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 6 47471034 47471034 + Missense_Mutation SNP A A G TCGA-XF-AAN7-01A-11D-A42E-08 TCGA-XF-AAN7-10A-01D-A42H-08 g.chr6:47471034A>G c.23A>G c.(22-24)tAt>tGt p.Y8C BLCA 6 47501381 47501381 + Missense_Mutation SNP T T C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr6:47501381T>C c.209T>C c.(208-210)aTc>aCc p.I70T BLCA 6 47512341 47512341 + Splice_Site SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr6:47512341G>A c.e4-1 BLCA 6 47512409 47512409 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr6:47512409G>A c.387G>A c.(385-387)ctG>ctA p.L129L BLCA 6 47512440 47512440 + Missense_Mutation SNP G G A TCGA-FD-A62O-01A-11D-A30E-08 TCGA-FD-A62O-10A-01D-A30H-08 g.chr6:47512440G>A c.418G>A c.(418-420)Gag>Aag p.E140K BLCA 6 47544302 47544302 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr6:47544302G>C c.772G>C c.(772-774)Gag>Cag p.E258Q BLCA 6 47544323 47544323 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr6:47544323G>A c.793G>A c.(793-795)Gaa>Aaa p.E265K BLCA 6 47544789 47544789 + Nonsense_Mutation SNP G G T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr6:47544789G>T c.853G>T c.(853-855)Gaa>Taa p.E285* BLCA 6 47563717 47563717 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr6:47563717C>G c.1229C>G c.(1228-1230)cCa>cGa p.P410R BLCA 6 47573948 47573948 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr6:47573948C>T c.1465C>T c.(1465-1467)Ctc>Ttc p.L489F BLCA 6 47576922 47576922 + Missense_Mutation SNP C C G TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr6:47576922C>G c.1696C>G c.(1696-1698)Cca>Gca p.P566A BLCA 6 47576971 47576971 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr6:47576971C>G c.1745C>G c.(1744-1746)tCc>tGc p.S582C BLCA 6 47577018 47577018 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr6:47577018G>C c.1792G>C c.(1792-1794)Gaa>Caa p.E598Q BLCA 6 47591933 47591933 + Silent SNP G G A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr6:47591933G>A c.1890G>A c.(1888-1890)gaG>gaA p.E630E BRCA 6 47471170 47471170 + Silent SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr6:47471170C>T c.159C>T c.(157-159)ttC>ttT p.F53F BRCA 6 47541929 47541929 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 g.chr6:47541929C>G c.671C>G c.(670-672)tCt>tGt p.S224C BRCA 6 47547214 47547215 + Frame_Shift_Del DEL AA AA - TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr6:47547214_47547215delAA c.997_998delAA c.(997-999)aaafs p.K333fs BRCA 6 47563748 47563748 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr6:47563748A>C c.1260A>C c.(1258-1260)ccA>ccC p.P420P BRCA 6 47580254 47580254 + Silent SNP A A G TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr6:47580254A>G c.1860A>G c.(1858-1860)acA>acG p.T620T CESC 6 47577036 47577036 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr6:47577036C>G c.1810C>G c.(1810-1812)Cac>Gac p.H604D COAD 6 47471073 47471073 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:47471073G>A c.62G>A c.(61-63)cGa>cAa p.R21Q COAD 6 47471073 47471073 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:47471073G>A c.62G>A c.(61-63)cGa>cAa p.R21Q COAD 6 47471132 47471132 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:47471132G>T c.121G>T c.(121-123)Gaa>Taa p.E41* COAD 6 47501423 47501423 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:47501423G>A c.251G>A c.(250-252)cGa>cAa p.R84Q COAD 6 47512442 47512442 + Splice_Site SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:47512442G>T c.420G>T c.(418-420)gaG>gaT p.E140D COAD 6 47544821 47544821 + Silent SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr6:47544821A>C c.885A>C c.(883-885)atA>atC p.I295I COAD 6 47547185 47547185 + Missense_Mutation SNP A A T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr6:47547185A>T c.968A>T c.(967-969)aAt>aTt p.N323I COAD 6 47549760 47549760 + Missense_Mutation SNP C C A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr6:47549760C>A c.1067C>A c.(1066-1068)gCt>gAt p.A356D COAD 6 47563641 47563641 + Missense_Mutation SNP C C G TCGA-AA-3860-01A-02W-0900-09 TCGA-AA-3860-10A-01W-0902-09 g.chr6:47563641C>G c.1153C>G c.(1153-1155)Cca>Gca p.P385A COAD 6 47563732 47563732 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr6:47563732A>G c.1244A>G c.(1243-1245)aAa>aGa p.K415R COAD 6 47567086 47567086 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr6:47567086G>A c.1324G>A c.(1324-1326)Gta>Ata p.V442I COAD 6 47576961 47576961 + Frame_Shift_Del DEL A A - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr6:47576961delA c.1735delA c.(1735-1737)aaafs p.K580fs COADREAD 6 47471073 47471073 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:47471073G>A c.62G>A c.(61-63)cGa>cAa p.R21Q COADREAD 6 47471073 47471073 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:47471073G>A c.62G>A c.(61-63)cGa>cAa p.R21Q COADREAD 6 47471132 47471132 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:47471132G>T c.121G>T c.(121-123)Gaa>Taa p.E41* COADREAD 6 47501423 47501423 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:47501423G>A c.251G>A c.(250-252)cGa>cAa p.R84Q COADREAD 6 47512442 47512442 + Splice_Site SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:47512442G>T c.420G>T c.(418-420)gaG>gaT p.E140D COADREAD 6 47522495 47522495 + Silent SNP C C T TCGA-AG-3583-01A-01W-0831-10 TCGA-AG-3583-10A-01W-0831-10 g.chr6:47522495C>T c.534C>T c.(532-534)gaC>gaT p.D178D COADREAD 6 47544821 47544821 + Silent SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr6:47544821A>C c.885A>C c.(883-885)atA>atC p.I295I COADREAD 6 47547185 47547185 + Missense_Mutation SNP A A T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr6:47547185A>T c.968A>T c.(967-969)aAt>aTt p.N323I COADREAD 6 47549760 47549760 + Missense_Mutation SNP C C A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr6:47549760C>A c.1067C>A c.(1066-1068)gCt>gAt p.A356D COADREAD 6 47563641 47563641 + Missense_Mutation SNP C C G TCGA-AA-3860-01A-02W-0900-09 TCGA-AA-3860-10A-01W-0902-09 g.chr6:47563641C>G c.1153C>G c.(1153-1155)Cca>Gca p.P385A COADREAD 6 47563732 47563732 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr6:47563732A>G c.1244A>G c.(1243-1245)aAa>aGa p.K415R COADREAD 6 47567086 47567086 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr6:47567086G>A c.1324G>A c.(1324-1326)Gta>Ata p.V442I COADREAD 6 47576961 47576961 + Frame_Shift_Del DEL A A - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr6:47576961delA c.1735delA c.(1735-1737)aaafs p.K580fs DLBC 6 47563608 47563608 + Missense_Mutation SNP A A G TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr6:47563608A>G c.1120A>G c.(1120-1122)Aca>Gca p.T374A GBM 6 47512403 47512403 + Silent SNP G G A TCGA-14-4157-01A-01D-1353-08 TCGA-14-4157-10A-01D-1353-08 g.chr6:47512403G>A c.381G>A c.(379-381)ctG>ctA p.L127L GBM 6 47547178 47547178 + Missense_Mutation SNP C C T TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 g.chr6:47547178C>T c.961C>T c.(961-963)Cca>Tca p.P321S GBMLGG 6 47471062 47471062 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:47471062A>G c.51A>G c.(49-51)gaA>gaG p.E17E GBMLGG 6 47512403 47512403 + Silent SNP G G A TCGA-14-4157-01A-01D-1353-08 TCGA-14-4157-10A-01D-1353-08 g.chr6:47512403G>A c.381G>A c.(379-381)ctG>ctA p.L127L GBMLGG 6 47547178 47547178 + Missense_Mutation SNP C C T TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 g.chr6:47547178C>T c.961C>T c.(961-963)Cca>Tca p.P321S GBMLGG 6 47575765 47575765 + Splice_Site SNP G G A TCGA-DU-A5TS-01A-11D-A289-08 TCGA-DU-A5TS-10A-01D-A289-08 g.chr6:47575765G>A c.e15+1 GBMLGG 6 47580272 47580272 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:47580272G>T c.1878G>T c.(1876-1878)gaG>gaT p.E626D HNSC 6 47471022 47471022 + Missense_Mutation SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 g.chr6:47471022A>G c.11A>G c.(10-12)tAt>tGt p.Y4C HNSC 6 47501441 47501441 + Missense_Mutation SNP T T G TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 g.chr6:47501441T>G c.269T>G c.(268-270)cTt>cGt p.L90R HNSC 6 47544293 47544295 + In_Frame_Del DEL CAG CAG - TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 g.chr6:47544293_47544295delCAG c.763_765delCAG c.(763-765)cagdel p.Q255del HNSC 6 47563619 47563619 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 g.chr6:47563619G>A c.1131G>A c.(1129-1131)caG>caA p.Q377Q HNSC 6 47563699 47563699 + Missense_Mutation SNP C C T TCGA-CQ-5325-01A-01D-1683-08 TCGA-CQ-5325-10A-01D-1683-08 g.chr6:47563699C>T c.1211C>T c.(1210-1212)tCt>tTt p.S404F KIPAN 6 47471115 47471115 + Missense_Mutation SNP A A T TCGA-Q2-A5QZ-01A-11D-A28G-10 TCGA-Q2-A5QZ-10A-01D-A28G-10 g.chr6:47471115A>T c.104A>T c.(103-105)gAa>gTa p.E35V KIPAN 6 47541956 47541956 + Missense_Mutation SNP G G C TCGA-AK-3425-01A-02D-1361-10 TCGA-AK-3425-10A-01D-1361-10 g.chr6:47541956G>C c.698G>C c.(697-699)aGt>aCt p.S233T KIPAN 6 47567071 47567071 + Missense_Mutation SNP T T A TCGA-CZ-5456-01A-01D-1501-10 TCGA-CZ-5456-11A-01D-1501-10 g.chr6:47567071T>A c.1309T>A c.(1309-1311)Ttt>Att p.F437I KIRC 6 47541956 47541956 + Missense_Mutation SNP G G C TCGA-AK-3425-01A-02D-1361-10 TCGA-AK-3425-10A-01D-1361-10 g.chr6:47541956G>C c.698G>C c.(697-699)aGt>aCt p.S233T KIRC 6 47567071 47567071 + Missense_Mutation SNP T T A TCGA-CZ-5456-01A-01D-1501-10 TCGA-CZ-5456-11A-01D-1501-10 g.chr6:47567071T>A c.1309T>A c.(1309-1311)Ttt>Att p.F437I KIRP 6 47471115 47471115 + Missense_Mutation SNP A A T TCGA-Q2-A5QZ-01A-11D-A28G-10 TCGA-Q2-A5QZ-10A-01D-A28G-10 g.chr6:47471115A>T c.104A>T c.(103-105)gAa>gTa p.E35V LGG 6 47471062 47471062 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:47471062A>G c.51A>G c.(49-51)gaA>gaG p.E17E LGG 6 47575765 47575765 + Splice_Site SNP G G A TCGA-DU-A5TS-01A-11D-A289-08 TCGA-DU-A5TS-10A-01D-A289-08 g.chr6:47575765G>A c.e15+1 LGG 6 47580272 47580272 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:47580272G>T c.1878G>T c.(1876-1878)gaG>gaT p.E626D LIHC 6 47548615 47548615 + Missense_Mutation SNP C C A TCGA-DD-AADM-01A-11D-A40R-10 TCGA-DD-AADM-10A-01D-A40U-10 g.chr6:47548615C>A c.1024C>A c.(1024-1026)Cca>Aca p.P342T LUAD 6 47471032 47471032 + Silent SNP G G A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr6:47471032G>A c.21G>A c.(19-21)gaG>gaA p.E7E LUAD 6 47541908 47541908 + Missense_Mutation SNP G G C TCGA-86-8672-01A-21D-2393-08 TCGA-86-8672-10A-01D-2393-08 g.chr6:47541908G>C c.650G>C c.(649-651)gGa>gCa p.G217A LUAD 6 47544814 47544814 + Missense_Mutation SNP G G C TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr6:47544814G>C c.878G>C c.(877-879)gGg>gCg p.G293A LUAD 6 47549737 47549737 + Splice_Site SNP A A T TCGA-97-A4M7-01A-11D-A24P-08 TCGA-97-A4M7-10A-01D-A24P-08 g.chr6:47549737A>T c.e11-1 LUAD 6 47549760 47549760 + Missense_Mutation SNP C C T TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr6:47549760C>T c.1067C>T c.(1066-1068)gCt>gTt p.A356V LUAD 6 47567080 47567080 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr6:47567080G>A c.1318G>A c.(1318-1320)Gag>Aag p.E440K OV 6 47573993 47573993 + Missense_Mutation SNP C C T TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 g.chr6:47573993C>T c.1510C>T c.(1510-1512)Cgt>Tgt p.R504C PAAD 6 47471177 47471177 + Splice_Site SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:47471177G>A c.e2+1 PAAD 6 47576961 47576961 + Frame_Shift_Del DEL A A - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 g.chr6:47576961delA c.1735delA c.(1735-1737)aaafs p.K580fs PRAD 6 47512358 47512358 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:47512358G>T c.336G>T c.(334-336)caG>caT p.Q112H PRAD 6 47563637 47563637 + Silent SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:47563637A>G c.1149A>G c.(1147-1149)gcA>gcG p.A383A READ 6 47522495 47522495 + Silent SNP C C T TCGA-AG-3583-01A-01W-0831-10 TCGA-AG-3583-10A-01W-0831-10 g.chr6:47522495C>T c.534C>T c.(532-534)gaC>gaT p.D178D SARC 6 47573998 47573998 + Silent SNP C C T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 g.chr6:47573998C>T c.1515C>T c.(1513-1515)ttC>ttT p.F505F SKCM 6 47501378 47501378 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 g.chr6:47501378C>T c.206C>T c.(205-207)cCc>cTc p.P69L SKCM 6 47501479 47501479 + Missense_Mutation SNP A A T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr6:47501479A>T c.307A>T c.(307-309)Aac>Tac p.N103Y SKCM 6 47541892 47541892 + Nonsense_Mutation SNP C C T TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr6:47541892C>T c.634C>T c.(634-636)Cga>Tga p.R212* SKCM 6 47541941 47541941 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr6:47541941G>A c.683G>A c.(682-684)cGg>cAg p.R228Q SKCM 6 47541942 47541942 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr6:47541942G>A c.684G>A c.(682-684)cgG>cgA p.R228R SKCM 6 47544323 47544323 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr6:47544323G>A c.793G>A c.(793-795)Gaa>Aaa p.E265K SKCM 6 47547126 47547126 + Silent SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr6:47547126T>C c.909T>C c.(907-909)acT>acC p.T303T SKCM 6 47547151 47547151 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr6:47547151G>A c.934G>A c.(934-936)Gaa>Aaa p.E312K SKCM 6 47575686 47575686 + Silent SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr6:47575686C>T c.1554C>T c.(1552-1554)atC>atT p.I518I SKCM 6 47576922 47576922 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 g.chr6:47576922C>T c.1696C>T c.(1696-1698)Cca>Tca p.P566S SKCM 6 47576933 47576933 + Silent SNP C C T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 g.chr6:47576933C>T c.1707C>T c.(1705-1707)atC>atT p.I569I SKCM 6 47576971 47576971 + Missense_Mutation SNP C C T TCGA-D3-A2JP-06A-11D-A19A-08 TCGA-D3-A2JP-10A-01D-A19A-08 g.chr6:47576971C>T c.1745C>T c.(1744-1746)tCc>tTc p.S582F SKCM 6 47576971 47576971 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr6:47576971C>T c.1745C>T c.(1744-1746)tCc>tTc p.S582F SKCM 6 47576991 47576991 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr6:47576991C>T c.1765C>T c.(1765-1767)Cag>Tag p.Q589*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 6 47512341 47512341 single base substitution G A splice_acceptor_variant BLCA-US 6 47544302 47544302 single base substitution G C exon_variant BLCA-US 6 47544302 47544302 single base substitution G C missense_variant E258Q 772G>C BLCA-US 6 47544302 47544302 single base substitution G C upstream_gene_variant BLCA-US 6 47544789 47544789 single base substitution G T exon_variant BLCA-US 6 47544789 47544789 single base substitution G T stop_gained E285* 853G>T BLCA-US 6 47544789 47544789 single base substitution G T upstream_gene_variant BLCA-US 6 47563717 47563717 single base substitution C G missense_variant P410R 1229C>G BLCA-US 6 47576971 47576971 single base substitution C G exon_variant BLCA-US 6 47576971 47576971 single base substitution C G missense_variant S582C 1745C>G BLCA-US 6 47577018 47577018 single base substitution G C exon_variant BLCA-US 6 47577018 47577018 single base substitution G C missense_variant E598Q 1792G>C BOCA-FR 6 47496267 47496267 single base substitution A G intron_variant BOCA-FR 6 47593113 47593113 single base substitution A T 3_prime_UTR_variant BRCA-EU 6 47440681 47440681 insertion of <=200bp - A upstream_gene_variant BRCA-EU 6 47441413 47441413 single base substitution C A upstream_gene_variant BRCA-EU 6 47442411 47442411 single base substitution G C upstream_gene_variant BRCA-EU 6 47443035 47443035 single base substitution T A upstream_gene_variant BRCA-EU 6 47443077 47443077 single base substitution G A upstream_gene_variant BRCA-EU 6 47444329 47444329 deletion of <=200bp T - upstream_gene_variant BRCA-EU 6 47444630 47444630 single base substitution G A upstream_gene_variant BRCA-EU 6 47444688 47444688 single base substitution C T upstream_gene_variant BRCA-EU 6 47444750 47444750 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 47447628 47447628 deletion of <=200bp T - intron_variant BRCA-EU 6 47448075 47448075 single base substitution T A intron_variant BRCA-EU 6 47448255 47448255 single base substitution G A intron_variant BRCA-EU 6 47448656 47448656 single base substitution A G intron_variant BRCA-EU 6 47449751 47449751 single base substitution C G intron_variant BRCA-EU 6 47449756 47449756 single base substitution C G intron_variant BRCA-EU 6 47450945 47450945 single base substitution C T intron_variant BRCA-EU 6 47451635 47451635 single base substitution G A intron_variant BRCA-EU 6 47456563 47456563 single base substitution G A intron_variant BRCA-EU 6 47456876 47456876 single base substitution G C intron_variant BRCA-EU 6 47457011 47457011 single base substitution C T intron_variant BRCA-EU 6 47458166 47458166 single base substitution C G intron_variant BRCA-EU 6 47458277 47458277 single base substitution T G intron_variant BRCA-EU 6 47459186 47459186 single base substitution C G intron_variant BRCA-EU 6 47459393 47459393 deletion of <=200bp T - intron_variant BRCA-EU 6 47459655 47459661 deletion of <=200bp TAAGGAT - intron_variant BRCA-EU 6 47460997 47460997 single base substitution G C intron_variant BRCA-EU 6 47461320 47461320 single base substitution G A intron_variant BRCA-EU 6 47462286 47462286 single base substitution G C intron_variant BRCA-EU 6 47463024 47463024 single base substitution A T intron_variant BRCA-EU 6 47463516 47463516 single base substitution G T intron_variant BRCA-EU 6 47464543 47464543 single base substitution T A intron_variant BRCA-EU 6 47464692 47464692 single base substitution A T intron_variant BRCA-EU 6 47464752 47464752 single base substitution C G intron_variant BRCA-EU 6 47464760 47464760 single base substitution T C intron_variant BRCA-EU 6 47465214 47465214 single base substitution C T intron_variant BRCA-EU 6 47466209 47466209 single base substitution T A intron_variant BRCA-EU 6 47466823 47466823 insertion of <=200bp - T intron_variant BRCA-EU 6 47469222 47469222 single base substitution C G intron_variant BRCA-EU 6 47470997 47470997 deletion of <=200bp T - intron_variant BRCA-EU 6 47473142 47473142 single base substitution G C intron_variant BRCA-EU 6 47473370 47473370 single base substitution C T intron_variant BRCA-EU 6 47473549 47473549 single base substitution C T intron_variant BRCA-EU 6 47475059 47475059 single base substitution G T intron_variant BRCA-EU 6 47475956 47475956 single base substitution T C intron_variant BRCA-EU 6 47477113 47477113 single base substitution C A intron_variant BRCA-EU 6 47477883 47477883 single base substitution G T intron_variant BRCA-EU 6 47479098 47479098 single base substitution G A intron_variant BRCA-EU 6 47479997 47479997 single base substitution G A intron_variant BRCA-EU 6 47480476 47480476 single base substitution A T intron_variant BRCA-EU 6 47481279 47481279 deletion of <=200bp T - intron_variant BRCA-EU 6 47482796 47482796 single base substitution A G intron_variant BRCA-EU 6 47482889 47482889 single base substitution A G intron_variant BRCA-EU 6 47485140 47485140 single base substitution C G intron_variant BRCA-EU 6 47488785 47488785 single base substitution A G intron_variant BRCA-EU 6 47488797 47488797 single base substitution T A intron_variant BRCA-EU 6 47489131 47489131 single base substitution T C intron_variant BRCA-EU 6 47489511 47489511 single base substitution G A intron_variant BRCA-EU 6 47490603 47490603 single base substitution T C intron_variant