Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 4 89589214 89589214 + Missense_Mutation SNP A A T TCGA-OR-A5JX-01A-11D-A29I-10 TCGA-OR-A5JX-10B-01D-A29L-10 g.chr4:89589214A>T c.1615A>T c.(1615-1617)Aac>Tac p.N539Y ACC 4 89607931 89607931 + Missense_Mutation SNP A A C TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr4:89607931A>C c.2552A>C c.(2551-2553)gAg>gCg p.E851A BLCA 4 89589073 89589073 + Missense_Mutation SNP C C T TCGA-ZF-AA53-01A-11D-A391-08 TCGA-ZF-AA53-10A-01D-A394-08 g.chr4:89589073C>T c.1474C>T c.(1474-1476)Ccc>Tcc p.P492S BLCA 4 89591320 89591320 + Missense_Mutation SNP G G A TCGA-FD-A62N-01A-11D-A30E-08 TCGA-FD-A62N-10A-01D-A30H-08 g.chr4:89591320G>A c.1828G>A c.(1828-1830)Gat>Aat p.D610N BLCA 4 89597515 89597515 + Missense_Mutation SNP A A G TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr4:89597515A>G c.1966A>G c.(1966-1968)Atc>Gtc p.I656V BLCA 4 89599246 89599246 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr4:89599246G>C c.2157G>C c.(2155-2157)ctG>ctC p.L719L BLCA 4 89599257 89599257 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr4:89599257C>T c.2168C>T c.(2167-2169)tCt>tTt p.S723F BLCA 4 89625430 89625430 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr4:89625430G>C c.2839G>C c.(2839-2841)Gag>Cag p.E947Q BLCA 4 89628029 89628029 + Missense_Mutation SNP T T A TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr4:89628029T>A c.3071T>A c.(3070-3072)cTc>cAc p.L1024H BRCA 4 89577057 89577057 + Missense_Mutation SNP G G A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 g.chr4:89577057G>A c.940G>A c.(940-942)Gga>Aga p.G314R BRCA 4 89627934 89627934 + Silent SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr4:89627934C>A c.2976C>A c.(2974-2976)atC>atA p.I992I CESC 4 89628057 89628057 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 g.chr4:89628057G>T c.3099G>T c.(3097-3099)ctG>ctT p.L1033L CHOL 4 89591061 89591061 + Missense_Mutation SNP C C A TCGA-YR-A95A-01A-12D-A417-09 TCGA-YR-A95A-10A-01D-A41A-09 g.chr4:89591061C>A c.1684C>A c.(1684-1686)Ctc>Atc p.L562I COAD 4 89571131 89571131 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:89571131G>A c.367G>A c.(367-369)Gat>Aat p.D123N COAD 4 89575227 89575227 + Silent SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr4:89575227C>T c.720C>T c.(718-720)cgC>cgT p.R240R COAD 4 89575260 89575260 + Missense_Mutation SNP A A C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr4:89575260A>C c.753A>C c.(751-753)gaA>gaC p.E251D COAD 4 89579568 89579568 + Missense_Mutation SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr4:89579568C>T c.1072C>T c.(1072-1074)Cgc>Tgc p.R358C COAD 4 89579601 89579601 + Missense_Mutation SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr4:89579601T>C c.1105T>C c.(1105-1107)Tct>Cct p.S369P COAD 4 89591056 89591056 + Missense_Mutation SNP T T C TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:89591056T>C c.1679T>C c.(1678-1680)gTa>gCa p.V560A COAD 4 89591061 89591061 + Missense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr4:89591061C>A c.1684C>A c.(1684-1686)Ctc>Atc p.L562I COAD 4 89591405 89591405 + Splice_Site SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr4:89591405T>C c.e16+2 COAD 4 89599143 89599143 + Missense_Mutation SNP A A T TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr4:89599143A>T c.2054A>T c.(2053-2055)aAt>aTt p.N685I COAD 4 89601316 89601316 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:89601316G>T c.2269G>T c.(2269-2271)Gaa>Taa p.E757* COAD 4 89602385 89602385 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr4:89602385G>A c.2416G>A c.(2416-2418)Gat>Aat p.D806N COAD 4 89607952 89607952 + Splice_Site SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr4:89607952C>T c.2573C>T c.(2572-2574)aCg>aTg p.T858M COAD 4 89625706 89625706 + Silent SNP A A G TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr4:89625706A>G c.2889A>G c.(2887-2889)aaA>aaG p.K963K COADREAD 4 89571131 89571131 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:89571131G>A c.367G>A c.(367-369)Gat>Aat p.D123N COADREAD 4 89575195 89575195 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:89575195C>T c.688C>T c.(688-690)Cga>Tga p.R230* COADREAD 4 89575227 89575227 + Silent SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr4:89575227C>T c.720C>T c.(718-720)cgC>cgT p.R240R COADREAD 4 89575260 89575260 + Missense_Mutation SNP A A C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr4:89575260A>C c.753A>C c.(751-753)gaA>gaC p.E251D COADREAD 4 89579568 89579568 + Missense_Mutation SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr4:89579568C>T c.1072C>T c.(1072-1074)Cgc>Tgc p.R358C COADREAD 4 89579601 89579601 + Missense_Mutation SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr4:89579601T>C c.1105T>C c.(1105-1107)Tct>Cct p.S369P COADREAD 4 89591036 89591036 + Frame_Shift_Del DEL G G - TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:89591036delG c.1659delG c.(1657-1659)ccgfs p.P553fs COADREAD 4 89591056 89591056 + Missense_Mutation SNP T T C TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:89591056T>C c.1679T>C c.(1678-1680)gTa>gCa p.V560A COADREAD 4 89591061 89591061 + Missense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr4:89591061C>A c.1684C>A c.(1684-1686)Ctc>Atc p.L562I COADREAD 4 89591099 89591099 + Silent SNP A A G TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr4:89591099A>G c.1722A>G c.(1720-1722)agA>agG p.R574R COADREAD 4 89591405 89591405 + Splice_Site SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr4:89591405T>C c.e16+2 COADREAD 4 89599143 89599143 + Missense_Mutation SNP A A T TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr4:89599143A>T c.2054A>T c.(2053-2055)aAt>aTt p.N685I COADREAD 4 89599224 89599224 + Missense_Mutation SNP T T C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr4:89599224T>C c.2135T>C c.(2134-2136)gTt>gCt p.V712A COADREAD 4 89601316 89601316 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:89601316G>T c.2269G>T c.(2269-2271)Gaa>Taa p.E757* COADREAD 4 89602385 89602385 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr4:89602385G>A c.2416G>A c.(2416-2418)Gat>Aat p.D806N COADREAD 4 89607952 89607952 + Splice_Site SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr4:89607952C>T c.2573C>T c.(2572-2574)aCg>aTg p.T858M COADREAD 4 89625706 89625706 + Silent SNP A A G TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr4:89625706A>G c.2889A>G c.(2887-2889)aaA>aaG p.K963K ESCA 4 89571101 89571101 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 g.chr4:89571101G>A c.337G>A c.(337-339)Gat>Aat p.D113N ESCA 4 89576391 89576391 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 g.chr4:89576391G>T c.844G>T c.(844-846)Gag>Tag p.E282* ESCA 4 89601387 89601387 + Splice_Site SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 g.chr4:89601387G>T c.2340G>T c.(2338-2340)acG>acT p.T780T ESCA 4 89608381 89608381 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr4:89608381G>T c.2588G>T c.(2587-2589)aGc>aTc p.S863I GBMLGG 4 89583639 89583639 + Missense_Mutation SNP A A G TCGA-CS-5396-01A-02D-1468-08 TCGA-CS-5396-10A-01D-1468-08 g.chr4:89583639A>G c.1204A>G c.(1204-1206)Ata>Gta p.I402V GBMLGG 4 89599166 89599166 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:89599166G>A c.2077G>A c.(2077-2079)Gag>Aag p.E693K HNSC 4 89574019 89574019 + Splice_Site SNP G G C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 g.chr4:89574019G>C c.e6-1 HNSC 4 89583677 89583677 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 g.chr4:89583677C>T c.1242C>T c.(1240-1242)ctC>ctT p.L414L HNSC 4 89583679 89583679 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 g.chr4:89583679C>T c.1244C>T c.(1243-1245)tCa>tTa p.S415L HNSC 4 89583679 89583679 + Nonsense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 g.chr4:89583679C>G c.1244C>G c.(1243-1245)tCa>tGa p.S415* HNSC 4 89589132 89589132 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr4:89589132T>C c.1533T>C c.(1531-1533)ccT>ccC p.P511P HNSC 4 89591032 89591032 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 g.chr4:89591032G>A c.1655G>A c.(1654-1656)tGc>tAc p.C552Y HNSC 4 89607922 89607922 + Missense_Mutation SNP A A G TCGA-CV-5432-01A-02D-1683-08 TCGA-CV-5432-10A-01D-1870-08 g.chr4:89607922A>G c.2543A>G c.(2542-2544)gAt>gGt p.D848G HNSC 4 89625374 89625374 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chr4:89625374C>T c.2783C>T c.(2782-2784)tCa>tTa p.S928L HNSC 4 89627912 89627912 + Missense_Mutation SNP C C A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 g.chr4:89627912C>A c.2954C>A c.(2953-2955)aCa>aAa p.T985K KIPAN 4 89575198 89575198 + Nonsense_Mutation SNP G G T TCGA-G7-7501-01A-11D-2201-08 TCGA-G7-7501-10A-01D-2201-08 g.chr4:89575198G>T c.691G>T c.(691-693)Gaa>Taa p.E231* KIPAN 4 89577067 89577067 + Missense_Mutation SNP A A G TCGA-CZ-5986-01A-11D-1669-08 TCGA-CZ-5986-11A-01D-1669-08 g.chr4:89577067A>G c.950A>G c.(949-951)tAt>tGt p.Y317C KIPAN 4 89583638 89583638 + Missense_Mutation SNP A A C TCGA-CJ-4635-01A-02D-1373-10 TCGA-CJ-4635-11B-01D-1373-10 g.chr4:89583638A>C c.1203A>C c.(1201-1203)ttA>ttC p.L401F KIPAN 4 89583701 89583701 + Frame_Shift_Del DEL A A - TCGA-2Z-A9JR-01A-12D-A42J-10 TCGA-2Z-A9JR-10A-01D-A42M-10 g.chr4:89583701delA c.1266delA c.(1264-1266)acafs p.T422fs KIPAN 4 89607937 89607937 + Missense_Mutation SNP T T A TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr4:89607937T>A c.2558T>A c.(2557-2559)tTc>tAc p.F853Y KIRC 4 89577067 89577067 + Missense_Mutation SNP A A G TCGA-CZ-5986-01A-11D-1669-08 TCGA-CZ-5986-11A-01D-1669-08 g.chr4:89577067A>G c.950A>G c.(949-951)tAt>tGt p.Y317C KIRC 4 89583638 89583638 + Missense_Mutation SNP A A C TCGA-CJ-4635-01A-02D-1373-10 TCGA-CJ-4635-11B-01D-1373-10 g.chr4:89583638A>C c.1203A>C c.(1201-1203)ttA>ttC p.L401F KIRC 4 89607937 89607937 + Missense_Mutation SNP T T A TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr4:89607937T>A c.2558T>A c.(2557-2559)tTc>tAc p.F853Y KIRP 4 89575198 89575198 + Nonsense_Mutation SNP G G T TCGA-G7-7501-01A-11D-2201-08 TCGA-G7-7501-10A-01D-2201-08 g.chr4:89575198G>T c.691G>T c.(691-693)Gaa>Taa p.E231* KIRP 4 89583701 89583701 + Frame_Shift_Del DEL A A - TCGA-2Z-A9JR-01A-12D-A42J-10 TCGA-2Z-A9JR-10A-01D-A42M-10 g.chr4:89583701delA c.1266delA c.(1264-1266)acafs p.T422fs LGG 4 89583639 89583639 + Missense_Mutation SNP A A G TCGA-CS-5396-01A-02D-1468-08 TCGA-CS-5396-10A-01D-1468-08 g.chr4:89583639A>G c.1204A>G c.(1204-1206)Ata>Gta p.I402V LGG 4 89599166 89599166 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:89599166G>A c.2077G>A c.(2077-2079)Gag>Aag p.E693K LIHC 4 89591124 89591124 + Missense_Mutation SNP T T C TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr4:89591124T>C c.1747T>C c.(1747-1749)Ttt>Ctt p.F583L LIHC 4 89591339 89591339 + Missense_Mutation SNP A A T TCGA-DD-A11A-01A-11D-A12Z-10 TCGA-DD-A11A-10A-01D-A12Z-10 g.chr4:89591339A>T c.1847A>T c.(1846-1848)gAg>gTg p.E616V LIHC 4 89601295 89601295 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr4:89601295delT c.2248delT c.(2248-2250)tttfs p.F751fs LUAD 4 89574037 89574038 + Frame_Shift_Ins INS - - G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 g.chr4:89574037_89574038insG c.481_482insG c.(481-483)tggfs p.W161fs LUAD 4 89574133 89574133 + Missense_Mutation SNP G G T TCGA-49-4514-01A-21D-1855-08 TCGA-49-4514-11A-01D-1855-08 g.chr4:89574133G>T c.577G>T c.(577-579)Gct>Tct p.A193S LUAD 4 89576324 89576324 + Splice_Site SNP G G C TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr4:89576324G>C c.e8-1 LUAD 4 89576424 89576424 + Missense_Mutation SNP G G C TCGA-MP-A4TC-01A-11D-A24P-08 TCGA-MP-A4TC-10A-01D-A24P-08 g.chr4:89576424G>C c.877G>C c.(877-879)Ggt>Cgt p.G293R LUAD 4 89577183 89577183 + Missense_Mutation SNP G G T TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr4:89577183G>T c.1066G>T c.(1066-1068)Gct>Tct p.A356S LUAD 4 89591018 89591018 + Missense_Mutation SNP G G T TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr4:89591018G>T c.1641G>T c.(1639-1641)tgG>tgT p.W547C LUAD 4 89591020 89591020 + Missense_Mutation SNP G G C TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chr4:89591020G>C c.1643G>C c.(1642-1644)tGg>tCg p.W548S LUAD 4 89602477 89602477 + Splice_Site SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 g.chr4:89602477G>T c.e21+1 LUAD 4 89608371 89608371 + Missense_Mutation SNP T T A TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr4:89608371T>A c.2578T>A c.(2578-2580)Tgc>Agc p.C860S LUSC 4 89526980 89526980 + Silent SNP A A G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr4:89526980A>G c.6A>G c.(4-6)ttA>ttG p.L2L LUSC 4 89527029 89527029 + Missense_Mutation SNP C C A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 g.chr4:89527029C>A c.55C>A c.(55-57)Cag>Aag p.Q19K LUSC 4 89571022 89571022 + Missense_Mutation SNP C C G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 g.chr4:89571022C>G c.258C>G c.(256-258)atC>atG p.I86M LUSC 4 89574024 89574024 + Silent SNP C C G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 g.chr4:89574024C>G c.468C>G c.(466-468)ggC>ggG p.G156G LUSC 4 89574214 89574214 + Missense_Mutation SNP G G A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 g.chr4:89574214G>A c.658G>A c.(658-660)Ggg>Agg p.G220R LUSC 4 89591092 89591092 + Missense_Mutation SNP G G A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr4:89591092G>A c.1715G>A c.(1714-1716)aGg>aAg p.R572K LUSC 4 89591352 89591352 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr4:89591352C>T c.1860C>T c.(1858-1860)ctC>ctT p.L620L LUSC 4 89591400 89591400 + Silent SNP G G T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 g.chr4:89591400G>T c.1908G>T c.(1906-1908)ggG>ggT p.G636G LUSC 4 89627996 89627996 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr4:89627996C>T c.3038C>T c.(3037-3039)cCg>cTg p.P1013L OV 4 89575201 89575201 + Missense_Mutation SNP T T A TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 g.chr4:89575201T>A c.694T>A c.(694-696)Tct>Act p.S232T OV 4 89577085 89577085 + Missense_Mutation SNP C C G TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 g.chr4:89577085C>G c.968C>G c.(967-969)gCa>gGa p.A323G OV 4 89625685 89625685 + Silent SNP G G A TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 g.chr4:89625685G>A c.2868G>A c.(2866-2868)tcG>tcA p.S956S PAAD 4 89571092 89571092 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:89571092G>A c.328G>A c.(328-330)Gca>Aca p.A110T PRAD 4 89574198 89574198 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:89574198G>A c.642G>A c.(640-642)tgG>tgA p.W214* PRAD 4 89577167 89577167 + Silent SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr4:89577167C>T c.1050C>T c.(1048-1050)ggC>ggT p.G350G READ 4 89575195 89575195 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:89575195C>T c.688C>T c.(688-690)Cga>Tga p.R230* READ 4 89591036 89591036 + Frame_Shift_Del DEL G G - TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:89591036delG c.1659delG c.(1657-1659)ccgfs p.P553fs READ 4 89591099 89591099 + Silent SNP A A G TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr4:89591099A>G c.1722A>G c.(1720-1722)agA>agG p.R574R READ 4 89599224 89599224 + Missense_Mutation SNP T T C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr4:89599224T>C c.2135T>C c.(2134-2136)gTt>gCt p.V712A SARC 4 89574169 89574169 + Silent SNP C C T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 g.chr4:89574169C>T c.613C>T c.(613-615)Ctg>Ttg p.L205L SKCM 4 89574082 89574082 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:89574082C>T c.526C>T c.(526-528)Ccc>Tcc p.P176S SKCM 4 89574126 89574126 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr4:89574126C>T c.570C>T c.(568-570)atC>atT p.I190I SKCM 4 89576354 89576354 + Silent SNP T T C TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr4:89576354T>C c.807T>C c.(805-807)ggT>ggC p.G269G SKCM 4 89579580 89579580 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr4:89579580C>T c.1084C>T c.(1084-1086)Cat>Tat p.H362Y SKCM 4 89579585 89579585 + Silent SNP C C T TCGA-D3-A2JP-06A-11D-A19A-08 TCGA-D3-A2JP-10A-01D-A19A-08 g.chr4:89579585C>T c.1089C>T c.(1087-1089)atC>atT p.I363I SKCM 4 89588561 89588561 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 g.chr4:89588561C>T c.1365C>T c.(1363-1365)atC>atT p.I455I SKCM 4 89588562 89588562 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr4:89588562C>T c.1366C>T c.(1366-1368)Cct>Tct p.P456S SKCM 4 89591116 89591116 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 g.chr4:89591116C>T c.1739C>T c.(1738-1740)cCc>cTc p.P580L SKCM 4 89597509 89597509 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr4:89597509C>T c.1960C>T c.(1960-1962)Cct>Tct p.P654S SKCM 4 89601295 89601295 + Frame_Shift_Del DEL T T - TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr4:89601295delT c.2248delT c.(2248-2250)tttfs p.F751fs SKCM 4 89608440 89608440 + Nonsense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr4:89608440A>T c.2647A>T c.(2647-2649)Aag>Tag p.K883* SKCM 4 89627995 89627995 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 g.chr4:89627995C>T c.3037C>T c.(3037-3039)Ccg>Tcg p.P1013S SKCM 4 89628082 89628082 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr4:89628082G>A c.3124G>A c.(3124-3126)Gac>Aac p.D1042N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 4 89618749 89618749 single base substitution C T intron_variant BLCA-CN 4 89618775 89618775 single base substitution G C intron_variant BLCA-CN 4 89618776 89618776 single base substitution G A intron_variant BLCA-US 4 89618431 89618433 deletion of <=200bp CCT - intron_variant BRCA-EU 4 89439730 89439730 single base substitution A T upstream_gene_variant BRCA-EU 4 89441160 89441160 single base substitution G A upstream_gene_variant BRCA-EU 4 89442256 89442256 single base substitution T C exon_variant BRCA-EU 4 89442256 89442256 single base substitution T C upstream_gene_variant BRCA-EU 4 89443000 89443000 single base substitution G C exon_variant BRCA-EU 4 89443000 89443000 single base substitution G C upstream_gene_variant BRCA-EU 4 89443053 89443055 deletion of <=200bp CTT - exon_variant BRCA-EU 4 89443053 89443055 deletion of <=200bp CTT - upstream_gene_variant BRCA-EU 4 89443190 89443190 deletion of <=200bp A - intron_variant BRCA-EU 4 89443190 89443190 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 89443190 89443190 insertion of <=200bp - A intron_variant BRCA-EU 4 89443190 89443190 insertion of <=200bp - A upstream_gene_variant BRCA-EU 4 89443346 89443346 single base substitution T A intron_variant BRCA-EU 4 89443346 89443346 single base substitution T A upstream_gene_variant BRCA-EU 4 89443438 89443438 deletion of <=200bp T - intron_variant BRCA-EU 4 89443438 89443438 deletion of <=200bp T - upstream_gene_variant BRCA-EU 4 89445944 89445944 single base substitution C T downstream_gene_variant BRCA-EU 4 89445944 89445944 single base substitution C T exon_variant BRCA-EU 4 89445944 89445944 single base substitution C T intron_variant BRCA-EU 4 89445995 89445995 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 89445995 89445995 deletion of <=200bp T - exon_variant BRCA-EU 4 89445995 89445995 deletion of <=200bp T - intron_variant BRCA-EU 4 89446061 89446061 single base substitution C T downstream_gene_variant BRCA-EU 4 89446061 89446061 single base substitution C T exon_variant BRCA-EU 4 89446061 89446061 single base substitution C T intron_variant BRCA-EU 4 89446589 89446589 single base substitution C T downstream_gene_variant BRCA-EU 4 89446589 89446589 single base substitution C T intron_variant BRCA-EU 4 89447086 89447086 single base substitution A C downstream_gene_variant BRCA-EU 4 89447086 89447086 single base substitution A C intron_variant BRCA-EU 4 89450232 89450232 single base substitution A C downstream_gene_variant BRCA-EU 4 89450232 89450232 single base substitution A C intron_variant BRCA-EU 4 89450671 89450671 single base substitution C T downstream_gene_variant BRCA-EU 4 89450671 89450671 single base substitution C T intron_variant BRCA-EU 4 89453040 89453040 single base substitution G A intron_variant BRCA-EU 4 89454953 89454953 single base substitution T C intron_variant BRCA-EU 4 89457762 89457762 single base substitution G A intron_variant BRCA-EU 4 89458105 89458105 single base substitution C T intron_variant BRCA-EU 4 89458560 89458560 single base substitution C T intron_variant BRCA-EU 4 89458950 89458950 single base substitution G A intron_variant BRCA-EU 4 89461330 89461330 single base substitution G A intron_variant BRCA-EU 4 89463793 89463793 single base substitution A T intron_variant BRCA-EU 4 89464137 89464137 single base substitution G T intron_variant BRCA-EU 4 89465246 89465246 single base substitution C T intron_variant BRCA-EU 4 89466140 89466140 single base substitution A T intron_variant BRCA-EU 4 89470048 89470048 single base substitution G A intron_variant BRCA-EU 4 89470383 89470383 single base substitution G T intron_variant BRCA-EU 4 89470996 89470996 single base substitution G A intron_variant BRCA-EU 4 89475744 89475744 single base substitution C T intron_variant BRCA-EU 4 89476172 89476172 single base substitution C G intron_variant BRCA-EU 4 89481007 89481007 single base substitution C T intron_variant BRCA-EU 4 89481745 89481745 single base substitution G C intron_variant BRCA-EU 4 89483518 89483518 single base substitution A T intron_variant BRCA-EU 4 89483762 89483762 single base substitution C A intron_variant BRCA-EU 4 89486812 89486812 deletion of <=200bp T - intron_variant