088446 45088446 single base substitution C T exon_variant MELA-AU 1 45088446 45088446 single base substitution C T missense_variant P25L 74C>T MELA-AU 1 45088446 45088446 single base substitution C T missense_variant P264L 791C>T MELA-AU 1 45088446 45088446 single base substitution C T upstream_gene_variant MELA-AU 1 45088616 45088616 single base substitution G A intron_variant MELA-AU 1 45088616 45088616 single base substitution G A upstream_gene_variant MELA-AU 1 45088827 45088827 single base substitution A G intron_variant MELA-AU 1 45088827 45088827 single base substitution A G upstream_gene_variant MELA-AU 1 45088929 45088929 single base substitution G A intron_variant MELA-AU 1 45088929 45088929 single base substitution G A upstream_gene_variant MELA-AU 1 45089547 45089547 single base substitution G A intron_variant MELA-AU 1 45089547 45089547 single base substitution G A upstream_gene_variant MELA-AU 1 45089620 45089620 single base substitution G A intron_variant MELA-AU 1 45089620 45089620 single base substitution G A upstream_gene_variant MELA-AU 1 45089651 45089651 single base substitution C T intron_variant MELA-AU 1 45089651 45089651 single base substitution C T upstream_gene_variant MELA-AU 1 45089923 45089923 single base substitution G A intron_variant MELA-AU 1 45089923 45089923 single base substitution G A upstream_gene_variant MELA-AU 1 45090208 45090208 single base substitution C T intron_variant MELA-AU 1 45090208 45090208 single base substitution C T upstream_gene_variant MELA-AU 1 45090288 45090288 single base substitution C T intron_variant MELA-AU 1 45090288 45090288 single base substitution C T upstream_gene_variant MELA-AU 1 45090343 45090343 single base substitution G A intron_variant MELA-AU 1 45090343 45090343 single base substitution G A upstream_gene_variant MELA-AU 1 45090362 45090362 single base substitution G A intron_variant MELA-AU 1 45090362 45090362 single base substitution G A upstream_gene_variant MELA-AU 1 45090461 45090461 single base substitution C T intron_variant MELA-AU 1 45090461 45090461 single base substitution C T upstream_gene_variant MELA-AU 1 45090994 45090994 single base substitution G A intron_variant MELA-AU 1 45090994 45090994 single base substitution G A upstream_gene_variant MELA-AU 1 45091343 45091343 single base substitution A G intron_variant MELA-AU 1 45091343 45091343 single base substitution A G upstream_gene_variant MELA-AU 1 45091793 45091793 single base substitution C T intron_variant MELA-AU 1 45091793 45091793 single base substitution C T upstream_gene_variant MELA-AU 1 45091998 45091998 single base substitution G A 5_prime_UTR_variant MELA-AU 1 45091998 45091998 single base substitution G A exon_variant MELA-AU 1 45091998 45091998 single base substitution G A synonymous_variant R278R 834G>A MELA-AU 1 45091998 45091998 single base substitution G A synonymous_variant R39R 117G>A MELA-AU 1 45092196 45092196 single base substitution C T exon_variant MELA-AU 1 45092196 45092196 single base substitution C T intron_variant MELA-AU 1 45092325 45092325 single base substitution C T exon_variant MELA-AU 1 45092325 45092325 single base substitution C T intron_variant MELA-AU 1 45092883 45092883 single base substitution G A downstream_gene_variant MELA-AU 1 45092883 45092883 single base substitution G A intron_variant MELA-AU 1 45092883 45092883 single base substitution G A upstream_gene_variant MELA-AU 1 45093245 45093245 single base substitution G A downstream_gene_variant MELA-AU 1 45093245 45093245 single base substitution G A intron_variant MELA-AU 1 45093245 45093245 single base substitution G A upstream_gene_variant MELA-AU 1 45093522 45093522 single base substitution C T downstream_gene_variant MELA-AU 1 45093522 45093522 single base substitution C T intron_variant MELA-AU 1 45093522 45093522 single base substitution C T upstream_gene_variant MELA-AU 1 45093531 45093531 single base substitution C T downstream_gene_variant MELA-AU 1 45093531 45093531 single base substitution C T intron_variant MELA-AU 1 45093531 45093531 single base substitution C T upstream_gene_variant MELA-AU 1 45093775 45093775 single base substitution G A downstream_gene_variant MELA-AU 1 45093775 45093775 single base substitution G A intron_variant MELA-AU 1 45093775 45093775 single base substitution G A upstream_gene_variant MELA-AU 1 45093921 45093921 single base substitution G A downstream_gene_variant MELA-AU 1 45093921 45093921 single base substitution G A intron_variant MELA-AU 1 45093921 45093921 single base substitution G A upstream_gene_variant MELA-AU 1 45093969 45093969 single base substitution C T downstream_gene_variant MELA-AU 1 45093969 45093969 single base substitution C T intron_variant MELA-AU 1 45093969 45093969 single base substitution C T upstream_gene_variant MELA-AU 1 45094531 45094531 single base substitution C T downstream_gene_variant MELA-AU 1 45094531 45094531 single base substitution C T intron_variant MELA-AU 1 45094531 45094531 single base substitution C T upstream_gene_variant MELA-AU 1 45094547 45094547 single base substitution C T downstream_gene_variant MELA-AU 1 45094547 45094547 single base substitution C T intron_variant MELA-AU 1 45094547 45094547 single base substitution C T upstream_gene_variant MELA-AU 1 45094967 45094967 single base substitution G A downstream_gene_variant MELA-AU 1 45094967 45094967 single base substitution G A intron_variant MELA-AU 1 45094967 45094967 single base substitution G A upstream_gene_variant MELA-AU 1 45095500 45095500 single base substitution G A downstream_gene_variant MELA-AU 1 45095500 45095500 single base substitution G A intron_variant MELA-AU 1 45095500 45095500 single base substitution G A upstream_gene_variant MELA-AU 1 45095780 45095780 single base substitution T A downstream_gene_variant MELA-AU 1 45095780 45095780 single base substitution T A intron_variant MELA-AU 1 45095780 45095780 single base substitution T A upstream_gene_variant MELA-AU 1 45095801 45095801 single base substitution G A downstream_gene_variant MELA-AU 1 45095801 45095801 single base substitution G A intron_variant MELA-AU 1 45095801 45095801 single base substitution G A upstream_gene_variant MELA-AU 1 45096108 45096108 single base substitution C T downstream_gene_variant MELA-AU 1 45096108 45096108 single base substitution C T intron_variant MELA-AU 1 45096108 45096108 single base substitution C T upstream_gene_variant MELA-AU 1 45096151 45096151 single base substitution C T downstream_gene_variant MELA-AU 1 45096151 45096151 single base substitution C T intron_variant MELA-AU 1 45096151 45096151 single base substitution C T upstream_gene_variant MELA-AU 1 45096299 45096299 single base substitution G A downstream_gene_variant MELA-AU 1 45096299 45096299 single base substitution G A intron_variant MELA-AU 1 45096299 45096299 single base substitution G A upstream_gene_variant MELA-AU 1 45096674 45096674 single base substitution G A downstream_gene_variant MELA-AU 1 45096674 45096674 single base substitution G A intron_variant MELA-AU 1 45096674 45096674 single base substitution G A upstream_gene_variant MELA-AU 1 45097422 45097422 single base substitution G A 5_prime_UTR_variant MELA-AU 1 45097422 45097422 single base substitution G A downstream_gene_variant MELA-AU 1 45097422 45097422 single base substitution G A intron_variant MELA-AU 1 45097422 45097422 single base substitution G A upstream_gene_variant MELA-AU 1 45097454 45097454 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 45097454 45097454 single base substitution G A downstream_gene_variant MELA-AU 1 45097454 45097454 single base substitution G A intron_variant MELA-AU 1 45097454 45097454 single base substitution G A upstream_gene_variant MELA-AU 1 45097641 45097641 single base substitution G A 5_prime_UTR_variant MELA-AU 1 45097641 45097641 single base substitution G A downstream_gene_variant MELA-AU 1 45097641 45097641 single base substitution G A exon_variant MELA-AU 1 45097641 45097641 single base substitution G A intron_variant MELA-AU 1 45097641 45097641 single base substitution G A upstream_gene_variant MELA-AU 1 45097737 45097737 single base substitution G A 5_prime_UTR_variant MELA-AU 1 45097737 45097737 single base substitution G A exon_variant MELA-AU 1 45097737 45097737 single base substitution G A intron_variant MELA-AU 1 45097737 45097737 single base substitution G A upstream_gene_variant MELA-AU 1 45098191 45098191 single base substitution G A intron_variant MELA-AU 1 45098191 45098191 single base substitution G A upstream_gene_variant MELA-AU 1 45100229 45100229 single base substitution C T intron_variant MELA-AU 1 45100229 45100229 single base substitution C T upstream_gene_variant MELA-AU 1 45100584 45100584 single base substitution C T intron_variant MELA-AU 1 45100584 45100584 single base substitution C T upstream_gene_variant MELA-AU 1 45101830 45101831 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 1 45101830 45101831 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 45101830 45101831 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 45101830 45101831 multiple base substitution (>=2bp and <=200bp) CC TT stop_gained FR116F* MELA-AU 1 45101830 45101831 multiple base substitution (>=2bp and <=200bp) CC TT stop_gained FR161F* MELA-AU 1 45101830 45101831 multiple base substitution (>=2bp and <=200bp) CC TT stop_gained FR374F* MELA-AU 1 45101830 45101831 multiple base substitution (>=2bp and <=200bp) CC TT stop_gained FR90F* MELA-AU 1 45101830 45101831 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 45101881 45101881 single base substitution C T 3_prime_UTR_variant MELA-AU 1 45101881 45101881 single base substitution C T downstream_gene_variant MELA-AU 1 45101881 45101881 single base substitution C T intron_variant MELA-AU 1 45101881 45101881 single base substitution C T upstream_gene_variant MELA-AU 1 45101896 45101896 single base substitution C T 3_prime_UTR_variant MELA-AU 1 45101896 45101896 single base substitution C T downstream_gene_variant MELA-AU 1 45101896 45101896 single base substitution C T intron_variant MELA-AU 1 45101896 45101896 single base substitution C T upstream_gene_variant MELA-AU 1 45102388 45102388 single base substitution C T downstream_gene_variant MELA-AU 1 45102388 45102388 single base substitution C T intron_variant MELA-AU 1 45102388 45102388 single base substitution C T upstream_gene_variant MELA-AU 1 45103341 45103341 single base substitution C T downstream_gene_variant MELA-AU 1 45103341 45103341 single base substitution C T intron_variant MELA-AU 1 45103341 45103341 single base substitution C T upstream_gene_variant MELA-AU 1 45103711 45103711 single base substitution C T downstream_gene_variant MELA-AU 1 45103711 45103711 single base substitution C T intron_variant MELA-AU 1 45103711 45103711 single base substitution C T upstream_gene_variant MELA-AU 1 45103851 45103851 single base substitution G A downstream_gene_variant MELA-AU 1 45103851 45103851 single base substitution G A intron_variant MELA-AU 1 45103851 45103851 single base substitution G A upstream_gene_variant MELA-AU 1 45104248 45104248 single base substitution A G downstream_gene_variant MELA-AU 1 45104248 45104248 single base substitution A G intron_variant MELA-AU 1 45104248 45104248 single base substitution A G upstream_gene_variant MELA-AU 1 45104499 45104499 single base substitution C T downstream_gene_variant MELA-AU 1 45104499 45104499 single base substitution C T intron_variant MELA-AU 1 45104499 45104499 single base substitution C T upstream_gene_variant MELA-AU 1 45106435 45106435 single base substitution G T downstream_gene_variant MELA-AU 1 45106435 45106435 single base substitution G T intron_variant MELA-AU 1 45106435 45106435 single base substitution G T upstream_gene_variant MELA-AU 1 45106825 45106826 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 45106825 45106826 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 45106825 45106826 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 45107244 45107244 single base substitution C T intron_variant MELA-AU 1 45107244 45107244 single base substitution C T upstream_gene_variant MELA-AU 1 45107706 45107706 single base substitution C T intron_variant MELA-AU 1 45107706 45107706 single base substitution C T upstream_gene_variant MELA-AU 1 45110175 45110175 single base substitution G A exon_variant MELA-AU 1 45110175 45110175 single base substitution G A intron_variant MELA-AU 1 45110175 45110175 single base substitution G A upstream_gene_variant MELA-AU 1 45110311 45110311 single base substitution G T exon_variant MELA-AU 1 45110311 45110311 single base substitution G T intron_variant MELA-AU 1 45110311 45110311 single base substitution G T upstream_gene_variant MELA-AU 1 45111250 45111250 single base substitution C T downstream_gene_variant MELA-AU 1 45111250 45111250 single base substitution C T intron_variant MELA-AU 1 45111250 45111250 single base substitution C T upstream_gene_variant MELA-AU 1 45111431 45111431 single base substitution C T downstream_gene_variant MELA-AU 1 45111431 45111431 single base substitution C T intron_variant MELA-AU 1 45111431 45111431 single base substitution C T upstream_gene_variant MELA-AU 1 45111488 45111488 single base substitution C T downstream_gene_variant MELA-AU 1 45111488 45111488 single base substitution C T intron_variant MELA-AU 1 45111488 45111488 single base substitution C T upstream_gene_variant MELA-AU 1 45111640 45111640 single base substitution A G downstream_gene_variant MELA-AU 1 45111640 45111640 single base substitution A G intron_variant MELA-AU 1 45111640 45111640 single base substitution A G upstream_gene_variant MELA-AU 1 45111954 45111954 single base substitution G A downstream_gene_variant MELA-AU 1 45111954 45111954 single base substitution G A intron_variant MELA-AU 1 45111954 45111954 single base substitution G A upstream_gene_variant MELA-AU 1 45112211 45112211 single base substitution C T downstream_gene_variant MELA-AU 1 45112211 45112211 single base substitution C T intron_variant MELA-AU 1 45112211 45112211 single base substitution C T upstream_gene_variant MELA-AU 1 45113105 45113105 single base substitution G A downstream_gene_variant MELA-AU 1 45113105 45113105 single base substitution G A intron_variant MELA-AU 1 45113105 45113105 single base substitution G A upstream_gene_variant MELA-AU 1 45113588 45113588 single base substitution C T downstream_gene_variant MELA-AU 1 45113588 45113588 single base substitution C T intron_variant MELA-AU 1 45113588 45113588 single base substitution C T upstream_gene_variant MELA-AU 1 45114388 45114388 single base