BRCA-EU 6 47491710 47491710 single base substitution G C intron_variant BRCA-EU 6 47491833 47491833 single base substitution T A intron_variant BRCA-EU 6 47492111 47492111 single base substitution C T intron_variant BRCA-EU 6 47494100 47494100 single base substitution G T intron_variant BRCA-EU 6 47494270 47494270 single base substitution G T intron_variant BRCA-EU 6 47495838 47495838 single base substitution T C intron_variant BRCA-EU 6 47495891 47495891 single base substitution C G intron_variant BRCA-EU 6 47495908 47495908 single base substitution T G intron_variant BRCA-EU 6 47496641 47496641 single base substitution G A intron_variant BRCA-EU 6 47496641 47496641 single base substitution G A upstream_gene_variant BRCA-EU 6 47497515 47497515 single base substitution A C intron_variant BRCA-EU 6 47497515 47497515 single base substitution A C upstream_gene_variant BRCA-EU 6 47497533 47497533 single base substitution G T intron_variant BRCA-EU 6 47497533 47497533 single base substitution G T upstream_gene_variant BRCA-EU 6 47497939 47497939 single base substitution C T intron_variant BRCA-EU 6 47497939 47497939 single base substitution C T upstream_gene_variant BRCA-EU 6 47498852 47498852 single base substitution T G intron_variant BRCA-EU 6 47498852 47498852 single base substitution T G upstream_gene_variant BRCA-EU 6 47499319 47499319 single base substitution C T intron_variant BRCA-EU 6 47499319 47499319 single base substitution C T upstream_gene_variant BRCA-EU 6 47499411 47499411 single base substitution A T intron_variant BRCA-EU 6 47499411 47499411 single base substitution A T upstream_gene_variant BRCA-EU 6 47500810 47500810 single base substitution A G intron_variant BRCA-EU 6 47500810 47500810 single base substitution A G upstream_gene_variant BRCA-EU 6 47501102 47501102 single base substitution G C intron_variant BRCA-EU 6 47501102 47501102 single base substitution G C upstream_gene_variant BRCA-EU 6 47501181 47501181 single base substitution A T intron_variant BRCA-EU 6 47501181 47501181 single base substitution A T upstream_gene_variant BRCA-EU 6 47503298 47503298 single base substitution C G intron_variant BRCA-EU 6 47503975 47503975 single base substitution T G intron_variant BRCA-EU 6 47504873 47504873 single base substitution G A intron_variant BRCA-EU 6 47505338 47505338 single base substitution G T intron_variant BRCA-EU 6 47505522 47505522 single base substitution A G intron_variant BRCA-EU 6 47506697 47506697 single base substitution T G intron_variant BRCA-EU 6 47507172 47507172 single base substitution A C intron_variant BRCA-EU 6 47507958 47507958 deletion of <=200bp T - intron_variant BRCA-EU 6 47509371 47509371 single base substitution G C intron_variant BRCA-EU 6 47510394 47510394 single base substitution C T intron_variant BRCA-EU 6 47510540 47510540 single base substitution G T intron_variant BRCA-EU 6 47511033 47511033 single base substitution T G intron_variant BRCA-EU 6 47512234 47512234 single base substitution T C intron_variant BRCA-EU 6 47512554 47512554 insertion of <=200bp - A exon_variant BRCA-EU 6 47512554 47512554 insertion of <=200bp - A intron_variant BRCA-EU 6 47514190 47514190 single base substitution A G downstream_gene_variant BRCA-EU 6 47514190 47514190 single base substitution A G intron_variant BRCA-EU 6 47514198 47514198 single base substitution T C downstream_gene_variant BRCA-EU 6 47514198 47514198 single base substitution T C intron_variant BRCA-EU 6 47514200 47514200 single base substitution C G downstream_gene_variant BRCA-EU 6 47514200 47514200 single base substitution C G intron_variant BRCA-EU 6 47514339 47514339 single base substitution T A downstream_gene_variant BRCA-EU 6 47514339 47514339 single base substitution T A intron_variant BRCA-EU 6 47514341 47514341 single base substitution T A downstream_gene_variant BRCA-EU 6 47514341 47514341 single base substitution T A intron_variant BRCA-EU 6 47514369 47514414 multiple base substitution (>=2bp and <=200bp) CGGCCTTGCCAGAGACCTAGACATCCAAATATAGGAAGTTCAAAGG CAGCCTTGCTACAGACCTAGACATCCAAATATAAGAAGTTTAAGA downstream_gene_variant BRCA-EU 6 47514369 47514414 multiple base substitution (>=2bp and <=200bp) CGGCCTTGCCAGAGACCTAGACATCCAAATATAGGAAGTTCAAAGG CAGCCTTGCTACAGACCTAGACATCCAAATATAAGAAGTTTAAGA intron_variant BRCA-EU 6 47514928 47514928 single base substitution C G downstream_gene_variant BRCA-EU 6 47514928 47514928 single base substitution C G intron_variant BRCA-EU 6 47515215 47515215 single base substitution C T downstream_gene_variant BRCA-EU 6 47515215 47515215 single base substitution C T intron_variant BRCA-EU 6 47515735 47515735 single base substitution C G downstream_gene_variant BRCA-EU 6 47515735 47515735 single base substitution C G intron_variant BRCA-EU 6 47515898 47515898 single base substitution A G downstream_gene_variant BRCA-EU 6 47515898 47515898 single base substitution A G intron_variant BRCA-EU 6 47516511 47516511 single base substitution C G downstream_gene_variant BRCA-EU 6 47516511 47516511 single base substitution C G intron_variant BRCA-EU 6 47518493 47518493 single base substitution A G intron_variant BRCA-EU 6 47518672 47518672 single base substitution A T intron_variant BRCA-EU 6 47520822 47520822 single base substitution C G intron_variant BRCA-EU 6 47521149 47521149 single base substitution C T intron_variant BRCA-EU 6 47521151 47521151 single base substitution C T intron_variant BRCA-EU 6 47521960 47521960 single base substitution C G intron_variant BRCA-EU 6 47526160 47526160 single base substitution A G intron_variant BRCA-EU 6 47526173 47526173 single base substitution C T intron_variant BRCA-EU 6 47526430 47526430 single base substitution C A intron_variant BRCA-EU 6 47526620 47526620 single base substitution T G intron_variant BRCA-EU 6 47527586 47527586 single base substitution A C intron_variant BRCA-EU 6 47529245 47529245 single base substitution T G intron_variant BRCA-EU 6 47534668 47534668 single base substitution T C intron_variant BRCA-EU 6 47535819 47535819 insertion of <=200bp - T intron_variant BRCA-EU 6 47536453 47536453 single base substitution C T intron_variant BRCA-EU 6 47538817 47538817 single base substitution G T intron_variant BRCA-EU 6 47538829 47538829 single base substitution A G intron_variant BRCA-EU 6 47539099 47539099 single base substitution A T intron_variant BRCA-EU 6 47540332 47540332 single base substitution C G intron_variant BRCA-EU 6 47540332 47540332 single base substitution C G upstream_gene_variant BRCA-EU 6 47540399 47540399 single base substitution G C intron_variant BRCA-EU 6 47540399 47540399 single base substitution G C upstream_gene_variant BRCA-EU 6 47541483 47541483 single base substitution C A intron_variant BRCA-EU 6 47541483 47541483 single base substitution C A upstream_gene_variant BRCA-EU 6 47541838 47541838 single base substitution C G missense_variant L194V 580C>G BRCA-EU 6 47541838 47541838 single base substitution C G upstream_gene_variant BRCA-EU 6 47543467 47543467 single base substitution C T intron_variant BRCA-EU 6 47543467 47543467 single base substitution C T upstream_gene_variant BRCA-EU 6 47544387 47544387 single base substitution C G intron_variant BRCA-EU 6 47544387 47544387 single base substitution C G upstream_gene_variant BRCA-EU 6 47544895 47544895 single base substitution C G intron_variant BRCA-EU 6 47544895 47544895 single base substitution C G upstream_gene_variant BRCA-EU 6 47544920 47544920 single base substitution T C intron_variant BRCA-EU 6 47544920 47544920 single base substitution T C upstream_gene_variant BRCA-EU 6 47545115 47545115 single base substitution A T intron_variant BRCA-EU 6 47545115 47545115 single base substitution A T upstream_gene_variant BRCA-EU 6 47546505 47546505 single base substitution G T intron_variant BRCA-EU 6 47546505 47546505 single base substitution G T upstream_gene_variant BRCA-EU 6 47546665 47546665 single base substitution T C intron_variant BRCA-EU 6 47546665 47546665 single base substitution T C upstream_gene_variant BRCA-EU 6 47548244 47548244 single base substitution C G downstream_gene_variant BRCA-EU 6 47548244 47548244 single base substitution C G intron_variant BRCA-EU 6 47550153 47550155 deletion of <=200bp AAT - downstream_gene_variant BRCA-EU 6 47550153 47550155 deletion of <=200bp AAT - intron_variant BRCA-EU 6 47550321 47550321 single base substitution C T downstream_gene_variant BRCA-EU 6 47550321 47550321 single base substitution C T intron_variant BRCA-EU 6 47551919 47551919 single base substitution C G downstream_gene_variant BRCA-EU 6 47551919 47551919 single base substitution C G intron_variant BRCA-EU 6 47552206 47552206 single base substitution T C downstream_gene_variant BRCA-EU 6 47552206 47552206 single base substitution T C intron_variant BRCA-EU 6 47552365 47552365 single base substitution T A downstream_gene_variant BRCA-EU 6 47552365 47552365 single base substitution T A intron_variant BRCA-EU 6 47552881 47552881 single base substitution A T downstream_gene_variant BRCA-EU 6 47552881 47552881 single base substitution A T intron_variant BRCA-EU 6 47554770 47554770 single base substitution G T downstream_gene_variant BRCA-EU 6 47554770 47554770 single base substitution G T intron_variant BRCA-EU 6 47554782 47554782 single base substitution C G downstream_gene_variant BRCA-EU 6 47554782 47554782 single base substitution C G intron_variant BRCA-EU 6 47555448 47555448 single base substitution G A intron_variant BRCA-EU 6 47555820 47555820 deletion of <=200bp T - intron_variant BRCA-EU 6 47556367 47556367 single base substitution A C intron_variant BRCA-EU 6 47557110 47557110 single base substitution G A intron_variant BRCA-EU 6 47559765 47559765 single base substitution T C intron_variant BRCA-EU 6 47562014 47562014 single base substitution C A intron_variant BRCA-EU 6 47562037 47562037 single base substitution C A intron_variant BRCA-EU 6 47562166 47562166 deletion of <=200bp T - intron_variant BRCA-EU 6 47562370 47562370 single base substitution C T intron_variant BRCA-EU 6 47562435 47562435 single base substitution C G intron_variant BRCA-EU 6 47563202 47563202 single base substitution T C intron_variant BRCA-EU 6 47563231 47563231 single base substitution C T intron_variant BRCA-EU 6 47563243 47563243 single base substitution C G intron_variant BRCA-EU 6 47563768 47563768 single base substitution T C splice_region_variant BRCA-EU 6 47564431 47564431 single base substitution G A intron_variant BRCA-EU 6 47564979 47564979 single base substitution A G intron_variant BRCA-EU 6 47565508 47565508 single base substitution A G intron_variant BRCA-EU 6 47565634 47565669 deletion of <=200bp CAGTGGGCCCCACCCACCCAGGACAGTGAAGGGACC - intron_variant BRCA-EU 6 47565657 47565657 single base substitution C T intron_variant BRCA-EU 6 47567017 47567017 single base substitution G A intron_variant BRCA-EU 6 47567345 47567345 single base substitution G C intron_variant BRCA-EU 6 47569240 47569240 single base substitution G A intron_variant BRCA-EU 6 47572424 47572424 single base substitution T G intron_variant BRCA-EU 6 47572424 47572424 single base substitution T G upstream_gene_variant BRCA-EU 6 47572634 47572634 single base substitution G C intron_variant BRCA-EU 6 47572634 47572634 single base substitution G C upstream_gene_variant BRCA-EU 6 47573548 47573548 single base substitution G C intron_variant BRCA-EU 6 47573548 47573548 single base substitution G C upstream_gene_variant BRCA-EU 6 47573992 47573992 single base substitution C A synonymous_variant G503G 1509C>A BRCA-EU 6 47573992 47573992 single base substitution C A upstream_gene_variant BRCA-EU 6 47578111 47578111 single base substitution T G downstream_gene_variant BRCA-EU 6 47578111 47578111 single base substitution T G intron_variant BRCA-EU 6 47578916 47578916 single base substitution C G downstream_gene_variant BRCA-EU 6 47578916 47578916 single base substitution C G intron_variant BRCA-EU 6 47579787 47579787 single base substitution G C downstream_gene_variant BRCA-EU 6 47579787 47579787 single base substitution G C intron_variant BRCA-EU 6 47580458 47580458 single base substitution G A downstream_gene_variant BRCA-EU 6 47580458 47580458 single base substitution G A intron_variant BRCA-EU 6 47580662 47580662 single base substitution C G downstream_gene_variant BRCA-EU 6 47580662 47580662 single base substitution C G intron_variant BRCA-EU 6 47581429 47581429 single base substitution T G downstream_gene_variant BRCA-EU 6 47581429 47581429 single base substitution T G intron_variant BRCA-EU 6 47582136 47582136 single base substitution G A downstream_gene_variant BRCA-EU 6 47582136 47582136 single base substitution G A intron_variant BRCA-EU 6 47582200 47582200 single base substitution C G downstream_gene_variant BRCA-EU 6 47582200 47582200 single base substitution C G intron_variant BRCA-EU 6 47584361 47584361 single base substitution C T intron_variant BRCA-EU 6 47584753 47584753 single base substitution G C intron_variant BRCA-EU 6 47585025 47585025 single base substitution A C intron_variant BRCA-EU 6 47586037 47586037 single base substitution C G intron_variant BRCA-EU 6 47586054 47586054 insertion of <=200bp - A intron_variant BRCA-EU 6 47586063 47586063 single base substitution C T intron_variant BRCA-EU 6 47586201 47586201 deletion of <=200bp T - intron_variant BRCA-EU 6 47586367 47586367 single base substitution C G intron_variant BRCA-EU 6 47587422 47587422 single base substitution G A intron_variant BRCA-EU 6 47590348 47590348 single base substitution C T intron_variant BRCA-EU 6 47591213 47591213 single base substitution C T intron_variant BRCA-EU 6 47591375 47591375 single base substitution C G intron_variant BRCA-EU 6 47591536 47591536 single base substitution C G intron_variant BRCA-EU 6 47591867 47591867 single base substitution A C intron_variant BRCA-EU 6 47591877 47591877 single base substitution A G intron_variant BRCA-EU 6 47592919 47592919 single base substitution C A 3_prime_UTR_variant BRCA-EU 6 47593020 47593020 single base substitution C G 3_prime_UTR_variant BRCA-EU 6 47596185 47596185 single base substitution C G downstream_gene_variant BRCA-EU 6 47597498 47597498 single base substitution T G downstream_gene_variant BRCA-EU 6 47598396 47598396 single base substitution C T downstream_gene_variant BRCA-EU 6 47598659 47598659 single base substitution C T downstream_gene_variant BRCA-EU 6 47599030 47599030 single base substitution A T downstream_gene_variant BRCA-FR 6 47441413 47441413 single base substitution C A upstream_gene_variant BRCA-FR 6 47450945 47450945 single base substitution C T intron_variant BRCA-FR 6 47463516 47463516 single base substitution G T intron_variant BRCA-FR 6 47469222 47469222 single base substitution C G intron_variant BRCA-FR 6 47472305 47472305 single base substitution A G intron_variant BRCA-FR 6 47473018 47473018 single base substitution C T intron_variant BRCA-FR 6 47473142 47473142 single base substitution G C intron_variant BRCA-FR 6 47488797 47488797 single base substitution T A intron_variant BRCA-FR 6 47503975 47503975 single base substitution T G intron_variant BRCA-FR 6 47506697 47506697 single base substitution T G intron_variant BRCA-FR 6 47510996 47510996 single base substitution C T intron_variant BRCA-FR 6 47515124 47515124 single base substitution C T downstream_gene_variant BRCA-FR 6 47515124 47515124 single base substitution C T intron_variant BRCA-FR 6 47521220 47521220 single base substitution C G intron_variant BRCA-FR 6 47526173 47526173 single base substitution C T intron_variant BRCA-FR 6 47543467 47543467 single base substitution C T intron_variant BRCA-FR 6 47543467 47543467 single base substitution C T upstream_gene_variant BRCA-FR 6 47548244 47548244 single base substitution C G downstream_gene_variant BRCA-FR 6 47548244 47548244 single base substitution C G intron_variant BRCA-FR 6 47555448 47555448 single base substitution G A intron_variant BRCA-FR 6 47561835 47561835 single base substitution G A intron_variant BRCA-FR 6 47574354 47574354 single base substitution A T intron_variant BRCA-FR 6 47574354 47574354 single base substitution A T upstream_gene_variant BRCA-FR 6 47582200 47582200 single base substitution C G downstream_gene_variant BRCA-FR 6 47582200 47582200 single base substitution C G intron_variant BRCA-FR 6 47582551 47582551 single base substitution T A intron_variant BRCA-FR 6 47584753 47584753 single base substitution G C intron_variant BRCA-FR 6 47586367 47586367 single base substitution C G intron_variant BRCA-FR 6 47594008 47594008 single base substitution T A 3_prime_UTR_variant BRCA-FR 6 47594545 47594545 single base substitution G A 3_prime_UTR_variant BRCA-FR 6 47598659 47598659 single base substitution C T downstream_gene_variant BRCA-UK 6 47444779 47444779 single base substitution C G upstream_gene_variant BRCA-UK 6 47458277 47458277 single base substitution T G intron_variant BRCA-UK 6 47469478 47469478 single base substitution C T intron_variant BRCA-UK 6 47470611 47470611 single base substitution C T intron_variant BRCA-UK 6 47497939 47497939 single base substitution C T intron_variant BRCA-UK 6 47497939 47497939 single base substitution C T upstream_gene_variant BRCA-UK 6 47534668 47534668 single base substitution T C intron_variant BRCA-UK 6 47544943 47544943 single base substitution C T intron_variant BRCA-UK 6 47544943 47544943 single base substitution C T upstream_gene_variant BRCA-UK 6 47572112 47572112 single base substitution C T intron_variant BRCA-UK 6 47572112 47572112 single base substitution C T upstream_gene_variant BRCA-UK 6 47572424 47572424 single base substitution T G intron_variant BRCA-UK 6 47572424 47572424 single base substitution T G upstream_gene_variant BRCA-US 6 47471170 47471170 single base substitution C T synonymous_variant F53F 159C>T BRCA-US 6 47541929 47541929 single base substitution C G missense_variant S224C 671C>G BRCA-US 6 47541929 47541929 single base substitution C G upstream_gene_variant BRCA-US 6 47547214 47547215 deletion of <=200bp AA - exon_variant BRCA-US 6 47547214 47547215 deletion of <=200bp AA - frameshift_variant K333 BRCA-US 6 47549883 47549883 single base substitution T C downstream_gene_variant BRCA-US 6 47549883 47549883 single base substitution T C exon_variant BRCA-US 6 47549883 47549883 single base substitution T C intron_variant BRCA-US 6 47563748 47563748 single base substitution A C synonymous_variant P420P 1260A>C BRCA-US 6 47580254 47580254 single base substitution A G downstream_gene_variant BRCA-US 6 47580254 47580254 single base substitution A G synonymous_variant T620T 1860A>G BTCA-JP 6 47471103 47471103 single base substitution A C missense_variant K31T 92A>C BTCA-JP 6 47549707 47549707 single base substitution T G downstream_gene_variant BTCA-JP 6 47549707 47549707 single base substitution T G intron_variant BTCA-JP 6 47563560 47563560 single base substitution T C intron_variant BTCA-JP 6 47563630 47563630 single base substitution A C missense_variant K381T 1142A>C BTCA-JP 6 47575892 47575892 deletion of <=200bp A - intron_variant BTCA-JP 6 47576806 47576806 single base substitution G A intron_variant BTCA-JP 6 47577039 47577039 single base substitution G A exon_variant BTCA-JP 6 47577039 47577039 single base substitution G A missense_variant