BRCA-EU 4 89487097 89487097 deletion of <=200bp T - intron_variant BRCA-EU 4 89490155 89490155 single base substitution C T intron_variant BRCA-EU 4 89490461 89490461 single base substitution C T intron_variant BRCA-EU 4 89490639 89490639 single base substitution C A intron_variant BRCA-EU 4 89490980 89490980 single base substitution G A intron_variant BRCA-EU 4 89491582 89491582 single base substitution T A intron_variant BRCA-EU 4 89493245 89493245 single base substitution G A intron_variant BRCA-EU 4 89493778 89493778 single base substitution G A intron_variant BRCA-EU 4 89494299 89494299 single base substitution A T intron_variant BRCA-EU 4 89494863 89494863 single base substitution G T intron_variant BRCA-EU 4 89496096 89496096 single base substitution G T intron_variant BRCA-EU 4 89496553 89496553 single base substitution G A intron_variant BRCA-EU 4 89496749 89496749 single base substitution C T intron_variant BRCA-EU 4 89496785 89496785 single base substitution C T intron_variant BRCA-EU 4 89497791 89497791 single base substitution G A intron_variant BRCA-EU 4 89499508 89499508 single base substitution A G intron_variant BRCA-EU 4 89501680 89501680 insertion of <=200bp - A intron_variant BRCA-EU 4 89503334 89503334 single base substitution T G intron_variant BRCA-EU 4 89505134 89505134 single base substitution G A intron_variant BRCA-EU 4 89505556 89505556 single base substitution G A intron_variant BRCA-EU 4 89506622 89506622 single base substitution T C intron_variant BRCA-EU 4 89506718 89506720 deletion of <=200bp TTA - intron_variant BRCA-EU 4 89507075 89507075 single base substitution A T intron_variant BRCA-EU 4 89507219 89507223 deletion of <=200bp TTTAC - intron_variant BRCA-EU 4 89507617 89507617 single base substitution C T intron_variant BRCA-EU 4 89508176 89508176 insertion of <=200bp - T intron_variant BRCA-EU 4 89508195 89508195 single base substitution C G intron_variant BRCA-EU 4 89509767 89509767 single base substitution T C intron_variant BRCA-EU 4 89509767 89509767 single base substitution T C upstream_gene_variant BRCA-EU 4 89509805 89509805 single base substitution C G intron_variant BRCA-EU 4 89509805 89509805 single base substitution C G upstream_gene_variant BRCA-EU 4 89510365 89510365 single base substitution C T intron_variant BRCA-EU 4 89510365 89510365 single base substitution C T upstream_gene_variant BRCA-EU 4 89510626 89510626 single base substitution A G intron_variant BRCA-EU 4 89510626 89510626 single base substitution A G upstream_gene_variant BRCA-EU 4 89511723 89511723 insertion of <=200bp - A intron_variant BRCA-EU 4 89511723 89511723 insertion of <=200bp - A upstream_gene_variant BRCA-EU 4 89511872 89511872 single base substitution T C intron_variant BRCA-EU 4 89511872 89511872 single base substitution T C upstream_gene_variant BRCA-EU 4 89513136 89513136 single base substitution C G intron_variant BRCA-EU 4 89513136 89513136 single base substitution C G upstream_gene_variant BRCA-EU 4 89513416 89513416 single base substitution G T intron_variant BRCA-EU 4 89513416 89513416 single base substitution G T upstream_gene_variant BRCA-EU 4 89515278 89515278 single base substitution T G intron_variant BRCA-EU 4 89515699 89515699 single base substitution C T intron_variant BRCA-EU 4 89516584 89516584 single base substitution C T intron_variant BRCA-EU 4 89517191 89517191 single base substitution G A intron_variant BRCA-EU 4 89517739 89517739 single base substitution G A intron_variant BRCA-EU 4 89522329 89522329 single base substitution T C intron_variant BRCA-EU 4 89522329 89522329 single base substitution T C upstream_gene_variant BRCA-EU 4 89522618 89522618 single base substitution G A intron_variant BRCA-EU 4 89522618 89522618 single base substitution G A upstream_gene_variant BRCA-EU 4 89524294 89524294 single base substitution T G intron_variant BRCA-EU 4 89524294 89524294 single base substitution T G upstream_gene_variant BRCA-EU 4 89527179 89527179 single base substitution G A missense_variant E69K 205G>A BRCA-EU 4 89527868 89527868 single base substitution A G intron_variant BRCA-EU 4 89529601 89529601 single base substitution T A intron_variant BRCA-EU 4 89532273 89532273 single base substitution C G intron_variant BRCA-EU 4 89539016 89539016 single base substitution C T intron_variant BRCA-EU 4 89541711 89541711 insertion of <=200bp - C intron_variant BRCA-EU 4 89543398 89543398 single base substitution C G intron_variant BRCA-EU 4 89544450 89544450 single base substitution C G intron_variant BRCA-EU 4 89544515 89544515 single base substitution T G intron_variant BRCA-EU 4 89544865 89544865 single base substitution C T intron_variant BRCA-EU 4 89546316 89546316 deletion of <=200bp T - intron_variant BRCA-EU 4 89546466 89546466 single base substitution C T intron_variant BRCA-EU 4 89546522 89546522 single base substitution C G intron_variant BRCA-EU 4 89546784 89546784 single base substitution C G intron_variant BRCA-EU 4 89546810 89546810 single base substitution C A intron_variant BRCA-EU 4 89547229 89547229 single base substitution C T intron_variant BRCA-EU 4 89547397 89547397 single base substitution C T intron_variant BRCA-EU 4 89547907 89547907 single base substitution C T intron_variant BRCA-EU 4 89548203 89548203 single base substitution C G intron_variant BRCA-EU 4 89548364 89548364 single base substitution C T intron_variant BRCA-EU 4 89548395 89548395 single base substitution C T intron_variant BRCA-EU 4 89548961 89548961 single base substitution T A intron_variant BRCA-EU 4 89550722 89550722 single base substitution T C intron_variant BRCA-EU 4 89550912 89550912 single base substitution C G intron_variant BRCA-EU 4 89551276 89551276 single base substitution C G intron_variant BRCA-EU 4 89551391 89551391 single base substitution G C intron_variant BRCA-EU 4 89551538 89551541 deletion of <=200bp ATTG - intron_variant BRCA-EU 4 89551819 89551819 single base substitution C T intron_variant BRCA-EU 4 89553131 89553131 single base substitution T G intron_variant BRCA-EU 4 89554271 89554271 single base substitution C G intron_variant BRCA-EU 4 89555039 89555039 single base substitution G C intron_variant BRCA-EU 4 89555637 89555637 single base substitution C A intron_variant BRCA-EU 4 89559654 89559654 single base substitution C G intron_variant BRCA-EU 4 89559660 89559660 single base substitution A T intron_variant BRCA-EU 4 89560228 89560228 single base substitution C T intron_variant BRCA-EU 4 89561851 89561851 single base substitution C A intron_variant BRCA-EU 4 89562084 89562084 single base substitution T C intron_variant BRCA-EU 4 89563035 89563035 single base substitution G A intron_variant BRCA-EU 4 89564884 89564884 single base substitution C T intron_variant BRCA-EU 4 89565891 89565891 deletion of <=200bp A - intron_variant BRCA-EU 4 89566287 89566287 single base substitution A T intron_variant BRCA-EU 4 89567985 89567985 single base substitution A G intron_variant BRCA-EU 4 89568433 89568433 single base substitution G C intron_variant BRCA-EU 4 89574468 89574468 single base substitution A T downstream_gene_variant BRCA-EU 4 89574468 89574468 single base substitution A T intron_variant BRCA-EU 4 89574468 89574468 single base substitution A T upstream_gene_variant BRCA-EU 4 89575290 89575290 single base substitution G C downstream_gene_variant BRCA-EU 4 89575290 89575290 single base substitution G C splice_region_variant BRCA-EU 4 89575290 89575290 single base substitution G C upstream_gene_variant BRCA-EU 4 89575465 89575465 single base substitution C G downstream_gene_variant BRCA-EU 4 89575465 89575465 single base substitution C G intron_variant BRCA-EU 4 89575465 89575465 single base substitution C G upstream_gene_variant BRCA-EU 4 89575864 89575864 single base substitution T G downstream_gene_variant BRCA-EU 4 89575864 89575864 single base substitution T G intron_variant BRCA-EU 4 89575864 89575864 single base substitution T G upstream_gene_variant BRCA-EU 4 89577380 89577380 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 89577380 89577380 single base substitution C T downstream_gene_variant BRCA-EU 4 89577380 89577380 single base substitution C T intron_variant BRCA-EU 4 89577380 89577380 single base substitution C T upstream_gene_variant BRCA-EU 4 89578359 89578359 single base substitution T A 3_prime_UTR_variant BRCA-EU 4 89578359 89578359 single base substitution T A downstream_gene_variant BRCA-EU 4 89578359 89578359 single base substitution T A intron_variant BRCA-EU 4 89578359 89578359 single base substitution T A upstream_gene_variant BRCA-EU 4 89579026 89579026 single base substitution G T downstream_gene_variant BRCA-EU 4 89579026 89579026 single base substitution G T intron_variant BRCA-EU 4 89579026 89579026 single base substitution G T upstream_gene_variant BRCA-EU 4 89579492 89579492 single base substitution C T 5_prime_UTR_variant BRCA-EU 4 89579492 89579492 single base substitution C T downstream_gene_variant BRCA-EU 4 89579492 89579492 single base substitution C T exon_variant BRCA-EU 4 89579492 89579492 single base substitution C T intron_variant BRCA-EU 4 89579511 89579511 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 4 89579511 89579511 single base substitution C G downstream_gene_variant BRCA-EU 4 89579511 89579511 single base substitution C G exon_variant BRCA-EU 4 89579511 89579511 single base substitution C G intron_variant BRCA-EU 4 89579695 89579698 multiple base substitution (>=2bp and <=200bp) CATT CA downstream_gene_variant BRCA-EU 4 89579695 89579698 multiple base substitution (>=2bp and <=200bp) CATT CA intron_variant BRCA-EU 4 89579699 89579699 single base substitution T A downstream_gene_variant BRCA-EU 4 89579699 89579699 single base substitution T A intron_variant BRCA-EU 4 89579888 89579888 single base substitution A G downstream_gene_variant BRCA-EU 4 89579888 89579888 single base substitution A G intron_variant BRCA-EU 4 89582993 89582993 single base substitution G A downstream_gene_variant BRCA-EU 4 89582993 89582993 single base substitution G A intron_variant BRCA-EU 4 89583383 89583383 single base substitution C G downstream_gene_variant BRCA-EU 4 89583383 89583383 single base substitution C G intron_variant BRCA-EU 4 89583873 89583873 single base substitution A T intron_variant BRCA-EU 4 89583873 89583873 single base substitution A T upstream_gene_variant BRCA-EU 4 89584182 89584182 single base substitution G C intron_variant BRCA-EU 4 89584182 89584182 single base substitution G C upstream_gene_variant BRCA-EU 4 89584501 89584501 single base substitution G T intron_variant BRCA-EU 4 89584501 89584501 single base substitution G T upstream_gene_variant BRCA-EU 4 89584512 89584512 single base substitution G C intron_variant BRCA-EU 4 89584512 89584512 single base substitution G C upstream_gene_variant BRCA-EU 4 89585489 89585489 single base substitution G A intron_variant BRCA-EU 4 89585489 89585489 single base substitution G A upstream_gene_variant BRCA-EU 4 89587621 89587621 single base substitution A C intron_variant BRCA-EU 4 89587621 89587621 single base substitution A C upstream_gene_variant BRCA-EU 4 89587632 89587632 single base substitution T G intron_variant BRCA-EU 4 89587632 89587632 single base substitution T G upstream_gene_variant BRCA-EU 4 89588168 89588168 insertion of <=200bp - A intron_variant BRCA-EU 4 89588168 89588168 insertion of <=200bp - A upstream_gene_variant BRCA-EU 4 89588979 89588979 single base substitution T G intron_variant BRCA-EU 4 89588979 89588979 single base substitution T G upstream_gene_variant BRCA-EU 4 89590754 89590754 single base substitution A T downstream_gene_variant BRCA-EU 4 89590754 89590754 single base substitution A T intron_variant BRCA-EU 4 89590754 89590754 single base substitution A T upstream_gene_variant BRCA-EU 4 89591633 89591633 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 89591633 89591633 deletion of <=200bp A - intron_variant BRCA-EU 4 89592082 89592082 single base substitution T C downstream_gene_variant BRCA-EU 4 89592082 89592082 single base substitution T C intron_variant BRCA-EU 4 89593714 89593714 single base substitution T A downstream_gene_variant BRCA-EU 4 89593714 89593714 single base substitution T A intron_variant BRCA-EU 4 89593721 89593721 single base substitution G A downstream_gene_variant BRCA-EU 4 89593721 89593721 single base substitution G A intron_variant BRCA-EU 4 89595049 89595049 single base substitution T G downstream_gene_variant BRCA-EU 4 89595049 89595049 single base substitution T G intron_variant BRCA-EU 4 89595413 89595413 single base substitution G A downstream_gene_variant BRCA-EU 4 89595413 89595413 single base substitution G A intron_variant BRCA-EU 4 89596813 89596813 single base substitution C G intron_variant BRCA-EU 4 89597477 89597477 single base substitution T C splice_region_variant BRCA-EU 4 89598518 89598518 single base substitution C T intron_variant BRCA-EU 4 89599074 89599074 single base substitution G A intron_variant BRCA-EU 4 89599667 89599667 single base substitution G A intron_variant BRCA-EU 4 89600500 89600500 single base substitution C T intron_variant BRCA-EU 4 89601652 89601652 single base substitution A G intron_variant BRCA-EU 4 89602295 89602295 single base substitution A G intron_variant BRCA-EU 4 89604894 89604894 deletion of <=200bp T - intron_variant BRCA-EU 4 89604897 89604897 single base substitution T A intron_variant BRCA-EU 4 89605109 89605109 single base substitution A T intron_variant BRCA-EU 4 89605118 89605118 single base substitution G C intron_variant BRCA-EU 4 89605171 89605171 single base substitution A C intron_variant BRCA-EU 4 89605179 89605179 single base substitution G A intron_variant BRCA-EU 4 89605747 89605747 single base substitution G T intron_variant BRCA-EU 4 89606338 89606338 single base substitution G A intron_variant BRCA-EU 4 89608225 89608225 single base substitution C G intron_variant BRCA-EU 4 89609102 89609102 single base substitution C G downstream_gene_variant BRCA-EU 4 89609102 89609102 single base substitution C G intron_variant BRCA-EU 4 89609176 89609176 single base substitution A T downstream_gene_variant BRCA-EU 4 89609176 89609176 single base substitution A T intron_variant BRCA-EU 4 89610196 89610196 single base substitution G A downstream_gene_variant BRCA-EU 4 89610196 89610196 single base substitution G A intron_variant BRCA-EU 4 89610913 89610913 single base substitution G C downstream_gene_variant BRCA-EU 4 89610913 89610913 single base substitution G C intron_variant BRCA-EU 4 89611018 89611018 single base substitution C A downstream_gene_variant BRCA-EU 4 89611018 89611018 single base substitution C A intron_variant BRCA-EU 4 89612583 89612583 single base substitution C G downstream_gene_variant BRCA-EU 4 89612583 89612583 single base substitution C G intron_variant BRCA-EU 4 89616354 89616354 single base substitution G C intron_variant BRCA-EU 4 89617451 89617451 single base substitution G C intron_variant BRCA-EU 4 89617610 89617610 single base substitution C T intron_variant BRCA-EU 4 89617802 89617802 single base substitution T C intron_variant BRCA-EU 4 89618756 89618756 single base substitution C T intron_variant BRCA-EU 4 89619147 89619147 single base substitution C G intron_variant BRCA-EU 4 89622790 89622790 single base substitution G A intron_variant BRCA-EU 4 89624899 89624899 single base substitution G C intron_variant BRCA-EU 4 89627031 89627031 single base substitution A C intron_variant BRCA-EU 4 89628356 89628356 single base substitution A T 3_prime_UTR_variant BRCA-EU 4 89628976 89628976 single base substitution A C 3_prime_UTR_variant BRCA-EU 4 89628976 89628976 single base substitution A C downstream_gene_variant BRCA-EU 4 89629620 89629620 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 4 89629620 89629620 deletion of <=200bp G - downstream_gene_variant BRCA-EU 4 89632142 89632142 single base substitution G A downstream_gene_variant BRCA-EU 4 89632899 89632899 single base substitution T C downstream_gene_variant BRCA-EU 4 89633476 89633476 single base substitution C T downstream_gene_variant BRCA-EU 4 89634502 89634502 single base substitution C G downstream_gene_variant BRCA-EU 4 89634508 89634508 single base substitution C T downstream_gene_variant BRCA-FR 4 89442256 89442256 single base substitution T C exon_variant BRCA-FR 4 89442256 89442256 single base substitution T C upstream_gene_variant BRCA-FR 4 89450232 89450232 single base substitution A C downstream_gene_variant BRCA-FR 4 89450232 89450232 single base substitution A C intron_variant BRCA-FR 4 89493245 89493245 single base substitution G A intron_variant BRCA-FR 4 89495875 89495875 single base substitution C T intron_variant BRCA-FR 4 89505134 89505134 single base substitution G A intron_variant BRCA-FR 4 89505556 89505556 single base substitution G A intron_variant BRCA-FR 4 89507075 89507075 single base substitution A T intron_variant BRCA-FR 4 89522618 89522618 single base substitution G A intron_variant BRCA-FR 4 89522618 89522618 single base substitution G A upstream_gene_variant BRCA-FR 4 89523624 89523624 single base substitution C G intron_variant BRCA-FR 4 89523624 89523624 single base substitution C G upstream_gene_variant BRCA-FR 4 89527179 89527179 single base substitution G A missense_variant E69K 205G>A BRCA-FR 4 89528721 89528721 single base substitution C G intron_variant BRCA-FR 4 89528805 89528805 single base substitution A G intron_variant BRCA-FR 4 89550912 89550912 single base substitution C G intron_variant BRCA-FR 4 89559426 89559426 single base substitution A G intron_variant BRCA-FR 4 89561851 89561851 single base substitution C A intron_variant BRCA-FR 4 89563035 89563035 single base substitution G A intron_variant BRCA-FR 4 89564884 89564884 single base substitution C T intron_variant BRCA-FR 4 89568258 89568258 single base substitution G A intron_variant BRCA-FR 4 89575465 89575465 single base substitution C G downstream_gene_variant BRCA-FR 4 89575465 89575465 single base substitution C G intron_variant BRCA-FR 4 89575465 89575465 single base substitution C G upstream_gene_variant BRCA-FR 4 89584512 89584512 single base substitution G C intron_variant BRCA-FR 4 89584512 89584512 single base substitution G C upstream_gene_variant BRCA-FR 4 89589736 89589736 single base substitution A T exon_variant BRCA-FR 4 89589736 89589736 single base substitution A T intron_variant BRCA-FR 4 89589736 89589736 single base substitution A T upstream_gene_variant BRCA-FR 4 89599667 89599667 single base substitution G A intron_variant BRCA-FR 4 89608225 89608225 single base substitution C G intron_variant BRCA-FR 4 89616354 89616354 single base substitution G C intron_variant BRCA-FR 4 89634508 89634508 single base substitution C T downstream_gene_variant BRCA-UK 4 89443000 89443000 single base substitution G C exon_variant BRCA-UK 4 89443000 89443000 single base substitution G C upstream_gene_variant BRCA-UK 4 89457080 89457080 single base substitution G C intron_variant BRCA-UK 4 89466810 89466810 single base substitution C G intron_variant BRCA-UK 4 89483762 89483762 single base substitution C A intron_variant BRCA-UK 4 89509767 89509767 single base substitution T C intron_variant BRCA-UK 4 89509767 89509767 single base substitution T C upstream_gene_variant BRCA-UK 4 89511872 89511872 single base substitution T C intron_variant BRCA-UK 4 89511872 89511872 single base substitution T C upstream_gene_variant BRCA-UK 4 89515278 89515278 single base substitution T G intron_variant BRCA-UK 4 89515628 89515628 single base substitution C T intron_variant BRCA-UK 4 89521357 89521357 single base substitution G C intron_variant BRCA-UK 4 89522347 89522347 single base substitution G C intron_variant BRCA-UK 4 89522347 89522347 single base substitution G C upstream_gene_variant BRCA-UK 4 89522784 89522784 single base substitution G A intron_variant BRCA-UK 4 89522784 89522784 single base substitution G A upstream_gene_variant BRCA-UK 4 89539016 89539016 single base substitution C T intron_variant BRCA-UK 4 89551391 89551391 single base substitution G C intron_variant BRCA-UK 4 89565875 89565875 single base substitution C G intron_variant BRCA-UK 4 89567985 89567985 single base substitution A G intron_variant BRCA-UK 4 89575864 89575864 single base substitution T G downstream_gene_variant BRCA-UK 4 89575864 89575864 single base substitution T G intron_variant BRCA-UK 4 89575864 89575864 single base substitution T G upstream_gene_variant BRCA-UK 4 89579568 89579568 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 4 89579568 89579568 single base substitution C T downstream_gene_variant BRCA-UK 4 89579568 89579568 single base substitution C T exon_variant BRCA-UK 4 89579568 89579568 single base substitution C T missense_variant R358C 1072C>T BRCA-UK 4 89592082 89592082 single base substitution T C downstream_gene_variant BRCA-UK 4 89592082 89592082 single base substitution T C intron_variant BRCA-UK 4 89593714 89593714 single base substitution T A downstream_gene_variant BRCA-UK 4 89593714 89593714 single base substitution T A intron_variant BRCA-UK 4 89601652 89601652 single base substitution A G intron_variant BRCA-US 4 89577057 89577057 single base substitution G A downstream_gene_variant BRCA-US 4 89577057 89577057 single base substitution G A missense_variant G314R 940G>A BRCA-US 4 89577057 89577057 single base substitution G A upstream_gene_variant BRCA-US 4 89618518 89618518 single base substitution A C intron_variant BRCA-US 