substitution G A downstream_gene_variant MELA-AU 1 45114388 45114388 single base substitution G A exon_variant MELA-AU 1 45114388 45114388 single base substitution G A intron_variant MELA-AU 1 45114688 45114688 single base substitution G A downstream_gene_variant MELA-AU 1 45114688 45114688 single base substitution G A exon_variant MELA-AU 1 45114688 45114688 single base substitution G A intron_variant MELA-AU 1 45115193 45115193 single base substitution C T downstream_gene_variant MELA-AU 1 45115193 45115193 single base substitution C T exon_variant MELA-AU 1 45115193 45115193 single base substitution C T intron_variant MELA-AU 1 45115194 45115194 single base substitution A C downstream_gene_variant MELA-AU 1 45115194 45115194 single base substitution A C exon_variant MELA-AU 1 45115194 45115194 single base substitution A C intron_variant MELA-AU 1 45115521 45115521 single base substitution C T downstream_gene_variant MELA-AU 1 45115521 45115521 single base substitution C T intron_variant MELA-AU 1 45115670 45115670 single base substitution G A downstream_gene_variant MELA-AU 1 45115670 45115670 single base substitution G A exon_variant MELA-AU 1 45115670 45115670 single base substitution G A intron_variant MELA-AU 1 45116114 45116114 single base substitution G A downstream_gene_variant MELA-AU 1 45116114 45116114 single base substitution G A exon_variant MELA-AU 1 45116114 45116114 single base substitution G A intron_variant MELA-AU 1 45116514 45116514 single base substitution C T 3_prime_UTR_variant MELA-AU 1 45116514 45116514 single base substitution C T downstream_gene_variant MELA-AU 1 45116514 45116514 single base substitution C T exon_variant MELA-AU 1 45118265 45118265 single base substitution C T downstream_gene_variant MELA-AU 1 45119264 45119264 single base substitution C T downstream_gene_variant MELA-AU 1 45120260 45120260 single base substitution C T downstream_gene_variant MELA-AU 1 45120324 45120324 single base substitution G A downstream_gene_variant MELA-AU 1 45120433 45120433 single base substitution G A downstream_gene_variant MELA-AU 1 45120645 45120645 single base substitution G A downstream_gene_variant MELA-AU 1 45121063 45121063 single base substitution C T downstream_gene_variant MELA-AU 1 45121464 45121464 single base substitution C T downstream_gene_variant MELA-AU 1 45121536 45121536 single base substitution C T downstream_gene_variant MELA-AU 1 45121597 45121597 single base substitution T C downstream_gene_variant MELA-AU 1 45121869 45121869 single base substitution C T downstream_gene_variant MELA-AU 1 45122100 45122100 single base substitution G A downstream_gene_variant MELA-AU 1 45122202 45122202 single base substitution C A downstream_gene_variant MELA-AU 1 45122208 45122208 single base substitution C T downstream_gene_variant ORCA-IN 1 44878371 44878371 single base substitution G T downstream_gene_variant ORCA-IN 1 44878371 44878371 single base substitution G T exon_variant ORCA-IN 1 44878371 44878371 single base substitution G T missense_variant S201I 602G>T ORCA-IN 1 44884441 44884441 single base substitution A G intron_variant ORCA-IN 1 44887998 44887998 single base substitution C A downstream_gene_variant ORCA-IN 1 44887998 44887998 single base substitution C A intron_variant ORCA-IN 1 44887998 44887998 single base substitution C A upstream_gene_variant ORCA-IN 1 44900368 44900368 single base substitution G A intron_variant ORCA-IN 1 44903740 44903740 single base substitution C G intron_variant ORCA-IN 1 44925300 44925300 single base substitution A G intron_variant ORCA-IN 1 44941009 44941009 single base substitution G A intron_variant ORCA-IN 1 44942480 44942480 single base substitution G A intron_variant ORCA-IN 1 44967354 44967354 single base substitution C G intron_variant ORCA-IN 1 44967833 44967833 single base substitution A T intron_variant ORCA-IN 1 44991744 44991744 single base substitution C T intron_variant ORCA-IN 1 45007585 45007585 deletion of <=200bp G - intron_variant ORCA-IN 1 45010121 45010121 single base substitution G C intron_variant ORCA-IN 1 45025755 45025755 single base substitution G C intron_variant ORCA-IN 1 45050738 45050738 single base substitution G A intron_variant ORCA-IN 1 45058422 45058422 single base substitution G C intron_variant ORCA-IN 1 45060640 45060640 single base substitution G C intron_variant ORCA-IN 1 45061941 45061941 single base substitution G T intron_variant ORCA-IN 1 45062660 45062660 single base substitution G T intron_variant ORCA-IN 1 45064520 45064520 single base substitution G A intron_variant ORCA-IN 1 45064940 45064940 single base substitution G A intron_variant ORCA-IN 1 45068993 45068993 single base substitution G A intron_variant ORCA-IN 1 45070075 45070075 single base substitution G C intron_variant ORCA-IN 1 45090731 45090731 single base substitution A G intron_variant ORCA-IN 1 45090731 45090731 single base substitution A G upstream_gene_variant ORCA-IN 1 45091666 45091666 single base substitution A G intron_variant ORCA-IN 1 45091666 45091666 single base substitution A G upstream_gene_variant ORCA-IN 1 45092369 45092369 single base substitution G T exon_variant ORCA-IN 1 45092369 45092369 single base substitution G T intron_variant OV-AU 1 44868412 44868412 single base substitution T G upstream_gene_variant OV-AU 1 44869003 44869003 single base substitution G A upstream_gene_variant OV-AU 1 44876267 44876267 single base substitution G A exon_variant OV-AU 1 44876267 44876267 single base substitution G A intron_variant OV-AU 1 44876267 44876267 single base substitution G A upstream_gene_variant OV-AU 1 44877592 44877592 single base substitution C T intron_variant OV-AU 1 44877592 44877592 single base substitution C T upstream_gene_variant OV-AU 1 44877823 44877823 single base substitution C A downstream_gene_variant OV-AU 1 44877823 44877823 single base substitution C A missense_variant N18K 54C>A OV-AU 1 44877823 44877823 single base substitution C A upstream_gene_variant OV-AU 1 44885762 44885762 single base substitution G C downstream_gene_variant OV-AU 1 44885762 44885762 single base substitution G C intron_variant OV-AU 1 44885762 44885762 single base substitution G C upstream_gene_variant OV-AU 1 44887453 44887453 single base substitution A T downstream_gene_variant OV-AU 1 44887453 44887453 single base substitution A T intron_variant OV-AU 1 44887453 44887453 single base substitution A T upstream_gene_variant OV-AU 1 44889565 44889565 single base substitution G T downstream_gene_variant OV-AU 1 44889565 44889565 single base substitution G T intron_variant OV-AU 1 44889565 44889565 single base substitution G T upstream_gene_variant OV-AU 1 44893975 44893975 single base substitution C T intron_variant OV-AU 1 44894417 44894417 single base substitution A T intron_variant OV-AU 1 44898595 44898595 single base substitution T C intron_variant OV-AU 1 44899894 44899894 single base substitution T A intron_variant OV-AU 1 44900130 44900130 single base substitution C T intron_variant OV-AU 1 44901484 44901484 single base substitution C A intron_variant OV-AU 1 44905031 44905031 single base substitution A T intron_variant OV-AU 1 44906375 44906375 single base substitution G C intron_variant OV-AU 1 44907512 44907512 single base substitution A T intron_variant OV-AU 1 44915563 44915563 single base substitution G T intron_variant OV-AU 1 44917891 44917891 single base substitution C T intron_variant OV-AU 1 44920697 44920697 single base substitution C T intron_variant OV-AU 1 44921187 44921187 single base substitution A G intron_variant OV-AU 1 44921399 44921399 single base substitution G A intron_variant OV-AU 1 44929979 44929979 single base substitution C A intron_variant OV-AU 1 44931053 44931053 single base substitution T A intron_variant OV-AU 1 44936755 44936755 single base substitution C T intron_variant OV-AU 1 44941417 44941417 single base substitution G A intron_variant OV-AU 1 44941553 44941553 single base substitution G A intron_variant OV-AU 1 44944966 44944966 single base substitution T G intron_variant OV-AU 1 44944973 44944973 single base substitution A G intron_variant OV-AU 1 44947007 44947007 single base substitution G A intron_variant OV-AU 1 44960466 44960466 single base substitution T G intron_variant OV-AU 1 44961650 44961650 single base substitution G T intron_variant OV-AU 1 44964943 44964943 single base substitution C T intron_variant OV-AU 1 44969574 44969574 single base substitution T G intron_variant OV-AU 1 44976480 44976480 single base substitution C A intron_variant OV-AU 1 44978903 44978903 single base substitution G T intron_variant OV-AU 1 44979636 44979636 single base substitution G T intron_variant OV-AU 1 44982038 44982038 single base substitution T C intron_variant OV-AU 1 44992587 44992587 single base substitution T C intron_variant OV-AU 1 44993434 44993434 single base substitution C T intron_variant OV-AU 1 45000256 45000256 single base substitution G C intron_variant OV-AU 1 45000568 45000568 single base substitution A G intron_variant OV-AU 1 45002703 45002703 single base substitution G A intron_variant OV-AU 1 45003506 45003506 single base substitution C G intron_variant OV-AU 1 45005419 45005419 single base substitution A G intron_variant OV-AU 1 45015238 45015238 single base substitution C A intron_variant OV-AU 1 45016617 45016617 single base substitution C A intron_variant OV-AU 1 45018554 45018554 single base substitution A C intron_variant OV-AU 1 45023036 45023036 single base substitution G C intron_variant OV-AU 1 45024361 45024361 single base substitution T C intron_variant OV-AU 1 45024976 45024976 single base substitution C T intron_variant OV-AU 1 45030355 45030355 single base substitution G T intron_variant OV-AU 1 45033772 45033772 single base substitution C A intron_variant OV-AU 1 45039050 45039050 single base substitution G A intron_variant OV-AU 1 45043319 45043319 single base substitution G A intron_variant OV-AU 1 45044604 45044604 single base substitution G A intron_variant OV-AU 1 45047213 45047213 single base substitution G C intron_variant OV-AU 1 45049042 45049042 single base substitution T A intron_variant OV-AU 1 45050275 45050275 single base substitution G A intron_variant OV-AU 1 45051207 45051207 single base substitution A C intron_variant OV-AU 1 45055613 45055613 single base substitution C T intron_variant OV-AU 1 45056984 45056984 single base substitution A T intron_variant OV-AU 1 45064656 45064656 single base substitution A C intron_variant OV-AU 1 45067551 45067551 single base substitution G A intron_variant OV-AU 1 45078288 45078288 single base substitution G T intron_variant OV-AU 1 45078288 45078288 single base substitution G T upstream_gene_variant OV-AU 1 45079327 45079327 single base substitution T C intron_variant OV-AU 1 45079327 45079327 single base substitution T C upstream_gene_variant OV-AU 1 45080146 45080146 single base substitution C G intron_variant OV-AU 1 45081109 45081109 single base substitution G A intron_variant OV-AU 1 45082434 45082434 single base substitution A T intron_variant OV-AU 1 45090409 45090409 single base substitution C T intron_variant OV-AU 1 45090409 45090409 single base substitution C T upstream_gene_variant OV-AU 1 45093562 45093562 single base substitution C A downstream_gene_variant OV-AU 1 45093562 45093562 single base substitution C A intron_variant OV-AU 1 45093562 45093562 single base substitution C A upstream_gene_variant OV-AU 1 45098297 45098297 single base substitution G T intron_variant OV-AU 1 45098297 45098297 single base substitution G T upstream_gene_variant OV-AU 1 45109637 45109637 single base substitution G C exon_variant OV-AU 1 45109637 45109637 single base substitution G C intron_variant OV-AU 1 45109637 45109637 single base substitution G C upstream_gene_variant OV-AU 1 45110185 45110185 single base substitution G A exon_variant OV-AU 1 45110185 45110185 single base substitution G A intron_variant OV-AU 1 45110185 45110185 single base substitution G A upstream_gene_variant OV-AU 1 45118601 45118601 single base substitution C T downstream_gene_variant OV-US 1 44878304 44878304 single base substitution G A downstream_gene_variant OV-US 1 44878304 44878304 single base substitution G A missense_variant V179I 535G>A OV-US 1 44878304 44878304 single base substitution G A upstream_gene_variant PACA-AU 1 44871052 44871052 single base substitution G A 5_prime_UTR_variant PACA-AU 1 44871052 44871052 single base substitution G A upstream_gene_variant PACA-AU 1 44871242 44871242 single base substitution C A intron_variant PACA-AU 1 44871242 44871242 single base substitution C A upstream_gene_variant PACA-AU 1 44871243 44871243 single base substitution C A intron_variant PACA-AU 1 44871243 44871243 single base substitution C A upstream_gene_variant PACA-AU 1 44872360 44872360 single base substitution A C intron_variant PACA-AU 1 44872360 44872360 single base substitution A C upstream_gene_variant PACA-AU 1 44872498 44872498 single base substitution C T intron_variant PACA-AU 1 44872498 44872498 single base substitution C T upstream_gene_variant PACA-AU 1 44874190 44874190 single base substitution A T intron_variant PACA-AU 1 44874190 44874190 single base substitution A T upstream_gene_variant PACA-AU 1 44876647 44876647 single base substitution C A intron_variant PACA-AU 1 44876647 44876647 single base substitution C A upstream_gene_variant PACA-AU 1 44877742 44877742 single base substitution G A 5_prime_UTR_variant PACA-AU 1 44877742 44877742 single base substitution G A exon_variant PACA-AU 1 44877742 44877742 single base substitution G A upstream_gene_variant PACA-AU 1 44879819 44879819 single base substitution G C downstream_gene_variant PACA-AU 1 44879819 44879819 single base substitution G C intron_variant PACA-AU 1 44883971 44883971 single base substitution A C intron_variant PACA-AU 1 44887895 44887895 single base substitution C T downstream_gene_variant PACA-AU 1 44887895 44887895 single base substitution C T intron_variant PACA-AU 1 44887895 44887895 single base substitution C T upstream_gene_variant PACA-AU 1 44889887 44889887 insertion of <=200bp - AG downstream_gene_variant PACA-AU 1 44889887 44889887 insertion of <=200bp - AG intron_variant PACA-AU 1 44890525 44890525 single base substitution G A downstream_gene_variant PACA-AU 1 44890525 44890525 single base substitution G A intron_variant PACA-AU 1 44890678 44890678 single base substitution T C intron_variant PACA-AU 1 44891161 44891161 single base substitution G A intron_variant PACA-AU 1 44891930 44891930 single base substitution G A intron_variant PACA-AU 1 44898368 44898368 single