G605R 1813G>A CESC-US 6 47577036 47577036 single base substitution C G exon_variant CESC-US 6 47577036 47577036 single base substitution C G missense_variant H604D 1810C>G CLLE-ES 6 47457765 47457765 single base substitution A G intron_variant CLLE-ES 6 47480170 47480170 single base substitution C T intron_variant CLLE-ES 6 47492562 47492562 single base substitution G A intron_variant CLLE-ES 6 47498261 47498263 deletion of <=200bp CTT - intron_variant CLLE-ES 6 47498261 47498263 deletion of <=200bp CTT - upstream_gene_variant CLLE-ES 6 47521503 47521503 single base substitution A G intron_variant CLLE-ES 6 47523954 47523954 single base substitution A C intron_variant CLLE-ES 6 47525091 47525091 single base substitution T G intron_variant CLLE-ES 6 47533955 47533955 single base substitution C T intron_variant CLLE-ES 6 47562490 47562490 single base substitution A T intron_variant CLLE-ES 6 47592475 47592475 single base substitution T A 3_prime_UTR_variant COAD-US 6 47471073 47471073 single base substitution G A missense_variant R21Q 62G>A COAD-US 6 47471132 47471132 single base substitution G T stop_gained E41* 121G>T COAD-US 6 47563732 47563732 single base substitution A G missense_variant K415R 1244A>G COAD-US 6 47576960 47576960 insertion of <=200bp - A exon_variant COAD-US 6 47576960 47576960 insertion of <=200bp - A frameshift_variant V578V? COCA-CN 6 47441401 47441401 single base substitution C G upstream_gene_variant COCA-CN 6 47446338 47446338 single base substitution C T intron_variant COCA-CN 6 47449670 47449670 single base substitution A G intron_variant COCA-CN 6 47459015 47459015 single base substitution G A intron_variant COCA-CN 6 47469555 47469555 single base substitution A T intron_variant COCA-CN 6 47472778 47472778 single base substitution A T intron_variant COCA-CN 6 47480014 47480014 single base substitution G C intron_variant COCA-CN 6 47493446 47493446 single base substitution A G intron_variant COCA-CN 6 47510921 47510921 single base substitution A G intron_variant COCA-CN 6 47512229 47512229 single base substitution C T intron_variant COCA-CN 6 47517854 47517854 single base substitution C T downstream_gene_variant COCA-CN 6 47517854 47517854 single base substitution C T intron_variant COCA-CN 6 47520646 47520646 single base substitution T C intron_variant COCA-CN 6 47522492 47522492 single base substitution G A synonymous_variant Q177Q 531G>A COCA-CN 6 47534180 47534180 single base substitution T C intron_variant COCA-CN 6 47540837 47540837 single base substitution A T intron_variant COCA-CN 6 47540837 47540837 single base substitution A T upstream_gene_variant COCA-CN 6 47540838 47540838 single base substitution T G intron_variant COCA-CN 6 47540838 47540838 single base substitution T G upstream_gene_variant COCA-CN 6 47541381 47541381 single base substitution T C intron_variant COCA-CN 6 47541381 47541381 single base substitution T C upstream_gene_variant COCA-CN 6 47544250 47544250 single base substitution T G exon_variant COCA-CN 6 47544250 47544250 single base substitution T G intron_variant COCA-CN 6 47544250 47544250 single base substitution T G upstream_gene_variant COCA-CN 6 47567759 47567759 single base substitution C T intron_variant COCA-CN 6 47574870 47574870 single base substitution T A intron_variant COCA-CN 6 47574870 47574870 single base substitution T A upstream_gene_variant COCA-CN 6 47577064 47577064 single base substitution G A exon_variant COCA-CN 6 47577064 47577064 single base substitution G A intron_variant COCA-CN 6 47577091 47577091 single base substitution G T exon_variant COCA-CN 6 47577091 47577091 single base substitution G T intron_variant COCA-CN 6 47577268 47577268 single base substitution G A downstream_gene_variant COCA-CN 6 47577268 47577268 single base substitution G A intron_variant COCA-CN 6 47583743 47583743 single base substitution A G intron_variant EOPC-DE 6 47451462 47451462 single base substitution A C intron_variant EOPC-DE 6 47456065 47456065 single base substitution G A intron_variant EOPC-DE 6 47464500 47464500 single base substitution T G intron_variant EOPC-DE 6 47532609 47532609 single base substitution G T intron_variant EOPC-DE 6 47536311 47536311 single base substitution A G intron_variant EOPC-DE 6 47563204 47563204 single base substitution C T intron_variant EOPC-DE 6 47572374 47572374 single base substitution C T intron_variant EOPC-DE 6 47572374 47572374 single base substitution C T upstream_gene_variant EOPC-DE 6 47574866 47574866 single base substitution A G intron_variant EOPC-DE 6 47574866 47574866 single base substitution A G upstream_gene_variant ESAD-UK 6 47440671 47440671 single base substitution T C upstream_gene_variant ESAD-UK 6 47441148 47441148 single base substitution C T upstream_gene_variant ESAD-UK 6 47442758 47442758 single base substitution T C upstream_gene_variant ESAD-UK 6 47442929 47442929 single base substitution C G upstream_gene_variant ESAD-UK 6 47443863 47443863 single base substitution C T upstream_gene_variant ESAD-UK 6 47444213 47444213 single base substitution G T upstream_gene_variant ESAD-UK 6 47444834 47444834 single base substitution C A upstream_gene_variant ESAD-UK 6 47444875 47444877 deletion of <=200bp ATG - upstream_gene_variant ESAD-UK 6 47445327 47445327 single base substitution T G upstream_gene_variant ESAD-UK 6 47450308 47450308 single base substitution G T intron_variant ESAD-UK 6 47456345 47456345 deletion of <=200bp C - intron_variant ESAD-UK 6 47457861 47457861 single base substitution C A intron_variant ESAD-UK 6 47458378 47458378 single base substitution T G intron_variant ESAD-UK 6 47459552 47459552 deletion of <=200bp T - intron_variant ESAD-UK 6 47459952 47459952 single base substitution G A intron_variant ESAD-UK 6 47461089 47461089 single base substitution T C intron_variant ESAD-UK 6 47462701 47462701 single base substitution G A intron_variant ESAD-UK 6 47464177 47464177 single base substitution G T intron_variant ESAD-UK 6 47464479 47464479 insertion of <=200bp - T intron_variant ESAD-UK 6 47464883 47464883 single base substitution G T intron_variant ESAD-UK 6 47464981 47464981 insertion of <=200bp - T intron_variant ESAD-UK 6 47468412 47468412 single base substitution G A intron_variant ESAD-UK 6 47470101 47470101 single base substitution C T intron_variant ESAD-UK 6 47470526 47470526 single base substitution C T intron_variant ESAD-UK 6 47470935 47470935 single base substitution C G intron_variant ESAD-UK 6 47470939 47470939 single base substitution G T intron_variant ESAD-UK 6 47472389 47472389 single base substitution C T intron_variant ESAD-UK 6 47477719 47477719 single base substitution C T intron_variant ESAD-UK 6 47479397 47479397 single base substitution A T intron_variant ESAD-UK 6 47481620 47481620 single base substitution T A intron_variant ESAD-UK 6 47484396 47484396 single base substitution A G intron_variant ESAD-UK 6 47485098 47485098 single base substitution G A intron_variant ESAD-UK 6 47488889 47488889 single base substitution G A intron_variant ESAD-UK 6 47494925 47494925 single base substitution C T intron_variant ESAD-UK 6 47499053 47499053 single base substitution A C intron_variant ESAD-UK 6 47499053 47499053 single base substitution A C upstream_gene_variant ESAD-UK 6 47500096 47500097 deletion of <=200bp TA - intron_variant ESAD-UK 6 47500096 47500097 deletion of <=200bp TA - upstream_gene_variant ESAD-UK 6 47503262 47503262 single base substitution A C intron_variant ESAD-UK 6 47504407 47504407 deletion of <=200bp T - intron_variant ESAD-UK 6 47506065 47506065 single base substitution C T intron_variant ESAD-UK 6 47508011 47508011 insertion of <=200bp - T intron_variant ESAD-UK 6 47508168 47508168 single base substitution G C intron_variant ESAD-UK 6 47515759 47515759 single base substitution A C downstream_gene_variant ESAD-UK 6 47515759 47515759 single base substitution A C intron_variant ESAD-UK 6 47521624 47521624 single base substitution T G intron_variant ESAD-UK 6 47523087 47523087 insertion of <=200bp - T intron_variant ESAD-UK 6 47524387 47524387 single base substitution A C intron_variant ESAD-UK 6 47525710 47525710 single base substitution C T intron_variant ESAD-UK 6 47531470 47531470 single base substitution C A intron_variant ESAD-UK 6 47531476 47531476 single base substitution A G intron_variant ESAD-UK 6 47539907 47539907 single base substitution T C intron_variant ESAD-UK 6 47539907 47539907 single base substitution T C upstream_gene_variant ESAD-UK 6 47542792 47542792 single base substitution A T intron_variant ESAD-UK 6 47542792 47542792 single base substitution A T upstream_gene_variant ESAD-UK 6 47545471 47545471 deletion of <=200bp C - intron_variant ESAD-UK 6 47545471 47545471 deletion of <=200bp C - upstream_gene_variant ESAD-UK 6 47546420 47546420 single base substitution C T intron_variant ESAD-UK 6 47546420 47546420 single base substitution C T upstream_gene_variant ESAD-UK 6 47546768 47546768 single base substitution T A intron_variant ESAD-UK 6 47546768 47546768 single base substitution T A upstream_gene_variant ESAD-UK 6 47546778 47546778 single base substitution C T intron_variant ESAD-UK 6 47546778 47546778 single base substitution C T upstream_gene_variant ESAD-UK 6 47550447 47550447 single base substitution T G downstream_gene_variant ESAD-UK 6 47550447 47550447 single base substitution T G intron_variant ESAD-UK 6 47553728 47553728 single base substitution G A downstream_gene_variant ESAD-UK 6 47553728 47553728 single base substitution G A intron_variant ESAD-UK 6 47555764 47555764 single base substitution C T intron_variant ESAD-UK 6 47556591 47556591 single base substitution A G intron_variant ESAD-UK 6 47559427 47559427 single base substitution G A intron_variant ESAD-UK 6 47562166 47562166 deletion of <=200bp T - intron_variant ESAD-UK 6 47564778 47564778 single base substitution A C intron_variant ESAD-UK 6 47567860 47567860 insertion of <=200bp - T intron_variant ESAD-UK 6 47568499 47568499 single base substitution C T intron_variant ESAD-UK 6 47569058 47569058 single base substitution G T intron_variant ESAD-UK 6 47572306 47572306 single base substitution T G intron_variant ESAD-UK 6 47572306 47572306 single base substitution T G upstream_gene_variant ESAD-UK 6 47573637 47573637 single base substitution C T intron_variant ESAD-UK 6 47573637 47573637 single base substitution C T upstream_gene_variant ESAD-UK 6 47575310 47575310 single base substitution A G intron_variant ESAD-UK 6 47575310 47575310 single base substitution A G upstream_gene_variant ESAD-UK 6 47576161 47576161 single base substitution T G intron_variant ESAD-UK 6 47576713 47576713 single base substitution C T intron_variant ESAD-UK 6 47576809 47576809 single base substitution C T intron_variant ESAD-UK 6 47576838 47576838 single base substitution A T intron_variant ESAD-UK 6 47577123 47577123 single base substitution T G exon_variant ESAD-UK 6 47577123 47577123 single base substitution T G intron_variant ESAD-UK 6 47581613 47581613 single base substitution A G downstream_gene_variant ESAD-UK 6 47581613 47581613 single base substitution A G intron_variant ESAD-UK 6 47581650 47581650 single base substitution C T downstream_gene_variant ESAD-UK 6 47581650 47581650 single base substitution C T intron_variant ESAD-UK 6 47581734 47581734 single base substitution G A downstream_gene_variant ESAD-UK 6 47581734 47581734 single base substitution G A intron_variant ESAD-UK 6 47583665 47583665 single base substitution G A intron_variant ESAD-UK 6 47584476 47584476 insertion of <=200bp - A intron_variant ESAD-UK 6 47584770 47584770 single base substitution C G intron_variant ESAD-UK 6 47589252 47589252 single base substitution C T intron_variant ESAD-UK 6 47590874 47590874 single base substitution C G intron_variant ESAD-UK 6 47591215 47591215 single base substitution T C intron_variant ESAD-UK 6 47591523 47591523 single base substitution G A intron_variant ESAD-UK 6 47592551 47592551 single base substitution G A 3_prime_UTR_variant ESAD-UK 6 47592552 47592552 single base substitution A T 3_prime_UTR_variant ESAD-UK 6 47592628 47592628 single base substitution A T 3_prime_UTR_variant ESAD-UK 6 47593181 47593181 single base substitution G A 3_prime_UTR_variant ESAD-UK 6 47595154 47595154 single base substitution T A downstream_gene_variant ESAD-UK 6 47599355 47599355 single base substitution T G downstream_gene_variant GBM-US 6 47512403 47512403 single base substitution G A exon_variant GBM-US 6 47512403 47512403 single base substitution G A synonymous_variant L127L 381G>A GBM-US 6 47547178 47547178 single base substitution C T exon_variant GBM-US 6 47547178 47547178 single base substitution C T missense_variant P321S 961C>T KIRC-US 6 47541956 47541956 single base substitution G C missense_variant S233T 698G>C KIRC-US 6 47541956 47541956 single base substitution G C upstream_gene_variant KIRP-US 6 47471115 47471115 single base substitution A T missense_variant E35V 104A>T LAML-KR 6 47455801 47455801 single base substitution C T intron_variant LAML-KR 6 47465717 47465717 single base substitution T A intron_variant LAML-KR 6 47473683 47473683 single base substitution C T intron_variant LAML-KR 6 47473826 47473826 single base substitution C T intron_variant LAML-KR 6 47548672 47548672 single base substitution C A downstream_gene_variant LAML-KR 6 47548672 47548672 single base substitution C A intron_variant LAML-KR 6 47577064 47577064 single base substitution G A exon_variant LAML-KR 6 47577064 47577064 single base substitution G A intron_variant LAML-KR 6 47591856 47591856 single base substitution T C intron_variant LGG-US 6 47575765 47575765 single base substitution G A splice_donor_variant LICA-CN 6 47471014 47471014 single base substitution A C splice_acceptor_variant LICA-FR 6 47440952 47440952 deletion of <=200bp T - upstream_gene_variant LICA-FR 6 47450117 47450117 deletion of <=200bp T - intron_variant LICA-FR 6 47454272 47454272 single base substitution C T intron_variant LICA-FR 6 47459002 47459007 deletion of <=200bp TGTGTA - intron_variant LICA-FR 6 47460308 47460308 single base substitution C G intron_variant LICA-FR 6 47465043 47465043 insertion of <=200bp - TTTCC intron_variant LICA-FR 6 47465067 47465067 single base substitution C A intron_variant LICA-FR 6 47493672 47493672 single base substitution A G intron_variant LICA-FR 6 47508503 47508503 single base substitution A G intron_variant LICA-FR 6 47546394 47546394 deletion of <=200bp T - intron_variant LICA-FR 6 47546394 47546394 deletion of <=200bp T - upstream_gene_variant LICA-FR 6 47547530 47547530 single base substitution T G exon_variant LICA-FR 6 47547530 47547530 single base substitution T G intron_variant LICA-FR 6 47555874 47555874 single base substitution A G intron_variant LICA-FR 6 47557117 47557117 single base substitution C T intron_variant LICA-FR 6 47580224 47580224 single base substitution A G downstream_gene_variant LICA-FR 6 47580224 47580224 single base substitution A G synonymous_variant K610K 1830A>G LIHC-US 6 47576858 47576858 single base substitution G A splice_acceptor_variant LINC-JP 6 47440787 47440787 single base substitution T G upstream_gene_variant LINC-JP 6 47452101 47452101 single base substitution T G intron_variant LINC-JP 6 47452102 47452102 single base substitution G T intron_variant LINC-JP 6 47454173 47454173 single base substitution A T intron_variant LINC-JP 6 47454174 47454174 single base substitution G A intron_variant LINC-JP 6 47475183 47475183 single base substitution A G intron_variant LINC-JP 6 47491092 47491092 single base substitution T G intron_variant LINC-JP 6 47501423 47501423 single base substitution G T exon_variant LINC-JP 6 47501423 47501423 single base substitution G T missense_variant R84L 251G>T LINC-JP 6 47503474 47503474 single base substitution A G intron_variant LINC-JP 6 47510388 47510388 single base substitution C T intron_variant LINC-JP 6 47512521 47512521 single base substitution A G exon_variant LINC-JP 6 47512521 47512521 single base substitution A G intron_variant LINC-JP 6 47512765 47512765 single base substitution A T exon_variant LINC-JP 6 47512765 47512765 single base substitution A T intron_variant LINC-JP 6 47513858 47513858 single base substitution A G downstream_gene_variant LINC-JP 6 47513858 47513858 single base substitution A G intron_variant LINC-JP 6 47525238 47525238 single base substitution A G intron_variant LINC-JP 6 47526390 47526390 single base substitution G A intron_variant LINC-JP 6 47529724 47529724 single base substitution C G intron_variant LINC-JP 6 47532816 47532816 single base substitution A G intron_variant LINC-JP 6 47539703 47539703 single base substitution C G intron_variant LINC-JP 6 47539703 47539703 single base substitution C G upstream_gene_variant LINC-JP 6 47544167 47544167 single base substitution G A intron_variant LINC-JP 6 47544167 47544167 single base substitution G A upstream_gene_variant LINC-JP 6 47549553 47549553 single base substitution A C downstream_gene_variant LINC-JP 6 47549553 47549553 single base substitution A C intron_variant LINC-JP 6 47555585 47555585 single base substitution A T intron_variant LINC-JP 6 47576452 47576452 single base substitution C G intron_variant LINC-JP 6 47577443 47577443 single base substitution A G downstream_gene_variant LINC-JP 6 47577443 47577443 single base substitution A G intron_variant LINC-JP 6 47579844 47579844 single base substitution A C downstream_gene_variant LINC-JP 6 47579844 47579844 single base substitution A C intron_variant LINC-JP 6 47581700 47581700 single base substitution C A downstream_gene_variant LINC-JP 6 47581700 47581700 single base substitution C A intron_variant LIRI-JP 6 47440689 47440689 single base substitution A G upstream_gene_variant LIRI-JP 6 47442554 47442554 single base substitution T C upstream_gene_variant LIRI-JP 6 47442920 47442920 single base substitution C T upstream_gene_variant LIRI-JP 6 47443241 47443241 single base substitution C T upstream_gene_variant LIRI-JP 6 47451104 47451104 single base substitution A C intron_variant LIRI-JP 6 47451642 47451642 single base substitution G T intron_variant LIRI-JP 6 47452553 47452553 single base substitution A G intron_variant LIRI-JP 6 47454595 47454595 single base substitution A G intron_variant LIRI-JP 6 47456742 47456742 single base substitution T C intron_variant LIRI-JP 6 47458904 47458904 single base substitution G T intron_variant LIRI-JP 6 47461726 47461726 single base substitution A C intron_variant LIRI-JP 6 47464473 47464473 single base substitution T A intron_variant LIRI-JP 6 47467202 47467202 single base substitution C A intron_variant LIRI-JP 6 47467205 47467205 single base substitution A G intron_variant LIRI-JP 6 47467285 47467285 single base substitution C T intron_variant LIRI-JP 6 47467866 47467866 single base substitution A G intron_variant LIRI-JP 6 47471676 47471676 single base substitution A G intron_variant LIRI-JP 6 47471963 47471963 single base substitution C A intron_variant LIRI-JP 6 47474911 47474911 single base substitution A G intron_variant LIRI-JP 6 47477301 47477301 single base substitution A G intron_variant LIRI-JP 6 47481463 47481463 single base substitution A G intron_variant LIRI-JP 6 47482152 47482152 single base substitution