4 89627934 89627934 single base substitution C A synonymous_variant I436I 1308C>A BRCA-US 4 89627934 89627934 single base substitution C A synonymous_variant I992I 2976C>A BTCA-JP 4 89443162 89443162 single base substitution G A exon_variant BTCA-JP 4 89443162 89443162 single base substitution G A upstream_gene_variant BTCA-JP 4 89579551 89579551 deletion of <=200bp T - 5_prime_UTR_variant BTCA-JP 4 89579551 89579551 deletion of <=200bp T - downstream_gene_variant BTCA-JP 4 89579551 89579551 deletion of <=200bp T - exon_variant BTCA-JP 4 89579551 89579551 deletion of <=200bp T - intron_variant BTCA-JP 4 89589717 89589717 single base substitution C T exon_variant BTCA-JP 4 89589717 89589717 single base substitution C T intron_variant BTCA-JP 4 89589717 89589717 single base substitution C T upstream_gene_variant BTCA-JP 4 89608265 89608265 single base substitution A C intron_variant BTCA-JP 4 89618853 89618853 single base substitution G A intron_variant BTCA-JP 4 89618898 89618898 single base substitution T A intron_variant CESC-US 4 89443102 89443102 single base substitution C T exon_variant CESC-US 4 89443102 89443102 single base substitution C T upstream_gene_variant CESC-US 4 89628057 89628057 single base substitution G T synonymous_variant L1033L 3099G>T CESC-US 4 89628057 89628057 single base substitution G T synonymous_variant L477L 1431G>T CLLE-ES 4 89450695 89450695 single base substitution A T downstream_gene_variant CLLE-ES 4 89450695 89450695 single base substitution A T intron_variant CLLE-ES 4 89453330 89453330 single base substitution A T intron_variant CLLE-ES 4 89464102 89464102 single base substitution G A intron_variant CLLE-ES 4 89479400 89479400 single base substitution C A intron_variant CLLE-ES 4 89479859 89479859 single base substitution A T intron_variant CLLE-ES 4 89488175 89488175 single base substitution A G intron_variant CLLE-ES 4 89488413 89488413 single base substitution T C intron_variant CLLE-ES 4 89512042 89512042 single base substitution T C intron_variant CLLE-ES 4 89512042 89512042 single base substitution T C upstream_gene_variant CLLE-ES 4 89520509 89520509 single base substitution G A intron_variant CLLE-ES 4 89530993 89530993 single base substitution C G intron_variant CLLE-ES 4 89541719 89541719 single base substitution C T intron_variant CLLE-ES 4 89542623 89542623 single base substitution A G intron_variant CLLE-ES 4 89574122 89574122 single base substitution G A downstream_gene_variant CLLE-ES 4 89574122 89574122 single base substitution G A missense_variant G189E 566G>A CLLE-ES 4 89602618 89602618 single base substitution A T intron_variant COAD-US 4 89443161 89443161 single base substitution C A exon_variant COAD-US 4 89443161 89443161 single base substitution C A upstream_gene_variant COAD-US 4 89571131 89571131 single base substitution G A downstream_gene_variant COAD-US 4 89571131 89571131 single base substitution G A missense_variant D123N 367G>A COAD-US 4 89575227 89575227 single base substitution C T downstream_gene_variant COAD-US 4 89575227 89575227 single base substitution C T synonymous_variant R240R 720C>T COAD-US 4 89575227 89575227 single base substitution C T upstream_gene_variant COAD-US 4 89577134 89577134 single base substitution T C downstream_gene_variant COAD-US 4 89577134 89577134 single base substitution T C synonymous_variant S339S 1017T>C COAD-US 4 89577134 89577134 single base substitution T C upstream_gene_variant COAD-US 4 89591405 89591405 single base substitution T C downstream_gene_variant COAD-US 4 89591405 89591405 single base substitution T C splice_donor_variant COAD-US 4 89601316 89601316 single base substitution G T stop_gained E150* 448G>T COAD-US 4 89601316 89601316 single base substitution G T stop_gained E201* 601G>T COAD-US 4 89601316 89601316 single base substitution G T stop_gained E757* 2269G>T COAD-US 4 89602385 89602385 single base substitution G A missense_variant D199N 595G>A COAD-US 4 89602385 89602385 single base substitution G A missense_variant D250N 748G>A COAD-US 4 89602385 89602385 single base substitution G A missense_variant D806N 2416G>A COAD-US 4 89618591 89618591 single base substitution C T intron_variant COAD-US 4 89618837 89618837 single base substitution T C intron_variant COAD-US 4 89619023 89619023 single base substitution C T intron_variant COCA-CN 4 89442711 89442711 single base substitution T G exon_variant COCA-CN 4 89442711 89442711 single base substitution T G upstream_gene_variant COCA-CN 4 89449097 89449097 single base substitution C T downstream_gene_variant COCA-CN 4 89449097 89449097 single base substitution C T intron_variant COCA-CN 4 89571040 89571040 single base substitution C T downstream_gene_variant COCA-CN 4 89571040 89571040 single base substitution C T synonymous_variant G92G 276C>T COCA-CN 4 89575315 89575315 single base substitution C T downstream_gene_variant COCA-CN 4 89575315 89575315 single base substitution C T intron_variant COCA-CN 4 89575315 89575315 single base substitution C T upstream_gene_variant COCA-CN 4 89589228 89589228 single base substitution A G exon_variant COCA-CN 4 89589228 89589228 single base substitution A G intron_variant COCA-CN 4 89589228 89589228 single base substitution A G synonymous_variant V543V 1629A>G COCA-CN 4 89589228 89589228 single base substitution A G upstream_gene_variant COCA-CN 4 89589720 89589720 single base substitution C T exon_variant COCA-CN 4 89589720 89589720 single base substitution C T intron_variant COCA-CN 4 89589720 89589720 single base substitution C T upstream_gene_variant COCA-CN 4 89601134 89601134 single base substitution T G intron_variant COCA-CN 4 89618314 89618314 single base substitution C T intron_variant COCA-CN 4 89618324 89618324 single base substitution C T intron_variant COCA-CN 4 89618823 89618823 single base substitution G T intron_variant EOPC-DE 4 89461994 89461994 single base substitution G T intron_variant EOPC-DE 4 89570516 89570516 single base substitution G A intron_variant ESAD-UK 4 89439317 89439317 single base substitution G A upstream_gene_variant ESAD-UK 4 89443950 89443950 single base substitution A T intron_variant ESAD-UK 4 89443950 89443950 single base substitution A T upstream_gene_variant ESAD-UK 4 89443990 89443990 single base substitution G A intron_variant ESAD-UK 4 89443990 89443990 single base substitution G A upstream_gene_variant ESAD-UK 4 89444063 89444063 single base substitution A C intron_variant ESAD-UK 4 89444063 89444063 single base substitution A C upstream_gene_variant ESAD-UK 4 89444864 89444864 single base substitution G A exon_variant ESAD-UK 4 89444864 89444864 single base substitution G A upstream_gene_variant ESAD-UK 4 89445475 89445475 single base substitution C T downstream_gene_variant ESAD-UK 4 89445475 89445475 single base substitution C T intron_variant ESAD-UK 4 89445983 89445983 single base substitution A G downstream_gene_variant ESAD-UK 4 89445983 89445983 single base substitution A G exon_variant ESAD-UK 4 89445983 89445983 single base substitution A G intron_variant ESAD-UK 4 89446178 89446178 single base substitution T A downstream_gene_variant ESAD-UK 4 89446178 89446178 single base substitution T A intron_variant ESAD-UK 4 89448099 89448099 single base substitution T G downstream_gene_variant ESAD-UK 4 89448099 89448099 single base substitution T G intron_variant ESAD-UK 4 89448352 89448352 insertion of <=200bp - TTTCTTTCT downstream_gene_variant ESAD-UK 4 89448352 89448352 insertion of <=200bp - TTTCTTTCT intron_variant ESAD-UK 4 89449576 89449576 deletion of <=200bp T - downstream_gene_variant ESAD-UK 4 89449576 89449576 deletion of <=200bp T - intron_variant ESAD-UK 4 89450594 89450594 single base substitution C A downstream_gene_variant ESAD-UK 4 89450594 89450594 single base substitution C A intron_variant ESAD-UK 4 89451436 89451436 single base substitution G A intron_variant ESAD-UK 4 89452708 89452708 single base substitution G T intron_variant ESAD-UK 4 89454092 89454092 single base substitution C T intron_variant ESAD-UK 4 89459135 89459135 single base substitution T G intron_variant ESAD-UK 4 89459805 89459805 single base substitution C T intron_variant ESAD-UK 4 89459840 89459840 single base substitution G T intron_variant ESAD-UK 4 89459990 89459990 single base substitution G A intron_variant ESAD-UK 4 89460798 89460798 single base substitution G A intron_variant ESAD-UK 4 89462814 89462814 single base substitution G A intron_variant ESAD-UK 4 89463485 89463485 single base substitution A C intron_variant ESAD-UK 4 89465306 89465306 single base substitution T A intron_variant ESAD-UK 4 89466976 89466976 insertion of <=200bp - A intron_variant ESAD-UK 4 89467033 89467033 single base substitution A G intron_variant ESAD-UK 4 89468003 89468003 single base substitution A C intron_variant ESAD-UK 4 89468620 89468620 single base substitution C T intron_variant ESAD-UK 4 89470383 89470383 single base substitution G T intron_variant ESAD-UK 4 89470465 89470465 insertion of <=200bp - T intron_variant ESAD-UK 4 89470472 89470472 single base substitution A T intron_variant ESAD-UK 4 89476725 89476725 single base substitution G C intron_variant ESAD-UK 4 89477840 89477840 single base substitution C T intron_variant ESAD-UK 4 89479122 89479122 single base substitution C T intron_variant ESAD-UK 4 89481308 89481308 single base substitution A G intron_variant ESAD-UK 4 89482543 89482543 single base substitution G T intron_variant ESAD-UK 4 89484967 89484967 single base substitution G A intron_variant ESAD-UK 4 89485016 89485016 single base substitution C T intron_variant ESAD-UK 4 89485125 89485125 insertion of <=200bp - T intron_variant ESAD-UK 4 89492035 89492035 single base substitution G T intron_variant ESAD-UK 4 89492158 89492158 single base substitution C G intron_variant ESAD-UK 4 89493965 89493965 single base substitution A T intron_variant ESAD-UK 4 89494676 89494676 single base substitution A T intron_variant ESAD-UK 4 89496025 89496025 single base substitution T C intron_variant ESAD-UK 4 89497137 89497137 single base substitution T G intron_variant ESAD-UK 4 89497267 89497267 single base substitution C A intron_variant ESAD-UK 4 89497848 89497848 deletion of <=200bp T - intron_variant ESAD-UK 4 89500381 89500381 single base substitution A T intron_variant ESAD-UK 4 89502050 89502050 single base substitution C T intron_variant ESAD-UK 4 89502137 89502137 single base substitution C T intron_variant ESAD-UK 4 89502456 89502456 insertion of <=200bp - T intron_variant ESAD-UK 4 89502776 89502776 single base substitution A T intron_variant ESAD-UK 4 89503009 89503009 insertion of <=200bp - C intron_variant ESAD-UK 4 89504124 89504124 single base substitution C T intron_variant ESAD-UK 4 89507124 89507124 single base substitution T G intron_variant ESAD-UK 4 89509121 89509121 single base substitution C A intron_variant ESAD-UK 4 89509121 89509121 single base substitution C A upstream_gene_variant ESAD-UK 4 89511156 89511156 single base substitution C T intron_variant ESAD-UK 4 89511156 89511156 single base substitution C T upstream_gene_variant ESAD-UK 4 89511759 89511759 single base substitution C G intron_variant ESAD-UK 4 89511759 89511759 single base substitution C G upstream_gene_variant ESAD-UK 4 89513292 89513292 single base substitution T C intron_variant ESAD-UK 4 89513292 89513292 single base substitution T C upstream_gene_variant ESAD-UK 4 89514903 89514903 single base substitution C G intron_variant ESAD-UK 4 89516814 89516814 single base substitution A G intron_variant ESAD-UK 4 89518913 89518913 single base substitution A G intron_variant ESAD-UK 4 89520503 89520503 insertion of <=200bp - T intron_variant ESAD-UK 4 89521241 89521241 single base substitution C G intron_variant ESAD-UK 4 89521560 89521560 deletion of <=200bp T - intron_variant ESAD-UK 4 89522114 89522114 single base substitution A G intron_variant ESAD-UK 4 89522114 89522114 single base substitution A G upstream_gene_variant ESAD-UK 4 89525602 89525602 single base substitution C T intron_variant ESAD-UK 4 89525602 89525602 single base substitution C T upstream_gene_variant ESAD-UK 4 89526253 89526253 single base substitution G T intron_variant ESAD-UK 4 89526253 89526253 single base substitution G T upstream_gene_variant ESAD-UK 4 89527562 89527562 single base substitution G T intron_variant ESAD-UK 4 89527917 89527917 single base substitution C T intron_variant ESAD-UK 4 89528383 89528383 single base substitution A T intron_variant ESAD-UK 4 89529990 89529990 single base substitution G T intron_variant ESAD-UK 4 89530111 89530111 single base substitution T G intron_variant ESAD-UK 4 89533858 89533858 single base substitution C G intron_variant ESAD-UK 4 89543694 89543694 single base substitution C T intron_variant ESAD-UK 4 89544037 89544037 single base substitution G A intron_variant ESAD-UK 4 89544378 89544378 single base substitution G T intron_variant ESAD-UK 4 89545241 89545241 single base substitution C A intron_variant ESAD-UK 4 89547994 89547994 single base substitution A C intron_variant ESAD-UK 4 89548254 89548254 single base substitution T C intron_variant ESAD-UK 4 89549753 89549753 single base substitution C A intron_variant ESAD-UK 4 89549809 89549809 single base substitution T G intron_variant ESAD-UK 4 89549964 89549964 single base substitution G T intron_variant ESAD-UK 4 89549965 89549965 single base substitution A T intron_variant ESAD-UK 4 89550966 89550966 single base substitution A T intron_variant ESAD-UK 4 89550967 89550967 single base substitution G T intron_variant ESAD-UK 4 89553165 89553165 insertion of <=200bp - T intron_variant ESAD-UK 4 89555115 89555115 single base substitution C T intron_variant ESAD-UK 4 89555853 89555853 single base substitution G A intron_variant ESAD-UK 4 89556943 89556943 single base substitution G A intron_variant ESAD-UK 4 89558346 89558346 single base substitution G T intron_variant ESAD-UK 4 89558373 89558373 single base substitution G A intron_variant ESAD-UK 4 89558835 89558836 deletion of <=200bp AG - intron_variant ESAD-UK 4 89558913 89558913 single base substitution G A intron_variant ESAD-UK 4 89561204 89561204 single base substitution C T intron_variant ESAD-UK 4 89561757 89561757 single base substitution A C intron_variant ESAD-UK 4 89567071 89567071 single base substitution G T intron_variant ESAD-UK 4 89567960 89567960 single base substitution G A intron_variant ESAD-UK 4 89572328 89572328 single base substitution G A downstream_gene_variant ESAD-UK 4 89572328 89572328 single base substitution G A intron_variant ESAD-UK 4 89572874 89572874 single base substitution T G downstream_gene_variant ESAD-UK 4 89572874 89572874 single base substitution T G intron_variant ESAD-UK 4 89579168 89579168 single base substitution A T downstream_gene_variant ESAD-UK 4 89579168 89579168 single base substitution A T intron_variant ESAD-UK 4 89579168 89579168 single base substitution A T upstream_gene_variant ESAD-UK 4 89582808 89582808 insertion of <=200bp - T downstream_gene_variant ESAD-UK 4 89582808 89582808 insertion of <=200bp - T intron_variant ESAD-UK 4 89585561 89585561 single base substitution C T intron_variant ESAD-UK 4 89585561 89585561 single base substitution C T upstream_gene_variant ESAD-UK 4 89587338 89587338 single base substitution C T intron_variant ESAD-UK 4 89587338 89587338 single base substitution C T upstream_gene_variant ESAD-UK 4 89587416 89587416 single base substitution G A intron_variant ESAD-UK 4 89587416 89587416 single base substitution G A upstream_gene_variant ESAD-UK 4 89588012 89588012 single base substitution A C intron_variant ESAD-UK 4 89588012 89588012 single base substitution A C upstream_gene_variant ESAD-UK 4 89591551 89591551 single base substitution C G downstream_gene_variant ESAD-UK 4 89591551 89591551 single base substitution C G intron_variant ESAD-UK 4 89592730 89592730 single base substitution A G downstream_gene_variant ESAD-UK 4 89592730 89592730 single base substitution A G intron_variant ESAD-UK 4 89593404 89593404 single base substitution G A downstream_gene_variant ESAD-UK 4 89593404 89593404 single base substitution G A intron_variant ESAD-UK 4 89593956 89593956 single base substitution G A downstream_gene_variant ESAD-UK 4 89593956 89593956 single base substitution G A intron_variant ESAD-UK 4 89595075 89595075 single base substitution C T downstream_gene_variant ESAD-UK 4 89595075 89595075 single base substitution C T intron_variant ESAD-UK 4 89595277 89595277 deletion of <=200bp C - downstream_gene_variant ESAD-UK 4 89595277 89595277 deletion of <=200bp C - intron_variant ESAD-UK 4 89598122 89598122 single base substitution C A intron_variant ESAD-UK 4 89599786 89599786 single base substitution T G intron_variant ESAD-UK 4 89601946 89601946 single base substitution C T intron_variant ESAD-UK 4 89602607 89602607 deletion of <=200bp T - intron_variant ESAD-UK 4 89602824 89602824 single base substitution T G intron_variant ESAD-UK 4 89605296 89605296 single base substitution A T intron_variant ESAD-UK 4 89605698 89605698 single base substitution C T intron_variant ESAD-UK 4 89606207 89606207 single base substitution G T intron_variant ESAD-UK 4 89606612 89606612 single base substitution G A intron_variant ESAD-UK 4 89607790 89607790 single base substitution T G intron_variant ESAD-UK 4 89608029 89608029 single base substitution C A intron_variant ESAD-UK 4 89611050 89611050 single base substitution C T downstream_gene_variant ESAD-UK 4 89611050 89611050 single base substitution C T intron_variant ESAD-UK 4 89613553 89613553 single base substitution G A intron_variant ESAD-UK 4 89616387 89616387 single base substitution G T intron_variant ESAD-UK 4 89616389 89616389 single base substitution T A intron_variant ESAD-UK 4 89618580 89618580 single base substitution T C intron_variant ESAD-UK 4 89619835 89619835 single base substitution A G intron_variant ESAD-UK 4 89620608 89620608 single base substitution A T intron_variant ESAD-UK 4 89623763 89623763 single base substitution T G intron_variant ESAD-UK 4 89624556 89624556 single base substitution C T intron_variant ESAD-UK 4 89624749 89624749 single base substitution G T intron_variant ESAD-UK 4 89625513 89625513 single base substitution C T intron_variant ESAD-UK 4 89629212 89629212 single base substitution G T 3_prime_UTR_variant ESAD-UK 4 89629212 89629212 single base substitution G T downstream_gene_variant ESAD-UK 4 89632486 89632486 single base substitution C T downstream_gene_variant ESAD-UK 4 89634597 89634597 deletion of <=200bp T - downstream_gene_variant ESAD-UK 4 89634662 89634662 single base substitution T A downstream_gene_variant ESCA-CN 4 89577040 89577040 single base substitution C G downstream_gene_variant ESCA-CN 4 89577040 89577040 single base substitution C G missense_variant A308G 923C>G ESCA-CN 4 89577040 89577040 single base substitution C G upstream_gene_variant ESCA-CN 4 89583602 89583602 single base substitution C G intron_variant ESCA-CN 4 89583602 89583602 single base substitution C G missense_variant D389E 1167C>G ESCA-CN 4 89599185 89599185 single base substitution G A missense_variant S143N 428G>A ESCA-CN 4 89599185 89599185 single base substitution G A missense_variant S699N 2096G>A ESCA-CN 4 89599185 89599185 single base substitution G A missense_variant S92N 275G>A ESCA-CN 4 89601261 89601261 single base substitution A T missense_variant E131D 393A>T ESCA-CN 4 89601261 89601261 single base substitution A T missense_variant E182D 546A>T ESCA-CN 4 89601261 89601261 single base substitution A T missense_variant E738D 2214A>T ESCA-CN 4 89614087 89614087 single base substitution G A intron_variant GBM-US 4 89618484 89618486 deletion of <=200bp TCC - intron_variant KIRC-US 4 89577067 89577067 single base substitution A G downstream_gene_variant KIRC-US 4 89577067 89577067 single base substitution A G missense_variant Y317C 950A>G KIRC-US 4 89577067 89577067 single base substitution A G upstream_gene_variant KIRC-US 4 89583638 89583638 single base substitution A C intron_variant KIRC-US 4 89583638 89583638 single base substitution A C missense_variant L401F 1203A>C KIRC-US 4 89583638 89583638 single base substitution A C upstream_gene_variant KIRC-US 4 89607937 89607937 single base substitution T A missense_variant F246Y 737T>A KIRC-US 4 89607937 89607937 single base substitution T A missense_variant F297Y 890T>A KIRC-US 4 89607937 89607937 single base substitution T A missense_variant F853Y 2558T>A KIRP-US 4 89575198 89575198 single base substitution G T downstream_gene_variant KIRP-US 4 89575198 89575198 single base substitution G T stop_gained E231* 691G>T KIRP-US 4 89575198 89575198 single base substitution G T upstream_gene_variant LAML-KR 4 89506669 89506669 single base substitution C T intron_variant LAML-KR 4 89511167 89511167 single base substitution T C intron_variant LAML-KR 4 89511167 89511167 single base substitution T C upstream_gene_variant LAML-KR 4 89571260 89571260 single base substitution A G downstream_gene_variant LAML-KR 4 89571260 89571260 single base substitution A G intron_variant LAML-KR 4 89601277 89601277 single base substitution G A missense_variant G137S 409G>A LAML-KR 4 89601277 89601277 single base substitution G A missense_variant G188S 562G>A LAML-KR 4 89601277 89601277 single base substitution G A missense_variant G744S 2230G>A LAML-KR 4 89610721 89610721 single base substitution A C downstream_gene_variant LAML-KR 4 89610721 89610721 single base substitution A C intron_variant