base substitution C T intron_variant PACA-AU 1 44909767 44909767 insertion of <=200bp - AAAG intron_variant PACA-AU 1 44915877 44915877 single base substitution C T intron_variant PACA-AU 1 44916640 44916640 single base substitution G A intron_variant PACA-AU 1 44919712 44919712 single base substitution G T intron_variant PACA-AU 1 44926416 44926416 single base substitution G A intron_variant PACA-AU 1 44927657 44927657 single base substitution T C intron_variant PACA-AU 1 44930903 44930903 single base substitution G A intron_variant PACA-AU 1 44931088 44931088 single base substitution A T intron_variant PACA-AU 1 44933173 44933173 single base substitution G A intron_variant PACA-AU 1 44934520 44934520 single base substitution C T intron_variant PACA-AU 1 44936175 44936175 single base substitution C T intron_variant PACA-AU 1 44941100 44941100 single base substitution G A intron_variant PACA-AU 1 44944532 44944532 single base substitution T C intron_variant PACA-AU 1 44953510 44953510 single base substitution C A intron_variant PACA-AU 1 44955055 44955055 insertion of <=200bp - T intron_variant PACA-AU 1 44956269 44956269 single base substitution T G intron_variant PACA-AU 1 44959202 44959202 deletion of <=200bp A - intron_variant PACA-AU 1 44964901 44964901 single base substitution C T intron_variant PACA-AU 1 44968351 44968351 single base substitution C A intron_variant PACA-AU 1 44969025 44969025 single base substitution A G intron_variant PACA-AU 1 44974203 44974203 single base substitution G A intron_variant PACA-AU 1 44978078 44978078 single base substitution G A intron_variant PACA-AU 1 44979675 44979675 single base substitution T A intron_variant PACA-AU 1 44983038 44983038 single base substitution C T intron_variant PACA-AU 1 44985299 44985299 single base substitution C A intron_variant PACA-AU 1 44991838 44991838 single base substitution C T intron_variant PACA-AU 1 44992090 44992090 single base substitution C A intron_variant PACA-AU 1 44992091 44992091 single base substitution C A intron_variant PACA-AU 1 44993613 44993613 single base substitution A T intron_variant PACA-AU 1 45008627 45008627 single base substitution G A intron_variant PACA-AU 1 45010430 45010430 single base substitution C T intron_variant PACA-AU 1 45018186 45018186 single base substitution C T intron_variant PACA-AU 1 45025497 45025497 single base substitution C T intron_variant PACA-AU 1 45027425 45027425 single base substitution C A intron_variant PACA-AU 1 45036181 45036181 single base substitution C T intron_variant PACA-AU 1 45046611 45046611 single base substitution G T intron_variant PACA-AU 1 45046837 45046838 deletion of <=200bp AC - intron_variant PACA-AU 1 45048138 45048138 single base substitution A C intron_variant PACA-AU 1 45048744 45048744 single base substitution G T intron_variant PACA-AU 1 45059493 45059493 single base substitution G A intron_variant PACA-AU 1 45063997 45063997 single base substitution G A intron_variant PACA-AU 1 45065198 45065198 single base substitution A G intron_variant PACA-AU 1 45074713 45074713 single base substitution C T intron_variant PACA-AU 1 45076780 45076780 single base substitution C T intron_variant PACA-AU 1 45076780 45076780 single base substitution C T upstream_gene_variant PACA-AU 1 45077366 45077366 single base substitution A C intron_variant PACA-AU 1 45077366 45077366 single base substitution A C upstream_gene_variant PACA-AU 1 45090946 45090946 single base substitution T G intron_variant PACA-AU 1 45090946 45090946 single base substitution T G upstream_gene_variant PACA-AU 1 45100744 45100744 single base substitution T C intron_variant PACA-AU 1 45100744 45100744 single base substitution T C upstream_gene_variant PACA-AU 1 45101438 45101438 single base substitution G A intron_variant PACA-AU 1 45101438 45101438 single base substitution G A upstream_gene_variant PACA-AU 1 45101848 45101848 single base substitution A G 3_prime_UTR_variant PACA-AU 1 45101848 45101848 single base substitution A G downstream_gene_variant PACA-AU 1 45101848 45101848 single base substitution A G intron_variant PACA-AU 1 45101848 45101848 single base substitution A G upstream_gene_variant PACA-AU 1 45102146 45102146 single base substitution A T 3_prime_UTR_variant PACA-AU 1 45102146 45102146 single base substitution A T downstream_gene_variant PACA-AU 1 45102146 45102146 single base substitution A T intron_variant PACA-AU 1 45102146 45102146 single base substitution A T upstream_gene_variant PACA-AU 1 45102445 45102445 single base substitution T G downstream_gene_variant PACA-AU 1 45102445 45102445 single base substitution T G intron_variant PACA-AU 1 45102445 45102445 single base substitution T G upstream_gene_variant PACA-AU 1 45103908 45103908 single base substitution G A downstream_gene_variant PACA-AU 1 45103908 45103908 single base substitution G A intron_variant PACA-AU 1 45103908 45103908 single base substitution G A upstream_gene_variant PACA-AU 1 45112323 45112323 single base substitution G A downstream_gene_variant PACA-AU 1 45112323 45112323 single base substitution G A intron_variant PACA-AU 1 45112323 45112323 single base substitution G A upstream_gene_variant PACA-AU 1 45114471 45114471 single base substitution G C downstream_gene_variant PACA-AU 1 45114471 45114471 single base substitution G C exon_variant PACA-AU 1 45114471 45114471 single base substitution G C intron_variant PACA-CA 1 44866323 44866323 single base substitution G A upstream_gene_variant PACA-CA 1 44868606 44868606 single base substitution A T upstream_gene_variant PACA-CA 1 44869323 44869323 deletion of <=200bp A - upstream_gene_variant PACA-CA 1 44871090 44871090 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 1 44871090 44871090 single base substitution C T upstream_gene_variant PACA-CA 1 44871542 44871542 single base substitution C T intron_variant PACA-CA 1 44871542 44871542 single base substitution C T upstream_gene_variant PACA-CA 1 44871718 44871718 single base substitution T C intron_variant PACA-CA 1 44871718 44871718 single base substitution T C upstream_gene_variant PACA-CA 1 44873432 44873432 single base substitution C A intron_variant PACA-CA 1 44873432 44873432 single base substitution C A upstream_gene_variant PACA-CA 1 44873810 44873810 single base substitution C T intron_variant PACA-CA 1 44873810 44873810 single base substitution C T upstream_gene_variant PACA-CA 1 44873829 44873829 single base substitution C T intron_variant PACA-CA 1 44873829 44873829 single base substitution C T upstream_gene_variant PACA-CA 1 44874163 44874163 single base substitution G A intron_variant PACA-CA 1 44874163 44874163 single base substitution G A upstream_gene_variant PACA-CA 1 44875266 44875266 single base substitution C T intron_variant PACA-CA 1 44875266 44875266 single base substitution C T upstream_gene_variant PACA-CA 1 44875815 44875815 insertion of <=200bp - G intron_variant PACA-CA 1 44875815 44875815 insertion of <=200bp - G upstream_gene_variant PACA-CA 1 44877364 44877364 single base substitution C T intron_variant PACA-CA 1 44877364 44877364 single base substitution C T upstream_gene_variant PACA-CA 1 44877769 44877769 single base substitution G A 5_prime_UTR_variant PACA-CA 1 44877769 44877769 single base substitution G A exon_variant PACA-CA 1 44877769 44877769 single base substitution G A upstream_gene_variant PACA-CA 1 44880159 44880159 single base substitution G A downstream_gene_variant PACA-CA 1 44880159 44880159 single base substitution G A intron_variant PACA-CA 1 44884324 44884324 single base substitution A C intron_variant PACA-CA 1 44889595 44889595 single base substitution G C downstream_gene_variant PACA-CA 1 44889595 44889595 single base substitution G C intron_variant PACA-CA 1 44889595 44889595 single base substitution G C upstream_gene_variant PACA-CA 1 44891556 44891556 single base substitution T C intron_variant PACA-CA 1 44892445 44892445 single base substitution C T intron_variant PACA-CA 1 44892500 44892500 single base substitution C A intron_variant PACA-CA 1 44894490 44894490 single base substitution T C intron_variant PACA-CA 1 44895522 44895522 single base substitution T C intron_variant PACA-CA 1 44899621 44899621 single base substitution G A intron_variant PACA-CA 1 44903938 44903938 single base substitution A G intron_variant PACA-CA 1 44904744 44904744 single base substitution G C intron_variant PACA-CA 1 44905606 44905606 single base substitution G A intron_variant PACA-CA 1 44906770 44906770 single base substitution G T intron_variant PACA-CA 1 44907123 44907123 single base substitution T C intron_variant PACA-CA 1 44909895 44909895 single base substitution T G intron_variant PACA-CA 1 44914357 44914357 single base substitution T C intron_variant PACA-CA 1 44917410 44917410 single base substitution A G intron_variant PACA-CA 1 44919219 44919219 single base substitution C A intron_variant PACA-CA 1 44919872 44919872 single base substitution A T intron_variant PACA-CA 1 44921660 44921660 single base substitution C A intron_variant PACA-CA 1 44924177 44924177 single base substitution A T intron_variant PACA-CA 1 44926377 44926377 single base substitution G C intron_variant PACA-CA 1 44926446 44926446 single base substitution C T intron_variant PACA-CA 1 44927088 44927088 single base substitution C T intron_variant PACA-CA 1 44927731 44927752 deletion of <=200bp CTGGGATTACAGGGGCACACCA - intron_variant PACA-CA 1 44927825 44927825 single base substitution T C intron_variant PACA-CA 1 44927887 44927887 single base substitution G T intron_variant PACA-CA 1 44929447 44929447 single base substitution C A intron_variant PACA-CA 1 44929583 44929583 single base substitution G T intron_variant PACA-CA 1 44931708 44931708 single base substitution G C intron_variant PACA-CA 1 44935024 44935024 single base substitution C G intron_variant PACA-CA 1 44939162 44939162 single base substitution C T intron_variant PACA-CA 1 44939961 44939961 single base substitution C T intron_variant PACA-CA 1 44940382 44940382 insertion of <=200bp - A intron_variant PACA-CA 1 44945606 44945606 single base substitution G A intron_variant PACA-CA 1 44948189 44948189 single base substitution G A intron_variant PACA-CA 1 44948987 44948987 single base substitution T C intron_variant PACA-CA 1 44949785 44949785 single base substitution G T intron_variant PACA-CA 1 44955480 44955480 single base substitution A G intron_variant PACA-CA 1 44967048 44967048 single base substitution G C intron_variant PACA-CA 1 44969164 44969164 single base substitution C T intron_variant PACA-CA 1 44972022 44972022 single base substitution G T intron_variant PACA-CA 1 44972189 44972189 single base substitution G A intron_variant PACA-CA 1 44972601 44972601 single base substitution C T intron_variant PACA-CA 1 44973537 44973537 insertion of <=200bp - C intron_variant PACA-CA 1 44976323 44976323 single base substitution A G intron_variant PACA-CA 1 44977743 44977743 single base substitution T A intron_variant PACA-CA 1 44979077 44979077 single base substitution C T intron_variant PACA-CA 1 44980363 44980363 single base substitution A T intron_variant PACA-CA 1 44984470 44984470 single base substitution C T intron_variant PACA-CA 1 44984561 44984561 single base substitution C A intron_variant PACA-CA 1 44989857 44989857 single base substitution G C intron_variant PACA-CA 1 44995040 44995040 single base substitution A C intron_variant PACA-CA 1 44995042 44995042 single base substitution C A intron_variant PACA-CA 1 44995117 44995117 single base substitution G A intron_variant PACA-CA 1 44995775 44995775 insertion of <=200bp - T intron_variant PACA-CA 1 44996771 44996771 single base substitution A G intron_variant PACA-CA 1 45000958 45000958 single base substitution A G intron_variant PACA-CA 1 45001951 45001951 single base substitution C T intron_variant PACA-CA 1 45006207 45006207 single base substitution C T intron_variant PACA-CA 1 45008916 45008916 single base substitution G A intron_variant PACA-CA 1 45009063 45009063 single base substitution G T intron_variant PACA-CA 1 45010883 45010883 single base substitution G T intron_variant PACA-CA 1 45013116 45013116 single base substitution C T intron_variant PACA-CA 1 45016619 45016619 single base substitution G A intron_variant PACA-CA 1 45022918 45022918 single base substitution C T intron_variant PACA-CA 1 45023790 45023790 single base substitution G A intron_variant PACA-CA 1 45024344 45024344 insertion of <=200bp - T intron_variant PACA-CA 1 45024472 45024472 single base substitution C T intron_variant PACA-CA 1 45026906 45026906 single base substitution G A intron_variant PACA-CA 1 45028910 45028910 single base substitution C T intron_variant PACA-CA 1 45033908 45033908 single base substitution G A intron_variant PACA-CA 1 45036516 45036516 single base substitution C T intron_variant PACA-CA 1 45036949 45036949 single base substitution A T intron_variant PACA-CA 1 45038506 45038506 single base substitution T A intron_variant PACA-CA 1 45038948 45038948 single base substitution G C intron_variant PACA-CA 1 45040678 45040678 single base substitution G A intron_variant PACA-CA 1 45048135 45048135 single base substitution A T intron_variant PACA-CA 1 45048289 45048289 single base substitution C T intron_variant PACA-CA 1 45050472 45050472 single base substitution G T intron_variant PACA-CA 1 45050957 45050957 single base substitution C T intron_variant PACA-CA 1 45052756 45052756 insertion of <=200bp - T intron_variant PACA-CA 1 45053275 45053275 single base substitution C T intron_variant PACA-CA 1 45056758 45056758 single base substitution C T intron_variant PACA-CA 1 45058592 45058592 single base substitution C T intron_variant PACA-CA 1 45060092 45060092 single base substitution C T intron_variant PACA-CA 1 45065944 45065944 single base substitution G A intron_variant PACA-CA 1 45069476 45069476 single base substitution G T intron_variant PACA-CA 1 45070894 45070894 single base substitution G A intron_variant PACA-CA 1 45072791 45072791 single base substitution C T intron_variant PACA-CA 1 45074188 45074188 single base substitution T A intron_variant PACA-CA 1 45080181 45080181 single base substitution A G intron_variant PACA-CA 1 45080493 45080495 deletion of <=200bp CCT - intron_variant PACA-CA 1 45080601 45080601 single base substitution G A intron_variant PACA-CA 1 45087376 45087376 single base substitution C T intron_variant PACA-CA 1 45087376 45087376 single base substitution C T upstream_gene_variant PACA-CA 1 45087899 45087899 single base substitution G A intron_variant PACA-CA 1 45087899 45087899 single base substitution G A