A G intron_variant LIRI-JP 6 47484645 47484645 single base substitution T G intron_variant LIRI-JP 6 47486013 47486013 single base substitution A G intron_variant LIRI-JP 6 47486964 47486964 single base substitution A G intron_variant LIRI-JP 6 47487601 47487601 single base substitution G T intron_variant LIRI-JP 6 47489440 47489440 single base substitution A G intron_variant LIRI-JP 6 47490335 47490335 single base substitution A G intron_variant LIRI-JP 6 47492298 47492298 single base substitution T C intron_variant LIRI-JP 6 47495123 47495123 single base substitution A C intron_variant LIRI-JP 6 47496541 47496541 single base substitution A G intron_variant LIRI-JP 6 47496541 47496541 single base substitution A G upstream_gene_variant LIRI-JP 6 47497269 47497269 single base substitution C G intron_variant LIRI-JP 6 47497269 47497269 single base substitution C G upstream_gene_variant LIRI-JP 6 47497493 47497493 single base substitution C T intron_variant LIRI-JP 6 47497493 47497493 single base substitution C T upstream_gene_variant LIRI-JP 6 47497702 47497702 single base substitution C A intron_variant LIRI-JP 6 47497702 47497702 single base substitution C A upstream_gene_variant LIRI-JP 6 47499225 47499225 single base substitution T G intron_variant LIRI-JP 6 47499225 47499225 single base substitution T G upstream_gene_variant LIRI-JP 6 47500909 47500909 single base substitution A G intron_variant LIRI-JP 6 47500909 47500909 single base substitution A G upstream_gene_variant LIRI-JP 6 47501338 47501338 single base substitution G T stop_gained E56* 166G>T LIRI-JP 6 47501338 47501338 single base substitution G T upstream_gene_variant LIRI-JP 6 47501369 47501369 single base substitution A G missense_variant D66G 197A>G LIRI-JP 6 47501369 47501369 single base substitution A G upstream_gene_variant LIRI-JP 6 47501996 47501996 single base substitution G A intron_variant LIRI-JP 6 47503073 47503079 deletion of <=200bp TACAAAA - intron_variant LIRI-JP 6 47503411 47503411 single base substitution G T intron_variant LIRI-JP 6 47504121 47504121 single base substitution A G intron_variant LIRI-JP 6 47505082 47505082 single base substitution T G intron_variant LIRI-JP 6 47507561 47507561 single base substitution A G intron_variant LIRI-JP 6 47509512 47509512 single base substitution A T intron_variant LIRI-JP 6 47509863 47509863 single base substitution C A intron_variant LIRI-JP 6 47511423 47511423 single base substitution C G intron_variant LIRI-JP 6 47514207 47514207 single base substitution A G downstream_gene_variant LIRI-JP 6 47514207 47514207 single base substitution A G intron_variant LIRI-JP 6 47514620 47514620 single base substitution C A downstream_gene_variant LIRI-JP 6 47514620 47514620 single base substitution C A intron_variant LIRI-JP 6 47514780 47514780 single base substitution A T downstream_gene_variant LIRI-JP 6 47514780 47514780 single base substitution A T intron_variant LIRI-JP 6 47515367 47515367 single base substitution C G downstream_gene_variant LIRI-JP 6 47515367 47515367 single base substitution C G intron_variant LIRI-JP 6 47517772 47517772 single base substitution T A downstream_gene_variant LIRI-JP 6 47517772 47517772 single base substitution T A intron_variant LIRI-JP 6 47520377 47520377 single base substitution C G intron_variant LIRI-JP 6 47520470 47520470 single base substitution A G intron_variant LIRI-JP 6 47521009 47521009 single base substitution A T intron_variant LIRI-JP 6 47521751 47521751 single base substitution G A intron_variant LIRI-JP 6 47525364 47525364 single base substitution G A intron_variant LIRI-JP 6 47525856 47525856 single base substitution C T intron_variant LIRI-JP 6 47526504 47526504 single base substitution T C intron_variant LIRI-JP 6 47526921 47526921 single base substitution T G intron_variant LIRI-JP 6 47527442 47527442 single base substitution A G intron_variant LIRI-JP 6 47529780 47529780 single base substitution G A intron_variant LIRI-JP 6 47531567 47531567 single base substitution T C intron_variant LIRI-JP 6 47531718 47531718 single base substitution T A intron_variant LIRI-JP 6 47532116 47532116 single base substitution G C intron_variant LIRI-JP 6 47532591 47532591 single base substitution A G intron_variant LIRI-JP 6 47532636 47532636 single base substitution C G intron_variant LIRI-JP 6 47532675 47532680 deletion of <=200bp TTTAAA - intron_variant LIRI-JP 6 47532875 47532875 single base substitution A T intron_variant LIRI-JP 6 47532977 47532977 single base substitution C G intron_variant LIRI-JP 6 47533003 47533003 single base substitution G T intron_variant LIRI-JP 6 47533289 47533289 single base substitution A G intron_variant LIRI-JP 6 47536733 47536733 single base substitution A G intron_variant LIRI-JP 6 47537236 47537252 deletion of <=200bp TTAAATGTTTGTGCCAT - intron_variant LIRI-JP 6 47537946 47537946 single base substitution A G intron_variant LIRI-JP 6 47538656 47538656 single base substitution A G intron_variant LIRI-JP 6 47539863 47539863 single base substitution G A intron_variant LIRI-JP 6 47539863 47539863 single base substitution G A upstream_gene_variant LIRI-JP 6 47539881 47539881 single base substitution G C intron_variant LIRI-JP 6 47539881 47539881 single base substitution G C upstream_gene_variant LIRI-JP 6 47540006 47540006 single base substitution A T intron_variant LIRI-JP 6 47540006 47540006 single base substitution A T upstream_gene_variant LIRI-JP 6 47541958 47541958 single base substitution A C missense_variant S234R 700A>C LIRI-JP 6 47541958 47541958 single base substitution A C upstream_gene_variant LIRI-JP 6 47542052 47542052 single base substitution A G intron_variant LIRI-JP 6 47542052 47542052 single base substitution A G upstream_gene_variant LIRI-JP 6 47544450 47544450 single base substitution A G intron_variant LIRI-JP 6 47544450 47544450 single base substitution A G upstream_gene_variant LIRI-JP 6 47544955 47544955 single base substitution G A intron_variant LIRI-JP 6 47544955 47544955 single base substitution G A upstream_gene_variant LIRI-JP 6 47545416 47545416 single base substitution A C intron_variant LIRI-JP 6 47545416 47545416 single base substitution A C upstream_gene_variant LIRI-JP 6 47546004 47546004 single base substitution A G intron_variant LIRI-JP 6 47546004 47546004 single base substitution A G upstream_gene_variant LIRI-JP 6 47546303 47546303 single base substitution A G intron_variant LIRI-JP 6 47546303 47546303 single base substitution A G upstream_gene_variant LIRI-JP 6 47547315 47547315 single base substitution A G exon_variant LIRI-JP 6 47547315 47547315 single base substitution A G intron_variant LIRI-JP 6 47547602 47547602 single base substitution C T exon_variant LIRI-JP 6 47547602 47547602 single base substitution C T intron_variant LIRI-JP 6 47547780 47547780 single base substitution G A downstream_gene_variant LIRI-JP 6 47547780 47547780 single base substitution G A intron_variant LIRI-JP 6 47548491 47548491 single base substitution A G downstream_gene_variant LIRI-JP 6 47548491 47548491 single base substitution A G intron_variant LIRI-JP 6 47549841 47549841 deletion of <=200bp T - downstream_gene_variant LIRI-JP 6 47549841 47549841 deletion of <=200bp T - exon_variant LIRI-JP 6 47549841 47549841 deletion of <=200bp T - intron_variant LIRI-JP 6 47550882 47550882 single base substitution C A downstream_gene_variant LIRI-JP 6 47550882 47550882 single base substitution C A intron_variant LIRI-JP 6 47553681 47553681 single base substitution A G downstream_gene_variant LIRI-JP 6 47553681 47553681 single base substitution A G intron_variant LIRI-JP 6 47555032 47555032 single base substitution C G intron_variant LIRI-JP 6 47556124 47556124 single base substitution A G intron_variant LIRI-JP 6 47558983 47558983 single base substitution G T intron_variant LIRI-JP 6 47559156 47559156 single base substitution G A intron_variant LIRI-JP 6 47561037 47561037 single base substitution A T intron_variant LIRI-JP 6 47561660 47561660 single base substitution G A intron_variant LIRI-JP 6 47564281 47564281 single base substitution G T intron_variant LIRI-JP 6 47565027 47565027 deletion of <=200bp C - intron_variant LIRI-JP 6 47566161 47566161 single base substitution A G intron_variant LIRI-JP 6 47568161 47568161 single base substitution T G intron_variant LIRI-JP 6 47569393 47569393 single base substitution G A intron_variant LIRI-JP 6 47571518 47571518 single base substitution C T intron_variant LIRI-JP 6 47571518 47571518 single base substitution C T upstream_gene_variant LIRI-JP 6 47576419 47576419 single base substitution T A intron_variant LIRI-JP 6 47585804 47585804 single base substitution C G intron_variant LIRI-JP 6 47586065 47586065 single base substitution A C intron_variant LIRI-JP 6 47588719 47588719 single base substitution C T intron_variant LIRI-JP 6 47591528 47591528 single base substitution A G intron_variant LIRI-JP 6 47591749 47591749 single base substitution A G intron_variant LIRI-JP 6 47592918 47592918 single base substitution A T 3_prime_UTR_variant LIRI-JP 6 47593020 47593020 single base substitution C T 3_prime_UTR_variant LIRI-JP 6 47595641 47595641 single base substitution A G downstream_gene_variant LIRI-JP 6 47597137 47597137 single base substitution A G downstream_gene_variant LIRI-JP 6 47597318 47597318 single base substitution A G downstream_gene_variant LIRI-JP 6 47597617 47597617 single base substitution T A downstream_gene_variant LIRI-JP 6 47598203 47598203 single base substitution C T downstream_gene_variant LIRI-JP 6 47599255 47599255 single base substitution C T downstream_gene_variant LIRI-JP 6 47599392 47599392 single base substitution A T downstream_gene_variant LIRI-JP 6 47599455 47599455 single base substitution G T downstream_gene_variant LIRI-JP 6 47599956 47599956 single base substitution G A downstream_gene_variant LUSC-KR 6 47465073 47465073 single base substitution C T intron_variant LUSC-KR 6 47470430 47470430 single base substitution A T intron_variant LUSC-KR 6 47472746 47472746 single base substitution T A intron_variant LUSC-KR 6 47473529 47473529 single base substitution G T intron_variant LUSC-KR 6 47473573 47473573 single base substitution T C intron_variant LUSC-KR 6 47473683 47473683 single base substitution C T intron_variant LUSC-KR 6 47473754 47473754 single base substitution G A intron_variant LUSC-KR 6 47473906 47473906 single base substitution C T intron_variant LUSC-KR 6 47473961 47473961 single base substitution C T intron_variant LUSC-KR 6 47474098 47474098 single base substitution C T intron_variant LUSC-KR 6 47475618 47475618 single base substitution C T intron_variant LUSC-KR 6 47476281 47476281 single base substitution T G intron_variant LUSC-KR 6 47480621 47480621 single base substitution A G intron_variant LUSC-KR 6 47483693 47483693 single base substitution A G intron_variant LUSC-KR 6 47490046 47490046 single base substitution G T intron_variant LUSC-KR 6 47501291 47501291 single base substitution A C intron_variant LUSC-KR 6 47501291 47501291 single base substitution A C upstream_gene_variant LUSC-KR 6 47506591 47506591 single base substitution T A intron_variant LUSC-KR 6 47508947 47508947 single base substitution C T intron_variant LUSC-KR 6 47512229 47512229 single base substitution C T intron_variant LUSC-KR 6 47514668 47514668 single base substitution A T downstream_gene_variant LUSC-KR 6 47514668 47514668 single base substitution A T intron_variant LUSC-KR 6 47517482 47517482 single base substitution A G downstream_gene_variant LUSC-KR 6 47517482 47517482 single base substitution A G intron_variant LUSC-KR 6 47518440 47518440 single base substitution C T intron_variant LUSC-KR 6 47519544 47519544 single base substitution G A intron_variant LUSC-KR 6 47521419 47521419 single base substitution C G intron_variant LUSC-KR 6 47521866 47521866 single base substitution C G intron_variant LUSC-KR 6 47522357 47522357 single base substitution G A intron_variant LUSC-KR 6 47529580 47529580 single base substitution G A intron_variant LUSC-KR 6 47533601 47533601 single base substitution A G intron_variant LUSC-KR 6 47540205 47540205 single base substitution G T intron_variant LUSC-KR 6 47540205 47540205 single base substitution G T upstream_gene_variant LUSC-KR 6 47541639 47541639 single base substitution A G intron_variant LUSC-KR 6 47541639 47541639 single base substitution A G upstream_gene_variant LUSC-KR 6 47547026 47547026 single base substitution G A intron_variant LUSC-KR 6 47547026 47547026 single base substitution G A upstream_gene_variant LUSC-KR 6 47549883 47549883 single base substitution T C downstream_gene_variant LUSC-KR 6 47549883 47549883 single base substitution T C exon_variant LUSC-KR 6 47549883 47549883 single base substitution T C intron_variant LUSC-KR 6 47557117 47557117 single base substitution C T intron_variant LUSC-KR 6 47557303 47557303 single base substitution T C intron_variant LUSC-KR 6 47558686 47558686 single base substitution G T intron_variant LUSC-KR 6 47575839 47575839 single base substitution G T intron_variant LUSC-KR 6 47577064 47577064 single base substitution G A exon_variant LUSC-KR 6 47577064 47577064 single base substitution G A intron_variant LUSC-KR 6 47579610 47579610 single base substitution T A downstream_gene_variant LUSC-KR 6 47579610 47579610 single base substitution T A intron_variant LUSC-KR 6 47585777 47585777 single base substitution G T intron_variant LUSC-KR 6 47587888 47587888 single base substitution G T intron_variant LUSC-KR 6 47587909 47587909 single base substitution C T intron_variant LUSC-KR 6 47589012 47589012 single base substitution G A intron_variant LUSC-KR 6 47593267 47593267 single base substitution A C 3_prime_UTR_variant LUSC-KR 6 47594002 47594002 single base substitution T C 3_prime_UTR_variant LUSC-KR 6 47595699 47595699 single base substitution C T downstream_gene_variant MALY-DE 6 47444027 47444027 single base substitution T G upstream_gene_variant MALY-DE 6 47444035 47444035 single base substitution T G upstream_gene_variant MALY-DE 6 47448583 47448583 single base substitution A G intron_variant MALY-DE 6 47454183 47454183 single base substitution C T intron_variant MALY-DE 6 47455791 47455791 single base substitution C T intron_variant MALY-DE 6 47456625 47456625 insertion of <=200bp - A intron_variant MALY-DE 6 47465902 47465902 single base substitution T C intron_variant MALY-DE 6 47467471 47467473 deletion of <=200bp TTG - intron_variant MALY-DE 6 47476143 47476143 single base substitution T C intron_variant MALY-DE 6 47478810 47478811 deletion of <=200bp AA - intron_variant MALY-DE 6 47480310 47480310 single base substitution T G intron_variant MALY-DE 6 47481432 47481432 single base substitution T G intron_variant MALY-DE 6 47482883 47482883 single base substitution T C intron_variant MALY-DE 6 47482898 47482898 single base substitution T A intron_variant MALY-DE 6 47485028 47485028 single base substitution T A intron_variant MALY-DE 6 47485426 47485426 single base substitution T C intron_variant MALY-DE 6 47488108 47488108 single base substitution T C intron_variant MALY-DE 6 47516587 47516587 single base substitution C T downstream_gene_variant MALY-DE 6 47516587 47516587 single base substitution C T intron_variant MALY-DE 6 47517985 47517985 single base substitution A T intron_variant MALY-DE 6 47525780 47525780 single base substitution C T intron_variant MALY-DE 6 47532346 47532346 single base substitution A C intron_variant MALY-DE 6 47549449 47549449 single base substitution A G downstream_gene_variant MALY-DE 6 47549449 47549449 single base substitution A G intron_variant MALY-DE 6 47553732 47553732 single base substitution A G downstream_gene_variant MALY-DE 6 47553732 47553732 single base substitution A G intron_variant MALY-DE 6 47573800 47573800 single base substitution A C intron_variant MALY-DE 6 47573800 47573800 single base substitution A C upstream_gene_variant MALY-DE 6 47573840 47573840 single base substitution A C intron_variant MALY-DE 6 47573840 47573840 single base substitution A C upstream_gene_variant MALY-DE 6 47574099 47574099 single base substitution A C intron_variant MALY-DE 6 47574099 47574099 single base substitution A C upstream_gene_variant MALY-DE 6 47581019 47581019 single base substitution C T downstream_gene_variant MALY-DE 6 47581019 47581019 single base substitution C T intron_variant MALY-DE 6 47581835 47581835 single base substitution T C downstream_gene_variant MALY-DE 6 47581835 47581835 single base substitution T C intron_variant MALY-DE 6 47584474 47584474 single base substitution T A intron_variant MALY-DE 6 47589240 47589240 single base substitution C T intron_variant MALY-DE 6 47593766 47593766 single base substitution T C 3_prime_UTR_variant MALY-DE 6 47598828 47598828 single base substitution A G downstream_gene_variant MELA-AU 6 47440829 47440829 single base substitution T C upstream_gene_variant MELA-AU 6 47440961 47440961 single base substitution T A upstream_gene_variant MELA-AU 6 47441578 47441578 single base substitution G A upstream_gene_variant MELA-AU 6 47442050 47442050 single base substitution C T upstream_gene_variant MELA-AU 6 47442112 47442112 single base substitution G C upstream_gene_variant MELA-AU 6 47442825 47442825 single base substitution A G upstream_gene_variant MELA-AU 6 47443279 47443279 single base substitution G A upstream_gene_variant MELA-AU 6 47443740 47443740 single base substitution G A upstream_gene_variant MELA-AU 6 47445005 47445005 single base substitution C T upstream_gene_variant MELA-AU 6 47445485 47445485 single base substitution T C upstream_gene_variant MELA-AU 6 47445519 47445519 single base substitution C T upstream_gene_variant MELA-AU 6 47445778 47445778 single base substitution C T 5_prime_UTR_variant MELA-AU 6 47447095 47447099 deletion of <=200bp CTGTC - intron_variant MELA-AU 6 47448424 47448424 single base substitution G A intron_variant MELA-AU 6 47448430 47448430 single base substitution C A intron_variant MELA-AU 6 47448642 47448642 single base substitution C T intron_variant MELA-AU 6 47449693 47449693 single base substitution C T intron_variant MELA-AU 6 47449699 47449699 single base substitution C T intron_variant MELA-AU 6 47450155 47450156 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 6 47451338 47451338 single base substitution C T intron_variant MELA-AU 6 47452694 47452694 single base substitution C T intron_variant MELA-AU 6 47452845 47452845 single base substitution A G intron_variant MELA-AU 6 47455834 47455834 single base substitution C T intron_variant MELA-AU 6 47456075 47456075 single base substitution T G intron_variant MELA-AU 6 47457026 47457026 single base substitution C T intron_variant MELA-AU 6 47457306 47457306 single base substitution C T intron_variant MELA-AU 6 47457471 47457471 single base substitution G A intron_variant MELA-AU 6 47457609 47457609 single base substitution C T intron_variant MELA-AU 6 47459293 47459293 single base substitution A T intron_variant MELA-AU 6 47459522 47459522 single base substitution C T intron_variant MELA-AU 6 47459738 47459738 single base substitution C T intron_variant MELA-AU 6 47459899 47459899 single base substitution C T intron_variant MELA-AU 6 47460129 47460129 single base substitution C T