LAML-KR 4 89626018 89626018 single base substitution T C intron_variant LGG-US 4 89583639 89583639 single base substitution A G intron_variant LGG-US 4 89583639 89583639 single base substitution A G missense_variant I402V 1204A>G LGG-US 4 89583639 89583639 single base substitution A G upstream_gene_variant LGG-US 4 89618431 89618433 deletion of <=200bp CCT - intron_variant LICA-CN 4 89591394 89591394 single base substitution A G downstream_gene_variant LICA-CN 4 89591394 89591394 single base substitution A G synonymous_variant Q35Q 105A>G LICA-CN 4 89591394 89591394 single base substitution A G synonymous_variant Q634Q 1902A>G LICA-CN 4 89591394 89591394 single base substitution A G synonymous_variant Q78Q 234A>G LICA-CN 4 89597558 89597558 single base substitution C A missense_variant A114D 341C>A LICA-CN 4 89597558 89597558 single base substitution C A missense_variant A63D 188C>A LICA-CN 4 89597558 89597558 single base substitution C A missense_variant A670D 2009C>A LICA-CN 4 89618625 89618625 single base substitution A G intron_variant LICA-FR 4 89438617 89438617 single base substitution A T upstream_gene_variant LICA-FR 4 89463818 89463818 single base substitution A G intron_variant LICA-FR 4 89494201 89494201 single base substitution G T intron_variant LICA-FR 4 89507495 89507495 insertion of <=200bp - T intron_variant LICA-FR 4 89525674 89525674 single base substitution A G intron_variant LICA-FR 4 89525674 89525674 single base substitution A G upstream_gene_variant LICA-FR 4 89552379 89552379 single base substitution G A intron_variant LICA-FR 4 89575215 89575215 single base substitution A G downstream_gene_variant LICA-FR 4 89575215 89575215 single base substitution A G synonymous_variant V236V 708A>G LICA-FR 4 89575215 89575215 single base substitution A G upstream_gene_variant LICA-FR 4 89606474 89606474 single base substitution A T intron_variant LICA-FR 4 89627996 89627996 single base substitution C T missense_variant P1013L 3038C>T LICA-FR 4 89627996 89627996 single base substitution C T missense_variant P457L 1370C>T LIHC-US 4 89443178 89443178 single base substitution T C exon_variant LIHC-US 4 89443178 89443178 single base substitution T C upstream_gene_variant LIHC-US 4 89591339 89591339 single base substitution A T downstream_gene_variant LIHC-US 4 89591339 89591339 single base substitution A T exon_variant LIHC-US 4 89591339 89591339 single base substitution A T missense_variant E17V 50A>T LIHC-US 4 89591339 89591339 single base substitution A T missense_variant E60V 179A>T LIHC-US 4 89591339 89591339 single base substitution A T missense_variant E616V 1847A>T LINC-JP 4 89442975 89442975 single base substitution T C exon_variant LINC-JP 4 89442975 89442975 single base substitution T C upstream_gene_variant LINC-JP 4 89444800 89444800 single base substitution C T exon_variant LINC-JP 4 89444800 89444800 single base substitution C T upstream_gene_variant LINC-JP 4 89451553 89451553 single base substitution C A intron_variant LINC-JP 4 89473736 89473736 single base substitution G A intron_variant LINC-JP 4 89477974 89477974 single base substitution T A intron_variant LINC-JP 4 89486145 89486145 single base substitution C T intron_variant LINC-JP 4 89501669 89501669 single base substitution T A intron_variant LINC-JP 4 89520366 89520366 single base substitution T A intron_variant LINC-JP 4 89550468 89550468 single base substitution T A intron_variant LINC-JP 4 89553924 89553924 single base substitution T C intron_variant LINC-JP 4 89564723 89564723 single base substitution A G intron_variant LINC-JP 4 89568814 89568814 single base substitution T A intron_variant LINC-JP 4 89576274 89576274 single base substitution G C downstream_gene_variant LINC-JP 4 89576274 89576274 single base substitution G C intron_variant LINC-JP 4 89576274 89576274 single base substitution G C upstream_gene_variant LINC-JP 4 89576277 89576277 single base substitution A G downstream_gene_variant LINC-JP 4 89576277 89576277 single base substitution A G intron_variant LINC-JP 4 89576277 89576277 single base substitution A G upstream_gene_variant LINC-JP 4 89580416 89580416 single base substitution G A downstream_gene_variant LINC-JP 4 89580416 89580416 single base substitution G A intron_variant LINC-JP 4 89583466 89583466 single base substitution C T downstream_gene_variant LINC-JP 4 89583466 89583466 single base substitution C T intron_variant LINC-JP 4 89585332 89585332 single base substitution G A intron_variant LINC-JP 4 89585332 89585332 single base substitution G A missense_variant A434T 1300G>A LINC-JP 4 89585332 89585332 single base substitution G A upstream_gene_variant LINC-JP 4 89618286 89618286 single base substitution T C intron_variant LINC-JP 4 89618479 89618479 single base substitution C A intron_variant LINC-JP 4 89618759 89618779 deletion of <=200bp ACCAGCCGCGCTGTCAGGGTC - intron_variant LINC-JP 4 89622022 89622022 single base substitution A G intron_variant LIRI-JP 4 89441762 89441762 single base substitution A T upstream_gene_variant LIRI-JP 4 89444282 89444282 single base substitution T C intron_variant LIRI-JP 4 89444282 89444282 single base substitution T C upstream_gene_variant LIRI-JP 4 89446022 89446022 single base substitution A G downstream_gene_variant LIRI-JP 4 89446022 89446022 single base substitution A G exon_variant LIRI-JP 4 89446022 89446022 single base substitution A G intron_variant LIRI-JP 4 89450517 89450517 single base substitution A G downstream_gene_variant LIRI-JP 4 89450517 89450517 single base substitution A G intron_variant LIRI-JP 4 89453961 89453961 single base substitution G A intron_variant LIRI-JP 4 89455573 89455573 single base substitution G A intron_variant LIRI-JP 4 89457171 89457171 single base substitution T C intron_variant LIRI-JP 4 89460075 89460075 single base substitution C T intron_variant LIRI-JP 4 89464399 89464399 single base substitution T C intron_variant LIRI-JP 4 89467985 89467985 single base substitution C T intron_variant LIRI-JP 4 89468470 89468470 single base substitution A G intron_variant LIRI-JP 4 89477317 89477317 single base substitution A G intron_variant LIRI-JP 4 89478253 89478253 single base substitution T A intron_variant LIRI-JP 4 89479256 89479256 single base substitution A T intron_variant LIRI-JP 4 89480543 89480543 single base substitution A G intron_variant LIRI-JP 4 89483493 89483493 single base substitution T C intron_variant LIRI-JP 4 89483651 89483651 single base substitution C A intron_variant LIRI-JP 4 89483652 89483652 single base substitution T A intron_variant LIRI-JP 4 89483778 89483778 single base substitution A G intron_variant LIRI-JP 4 89485357 89485357 single base substitution T C intron_variant LIRI-JP 4 89487315 89487315 single base substitution C A intron_variant LIRI-JP 4 89492523 89492523 single base substitution A G intron_variant LIRI-JP 4 89494062 89494062 single base substitution T C intron_variant LIRI-JP 4 89494587 89494587 single base substitution G T intron_variant LIRI-JP 4 89497502 89497502 single base substitution C T intron_variant LIRI-JP 4 89500760 89500760 single base substitution T C intron_variant LIRI-JP 4 89502888 89502888 single base substitution C T intron_variant LIRI-JP 4 89504801 89504801 single base substitution T C intron_variant LIRI-JP 4 89505742 89505742 single base substitution G A intron_variant LIRI-JP 4 89511017 89511017 single base substitution A C intron_variant LIRI-JP 4 89511017 89511017 single base substitution A C upstream_gene_variant LIRI-JP 4 89513693 89513693 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 4 89513693 89513693 single base substitution G T intron_variant LIRI-JP 4 89513693 89513693 single base substitution G T upstream_gene_variant LIRI-JP 4 89514229 89514229 single base substitution A T intron_variant LIRI-JP 4 89514229 89514229 single base substitution A T upstream_gene_variant LIRI-JP 4 89514968 89514968 single base substitution T C intron_variant LIRI-JP 4 89516726 89516726 single base substitution A C 5_prime_UTR_variant LIRI-JP 4 89520254 89520254 single base substitution G T intron_variant LIRI-JP 4 89520639 89520639 single base substitution A T intron_variant LIRI-JP 4 89525349 89525349 single base substitution T A intron_variant LIRI-JP 4 89525349 89525349 single base substitution T A upstream_gene_variant LIRI-JP 4 89526556 89526556 single base substitution G T intron_variant LIRI-JP 4 89526556 89526556 single base substitution G T upstream_gene_variant LIRI-JP 4 89527561 89527561 single base substitution A T intron_variant LIRI-JP 4 89527563 89527563 single base substitution A T intron_variant LIRI-JP 4 89529165 89529165 single base substitution A T intron_variant LIRI-JP 4 89529614 89529614 single base substitution C A intron_variant LIRI-JP 4 89530515 89530515 single base substitution T C intron_variant LIRI-JP 4 89531494 89531494 single base substitution C T intron_variant LIRI-JP 4 89532906 89532906 single base substitution A G intron_variant LIRI-JP 4 89534455 89534455 single base substitution A G intron_variant LIRI-JP 4 89535281 89535281 single base substitution A G intron_variant LIRI-JP 4 89539999 89539999 single base substitution G T intron_variant LIRI-JP 4 89541531 89541531 single base substitution T C intron_variant LIRI-JP 4 89544219 89544219 single base substitution A G intron_variant LIRI-JP 4 89545286 89545286 single base substitution T C intron_variant LIRI-JP 4 89547690 89547690 single base substitution C T intron_variant LIRI-JP 4 89547929 89547929 single base substitution G C intron_variant LIRI-JP 4 89548602 89548602 single base substitution G A intron_variant LIRI-JP 4 89550474 89550474 single base substitution T C intron_variant LIRI-JP 4 89550602 89550602 single base substitution A G intron_variant LIRI-JP 4 89551520 89551520 single base substitution A G intron_variant LIRI-JP 4 89552507 89552507 single base substitution G T intron_variant LIRI-JP 4 89552829 89552829 single base substitution A G intron_variant LIRI-JP 4 89555035 89555035 single base substitution C A intron_variant LIRI-JP 4 89556319 89556319 single base substitution A G intron_variant LIRI-JP 4 89559064 89559064 single base substitution C G intron_variant LIRI-JP 4 89560998 89560998 single base substitution T A intron_variant LIRI-JP 4 89561414 89561414 single base substitution A G intron_variant LIRI-JP 4 89563454 89563454 single base substitution G T intron_variant LIRI-JP 4 89564337 89564337 single base substitution A G intron_variant LIRI-JP 4 89566171 89566171 single base substitution T A intron_variant LIRI-JP 4 89566193 89566193 single base substitution C G intron_variant LIRI-JP 4 89567915 89567915 single base substitution A G intron_variant LIRI-JP 4 89568713 89568713 single base substitution G T intron_variant LIRI-JP 4 89569267 89569267 single base substitution T G intron_variant LIRI-JP 4 89569591 89569591 single base substitution C A intron_variant LIRI-JP 4 89570242 89570242 single base substitution C T intron_variant LIRI-JP 4 89571416 89571416 single base substitution A G downstream_gene_variant LIRI-JP 4 89571416 89571416 single base substitution A G intron_variant LIRI-JP 4 89573239 89573239 insertion of <=200bp - G downstream_gene_variant LIRI-JP 4 89573239 89573239 insertion of <=200bp - G frameshift_variant D155G? LIRI-JP 4 89578606 89578606 single base substitution T A downstream_gene_variant LIRI-JP 4 89578606 89578606 single base substitution T A intron_variant LIRI-JP 4 89578606 89578606 single base substitution T A upstream_gene_variant LIRI-JP 4 89584638 89584638 single base substitution G T intron_variant LIRI-JP 4 89584638 89584638 single base substitution G T upstream_gene_variant LIRI-JP 4 89584696 89584696 single base substitution C A intron_variant LIRI-JP 4 89584696 89584696 single base substitution C A upstream_gene_variant LIRI-JP 4 89591021 89591021 single base substitution G A 5_prime_UTR_variant LIRI-JP 4 89591021 89591021 single base substitution G A downstream_gene_variant LIRI-JP 4 89591021 89591021 single base substitution G A exon_variant LIRI-JP 4 89591021 89591021 single base substitution G A stop_gained W548* 1644G>A LIRI-JP 4 89591021 89591021 single base substitution G A upstream_gene_variant LIRI-JP 4 89591054 89591054 deletion of <=200bp G - downstream_gene_variant LIRI-JP 4 89591054 89591054 deletion of <=200bp G - exon_variant LIRI-JP 4 89591054 89591054 deletion of <=200bp G - frameshift_variant L3 LIRI-JP 4 89591054 89591054 deletion of <=200bp G - frameshift_variant L559 LIRI-JP 4 89591054 89591054 deletion of <=200bp G - upstream_gene_variant LIRI-JP 4 89591370 89591370 single base substitution C T downstream_gene_variant LIRI-JP 4 89591370 89591370 single base substitution C T synonymous_variant D27D 81C>T LIRI-JP 4 89591370 89591370 single base substitution C T synonymous_variant D626D 1878C>T LIRI-JP 4 89591370 89591370 single base substitution C T synonymous_variant D70D 210C>T LIRI-JP 4 89591950 89591950 single base substitution A G downstream_gene_variant LIRI-JP 4 89591950 89591950 single base substitution A G intron_variant LIRI-JP 4 89592303 89592303 single base substitution G A downstream_gene_variant LIRI-JP 4 89592303 89592303 single base substitution G A intron_variant LIRI-JP 4 89593255 89593255 single base substitution A G downstream_gene_variant LIRI-JP 4 89593255 89593255 single base substitution A G intron_variant LIRI-JP 4 89595161 89595161 single base substitution G T downstream_gene_variant LIRI-JP 4 89595161 89595161 single base substitution G T intron_variant LIRI-JP 4 89595407 89595407 single base substitution G A downstream_gene_variant LIRI-JP 4 89595407 89595407 single base substitution G A intron_variant LIRI-JP 4 89596410 89596415 deletion of <=200bp TTTTCT - intron_variant LIRI-JP 4 89600250 89600250 single base substitution C A intron_variant LIRI-JP 4 89600754 89600754 single base substitution T A intron_variant LIRI-JP 4 89608835 89608835 single base substitution C A downstream_gene_variant LIRI-JP 4 89608835 89608835 single base substitution C A intron_variant LIRI-JP 4 89611371 89611371 single base substitution A G downstream_gene_variant LIRI-JP 4 89611371 89611371 single base substitution A G intron_variant LIRI-JP 4 89611502 89611502 single base substitution C A downstream_gene_variant LIRI-JP 4 89611502 89611502 single base substitution C A intron_variant LIRI-JP 4 89611915 89611915 single base substitution T C downstream_gene_variant LIRI-JP 4 89611915 89611915 single base substitution T C intron_variant LIRI-JP 4 89612838 89612838 single base substitution A G downstream_gene_variant LIRI-JP 4 89612838 89612838 single base substitution A G intron_variant LIRI-JP 4 89617051 89617051 single base substitution C T intron_variant LIRI-JP 4 89617729 89617729 single base substitution T A intron_variant LIRI-JP 4 89619275 89619275 single base substitution C T intron_variant LIRI-JP 4 89633508 89633508 single base substitution T A downstream_gene_variant LUSC-KR 4 89440433 89440433 single base substitution C A upstream_gene_variant LUSC-KR 4 89444822 89444822 single base substitution G C exon_variant LUSC-KR 4 89444822 89444822 single base substitution G C upstream_gene_variant LUSC-KR 4 89449015 89449015 single base substitution C A downstream_gene_variant LUSC-KR 4 89449015 89449015 single base substitution C A intron_variant LUSC-KR 4 89450053 89450053 single base substitution A T downstream_gene_variant LUSC-KR 4 89450053 89450053 single base substitution A T intron_variant LUSC-KR 4 89455013 89455013 single base substitution C T intron_variant LUSC-KR 4 89455280 89455280 single base substitution T C intron_variant LUSC-KR 4 89455642 89455642 single base substitution T C intron_variant LUSC-KR 4 89455714 89455714 single base substitution A T intron_variant LUSC-KR 4 89459768 89459768 single base substitution C T intron_variant LUSC-KR 4 89460396 89460396 single base substitution C A intron_variant LUSC-KR 4 89464206 89464206 single base substitution C A intron_variant LUSC-KR 4 89472233 89472233 single base substitution A T intron_variant LUSC-KR 4 89472953 89472953 single base substitution A G intron_variant LUSC-KR 4 89474983 89474983 single base substitution C A intron_variant LUSC-KR 4 89477624 89477624 single base substitution A G intron_variant LUSC-KR 4 89479187 89479187 single base substitution A G intron_variant LUSC-KR 4 89479647 89479647 single base substitution G C intron_variant LUSC-KR 4 89480431 89480431 single base substitution A T intron_variant LUSC-KR 4 89487824 89487824 single base substitution T A intron_variant LUSC-KR 4 89490128 89490128 single base substitution C T intron_variant LUSC-KR 4 89491205 89491205 single base substitution G C intron_variant LUSC-KR 4 89491735 89491735 single base substitution G A intron_variant LUSC-KR 4 89493323 89493323 single base substitution C A intron_variant LUSC-KR 4 89496371 89496371 single base substitution G A intron_variant LUSC-KR 4 89497255 89497255 single base substitution C G intron_variant LUSC-KR 4 89501035 89501035 single base substitution T A intron_variant LUSC-KR 4 89509901 89509901 single base substitution C T intron_variant LUSC-KR 4 89509901 89509901 single base substitution C T upstream_gene_variant LUSC-KR 4 89512509 89512509 single base substitution C A intron_variant LUSC-KR 4 89512509 89512509 single base substitution C A upstream_gene_variant LUSC-KR 4 89519184 89519184 single base substitution G T 5_prime_UTR_variant LUSC-KR 4 89519184 89519184 single base substitution G T intron_variant LUSC-KR 4 89522882 89522882 single base substitution A T intron_variant LUSC-KR 4 89522882 89522882 single base substitution A T upstream_gene_variant LUSC-KR 4 89522883 89522883 single base substitution G T intron_variant LUSC-KR 4 89522883 89522883 single base substitution G T upstream_gene_variant LUSC-KR 4 89525408 89525408 single base substitution G T intron_variant LUSC-KR 4 89525408 89525408 single base substitution G T upstream_gene_variant LUSC-KR 4 89525578 89525578 single base substitution G T intron_variant LUSC-KR 4 89525578 89525578 single base substitution G T upstream_gene_variant LUSC-KR 4 89527323 89527323 single base substitution G A intron_variant LUSC-KR 4 89535157 89535157 single base substitution A T intron_variant LUSC-KR 4 89538560 89538560 single base substitution A G intron_variant LUSC-KR 4 89538631 89538631 single base substitution A G intron_variant LUSC-KR 4 89541777 89541777 single base substitution A T intron_variant LUSC-KR 4 89543718 89543718 single base substitution C G intron_variant LUSC-KR 4 89556216 89556216 single base substitution C T intron_variant LUSC-KR 4 89559033 89559033 single base substitution A T intron_variant LUSC-KR 4 89562384 89562384 single base substitution A G intron_variant LUSC-KR 4 89565098 89565098 single base substitution A G intron_variant LUSC-KR 4 89570668 89570668 single base substitution G T intron_variant LUSC-KR 4 89576581 89576581 single base substitution C T downstream_gene_variant LUSC-KR 4 89576581 89576581 single base substitution C T intron_variant LUSC-KR 4 89576581 89576581 single base substitution C T upstream_gene_variant LUSC-KR 4 89579328 89579328 single base substitution G T downstream_gene_variant LUSC-KR 4 89579328 89579328 single base substitution G T intron_variant LUSC-KR 4 89579328 89579328 single base substitution G T upstream_gene_variant LUSC-KR 4 89584979 89584979 single base substitution T C intron_variant LUSC-KR 4 89584979 89584979 single base substitution T C upstream_gene_variant LUSC-KR 4 89585402 89585402 single base substitution C G intron_variant LUSC-KR 4 89585402 89585402 single base substitution C G upstream_gene_variant LUSC-KR 4 89586291 89586291 single base substitution A T intron_variant LUSC-KR 4 89586291 89586291 single base substitution A T upstream_gene_variant LUSC-KR 4 89594213 89594213 single base substitution G T downstream_gene_variant LUSC-KR 4 89594213 89594213 single base substitution G T intron_variant LUSC-KR 4 89597733 89597733 single base substitution A C intron_variant LUSC-KR 4 89600934 89600934 single base substitution G T intron_variant LUSC-KR 4 89604179 89604179 single base substitution G T intron_variant LUSC-KR 4 89604491 89604491 single base substitution C G intron_variant LUSC-KR 4 89605891 89605891 single base substitution A T intron_variant LUSC-KR 4 89606353 89606353 single base substitution T C intron_variant LUSC-KR 4 89607905 89607905 single base substitution A G synonymous_variant L235L 705A>G LUSC-KR 4 89607905 89607905 single base substitution A G synonymous_variant L286L 858A>G LUSC-KR 4 89607905 89607905 single base substitution A G synonymous_variant L842L 2526A>G LUSC-KR 4 89608225 89608225 single base substitution C T intron_variant LUSC-KR 4 89620227 89620227 single base substitution C T intron_variant LUSC-KR 4 89621607 89621607 single base substitution T G intron_variant LUSC-KR 4 89625427 89625427 single base substitution G C missense_variant E390Q 1168G>C LUSC-KR 4 89625427 89625427 single base substitution G C missense_variant E946Q 2836G>C LUSC-KR 4 89628539 89628539 single base substitution C T 3_prime_UTR_variant LUSC-KR 4 89628539 89628539 single base substitution C T downstream_gene_variant LUSC-KR 4 89628733 89628733 single base substitution T A 3_prime_UTR_variant LUSC-KR 4 89628733 89628733 single base substitution T A downstream_gene_variant LUSC-KR 4 89630012 89630012 single base substitution A C downstream_gene_variant LUSC-US 4 89526980 89526980 