upstream_gene_variant PACA-CA 1 45087921 45087921 single base substitution C T intron_variant PACA-CA 1 45087921 45087921 single base substitution C T upstream_gene_variant PACA-CA 1 45088387 45088387 single base substitution T C intron_variant PACA-CA 1 45088387 45088387 single base substitution T C upstream_gene_variant PACA-CA 1 45088724 45088724 single base substitution A G intron_variant PACA-CA 1 45088724 45088724 single base substitution A G upstream_gene_variant PACA-CA 1 45090288 45090288 single base substitution C T intron_variant PACA-CA 1 45090288 45090288 single base substitution C T upstream_gene_variant PACA-CA 1 45100629 45100629 single base substitution T C intron_variant PACA-CA 1 45100629 45100629 single base substitution T C upstream_gene_variant PACA-CA 1 45107418 45107418 single base substitution A G intron_variant PACA-CA 1 45107418 45107418 single base substitution A G upstream_gene_variant PACA-CA 1 45114997 45114997 single base substitution C A downstream_gene_variant PACA-CA 1 45114997 45114997 single base substitution C A exon_variant PACA-CA 1 45114997 45114997 single base substitution C A intron_variant PACA-CA 1 45115953 45115953 single base substitution C T downstream_gene_variant PACA-CA 1 45115953 45115953 single base substitution C T exon_variant PACA-CA 1 45115953 45115953 single base substitution C T intron_variant PACA-CA 1 45116113 45116113 single base substitution G A downstream_gene_variant PACA-CA 1 45116113 45116113 single base substitution G A exon_variant PACA-CA 1 45116113 45116113 single base substitution G A intron_variant PACA-CA 1 45118098 45118098 single base substitution G A downstream_gene_variant PACA-CA 1 45121461 45121461 single base substitution T A downstream_gene_variant PAEN-AU 1 44871898 44871898 single base substitution T G intron_variant PAEN-AU 1 44871898 44871898 single base substitution T G upstream_gene_variant PAEN-AU 1 44879426 44879426 single base substitution T A downstream_gene_variant PAEN-AU 1 44879426 44879426 single base substitution T A intron_variant PAEN-AU 1 44945800 44945800 single base substitution G A intron_variant PAEN-AU 1 44947004 44947004 single base substitution G A intron_variant PAEN-AU 1 44947806 44947806 single base substitution T C intron_variant PAEN-AU 1 44973415 44973415 single base substitution C T intron_variant PAEN-AU 1 45059814 45059814 single base substitution A C intron_variant PAEN-AU 1 45063621 45063625 deletion of <=200bp CACCC - intron_variant PAEN-AU 1 45121491 45121491 single base substitution T C downstream_gene_variant PAEN-IT 1 44908255 44908255 single base substitution C T intron_variant PAEN-IT 1 44921283 44921283 single base substitution G A intron_variant PAEN-IT 1 44957104 44957104 single base substitution T A intron_variant PAEN-IT 1 44969810 44969810 single base substitution G A intron_variant PAEN-IT 1 44970585 44970585 single base substitution G C intron_variant PAEN-IT 1 44986317 44986317 single base substitution C T intron_variant PAEN-IT 1 45023855 45023855 single base substitution G A intron_variant PAEN-IT 1 45025297 45025297 single base substitution G A intron_variant PBCA-DE 1 44867046 44867046 single base substitution G A upstream_gene_variant PBCA-DE 1 44871069 44871069 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PBCA-DE 1 44871069 44871069 single base substitution C T upstream_gene_variant PBCA-DE 1 44880762 44880762 single base substitution G A downstream_gene_variant PBCA-DE 1 44880762 44880762 single base substitution G A intron_variant PBCA-DE 1 44889418 44889418 single base substitution C G downstream_gene_variant PBCA-DE 1 44889418 44889418 single base substitution C G intron_variant PBCA-DE 1 44889418 44889418 single base substitution C G upstream_gene_variant PBCA-DE 1 44899636 44899636 insertion of <=200bp - AAAAT intron_variant PBCA-DE 1 44906664 44906664 single base substitution G A intron_variant PBCA-DE 1 44922878 44922881 deletion of <=200bp AAAT - intron_variant PBCA-DE 1 44948495 44948495 single base substitution G A intron_variant PBCA-DE 1 44950223 44950223 single base substitution G T intron_variant PBCA-DE 1 44953534 44953535 deletion of <=200bp AG - intron_variant PBCA-DE 1 44954127 44954127 single base substitution G A intron_variant PBCA-DE 1 44968420 44968420 insertion of <=200bp - ATT intron_variant PBCA-DE 1 44978377 44978377 single base substitution C A intron_variant PBCA-DE 1 44979246 44979246 insertion of <=200bp - G intron_variant PBCA-DE 1 44979559 44979559 single base substitution C T intron_variant PBCA-DE 1 44993265 44993265 insertion of <=200bp - T intron_variant PBCA-DE 1 44999560 44999560 single base substitution C T intron_variant PBCA-DE 1 45005834 45005834 single base substitution C A intron_variant PBCA-DE 1 45005835 45005835 single base substitution A T intron_variant PBCA-DE 1 45030697 45030697 insertion of <=200bp - TT intron_variant PBCA-DE 1 45041027 45041027 deletion of <=200bp T - intron_variant PBCA-DE 1 45047585 45047585 single base substitution A T intron_variant PBCA-DE 1 45048888 45048889 deletion of <=200bp AT - intron_variant PBCA-DE 1 45084917 45084917 single base substitution G T intron_variant PBCA-DE 1 45088584 45088584 single base substitution C T intron_variant PBCA-DE 1 45088584 45088584 single base substitution C T upstream_gene_variant PBCA-DE 1 45092707 45092719 deletion of <=200bp CAAAAAAAAAAAA - exon_variant PBCA-DE 1 45092707 45092719 deletion of <=200bp CAAAAAAAAAAAA - intron_variant PBCA-DE 1 45092707 45092719 deletion of <=200bp CAAAAAAAAAAAA - upstream_gene_variant PBCA-DE 1 45104937 45104937 single base substitution C A downstream_gene_variant PBCA-DE 1 45104937 45104937 single base substitution C A intron_variant PBCA-DE 1 45104937 45104937 single base substitution C A upstream_gene_variant PBCA-DE 1 45106718 45106718 deletion of <=200bp T - downstream_gene_variant PBCA-DE 1 45106718 45106718 deletion of <=200bp T - intron_variant PBCA-DE 1 45106718 45106718 deletion of <=200bp T - upstream_gene_variant PRAD-CA 1 44886113 44886113 single base substitution C T downstream_gene_variant PRAD-CA 1 44886113 44886113 single base substitution C T intron_variant PRAD-CA 1 44886113 44886113 single base substitution C T upstream_gene_variant PRAD-CA 1 44889418 44889418 single base substitution C G downstream_gene_variant PRAD-CA 1 44889418 44889418 single base substitution C G intron_variant PRAD-CA 1 44889418 44889418 single base substitution C G upstream_gene_variant PRAD-CA 1 44889888 44889888 single base substitution G A downstream_gene_variant PRAD-CA 1 44889888 44889888 single base substitution G A intron_variant PRAD-CA 1 44892167 44892167 single base substitution C T intron_variant PRAD-CA 1 44896732 44896732 single base substitution G A intron_variant PRAD-CA 1 44896939 44896939 single base substitution G T intron_variant PRAD-CA 1 44913029 44913029 single base substitution C T intron_variant PRAD-CA 1 44920864 44920864 single base substitution C G intron_variant PRAD-CA 1 44924364 44924364 single base substitution G A intron_variant PRAD-CA 1 44926240 44926240 single base substitution G A intron_variant PRAD-CA 1 44929026 44929026 single base substitution G A intron_variant PRAD-CA 1 44930393 44930393 single base substitution C T intron_variant PRAD-CA 1 44937357 44937357 single base substitution C A intron_variant PRAD-CA 1 44955861 44955861 single base substitution C T intron_variant PRAD-CA 1 44977588 44977588 single base substitution C T intron_variant PRAD-CA 1 44999154 44999154 single base substitution G A intron_variant PRAD-CA 1 45005178 45005178 single base substitution G A intron_variant PRAD-CA 1 45024190 45024190 single base substitution G A intron_variant PRAD-CA 1 45033774 45033774 single base substitution A G intron_variant PRAD-CA 1 45050370 45050370 single base substitution T C intron_variant PRAD-CA 1 45083660 45083660 single base substitution C A intron_variant PRAD-CA 1 45091702 45091702 single base substitution C G intron_variant PRAD-CA 1 45091702 45091702 single base substitution C G upstream_gene_variant PRAD-CA 1 45097544 45097544 single base substitution C A 5_prime_UTR_variant PRAD-CA 1 45097544 45097544 single base substitution C A downstream_gene_variant PRAD-CA 1 45097544 45097544 single base substitution C A intron_variant PRAD-CA 1 45097544 45097544 single base substitution C A upstream_gene_variant PRAD-CA 1 45111373 45111373 single base substitution G C downstream_gene_variant PRAD-CA 1 45111373 45111373 single base substitution G C intron_variant PRAD-CA 1 45111373 45111373 single base substitution G C upstream_gene_variant PRAD-CA 1 45111374 45111374 single base substitution T C downstream_gene_variant PRAD-CA 1 45111374 45111374 single base substitution T C intron_variant PRAD-CA 1 45111374 45111374 single base substitution T C upstream_gene_variant PRAD-CA 1 45117867 45117867 single base substitution C T downstream_gene_variant PRAD-UK 1 44871050 44871050 insertion of <=200bp - CTGCTG 5_prime_UTR_variant PRAD-UK 1 44871050 44871050 insertion of <=200bp - CTGCTG upstream_gene_variant PRAD-UK 1 44876424 44876424 single base substitution A T intron_variant PRAD-UK 1 44876424 44876424 single base substitution A T upstream_gene_variant PRAD-UK 1 44876908 44876908 single base substitution G A intron_variant PRAD-UK 1 44876908 44876908 single base substitution G A upstream_gene_variant PRAD-UK 1 44912388 44912388 single base substitution G A intron_variant PRAD-UK 1 44922106 44922106 single base substitution G C intron_variant PRAD-UK 1 44931295 44931295 single base substitution A C intron_variant PRAD-UK 1 44933627 44933627 single base substitution G A intron_variant PRAD-UK 1 44937619 44937619 single base substitution G A intron_variant PRAD-UK 1 44957398 44957398 single base substitution T G intron_variant PRAD-UK 1 44976258 44976258 single base substitution T C intron_variant PRAD-UK 1 44976987 44976987 single base substitution A G intron_variant PRAD-UK 1 44981034 44981034 single base substitution T G intron_variant PRAD-UK 1 44994935 44994935 single base substitution T A intron_variant PRAD-UK 1 45007077 45007111 deletion of <=200bp GTGACAGAGTGAGACTCCGTCTCAACAACAAAAAA - intron_variant PRAD-UK 1 45017076 45017076 single base substitution C T intron_variant PRAD-UK 1 45022095 45022095 single base substitution G A intron_variant PRAD-UK 1 45027106 45027106 single base substitution G A intron_variant PRAD-UK 1 45027418 45027418 single base substitution G A intron_variant PRAD-UK 1 45029881 45029899 deletion of <=200bp CCCTTCTACCTTGTCACTG - intron_variant PRAD-UK 1 45043892 45043892 single base substitution C T intron_variant PRAD-UK 1 45044210 45044210 single base substitution C T intron_variant PRAD-UK 1 45045144 45045144 single base substitution T C intron_variant PRAD-UK 1 45048158 45048158 single base substitution G A intron_variant PRAD-UK 1 45052128 45052128 single base substitution C T intron_variant PRAD-UK 1 45053544 45053544 single base substitution C T intron_variant PRAD-UK 1 45066216 45066216 single base substitution G A intron_variant PRAD-UK 1 45072759 45072759 single base substitution C A intron_variant PRAD-UK 1 45079203 45079203 single base substitution G C intron_variant PRAD-UK 1 45079203 45079203 single base substitution G C upstream_gene_variant PRAD-UK 1 45087515 45087515 single base substitution A T intron_variant PRAD-UK 1 45087515 45087515 single base substitution A T upstream_gene_variant PRAD-US 1 44878184 44878184 single base substitution G A downstream_gene_variant PRAD-US 1 44878184 44878184 single base substitution G A missense_variant A139T 415G>A PRAD-US 1 44878184 44878184 single base substitution G A upstream_gene_variant PRAD-US 1 45111052 45111052 single base substitution G A downstream_gene_variant PRAD-US 1 45111052 45111052 single base substitution G A intron_variant PRAD-US 1 45111052 45111052 single base substitution G A upstream_gene_variant RECA-EU 1 44867857 44867857 single base substitution C T upstream_gene_variant RECA-EU 1 44877074 44877074 single base substitution G C intron_variant RECA-EU 1 44877074 44877074 single base substitution G C upstream_gene_variant RECA-EU 1 44880313 44880313 single base substitution A G downstream_gene_variant RECA-EU 1 44880313 44880313 single base substitution A G intron_variant RECA-EU 1 44909689 44909689 single base substitution G T intron_variant RECA-EU 1 44911506 44911506 single base substitution C T intron_variant RECA-EU 1 44935429 44935429 single base substitution G A intron_variant RECA-EU 1 44947106 44947106 single base substitution G C intron_variant RECA-EU 1 44951220 44951220 single base substitution A T intron_variant RECA-EU 1 44958252 44958252 single base substitution G A intron_variant RECA-EU 1 44964065 44964065 single base substitution C T intron_variant RECA-EU 1 44971695 44971695 single base substitution A T intron_variant RECA-EU 1 44973291 44973291 single base substitution G C intron_variant RECA-EU 1 44974148 44974148 single base substitution T A intron_variant RECA-EU 1 44976247 44976247 single base substitution G C intron_variant RECA-EU 1 44984474 44984474 single base substitution G C intron_variant RECA-EU 1 45000810 45000810 single base substitution T C intron_variant RECA-EU 1 45010283 45010283 single base substitution G A intron_variant RECA-EU 1 45022178 45022178 single base substitution G A intron_variant RECA-EU 1 45043495 45043495 single base substitution G T intron_variant RECA-EU 1 45049292 45049292 single base substitution C T intron_variant RECA-EU 1 45051106 45051106 single base substitution G A intron_variant RECA-EU 1 45053767 45053767 single base substitution A T intron_variant RECA-EU 1 45064163 45064163 single base substitution C T intron_variant RECA-EU 1 45065964 45065964 single base substitution A C intron_variant RECA-EU 1 45078251 45078251 single base substitution T G intron_variant RECA-EU 1 45078251 45078251 single base substitution T G upstream_gene_variant RECA-EU 1 45089059 45089059 single base substitution A T intron_variant RECA-EU 1 45089059 45089059 single base substitution A T upstream_gene_variant RECA-EU 1 45117851 45117851 single base substitution A G downstream_gene_variant SKCA-BR 1 44866044 44866044 single base substitution C A upstream_gene_variant SKCA-BR 1 44866918 44866918 single base substitution G A upstream_gene_variant SKCA-BR 1 44867310 44867310 single base substitution C A upstream_gene_variant SKCA-BR 1 44872366 44872366 single base substitution G C intron_variant SKCA-BR 1 44872366 44872366 single base substitution G C upstream_gene_variant SKCA-BR 1 44872373 44872373 single base