intron_variant MELA-AU 6 47460131 47460131 single base substitution C T intron_variant MELA-AU 6 47460153 47460153 single base substitution A G intron_variant MELA-AU 6 47460586 47460586 single base substitution A T intron_variant MELA-AU 6 47460970 47460970 single base substitution C T intron_variant MELA-AU 6 47461579 47461579 single base substitution T C intron_variant MELA-AU 6 47461859 47461859 single base substitution T A intron_variant MELA-AU 6 47463045 47463045 single base substitution G A intron_variant MELA-AU 6 47463731 47463731 single base substitution C T intron_variant MELA-AU 6 47464221 47464221 single base substitution G A intron_variant MELA-AU 6 47464329 47464329 single base substitution A C intron_variant MELA-AU 6 47465033 47465033 single base substitution C T intron_variant MELA-AU 6 47465722 47465722 single base substitution C T intron_variant MELA-AU 6 47465980 47465980 single base substitution C T intron_variant MELA-AU 6 47466089 47466089 single base substitution C T intron_variant MELA-AU 6 47466111 47466111 single base substitution C T intron_variant MELA-AU 6 47466933 47466933 single base substitution C T intron_variant MELA-AU 6 47467220 47467220 single base substitution C T intron_variant MELA-AU 6 47467656 47467656 single base substitution G A intron_variant MELA-AU 6 47468119 47468119 single base substitution A G intron_variant MELA-AU 6 47468179 47468179 single base substitution T G intron_variant MELA-AU 6 47468211 47468211 single base substitution G A intron_variant MELA-AU 6 47468410 47468410 single base substitution G A intron_variant MELA-AU 6 47468471 47468471 single base substitution C T intron_variant MELA-AU 6 47468902 47468902 single base substitution C T intron_variant MELA-AU 6 47469573 47469573 single base substitution C T intron_variant MELA-AU 6 47469811 47469811 single base substitution C T intron_variant MELA-AU 6 47470328 47470328 single base substitution C T intron_variant MELA-AU 6 47470483 47470483 single base substitution C T intron_variant MELA-AU 6 47471170 47471170 single base substitution C T synonymous_variant F53F 159C>T MELA-AU 6 47471503 47471503 single base substitution C T intron_variant MELA-AU 6 47471683 47471683 single base substitution T G intron_variant MELA-AU 6 47471835 47471835 single base substitution C T intron_variant MELA-AU 6 47472443 47472443 single base substitution C T intron_variant MELA-AU 6 47472716 47472716 single base substitution T C intron_variant MELA-AU 6 47473217 47473217 single base substitution C T intron_variant MELA-AU 6 47473320 47473320 single base substitution C G intron_variant MELA-AU 6 47474637 47474637 single base substitution C T intron_variant MELA-AU 6 47475045 47475045 single base substitution C G intron_variant MELA-AU 6 47475408 47475408 single base substitution C T intron_variant MELA-AU 6 47475946 47475946 single base substitution C T intron_variant MELA-AU 6 47476564 47476564 single base substitution A T intron_variant MELA-AU 6 47478482 47478482 single base substitution C T intron_variant MELA-AU 6 47478576 47478576 single base substitution C T intron_variant MELA-AU 6 47478985 47478985 single base substitution C T intron_variant MELA-AU 6 47480161 47480161 single base substitution A G intron_variant MELA-AU 6 47480193 47480193 single base substitution G A intron_variant MELA-AU 6 47480322 47480322 single base substitution C T intron_variant MELA-AU 6 47481072 47481072 single base substitution C T intron_variant MELA-AU 6 47481307 47481307 single base substitution T C intron_variant MELA-AU 6 47481729 47481729 single base substitution C T intron_variant MELA-AU 6 47482346 47482346 single base substitution G A intron_variant MELA-AU 6 47482350 47482350 single base substitution C T intron_variant MELA-AU 6 47482354 47482354 single base substitution C T intron_variant MELA-AU 6 47483062 47483062 single base substitution T A intron_variant MELA-AU 6 47483558 47483558 single base substitution C T intron_variant MELA-AU 6 47483633 47483634 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 6 47483761 47483761 single base substitution T A intron_variant MELA-AU 6 47484421 47484422 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 6 47484868 47484868 single base substitution C T intron_variant MELA-AU 6 47484870 47484870 single base substitution T G intron_variant MELA-AU 6 47485140 47485140 single base substitution C G intron_variant MELA-AU 6 47485155 47485155 single base substitution C T intron_variant MELA-AU 6 47486193 47486193 single base substitution T A intron_variant MELA-AU 6 47487821 47487821 single base substitution G C intron_variant MELA-AU 6 47488167 47488167 single base substitution C T intron_variant MELA-AU 6 47488669 47488669 single base substitution C T intron_variant MELA-AU 6 47488990 47488990 single base substitution T A intron_variant MELA-AU 6 47489246 47489247 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 47489533 47489533 single base substitution C T intron_variant MELA-AU 6 47489579 47489579 single base substitution C T intron_variant MELA-AU 6 47490405 47490405 single base substitution C T intron_variant MELA-AU 6 47490851 47490851 single base substitution G A intron_variant MELA-AU 6 47491484 47491484 single base substitution T A intron_variant MELA-AU 6 47491522 47491522 single base substitution C T intron_variant MELA-AU 6 47491772 47491772 single base substitution C T intron_variant MELA-AU 6 47491896 47491896 single base substitution C T intron_variant MELA-AU 6 47492354 47492354 single base substitution T C intron_variant MELA-AU 6 47492645 47492645 single base substitution G A intron_variant MELA-AU 6 47492969 47492969 single base substitution C T intron_variant MELA-AU 6 47492996 47492996 single base substitution C T intron_variant MELA-AU 6 47493603 47493603 single base substitution C T intron_variant MELA-AU 6 47493622 47493622 single base substitution C T intron_variant MELA-AU 6 47493862 47493862 single base substitution C T intron_variant MELA-AU 6 47494218 47494218 single base substitution C T intron_variant MELA-AU 6 47494808 47494808 single base substitution C T intron_variant MELA-AU 6 47494828 47494828 single base substitution C T intron_variant MELA-AU 6 47494849 47494849 single base substitution C T intron_variant MELA-AU 6 47495537 47495537 single base substitution C T intron_variant MELA-AU 6 47495691 47495691 single base substitution T A intron_variant MELA-AU 6 47497039 47497039 single base substitution T C intron_variant MELA-AU 6 47497039 47497039 single base substitution T C upstream_gene_variant MELA-AU 6 47497268 47497268 single base substitution C T intron_variant MELA-AU 6 47497268 47497268 single base substitution C T upstream_gene_variant MELA-AU 6 47497317 47497317 single base substitution T C intron_variant MELA-AU 6 47497317 47497317 single base substitution T C upstream_gene_variant MELA-AU 6 47497366 47497366 single base substitution G T intron_variant MELA-AU 6 47497366 47497366 single base substitution G T upstream_gene_variant MELA-AU 6 47497476 47497476 single base substitution C T intron_variant MELA-AU 6 47497476 47497476 single base substitution C T upstream_gene_variant MELA-AU 6 47498952 47498952 single base substitution C G intron_variant MELA-AU 6 47498952 47498952 single base substitution C G upstream_gene_variant MELA-AU 6 47499521 47499521 single base substitution C T intron_variant MELA-AU 6 47499521 47499521 single base substitution C T upstream_gene_variant MELA-AU 6 47499831 47499831 single base substitution C T intron_variant MELA-AU 6 47499831 47499831 single base substitution C T upstream_gene_variant MELA-AU 6 47500276 47500276 single base substitution C T intron_variant MELA-AU 6 47500276 47500276 single base substitution C T upstream_gene_variant MELA-AU 6 47501506 47501506 single base substitution C T intron_variant MELA-AU 6 47501672 47501672 single base substitution C T intron_variant MELA-AU 6 47502182 47502182 single base substitution C T intron_variant MELA-AU 6 47502397 47502397 single base substitution C T intron_variant MELA-AU 6 47503359 47503359 single base substitution G A intron_variant MELA-AU 6 47503677 47503677 single base substitution C T intron_variant MELA-AU 6 47505003 47505003 single base substitution T A intron_variant MELA-AU 6 47505384 47505384 single base substitution T A intron_variant MELA-AU 6 47505864 47505864 single base substitution C T intron_variant MELA-AU 6 47505959 47505959 single base substitution A G intron_variant MELA-AU 6 47506007 47506007 single base substitution C T intron_variant MELA-AU 6 47506027 47506027 single base substitution G A intron_variant MELA-AU 6 47506207 47506207 single base substitution C T intron_variant MELA-AU 6 47506226 47506226 single base substitution C T intron_variant MELA-AU 6 47507065 47507065 single base substitution G A intron_variant MELA-AU 6 47507567 47507567 single base substitution T G intron_variant MELA-AU 6 47507574 47507574 deletion of <=200bp T - intron_variant MELA-AU 6 47508211 47508211 single base substitution C T intron_variant MELA-AU 6 47509274 47509274 single base substitution G T intron_variant MELA-AU 6 47509849 47509849 single base substitution C T intron_variant MELA-AU 6 47510223 47510223 single base substitution G A intron_variant MELA-AU 6 47511935 47511935 single base substitution C T intron_variant MELA-AU 6 47512043 47512043 single base substitution C T intron_variant MELA-AU 6 47512143 47512143 single base substitution G A intron_variant MELA-AU 6 47512368 47512368 single base substitution C T exon_variant MELA-AU 6 47512368 47512368 single base substitution C T missense_variant L116F 346C>T MELA-AU 6 47513122 47513122 single base substitution C T downstream_gene_variant MELA-AU 6 47513122 47513122 single base substitution C T intron_variant MELA-AU 6 47513404 47513404 single base substitution G A downstream_gene_variant MELA-AU 6 47513404 47513404 single base substitution G A intron_variant MELA-AU 6 47513780 47513780 single base substitution T G downstream_gene_variant MELA-AU 6 47513780 47513780 single base substitution T G intron_variant MELA-AU 6 47513885 47513885 single base substitution C T downstream_gene_variant MELA-AU 6 47513885 47513885 single base substitution C T intron_variant MELA-AU 6 47513911 47513911 single base substitution C T downstream_gene_variant MELA-AU 6 47513911 47513911 single base substitution C T intron_variant MELA-AU 6 47514569 47514569 single base substitution C T downstream_gene_variant MELA-AU 6 47514569 47514569 single base substitution C T intron_variant MELA-AU 6 47515705 47515705 single base substitution C T downstream_gene_variant MELA-AU 6 47515705 47515705 single base substitution C T intron_variant MELA-AU 6 47515730 47515730 single base substitution C T downstream_gene_variant MELA-AU 6 47515730 47515730 single base substitution C T intron_variant MELA-AU 6 47516593 47516593 single base substitution G A downstream_gene_variant MELA-AU 6 47516593 47516593 single base substitution G A intron_variant MELA-AU 6 47517402 47517402 single base substitution C T downstream_gene_variant MELA-AU 6 47517402 47517402 single base substitution C T intron_variant MELA-AU 6 47518092 47518092 single base substitution A C intron_variant MELA-AU 6 47519065 47519065 single base substitution T A intron_variant MELA-AU 6 47519495 47519495 single base substitution G A intron_variant MELA-AU 6 47519602 47519602 single base substitution C T intron_variant MELA-AU 6 47519780 47519780 single base substitution C T intron_variant MELA-AU 6 47519835 47519835 single base substitution C T intron_variant MELA-AU 6 47520959 47520959 single base substitution C G intron_variant MELA-AU 6 47521173 47521173 single base substitution C T intron_variant MELA-AU 6 47522242 47522242 single base substitution C T intron_variant MELA-AU 6 47522408 47522408 single base substitution C T synonymous_variant T149T 447C>T MELA-AU 6 47522702 47522702 single base substitution C T intron_variant MELA-AU 6 47523569 47523569 single base substitution C T intron_variant MELA-AU 6 47523933 47523933 single base substitution C T intron_variant MELA-AU 6 47524873 47524873 single base substitution C T intron_variant MELA-AU 6 47525502 47525503 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 47525735 47525735 single base substitution C T intron_variant MELA-AU 6 47526124 47526124 single base substitution C T intron_variant MELA-AU 6 47526312 47526312 single base substitution T G intron_variant MELA-AU 6 47526734 47526734 single base substitution C T intron_variant MELA-AU 6 47528311 47528311 single base substitution C T intron_variant MELA-AU 6 47528418 47528418 single base substitution A T intron_variant MELA-AU 6 47528660 47528660 single base substitution C T intron_variant MELA-AU 6 47529408 47529408 single base substitution C T intron_variant MELA-AU 6 47529443 47529443 single base substitution A T intron_variant MELA-AU 6 47529535 47529535 single base substitution G T intron_variant MELA-AU 6 47529609 47529609 single base substitution C T intron_variant MELA-AU 6 47529962 47529962 single base substitution C T intron_variant MELA-AU 6 47530024 47530024 single base substitution G A intron_variant MELA-AU 6 47530040 47530040 single base substitution C T intron_variant MELA-AU 6 47530127 47530127 single base substitution A C intron_variant MELA-AU 6 47530499 47530499 single base substitution A T intron_variant MELA-AU 6 47530518 47530518 single base substitution C T intron_variant MELA-AU 6 47530846 47530846 single base substitution G A intron_variant MELA-AU 6 47531355 47531355 single base substitution C T intron_variant MELA-AU 6 47532390 47532390 single base substitution A T intron_variant MELA-AU 6 47533753 47533753 single base substitution T C intron_variant MELA-AU 6 47534202 47534202 single base substitution A G intron_variant MELA-AU 6 47535108 47535108 single base substitution C T intron_variant MELA-AU 6 47536362 47536362 single base substitution C T intron_variant MELA-AU 6 47536417 47536417 single base substitution T C intron_variant MELA-AU 6 47536491 47536491 single base substitution T G intron_variant MELA-AU 6 47536492 47536492 insertion of <=200bp - AAATAAAG intron_variant MELA-AU 6 47537478 47537478 single base substitution C T intron_variant MELA-AU 6 47537936 47537936 single base substitution C T intron_variant MELA-AU 6 47538119 47538119 single base substitution C T intron_variant MELA-AU 6 47538253 47538253 single base substitution C T intron_variant MELA-AU 6 47538273 47538273 single base substitution C T intron_variant MELA-AU 6 47540770 47540770 single base substitution G C intron_variant MELA-AU 6 47540770 47540770 single base substitution G C upstream_gene_variant MELA-AU 6 47540897 47540897 single base substitution C T intron_variant MELA-AU 6 47540897 47540897 single base substitution C T upstream_gene_variant MELA-AU 6 47541186 47541186 single base substitution C G intron_variant MELA-AU 6 47541186 47541186 single base substitution C G upstream_gene_variant MELA-AU 6 47541452 47541452 single base substitution C T intron_variant MELA-AU 6 47541452 47541452 single base substitution C T upstream_gene_variant MELA-AU 6 47541817 47541817 single base substitution C T missense_variant P187S 559C>T MELA-AU 6 47541817 47541817 single base substitution C T upstream_gene_variant MELA-AU 6 47541892 47541892 single base substitution C T stop_gained R212* 634C>T MELA-AU 6 47541892 47541892 single base substitution C T upstream_gene_variant MELA-AU 6 47542081 47542081 single base substitution C T intron_variant MELA-AU 6 47542081 47542081 single base substitution C T upstream_gene_variant MELA-AU 6 47542805 47542805 single base substitution C T intron_variant MELA-AU 6 47542805 47542805 single base substitution C T upstream_gene_variant MELA-AU 6 47542861 47542862 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 47542861 47542862 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 47543644 47543644 single base substitution C T intron_variant MELA-AU 6 47543644 47543644 single base substitution C T upstream_gene_variant MELA-AU 6 47544108 47544108 single base substitution T A intron_variant MELA-AU 6 47544108 47544108 single base substitution T A upstream_gene_variant MELA-AU 6 47544705 47544705 single base substitution C T intron_variant MELA-AU 6 47544705 47544705 single base substitution C T upstream_gene_variant MELA-AU 6 47545026 47545026 single base substitution T A intron_variant MELA-AU 6 47545026 47545026 single base substitution T A upstream_gene_variant MELA-AU 6 47545132 47545132 single base substitution C T intron_variant MELA-AU 6 47545132 47545132 single base substitution C T upstream_gene_variant MELA-AU 6 47545387 47545387 single base substitution G A intron_variant MELA-AU 6 47545387 47545387 single base substitution G A upstream_gene_variant MELA-AU 6 47545872 47545872 single base substitution C T intron_variant MELA-AU 6 47545872 47545872 single base substitution C T upstream_gene_variant MELA-AU 6 47546153 47546153 single base substitution C T intron_variant MELA-AU 6 47546153 47546153 single base substitution C T upstream_gene_variant MELA-AU 6 47546273 47546273 single base substitution G C intron_variant MELA-AU 6 47546273 47546273 single base substitution G C upstream_gene_variant MELA-AU 6 47546502 47546502 single base substitution C T intron_variant MELA-AU 6 47546502 47546502 single base substitution C T upstream_gene_variant MELA-AU 6 47547179 47547179 single base substitution C T exon_variant MELA-AU 6 47547179 47547179 single base substitution C T missense_variant P321L 962C>T MELA-AU 6 47547635 47547635 single base substitution C T exon_variant MELA-AU 6 47547635 47547635 single base substitution C T intron_variant MELA-AU 6 47548967 47548967 single base substitution T C downstream_gene_variant MELA-AU 6 47548967 47548967 single base substitution T C intron_variant MELA-AU 6 47549980 47549980 single base substitution A T downstream_gene_variant MELA-AU 6 47549980 47549980 single base substitution A T exon_variant MELA-AU 6 47549980 47549980 single base substitution A T intron_variant MELA-AU 6 47550113 47550113 single base substitution C T downstream_gene_variant MELA-AU 6 47550113 47550113 single base substitution C T intron_variant MELA-AU 6 47550805 47550805 single base substitution C T downstream_gene_variant MELA-AU 6 47550805 47550805 single base substitution C T intron_variant MELA-AU 6 47552166 47552166 single base substitution T A downstream_gene_variant MELA-AU 6 47552166 47552166 single base substitution T A intron_variant MELA-AU 6 47552710 47552710 single base substitution C T downstream_gene_variant MELA-AU 6 47552710 47552710 single base substitution C T intron_variant MELA-AU 6 47552755 47552755 single base substitution C T downstream_gene_variant MELA-AU 6 47552755 47552755 single base substitution C T intron_variant MELA-AU 6 47552934 47552934 single base substitution G A downstream_gene_variant MELA-AU 6 47552934 47552934 single base substitution G A intron_variant MELA-AU 6 47553092 47553092 single base substitution C T downstream_gene_variant MELA-AU 6 47553092 47553092 single base substitution C T intron_variant MELA-AU 6 47553333 47553333 single base substitution G A