single base substitution A G synonymous_variant L2L 6A>G LUSC-US 4 89527029 89527029 single base substitution C A missense_variant Q19K 55C>A LUSC-US 4 89571022 89571022 single base substitution C G downstream_gene_variant LUSC-US 4 89571022 89571022 single base substitution C G missense_variant I86M 258C>G LUSC-US 4 89574024 89574024 single base substitution C G downstream_gene_variant LUSC-US 4 89574024 89574024 single base substitution C G synonymous_variant G156G 468C>G LUSC-US 4 89574214 89574214 single base substitution G A downstream_gene_variant LUSC-US 4 89574214 89574214 single base substitution G A missense_variant G220R 658G>A LUSC-US 4 89591092 89591092 single base substitution G A downstream_gene_variant LUSC-US 4 89591092 89591092 single base substitution G A exon_variant LUSC-US 4 89591092 89591092 single base substitution G A missense_variant R16K 47G>A LUSC-US 4 89591092 89591092 single base substitution G A missense_variant R572K 1715G>A LUSC-US 4 89591092 89591092 single base substitution G A upstream_gene_variant LUSC-US 4 89591352 89591352 single base substitution C T downstream_gene_variant LUSC-US 4 89591352 89591352 single base substitution C T exon_variant LUSC-US 4 89591352 89591352 single base substitution C T synonymous_variant L21L 63C>T LUSC-US 4 89591352 89591352 single base substitution C T synonymous_variant L620L 1860C>T LUSC-US 4 89591352 89591352 single base substitution C T synonymous_variant L64L 192C>T LUSC-US 4 89591400 89591400 single base substitution G T downstream_gene_variant LUSC-US 4 89591400 89591400 single base substitution G T synonymous_variant G37G 111G>T LUSC-US 4 89591400 89591400 single base substitution G T synonymous_variant G636G 1908G>T LUSC-US 4 89591400 89591400 single base substitution G T synonymous_variant G80G 240G>T LUSC-US 4 89618712 89618712 single base substitution G T intron_variant LUSC-US 4 89627996 89627996 single base substitution C T missense_variant P1013L 3038C>T LUSC-US 4 89627996 89627996 single base substitution C T missense_variant P457L 1370C>T MALY-DE 4 89448101 89448101 single base substitution G A downstream_gene_variant MALY-DE 4 89448101 89448101 single base substitution G A intron_variant MALY-DE 4 89457999 89457999 single base substitution G A intron_variant MALY-DE 4 89458819 89458819 single base substitution G A intron_variant MALY-DE 4 89466481 89466481 single base substitution C A intron_variant MALY-DE 4 89475382 89475382 single base substitution A G intron_variant MALY-DE 4 89477975 89477975 single base substitution A T intron_variant MALY-DE 4 89483821 89483821 single base substitution A T intron_variant MALY-DE 4 89487124 89487124 insertion of <=200bp - T intron_variant MALY-DE 4 89488584 89488584 single base substitution G A intron_variant MALY-DE 4 89496967 89496967 single base substitution A G intron_variant MALY-DE 4 89502384 89502384 single base substitution C T intron_variant MALY-DE 4 89502386 89502386 single base substitution T C intron_variant MALY-DE 4 89504332 89504332 single base substitution T C intron_variant MALY-DE 4 89512042 89512042 single base substitution T C intron_variant MALY-DE 4 89512042 89512042 single base substitution T C upstream_gene_variant MALY-DE 4 89516772 89516772 single base substitution T C splice_region_variant MALY-DE 4 89526706 89526706 single base substitution C A intron_variant MALY-DE 4 89526706 89526706 single base substitution C A upstream_gene_variant MALY-DE 4 89528324 89528325 deletion of <=200bp GT - intron_variant MALY-DE 4 89529180 89529180 single base substitution C T intron_variant MALY-DE 4 89533441 89533444 deletion of <=200bp TGTG - intron_variant MALY-DE 4 89533951 89533951 insertion of <=200bp - T intron_variant MALY-DE 4 89535107 89535107 single base substitution G A intron_variant MALY-DE 4 89544980 89544980 single base substitution C T intron_variant MALY-DE 4 89545881 89545881 single base substitution T G intron_variant MALY-DE 4 89560447 89560447 single base substitution C T intron_variant MALY-DE 4 89565611 89565611 single base substitution T G intron_variant MALY-DE 4 89587553 89587553 single base substitution A C intron_variant MALY-DE 4 89587553 89587553 single base substitution A C upstream_gene_variant MALY-DE 4 89587909 89587909 single base substitution A G intron_variant MALY-DE 4 89587909 89587909 single base substitution A G upstream_gene_variant MALY-DE 4 89616304 89616304 single base substitution C T intron_variant MALY-DE 4 89619068 89619068 single base substitution T G intron_variant MALY-DE 4 89619468 89619468 single base substitution G A intron_variant MALY-DE 4 89629286 89629286 single base substitution G A 3_prime_UTR_variant MALY-DE 4 89629286 89629286 single base substitution G A downstream_gene_variant MALY-DE 4 89631735 89631735 single base substitution A G downstream_gene_variant MALY-DE 4 89632943 89632943 single base substitution T C downstream_gene_variant MELA-AU 4 89438601 89438601 single base substitution T A upstream_gene_variant MELA-AU 4 89440342 89440342 single base substitution C A upstream_gene_variant MELA-AU 4 89440408 89440408 single base substitution C T upstream_gene_variant MELA-AU 4 89445410 89445410 single base substitution G A downstream_gene_variant MELA-AU 4 89445410 89445410 single base substitution G A intron_variant MELA-AU 4 89445501 89445501 single base substitution C T downstream_gene_variant MELA-AU 4 89445501 89445501 single base substitution C T intron_variant MELA-AU 4 89445839 89445839 single base substitution G A downstream_gene_variant MELA-AU 4 89445839 89445839 single base substitution G A intron_variant MELA-AU 4 89445897 89445897 single base substitution T A downstream_gene_variant MELA-AU 4 89445897 89445897 single base substitution T A intron_variant MELA-AU 4 89446367 89446367 single base substitution C T downstream_gene_variant MELA-AU 4 89446367 89446367 single base substitution C T intron_variant MELA-AU 4 89447901 89447901 single base substitution C T downstream_gene_variant MELA-AU 4 89447901 89447901 single base substitution C T intron_variant MELA-AU 4 89448149 89448149 single base substitution T C downstream_gene_variant MELA-AU 4 89448149 89448149 single base substitution T C intron_variant MELA-AU 4 89448353 89448353 single base substitution T C downstream_gene_variant MELA-AU 4 89448353 89448353 single base substitution T C intron_variant MELA-AU 4 89449194 89449194 single base substitution C T downstream_gene_variant MELA-AU 4 89449194 89449194 single base substitution C T intron_variant MELA-AU 4 89449300 89449300 single base substitution C T downstream_gene_variant MELA-AU 4 89449300 89449300 single base substitution C T intron_variant MELA-AU 4 89449585 89449585 single base substitution A C downstream_gene_variant MELA-AU 4 89449585 89449585 single base substitution A C intron_variant MELA-AU 4 89449681 89449681 single base substitution C T downstream_gene_variant MELA-AU 4 89449681 89449681 single base substitution C T intron_variant MELA-AU 4 89449835 89449835 single base substitution C G downstream_gene_variant MELA-AU 4 89449835 89449835 single base substitution C G intron_variant MELA-AU 4 89451268 89451268 single base substitution C T intron_variant MELA-AU 4 89452165 89452165 single base substitution C T intron_variant MELA-AU 4 89452310 89452310 single base substitution G A intron_variant MELA-AU 4 89454093 89454093 single base substitution G A intron_variant MELA-AU 4 89454133 89454133 single base substitution G A intron_variant MELA-AU 4 89454385 89454385 single base substitution C T intron_variant MELA-AU 4 89454557 89454557 single base substitution G A intron_variant MELA-AU 4 89454709 89454709 single base substitution C T intron_variant MELA-AU 4 89454966 89454966 single base substitution C T intron_variant MELA-AU 4 89454991 89454991 single base substitution C T intron_variant MELA-AU 4 89455513 89455513 single base substitution C T intron_variant MELA-AU 4 89455972 89455972 single base substitution G A intron_variant MELA-AU 4 89456310 89456311 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 4 89456449 89456449 single base substitution C T intron_variant MELA-AU 4 89456659 89456659 single base substitution C A intron_variant MELA-AU 4 89459028 89459028 single base substitution G A intron_variant MELA-AU 4 89459118 89459118 single base substitution G A intron_variant MELA-AU 4 89459352 89459352 single base substitution C T intron_variant MELA-AU 4 89459390 89459390 single base substitution C T intron_variant MELA-AU 4 89459994 89459994 single base substitution C T intron_variant MELA-AU 4 89460000 89460000 single base substitution C T intron_variant MELA-AU 4 89460003 89460003 single base substitution C T intron_variant MELA-AU 4 89460306 89460306 single base substitution C T intron_variant MELA-AU 4 89460410 89460410 single base substitution G A intron_variant MELA-AU 4 89460507 89460507 single base substitution C T intron_variant MELA-AU 4 89460725 89460725 single base substitution G A intron_variant MELA-AU 4 89461511 89461511 single base substitution A G intron_variant MELA-AU 4 89461854 89461854 single base substitution C T intron_variant MELA-AU 4 89461923 89461923 single base substitution G A intron_variant MELA-AU 4 89461963 89461963 single base substitution C T intron_variant MELA-AU 4 89461989 89461989 single base substitution A T intron_variant MELA-AU 4 89462057 89462057 single base substitution C T intron_variant MELA-AU 4 89462105 89462105 single base substitution G A intron_variant MELA-AU 4 89462157 89462157 single base substitution C T intron_variant MELA-AU 4 89463009 89463009 single base substitution A C intron_variant MELA-AU 4 89463225 89463225 single base substitution G A intron_variant MELA-AU 4 89463374 89463374 single base substitution G A intron_variant MELA-AU 4 89463733 89463733 single base substitution T C intron_variant MELA-AU 4 89463910 89463910 single base substitution C T intron_variant MELA-AU 4 89464019 89464019 single base substitution C T intron_variant MELA-AU 4 89464339 89464339 single base substitution C T intron_variant MELA-AU 4 89464511 89464511 single base substitution C T intron_variant MELA-AU 4 89464529 89464529 single base substitution G A intron_variant MELA-AU 4 89464842 89464842 single base substitution G A intron_variant MELA-AU 4 89464978 89464978 single base substitution C T intron_variant MELA-AU 4 89465185 89465185 single base substitution C T intron_variant MELA-AU 4 89465320 89465320 single base substitution C T intron_variant MELA-AU 4 89465408 89465408 single base substitution G A intron_variant MELA-AU 4 89465463 89465463 single base substitution G A intron_variant MELA-AU 4 89465648 89465648 single base substitution G A intron_variant MELA-AU 4 89465835 89465835 single base substitution G A intron_variant MELA-AU 4 89466229 89466229 single base substitution C T intron_variant MELA-AU 4 89466814 89466814 single base substitution G A intron_variant MELA-AU 4 89466847 89466847 single base substitution G A intron_variant MELA-AU 4 89466956 89466956 single base substitution G A intron_variant MELA-AU 4 89467154 89467154 single base substitution T A intron_variant MELA-AU 4 89467200 89467200 single base substitution C T intron_variant MELA-AU 4 89467358 89467358 single base substitution C T intron_variant MELA-AU 4 89468096 89468096 single base substitution C T intron_variant MELA-AU 4 89468496 89468496 single base substitution G A intron_variant MELA-AU 4 89468641 89468641 single base substitution T A intron_variant MELA-AU 4 89469188 89469188 single base substitution C T intron_variant MELA-AU 4 89469512 89469512 single base substitution T G intron_variant MELA-AU 4 89469524 89469524 single base substitution T A intron_variant MELA-AU 4 89469564 89469564 single base substitution C T intron_variant MELA-AU 4 89469648 89469648 single base substitution C T intron_variant MELA-AU 4 89469655 89469655 single base substitution G A intron_variant MELA-AU 4 89469674 89469674 single base substitution C T intron_variant MELA-AU 4 89469807 89469807 single base substitution C T intron_variant MELA-AU 4 89469932 89469932 single base substitution C T intron_variant MELA-AU 4 89469943 89469943 single base substitution C G intron_variant MELA-AU 4 89470273 89470273 single base substitution C T intron_variant MELA-AU 4 89470345 89470345 single base substitution C T intron_variant MELA-AU 4 89470360 89470361 multiple base substitution (>=2bp and <=200bp) CA AT intron_variant MELA-AU 4 89470621 89470621 single base substitution C T intron_variant MELA-AU 4 89470622 89470622 single base substitution C T intron_variant MELA-AU 4 89470749 89470749 single base substitution G A intron_variant MELA-AU 4 89470881 89470881 single base substitution G C intron_variant MELA-AU 4 89470904 89470904 single base substitution G A intron_variant MELA-AU 4 89470905 89470905 single base substitution G A intron_variant MELA-AU 4 89471123 89471123 single base substitution G A intron_variant MELA-AU 4 89471134 89471134 single base substitution C T intron_variant MELA-AU 4 89471149 89471149 single base substitution G A intron_variant MELA-AU 4 89472434 89472434 single base substitution G A intron_variant MELA-AU 4 89472436 89472436 single base substitution G A intron_variant MELA-AU 4 89473026 89473026 single base substitution G A intron_variant MELA-AU 4 89473275 89473275 single base substitution G A intron_variant MELA-AU 4 89473456 89473456 single base substitution C T intron_variant MELA-AU 4 89473712 89473712 single base substitution C T intron_variant MELA-AU 4 89473975 89473975 single base substitution G A intron_variant MELA-AU 4 89474171 89474171 single base substitution G A intron_variant MELA-AU 4 89474255 89474255 single base substitution G A intron_variant MELA-AU 4 89474398 89474398 single base substitution G A intron_variant MELA-AU 4 89474661 89474661 single base substitution G A intron_variant MELA-AU 4 89474755 89474755 single base substitution C T intron_variant MELA-AU 4 89474887 89474888 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 89474897 89474897 single base substitution C T intron_variant MELA-AU 4 89474922 89474922 single base substitution C T intron_variant MELA-AU 4 89475062 89475062 single base substitution G T intron_variant MELA-AU 4 89475105 89475105 single base substitution T A intron_variant MELA-AU 4 89475263 89475263 single base substitution C T intron_variant MELA-AU 4 89475900 89475900 single base substitution C T intron_variant MELA-AU 4 89476441 89476441 single base substitution A G intron_variant MELA-AU 4 89476545 89476545 single base substitution G A intron_variant MELA-AU 4 89476795 89476795 single base substitution C T intron_variant MELA-AU 4 89476852 89476852 single base substitution A T intron_variant MELA-AU 4 89477028 89477028 single base substitution C T intron_variant MELA-AU 4 89477093 89477093 single base substitution G A intron_variant MELA-AU 4 89477122 89477122 single base substitution G A intron_variant MELA-AU 4 89477135 89477135 single base substitution G A intron_variant MELA-AU 4 89477177 89477177 single base substitution G A intron_variant MELA-AU 4 89477247 89477247 single base substitution C T intron_variant MELA-AU 4 89477880 89477880 single base substitution C T intron_variant MELA-AU 4 89478013 89478013 single base substitution C T intron_variant MELA-AU 4 89478053 89478053 single base substitution C T intron_variant MELA-AU 4 89478241 89478241 single base substitution C T intron_variant MELA-AU 4 89478362 89478362 single base substitution C T intron_variant MELA-AU 4 89478525 89478525 single base substitution T C intron_variant MELA-AU 4 89478597 89478597 single base substitution C T intron_variant MELA-AU 4 89478608 89478608 single base substitution C T intron_variant MELA-AU 4 89478720 89478720 single base substitution G A intron_variant MELA-AU 4 89478752 89478752 single base substitution C T intron_variant MELA-AU 4 89478762 89478762 single base substitution A G intron_variant MELA-AU 4 89479026 89479026 single base substitution G A intron_variant MELA-AU 4 89479104 89479104 single base substitution C T intron_variant MELA-AU 4 89479258 89479258 single base substitution C T intron_variant MELA-AU 4 89479568 89479568 single base substitution A T intron_variant MELA-AU 4 89479905 89479905 single base substitution G A intron_variant MELA-AU 4 89479915 89479915 single base substitution C T intron_variant MELA-AU 4 89479919 89479919 single base substitution C T intron_variant MELA-AU 4 89479959 89479959 single base substitution A T intron_variant MELA-AU 4 89479971 89479971 single base substitution T G intron_variant MELA-AU 4 89481110 89481110 single base substitution G A intron_variant MELA-AU 4 89481488 89481488 single base substitution T A intron_variant MELA-AU 4 89481504 89481504 single base substitution C T intron_variant MELA-AU 4 89481711 89481711 single base substitution C T intron_variant MELA-AU 4 89481892 89481892 single base substitution C T intron_variant MELA-AU 4 89481938 89481938 single base substitution C T intron_variant MELA-AU 4 89482014 89482014 single base substitution C T intron_variant MELA-AU 4 89482238 89482238 single base substitution G A intron_variant MELA-AU 4 89482282 89482282 single base substitution G A intron_variant MELA-AU 4 89482283 89482283 single base substitution G A intron_variant MELA-AU 4 89482442 89482442 single base substitution A G intron_variant MELA-AU 4 89483349 89483349 single base substitution G A intron_variant MELA-AU 4 89483397 89483397 single base substitution C T intron_variant MELA-AU 4 89483511 89483511 single base substitution C T intron_variant MELA-AU 4 89483631 89483631 single base substitution C T intron_variant MELA-AU 4 89483742 89483742 single base substitution G A intron_variant MELA-AU 4 89484248 89484248 single base substitution G A intron_variant MELA-AU 4 89484316 89484316 single base substitution C T intron_variant MELA-AU 4 89484433 89484433 single base substitution T A intron_variant MELA-AU 4 89484507 89484507 single base substitution C T intron_variant MELA-AU 4 89484832 89484832 single base substitution G A intron_variant MELA-AU 4 89485079 89485079 single base substitution G A intron_variant MELA-AU 4 89485105 89485105 single base substitution G A intron_variant MELA-AU 4 89485135 89485135 single base substitution G A intron_variant MELA-AU 4 89485265 89485265 single base substitution C T intron_variant MELA-AU 4 89485267 89485267 single base substitution T A intron_variant MELA-AU 4 89485282 89485282 single base substitution G A intron_variant MELA-AU 4 89485334 89485334 single base substitution C T intron_variant MELA-AU 4 89485735 89485735 single base substitution A G intron_variant MELA-AU 4 89485827 89485827 single base substitution A G intron_variant MELA-AU 4 89486024 89486024 single base substitution C T intron_variant MELA-AU 4 89486107 89486107 single base substitution C T intron_variant MELA-AU 4 89486494 89486494 single base substitution C T intron_variant MELA-AU 4 89487000 89487000 single base substitution C T intron_variant MELA-AU 4 89487217 89487217 single base substitution C T intron_variant MELA-AU 4 89487264 89487264 single base substitution C T intron_variant MELA-AU 4 89487422 89487422 single base substitution G A intron_variant MELA-AU 4 89487662 89487667 deletion of <=200bp CTATTC - intron_variant MELA-AU 4 89488021 89488021 single base substitution G A intron_variant MELA-AU 4 89488095 89488095 single base substitution C T intron_variant MELA-AU 4 89488195 89488195 single base substitution C T intron_variant MELA-AU 4 89488199 89488199 single base substitution C T intron_variant MELA-AU 4 89488604 89488604 single base substitution A G intron_variant MELA-AU 4 89489021 89489021 single base substitution A G intron_variant MELA-AU 4 89489206 89489206 single base substitution G A intron_variant MELA-AU 4 89489265 89489265 single base substitution C T intron_variant MELA-AU 4 89489300 89489300 single base substitution C T intron_variant MELA-AU 4 89489421 89489421 single base substitution C T intron_variant MELA-AU 4 89489503 89489503 single base substitution C T intron_variant MELA-AU 4 89489538 89489538 single base substitution G A intron_variant MELA-AU 4 89489575 89489575 single base substitution G A intron_variant MELA-AU 4 89489582 89489582 single base substitution G A intron_variant MELA-AU 4 89489592 89489592 single base substitution G A intron_variant MELA-AU 4 89489725 89489725 single base substitution C T intron_variant MELA-AU 4 89489847 89489847 single base substitution G A intron_variant MELA-AU 4 89490182 89490182 single base substitution G A intron_variant MELA-AU 4 89490237 89490237 single base substitution A G intron_variant MELA-AU 4 89490278 89490278 single base substitution G A intron_variant MELA-AU 4 89490513 89490513 single base substitution A G intron_variant MELA-AU 4 89490757 89490757 single base substitution G A intron_variant MELA-AU 4 89490765 89490765 single base substitution C T intron_variant MELA-AU 4 89490899 89490899 single base substitution A T intron_variant MELA-AU 4 89491387 89491387 single base substitution G A intron_variant MELA-AU 4 89491663 89491663 single base substitution C T intron_variant MELA-AU 4 89491995 89491995 single base substitution C T intron_variant MELA-AU 4 89492323 89492323 single base substitution G A intron_variant MELA-AU 4 89492663 89492663 single base substitution C T intron_variant MELA-AU 4 89492708 89492708 single