substitution A C intron_variant SKCA-BR 1 44872373 44872373 single base substitution A C upstream_gene_variant SKCA-BR 1 44875194 44875194 single base substitution G C intron_variant SKCA-BR 1 44875194 44875194 single base substitution G C upstream_gene_variant SKCA-BR 1 44876936 44876936 single base substitution T C intron_variant SKCA-BR 1 44876936 44876936 single base substitution T C upstream_gene_variant SKCA-BR 1 44879046 44879046 single base substitution G C downstream_gene_variant SKCA-BR 1 44879046 44879046 single base substitution G C intron_variant SKCA-BR 1 44881172 44881172 insertion of <=200bp - GAT downstream_gene_variant SKCA-BR 1 44881172 44881172 insertion of <=200bp - GAT intron_variant SKCA-BR 1 44881176 44881176 insertion of <=200bp - TATAC downstream_gene_variant SKCA-BR 1 44881176 44881176 insertion of <=200bp - TATAC intron_variant SKCA-BR 1 44881178 44881178 single base substitution C T downstream_gene_variant SKCA-BR 1 44881178 44881178 single base substitution C T intron_variant SKCA-BR 1 44882799 44882799 single base substitution G A intron_variant SKCA-BR 1 44883182 44883182 single base substitution C T intron_variant SKCA-BR 1 44885470 44885470 single base substitution C T exon_variant SKCA-BR 1 44885470 44885470 single base substitution C T intron_variant SKCA-BR 1 44885470 44885470 single base substitution C T upstream_gene_variant SKCA-BR 1 44888120 44888120 single base substitution G A downstream_gene_variant SKCA-BR 1 44888120 44888120 single base substitution G A intron_variant SKCA-BR 1 44888120 44888120 single base substitution G A upstream_gene_variant SKCA-BR 1 44889318 44889318 single base substitution A G downstream_gene_variant SKCA-BR 1 44889318 44889318 single base substitution A G intron_variant SKCA-BR 1 44889318 44889318 single base substitution A G upstream_gene_variant SKCA-BR 1 44889725 44889725 single base substitution T G 5_prime_UTR_variant SKCA-BR 1 44889725 44889725 single base substitution T G downstream_gene_variant SKCA-BR 1 44889725 44889725 single base substitution T G intron_variant SKCA-BR 1 44890482 44890482 single base substitution C T downstream_gene_variant SKCA-BR 1 44890482 44890482 single base substitution C T intron_variant SKCA-BR 1 44890937 44890937 single base substitution C T intron_variant SKCA-BR 1 44891488 44891488 single base substitution C T intron_variant SKCA-BR 1 44892008 44892008 single base substitution A T intron_variant SKCA-BR 1 44892045 44892045 single base substitution G A intron_variant SKCA-BR 1 44898162 44898162 single base substitution G A intron_variant SKCA-BR 1 44898570 44898572 deletion of <=200bp TTC - intron_variant SKCA-BR 1 44900883 44900883 single base substitution C T intron_variant SKCA-BR 1 44901420 44901420 single base substitution G A intron_variant SKCA-BR 1 44901612 44901612 insertion of <=200bp - GA intron_variant SKCA-BR 1 44903468 44903468 single base substitution A G intron_variant SKCA-BR 1 44909131 44909131 single base substitution C T intron_variant SKCA-BR 1 44911659 44911659 single base substitution C T intron_variant SKCA-BR 1 44913392 44913392 single base substitution C T intron_variant SKCA-BR 1 44913665 44913665 single base substitution C T intron_variant SKCA-BR 1 44914270 44914270 single base substitution A G intron_variant SKCA-BR 1 44916093 44916093 single base substitution C T intron_variant SKCA-BR 1 44916823 44916823 single base substitution C T intron_variant SKCA-BR 1 44917664 44917664 single base substitution C A intron_variant SKCA-BR 1 44919224 44919224 single base substitution C T intron_variant SKCA-BR 1 44919629 44919629 single base substitution G A intron_variant SKCA-BR 1 44922390 44922390 single base substitution C T intron_variant SKCA-BR 1 44922762 44922762 single base substitution C T intron_variant SKCA-BR 1 44923235 44923236 deletion of <=200bp AT - intron_variant SKCA-BR 1 44923393 44923393 single base substitution C T intron_variant SKCA-BR 1 44925120 44925120 single base substitution C T intron_variant SKCA-BR 1 44925779 44925779 single base substitution C T intron_variant SKCA-BR 1 44925942 44925942 single base substitution C T intron_variant SKCA-BR 1 44927105 44927105 single base substitution C A intron_variant SKCA-BR 1 44927137 44927137 single base substitution A G intron_variant SKCA-BR 1 44927596 44927605 deletion of <=200bp GTTTTTTTTT - intron_variant SKCA-BR 1 44928123 44928123 single base substitution C T intron_variant SKCA-BR 1 44928325 44928325 single base substitution G A intron_variant SKCA-BR 1 44928780 44928780 single base substitution G A intron_variant SKCA-BR 1 44930129 44930129 single base substitution G A intron_variant SKCA-BR 1 44932272 44932272 single base substitution C T intron_variant SKCA-BR 1 44933295 44933295 single base substitution T G intron_variant SKCA-BR 1 44934828 44934828 single base substitution G A intron_variant SKCA-BR 1 44935188 44935188 single base substitution C T intron_variant SKCA-BR 1 44935910 44935910 single base substitution G A intron_variant SKCA-BR 1 44937035 44937035 single base substitution T G intron_variant SKCA-BR 1 44939168 44939168 single base substitution C G intron_variant SKCA-BR 1 44941240 44941240 single base substitution C A intron_variant SKCA-BR 1 44941591 44941591 single base substitution G A intron_variant SKCA-BR 1 44944407 44944407 single base substitution G A intron_variant SKCA-BR 1 44948861 44948861 single base substitution C T intron_variant SKCA-BR 1 44949027 44949027 single base substitution G A intron_variant SKCA-BR 1 44949236 44949236 single base substitution G A intron_variant SKCA-BR 1 44952542 44952542 single base substitution C T intron_variant SKCA-BR 1 44956148 44956148 single base substitution C T intron_variant SKCA-BR 1 44956357 44956357 single base substitution G A intron_variant SKCA-BR 1 44960137 44960137 single base substitution G A intron_variant SKCA-BR 1 44963486 44963486 single base substitution G A intron_variant SKCA-BR 1 44964447 44964447 single base substitution G A intron_variant SKCA-BR 1 44964798 44964798 single base substitution C T intron_variant SKCA-BR 1 44965484 44965484 single base substitution C T intron_variant SKCA-BR 1 44966837 44966837 single base substitution A G intron_variant SKCA-BR 1 44967323 44967323 single base substitution A G intron_variant SKCA-BR 1 44968206 44968206 single base substitution A C intron_variant SKCA-BR 1 44969441 44969441 single base substitution G A intron_variant SKCA-BR 1 44970180 44970180 single base substitution T G intron_variant SKCA-BR 1 44971618 44971618 single base substitution C T intron_variant SKCA-BR 1 44973143 44973143 single base substitution G A intron_variant SKCA-BR 1 44973684 44973684 single base substitution T G intron_variant SKCA-BR 1 44973900 44973900 single base substitution A G intron_variant SKCA-BR 1 44978517 44978517 single base substitution G A intron_variant SKCA-BR 1 44978523 44978523 single base substitution G A intron_variant SKCA-BR 1 44978908 44978908 single base substitution C T intron_variant SKCA-BR 1 44979741 44979741 single base substitution C T intron_variant SKCA-BR 1 44980390 44980390 single base substitution G A intron_variant SKCA-BR 1 44981357 44981357 single base substitution C T intron_variant SKCA-BR 1 44981371 44981371 single base substitution C T intron_variant SKCA-BR 1 44983727 44983727 single base substitution G A intron_variant SKCA-BR 1 44983728 44983728 single base substitution G A intron_variant SKCA-BR 1 44985357 44985357 single base substitution C G intron_variant SKCA-BR 1 44985800 44985800 insertion of <=200bp - TGA intron_variant SKCA-BR 1 44985800 44985800 single base substitution T A intron_variant SKCA-BR 1 44985819 44985819 single base substitution A G intron_variant SKCA-BR 1 44989656 44989656 single base substitution G C intron_variant SKCA-BR 1 44990219 44990219 single base substitution A C intron_variant SKCA-BR 1 44990246 44990246 single base substitution G C intron_variant SKCA-BR 1 44990634 44990634 single base substitution T G intron_variant SKCA-BR 1 44991754 44991754 single base substitution C T intron_variant SKCA-BR 1 44992416 44992416 single base substitution C T intron_variant SKCA-BR 1 44995542 44995542 single base substitution G A intron_variant SKCA-BR 1 44997842 44997842 single base substitution G A intron_variant SKCA-BR 1 44999599 44999599 single base substitution C T intron_variant SKCA-BR 1 45000290 45000290 single base substitution C T intron_variant SKCA-BR 1 45000809 45000809 insertion of <=200bp - TC intron_variant SKCA-BR 1 45004521 45004521 single base substitution G A intron_variant SKCA-BR 1 45004920 45004920 single base substitution C T intron_variant SKCA-BR 1 45005188 45005188 single base substitution A G intron_variant SKCA-BR 1 45005756 45005756 single base substitution C T intron_variant SKCA-BR 1 45006352 45006352 single base substitution C T intron_variant SKCA-BR 1 45006439 45006439 single base substitution T C intron_variant SKCA-BR 1 45006449 45006449 single base substitution A C intron_variant SKCA-BR 1 45007005 45007005 single base substitution T G intron_variant SKCA-BR 1 45008364 45008364 single base substitution A T intron_variant SKCA-BR 1 45010533 45010533 single base substitution T G intron_variant SKCA-BR 1 45012225 45012225 single base substitution G A intron_variant SKCA-BR 1 45013471 45013471 single base substitution G A intron_variant SKCA-BR 1 45014620 45014620 single base substitution C T intron_variant SKCA-BR 1 45015069 45015069 single base substitution G A intron_variant SKCA-BR 1 45015870 45015870 single base substitution C T intron_variant SKCA-BR 1 45016850 45016850 single base substitution G A intron_variant SKCA-BR 1 45021086 45021086 single base substitution C T intron_variant SKCA-BR 1 45022594 45022594 single base substitution C T intron_variant SKCA-BR 1 45023019 45023019 single base substitution G A intron_variant SKCA-BR 1 45023930 45023930 single base substitution G A intron_variant SKCA-BR 1 45025062 45025062 single base substitution G A intron_variant SKCA-BR 1 45025599 45025599 single base substitution G A intron_variant SKCA-BR 1 45032121 45032121 single base substitution G A intron_variant SKCA-BR 1 45033343 45033343 single base substitution C T intron_variant SKCA-BR 1 45033676 45033676 single base substitution C T intron_variant SKCA-BR 1 45033866 45033866 single base substitution G A intron_variant SKCA-BR 1 45034866 45034866 single base substitution G T intron_variant SKCA-BR 1 45035130 45035130 single base substitution G A intron_variant SKCA-BR 1 45035892 45035892 single base substitution G T intron_variant SKCA-BR 1 45035930 45035930 single base substitution C T intron_variant SKCA-BR 1 45036530 45036530 single base substitution G T intron_variant SKCA-BR 1 45037427 45037427 single base substitution C T intron_variant SKCA-BR 1 45037783 45037783 single base substitution G A intron_variant SKCA-BR 1 45038284 45038284 single base substitution A C intron_variant SKCA-BR 1 45038320 45038320 single base substitution A C intron_variant SKCA-BR 1 45039758 45039758 single base substitution A G intron_variant SKCA-BR 1 45042807 45042807 single base substitution G A intron_variant SKCA-BR 1 45044316 45044316 single base substitution C T intron_variant SKCA-BR 1 45044614 45044614 single base substitution G A intron_variant SKCA-BR 1 45044852 45044852 single base substitution G A intron_variant SKCA-BR 1 45045767 45045767 single base substitution G A intron_variant SKCA-BR 1 45045923 45045923 single base substitution C T intron_variant SKCA-BR 1 45048493 45048493 single base substitution C T intron_variant SKCA-BR 1 45049365 45049365 single base substitution T G intron_variant SKCA-BR 1 45049384 45049384 single base substitution G T intron_variant SKCA-BR 1 45050211 45050211 single base substitution C T intron_variant SKCA-BR 1 45051966 45051966 single base substitution G A intron_variant SKCA-BR 1 45053012 45053012 single base substitution T C intron_variant SKCA-BR 1 45054643 45054643 single base substitution C T intron_variant SKCA-BR 1 45054763 45054763 single base substitution G T intron_variant SKCA-BR 1 45061593 45061593 single base substitution G A intron_variant SKCA-BR 1 45062402 45062402 single base substitution G A intron_variant SKCA-BR 1 45062441 45062441 single base substitution C T intron_variant SKCA-BR 1 45063879 45063879 single base substitution G A intron_variant SKCA-BR 1 45064985 45064985 single base substitution G A intron_variant SKCA-BR 1 45068407 45068407 single base substitution C T intron_variant SKCA-BR 1 45068718 45068718 single base substitution G A intron_variant SKCA-BR 1 45072659 45072659 single base substitution C T intron_variant SKCA-BR 1 45073317 45073317 single base substitution G A intron_variant SKCA-BR 1 45073822 45073822 single base substitution C T intron_variant SKCA-BR 1 45076982 45076982 single base substitution C T intron_variant SKCA-BR 1 45076982 45076982 single base substitution C T upstream_gene_variant SKCA-BR 1 45077310 45077310 single base substitution C T intron_variant SKCA-BR 1 45077310 45077310 single base substitution C T upstream_gene_variant SKCA-BR 1 45077797 45077797 single base substitution C T intron_variant SKCA-BR 1 45077797 45077797 single base substitution C T upstream_gene_variant SKCA-BR 1 45078705 45078705 single base substitution G A intron_variant SKCA-BR 1 45078705 45078705 single base substitution G A upstream_gene_variant SKCA-BR 1 45081526 45081526 single base substitution T C intron_variant SKCA-BR 1 45083013 45083013 single base substitution T C intron_variant SKCA-BR 1 45083253 45083253 single base substitution T G intron_variant SKCA-BR 1 45085103 45085103 single base substitution G C intron_variant SKCA-BR 1 45085320 45085320 single base substitution G A intron_variant SKCA-BR 1 45088053 45088053 single base substitution C T intron_variant SKCA-BR 1 45088053 45088053 single base substitution C T upstream_gene_variant SKCA-BR 1 45089223 45089223 single base substitution C T intron_variant SKCA-BR 1 45089223 45089223 single base substitution C T upstream_gene_variant SKCA-BR 1 45091606 45091606 single base substitution T G intron_variant SKCA-BR 1 45091606 45091606 single base substitution T G upstream_gene_variant SKCA-BR 1 45091662 45091662 single base substitution G A intron_variant SKCA-BR 1 45091662 45091662 single base substitution G A upstream_gene_variant SKCA-BR 1 45092493 45092493 single base substitution G A exon_variant SKCA-BR 1 45092493 45092493 single base substitution G A intron_variant SKCA-BR 1 45092493 45092493 single base substitution G A upstream_gene_variant