downstream_gene_variant MELA-AU 6 47553333 47553333 single base substitution G A intron_variant MELA-AU 6 47553478 47553478 single base substitution C T downstream_gene_variant MELA-AU 6 47553478 47553478 single base substitution C T intron_variant MELA-AU 6 47553868 47553868 single base substitution A T downstream_gene_variant MELA-AU 6 47553868 47553868 single base substitution A T intron_variant MELA-AU 6 47553948 47553948 single base substitution C T downstream_gene_variant MELA-AU 6 47553948 47553948 single base substitution C T intron_variant MELA-AU 6 47554527 47554527 single base substitution C T downstream_gene_variant MELA-AU 6 47554527 47554527 single base substitution C T intron_variant MELA-AU 6 47554849 47554849 single base substitution C T downstream_gene_variant MELA-AU 6 47554849 47554849 single base substitution C T intron_variant MELA-AU 6 47554896 47554896 single base substitution A T downstream_gene_variant MELA-AU 6 47554896 47554896 single base substitution A T intron_variant MELA-AU 6 47555346 47555346 single base substitution C T intron_variant MELA-AU 6 47555438 47555438 single base substitution T G intron_variant MELA-AU 6 47555503 47555503 single base substitution C T intron_variant MELA-AU 6 47556836 47556836 single base substitution G A intron_variant MELA-AU 6 47557109 47557109 single base substitution T C intron_variant MELA-AU 6 47557287 47557287 single base substitution T C intron_variant MELA-AU 6 47558099 47558100 multiple base substitution (>=2bp and <=200bp) TT GA intron_variant MELA-AU 6 47558182 47558183 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 47558613 47558613 single base substitution G A intron_variant MELA-AU 6 47559677 47559677 single base substitution C T intron_variant MELA-AU 6 47559957 47559957 single base substitution C T intron_variant MELA-AU 6 47559965 47559965 single base substitution C G intron_variant MELA-AU 6 47560464 47560464 single base substitution G A intron_variant MELA-AU 6 47560587 47560587 single base substitution C T intron_variant MELA-AU 6 47562358 47562358 single base substitution C T intron_variant MELA-AU 6 47562710 47562710 single base substitution A G intron_variant MELA-AU 6 47562724 47562724 single base substitution T G intron_variant MELA-AU 6 47562729 47562729 single base substitution C T intron_variant MELA-AU 6 47563393 47563393 single base substitution T A intron_variant MELA-AU 6 47564641 47564641 single base substitution G A intron_variant MELA-AU 6 47565491 47565492 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 47565607 47565607 single base substitution C T intron_variant MELA-AU 6 47565688 47565689 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 47565771 47565771 single base substitution C T intron_variant MELA-AU 6 47566083 47566083 single base substitution C T intron_variant MELA-AU 6 47566680 47566680 single base substitution A C intron_variant MELA-AU 6 47567402 47567402 single base substitution T C intron_variant MELA-AU 6 47567675 47567675 single base substitution C T intron_variant MELA-AU 6 47568196 47568196 single base substitution T C intron_variant MELA-AU 6 47568831 47568831 single base substitution C T intron_variant MELA-AU 6 47569043 47569043 single base substitution C T intron_variant MELA-AU 6 47569666 47569666 single base substitution C T intron_variant MELA-AU 6 47569766 47569766 single base substitution C T intron_variant MELA-AU 6 47570089 47570089 single base substitution C T intron_variant MELA-AU 6 47570539 47570539 single base substitution G A intron_variant MELA-AU 6 47572367 47572367 single base substitution C T intron_variant MELA-AU 6 47572367 47572367 single base substitution C T upstream_gene_variant MELA-AU 6 47574361 47574361 single base substitution C G intron_variant MELA-AU 6 47574361 47574361 single base substitution C G upstream_gene_variant MELA-AU 6 47575844 47575844 single base substitution C T intron_variant MELA-AU 6 47576100 47576100 insertion of <=200bp - AAT intron_variant MELA-AU 6 47576318 47576318 single base substitution C T intron_variant MELA-AU 6 47576688 47576688 single base substitution A T intron_variant MELA-AU 6 47576972 47576972 single base substitution C T exon_variant MELA-AU 6 47576972 47576972 single base substitution C T synonymous_variant S582S 1746C>T MELA-AU 6 47577210 47577210 single base substitution C T exon_variant MELA-AU 6 47577210 47577210 single base substitution C T intron_variant MELA-AU 6 47577636 47577636 single base substitution C T downstream_gene_variant MELA-AU 6 47577636 47577636 single base substitution C T intron_variant MELA-AU 6 47578192 47578192 single base substitution A G downstream_gene_variant MELA-AU 6 47578192 47578192 single base substitution A G intron_variant MELA-AU 6 47578449 47578450 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 47578449 47578450 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 47578709 47578709 single base substitution T G downstream_gene_variant MELA-AU 6 47578709 47578709 single base substitution T G intron_variant MELA-AU 6 47578711 47578711 single base substitution T A downstream_gene_variant MELA-AU 6 47578711 47578711 single base substitution T A intron_variant MELA-AU 6 47579123 47579123 single base substitution G A downstream_gene_variant MELA-AU 6 47579123 47579123 single base substitution G A intron_variant MELA-AU 6 47579157 47579157 insertion of <=200bp - AT downstream_gene_variant MELA-AU 6 47579157 47579157 insertion of <=200bp - AT intron_variant MELA-AU 6 47579220 47579220 single base substitution T C downstream_gene_variant MELA-AU 6 47579220 47579220 single base substitution T C intron_variant MELA-AU 6 47579231 47579231 single base substitution G A downstream_gene_variant MELA-AU 6 47579231 47579231 single base substitution G A intron_variant MELA-AU 6 47579986 47579986 single base substitution T C downstream_gene_variant MELA-AU 6 47579986 47579986 single base substitution T C intron_variant MELA-AU 6 47580610 47580610 single base substitution T A downstream_gene_variant MELA-AU 6 47580610 47580610 single base substitution T A intron_variant MELA-AU 6 47580968 47580968 single base substitution C T downstream_gene_variant MELA-AU 6 47580968 47580968 single base substitution C T intron_variant MELA-AU 6 47581253 47581253 single base substitution T C downstream_gene_variant MELA-AU 6 47581253 47581253 single base substitution T C intron_variant MELA-AU 6 47581274 47581274 single base substitution C T downstream_gene_variant MELA-AU 6 47581274 47581274 single base substitution C T intron_variant MELA-AU 6 47581396 47581396 single base substitution A G downstream_gene_variant MELA-AU 6 47581396 47581396 single base substitution A G intron_variant MELA-AU 6 47582025 47582025 single base substitution T C downstream_gene_variant MELA-AU 6 47582025 47582025 single base substitution T C intron_variant MELA-AU 6 47583461 47583461 single base substitution C G intron_variant MELA-AU 6 47583512 47583512 single base substitution A T intron_variant MELA-AU 6 47583517 47583517 single base substitution T C intron_variant MELA-AU 6 47583920 47583920 single base substitution C T intron_variant MELA-AU 6 47584019 47584019 single base substitution G A intron_variant MELA-AU 6 47584599 47584599 single base substitution C T intron_variant MELA-AU 6 47584864 47584864 single base substitution T G intron_variant MELA-AU 6 47585145 47585145 single base substitution C T intron_variant MELA-AU 6 47585274 47585274 single base substitution T G intron_variant MELA-AU 6 47585726 47585726 single base substitution C T intron_variant MELA-AU 6 47586197 47586197 single base substitution C T intron_variant MELA-AU 6 47586951 47586951 single base substitution C T intron_variant MELA-AU 6 47587128 47587128 single base substitution T G intron_variant MELA-AU 6 47587306 47587306 single base substitution C T intron_variant MELA-AU 6 47587382 47587382 single base substitution T A intron_variant MELA-AU 6 47587424 47587424 single base substitution A C intron_variant MELA-AU 6 47587480 47587480 single base substitution T A intron_variant MELA-AU 6 47587792 47587792 single base substitution G C intron_variant MELA-AU 6 47587799 47587799 deletion of <=200bp A - intron_variant MELA-AU 6 47588241 47588241 single base substitution C T intron_variant MELA-AU 6 47588477 47588477 single base substitution C T intron_variant MELA-AU 6 47588635 47588635 single base substitution C T intron_variant MELA-AU 6 47588644 47588644 single base substitution C T intron_variant MELA-AU 6 47588952 47588952 single base substitution C T intron_variant MELA-AU 6 47589113 47589113 single base substitution A C intron_variant MELA-AU 6 47589115 47589115 single base substitution C T intron_variant MELA-AU 6 47589240 47589240 single base substitution C T intron_variant MELA-AU 6 47589572 47589572 single base substitution T G intron_variant MELA-AU 6 47589641 47589641 single base substitution C T intron_variant MELA-AU 6 47589953 47589953 single base substitution C T intron_variant MELA-AU 6 47589992 47589992 single base substitution C T intron_variant MELA-AU 6 47590138 47590138 single base substitution C T intron_variant MELA-AU 6 47590308 47590308 single base substitution C T intron_variant MELA-AU 6 47591037 47591037 single base substitution C T intron_variant MELA-AU 6 47591234 47591234 single base substitution C T intron_variant MELA-AU 6 47591273 47591273 single base substitution G A intron_variant MELA-AU 6 47591463 47591463 single base substitution C T intron_variant MELA-AU 6 47591597 47591597 single base substitution T C intron_variant MELA-AU 6 47591886 47591886 single base substitution A G intron_variant MELA-AU 6 47592125 47592125 single base substitution A G 3_prime_UTR_variant MELA-AU 6 47592795 47592795 single base substitution C T 3_prime_UTR_variant MELA-AU 6 47593044 47593044 single base substitution C T 3_prime_UTR_variant MELA-AU 6 47593422 47593422 single base substitution C T 3_prime_UTR_variant MELA-AU 6 47593857 47593857 single base substitution C T 3_prime_UTR_variant MELA-AU 6 47594016 47594016 single base substitution C T 3_prime_UTR_variant MELA-AU 6 47594314 47594314 single base substitution C T 3_prime_UTR_variant MELA-AU 6 47595084 47595084 single base substitution T A downstream_gene_variant MELA-AU 6 47596408 47596408 single base substitution G A downstream_gene_variant MELA-AU 6 47596595 47596612 deletion of <=200bp TTTGTTTTTGATACTGGG - downstream_gene_variant MELA-AU 6 47596854 47596854 single base substitution C T downstream_gene_variant MELA-AU 6 47597096 47597096 single base substitution A G downstream_gene_variant MELA-AU 6 47597162 47597162 single base substitution C T downstream_gene_variant MELA-AU 6 47597281 47597281 single base substitution C G downstream_gene_variant MELA-AU 6 47597393 47597393 single base substitution C T downstream_gene_variant MELA-AU 6 47597647 47597647 single base substitution A T downstream_gene_variant MELA-AU 6 47597969 47597969 single base substitution C T downstream_gene_variant MELA-AU 6 47598562 47598562 single base substitution C T downstream_gene_variant MELA-AU 6 47598590 47598590 single base substitution G A downstream_gene_variant MELA-AU 6 47599014 47599014 insertion of <=200bp - T downstream_gene_variant MELA-AU 6 47599998 47599998 single base substitution C T downstream_gene_variant ORCA-IN 6 47508974 47508974 single base substitution C T intron_variant ORCA-IN 6 47534065 47534065 single base substitution T C intron_variant ORCA-IN 6 47583564 47583564 single base substitution T A intron_variant ORCA-IN 6 47587335 47587335 single base substitution G A intron_variant ORCA-IN 6 47592227 47592227 single base substitution G A 3_prime_UTR_variant OV-AU 6 47441373 47441373 single base substitution A G upstream_gene_variant OV-AU 6 47442475 47442475 single base substitution A T upstream_gene_variant OV-AU 6 47451804 47451804 single base substitution A T intron_variant OV-AU 6 47458616 47458616 single base substitution C A intron_variant OV-AU 6 47471150 47471150 single base substitution G A missense_variant G47R 139G>A OV-AU 6 47478328 47478328 single base substitution G C intron_variant OV-AU 6 47485608 47485608 single base substitution A G intron_variant OV-AU 6 47496057 47496057 single base substitution T A intron_variant OV-AU 6 47499604 47499604 single base substitution T G intron_variant OV-AU 6 47499604 47499604 single base substitution T G upstream_gene_variant OV-AU 6 47508126 47508126 single base substitution T G intron_variant OV-AU 6 47512593 47512593 single base substitution T A exon_variant OV-AU 6 47512593 47512593 single base substitution T A intron_variant OV-AU 6 47529114 47529114 single base substitution C G intron_variant OV-AU 6 47530208 47530208 single base substitution T C intron_variant OV-AU 6 47535707 47535707 single base substitution G C intron_variant OV-AU 6 47539239 47539239 single base substitution G T intron_variant OV-AU 6 47540915 47540915 single base substitution T G intron_variant OV-AU 6 47540915 47540915 single base substitution T G upstream_gene_variant OV-AU 6 47545378 47545378 single base substitution G T intron_variant OV-AU 6 47545378 47545378 single base substitution G T upstream_gene_variant OV-AU 6 47545380 47545380 single base substitution G T intron_variant OV-AU 6 47545380 47545380 single base substitution G T upstream_gene_variant OV-AU 6 47545382 47545382 single base substitution G T intron_variant OV-AU 6 47545382 47545382 single base substitution G T upstream_gene_variant OV-AU 6 47550846 47550846 single base substitution T C downstream_gene_variant OV-AU 6 47550846 47550846 single base substitution T C intron_variant OV-AU 6 47550995 47550995 single base substitution T C downstream_gene_variant OV-AU 6 47550995 47550995 single base substitution T C intron_variant OV-AU 6 47551868 47551868 single base substitution T A downstream_gene_variant OV-AU 6 47551868 47551868 single base substitution T A intron_variant OV-AU 6 47562998 47562998 single base substitution C T intron_variant OV-AU 6 47576585 47576585 single base substitution C G intron_variant OV-AU 6 47577200 47577200 single base substitution T G exon_variant OV-AU 6 47577200 47577200 single base substitution T G intron_variant OV-AU 6 47579304 47579304 single base substitution T A downstream_gene_variant OV-AU 6 47579304 47579304 single base substitution T A intron_variant OV-AU 6 47588502 47588502 single base substitution G T intron_variant OV-AU 6 47594727 47594727 single base substitution G T 3_prime_UTR_variant OV-AU 6 47594728 47594728 single base substitution C T 3_prime_UTR_variant OV-AU 6 47598333 47598333 single base substitution G T downstream_gene_variant OV-AU 6 47599318 47599318 single base substitution A T downstream_gene_variant OV-US 6 47573993 47573993 single base substitution C T missense_variant R504C 1510C>T OV-US 6 47573993 47573993 single base substitution C T upstream_gene_variant PACA-AU 6 47440745 47440745 deletion of <=200bp T - upstream_gene_variant PACA-AU 6 47442112 47442112 single base substitution G C upstream_gene_variant PACA-AU 6 47447134 47447134 single base substitution T C intron_variant PACA-AU 6 47449187 47449187 single base substitution T A intron_variant PACA-AU 6 47473238 47473238 single base substitution G A intron_variant PACA-AU 6 47473306 47473306 single base substitution G C intron_variant PACA-AU 6 47489392 47489392 single base substitution G A intron_variant PACA-AU 6 47492346 47492346 insertion of <=200bp - G intron_variant PACA-AU 6 47501810 47501810 single base substitution G A intron_variant PACA-AU 6 47502632 47502632 single base substitution G A intron_variant PACA-AU 6 47504089 47504089 single base substitution T G intron_variant PACA-AU 6 47511766 47511766 single base substitution A G intron_variant PACA-AU 6 47512554 47512554 single base substitution A T exon_variant PACA-AU 6 47512554 47512554 single base substitution A T intron_variant PACA-AU 6 47513846 47513846 single base substitution T C downstream_gene_variant PACA-AU 6 47513846 47513846 single base substitution T C intron_variant PACA-AU 6 47522668 47522668 single base substitution A G intron_variant PACA-AU 6 47525398 47525398 single base substitution T A intron_variant PACA-AU 6 47526975 47526975 single base substitution G A intron_variant PACA-AU 6 47529199 47529199 single base substitution C G intron_variant PACA-AU 6 47529834 47529834 single base substitution C A intron_variant PACA-AU 6 47536602 47536602 single base substitution G A intron_variant PACA-AU 6 47536913 47536913 insertion of <=200bp - AAAAAGGAAAAGTA intron_variant PACA-AU 6 47537762 47537762 single base substitution C T intron_variant PACA-AU 6 47540789 47540789 single base substitution G T intron_variant PACA-AU 6 47540789 47540789 single base substitution G T upstream_gene_variant PACA-AU 6 47541725 47541725 single base substitution T A intron_variant PACA-AU 6 47541725 47541725 single base substitution T A upstream_gene_variant PACA-AU 6 47546273 47546273 single base substitution G C intron_variant PACA-AU 6 47546273 47546273 single base substitution G C upstream_gene_variant PACA-AU 6 47548852 47548878 deletion of <=200bp ACTTTATATGTAATTTTGAGTTAATAA - downstream_gene_variant PACA-AU 6 47548852 47548878 deletion of <=200bp ACTTTATATGTAATTTTGAGTTAATAA - intron_variant PACA-AU 6 47548853 47548853 single base substitution C A downstream_gene_variant PACA-AU 6 47548853 47548853 single base substitution C A intron_variant PACA-AU 6 47552767 47552767 single base substitution C G downstream_gene_variant PACA-AU 6 47552767 47552767 single base substitution C G intron_variant PACA-AU 6 47555118 47555118 single base substitution C T intron_variant PACA-AU 6 47567752 47567752 single base substitution C T intron_variant PACA-AU 6 47573769 47573769 single base substitution G C intron_variant PACA-AU 6 47573769 47573769 single base substitution G C upstream_gene_variant PACA-AU 6 47574534 47574534 insertion of <=200bp - T intron_variant PACA-AU 6 47574534 47574534 insertion of <=200bp - T upstream_gene_variant PACA-AU 6 47577148 47577148 single base substitution C T exon_variant PACA-AU 6 47577148 47577148 single base substitution C T intron_variant PACA-AU 6 47583544 47583544 single base substitution T C intron_variant PACA-AU 6 47583548 47583548 single base substitution T C intron_variant PACA-AU 6 47584603 47584603 deletion of <=200bp T - intron_variant PACA-AU 6 47586051 47586051 single base substitution C G intron_variant PACA-CA 6 47442980 47442980 single base substitution T A upstream_gene_variant PACA-CA 6 47444668 47444668 single base substitution G A upstream_gene_variant PACA-CA 6 47446326 47446326 single base substitution C T intron_variant PACA-CA 6 47447524 47447524 single base substitution A G intron_variant PACA-CA 6 47452426 47452426 single base substitution C G intron_variant PACA-CA 6 47452544 47452544 single base substitution C T intron_variant PACA-CA 6 47456241 47456241 single base substitution T C intron_variant PACA-CA 6 47456288 47456288 single base substitution G T intron_variant PACA-CA 6 47464062 47464062 single base substitution C T intron_variant PACA-CA 6 47466123 47466123 single base substitution T C intron_variant PACA-CA 6 47466250 47466250 insertion of <=200bp - T intron_variant