base substitution C T intron_variant MELA-AU 4 89492850 89492850 single base substitution C T intron_variant MELA-AU 4 89492997 89492997 single base substitution A G intron_variant MELA-AU 4 89493129 89493129 single base substitution T C intron_variant MELA-AU 4 89493190 89493190 single base substitution G A intron_variant MELA-AU 4 89493752 89493752 single base substitution G A intron_variant MELA-AU 4 89493870 89493870 single base substitution G A intron_variant MELA-AU 4 89494366 89494366 single base substitution C T intron_variant MELA-AU 4 89494604 89494604 single base substitution G A intron_variant MELA-AU 4 89494685 89494685 single base substitution A G intron_variant MELA-AU 4 89494769 89494769 single base substitution A T intron_variant MELA-AU 4 89494796 89494796 single base substitution C T intron_variant MELA-AU 4 89495106 89495106 single base substitution G A intron_variant MELA-AU 4 89495183 89495183 single base substitution G A intron_variant MELA-AU 4 89495351 89495351 single base substitution C T intron_variant MELA-AU 4 89495366 89495366 single base substitution G A intron_variant MELA-AU 4 89495784 89495784 single base substitution T C intron_variant MELA-AU 4 89495999 89495999 single base substitution T C intron_variant MELA-AU 4 89496294 89496294 single base substitution G A intron_variant MELA-AU 4 89497052 89497052 single base substitution G A intron_variant MELA-AU 4 89497460 89497460 single base substitution C T intron_variant MELA-AU 4 89497519 89497519 single base substitution G A intron_variant MELA-AU 4 89497549 89497549 single base substitution C T intron_variant MELA-AU 4 89497670 89497670 single base substitution C T intron_variant MELA-AU 4 89498334 89498334 single base substitution G A intron_variant MELA-AU 4 89498336 89498336 single base substitution A T intron_variant MELA-AU 4 89498849 89498849 single base substitution G A intron_variant MELA-AU 4 89498938 89498938 single base substitution G A intron_variant MELA-AU 4 89499630 89499630 single base substitution G A intron_variant MELA-AU 4 89499662 89499662 single base substitution G A intron_variant MELA-AU 4 89499788 89499788 single base substitution G A intron_variant MELA-AU 4 89500358 89500358 single base substitution C T intron_variant MELA-AU 4 89500491 89500491 single base substitution G A intron_variant MELA-AU 4 89500552 89500552 single base substitution C T intron_variant MELA-AU 4 89500731 89500731 single base substitution G A intron_variant MELA-AU 4 89500745 89500745 single base substitution G A intron_variant MELA-AU 4 89500852 89500852 single base substitution G A intron_variant MELA-AU 4 89500928 89500928 single base substitution G A intron_variant MELA-AU 4 89501105 89501105 single base substitution G A intron_variant MELA-AU 4 89501643 89501643 single base substitution G A intron_variant MELA-AU 4 89501679 89501679 single base substitution G A intron_variant MELA-AU 4 89501810 89501810 single base substitution G A intron_variant MELA-AU 4 89501965 89501965 single base substitution G A intron_variant MELA-AU 4 89502227 89502227 single base substitution G A intron_variant MELA-AU 4 89502319 89502319 single base substitution C T intron_variant MELA-AU 4 89502320 89502320 single base substitution C T intron_variant MELA-AU 4 89502377 89502377 single base substitution T A intron_variant MELA-AU 4 89502677 89502677 single base substitution G A intron_variant MELA-AU 4 89503835 89503835 single base substitution G A intron_variant MELA-AU 4 89503993 89503993 single base substitution A T intron_variant MELA-AU 4 89504371 89504371 single base substitution G A intron_variant MELA-AU 4 89504470 89504470 single base substitution C T intron_variant MELA-AU 4 89505821 89505821 single base substitution C T intron_variant MELA-AU 4 89506421 89506421 single base substitution G A intron_variant MELA-AU 4 89507729 89507729 single base substitution C A intron_variant MELA-AU 4 89508490 89508490 single base substitution G A intron_variant MELA-AU 4 89509092 89509093 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 89509092 89509093 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 89509095 89509096 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 89509095 89509096 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 89509236 89509236 single base substitution G A intron_variant MELA-AU 4 89509236 89509236 single base substitution G A upstream_gene_variant MELA-AU 4 89510046 89510046 single base substitution G A intron_variant MELA-AU 4 89510046 89510046 single base substitution G A upstream_gene_variant MELA-AU 4 89510472 89510472 single base substitution G A intron_variant MELA-AU 4 89510472 89510472 single base substitution G A upstream_gene_variant MELA-AU 4 89511345 89511345 single base substitution G A intron_variant MELA-AU 4 89511345 89511345 single base substitution G A upstream_gene_variant MELA-AU 4 89511524 89511524 single base substitution A G intron_variant MELA-AU 4 89511524 89511524 single base substitution A G upstream_gene_variant MELA-AU 4 89512769 89512769 single base substitution C T intron_variant MELA-AU 4 89512769 89512769 single base substitution C T upstream_gene_variant MELA-AU 4 89513884 89513884 single base substitution C T intron_variant MELA-AU 4 89513884 89513884 single base substitution C T upstream_gene_variant MELA-AU 4 89515005 89515005 single base substitution A G intron_variant MELA-AU 4 89515914 89515914 single base substitution C T intron_variant MELA-AU 4 89517090 89517090 single base substitution C T intron_variant MELA-AU 4 89517221 89517221 single base substitution T A intron_variant MELA-AU 4 89517312 89517312 single base substitution C T intron_variant MELA-AU 4 89517364 89517364 single base substitution G A intron_variant MELA-AU 4 89517940 89517941 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 89518004 89518004 single base substitution C T intron_variant MELA-AU 4 89518667 89518667 single base substitution C T intron_variant MELA-AU 4 89518991 89518991 single base substitution G A intron_variant MELA-AU 4 89518996 89518996 single base substitution C T intron_variant MELA-AU 4 89519481 89519481 single base substitution C T intron_variant MELA-AU 4 89519789 89519789 single base substitution C T intron_variant MELA-AU 4 89519790 89519790 single base substitution C T intron_variant MELA-AU 4 89520165 89520165 single base substitution A G intron_variant MELA-AU 4 89520617 89520617 single base substitution C T intron_variant MELA-AU 4 89524588 89524588 single base substitution C T intron_variant MELA-AU 4 89524588 89524588 single base substitution C T upstream_gene_variant MELA-AU 4 89525373 89525373 single base substitution T C intron_variant MELA-AU 4 89525373 89525373 single base substitution T C upstream_gene_variant MELA-AU 4 89525520 89525520 single base substitution C T intron_variant MELA-AU 4 89525520 89525520 single base substitution C T upstream_gene_variant MELA-AU 4 89527118 89527119 multiple base substitution (>=2bp and <=200bp) CC TT synonymous_variant FL48 MELA-AU 4 89527948 89527948 single base substitution C T intron_variant MELA-AU 4 89528123 89528124 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 4 89528534 89528534 single base substitution C T intron_variant MELA-AU 4 89528877 89528877 single base substitution C T intron_variant MELA-AU 4 89529119 89529119 single base substitution C T intron_variant MELA-AU 4 89529804 89529805 multiple base substitution (>=2bp and <=200bp) TG AT intron_variant MELA-AU 4 89529839 89529839 single base substitution C T intron_variant MELA-AU 4 89531011 89531011 single base substitution C T intron_variant MELA-AU 4 89531460 89531460 single base substitution C T intron_variant MELA-AU 4 89531578 89531578 single base substitution C T intron_variant MELA-AU 4 89531634 89531634 single base substitution C T intron_variant MELA-AU 4 89533244 89533244 single base substitution G C intron_variant MELA-AU 4 89534642 89534642 single base substitution C T intron_variant MELA-AU 4 89535726 89535726 single base substitution G A intron_variant MELA-AU 4 89537767 89537767 single base substitution C T intron_variant MELA-AU 4 89538424 89538424 single base substitution G T intron_variant MELA-AU 4 89538550 89538550 single base substitution T A intron_variant MELA-AU 4 89538551 89538551 single base substitution C T intron_variant MELA-AU 4 89538878 89538878 single base substitution A C intron_variant MELA-AU 4 89539278 89539278 single base substitution G A intron_variant MELA-AU 4 89539854 89539855 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 89540327 89540327 single base substitution C T intron_variant MELA-AU 4 89540891 89540891 single base substitution G A intron_variant MELA-AU 4 89540893 89540893 single base substitution G A intron_variant MELA-AU 4 89541733 89541733 single base substitution C T intron_variant MELA-AU 4 89541774 89541774 single base substitution T C intron_variant MELA-AU 4 89541920 89541920 single base substitution C T intron_variant MELA-AU 4 89542679 89542679 single base substitution G T intron_variant MELA-AU 4 89542689 89542689 single base substitution C T intron_variant MELA-AU 4 89543186 89543186 single base substitution T C intron_variant MELA-AU 4 89543441 89543441 single base substitution C T intron_variant MELA-AU 4 89543702 89543702 single base substitution G A intron_variant MELA-AU 4 89543886 89543886 single base substitution C T intron_variant MELA-AU 4 89544625 89544625 single base substitution G A intron_variant MELA-AU 4 89545316 89545316 single base substitution A T intron_variant MELA-AU 4 89545355 89545355 single base substitution G T intron_variant MELA-AU 4 89545795 89545795 single base substitution C T intron_variant MELA-AU 4 89545812 89545812 single base substitution C T intron_variant MELA-AU 4 89546554 89546554 single base substitution C T intron_variant MELA-AU 4 89546993 89546993 single base substitution T A intron_variant MELA-AU 4 89547187 89547187 single base substitution A T intron_variant MELA-AU 4 89547233 89547233 single base substitution T A intron_variant MELA-AU 4 89547361 89547361 single base substitution C T intron_variant MELA-AU 4 89547907 89547907 single base substitution C T intron_variant MELA-AU 4 89548294 89548294 single base substitution C T intron_variant MELA-AU 4 89548422 89548422 single base substitution C T intron_variant MELA-AU 4 89548775 89548775 single base substitution C T intron_variant MELA-AU 4 89549815 89549815 single base substitution G A intron_variant MELA-AU 4 89550088 89550089 multiple base substitution (>=2bp and <=200bp) GC TT intron_variant MELA-AU 4 89550095 89550095 single base substitution C T intron_variant MELA-AU 4 89551555 89551555 single base substitution T A intron_variant MELA-AU 4 89551981 89551981 single base substitution C T intron_variant MELA-AU 4 89552681 89552681 single base substitution A C intron_variant MELA-AU 4 89552705 89552705 single base substitution T C intron_variant MELA-AU 4 89553172 89553172 single base substitution C T intron_variant MELA-AU 4 89553213 89553213 single base substitution C T intron_variant MELA-AU 4 89553293 89553293 single base substitution C T intron_variant MELA-AU 4 89554981 89554981 single base substitution T C intron_variant MELA-AU 4 89555341 89555341 single base substitution A G intron_variant MELA-AU 4 89555754 89555754 single base substitution C T intron_variant MELA-AU 4 89555896 89555896 single base substitution C T intron_variant MELA-AU 4 89556139 89556139 single base substitution C T intron_variant MELA-AU 4 89556200 89556200 single base substitution G A intron_variant MELA-AU 4 89556381 89556381 single base substitution C T intron_variant MELA-AU 4 89556646 89556646 single base substitution G T intron_variant MELA-AU 4 89556929 89556929 single base substitution C A intron_variant MELA-AU 4 89557560 89557560 single base substitution G A intron_variant MELA-AU 4 89558263 89558263 single base substitution G A intron_variant MELA-AU 4 89559071 89559071 single base substitution C T intron_variant MELA-AU 4 89559073 89559073 single base substitution C T intron_variant MELA-AU 4 89559199 89559199 single base substitution T C intron_variant MELA-AU 4 89559933 89559933 single base substitution G A intron_variant MELA-AU 4 89560402 89560402 single base substitution C T intron_variant MELA-AU 4 89561868 89561868 single base substitution C T intron_variant MELA-AU 4 89561879 89561880 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 4 89562096 89562096 single base substitution A T intron_variant MELA-AU 4 89562098 89562098 single base substitution C T intron_variant MELA-AU 4 89562234 89562234 single base substitution G A intron_variant MELA-AU 4 89562278 89562278 single base substitution C T intron_variant MELA-AU 4 89563760 89563760 single base substitution C T intron_variant MELA-AU 4 89563992 89563992 single base substitution C T intron_variant MELA-AU 4 89564505 89564505 single base substitution C T intron_variant MELA-AU 4 89564874 89564874 single base substitution C T intron_variant MELA-AU 4 89565129 89565129 single base substitution C T intron_variant MELA-AU 4 89565569 89565570 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 89566293 89566293 single base substitution T A intron_variant MELA-AU 4 89566379 89566379 single base substitution G A intron_variant MELA-AU 4 89566771 89566771 single base substitution G A intron_variant MELA-AU 4 89567457 89567457 single base substitution A T intron_variant MELA-AU 4 89568903 89568903 single base substitution C T intron_variant MELA-AU 4 89568937 89568937 single base substitution C T intron_variant MELA-AU 4 89569971 89569971 single base substitution C T intron_variant MELA-AU 4 89570130 89570131 multiple base substitution (>=2bp and <=200bp) TT CC intron_variant MELA-AU 4 89570972 89570972 single base substitution T A intron_variant MELA-AU 4 89571801 89571802 multiple base substitution (>=2bp and <=200bp) TC AT downstream_gene_variant MELA-AU 4 89571801 89571802 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 4 89572471 89572471 single base substitution A T downstream_gene_variant MELA-AU 4 89572471 89572471 single base substitution A T intron_variant MELA-AU 4 89572616 89572616 single base substitution C T downstream_gene_variant MELA-AU 4 89572616 89572616 single base substitution C T intron_variant MELA-AU 4 89573098 89573098 single base substitution A T downstream_gene_variant MELA-AU 4 89573098 89573098 single base substitution A T intron_variant MELA-AU 4 89573505 89573505 single base substitution G A downstream_gene_variant MELA-AU 4 89573505 89573505 single base substitution G A intron_variant MELA-AU 4 89573505 89573506 multiple base substitution (>=2bp and <=200bp) GA AC downstream_gene_variant MELA-AU 4 89573505 89573506 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 4 89574084 89574084 single base substitution C T downstream_gene_variant MELA-AU 4 89574084 89574084 single base substitution C T synonymous_variant P176P 528C>T MELA-AU 4 89574126 89574126 single base substitution C T downstream_gene_variant MELA-AU 4 89574126 89574126 single base substitution C T synonymous_variant I190I 570C>T MELA-AU 4 89574173 89574173 single base substitution C T downstream_gene_variant MELA-AU 4 89574173 89574173 single base substitution C T missense_variant S206F 617C>T MELA-AU 4 89574643 89574643 single base substitution C T downstream_gene_variant MELA-AU 4 89574643 89574643 single base substitution C T intron_variant MELA-AU 4 89574643 89574643 single base substitution C T upstream_gene_variant MELA-AU 4 89575625 89575625 single base substitution A T downstream_gene_variant MELA-AU 4 89575625 89575625 single base substitution A T intron_variant MELA-AU 4 89575625 89575625 single base substitution A T upstream_gene_variant MELA-AU 4 89576130 89576130 single base substitution C T downstream_gene_variant MELA-AU 4 89576130 89576130 single base substitution C T intron_variant MELA-AU 4 89576130 89576130 single base substitution C T upstream_gene_variant MELA-AU 4 89577278 89577278 single base substitution T A 3_prime_UTR_variant MELA-AU 4 89577278 89577278 single base substitution T A downstream_gene_variant MELA-AU 4 89577278 89577278 single base substitution T A intron_variant MELA-AU 4 89577278 89577278 single base substitution T A upstream_gene_variant MELA-AU 4 89577459 89577459 single base substitution T C 3_prime_UTR_variant MELA-AU 4 89577459 89577459 single base substitution T C downstream_gene_variant MELA-AU 4 89577459 89577459 single base substitution T C intron_variant MELA-AU 4 89577459 89577459 single base substitution T C upstream_gene_variant MELA-AU 4 89577581 89577581 single base substitution C T 3_prime_UTR_variant MELA-AU 4 89577581 89577581 single base substitution C T downstream_gene_variant MELA-AU 4 89577581 89577581 single base substitution C T intron_variant MELA-AU 4 89577581 89577581 single base substitution C T upstream_gene_variant MELA-AU 4 89577970 89577970 single base substitution C T 3_prime_UTR_variant MELA-AU 4 89577970 89577970 single base substitution C T downstream_gene_variant MELA-AU 4 89577970 89577970 single base substitution C T intron_variant MELA-AU 4 89577970 89577970 single base substitution C T upstream_gene_variant MELA-AU 4 89578909 89578909 single base substitution C G downstream_gene_variant MELA-AU 4 89578909 89578909 single base substitution C G intron_variant MELA-AU 4 89578909 89578909 single base substitution C G upstream_gene_variant MELA-AU 4 89579225 89579225 single base substitution A T downstream_gene_variant MELA-AU 4 89579225 89579225 single base substitution A T intron_variant MELA-AU 4 89579225 89579225 single base substitution A T upstream_gene_variant MELA-AU 4 89579600 89579600 single base substitution C T 5_prime_UTR_variant MELA-AU 4 89579600 89579600 single base substitution C T downstream_gene_variant MELA-AU 4 89579600 89579600 single base substitution C T exon_variant MELA-AU 4 89579600 89579600 single base substitution C T synonymous_variant F368F 1104C>T MELA-AU 4 89580681 89580681 single base substitution A C downstream_gene_variant MELA-AU 4 89580681 89580681 single base substitution A C intron_variant MELA-AU 4 89581252 89581252 single base substitution C G downstream_gene_variant MELA-AU 4 89581252 89581252 single base substitution C G intron_variant MELA-AU 4 89581822 89581822 single base substitution C T downstream_gene_variant MELA-AU 4 89581822 89581822 single base substitution C T intron_variant MELA-AU 4 89582109 89582109 single base substitution C T downstream_gene_variant MELA-AU 4 89582109 89582109 single base substitution C T intron_variant MELA-AU 4 89582409 89582409 single base substitution G A downstream_gene_variant MELA-AU 4 89582409 89582409 single base substitution G A intron_variant MELA-AU 4 89582791 89582791 single base substitution G A downstream_gene_variant MELA-AU 4 89582791 89582791 single base substitution G A intron_variant MELA-AU 4 89582908 89582908 single base substitution C T downstream_gene_variant MELA-AU 4 89582908 89582908 single base substitution C T intron_variant MELA-AU 4 89583274 89583274 single base substitution G A downstream_gene_variant MELA-AU 4 89583274 89583274 single base substitution G A intron_variant MELA-AU 4 89583368 89583368 single base substitution T C downstream_gene_variant MELA-AU 4 89583368 89583368 single base substitution T C intron_variant MELA-AU 4 89583395 89583395 single base substitution C A downstream_gene_variant MELA-AU 4 89583395 89583395 single base substitution C A intron_variant MELA-AU 4 89583424 89583424 single base substitution G A downstream_gene_variant MELA-AU 4 89583424 89583424 single base substitution G A intron_variant MELA-AU 4 89583737 89583737 single base substitution C T intron_variant MELA-AU 4 89583737 89583737 single base substitution C T upstream_gene_variant MELA-AU 4 89583837 89583837 single base substitution G T intron_variant MELA-AU 4 89583837 89583837 single base substitution G T upstream_gene_variant MELA-AU 4 89584214 89584214 single base substitution C T intron_variant MELA-AU 4 89584214 89584214 single base substitution C T upstream_gene_variant MELA-AU 4 89584238 89584238 single base substitution C T intron_variant MELA-AU 4 89584238 89584238 single base substitution C T upstream_gene_variant MELA-AU 4 89584772 89584772 single base substitution C T intron_variant MELA-AU 4 89584772 89584772 single base substitution C T upstream_gene_variant MELA-AU 4 89585476 89585476 single base substitution T C intron_variant MELA-AU 4 89585476 89585476 single base substitution T C upstream_gene_variant MELA-AU 4 89586063 89586063 single base substitution C T intron_variant MELA-AU 4 89586063 89586063 single base substitution C T upstream_gene_variant MELA-AU 4 89586238 89586238 single base substitution C T intron_variant MELA-AU 4 89586238 89586238 single base substitution C T upstream_gene_variant MELA-AU 4 89586850 89586850 single base substitution C T intron_variant MELA-AU 4 89586850 89586850 single base substitution C T upstream_gene_variant MELA-AU 4 89586985 89586985 single base substitution G A intron_variant MELA-AU 4 89586985 89586985 single base substitution G A upstream_gene_variant MELA-AU 4 89587264 89587264 single base substitution G A intron_variant MELA-AU 4 89587264 89587264 single base substitution G A upstream_gene_variant MELA-AU 4 89587500 89587500 single base substitution T G intron_variant MELA-AU 4 89587500 89587500 single base