SKCA-BR 1 45092604 45092604 single base substitution G A exon_variant SKCA-BR 1 45092604 45092604 single base substitution G A intron_variant SKCA-BR 1 45092604 45092604 single base substitution G A upstream_gene_variant SKCA-BR 1 45094279 45094279 single base substitution T C downstream_gene_variant SKCA-BR 1 45094279 45094279 single base substitution T C intron_variant SKCA-BR 1 45094279 45094279 single base substitution T C upstream_gene_variant SKCA-BR 1 45094997 45094997 single base substitution G C downstream_gene_variant SKCA-BR 1 45094997 45094997 single base substitution G C intron_variant SKCA-BR 1 45094997 45094997 single base substitution G C upstream_gene_variant SKCA-BR 1 45106228 45106228 single base substitution C T downstream_gene_variant SKCA-BR 1 45106228 45106228 single base substitution C T intron_variant SKCA-BR 1 45106228 45106228 single base substitution C T upstream_gene_variant SKCA-BR 1 45111440 45111440 single base substitution A G downstream_gene_variant SKCA-BR 1 45111440 45111440 single base substitution A G intron_variant SKCA-BR 1 45111440 45111440 single base substitution A G upstream_gene_variant SKCA-BR 1 45118659 45118659 single base substitution G T downstream_gene_variant SKCA-BR 1 45120301 45120301 single base substitution T G downstream_gene_variant SKCM-US 1 44877799 44877799 single base substitution G A downstream_gene_variant SKCM-US 1 44877799 44877799 single base substitution G A missense_variant M10I 30G>A SKCM-US 1 44877799 44877799 single base substitution G A upstream_gene_variant SKCM-US 1 44877835 44877835 single base substitution C T downstream_gene_variant SKCM-US 1 44877835 44877835 single base substitution C T synonymous_variant S22S 66C>T SKCM-US 1 44877835 44877835 single base substitution C T upstream_gene_variant SKCM-US 1 44878025 44878025 single base substitution C T downstream_gene_variant SKCM-US 1 44878025 44878025 single base substitution C T missense_variant R86C 256C>T SKCM-US 1 44878025 44878025 single base substitution C T upstream_gene_variant SKCM-US 1 44878033 44878033 single base substitution C T downstream_gene_variant SKCM-US 1 44878033 44878033 single base substitution C T synonymous_variant F88F 264C>T SKCM-US 1 44878033 44878033 single base substitution C T upstream_gene_variant SKCM-US 1 44878037 44878037 single base substitution C T downstream_gene_variant SKCM-US 1 44878037 44878037 single base substitution C T missense_variant P90S 268C>T SKCM-US 1 44878037 44878037 single base substitution C T upstream_gene_variant SKCM-US 1 44878091 44878091 single base substitution C T downstream_gene_variant SKCM-US 1 44878091 44878091 single base substitution C T missense_variant P108S 322C>T SKCM-US 1 44878091 44878091 single base substitution C T upstream_gene_variant SKCM-US 1 44878220 44878220 single base substitution C T downstream_gene_variant SKCM-US 1 44878220 44878220 single base substitution C T missense_variant P151S 451C>T SKCM-US 1 44878220 44878220 single base substitution C T upstream_gene_variant SKCM-US 1 45079881 45079881 single base substitution T C 5_prime_UTR_variant SKCM-US 1 45079881 45079881 single base substitution T C missense_variant C224R 670T>C SKCM-US 1 45079881 45079881 single base substitution T C upstream_gene_variant SKCM-US 1 45088459 45088459 single base substitution G C missense_variant K268N 804G>C SKCM-US 1 45088459 45088459 single base substitution G C missense_variant K29N 87G>C SKCM-US 1 45088459 45088459 single base substitution G C splice_region_variant SKCM-US 1 45088459 45088459 single base substitution G C upstream_gene_variant SKCM-US 1 45091971 45091971 single base substitution C T splice_region_variant SKCM-US 1 45091971 45091971 single base substitution C T upstream_gene_variant SKCM-US 1 45110434 45110434 single base substitution T C exon_variant SKCM-US 1 45110434 45110434 single base substitution T C synonymous_variant D113D 339T>C SKCM-US 1 45110434 45110434 single base substitution T C synonymous_variant D139D 417T>C SKCM-US 1 45110434 45110434 single base substitution T C synonymous_variant D184D 552T>C SKCM-US 1 45110434 45110434 single base substitution T C synonymous_variant D397D 1191T>C SKCM-US 1 45110434 45110434 single base substitution T C upstream_gene_variant SKCM-US 1 45120414 45120414 single base substitution C T downstream_gene_variant SKCM-US 1 45120617 45120617 single base substitution T C downstream_gene_variant SKCM-US 1 45120814 45120814 single base substitution G A downstream_gene_variant STAD-US 1 44877843 44877843 single base substitution T G downstream_gene_variant STAD-US 1 44877843 44877843 single base substitution T G missense_variant L25R 74T>G STAD-US 1 44877843 44877843 single base substitution T G upstream_gene_variant STAD-US 1 44877906 44877906 single base substitution G A downstream_gene_variant STAD-US 1 44877906 44877906 single base substitution G A missense_variant R46Q 137G>A STAD-US 1 44877906 44877906 single base substitution G A upstream_gene_variant STAD-US 1 44877961 44877961 single base substitution C T downstream_gene_variant STAD-US 1 44877961 44877961 single base substitution C T synonymous_variant N64N 192C>T STAD-US 1 44877961 44877961 single base substitution C T upstream_gene_variant STAD-US 1 44878012 44878012 single base substitution C A downstream_gene_variant STAD-US 1 44878012 44878012 single base substitution C A synonymous_variant G81G 243C>A STAD-US 1 44878012 44878012 single base substitution C A upstream_gene_variant STAD-US 1 44878019 44878019 single base substitution G A downstream_gene_variant STAD-US 1 44878019 44878019 single base substitution G A missense_variant A84T 250G>A STAD-US 1 44878019 44878019 single base substitution G A upstream_gene_variant STAD-US 1 44878227 44878227 single base substitution T A downstream_gene_variant STAD-US 1 44878227 44878227 single base substitution T A stop_gained L153* 458T>A STAD-US 1 44878227 44878227 single base substitution T A upstream_gene_variant STAD-US 1 44878229 44878229 single base substitution C T downstream_gene_variant STAD-US 1 44878229 44878229 single base substitution C T missense_variant R154C 460C>T STAD-US 1 44878229 44878229 single base substitution C T upstream_gene_variant STAD-US 1 44878287 44878287 deletion of <=200bp C - downstream_gene_variant STAD-US 1 44878287 44878287 deletion of <=200bp C - frameshift_variant S173 STAD-US 1 44878287 44878287 deletion of <=200bp C - upstream_gene_variant STAD-US 1 44878323 44878323 single base substitution A C downstream_gene_variant STAD-US 1 44878323 44878323 single base substitution A C missense_variant K185T 554A>C STAD-US 1 44878323 44878323 single base substitution A C upstream_gene_variant STAD-US 1 45079871 45079871 single base substitution G A 5_prime_UTR_variant STAD-US 1 45079871 45079871 single base substitution G A synonymous_variant Q220Q 660G>A STAD-US 1 45079871 45079871 single base substitution G A upstream_gene_variant STAD-US 1 45110700 45110700 single base substitution C T exon_variant STAD-US 1 45110700 45110700 single base substitution C T synonymous_variant G135G 405C>T STAD-US 1 45110700 45110700 single base substitution C T synonymous_variant G161G 483C>T STAD-US 1 45110700 45110700 single base substitution C T synonymous_variant G206G 618C>T STAD-US 1 45110700 45110700 single base substitution C T synonymous_variant G419G 1257C>T STAD-US 1 45110700 45110700 single base substitution C T upstream_gene_variant STAD-US 1 45111136 45111136 single base substitution C T downstream_gene_variant STAD-US 1 45111136 45111136 single base substitution C T exon_variant STAD-US 1 45111136 45111136 single base substitution C T missense_variant T190I 569C>T STAD-US 1 45111136 45111136 single base substitution C T missense_variant T216I 647C>T STAD-US 1 45111136 45111136 single base substitution C T missense_variant T261I 782C>T STAD-US 1 45111136 45111136 single base substitution C T missense_variant T474I 1421C>T STAD-US 1 45111136 45111136 single base substitution C T upstream_gene_variant STAD-US 1 45111159 45111162 deletion of <=200bp AAGT - downstream_gene_variant STAD-US 1 45111159 45111162 deletion of <=200bp AAGT - frameshift_variant K198 STAD-US 1 45111159 45111162 deletion of <=200bp AAGT - frameshift_variant K224 STAD-US 1 45111159 45111162 deletion of <=200bp AAGT - frameshift_variant K269 STAD-US 1 45111159 45111162 deletion of <=200bp AAGT - frameshift_variant K482 STAD-US 1 45111159 45111162 deletion of <=200bp AAGT - splice_donor_variant STAD-US 1 45111159 45111162 deletion of <=200bp AAGT - upstream_gene_variant STAD-US 1 45115379 45115379 single base substitution C T downstream_gene_variant STAD-US 1 45115379 45115379 single base substitution C T exon_variant STAD-US 1 45115379 45115379 single base substitution C T missense_variant R214W 640C>T STAD-US 1 45115379 45115379 single base substitution C T missense_variant R240W 718C>T STAD-US 1 45115379 45115379 single base substitution C T missense_variant R285W 853C>T STAD-US 1 45115379 45115379 single base substitution C T missense_variant R498W 1492C>T STAD-US 1 45115605 45115605 single base substitution C T downstream_gene_variant STAD-US 1 45115605 45115605 single base substitution C T exon_variant STAD-US 1 45115605 45115605 single base substitution C T synonymous_variant C251C 753C>T STAD-US 1 45115605 45115605 single base substitution C T synonymous_variant C322C 966C>T STAD-US 1 45115605 45115605 single base substitution C T synonymous_variant C535C 1605C>T STAD-US 1 45116433 45116433 single base substitution A G downstream_gene_variant STAD-US 1 45116433 45116433 single base substitution A G exon_variant STAD-US 1 45116433 45116433 single base substitution A G missense_variant R350G 1048A>G STAD-US 1 45116433 45116433 single base substitution A G missense_variant R563G 1687A>G STAD-US 1 45120336 45120336 single base substitution A G downstream_gene_variant STAD-US 1 45120404 45120404 single base substitution C T downstream_gene_variant STAD-US 1 45120473 45120473 single base substitution G T downstream_gene_variant STAD-US 1 45120509 45120509 single base substitution C G downstream_gene_variant STAD-US 1 45120567 45120567 single base substitution G A downstream_gene_variant STAD-US 1 45120723 45120723 single base substitution G A downstream_gene_variant THCA-US 1 45120353 45120353 single base substitution G A downstream_gene_variant UCEC-US 1 44877784 44877784 single base substitution G A exon_variant UCEC-US 1 44877784 44877784 single base substitution G A synonymous_variant R5R 15G>A UCEC-US 1 44877784 44877784 single base substitution G A upstream_gene_variant UCEC-US 1 44877875 44877875 single base substitution C T downstream_gene_variant UCEC-US 1 44877875 44877875 single base substitution C T missense_variant R36C 106C>T UCEC-US 1 44877875 44877875 single base substitution C T upstream_gene_variant UCEC-US 1 44877906 44877906 single base substitution G C downstream_gene_variant UCEC-US 1 44877906 44877906 single base substitution G C missense_variant R46P 137G>C UCEC-US 1 44877906 44877906 single base substitution G C upstream_gene_variant UCEC-US 1 44878147 44878147 single base substitution C T downstream_gene_variant UCEC-US 1 44878147 44878147 single base substitution C T synonymous_variant T126T 378C>T UCEC-US 1 44878147 44878147 single base substitution C T upstream_gene_variant UCEC-US 1 45079862 45079862 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 45079862 45079862 single base substitution C T synonymous_variant F217F 651C>T UCEC-US 1 45079862 45079862 single base substitution C T upstream_gene_variant UCEC-US 1 45079902 45079902 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 45079902 45079902 single base substitution C A missense_variant L231M 691C>A UCEC-US 1 45079902 45079902 single base substitution C A upstream_gene_variant UCEC-US 1 45088413 45088413 single base substitution G A splice_acceptor_variant UCEC-US 1 45088413 45088413 single base substitution G A upstream_gene_variant UCEC-US 1 45110737 45110737 single base substitution C T exon_variant UCEC-US 1 45110737 45110737 single base substitution C T missense_variant R148W 442C>T UCEC-US 1 45110737 45110737 single base substitution C T missense_variant R174W 520C>T UCEC-US 1 45110737 45110737 single base substitution C T missense_variant R219W 655C>T UCEC-US 1 45110737 45110737 single base substitution C T missense_variant R432W 1294C>T UCEC-US 1 45110737 45110737 single base substitution C T upstream_gene_variant UCEC-US 1 45111129 45111129 single base substitution C T downstream_gene_variant UCEC-US 1 45111129 45111129 single base substitution C T exon_variant UCEC-US 1 45111129 45111129 single base substitution C T stop_gained Q188* 562C>T UCEC-US 1 45111129 45111129 single base substitution C T stop_gained Q214* 640C>T UCEC-US 1 45111129 45111129 single base substitution C T stop_gained Q259* 775C>T UCEC-US 1 45111129 45111129 single base substitution C T stop_gained Q472* 1414C>T UCEC-US 1 45111129 45111129 single base substitution C T upstream_gene_variant UCEC-US 1 45120360 45120360 single base substitution G C downstream_gene_variant UCEC-US 1 45120376 45120376 single base substitution C T downstream_gene_variant UCEC-US 1 45120404 45120404 single base substitution C T downstream_gene_variant UCEC-US 1 45120573 45120573 single base substitution G A downstream_gene_variant UCEC-US 1 45120782 45120782 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand RK062_C01 COSM1627084 c.1051A>C p.N351H Substitution - Missense 1:44636087-44636087 + Gp5D COSM2171641 c.234G>T p.G78G Substitution - coding silent 1:44412331-44412331 + Gp2D COSM2171641 c.234G>T p.G78G Substitution - coding silent 1:44412331-44412331 + TCGA-34-5927-01 COSM681227 c.257G>T p.R86L Substitution - Missense 1:44412354-44412354 + TCGA-A8-A0A6-01 COSM3805370 c.287A>C p.H96P Substitution - Missense 1:44412384-44412384 + 2217530 COSM4421920 c.221A>G p.H74R Substitution - Missense 1:44412318-44412318 + HCC2998 COSM2171656 c.585T>G p.D195E Substitution - Missense 1:44412682-44412682 + YUMEZ COSM5381083 c.1078G>A p.G360R Substitution - Missense 1:44636114-44636114 + PT09_2 COSM3490123 c.256C>T p.R86C Substitution - Missense 1:44412353-44412353 + ESO-H01 COSM1264393 c.1456G>T p.D486Y Substitution - Missense 1:44649671-44649671 + PT09_2 COSM3490124 c.256C>T p.R86C Substitution - Missense 1:44412353-44412353 + 9227_T COSM5042670 c.265C>T p.P89S Substitution - Missense 1:44412362-44412362 + Au3 COSM3490125 c.264C>T p.F88F Substitution - coding silent 1:44412361-44412361 + S00944 COSM314856 c.224G>T p.R75L Substitution - Missense 1:44412321-44412321 + TCGA-18-3421-01 COSM681223 c.1073G>T p.W358L Substitution - Missense 1:44636109-44636109 + Pat_32_B COSM5846806 c.484G>A p.E162K Substitution - Missense 1:44412581-44412581 + T3262 COSM4722161 c.604C>A p.P202T Substitution - Missense 1:44412701-44412701 + SWE-3A COSM1178266 c.762G>A p.K254K Substitution - coding silent 1:44622745-44622745 + 18 COSM3689722 c.410C>T p.T137M Substitution - Missense 1:44412507-44412507 + TCGA-IR-A3LL-01 COSM4849687 c.223C>T p.R75W Substitution - Missense 1:44412320-44412320 + TCGA-B7-5816-01 COSM4008396 c.460C>T p.R154C Substitution - Missense 1:44412557-44412557 + SNU-175 COSM2171716 c.1602C>T p.H534H Substitution - coding silent 1:44649930-44649930 + TCGA-DA-A1HY-06 COSM3490126 c.264C>T p.F88F Substitution - coding silent 1:44412361-44412361 + Au10 COSM5598735 c.356C>T p.A119V Substitution - Missense 1:44412453-44412453 + TCGA-25-1322-01 COSM76271 c.535G>A p.V179I Substitution - Missense 1:44412632-44412632 + ESCC_62 COSM5632975 c.693G>A p.L231L Substitution - coding silent 1:44614232-44614232 + 4-1043259-T1 COSM4745690 c.212C>T p.S71F Substitution - Missense 1:44412309-44412309 + ESCC_62 COSM5632974 c.693G>A p.L231L Substitution - coding silent 1:44614232-44614232 + TCGA-F1-6874-01 COSM4008419 c.1687A>G p.R563G Substitution - Missense 1:44650761-44650761 + HCC120T COSM3705895 c.549G>A p.G183G Substitution - coding silent 1:44412646-44412646 + cSCCP6 COSM136129 c.296T>A p.F99Y Substitution - Missense 1:44412393-44412393 + TCGA-B5-A0K9-01 COSM910017 c.378C>T p.T126T Substitution - coding silent 1:44412475-44412475 + TCGA-A8-A08R-01 COSM426339 c.136C>T p.R46* Substitution - Nonsense 1:44412233-44412233 + TCGA-FS-A1ZK-06 COSM3490124 c.256C>T p.R86C Substitution - Missense 1:44412353-44412353 + TCGA-EB-A5SE-01 COSM3490129 c.804G>C p.K268N Substitution - Missense 1:44622787-44622787 + TCGA-HU-A4G9-01 COSM4008384 c.74T>G p.L25R Substitution - Missense 1:44412171-44412171 + LOVO COSM2171710 c.1576A>G p.T526A Substitution - Missense 1:44649904-44649904 + 49M COSM5592911 c.804+1G>T p.? Unknown 1:44622788-44622788 + TCGA-HU-A4G9-01 COSM4008383 c.74T>G p.L25R Substitution - Missense 1:44412171-44412171 + TCGA-D7-6528-01 COSM4008397 c.554A>C p.K185T Substitution - Missense 1:44412651-44412651 + TCGA-AP-A0LM-01 COSM910025 c.1294C>T p.R432W Substitution - Missense 1:44645065-44645065 + YUPTER COSM5381086 c.1605C>G p.C535W Substitution - Missense 1:44649933-44649933 + TCGA-CU-A3KJ-01 COSM1296484 c.340C>G p.H114D Substitution - Missense 1:44412437-44412437 + 863TCS COSM673536 c.92C>T p.T31M Substitution - Missense 1:44412189-44412189 + TCGA-B5-A11E-01 COSM910018 c.651C>T p.F217F Substitution - coding silent 1:44614190-44614190 + TCGA-D1-A17B-01 COSM910017 c.378C>T p.T126T Substitution - coding silent 1:44412475-44412475 + HCC120 COSM3705896 c.549G>A p.G183G Substitution - coding silent 1:44412646-44412646 + TCGA-GF-A6C9-06 COSM4900979 c.268C>T p.P90S Substitution - Missense 1:44412365-44412365 + S00944 COSM314857 c.224G>T p.R75L Substitution - Missense 1:44412321-44412321 + TCGA-39-5031-01 COSM681221 c.1237G>A p.D413N Substitution - Missense 1:44645008-44645008 + 587284 COSM1223989 c.1224-2A>C p.? Unknown 1:44644993-44644993 + TCGA-F1-6874-01 COSM4008418 c.1687A>G p.R563G Substitution - Missense 1:44650761-44650761 + 2492723 COSM5719271 c.181C>A p.P61T Substitution - Missense 1:44412278-44412278 + Gp5D COSM2171640 c.234G>T p.G78G Substitution - coding silent 1:44412331-44412331 + TCGA-EQ-A4SO-01 COSM4008389 c.243C>A p.G81G Substitution - coding silent 1:44412340-44412340 + TCGA-BR-8361-01 COSM4008411 c.1492C>T p.R498W Substitution - Missense 1:44649707-44649707 + S02065 COSM5141885 c.852G>A p.T284T Substitution - coding silent 1:44626344-44626344 + TCGA-A7-A3RF-01 COSM3805368 c.46C>T p.L16F Substitution - Missense 1:44412143-44412143 + 578 COSM3723395 c.382G>A p.D128N Substitution - Missense 1:44412479-44412479 + DLD1 COSM2171682 c.971G>A p.R324Q Substitution - Missense 1:44635566-44635566 + ME002T COSM221907 c.838G>A p.G280R Substitution - Missense 1:44626330-44626330 + PT48 COSM5930713 c.182C>T p.P61L Substitution - Missense 1:44412279-44412279 + 1_PRE-TREATMENT COSM1720281 c.1554_1554+3delGGTG p.? Unknown 1:44649769-44649772 + TCGA-EE-A3JD-06 COSM3490124 c.256C>T p.R86C Substitution - Missense 1:44412353-44412353 + BD6T COSM910013 c.106C>T p.R36C Substitution - Missense 1:44412203-44412203 + CH-54-T2 COSM5650941 c.686T>A p.V229D Substitution - Missense 1:44614225-44614225 + TCGA-EE-A2A5-06 COSM3490119 c.30G>A p.M10I Substitution - Missense 1:44412127-44412127 + C32 COSM4619032 c.1606G>A p.E536K Substitution - Missense 1:44649934-44649934 + PT48 COSM5930714 c.182C>T p.P61L Substitution - Missense 1:44412279-44412279 + HT115 COSM910018 c.651C>T p.F217F Substitution - coding silent 1:44614190-44614190 + CSCC-20-T COSM4589649 c.141_142insT p.G49fs*7 Insertion - Frameshift 1:44412238-44412239 + TCGA-EW-A1PD-01 COSM1474030 c.1156G>C p.E386Q Substitution - Missense 1:44644727-44644727 + Pat_76_B COSM910024 c.1294C>T p.R432W Substitution - Missense 1:44645065-44645065 + 1342576 COSM51312 c.475G>A p.D159N Substitution - Missense 1:44412572-44412572 + TCGA-B5-A0JY-01 COSM910023 c.759-1G>A p.? Unknown 1:44622741-44622741 + DLD1 COSM4622965 c.608A>T p.E203V Substitution - Missense 1:44412705-44412705 + HCT15 COSM2171682 c.971G>A p.R324Q Substitution - Missense 1:44635566-44635566 + HCC55T COSM3705898 c.1675G>T p.G559* Substitution - Nonsense 1:44650749-44650749 + TCGA-EP-A2KC-01 COSM4913694 c.1399A>T p.K467* Substitution - Nonsense 1:44645442-44645442 + TCGA-D1-A17Q-01 COSM910025 c.1294C>T p.R432W Substitution - Missense 1:44645065-44645065 + TCGA-A6-6781-01 COSM1342980 c.970C>T p.R324W Substitution - Missense 1:44635565-44635565 + TCGA-CA-6717-01 COSM426339 c.136C>T p.R46* Substitution - Nonsense 1:44412233-44412233 + TCGA-GF-A6C9-06 COSM4900978 c.268C>T p.P90S Substitution - Missense 1:44412365-44412365 + 2492723 COSM5719272 c.181C>A p.P61T Substitution - Missense 1:44412278-44412278 + T3262 COSM4722162 c.604C>A p.P202T Substitution - Missense 1:44412701-44412701 + TCGA-BR-8487-01 COSM4008392 c.250G>A p.A84T Substitution - Missense 1:44412347-44412347 + B34-Tumor COSM1748470 c.941G>A p.R314Q Substitution - Missense 1:44632377-44632377 + TCGA-B5-A11E-01 COSM910012 c.106C>T p.R36C Substitution - Missense 1:44412203-44412203 + TCGA-BR-4184-01 COSM4008401 c.1257C>T p.G419G Substitution - coding silent 1:44645028-44645028 + T3498 COSM3490124 c.256C>T p.R86C Substitution - Missense 1:44412353-44412353 + DLD1 COSM2171681 c.971G>A p.R324Q Substitution - Missense 1:44635566-44635566 + TCGA-36-2547-01 COSM1321041 c.617A>T p.N206I Substitution - Missense 1:44412714-44412714 + TCGA-A6-5665-01 COSM1342968 c.435C>A p.C145* Substitution - Nonsense 1:44412532-44412532 + TCGA-A8-A0A6-01 COSM3805369 c.287A>C p.H96P Substitution - Missense 1:44412384-44412384 + SW480 COSM4655647 c.1487A>T p.K496M Substitution - Missense 1:44649702-44649702 + CSCC-5-T COSM4567457 c.720_721GG>AA p.M240_E241>IK Complex - compound substitution 1:44614259-44614260 + YUOTHO COSM5381080 c.178A>T p.I60F Substitution - Missense 1:44412275-44412275 + 2217530 COSM4421922 c.292C>A p.Q98K Substitution - Missense 1:44412389-44412389 + AOCS-137-1-X COSM3944115 c.54C>A p.N18K Substitution - Missense 1:44412151-44412151 + TCGA-D7-6528-01 COSM4008398 c.554A>C p.K185T Substitution - Missense 1:44412651-44412651 + Au3 COSM5602213 c.422G>A p.R141Q Substitution - Missense 1:44412519-44412519 + 61 COSM5735436 c.713A>G p.E238G Substitution - Missense 1:44614252-44614252 + TCGA-CF-A1HR-01 COSM414891 c.1446-1G>A p.? Unknown 1:44649660-44649660 + Pat_76_A COSM910024 c.1294C>T p.R432W Substitution - Missense 1:44645065-44645065 + HCC55T COSM3705897 c.1675G>T p.G559* Substitution - Nonsense 1:44650749-44650749 + TCGA-F4-6461-01 COSM3689721 c.410C>T p.T137M Substitution - Missense 1:44412507-44412507 + RK058_C01 COSM1627086 c.1545C>T p.L515L Substitution - coding silent 1:44649760-44649760 + HCC120 COSM3705895 c.549G>A p.G183G Substitution - coding silent 1:44412646-44412646 + TCGA-B5-A0JY-01 COSM910022 c.759-1G>A p.? Unknown 1:44622741-44622741 + 065T COSM1730259 c.630G>T p.K210N Substitution - Missense 1:44614169-44614169 + S00035 COSM5656608 c.947A>T p.N316I Substitution - Missense 1:44632383-44632383 + TCGA-D7-5579-01 COSM4008393 c.458T>A p.L153* Substitution - Nonsense 1:44412555-44412555 + TCGA-AZ-4315-01 COSM1342977 c.613C>T p.R205W Substitution - Missense 1:44412710-44412710 + 2492722 COSM5719272 c.181C>A p.P61T Substitution - Missense 1:44412278-44412278 + TCGA-EE-A2MR-06 COSM3490122 c.66C>T p.S22S Substitution - coding silent 1:44412163-44412163 + 61 COSM5735434 c.379G>A p.E127K Substitution - Missense 1:44412476-44412476 + TCGA-A2-A0T5-01 COSM3805371 c.906+7A>G p.? Unknown 1:44626405-44626405 + TCGA-D1-A163-01 COSM910011 c.15G>A p.R5R Substitution - coding silent 1:44412112-44412112 + TCGA-G9-6338-01 COSM3671777 c.303C>A p.P101P Substitution - coding silent 1:44412400-44412400 + ESO-H01 COSM1264394 c.1456G>T p.D486Y Substitution - Missense 1:44649671-44649671 + U2940 COSM5621718 c.974G>A p.R325K Substitution - Missense 1:44635569-44635569 + Pat_76_B COSM910025 c.1294C>T p.R432W Substitution - Missense 1:44645065-44645065 + SH-0546 COSM5018223 c.353G>A p.G118E Substitution - Missense 1:44412450-44412450 + 2492721 COSM5719271 c.181C>A p.P61T Substitution - Missense 1:44412278-44412278 + PD11752a COSM5783162 c.318C>A p.C106* Substitution - Nonsense 1:44412415-44412415 + Pat_32_A COSM5846805 c.484G>A p.E162K Substitution - Missense 1:44412581-44412581 + T2941 COSM4722164 c.953G>A p.R318Q Substitution - Missense 1:44635548-44635548 + 49M COSM5592912 c.804+1G>T p.? Unknown 1:44622788-44622788 + TCGA-BR-8372-01 COSM4008399 c.660G>A p.Q220Q Substitution - coding silent 1:44614199-44614199 + TCGA-A6-6781-01 COSM1342981 c.970C>T p.R324W Substitution - Missense 1:44635565-44635565 + TCGA-39-5031-01 COSM681222 c.1237G>A p.D413N Substitution - Missense 1:44645008-44645008 + LOVO COSM2171709 c.1576A>G p.T526A Substitution - Missense 1:44649904-44649904 + 2492720 COSM5719272 c.181C>A p.P61T Substitution - Missense 1:44412278-44412278 + PT45 COSM5927180 c.323C>T p.P108L Substitution - Missense 1:44412420-44412420 + TCGA-CG-5733-01 COSM4008415 c.1605C>T p.C535C Substitution - coding silent 1:44649933-44649933 + pfg127T COSM4754168 c.854C>T p.A285V Substitution - Missense 1:44626346-44626346 + PD4833a COSM5787612 c.166A>T p.K56* Substitution - Nonsense 1:44412263-44412263 + PT09_1 COSM3490123 c.256C>T p.R86C Substitution - Missense 1:44412353-44412353 + RK062_C01 COSM1627083 c.1051A>C p.N351H Substitution - Missense 1:44636087-44636087 + HCC152T COSM5807160 c.62C>T p.A21V Substitution - Missense 1:44412159-44412159 + SNU-C2B COSM2171695 c.1295G>A p.R432Q Substitution - Missense 1:44645066-44645066 + 61 COSM5735435 c.713A>G p.E238G Substitution - Missense 1:44614252-44614252 + SWE-3A COSM1178267 c.762G>A p.K254K Substitution - coding silent 1:44622745-44622745 + S02065 COSM5141884 c.852G>A p.T284T Substitution - coding silent 1:44626344-44626344 + CH-54-T2 COSM5650940 c.686T>A p.V229D Substitution - Missense 1:44614225-44614225 + TCGA-B0-5705-01 COSM464671 c.280C>A p.H94N Substitution - Missense 1:44412377-44412377 + T3498 COSM3490123 c.256C>T p.R86C Substitution - Missense 1:44412353-44412353 + TCGA-FW-A3R5-06 COSM3865661 c.670T>C p.C224R Substitution - Missense 1:44614209-44614209 + cSCCP6 COSM136130 c.296T>A p.F99Y Substitution - Missense 1:44412393-44412393 + YUPTER COSM5381087 c.1605C>G p.C535W Substitution - Missense 1:44649933-44649933 + TCGA-BR-4184-01 COSM4008402 c.1257C>T p.G419G Substitution - coding silent 1:44645028-44645028 + 2217530 COSM4421919 c.221A>G p.H74R Substitution - Missense 1:44412318-44412318 + TCGA-FW-A3R5-06 COSM3865660 c.451C>T p.P151S Substitution - Missense 1:44412548-44412548 + Au3 COSM5602212 c.422G>A p.R141Q Substitution - Missense 1:44412519-44412519 + sysucc-311T COSM5478696 c.523G>A p.G175S Substitution - Missense 1:44412620-44412620 + YUMEZ COSM5381082 c.1078G>A p.G360R Substitution - Missense 1:44636114-44636114 + T368 COSM4722167 c.1328C>T p.T443M Substitution - Missense 1:44645238-44645238 + HCC2998 COSM2171657 c.585T>G p.D195E Substitution - Missense 1:44412682-44412682 + S00539 COSM314854 c.1184A>T p.D395V Substitution - Missense 1:44644755-44644755 + TCGA-BT-A20P-01 COSM414892 c.975G>A p.R325R Substitution - coding silent 1:44635570-44635570 + TCGA-BR-8372-01 COSM4008400 c.660G>A p.Q220Q Substitution - coding silent 1:44614199-44614199 + TCGA-D1-A17Q-01 COSM910024 c.1294C>T p.R432W Substitution - Missense 1:44645065-44645065 + TCGA-FS-A1ZK-06 COSM3490123 c.256C>T p.R86C Substitution - Missense 1:44412353-44412353 + 585260 COSM323093 c.160G>T p.V54F Substitution - Missense 1:44412257-44412257 + TCGA-BP-4763-01 COSM3360919 c.911T>C p.F304S Substitution - Missense 1:44632347-44632347 + 11T COSM3711566 c.602G>T p.S201I Substitution - Missense 1:44412699-44412699 + SNU-C2B COSM2171694 c.1295G>A p.R432Q Substitution - Missense 1:44645066-44645066 + U2940 COSM5621717 c.974G>A p.R325K Substitution - Missense 1:44635569-44635569 + HCC55 COSM3705898 c.1675G>T p.G559* Substitution - Nonsense 1:44650749-44650749 + CSCC-56-T COSM4455607 c.832A>C p.R278R Substitution - coding silent 1:44626324-44626324 + TCGA-BT-A20P-01 COSM414893 c.975G>A p.R325R Substitution - coding silent 1:44635570-44635570 + TCGA-B5-A11E-01 COSM910013 c.106C>T p.R36C Substitution - Missense 1:44412203-44412203 + 11T COSM3711565 c.602G>T p.S201I Substitution - Missense 1:44412699-44412699 + OSCC-GB_00110111 COSM3711566 c.602G>T p.S201I Substitution - Missense 1:44412699-44412699 + PD4833a COSM5787611 c.166A>T p.K56* Substitution - Nonsense 1:44412263-44412263 + PT09_1 COSM3490124 c.256C>T p.R86C Substitution - Missense 1:44412353-44412353 + TCGA-D1-A103-01 COSM910020 c.691C>A p.L231M Substitution - Missense 1:44614230-44614230 + TCGA-B7-5816-01 COSM4008395 c.460C>T p.R154C Substitution - Missense 1:44412557-44412557 + TCGA-AP-A0LI-01 COSM910015 c.137G>C p.R46P Substitution - Missense 1:44412234-44412234 + TCGA-BP-4763-01 COSM3360918 c.911T>C p.F304S Substitution - Missense 1:44632347-44632347 + 07-058 COSM3735967 c.652G>A p.D218N Substitution - Missense 1:44614191-44614191 + Pat_32_A COSM5846806 c.484G>A p.E162K Substitution - Missense 1:44412581-44412581 + TCGA-EE-A29L-06 COSM3490128 c.322C>T p.P108S Substitution - Missense 1:44412419-44412419 + H442 COSM5043961 c.569C>G p.S190C Substitution - Missense 1:44412666-44412666 + TCGA-A8-A08R-01 COSM426340 c.136C>T p.R46* Substitution - Nonsense 1:44412233-44412233 + 61 COSM5735437 c.1093C>T