PACA-CA 6 47466560 47466560 single base substitution A G intron_variant PACA-CA 6 47470563 47470563 single base substitution C T intron_variant PACA-CA 6 47471702 47471702 single base substitution T C intron_variant PACA-CA 6 47476692 47476692 insertion of <=200bp - G intron_variant PACA-CA 6 47478476 47478476 single base substitution C G intron_variant PACA-CA 6 47482941 47482941 single base substitution G C intron_variant PACA-CA 6 47483865 47483865 single base substitution G A intron_variant PACA-CA 6 47484876 47484876 single base substitution T G intron_variant PACA-CA 6 47485516 47485516 single base substitution T C intron_variant PACA-CA 6 47488886 47488886 single base substitution G C intron_variant PACA-CA 6 47491474 47491474 insertion of <=200bp - G intron_variant PACA-CA 6 47495978 47495978 single base substitution T G intron_variant PACA-CA 6 47504289 47504289 single base substitution A G intron_variant PACA-CA 6 47510304 47510304 insertion of <=200bp - T intron_variant PACA-CA 6 47511746 47511746 single base substitution T C intron_variant PACA-CA 6 47511950 47511973 deletion of <=200bp TTTAAGTAGTATTCCCAGACTTGA - intron_variant PACA-CA 6 47512638 47512638 single base substitution C T exon_variant PACA-CA 6 47512638 47512638 single base substitution C T intron_variant PACA-CA 6 47513050 47513050 single base substitution C G downstream_gene_variant PACA-CA 6 47513050 47513050 single base substitution C G intron_variant PACA-CA 6 47519824 47519824 single base substitution C A intron_variant PACA-CA 6 47520173 47520173 single base substitution G A intron_variant PACA-CA 6 47520842 47520842 single base substitution T A intron_variant PACA-CA 6 47521101 47521101 single base substitution G T intron_variant PACA-CA 6 47521906 47521906 single base substitution C T intron_variant PACA-CA 6 47523000 47523000 single base substitution C G intron_variant PACA-CA 6 47524864 47524864 single base substitution G A intron_variant PACA-CA 6 47525221 47525221 single base substitution C T intron_variant PACA-CA 6 47526955 47526955 single base substitution C G intron_variant PACA-CA 6 47527195 47527195 single base substitution A G intron_variant PACA-CA 6 47527599 47527599 single base substitution C G intron_variant PACA-CA 6 47527798 47527798 single base substitution C G intron_variant PACA-CA 6 47529743 47529743 single base substitution G A intron_variant PACA-CA 6 47530639 47530639 single base substitution T C intron_variant PACA-CA 6 47531546 47531546 single base substitution A C intron_variant PACA-CA 6 47539823 47539823 single base substitution A G intron_variant PACA-CA 6 47539823 47539823 single base substitution A G upstream_gene_variant PACA-CA 6 47541104 47541104 single base substitution T G intron_variant PACA-CA 6 47541104 47541104 single base substitution T G upstream_gene_variant PACA-CA 6 47544595 47544595 single base substitution C T intron_variant PACA-CA 6 47544595 47544595 single base substitution C T upstream_gene_variant PACA-CA 6 47545940 47545940 single base substitution G C intron_variant PACA-CA 6 47545940 47545940 single base substitution G C upstream_gene_variant PACA-CA 6 47546322 47546322 single base substitution G A intron_variant PACA-CA 6 47546322 47546322 single base substitution G A upstream_gene_variant PACA-CA 6 47549725 47549725 insertion of <=200bp - T downstream_gene_variant PACA-CA 6 47549725 47549725 insertion of <=200bp - T intron_variant PACA-CA 6 47550583 47550583 single base substitution A G downstream_gene_variant PACA-CA 6 47550583 47550583 single base substitution A G intron_variant PACA-CA 6 47551511 47551511 single base substitution A G downstream_gene_variant PACA-CA 6 47551511 47551511 single base substitution A G intron_variant PACA-CA 6 47557279 47557279 insertion of <=200bp - AT intron_variant PACA-CA 6 47561282 47561282 single base substitution C A intron_variant PACA-CA 6 47565472 47565472 single base substitution A C intron_variant PACA-CA 6 47572724 47572731 deletion of <=200bp CCTCCATC - intron_variant PACA-CA 6 47572724 47572731 deletion of <=200bp CCTCCATC - upstream_gene_variant PACA-CA 6 47578338 47578338 single base substitution G A downstream_gene_variant PACA-CA 6 47578338 47578338 single base substitution G A intron_variant PACA-CA 6 47580869 47580869 single base substitution C T downstream_gene_variant PACA-CA 6 47580869 47580869 single base substitution C T intron_variant PACA-CA 6 47586868 47586868 single base substitution G T intron_variant PACA-CA 6 47590385 47590385 single base substitution C A intron_variant PACA-CA 6 47593828 47593828 single base substitution T G 3_prime_UTR_variant PACA-CA 6 47594758 47594758 single base substitution A C 3_prime_UTR_variant PAEN-AU 6 47464594 47464594 single base substitution T A intron_variant PAEN-AU 6 47525513 47525513 single base substitution C T intron_variant PAEN-AU 6 47530343 47530343 single base substitution C G intron_variant PAEN-AU 6 47574840 47574840 single base substitution C G intron_variant PAEN-AU 6 47574840 47574840 single base substitution C G upstream_gene_variant PAEN-AU 6 47583522 47583522 single base substitution T C intron_variant PAEN-IT 6 47517806 47517806 single base substitution C G downstream_gene_variant PAEN-IT 6 47517806 47517806 single base substitution C G intron_variant PAEN-IT 6 47572720 47572720 single base substitution G T intron_variant PAEN-IT 6 47572720 47572720 single base substitution G T upstream_gene_variant PBCA-DE 6 47441149 47441149 single base substitution G A upstream_gene_variant PBCA-DE 6 47441870 47441870 single base substitution G A upstream_gene_variant PBCA-DE 6 47446440 47446440 single base substitution G T intron_variant PBCA-DE 6 47455542 47455542 single base substitution T A intron_variant PBCA-DE 6 47455543 47455543 single base substitution G T intron_variant PBCA-DE 6 47458205 47458205 single base substitution T A intron_variant PBCA-DE 6 47459136 47459136 single base substitution A G intron_variant PBCA-DE 6 47467710 47467710 single base substitution C T intron_variant PBCA-DE 6 47471670 47471670 single base substitution C T intron_variant PBCA-DE 6 47472886 47472886 insertion of <=200bp - TG intron_variant PBCA-DE 6 47479580 47479580 single base substitution C T intron_variant PBCA-DE 6 47481620 47481620 single base substitution T A intron_variant PBCA-DE 6 47495622 47495622 single base substitution A G intron_variant PBCA-DE 6 47496754 47496754 single base substitution G C intron_variant PBCA-DE 6 47496754 47496754 single base substitution G C upstream_gene_variant PBCA-DE 6 47498551 47498551 single base substitution T A intron_variant PBCA-DE 6 47498551 47498551 single base substitution T A upstream_gene_variant PBCA-DE 6 47508298 47508298 insertion of <=200bp - T intron_variant PBCA-DE 6 47512067 47512067 single base substitution T C intron_variant PBCA-DE 6 47519886 47519886 single base substitution A T intron_variant PBCA-DE 6 47527056 47527056 single base substitution C G intron_variant PBCA-DE 6 47530172 47530172 single base substitution A C intron_variant PBCA-DE 6 47530177 47530177 single base substitution G A intron_variant PBCA-DE 6 47534821 47534821 insertion of <=200bp - T intron_variant PBCA-DE 6 47536756 47536756 single base substitution G T intron_variant PBCA-DE 6 47592920 47592920 deletion of <=200bp T - 3_prime_UTR_variant PBCA-DE 6 47593969 47593969 single base substitution C T 3_prime_UTR_variant PBCA-DE 6 47594722 47594722 single base substitution G A 3_prime_UTR_variant PBCA-DE 6 47598690 47598690 single base substitution C A downstream_gene_variant PRAD-CA 6 47445027 47445027 single base substitution G A upstream_gene_variant PRAD-CA 6 47452102 47452102 single base substitution G T intron_variant PRAD-CA 6 47457864 47457864 single base substitution T G intron_variant PRAD-CA 6 47476281 47476281 single base substitution T G intron_variant PRAD-CA 6 47480168 47480168 single base substitution C T intron_variant PRAD-CA 6 47480896 47480896 single base substitution C T intron_variant PRAD-CA 6 47502243 47502243 single base substitution G C intron_variant PRAD-CA 6 47503611 47503611 single base substitution A G intron_variant PRAD-CA 6 47514458 47514458 single base substitution T C downstream_gene_variant PRAD-CA 6 47514458 47514458 single base substitution T C intron_variant PRAD-CA 6 47518606 47518606 single base substitution A G intron_variant PRAD-CA 6 47530717 47530717 single base substitution C G intron_variant PRAD-CA 6 47552557 47552557 single base substitution T G downstream_gene_variant PRAD-CA 6 47552557 47552557 single base substitution T G intron_variant PRAD-UK 6 47453520 47453520 insertion of <=200bp - T intron_variant PRAD-UK 6 47468736 47468736 single base substitution G A intron_variant PRAD-UK 6 47474531 47474548 deletion of <=200bp GAGGGAGAGGGAGAGGGA - intron_variant PRAD-UK 6 47494975 47494975 single base substitution T G intron_variant PRAD-UK 6 47515171 47515171 single base substitution G A downstream_gene_variant PRAD-UK 6 47515171 47515171 single base substitution G A intron_variant PRAD-UK 6 47541818 47541818 single base substitution C T missense_variant P187L 560C>T PRAD-UK 6 47541818 47541818 single base substitution C T upstream_gene_variant PRAD-UK 6 47552691 47552691 single base substitution G A downstream_gene_variant PRAD-UK 6 47552691 47552691 single base substitution G A intron_variant PRAD-UK 6 47553740 47553740 single base substitution G A downstream_gene_variant PRAD-UK 6 47553740 47553740 single base substitution G A intron_variant PRAD-UK 6 47559251 47559251 single base substitution T G intron_variant PRAD-UK 6 47596791 47596791 single base substitution C G downstream_gene_variant READ-US 6 47548599 47548599 single base substitution G T downstream_gene_variant READ-US 6 47548599 47548599 single base substitution G T splice_acceptor_variant RECA-EU 6 47456341 47456341 single base substitution C T intron_variant RECA-EU 6 47465073 47465073 single base substitution C T intron_variant RECA-EU 6 47465078 47465078 single base substitution C T intron_variant RECA-EU 6 47465085 47465085 single base substitution C T intron_variant RECA-EU 6 47466085 47466085 single base substitution T G intron_variant RECA-EU 6 47476281 47476281 single base substitution T G intron_variant RECA-EU 6 47476386 47476386 single base substitution A C intron_variant RECA-EU 6 47482079 47482079 single base substitution A G intron_variant RECA-EU 6 47484592 47484592 single base substitution G A intron_variant RECA-EU 6 47491546 47491546 single base substitution A C intron_variant RECA-EU 6 47494637 47494637 single base substitution A T intron_variant RECA-EU 6 47502443 47502443 single base substitution A G intron_variant RECA-EU 6 47512165 47512165 single base substitution G A intron_variant RECA-EU 6 47514967 47514967 single base substitution G T downstream_gene_variant RECA-EU 6 47514967 47514967 single base substitution G T intron_variant RECA-EU 6 47519634 47519634 single base substitution A G intron_variant RECA-EU 6 47526943 47526943 single base substitution C T intron_variant RECA-EU 6 47532740 47532740 single base substitution A T intron_variant RECA-EU 6 47537803 47537803 single base substitution A G intron_variant RECA-EU 6 47542676 47542676 single base substitution T C intron_variant RECA-EU 6 47542676 47542676 single base substitution T C upstream_gene_variant RECA-EU 6 47548719 47548719 single base substitution A G downstream_gene_variant RECA-EU 6 47548719 47548719 single base substitution A G intron_variant RECA-EU 6 47551564 47551564 single base substitution G A downstream_gene_variant RECA-EU 6 47551564 47551564 single base substitution G A intron_variant RECA-EU 6 47563597 47563597 single base substitution A G missense_variant D370G 1109A>G RECA-EU 6 47566268 47566268 single base substitution A G intron_variant RECA-EU 6 47572624 47572624 single base substitution C A intron_variant RECA-EU 6 47572624 47572624 single base substitution C A upstream_gene_variant RECA-EU 6 47577035 47577035 single base substitution T C exon_variant RECA-EU 6 47577035 47577035 single base substitution T C synonymous_variant D603D 1809T>C RECA-EU 6 47580679 47580679 single base substitution A G downstream_gene_variant RECA-EU 6 47580679 47580679 single base substitution A G intron_variant RECA-EU 6 47587168 47587168 single base substitution A G intron_variant RECA-EU 6 47592605 47592605 single base substitution A G 3_prime_UTR_variant RECA-EU 6 47597086 47597086 single base substitution T A downstream_gene_variant SKCA-BR 6 47441148 47441148 single base substitution C T upstream_gene_variant SKCA-BR 6 47445663 47445663 single base substitution T C 5_prime_UTR_variant SKCA-BR 6 47447354 47447354 single base substitution G A intron_variant SKCA-BR 6 47448436 47448436 single base substitution C T intron_variant SKCA-BR 6 47452039 47452039 single base substitution C T intron_variant SKCA-BR 6 47455761 47455761 insertion of <=200bp - CT intron_variant SKCA-BR 6 47458485 47458485 single base substitution T C intron_variant SKCA-BR 6 47460117 47460117 single base substitution C T intron_variant SKCA-BR 6 47462461 47462461 single base substitution C T intron_variant SKCA-BR 6 47462538 47462538 single base substitution T A intron_variant SKCA-BR 6 47463802 47463802 single base substitution C T intron_variant SKCA-BR 6 47464334 47464334 single base substitution T C intron_variant SKCA-BR 6 47465047 47465047 single base substitution C A intron_variant SKCA-BR 6 47465057 47465057 insertion of <=200bp - CTTTCCTTTCA intron_variant SKCA-BR 6 47465067 47465067 single base substitution C A intron_variant SKCA-BR 6 47465073 47465073 single base substitution C T intron_variant SKCA-BR 6 47469502 47469502 single base substitution T C intron_variant SKCA-BR 6 47469919 47469919 single base substitution C T intron_variant SKCA-BR 6 47473206 47473206 single base substitution T C intron_variant SKCA-BR 6 47473316 47473316 single base substitution G A intron_variant SKCA-BR 6 47473553 47473553 single base substitution C T intron_variant SKCA-BR 6 47473637 47473637 single base substitution G A intron_variant SKCA-BR 6 47474352 47474352 single base substitution A G intron_variant SKCA-BR 6 47476236 47476236 single base substitution T G intron_variant SKCA-BR 6 47481611 47481611 insertion of <=200bp - TA intron_variant SKCA-BR 6 47481620 47481620 single base substitution T A intron_variant SKCA-BR 6 47483392 47483392 single base substitution C T intron_variant SKCA-BR 6 47484578 47484578 single base substitution C T intron_variant SKCA-BR 6 47487667 47487667 single base substitution G A intron_variant SKCA-BR 6 47490901 47490901 single base substitution T C intron_variant SKCA-BR 6 47498887 47498887 single base substitution C T intron_variant SKCA-BR 6 47498887 47498887 single base substitution C T upstream_gene_variant SKCA-BR 6 47499604 47499604 single base substitution T G intron_variant SKCA-BR 6 47499604 47499604 single base substitution T G upstream_gene_variant SKCA-BR 6 47503066 47503066 single base substitution C T intron_variant SKCA-BR 6 47507750 47507750 insertion of <=200bp - CA intron_variant SKCA-BR 6 47508033 47508033 single base substitution C T intron_variant SKCA-BR 6 47509296 47509296 single base substitution C T intron_variant SKCA-BR 6 47512849 47512849 single base substitution C T exon_variant SKCA-BR 6 47512849 47512849 single base substitution C T intron_variant SKCA-BR 6 47512969 47512969 single base substitution C T downstream_gene_variant SKCA-BR 6 47512969 47512969 single base substitution C T intron_variant SKCA-BR 6 47513291 47513291 single base substitution T G downstream_gene_variant SKCA-BR 6 47513291 47513291 single base substitution T G intron_variant SKCA-BR 6 47514104 47514104 single base substitution C T downstream_gene_variant SKCA-BR 6 47514104 47514104 single base substitution C T intron_variant SKCA-BR 6 47514541 47514541 single base substitution C T downstream_gene_variant SKCA-BR 6 47514541 47514541 single base substitution C T intron_variant SKCA-BR 6 47514906 47514906 single base substitution C T downstream_gene_variant SKCA-BR 6 47514906 47514906 single base substitution C T intron_variant SKCA-BR 6 47517156 47517156 single base substitution G A downstream_gene_variant SKCA-BR 6 47517156 47517156 single base substitution G A intron_variant SKCA-BR 6 47519209 47519209 single base substitution G A intron_variant SKCA-BR 6 47520425 47520425 single base substitution C G intron_variant SKCA-BR 6 47523381 47523381 single base substitution A G intron_variant SKCA-BR 6 47523456 47523456 single base substitution G A intron_variant SKCA-BR 6 47525177 47525177 single base substitution G A intron_variant SKCA-BR 6 47526993 47526993 insertion of <=200bp - AT intron_variant SKCA-BR 6 47530426 47530426 single base substitution G C intron_variant SKCA-BR 6 47531052 47531052 single base substitution G A intron_variant SKCA-BR 6 47532712 47532712 single base substitution C T intron_variant SKCA-BR 6 47534059 47534059 insertion of <=200bp - TATATATATATATATATATATAT intron_variant SKCA-BR 6 47534061 47534061 single base substitution C T intron_variant SKCA-BR 6 47534069 47534069 single base substitution C T intron_variant SKCA-BR 6 47534558 47534558 single base substitution C T intron_variant SKCA-BR 6 47536362 47536362 single base substitution C T intron_variant SKCA-BR 6 47540653 47540653 single base substitution T C intron_variant SKCA-BR 6 47540653 47540653 single base substitution T C upstream_gene_variant SKCA-BR 6 47545476 47545476 single base substitution C A intron_variant SKCA-BR 6 47545476 47545476 single base substitution C A upstream_gene_variant SKCA-BR 6 47547070 47547070 insertion of <=200bp - TAA intron_variant SKCA-BR 6 47547070 47547070 insertion of <=200bp - TAA upstream_gene_variant SKCA-BR 6 47548535 47548535 single base substitution G A downstream_gene_variant SKCA-BR 6 47548535 47548535 single base substitution G A intron_variant SKCA-BR 6 47549573 47549573 single base substitution T G downstream_gene_variant SKCA-BR 6 47549573 47549573 single base substitution T G intron_variant SKCA-BR 6 47553057 47553057 single base substitution G T downstream_gene_variant SKCA-BR 6 47553057 47553057 single base substitution G T intron_variant SKCA-BR 6 47553532 47553532 single base substitution C T downstream_gene_variant SKCA-BR 6 47553532 47553532 single base substitution C T intron_variant SKCA-BR 6 47557115 47557115 insertion of <=200bp - TATACACACACACACA intron_variant SKCA-BR 6 47557117 47557117 single base substitution C T intron_variant SKCA-BR 6 47557287 47557287 insertion of <=200bp - TACAC intron_variant SKCA-BR 6 47557301 47557301 insertion of <=200bp - CACATATATATATATATATAT intron_variant SKCA-BR 6 47559627 47559627 single base substitution C T intron_variant SKCA-BR 6 47559967 47559967 single base substitution A G intron_variant SKCA-BR 6 47567875 47567875 single base substitution C T intron_variant SKCA-BR 6 47568236 47568236 single base substitution C T intron_variant SKCA-BR 6 47569327 47569327 single base substitution C T intron_variant SKCA-BR 6 47573979 47573979 single base substitution G A missense_variant R499K 1496G>A SKCA-BR 6 47573979 47573979 single base substitution G A upstream_gene_variant SKCA-BR 6 47574679 47574679 