substitution T G upstream_gene_variant MELA-AU 4 89587646 89587646 single base substitution C A intron_variant MELA-AU 4 89587646 89587646 single base substitution C A upstream_gene_variant MELA-AU 4 89587789 89587789 single base substitution T C intron_variant MELA-AU 4 89587789 89587789 single base substitution T C upstream_gene_variant MELA-AU 4 89588340 89588340 single base substitution G A intron_variant MELA-AU 4 89588340 89588340 single base substitution G A upstream_gene_variant MELA-AU 4 89588643 89588643 single base substitution T C intron_variant MELA-AU 4 89588643 89588643 single base substitution T C splice_region_variant MELA-AU 4 89588643 89588643 single base substitution T C upstream_gene_variant MELA-AU 4 89588689 89588689 single base substitution C T intron_variant MELA-AU 4 89588689 89588689 single base substitution C T upstream_gene_variant MELA-AU 4 89590231 89590231 single base substitution T C downstream_gene_variant MELA-AU 4 89590231 89590231 single base substitution T C intron_variant MELA-AU 4 89590231 89590231 single base substitution T C upstream_gene_variant MELA-AU 4 89591244 89591244 single base substitution C G downstream_gene_variant MELA-AU 4 89591244 89591244 single base substitution C G intron_variant MELA-AU 4 89591244 89591244 single base substitution C G upstream_gene_variant MELA-AU 4 89591735 89591735 single base substitution A T downstream_gene_variant MELA-AU 4 89591735 89591735 single base substitution A T intron_variant MELA-AU 4 89592029 89592029 single base substitution C A downstream_gene_variant MELA-AU 4 89592029 89592029 single base substitution C A intron_variant MELA-AU 4 89592225 89592226 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 89592225 89592226 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 89594625 89594625 single base substitution T A downstream_gene_variant MELA-AU 4 89594625 89594625 single base substitution T A intron_variant MELA-AU 4 89594988 89594988 single base substitution C T downstream_gene_variant MELA-AU 4 89594988 89594988 single base substitution C T intron_variant MELA-AU 4 89595011 89595011 single base substitution C T downstream_gene_variant MELA-AU 4 89595011 89595011 single base substitution C T intron_variant MELA-AU 4 89595020 89595020 single base substitution C T downstream_gene_variant MELA-AU 4 89595020 89595020 single base substitution C T intron_variant MELA-AU 4 89595217 89595217 single base substitution C T downstream_gene_variant MELA-AU 4 89595217 89595217 single base substitution C T intron_variant MELA-AU 4 89595760 89595760 single base substitution G A downstream_gene_variant MELA-AU 4 89595760 89595760 single base substitution G A intron_variant MELA-AU 4 89595762 89595762 single base substitution A T downstream_gene_variant MELA-AU 4 89595762 89595762 single base substitution A T intron_variant MELA-AU 4 89596357 89596357 single base substitution C T intron_variant MELA-AU 4 89597142 89597142 single base substitution T G intron_variant MELA-AU 4 89597597 89597597 single base substitution T C intron_variant MELA-AU 4 89597680 89597680 single base substitution C A intron_variant MELA-AU 4 89597696 89597697 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 4 89598561 89598561 single base substitution G A intron_variant MELA-AU 4 89598979 89598979 single base substitution C T intron_variant MELA-AU 4 89599986 89599986 single base substitution C T intron_variant MELA-AU 4 89600029 89600029 single base substitution C T intron_variant MELA-AU 4 89600050 89600050 single base substitution T A intron_variant MELA-AU 4 89600409 89600409 single base substitution C T intron_variant MELA-AU 4 89601337 89601338 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant G157K 469GG>AA MELA-AU 4 89601337 89601338 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant G208K 622GG>AA MELA-AU 4 89601337 89601338 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant G764K 2290GG>AA MELA-AU 4 89601954 89601954 single base substitution C T intron_variant MELA-AU 4 89602172 89602172 single base substitution C T intron_variant MELA-AU 4 89602661 89602661 single base substitution C T intron_variant MELA-AU 4 89602720 89602720 single base substitution C T intron_variant MELA-AU 4 89604219 89604219 single base substitution G A intron_variant MELA-AU 4 89604350 89604350 single base substitution C T intron_variant MELA-AU 4 89604457 89604457 single base substitution G C intron_variant MELA-AU 4 89604974 89604974 single base substitution C T intron_variant MELA-AU 4 89605280 89605280 single base substitution C T intron_variant MELA-AU 4 89605479 89605479 single base substitution C T intron_variant MELA-AU 4 89605525 89605525 single base substitution C T intron_variant MELA-AU 4 89605527 89605527 single base substitution C T intron_variant MELA-AU 4 89606068 89606068 single base substitution C T intron_variant MELA-AU 4 89606257 89606257 single base substitution A C intron_variant MELA-AU 4 89606317 89606317 single base substitution C T intron_variant MELA-AU 4 89606437 89606437 single base substitution A T intron_variant MELA-AU 4 89607863 89607863 single base substitution C T intron_variant MELA-AU 4 89607965 89607965 single base substitution C T intron_variant MELA-AU 4 89608117 89608117 single base substitution G A intron_variant MELA-AU 4 89609248 89609248 single base substitution G A downstream_gene_variant MELA-AU 4 89609248 89609248 single base substitution G A intron_variant MELA-AU 4 89609651 89609651 single base substitution G A downstream_gene_variant MELA-AU 4 89609651 89609651 single base substitution G A intron_variant MELA-AU 4 89610114 89610114 single base substitution G A downstream_gene_variant MELA-AU 4 89610114 89610114 single base substitution G A intron_variant MELA-AU 4 89611395 89611395 single base substitution C T downstream_gene_variant MELA-AU 4 89611395 89611395 single base substitution C T intron_variant MELA-AU 4 89611497 89611497 single base substitution C T downstream_gene_variant MELA-AU 4 89611497 89611497 single base substitution C T intron_variant MELA-AU 4 89612379 89612379 single base substitution C T downstream_gene_variant MELA-AU 4 89612379 89612379 single base substitution C T intron_variant MELA-AU 4 89612721 89612721 single base substitution G A downstream_gene_variant MELA-AU 4 89612721 89612721 single base substitution G A intron_variant MELA-AU 4 89613022 89613022 single base substitution C G downstream_gene_variant MELA-AU 4 89613022 89613022 single base substitution C G intron_variant MELA-AU 4 89613404 89613404 single base substitution C T downstream_gene_variant MELA-AU 4 89613404 89613404 single base substitution C T intron_variant MELA-AU 4 89614750 89614751 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 4 89615550 89615550 single base substitution C T intron_variant MELA-AU 4 89615760 89615760 single base substitution T G intron_variant MELA-AU 4 89616276 89616292 deletion of <=200bp ATTAAGATAATCATATG - intron_variant MELA-AU 4 89616608 89616608 single base substitution C T intron_variant MELA-AU 4 89618437 89618437 single base substitution C T intron_variant MELA-AU 4 89619196 89619196 single base substitution C T intron_variant MELA-AU 4 89619402 89619402 single base substitution C T intron_variant MELA-AU 4 89619585 89619585 single base substitution G T intron_variant MELA-AU 4 89619846 89619846 single base substitution C T intron_variant MELA-AU 4 89619855 89619855 single base substitution C T intron_variant MELA-AU 4 89620648 89620649 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 4 89620799 89620799 single base substitution G A intron_variant MELA-AU 4 89621065 89621065 single base substitution T C intron_variant MELA-AU 4 89621312 89621312 single base substitution T A intron_variant MELA-AU 4 89621377 89621377 single base substitution C T intron_variant MELA-AU 4 89622074 89622074 single base substitution C T intron_variant MELA-AU 4 89623110 89623111 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 89623608 89623608 single base substitution A G intron_variant MELA-AU 4 89623970 89623970 single base substitution C T intron_variant MELA-AU 4 89624337 89624337 single base substitution C T intron_variant MELA-AU 4 89625196 89625196 single base substitution C T intron_variant MELA-AU 4 89628082 89628082 single base substitution G A missense_variant D1042N 3124G>A MELA-AU 4 89628082 89628082 single base substitution G A missense_variant D486N 1456G>A MELA-AU 4 89629057 89629057 single base substitution C T 3_prime_UTR_variant MELA-AU 4 89629057 89629057 single base substitution C T downstream_gene_variant MELA-AU 4 89629082 89629082 single base substitution C T 3_prime_UTR_variant MELA-AU 4 89629082 89629082 single base substitution C T downstream_gene_variant MELA-AU 4 89629087 89629087 single base substitution C T 3_prime_UTR_variant MELA-AU 4 89629087 89629087 single base substitution C T downstream_gene_variant MELA-AU 4 89629228 89629228 single base substitution C T 3_prime_UTR_variant MELA-AU 4 89629228 89629228 single base substitution C T downstream_gene_variant MELA-AU 4 89629258 89629258 single base substitution T C 3_prime_UTR_variant MELA-AU 4 89629258 89629258 single base substitution T C downstream_gene_variant MELA-AU 4 89629910 89629910 single base substitution G A downstream_gene_variant MELA-AU 4 89630305 89630305 single base substitution G T downstream_gene_variant MELA-AU 4 89631077 89631077 single base substitution C T downstream_gene_variant MELA-AU 4 89631078 89631078 single base substitution C T downstream_gene_variant MELA-AU 4 89631224 89631224 single base substitution G A downstream_gene_variant MELA-AU 4 89631333 89631333 single base substitution C T downstream_gene_variant MELA-AU 4 89631576 89631576 single base substitution C T downstream_gene_variant MELA-AU 4 89631994 89631994 single base substitution C T downstream_gene_variant MELA-AU 4 89631995 89631995 single base substitution G T downstream_gene_variant MELA-AU 4 89632933 89632933 single base substitution C T downstream_gene_variant MELA-AU 4 89633237 89633237 single base substitution C T downstream_gene_variant MELA-AU 4 89633779 89633779 single base substitution C T downstream_gene_variant MELA-AU 4 89634289 89634289 single base substitution C T downstream_gene_variant MELA-AU 4 89634301 89634301 single base substitution C T downstream_gene_variant MELA-AU 4 89634347 89634347 single base substitution C T downstream_gene_variant MELA-AU 4 89634459 89634459 single base substitution G A downstream_gene_variant MELA-AU 4 89634509 89634509 single base substitution G C downstream_gene_variant MELA-AU 4 89634590 89634590 single base substitution C T downstream_gene_variant ORCA-IN 4 89450380 89450380 single base substitution C T downstream_gene_variant ORCA-IN 4 89450380 89450380 single base substitution C T intron_variant ORCA-IN 4 89456886 89456886 single base substitution C T intron_variant ORCA-IN 4 89474104 89474104 single base substitution C T intron_variant ORCA-IN 4 89483659 89483659 single base substitution G C intron_variant ORCA-IN 4 89483921 89483921 single base substitution A G intron_variant ORCA-IN 4 89496878 89496878 single base substitution C G intron_variant ORCA-IN 4 89521159 89521159 single base substitution A G intron_variant ORCA-IN 4 89541670 89541670 single base substitution C G intron_variant ORCA-IN 4 89557869 89557869 single base substitution C G intron_variant ORCA-IN 4 89566521 89566521 single base substitution G A intron_variant ORCA-IN 4 89569336 89569336 single base substitution C G intron_variant ORCA-IN 4 89620675 89620675 single base substitution C A intron_variant OV-AU 4 89448896 89448896 single base substitution G T downstream_gene_variant OV-AU 4 89448896 89448896 single base substitution G T intron_variant OV-AU 4 89457639 89457639 single base substitution C T intron_variant OV-AU 4 89460969 89460969 single base substitution A C intron_variant OV-AU 4 89461897 89461897 single base substitution C G intron_variant OV-AU 4 89462869 89462869 single base substitution T G intron_variant OV-AU 4 89468991 89468991 single base substitution G C intron_variant OV-AU 4 89485089 89485089 single base substitution G A intron_variant OV-AU 4 89505325 89505325 single base substitution C T intron_variant OV-AU 4 89508187 89508187 single base substitution A T intron_variant OV-AU 4 89509878 89509878 single base substitution T C intron_variant OV-AU 4 89509878 89509878 single base substitution T C upstream_gene_variant OV-AU 4 89512817 89512817 single base substitution A G intron_variant OV-AU 4 89512817 89512817 single base substitution A G upstream_gene_variant OV-AU 4 89517986 89517986 single base substitution T C intron_variant OV-AU 4 89533660 89533660 single base substitution G T intron_variant OV-AU 4 89536496 89536496 single base substitution C G intron_variant OV-AU 4 89541549 89541549 single base substitution C T intron_variant OV-AU 4 89547486 89547486 single base substitution C A intron_variant OV-AU 4 89555311 89555311 single base substitution T G intron_variant OV-AU 4 89557529 89557529 single base substitution C A intron_variant OV-AU 4 89558315 89558315 single base substitution G A intron_variant OV-AU 4 89566110 89566110 single base substitution T C intron_variant OV-AU 4 89571462 89571462 single base substitution C G downstream_gene_variant OV-AU 4 89571462 89571462 single base substitution C G intron_variant OV-AU 4 89575229 89575229 single base substitution C T downstream_gene_variant OV-AU 4 89575229 89575229 single base substitution C T missense_variant T241M 722C>T OV-AU 4 89575229 89575229 single base substitution C T upstream_gene_variant OV-AU 4 89583926 89583926 single base substitution T A intron_variant OV-AU 4 89583926 89583926 single base substitution T A upstream_gene_variant OV-AU 4 89586108 89586108 single base substitution C A intron_variant OV-AU 4 89586108 89586108 single base substitution C A upstream_gene_variant OV-AU 4 89586565 89586565 single base substitution C G intron_variant OV-AU 4 89586565 89586565 single base substitution C G upstream_gene_variant OV-AU 4 89599686 89599686 single base substitution T C intron_variant OV-AU 4 89611777 89611777 single base substitution A G downstream_gene_variant OV-AU 4 89611777 89611777 single base substitution A G intron_variant OV-AU 4 89618766 89618766 single base substitution G C intron_variant OV-AU 4 89629116 89629116 single base substitution G T 3_prime_UTR_variant OV-AU 4 89629116 89629116 single base substitution G T downstream_gene_variant PACA-AU 4 89444869 89444869 single base substitution C G exon_variant PACA-AU 4 89444869 89444869 single base substitution C G upstream_gene_variant PACA-AU 4 89447596 89447599 deletion of <=200bp ATTT - downstream_gene_variant PACA-AU 4 89447596 89447599 deletion of <=200bp ATTT - intron_variant PACA-AU 4 89457952 89457952 single base substitution C A intron_variant PACA-AU 4 89464215 89464215 single base substitution C T intron_variant PACA-AU 4 89464557 89464557 single base substitution T A intron_variant PACA-AU 4 89464726 89464726 insertion of <=200bp - A intron_variant PACA-AU 4 89466628 89466628 single base substitution C T intron_variant PACA-AU 4 89469485 89469485 deletion of <=200bp T - intron_variant PACA-AU 4 89470471 89470471 single base substitution T A intron_variant PACA-AU 4 89473257 89473257 deletion of <=200bp G - intron_variant PACA-AU 4 89475298 89475298 single base substitution A G intron_variant PACA-AU 4 89476301 89476301 single base substitution G A intron_variant PACA-AU 4 89477745 89477745 single base substitution C T intron_variant PACA-AU 4 89479992 89479992 single base substitution G A intron_variant PACA-AU 4 89484126 89484126 single base substitution G A intron_variant PACA-AU 4 89489065 89489065 single base substitution A G intron_variant PACA-AU 4 89490794 89490794 single base substitution C T intron_variant PACA-AU 4 89491914 89491917 deletion of <=200bp TTTA - intron_variant PACA-AU 4 89492662 89492662 deletion of <=200bp C - intron_variant PACA-AU 4 89493684 89493684 single base substitution G A intron_variant PACA-AU 4 89498032 89498032 single base substitution A G intron_variant PACA-AU 4 89517985 89517985 single base substitution T C intron_variant PACA-AU 4 89531268 89531268 single base substitution A G intron_variant PACA-AU 4 89546960 89546960 single base substitution G A intron_variant PACA-AU 4 89549876 89549876 single base substitution G A intron_variant PACA-AU 4 89553510 89553510 single base substitution G A intron_variant PACA-AU 4 89581307 89581307 single base substitution C A downstream_gene_variant PACA-AU 4 89581307 89581307 single base substitution C A intron_variant PACA-AU 4 89581623 89581623 single base substitution A G downstream_gene_variant PACA-AU 4 89581623 89581623 single base substitution A G intron_variant PACA-AU 4 89587986 89587986 single base substitution C T intron_variant PACA-AU 4 89587986 89587986 single base substitution C T upstream_gene_variant PACA-AU 4 89588832 89588832 single base substitution A G intron_variant PACA-AU 4 89588832 89588832 single base substitution A G upstream_gene_variant PACA-AU 4 89591629 89591629 single base substitution C T downstream_gene_variant PACA-AU 4 89591629 89591629 single base substitution C T intron_variant PACA-AU 4 89593732 89593732 deletion of <=200bp T - downstream_gene_variant PACA-AU 4 89593732 89593732 deletion of <=200bp T - intron_variant PACA-AU 4 89601009 89601009 single base substitution G T intron_variant PACA-AU 4 89603483 89603483 single base substitution T A intron_variant PACA-AU 4 89607749 89607749 single base substitution C T intron_variant PACA-AU 4 89610520 89610520 single base substitution T C downstream_gene_variant PACA-AU 4 89610520 89610520 single base substitution T C intron_variant PACA-AU 4 89610809 89610809 single base substitution A G downstream_gene_variant PACA-AU 4 89610809 89610809 single base substitution A G intron_variant PACA-AU 4 89618116 89618116 single base substitution T G intron_variant PACA-AU 4 89618275 89618275 single base substitution T C intron_variant PACA-AU 4 89618406 89618406 single base substitution G C intron_variant PACA-AU 4 89621243 89621243 single base substitution T C intron_variant PACA-AU 4 89625584 89625584 single base substitution A G intron_variant PACA-AU 4 89627070 89627070 single base substitution C T intron_variant PACA-AU 4 89628528 89628528 single base substitution G C 3_prime_UTR_variant PACA-AU 4 89628528 89628528 single base substitution G C downstream_gene_variant PACA-AU 4 89633340 89633340 single base substitution T A downstream_gene_variant PACA-CA 4 89442518 89442518 single base substitution A T exon_variant PACA-CA 4 89442518 89442518 single base substitution A T upstream_gene_variant PACA-CA 4 89444754 89444754 single base substitution G A exon_variant PACA-CA 4 89444754 89444754 single base substitution G A upstream_gene_variant PACA-CA 4 89446179 89446179 deletion of <=200bp A - downstream_gene_variant PACA-CA 4 89446179 89446179 deletion of <=200bp A - intron_variant PACA-CA 4 89448187 89448187 single base substitution G C downstream_gene_variant PACA-CA 4 89448187 89448187 single base substitution G C intron_variant PACA-CA 4 89451196 89451196 single base substitution T C intron_variant PACA-CA 4 89452122 89452122 single base substitution T A intron_variant PACA-CA 4 89461490 89461490 single base substitution A G intron_variant PACA-CA 4 89466777 89466777 single base substitution A T intron_variant PACA-CA 4 89470054 89470054 single base substitution C T intron_variant PACA-CA 4 89470472 89470472 single base substitution A T intron_variant PACA-CA 4 89470500 89470500 single base substitution G A intron_variant PACA-CA 4 89471290 89471290 single base substitution A C intron_variant PACA-CA 4 89484029 89484029 single base substitution G A intron_variant PACA-CA 4 89484484 89484484 single base substitution T G intron_variant PACA-CA 4 89492932 89492932 single base substitution T C intron_variant PACA-CA 4 89502458 89502458 single base substitution A T intron_variant PACA-CA 4 89503385 89503385 single base substitution T A intron_variant PACA-CA 4 89503575 89503575 single base substitution C G intron_variant PACA-CA 4 89506497 89506497 single base substitution G A intron_variant PACA-CA 4 89508373 89508373 deletion of <=200bp T - intron_variant PACA-CA 4 89514970 89514970 single base substitution A G intron_variant PACA-CA 4 89515657 89515657 single base substitution C T intron_variant PACA-CA 4 89517545 89517545 single base substitution G A intron_variant PACA-CA 4 89521740 89521740 deletion of <=200bp T - intron_variant PACA-CA 4 89524403 89524403 single base substitution G T intron_variant PACA-CA 4 89524403 89524403 single base substitution G T upstream_gene_variant PACA-CA 4 89529019 89529019 single base substitution T C intron_variant PACA-CA 4 89534442 89534442 single base substitution C T intron_variant PACA-CA 4 89535304 89535304 single base substitution A T intron_variant PACA-CA 4 89538832 89538832 insertion of <=200bp - T intron_variant PACA-CA 4 89539248 89539248 single base substitution C T intron_variant PACA-CA 4 89540196 89540196 single base substitution G T intron_variant PACA-CA 4 89541893 89541893 single base substitution T C intron_variant PACA-CA 4 89544393 89544393 single base substitution C T intron_variant PACA-CA 4 89546374 89546374 single base substitution T C intron_variant PACA-CA 4 89550354 89550354 single base substitution G