p.R365W Substitution - Missense 1:44636129-44636129 + TCGA-HU-8602-01 COSM4008405 c.1421C>T p.T474I Substitution - Missense 1:44645464-44645464 + TCGA-CF-A1HR-01 COSM414890 c.1446-1G>A p.? Unknown 1:44649660-44649660 + S00539 COSM314854 c.1184A>T p.D395V Substitution - Missense 1:44644755-44644755 + HCC83T COSM3746184 c.1109T>C p.L370P Substitution - Missense 1:44636145-44636145 + TCGA-EE-A29B-06 COSM3490133 c.807C>T p.S269S Substitution - coding silent 1:44626299-44626299 + S00944 COSM314857 c.224G>T p.R75L Substitution - Missense 1:44412321-44412321 + pfg127T COSM4754169 c.854C>T p.A285V Substitution - Missense 1:44626346-44626346 + 1_RESISTANT COSM1720280 c.1554_1554+3delGGTG p.? Unknown 1:44649769-44649772 + T368 COSM4722168 c.1328C>T p.T443M Substitution - Missense 1:44645238-44645238 + T3048 COSM4722172 c.1685G>A p.R562Q Substitution - Missense 1:44650759-44650759 + TCGA-EB-A5SE-01 COSM3490130 c.804G>C p.K268N Substitution - Missense 1:44622787-44622787 + TCGA-DA-A1HY-06 COSM3490125 c.264C>T p.F88F Substitution - coding silent 1:44412361-44412361 + 585260 COSM323092 c.160G>T p.V54F Substitution - Missense 1:44412257-44412257 + 1_PRE-TREATMENT COSM1720280 c.1554_1554+3delGGTG p.? Unknown 1:44649769-44649772 + TCGA-FW-A3R5-06 COSM3865662 c.670T>C p.C224R Substitution - Missense 1:44614209-44614209 + TCGA-B5-A11E-01 COSM910019 c.651C>T p.F217F Substitution - coding silent 1:44614190-44614190 + B34 COSM1748470 c.941G>A p.R314Q Substitution - Missense 1:44632377-44632377 + TCGA-EE-A29B-06 COSM3490132 c.807C>T p.S269S Substitution - coding silent 1:44626299-44626299 + sysucc-311T COSM5478695 c.523G>A p.G175S Substitution - Missense 1:44412620-44412620 + HCC152T COSM5807161 c.62C>T p.A21V Substitution - Missense 1:44412159-44412159 + LIM2551 COSM4643842 c.1040A>C p.H347P Substitution - Missense 1:44636076-44636076 + CSCC-29-T COSM4552196 c.552G>A p.K184K Substitution - coding silent 1:44412649-44412649 + YUMOOK COSM1687601 c.1078_1079GG>AA p.G360K Substitution - Missense 1:44636114-44636115 + HCC55 COSM3705897 c.1675G>T p.G559* Substitution - Nonsense 1:44650749-44650749 + TCGA-CA-6717-01 COSM426340 c.136C>T p.R46* Substitution - Nonsense 1:44412233-44412233 + 2217530 COSM4421921 c.292C>A p.Q98K Substitution - Missense 1:44412389-44412389 + TCGA-EE-A29L-06 COSM3490127 c.322C>T p.P108S Substitution - Missense 1:44412419-44412419 + 2492722 COSM5719271 c.181C>A p.P61T Substitution - Missense 1:44412278-44412278 + 61 COSM5735433 c.379G>A p.E127K Substitution - Missense 1:44412476-44412476 + TCGA-D9-A6EC-06 COSM4401569 c.1191T>C p.D397D Substitution - coding silent 1:44644762-44644762 + BD6T COSM910012 c.106C>T p.R36C Substitution - Missense 1:44412203-44412203 + LIM2551 COSM4643841 c.1040A>C p.H347P Substitution - Missense 1:44636076-44636076 + TCGA-UC-A7PF-01 COSM4830065 c.1485G>C p.L495L Substitution - coding silent 1:44649700-44649700 + PT45 COSM5927181 c.323C>T p.P108L Substitution - Missense 1:44412420-44412420 + 065T COSM1730260 c.630G>T p.K210N Substitution - Missense 1:44614169-44614169 + 4-1043259-T1 COSM4745689 c.212C>T p.S71F Substitution - Missense 1:44412309-44412309 + YUMOOK COSM1687602 c.1078_1079GG>AA p.G360K Substitution - Missense 1:44636114-44636115 + CSCC-5-T COSM4567458 c.720_721GG>AA p.M240_E241>IK Complex - compound substitution 1:44614259-44614260 + Au3 COSM3490126 c.264C>T p.F88F Substitution - coding silent 1:44412361-44412361 + TCGA-AP-A0LM-01 COSM910024 c.1294C>T p.R432W Substitution - Missense 1:44645065-44645065 + Au10 COSM5598736 c.356C>T p.A119V Substitution - Missense 1:44412453-44412453 + SC_9109 COSM5553414 c.1258G>A p.E420K Substitution - Missense 1:44645029-44645029 + S00539 COSM314855 c.1184A>T p.D395V Substitution - Missense 1:44644755-44644755 + HCC120T COSM3705896 c.549G>A p.G183G Substitution - coding silent 1:44412646-44412646 + S01453 COSM314858 c.1444_1445+2delAAGT p.? Unknown 1:44645487-44645490 + PT48 COSM5930711 c.727G>A p.E243K Substitution - Missense 1:44614266-44614266 + 07-058 COSM3735968 c.652G>A p.D218N Substitution - Missense 1:44614191-44614191 + TCGA-CG-5733-01 COSM4008416 c.1605C>T p.C535C Substitution - coding silent 1:44649933-44649933 + CSCC-20-T COSM4589648 c.141_142insT p.G49fs*7 Insertion - Frameshift 1:44412238-44412239 + 1_RESISTANT COSM1720281 c.1554_1554+3delGGTG p.? Unknown 1:44649769-44649772 + PT14_1 COSM5735433 c.379G>A p.E127K Substitution - Missense 1:44412476-44412476 + TCGA-EE-A3JD-06 COSM3490123 c.256C>T p.R86C Substitution - Missense 1:44412353-44412353 + TCGA-36-2547-01 COSM1321042 c.617A>T p.N206I Substitution - Missense 1:44412714-44412714 + 863TCS COSM673535 c.92C>T p.T31M Substitution - Missense 1:44412189-44412189 + TCGA-EE-A2MR-06 COSM3490121 c.66C>T p.S22S Substitution - coding silent 1:44412163-44412163 + TCGA-A6-5665-01 COSM1342969 c.435C>A p.C145* Substitution - Nonsense 1:44412532-44412532 + TCGA-D1-A103-01 COSM910021 c.691C>A p.L231M Substitution - Missense 1:44614230-44614230 + SW480 COSM4655646 c.1487A>T p.K496M Substitution - Missense 1:44649702-44649702 + PT14_1 COSM5735434 c.379G>A p.E127K Substitution - Missense 1:44412476-44412476 + SC_9109 COSM5553413 c.1258G>A p.E420K Substitution - Missense 1:44645029-44645029 + 2492720 COSM5719271 c.181C>A p.P61T Substitution - Missense 1:44412278-44412278 + TCGA-D9-A6EC-06 COSM4401568 c.1191T>C p.D397D Substitution - coding silent 1:44644762-44644762 + TCGA-24-1556-01 COSM78426 c.592G>T p.A198S Substitution - Missense 1:44412689-44412689 + TCGA-HU-8602-01 COSM4008387 c.192C>T p.N64N Substitution - coding silent 1:44412289-44412289 + TCGA-FW-A3R5-06 COSM3865659 c.451C>T p.P151S Substitution - Missense 1:44412548-44412548 + S00539 COSM314855 c.1184A>T p.D395V Substitution - Missense 1:44644755-44644755 + YUOTHO COSM5381081 c.178A>T p.I60F Substitution - Missense 1:44412275-44412275 + SWE-49 COSM1180179 c.522C>A p.P174P Substitution - coding silent 1:44412619-44412619 + TCGA-CU-A3KJ-01 COSM1296483 c.340C>G p.H114D Substitution - Missense 1:44412437-44412437 + CLN4 COSM5024684 c.1356G>T p.W452C Substitution - Missense 1:44645266-44645266 + 2492721 COSM5719272 c.181C>A p.P61T Substitution - Missense 1:44412278-44412278 + TCGA-34-5927-01 COSM681228 c.257G>T p.R86L Substitution - Missense 1:44412354-44412354 + DLD1 COSM4622964 c.608A>T p.E203V Substitution - Missense 1:44412705-44412705 + TCGA-BR-8487-01 COSM4008391 c.250G>A p.A84T Substitution - Missense 1:44412347-44412347 + B34 COSM1748471 c.941G>A p.R314Q Substitution - Missense 1:44632377-44632377 + HCC83T COSM3746183 c.1109T>C p.L370P Substitution - Missense 1:44636145-44636145 + SNU-175 COSM2171715 c.1602C>T p.H534H Substitution - coding silent 1:44649930-44649930 + BD72T COSM5511508 c.1629+5G>T p.? Unknown 1:44649962-44649962 + TCGA-25-1322-01 COSM76270 c.535G>A p.V179I Substitution - Missense 1:44412632-44412632 + S00944 COSM314856 c.224G>T p.R75L Substitution - Missense 1:44412321-44412321 + ME002T COSM221906 c.838G>A p.G280R Substitution - Missense 1:44626330-44626330 + TCGA-A2-A0T5-01 COSM3805372 c.906+7A>G p.? Unknown 1:44626405-44626405 + TCGA-UC-A7PF-01 COSM4830064 c.1485G>C p.L495L Substitution - coding silent 1:44649700-44649700 + CSCC-29-T COSM4552195 c.552G>A p.K184K Substitution - coding silent 1:44412649-44412649 + TCGA-EQ-A4SO-01 COSM4008390 c.243C>A p.G81G Substitution - coding silent 1:44412340-44412340 + TCGA-JW-A5VL-01 COSM4848031 c.613C>G p.R205G Substitution - Missense 1:44412710-44412710 + TCGA-EE-A2A5-06 COSM3490120 c.30G>A p.M10I Substitution - Missense 1:44412127-44412127 + 9227_T COSM5042669 c.265C>T p.P89S Substitution - Missense 1:44412362-44412362 + BD72T COSM5511509 c.1629+5G>T p.? Unknown 1:44649962-44649962 + PT48 COSM5930710 c.727G>A p.E243K Substitution - Missense 1:44614266-44614266 + Pat_32_B COSM5846805 c.484G>A p.E162K Substitution - Missense 1:44412581-44412581 + TCGA-24-1556-01 COSM78427 c.592G>T p.A198S Substitution - Missense 1:44412689-44412689 + TCGA-HU-8602-01 COSM4008388 c.192C>T p.N64N Substitution - coding silent 1:44412289-44412289 + Pat_76_A COSM910025 c.1294C>T p.R432W Substitution - Missense 1:44645065-44645065 + TCGA-AA-3972-01 COSM297328 c.1116T>C p.G372G Substitution - coding silent 1:44636152-44636152 + TCGA-EW-A1PD-01 COSM1474029 c.1156G>C p.E386Q Substitution - Missense 1:44644727-44644727 + TCGA-F4-6461-01 COSM3689722 c.410C>T p.T137M Substitution - Missense 1:44412507-44412507 + TCGA-BR-8361-01 COSM4008412 c.1492C>T p.R498W Substitution - Missense 1:44649707-44649707 + HCT15 COSM2171681 c.971G>A p.R324Q Substitution - Missense 1:44635566-44635566 + TCGA-BR-4184-01 COSM4008385 c.137G>A p.R46Q Substitution - Missense 1:44412234-44412234 + C32 COSM4619033 c.1606G>A p.E536K Substitution - Missense 1:44649934-44649934 + TCGA-EJ-7331-01 COSM1470210 c.415G>A p.A139T Substitution - Missense 1:44412512-44412512 + PD11752a COSM5783163 c.318C>A p.C106* Substitution - Nonsense 1:44412415-44412415 + TCGA-JW-A5VL-01 COSM4848032 c.613C>G p.R205G Substitution - Missense 1:44412710-44412710 + Gp2D COSM2171640 c.234G>T p.G78G Substitution - coding silent 1:44412331-44412331 + B34-Tumor COSM1748471 c.941G>A p.R314Q Substitution - Missense 1:44632377-44632377 + 61 COSM5735438 c.1093C>T p.R365W Substitution - Missense 1:44636129-44636129 + CLN4 COSM5024683 c.1356G>T p.W452C Substitution - Missense 1:44645266-44645266 + TCGA-D7-5579-01 COSM4008394 c.458T>A p.L153* Substitution - Nonsense 1:44412555-44412555 + CSCC-56-T COSM4455606 c.832A>C p.R278R Substitution - coding silent 1:44626324-44626324 + TCGA-DI-A0WH-01 COSM910027 c.1414C>T p.Q472* Substitution - Nonsense 1:44645457-44645457 + OSCC-GB_00110111 COSM3711565 c.602G>T p.S201I Substitution - Missense 1:44412699-44412699 + RK058_C01 COSM1627085 c.1545C>T p.L515L Substitution - coding silent 1:44649760-44649760 + H442 COSM5043960 c.569C>G p.S190C Substitution - Missense 1:44412666-44412666 + 578 COSM3723394 c.382G>A p.D128N Substitution - Missense 1:44412479-44412479 + TCGA-18-3421-01 COSM681224 c.1073G>T p.W358L Substitution - Missense 1:44636109-44636109 + T3048 COSM4722171 c.1685G>A p.R562Q Substitution - Missense 1:44650759-44650759 + TCGA-BR-4184-01 COSM4008386 c.137G>A p.R46Q Substitution - Missense 1:44412234-44412234 + 587284 COSM1223988 c.1224-2A>C p.? Unknown 1:44644993-44644993 + TCGA-AA-3972-01 COSM297327 c.1116T>C p.G372G Substitution - coding silent 1:44636152-44636152 + AOCS-137-1-X COSM3944114 c.54C>A p.N18K Substitution - Missense 1:44412151-44412151 + SWE-49 COSM1180180 c.522C>A p.P174P Substitution - coding silent 1:44412619-44412619 + TCGA-IR-A3LL-01 COSM4849686 c.223C>T p.R75W Substitution - Missense 1:44412320-44412320 + TCGA-AZ-4315-01 COSM1342976 c.613C>T p.R205W Substitution - Missense 1:44412710-44412710 + S00035 COSM5656607 c.947A>T p.N316I Substitution - Missense 1:44632383-44632383 + TCGA-EP-A2KC-01 COSM4913695 c.1399A>T p.K467* Substitution - Nonsense 1:44645442-44645442 + TCGA-HU-8602-01 COSM4008406 c.1421C>T p.T474I Substitution - Missense 1:44645464-44645464 + TCGA-EJ-7331-01 COSM1470211 c.415G>A p.A139T Substitution - Missense 1:44412512-44412512 + S01453 COSM314859 c.1444_1445+2delAAGT p.? Unknown 1:44645487-44645490 + HT115 COSM910019 c.651C>T p.F217F Substitution - coding silent 1:44614190-44614190 + T2941 COSM4722163 c.953G>A p.R318Q Substitution - Missense 1:44635548-44635548 + SH-0546 COSM5018222 c.353G>A p.G118E Substitution - Missense 1:44412450-44412450 + TCGA-G9-6338-01 COSM3671778 c.303C>A p.P101P Substitution - coding silent 1:44412400-44412400 + TCGA-A7-A3RF-01 COSM3805367 c.46C>T p.L16F Substitution - Missense 1:44412143-44412143 + 18 COSM3689721 c.410C>T p.T137M Substitution - Missense 1:44412507-44412507 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.456557 1p34.1 2411636|CGAP|BC034221|C/T|non-coding||2598|Confirmed; 2411636|CGAP|BC098266|C/T|non-coding||2396|Confirmed; 2411636|CGAP|BC098300|C/T|non-coding||2396|Confirmed; 2411638|CGAP|BC034221|C/T|non-coding||2548|Validated; 2411638|CGAP|BC098266|C/T|non-coding||2346|Validated; 2411638|CGAP|BC098300|C/T|non-coding||2346|Validated; 625085|dbSNP|BC034221|C/T|non-coding||1131|Candidate; 625085|dbSNP|BC098266|C/T|coding|Leu258Leu|929|Candidate; 625085|dbSNP|BC098300|C/T|coding|Leu258Leu|929|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AC 3-UTRInsertion . c.1698+138_1698+139insAC 1 45116582 STAD A C Missense p.K185T c.554A>C 1 44878323 STAD A G IntronicSNV . c.626-57466A>G 1 45022371 PIA A G Missense p.R563G c.1687A>G 1 45116433 STAD A T Missense p.D395V c.1184A>T 1 45110427 SCLC C A Missense p.H94N c.280C>A 1 44878049 RCCC C A Synonymous p.P101P c.303C>A 1 44878072 PRAD C G Missense p.H114D c.340C>G 1 44878109 BLCA C T IntronicSNV . c.625+14387C>T 1 44892781 CLL C T IntronicSNV . c.907-38C>T 1 45097977 CM C T Missense p.H296Y c.886C>T 1 45092050 CM C T Missense p.P108S c.322C>T 1 44878091 CM C T Missense p.P225S c.673C>T 1 45079884 CM C T Missense p.P23S c.67C>T 1 44877836 CM C T Missense p.R154C c.460C>T 1 44878229 STAD C T Missense p.R196W c.586C>T 1 44878355 HNSC C T Missense p.R86C c.256C>T 1 44878025 CM C T Nonsense p.Q472* c.1414C>T 1 45111129 UCEC C T Nonsense p.R46* c.136C>T 1 44877905 BRCA C T Synonymous p.C535C c.1605C>T 1 45115605 STAD C T Synonymous p.F88F c.264C>T 1 44878033 CM C T Synonymous p.S269S c.807C>T 1 45091971 CM C T Synonymous p.T126T c.378C>T 1 44878147 UCEC G A 5-UTRSNV . c.1-45G>A 1 44877725 CM G A IntronicSNV . c.1629+85G>A 1 45115714 CM G A IntronicSNV . c.625+71211G>A 1 44949605 CLL G A IntronicSNV . c.626-21742G>A 1 45058095 PIA G A Missense p.A139T c.415G>A 1 44878184 PRAD G A Missense p.D128N c.382G>A 1 44878151 HNSC G A Missense p.D340N c.1018G>A 1 45101726 CM G A Missense p.D393N c.1177G>A 1 45110420 HNSC G A Missense p.D413N c.1237G>A 1 45110680 LUSC G A Missense p.G65S c.193G>A 1 44877962 COREAD G A Missense p.M10I c.30G>A 1 44877799 CM G A Missense p.V179I c.535G>A 1 44878304 OV G A SpliceAcceptorSNV . c.1446-1G>A 1 45115332 BLCA G A SpliceDonorSNV . c.804+1G>A 1 45088460 LUAD G A Synonymous p.R325R c.975G>A 1 45101242 BLCA G A Synonymous p.R5R c.15G>A 1 44877784 UCEC G C Missense p.E386Q c.1156G>C 1 45110399 BRCA G C Missense p.G334A c.1001G>C 1 45101709 BRCA G C Missense p.R46P c.137G>C 1 44877906 UCEC G T Missense p.A198S c.592G>T 1 44878361 OV G T Missense p.D486Y c.1456G>T 1 45115343 ESCA G T Missense p.R196L c.587G>T 1 44878356 LUAD G T Missense p.R75L c.224G>T 1 44877993 SCLC G T Missense p.R86L c.257G>T 1 44878026 LUSC G T Missense p.V54F c.160G>T 1 44877929 SCLC G T Missense p.W358L c.1073G>T 1 45101781 LUSC T A Nonsense p.L153* c.458T>A 1 44878227 STAD T C Missense p.F304S c.911T>C 1 45098019 RCCC T C Synonymous p.G372G c.1116T>C 1 45101824 COREAD