single base substitution T C intron_variant SKCA-BR 6 47574679 47574679 single base substitution T C upstream_gene_variant SKCA-BR 6 47575276 47575276 single base substitution C T intron_variant SKCA-BR 6 47575276 47575276 single base substitution C T upstream_gene_variant SKCA-BR 6 47576593 47576593 single base substitution C T intron_variant SKCA-BR 6 47577249 47577249 insertion of <=200bp - CAAA exon_variant SKCA-BR 6 47577249 47577249 insertion of <=200bp - CAAA intron_variant SKCA-BR 6 47578709 47578709 single base substitution T A downstream_gene_variant SKCA-BR 6 47578709 47578709 single base substitution T A intron_variant SKCA-BR 6 47582614 47582614 single base substitution C T intron_variant SKCA-BR 6 47582999 47582999 single base substitution A G intron_variant SKCA-BR 6 47583754 47583754 single base substitution T C intron_variant SKCA-BR 6 47590138 47590138 single base substitution C T intron_variant SKCA-BR 6 47590701 47590701 single base substitution C T intron_variant SKCA-BR 6 47594475 47594475 single base substitution C T 3_prime_UTR_variant SKCA-BR 6 47597189 47597189 single base substitution G A downstream_gene_variant SKCA-BR 6 47598094 47598094 single base substitution C T downstream_gene_variant SKCM-US 6 47501378 47501378 single base substitution C T missense_variant P69L 206C>T SKCM-US 6 47501378 47501378 single base substitution C T upstream_gene_variant SKCM-US 6 47501479 47501479 single base substitution A T exon_variant SKCM-US 6 47501479 47501479 single base substitution A T missense_variant N103Y 307A>T SKCM-US 6 47541892 47541892 single base substitution C T stop_gained R212* 634C>T SKCM-US 6 47541892 47541892 single base substitution C T upstream_gene_variant SKCM-US 6 47541893 47541893 single base substitution G A missense_variant R212Q 635G>A SKCM-US 6 47541893 47541893 single base substitution G A upstream_gene_variant SKCM-US 6 47544322 47544322 single base substitution C A exon_variant SKCM-US 6 47544322 47544322 single base substitution C A synonymous_variant T264T 792C>A SKCM-US 6 47544322 47544322 single base substitution C A upstream_gene_variant SKCM-US 6 47544323 47544323 single base substitution G A exon_variant SKCM-US 6 47544323 47544323 single base substitution G A missense_variant E265K 793G>A SKCM-US 6 47544323 47544323 single base substitution G A upstream_gene_variant SKCM-US 6 47547126 47547126 single base substitution T C exon_variant SKCM-US 6 47547126 47547126 single base substitution T C synonymous_variant T303T 909T>C SKCM-US 6 47547126 47547126 single base substitution T C upstream_gene_variant SKCM-US 6 47547151 47547151 single base substitution G A exon_variant SKCM-US 6 47547151 47547151 single base substitution G A missense_variant E312K 934G>A SKCM-US 6 47563623 47563623 single base substitution C T missense_variant P379S 1135C>T SKCM-US 6 47563740 47563740 single base substitution C T missense_variant P418S 1252C>T SKCM-US 6 47575686 47575686 single base substitution C T exon_variant SKCM-US 6 47575686 47575686 single base substitution C T synonymous_variant I518I 1554C>T SKCM-US 6 47576922 47576922 single base substitution C T exon_variant SKCM-US 6 47576922 47576922 single base substitution C T missense_variant P566S 1696C>T SKCM-US 6 47576933 47576933 single base substitution C T exon_variant SKCM-US 6 47576933 47576933 single base substitution C T synonymous_variant I569I 1707C>T SKCM-US 6 47576971 47576971 single base substitution C T exon_variant SKCM-US 6 47576971 47576971 single base substitution C T missense_variant S582F 1745C>T SKCM-US 6 47576991 47576991 single base substitution C T exon_variant SKCM-US 6 47576991 47576991 single base substitution C T stop_gained Q589* 1765C>T STAD-US 6 47471062 47471062 single base substitution A G synonymous_variant E17E 51A>G STAD-US 6 47471097 47471097 single base substitution T C missense_variant V29A 86T>C STAD-US 6 47547178 47547178 single base substitution C T exon_variant STAD-US 6 47547178 47547178 single base substitution C T missense_variant P321S 961C>T STAD-US 6 47563667 47563667 single base substitution T C synonymous_variant T393T 1179T>C STAD-US 6 47575752 47575752 single base substitution C G exon_variant STAD-US 6 47575752 47575752 single base substitution C G missense_variant C540W 1620C>G THCA-SA 6 47592457 47592457 single base substitution G A 3_prime_UTR_variant UCEC-US 6 47471115 47471115 single base substitution A G missense_variant E35G 104A>G UCEC-US 6 47522496 47522496 single base substitution G A missense_variant D179N 535G>A UCEC-US 6 47544328 47544328 single base substitution T C exon_variant UCEC-US 6 47544328 47544328 single base substitution T C synonymous_variant G266G 798T>C UCEC-US 6 47544328 47544328 single base substitution T C upstream_gene_variant UCEC-US 6 47547151 47547151 single base substitution G A exon_variant UCEC-US 6 47547151 47547151 single base substitution G A missense_variant E312K 934G>A UCEC-US 6 47548614 47548614 single base substitution A G downstream_gene_variant UCEC-US 6 47548614 47548614 single base substitution A G exon_variant UCEC-US 6 47548614 47548614 single base substitution A G synonymous_variant P341P 1023A>G UCEC-US 6 47567068 47567068 single base substitution A C missense_variant K436Q 1306A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BS-A0UF-01 COSM1080000 c.1306A>C p.K436Q Substitution - Missense 6:47599332-47599332 + 12T COSM110165 c.272C>T p.P91L Substitution - Missense 6:47533708-47533708 + TCGA-EE-A2GT-06 COSM3628099 c.634C>T p.R212* Substitution - Nonsense 6:47574156-47574156 + LUAD-NYU160 COSM370581 c.1839A>T p.K613N Substitution - Missense 6:47612497-47612497 + LUAD-YINHD COSM351425 c.829T>C p.L277L Substitution - coding silent 6:47577029-47577029 + TCGA-D9-A6EC-06 COSM4403863 c.909T>C p.T303T Substitution - coding silent 6:47579390-47579390 + Single_liver_4 COSM5783249 c.560C>T p.P187L Substitution - Missense 6:47574082-47574082 + TCGA-CA-6717-01 COSM1444937 c.121G>T p.E41* Substitution - Nonsense 6:47503396-47503396 + C106 COSM4610833 c.676delA p.K226fs*20 Deletion - Frameshift 6:47574198-47574198 + TCGA-CA-6717-01 COSM279716 c.62G>A p.R21Q Substitution - Missense 6:47503337-47503337 + T3080 COSM1444939 c.1735delA p.N581fs*17 Deletion - Frameshift 6:47609225-47609225 + 2881_T COSM3949288 c.1628C>T p.P543L Substitution - Missense 6:47608024-47608024 + Multi_liver_13 COSM5783249 c.560C>T p.P187L Substitution - Missense 6:47574082-47574082 + TCGA-CG-4305-01 COSM3874583 c.1179T>C p.T393T Substitution - coding silent 6:47595931-47595931 + TCGA-AB-2839-03 COSM1319083 c.137G>T p.R46I Substitution - Missense 6:47503412-47503412 + TCGA-EB-A3XB-01 COSM3628100 c.635G>A p.R212Q Substitution - Missense 6:47574157-47574157 + BD98T COSM5520675 c.1142A>C p.K381T Substitution - Missense 6:47595894-47595894 + TCGA-AZ-4615-01 COSM5139793 c.1734_1735insA p.N581fs*5 Insertion - Frameshift 6:47609224-47609225 + TCGA-D1-A103-01 COSM1079998 c.798T>C p.G266G Substitution - coding silent 6:47576592-47576592 + 227_T COSM3949287 c.193G>C p.D65H Substitution - Missense 6:47533629-47533629 + TCGA-EE-A29D-06 COSM389567 c.934G>A p.E312K Substitution - Missense 6:47579415-47579415 + TCGA-14-1456-01 COSM2155628 c.961C>T p.P321S Substitution - Missense 6:47579442-47579442 + TCGA-FS-A1ZK-06 COSM3628109 c.1765C>T p.Q589* Substitution - Nonsense 6:47609255-47609255 + HCT-15 COSM1672473 c.703G>A p.E235K Substitution - Missense 6:47574225-47574225 + HCT15 COSM1672473 c.703G>A p.E235K Substitution - Missense 6:47574225-47574225 + NCI-H716 COSM3353467 c.503C>T p.T168I Substitution - Missense 6:47554728-47554728 + TCGA-BT-A20J-01 COSM421277 c.1745C>G p.S582C Substitution - Missense 6:47609235-47609235 + ccRCC-48 COSM1661054 c.152A>C p.D51A Substitution - Missense 6:47503427-47503427 + TCGA-BR-4257-01 COSM3874582 c.86T>C p.V29A Substitution - Missense 6:47503361-47503361 + TCGA-G4-6588-01 COSM1444938 c.1244A>G p.K415R Substitution - Missense 6:47595996-47595996 + ESCC_38 COSM5629169 c.1302A>T p.S434S Substitution - coding silent 6:47599328-47599328 + TCGA-AA-A010-01 COSM279718 c.420G>T p.E140D Substitution - Missense 6:47544706-47544706 + pfg068T COSM1444939 c.1735delA p.N581fs*17 Deletion - Frameshift 6:47609225-47609225 + CSCC-49-T COSM4526534 c.1400G>A p.R467K Substitution - Missense 6:47599426-47599426 + ESCC_77 COSM5635383 c.204G>T p.L68F Substitution - Missense 6:47533640-47533640 + CHC1591T COSM4800389 c.1830A>G p.K610K Substitution - coding silent 6:47612488-47612488 + TCGA-IR-A3LA-01 COSM4844875 c.1810C>G p.H604D Substitution - Missense 6:47609300-47609300 + HCC2998 COSM3353495 c.1805A>C p.K602T Substitution - Missense 6:47609295-47609295 + TCGA-D3-A1Q4-06 COSM3628106 c.1696C>T p.P566S Substitution - Missense 6:47609186-47609186 + TCGA-A8-A0A6-01 COSM3830699 c.1260A>C p.P420P Substitution - coding silent 6:47596012-47596012 + T92 COSM239222 c.428_430delAAG p.E143delE Deletion - In frame 6:47554653-47554655 + TCGA-FD-A3SO-01 COSM3777724 c.853G>T p.E285* Substitution - Nonsense 6:47577053-47577053 + CSCC-31-T COSM4471877 c.1746C>T p.S582S Substitution - coding silent 6:47609236-47609236 + CSCC-41-T COSM4449184 c.1801_1803delAAA p.K602delK Deletion - In frame 6:47609291-47609293 + ESO-327 COSM1247691 c.1835G>A p.R612Q Substitution - Missense 6:47612493-47612493 + GBM_IV-19 COSM4966994 c.421-1G>T p.? Unknown 6:47554645-47554645 + LUAD_E00565 COSM389567 c.934G>A p.E312K Substitution - Missense 6:47579415-47579415 + TCGA-FR-A3R1-01 COSM3628103 c.1135C>T p.P379S Substitution - Missense 6:47595887-47595887 + CSCC-11-T COSM4505062 c.682C>T p.R228W Substitution - Missense 6:47574204-47574204 + TCGA-B5-A11E-01 COSM1079996 c.104A>G p.E35G Substitution - Missense 6:47503379-47503379 + sysucc-880T COSM5463566 c.531G>A p.Q177Q Substitution - coding silent 6:47554756-47554756 + KM12 COSM3353490 c.1605delA p.D538fs*27 Deletion - Frameshift 6:47608001-47608001 + S01873 COSM3353474 c.792C>T p.T264T Substitution - coding silent 6:47576586-47576586 + AOCS-144-1-3 COSM4153440 c.139G>A p.G47R Substitution - Missense 6:47503414-47503414 + 2 COSM4166627 c.619C>T p.Q207* Substitution - Nonsense 6:47574141-47574141 + C086 COSM5528361 c.611C>T p.S204L Substitution - Missense 6:47574133-47574133 + PM-3 COSM5619852 c.779C>A p.T260K Substitution - Missense 6:47576573-47576573 + TCGA-AN-A046-01 COSM3830698 c.159C>T p.F53F Substitution - coding silent 6:47503434-47503434 + TCGA-A8-A09Z-01 COSM3830700 c.1860A>G p.T620T Substitution - coding silent 6:47612518-47612518 + Left_rib COSM5783249 c.560C>T p.P187L Substitution - Missense 6:47574082-47574082 + ESCC_46 COSM5630601 c.879G>T p.G293G Substitution - coding silent 6:47577079-47577079 + TCGA-AA-3672-01 COSM266205 c.968A>T p.N323I Substitution - Missense 6:47579449-47579449 + TCGA-AA-A00N-01 COSM274444 c.885A>C p.I295I Substitution - coding silent 6:47577085-47577085 + TCGA-D9-A6EC-06 COSM4404619 c.307A>T p.N103Y Substitution - Missense 6:47533743-47533743 + S0029 COSM5884383 c.1096C>T p.P366S Substitution - Missense 6:47582053-47582053 + ccRCC-20 COSM1661055 c.1127A>G p.E376G Substitution - Missense 6:47595879-47595879 + CHC1591T COSM4800389 c.1830A>G p.K610K Substitution - coding silent 6:47612488-47612488 + PD9002a COSM5779332 c.1509C>A p.G503G Substitution - coding silent 6:47606256-47606256 + TCGA-AP-A056-01 COSM1079997 c.535G>A p.D179N Substitution - Missense 6:47554760-47554760 + TCGA-AX-A0J1-01 COSM1079999 c.1023A>G p.P341P Substitution - coding silent 6:47580878-47580878 + TCGA-BT-A3PJ-01 COSM3777726 c.1792G>C p.E598Q Substitution - Missense 6:47609282-47609282 + TCGA-G3-A3CI-01 COSM4939230 c.1633-1G>A p.? Unknown 6:47609122-47609122 + TCGA-AA-A010-01 COSM279716 c.62G>A p.R21Q Substitution - Missense 6:47503337-47503337 + HCC127T COSM5822713 c.5-2A>C p.? Unknown 6:47503278-47503278 + TCGA-CG-5724-01 COSM2155628 c.961C>T p.P321S Substitution - Missense 6:47579442-47579442 + TCGA-Q2-A5QZ-01 COSM3995031 c.104A>T p.E35V Substitution - Missense 6:47503379-47503379 + TCGA-BS-A0UV-01 COSM389567 c.934G>A p.E312K Substitution - Missense 6:47579415-47579415 + TCGA-C8-A1HM-01 COSM451597 c.671C>G p.S224C Substitution - Missense 6:47574193-47574193 + TCGA-14-1456 COSM2155628 c.961C>T p.P321S Substitution - Missense 6:47579442-47579442 + TCGA-AK-3425-01 COSM3366546 c.698G>C p.S233T Substitution - Missense 6:47574220-47574220 + TCGA-A8-A09Z-01 COSM5202443 c.997_998delAA p.K333fs*13 Deletion - Frameshift 6:47579478-47579479 + TCGA-AG-3882-01 COSM5068085 c.165+5G>T p.? Unknown 6:47503445-47503445 + HCC63T COSM1621737 c.251G>T p.R84L Substitution - Missense 6:47533687-47533687 + TCGA-AG-3583-01 COSM287883 c.534C>T p.D178D Substitution - coding silent 6:47554759-47554759 + CHOL01 COSM1742958 c.693A>T p.T231T Substitution - coding silent 6:47574215-47574215 + TCGA-13-1509-01 COSM74071 c.1510C>T p.R504C Substitution - Missense 6:47606257-47606257 + CSCC-41-T COSM4496333 c.472C>T p.P158S Substitution - Missense 6:47554697-47554697 + CSCC-60-T COSM3628106 c.1696C>T p.P566S Substitution - Missense 6:47609186-47609186 + TCGA-D3-A2JA-06 COSM3628107 c.1707C>T p.I569I Substitution - coding silent 6:47609197-47609197 + TCGA-DU-A5TS-01 COSM3928504 c.1632+1G>A p.? Unknown 6:47608029-47608029 + YUKSI COSM5405484 c.566C>T p.S189L Substitution - Missense 6:47574088-47574088 + TCGA-FD-A3SS-01 COSM3777725 c.1229C>G p.P410R Substitution - Missense 6:47595981-47595981 + LUAD-RT-S01831 COSM384485 c.1418-1G>C p.? Unknown 6:47606164-47606164 + Left_adrenal COSM5783249 c.560C>T p.P187L Substitution - Missense 6:47574082-47574082 + ESO09T COSM1173239 c.1819G>A p.E607K Substitution - Missense 6:47612477-47612477 + TCGA-EB-A44O-01 COSM3628104 c.1252C>T p.P418S Substitution - Missense 6:47596004-47596004 + YUOTHO COSM5405485 c.962C>T p.P321L Substitution - Missense 6:47579443-47579443 + S02287 COSM5685759 c.790A>T p.T264S Substitution - Missense 6:47576584-47576584 + LXFL529 COSM1197127 c.23A>G p.Y8C Substitution - Missense 6:47503298-47503298 + CAL33 COSM3353465 c.253A>G p.I85V Substitution - Missense 6:47533689-47533689 + YUMOBER COSM4496333 c.472C>T p.P158S Substitution - Missense 6:47554697-47554697 + TCGA-AA-3860-01 COSM295944 c.1153C>G p.P385A Substitution - Missense 6:47595905-47595905 + TCGA-EE-A181-06 COSM3628102 c.793G>A p.E265K Substitution - Missense 6:47576587-47576587 + LUAD-RT-S01477 COSM377691 c.1318G>C p.E440Q Substitution - Missense 6:47599344-47599344 + TCGA-D3-A3C8-06 COSM3628105 c.1554C>T p.I518I Substitution - coding silent 6:47607950-47607950 + RK085_C01 COSM3703019 c.700A>C p.S234R Substitution - Missense 6:47574222-47574222 + TCGA-BR-8369-01 COSM3874581 c.51A>G p.E17E Substitution - coding silent 6:47503326-47503326 + TCGA-FS-A1Z0-06 COSM3628098 c.206C>T p.P69L Substitution - Missense 6:47533642-47533642 + BD55T COSM5509392 c.1813G>A p.G605R Substitution - Missense 6:47609303-47609303 + HCC63 COSM1621737 c.251G>T p.R84L Substitution - Missense 6:47533687-47533687 + C0081T COSM4155242 c.1109A>G p.D370G Substitution - Missense 6:47595861-47595861 + PT16_1 COSM5898297 c.1046-7C>T p.? Unknown 6:47581996-47581996 + TCGA-EE-A2GR-06 COSM3628108 c.1745C>T p.S582F Substitution - Missense 6:47609235-47609235 + TCGA-CZ-5456-01 COSM484168 c.1309T>A p.F437I Substitution - Missense 6:47599335-47599335 + 631076 COSM324954 c.1810C>T p.H604Y Substitution - Missense 6:47609300-47609300 + C0014T COSM4155243 c.1809T>C p.D603D Substitution - coding silent 6:47609299-47609299 + TCGA-AA-A010-01 COSM279717 c.251G>A p.R84Q Substitution - Missense 6:47533687-47533687 + TCGA-14-4157-01 COSM3411154 c.381G>A p.L127L Substitution - coding silent 6:47544667-47544667 + TCGA-FD-A3SO-01 COSM3777723 c.772G>C p.E258Q Substitution - Missense 6:47576566-47576566 + LUAD-S01478 COSM400040 c.558G>T p.G186G Substitution - coding silent 6:47574080-47574080 + T3021 COSM1444939 c.1735delA p.N581fs*17 Deletion - Frameshift 6:47609225-47609225 + Single_liver_8 COSM5783249 c.560C>T p.P187L Substitution - Missense 6:47574082-47574082 + PT44 COSM5926537 c.637G>A p.G213R Substitution - Missense 6:47574159-47574159 + T3021 COSM3353489 c.1546G>A p.E516K Substitution - Missense 6:47607942-47607942 + RK136_C01 COSM3745271 c.166G>T p.E56* Substitution - Nonsense 6:47533602-47533602 + cSCCP7 COSM139648 c.973G>T p.A325S Substitution - Missense 6:47579454-47579454 + Pat_53_A COSM1444939 c.1735delA p.N581fs*17 Deletion - Frameshift 6:47609225-47609225 + TCGA-GN-A26C-01 COSM3628101 c.792C>A p.T264T Substitution - coding silent 6:47576586-47576586 + TCGA-GC-A3RC-01 COSM3777722 c.320-1G>A p.? Unknown 6:47544605-47544605 + T2269 COSM4670442 c.630A>C p.K210N Substitution - Missense 6:47574152-47574152 + GB18 COSM1742959 c.502A>G p.T168A Substitution - Missense 6:47554727-47554727 + TCGA-D3-A2JP-06 COSM3628108 c.1745C>T p.S582F Substitution - Missense 6:47609235-47609235 + BK0015 COSM4185874 c.221G>A p.R74K Substitution - Missense 6:47533657-47533657 + TCGA-EI-6917-01 COSM3430722 c.1009-1G>T p.? Unknown 6:47580863-47580863 + Single_liver_2 COSM5783249 c.560C>T p.P187L Substitution - Missense 6:47574082-47574082 + pfg108T COSM4754470 c.182C>A p.T61K Substitution - Missense 6:47533618-47533618 + TCGA-D7-A4YT-01 COSM3874584 c.1620C>G p.C540W Substitution - Missense 6:47608016-47608016 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.485518 6p12 604241

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.1917+501A>G 6 47592461 HC A G IntronicSNV . c.421-879A>G 6 47521503 CLL A G Missense p.Y4C c.11A>G 6 47471022 HNSC A T 3-UTRSNV . c.1917+958A>T 6 47592918 HC A T IntronicSNV . c.1417+42A>T 6 47567221 STAD C A Synonymous p.T264T c.792C>A 6 47544322 CM C G Missense p.P385A c.1153C>G 6 47563641 COREAD C G Missense p.S582C c.1745C>G 6 47576971 BLCA C T 3-UTRSNV . c.1917+2009C>T 6 47593969 MB C T 3-UTRSNV . c.1917+32C>T 6 47591992 CM C T IntronicSNV . c.541+8107C>T 6 47530609 CM C T Missense p.H604Y c.1810C>T 6 47577036 SCLC C T Missense p.P321S c.961C>T 6 47547178 GBM C T Missense p.P321S c.961C>T 6 47547178 STAD C T Missense p.P566S c.1696C>T 6 47576922 CM C T Missense p.P69L c.206C>T 6 47501378 CM C T Missense p.R504C c.1510C>T 6 47573993 OV C T Missense p.S404F c.1211C>T 6 47563699 HNSC C T Missense p.S582F c.1745C>T 6 47576971 CM C T Nonsense p.Q589* c.1765C>T 6 47576991 CM C T Nonsense p.R212* c.634C>T 6 47541892 CM C T Synonymous p.D178D c.534C>T 6 47522495 COREAD C T Synonymous p.I518I c.1554C>T 6 47575686 CM C T Synonymous p.I569I c.1707C>T 6 47576933 CM CTT - IntronicDeletion . c.1879-4624_1879-4622delCTT 6 47587295 CM G A Missense p.E265K c.793G>A 6 47544323 CM G A Missense p.E440K c.1318G>A 6 47567080 LUAD G A Missense p.G315S c.943G>A 6 47547160 HNSC G A Missense p.R612Q c.1835G>A 6 47580229 ESCA G A Missense p.V597I c.1789G>A 6 47577015 HNSC G A Synonymous p.L127L c.381G>A 6 47512403 GBM G A Synonymous p.Q377Q c.1131G>A 6 47563619 HNSC G C Missense p.E598Q c.1792G>C 6 47577018 BLCA G C Missense p.G293A c.878G>C 6 47544814 LUAD G C Missense p.S233T c.698G>C 6 47541956 RCCC GG AA Missense p.R228Q c.683_684delinsAA 6 47541941 CM T A Missense p.F437I c.1309T>A 6 47567071 RCCC T A Nonsense p.Y273* c.819T>A 6 47544755 CM T C Missense p.V29A c.86T>C 6 47471097 STAD T C Synonymous p.T393T c.1179T>C 6 47563667 STAD T G Missense p.L90R c.269T>G 6 47501441 HNSC - TTTCCTTTCA IntronicInsertion . c.5-5956_5-5955insTCCTTTCATT 6 47465058 CM