A intron_variant PACA-CA 4 89552792 89552792 single base substitution C T intron_variant PACA-CA 4 89553720 89553720 single base substitution C T intron_variant PACA-CA 4 89557536 89557536 single base substitution C A intron_variant PACA-CA 4 89559631 89559631 single base substitution A G intron_variant PACA-CA 4 89562362 89562362 single base substitution A G intron_variant PACA-CA 4 89579296 89579296 single base substitution A G downstream_gene_variant PACA-CA 4 89579296 89579296 single base substitution A G intron_variant PACA-CA 4 89579296 89579296 single base substitution A G upstream_gene_variant PACA-CA 4 89581987 89581987 single base substitution G A downstream_gene_variant PACA-CA 4 89581987 89581987 single base substitution G A intron_variant PACA-CA 4 89590058 89590058 insertion of <=200bp - T downstream_gene_variant PACA-CA 4 89590058 89590058 insertion of <=200bp - T intron_variant PACA-CA 4 89590058 89590058 insertion of <=200bp - T upstream_gene_variant PACA-CA 4 89590537 89590537 single base substitution G A downstream_gene_variant PACA-CA 4 89590537 89590537 single base substitution G A intron_variant PACA-CA 4 89590537 89590537 single base substitution G A upstream_gene_variant PACA-CA 4 89595289 89595289 single base substitution G A downstream_gene_variant PACA-CA 4 89595289 89595289 single base substitution G A intron_variant PACA-CA 4 89597816 89597816 single base substitution G T intron_variant PACA-CA 4 89600948 89600948 single base substitution C T intron_variant PACA-CA 4 89601369 89601369 single base substitution C G synonymous_variant L167L 501C>G PACA-CA 4 89601369 89601369 single base substitution C G synonymous_variant L218L 654C>G PACA-CA 4 89601369 89601369 single base substitution C G synonymous_variant L774L 2322C>G PACA-CA 4 89603527 89603527 single base substitution G A intron_variant PACA-CA 4 89606207 89606207 single base substitution G A intron_variant PACA-CA 4 89613258 89613258 single base substitution T G downstream_gene_variant PACA-CA 4 89613258 89613258 single base substitution T G intron_variant PACA-CA 4 89616337 89616337 single base substitution T C intron_variant PACA-CA 4 89616917 89616917 single base substitution C A intron_variant PACA-CA 4 89626154 89626154 single base substitution G T intron_variant PACA-CA 4 89630178 89630178 insertion of <=200bp - AC downstream_gene_variant PACA-CA 4 89633154 89633154 single base substitution A C downstream_gene_variant PAEN-AU 4 89444952 89444963 deletion of <=200bp TGGTCCTCCAGG - 5_prime_UTR_variant PAEN-AU 4 89444952 89444963 deletion of <=200bp TGGTCCTCCAGG - exon_variant PAEN-AU 4 89444952 89444963 deletion of <=200bp TGGTCCTCCAGG - upstream_gene_variant PAEN-AU 4 89450307 89450307 single base substitution C T downstream_gene_variant PAEN-AU 4 89450307 89450307 single base substitution C T intron_variant PAEN-AU 4 89483275 89483275 single base substitution G T intron_variant PAEN-AU 4 89522456 89522456 single base substitution C G intron_variant PAEN-AU 4 89522456 89522456 single base substitution C G upstream_gene_variant PAEN-AU 4 89524708 89524708 single base substitution T G intron_variant PAEN-AU 4 89524708 89524708 single base substitution T G upstream_gene_variant PAEN-AU 4 89589939 89589939 single base substitution G T downstream_gene_variant PAEN-AU 4 89589939 89589939 single base substitution G T intron_variant PAEN-AU 4 89589939 89589939 single base substitution G T upstream_gene_variant PAEN-AU 4 89597179 89597179 single base substitution C A intron_variant PAEN-AU 4 89602295 89602295 single base substitution A G intron_variant PAEN-AU 4 89629032 89629032 single base substitution C G 3_prime_UTR_variant PAEN-AU 4 89629032 89629032 single base substitution C G downstream_gene_variant PAEN-IT 4 89449594 89449594 single base substitution G A downstream_gene_variant PAEN-IT 4 89449594 89449594 single base substitution G A intron_variant PAEN-IT 4 89462154 89462154 single base substitution G T intron_variant PAEN-IT 4 89495722 89495722 single base substitution C T intron_variant PAEN-IT 4 89566736 89566736 single base substitution C A intron_variant PAEN-IT 4 89569229 89569229 single base substitution C A intron_variant PAEN-IT 4 89629002 89629002 single base substitution C T 3_prime_UTR_variant PAEN-IT 4 89629002 89629002 single base substitution C T downstream_gene_variant PBCA-DE 4 89437589 89437590 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 4 89438472 89438472 single base substitution C T upstream_gene_variant PBCA-DE 4 89443190 89443190 insertion of <=200bp - A intron_variant PBCA-DE 4 89443190 89443190 insertion of <=200bp - A upstream_gene_variant PBCA-DE 4 89443582 89443582 single base substitution G A intron_variant PBCA-DE 4 89443582 89443582 single base substitution G A upstream_gene_variant PBCA-DE 4 89445081 89445081 single base substitution C T downstream_gene_variant PBCA-DE 4 89445081 89445081 single base substitution C T splice_region_variant PBCA-DE 4 89449170 89449170 single base substitution T C downstream_gene_variant PBCA-DE 4 89449170 89449170 single base substitution T C intron_variant PBCA-DE 4 89464596 89464596 single base substitution G A intron_variant PBCA-DE 4 89466742 89466742 single base substitution G T intron_variant PBCA-DE 4 89470481 89470481 single base substitution A C intron_variant PBCA-DE 4 89474020 89474020 single base substitution C T intron_variant PBCA-DE 4 89475177 89475177 single base substitution T A intron_variant PBCA-DE 4 89477162 89477162 single base substitution A C intron_variant PBCA-DE 4 89483235 89483235 single base substitution G A intron_variant PBCA-DE 4 89485213 89485213 single base substitution C A intron_variant PBCA-DE 4 89492738 89492738 single base substitution T A intron_variant PBCA-DE 4 89499955 89499955 single base substitution G A intron_variant PBCA-DE 4 89505844 89505844 single base substitution T C intron_variant PBCA-DE 4 89509763 89509763 insertion of <=200bp - T intron_variant PBCA-DE 4 89509763 89509763 insertion of <=200bp - T upstream_gene_variant PBCA-DE 4 89510247 89510248 deletion of <=200bp GT - intron_variant PBCA-DE 4 89510247 89510248 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 4 89514412 89514413 deletion of <=200bp GT - 5_prime_UTR_variant PBCA-DE 4 89514412 89514413 deletion of <=200bp GT - intron_variant PBCA-DE 4 89514412 89514413 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 4 89514876 89514876 single base substitution A T intron_variant PBCA-DE 4 89526637 89526637 single base substitution G C intron_variant PBCA-DE 4 89526637 89526637 single base substitution G C upstream_gene_variant PBCA-DE 4 89528324 89528325 deletion of <=200bp GT - intron_variant PBCA-DE 4 89551380 89551380 single base substitution T C intron_variant PBCA-DE 4 89582808 89582808 insertion of <=200bp - T downstream_gene_variant PBCA-DE 4 89582808 89582808 insertion of <=200bp - T intron_variant PBCA-DE 4 89588858 89588858 single base substitution A G intron_variant PBCA-DE 4 89588858 89588858 single base substitution A G upstream_gene_variant PBCA-DE 4 89605062 89605062 single base substitution C A intron_variant PBCA-DE 4 89605928 89605928 insertion of <=200bp - A intron_variant PBCA-DE 4 89612966 89612966 single base substitution A C downstream_gene_variant PBCA-DE 4 89612966 89612966 single base substitution A C intron_variant PBCA-DE 4 89613641 89613641 single base substitution C T intron_variant PBCA-DE 4 89614368 89614368 single base substitution T A intron_variant PBCA-DE 4 89630508 89630508 single base substitution G T downstream_gene_variant PBCA-DE 4 89632684 89632684 deletion of <=200bp T - downstream_gene_variant PBCA-DE 4 89633580 89633580 single base substitution T C downstream_gene_variant PRAD-CA 4 89450854 89450854 single base substitution G A downstream_gene_variant PRAD-CA 4 89450854 89450854 single base substitution G A intron_variant PRAD-CA 4 89477676 89477676 single base substitution C G intron_variant PRAD-CA 4 89513419 89513419 single base substitution C T intron_variant PRAD-CA 4 89513419 89513419 single base substitution C T upstream_gene_variant PRAD-CA 4 89525740 89525740 single base substitution A G intron_variant PRAD-CA 4 89525740 89525740 single base substitution A G upstream_gene_variant PRAD-CA 4 89535310 89535310 single base substitution G A intron_variant PRAD-CA 4 89562807 89562807 single base substitution G T intron_variant PRAD-CA 4 89570421 89570421 single base substitution A C intron_variant PRAD-CA 4 89578792 89578792 single base substitution A C downstream_gene_variant PRAD-CA 4 89578792 89578792 single base substitution A C intron_variant PRAD-CA 4 89578792 89578792 single base substitution A C upstream_gene_variant PRAD-CA 4 89607653 89607653 single base substitution A G intron_variant PRAD-CA 4 89632585 89632585 single base substitution G T downstream_gene_variant PRAD-UK 4 89437255 89437255 single base substitution G A upstream_gene_variant PRAD-UK 4 89451692 89451692 single base substitution T C intron_variant PRAD-UK 4 89455527 89455527 single base substitution A T intron_variant PRAD-UK 4 89456643 89456643 single base substitution C G intron_variant PRAD-UK 4 89464945 89464945 single base substitution A T intron_variant PRAD-UK 4 89483330 89483330 single base substitution T A intron_variant PRAD-UK 4 89493329 89493329 single base substitution C G intron_variant PRAD-UK 4 89494080 89494080 single base substitution G T intron_variant PRAD-UK 4 89505934 89505934 single base substitution T G intron_variant PRAD-UK 4 89510699 89510699 single base substitution T C intron_variant PRAD-UK 4 89510699 89510699 single base substitution T C upstream_gene_variant PRAD-UK 4 89514783 89514783 single base substitution C A intron_variant PRAD-UK 4 89518749 89518749 single base substitution G C intron_variant PRAD-UK 4 89533951 89533951 insertion of <=200bp - T intron_variant PRAD-UK 4 89539734 89539734 single base substitution G T intron_variant PRAD-UK 4 89571058 89571058 single base substitution C T downstream_gene_variant PRAD-UK 4 89571058 89571058 single base substitution C T synonymous_variant A98A 294C>T PRAD-UK 4 89579166 89579166 single base substitution G T downstream_gene_variant PRAD-UK 4 89579166 89579166 single base substitution G T intron_variant PRAD-UK 4 89579166 89579166 single base substitution G T upstream_gene_variant PRAD-UK 4 89595576 89595576 single base substitution C T downstream_gene_variant PRAD-UK 4 89595576 89595576 single base substitution C T intron_variant PRAD-UK 4 89618310 89618310 single base substitution C G intron_variant PRAD-UK 4 89622904 89622904 insertion of <=200bp - T intron_variant PRAD-US 4 89577167 89577167 single base substitution C T downstream_gene_variant PRAD-US 4 89577167 89577167 single base substitution C T synonymous_variant G350G 1050C>T PRAD-US 4 89577167 89577167 single base substitution C T upstream_gene_variant PRAD-US 4 89618431 89618433 deletion of <=200bp CCT - intron_variant PRAD-US 4 89618484 89618486 deletion of <=200bp TCC - intron_variant READ-US 4 89574045 89574045 single base substitution G T downstream_gene_variant READ-US 4 89574045 89574045 single base substitution G T missense_variant K163N 489G>T READ-US 4 89591099 89591099 single base substitution A G downstream_gene_variant READ-US 4 89591099 89591099 single base substitution A G exon_variant READ-US 4 89591099 89591099 single base substitution A G synonymous_variant R18R 54A>G READ-US 4 89591099 89591099 single base substitution A G synonymous_variant R574R 1722A>G READ-US 4 89591099 89591099 single base substitution A G upstream_gene_variant RECA-EU 4 89457241 89457241 single base substitution T C intron_variant RECA-EU 4 89464542 89464542 single base substitution C A intron_variant RECA-EU 4 89470440 89470440 single base substitution C A intron_variant RECA-EU 4 89487773 89487773 single base substitution A T intron_variant RECA-EU 4 89500839 89500839 single base substitution C T intron_variant RECA-EU 4 89502584 89502584 single base substitution G T intron_variant RECA-EU 4 89523666 89523666 single base substitution T A intron_variant RECA-EU 4 89523666 89523666 single base substitution T A upstream_gene_variant RECA-EU 4 89530314 89530314 single base substitution G T intron_variant RECA-EU 4 89531604 89531604 single base substitution C A intron_variant RECA-EU 4 89532402 89532402 single base substitution T C intron_variant RECA-EU 4 89535741 89535741 single base substitution A G intron_variant RECA-EU 4 89538960 89538960 single base substitution T G intron_variant RECA-EU 4 89541464 89541464 single base substitution A C intron_variant RECA-EU 4 89546771 89546771 single base substitution A C intron_variant RECA-EU 4 89546919 89546919 single base substitution G A intron_variant RECA-EU 4 89554286 89554286 single base substitution A C intron_variant RECA-EU 4 89554328 89554328 single base substitution G A intron_variant RECA-EU 4 89554933 89554933 single base substitution A C intron_variant RECA-EU 4 89571466 89571466 single base substitution A T downstream_gene_variant RECA-EU 4 89571466 89571466 single base substitution A T intron_variant RECA-EU 4 89590963 89590963 single base substitution C T downstream_gene_variant RECA-EU 4 89590963 89590963 single base substitution C T intron_variant RECA-EU 4 89590963 89590963 single base substitution C T upstream_gene_variant SKCA-BR 4 89439539 89439539 single base substitution G A upstream_gene_variant SKCA-BR 4 89450540 89450540 single base substitution C T downstream_gene_variant SKCA-BR 4 89450540 89450540 single base substitution C T intron_variant SKCA-BR 4 89451122 89451122 single base substitution G A downstream_gene_variant SKCA-BR 4 89451122 89451122 single base substitution G A intron_variant SKCA-BR 4 89457749 89457749 single base substitution A C intron_variant SKCA-BR 4 89460354 89460354 single base substitution G A intron_variant SKCA-BR 4 89460512 89460512 single base substitution G A intron_variant SKCA-BR 4 89462086 89462086 single base substitution G A intron_variant SKCA-BR 4 89462121 89462121 single base substitution A C intron_variant SKCA-BR 4 89462319 89462319 single base substitution C T intron_variant SKCA-BR 4 89463281 89463281 single base substitution A C intron_variant SKCA-BR 4 89463582 89463582 single base substitution G A intron_variant SKCA-BR 4 89463706 89463706 single base substitution G A intron_variant SKCA-BR 4 89464014 89464014 single base substitution A T intron_variant SKCA-BR 4 89464463 89464463 single base substitution C T intron_variant SKCA-BR 4 89465078 89465078 single base substitution G A intron_variant SKCA-BR 4 89465667 89465667 single base substitution C T intron_variant SKCA-BR 4 89467139 89467139 single base substitution G A intron_variant SKCA-BR 4 89467817 89467817 single base substitution C T intron_variant SKCA-BR 4 89468751 89468751 single base substitution G A intron_variant SKCA-BR 4 89470223 89470223 single base substitution C T intron_variant SKCA-BR 4 89470796 89470796 single base substitution C T intron_variant SKCA-BR 4 89470816 89470816 single base substitution A T intron_variant SKCA-BR 4 89471681 89471681 single base substitution C T intron_variant SKCA-BR 4 89476469 89476469 single base substitution G A intron_variant SKCA-BR 4 89476746 89476746 single base substitution C T intron_variant SKCA-BR 4 89480139 89480139 single base substitution C G intron_variant SKCA-BR 4 89481479 89481479 single base substitution C T intron_variant SKCA-BR 4 89481748 89481748 single base substitution C T intron_variant SKCA-BR 4 89483218 89483218 single base substitution C T intron_variant SKCA-BR 4 89483219 89483219 single base substitution C T intron_variant SKCA-BR 4 89484482 89484482 single base substitution G A intron_variant SKCA-BR 4 89485632 89485632 single base substitution G A intron_variant SKCA-BR 4 89486681 89486681 single base substitution C T intron_variant SKCA-BR 4 89489333 89489333 single base substitution A C intron_variant SKCA-BR 4 89491680 89491681 deletion of <=200bp GT - intron_variant SKCA-BR 4 89491913 89491921 deletion of <=200bp TTTTATTTA - intron_variant SKCA-BR 4 89491990 89491990 single base substitution C T intron_variant SKCA-BR 4 89493512 89493512 single base substitution C T intron_variant SKCA-BR 4 89493869 89493869 single base substitution G A intron_variant SKCA-BR 4 89494468 89494468 single base substitution T C intron_variant SKCA-BR 4 89495431 89495431 single base substitution C T intron_variant SKCA-BR 4 89495884 89495884 single base substitution G A intron_variant SKCA-BR 4 89499662 89499662 single base substitution G A intron_variant SKCA-BR 4 89499663 89499663 single base substitution G A intron_variant SKCA-BR 4 89501699 89501699 single base substitution T A intron_variant SKCA-BR 4 89502828 89502828 single base substitution C T intron_variant SKCA-BR 4 89505893 89505893 single base substitution G A intron_variant SKCA-BR 4 89507150 89507150 single base substitution G A intron_variant SKCA-BR 4 89507508 89507508 single base substitution C T intron_variant SKCA-BR 4 89508026 89508026 single base substitution G A intron_variant SKCA-BR 4 89512888 89512888 single base substitution T C intron_variant SKCA-BR 4 89512888 89512888 single base substitution T C upstream_gene_variant SKCA-BR 4 89518839 89518839 single base substitution C T intron_variant SKCA-BR 4 89520238 89520238 single base substitution G A intron_variant SKCA-BR 4 89525572 89525572 single base substitution C T intron_variant SKCA-BR 4 89525572 89525572 single base substitution C T upstream_gene_variant SKCA-BR 4 89532682 89532682 single base substitution G A intron_variant SKCA-BR 4 89533440 89533440 insertion of <=200bp - CTGTGTGTGTGTG intron_variant SKCA-BR 4 89535433 89535433 single base substitution G A intron_variant SKCA-BR 4 89537082 89537082 single base substitution C T intron_variant SKCA-BR 4 89547312 89547312 single base substitution C T intron_variant SKCA-BR 4 89549657 89549657 single base substitution G A intron_variant SKCA-BR 4 89550745 89550745 single base substitution C T intron_variant SKCA-BR 4 89553107 89553107 single base substitution C G intron_variant SKCA-BR 4 89554859 89554859 single base substitution C A intron_variant SKCA-BR 4 89557178 89557178 single base substitution A C intron_variant SKCA-BR 4 89560713 89560713 single base substitution C T intron_variant SKCA-BR 4 89564030 89564030 single base substitution C G intron_variant SKCA-BR 4 89564813 89564813 single base substitution G A intron_variant SKCA-BR 4 89564851 89564851 single base substitution G A intron_variant SKCA-BR 4 89567303 89567303 single base substitution G A intron_variant SKCA-BR 4 89573241 89573241 single base substitution T G downstream_gene_variant SKCA-BR 4 89573241 89573241 single base substitution T G splice_donor_variant SKCA-BR 4 89576185 89576185 single base substitution C T downstream_gene_variant SKCA-BR 4 89576185 89576185 single base substitution C T intron_variant SKCA-BR 4 89576185 89576185 single base substitution C T upstream_gene_variant SKCA-BR 4 89584695 89584695 single base substitution C T intron_variant SKCA-BR 4 89584695 89584695 single base substitution C T upstream_gene_variant SKCA-BR 4 89588309 89588309 single base substitution G A intron_variant SKCA-BR 4 89588309 89588309 single base substitution G A upstream_gene_variant SKCA-BR 4 89588310 89588310 single base substitution G A intron_variant SKCA-BR 4 89588310 89588310 single base substitution G A upstream_gene_variant SKCA-BR 4 89591246 89591246 single base substitution C T downstream_gene_variant SKCA-BR 4 89591246 89591246 single base substitution C T intron_variant SKCA-BR 4 89591246 89591246 single base substitution C T upstream_gene_variant SKCA-BR 4 89591584 89591584 single base substitution A G downstream_gene_variant SKCA-BR 4 89591584 89591584 single base substitution A G intron_variant SKCA-BR 4 89597690 89597690 single base substitution C T intron_variant SKCA-BR 4 89602996 89602996 single base substitution T C intron_variant SKCA-BR 4 89604185 89604185 single base substitution A G intron_variant SKCA-BR 4 89604901 89604901 single base substitution C T intron_variant SKCA-BR 4 89610500 89610501 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 4 89610500 89610501 deletion of <=200bp TA - intron_variant SKCA-BR 4 89610683 89610684 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 4 89610683 89610684 deletion of <=200bp CA - intron_variant SKCA-BR 4 89610732 89610732 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 4 89610732 89610732 insertion of <=200bp - CT intron_variant SKCA-BR 4 89619953 89619953 single base substitution T C intron_variant SKCA-BR 4 89625645 89625645 single base substitution T G intron_variant SKCA-BR 4 89626010 89626010 single base substitution C T intron_variant SKCA-BR 4 89627065 89627065 single base substitution C T intron_variant SKCA-BR 4 89632567 89632568 deletion of <=200bp AT - downstream_gene_variant SKCM-US 4 89571022 89571022 single base substitution C T downstream_gene_variant SKCM-US 4 89571022 89571022 single base substitution C T synonymous_variant I86I 258C>T SKCM-US 4 89574082 89574082 single base substitution C T downstream_gene_variant SKCM-US 4 89574082 89574082 single base substitution C T missense_variant P176S 526C>T SKCM-US 4 89574126 89574126 single base substitution C T downstream_gene_variant SKCM-US 4 89574126 89574126 single base substitution C T synonymous_variant I190I 570C>T SKCM-US 4 89576354 89576354 single base substitution T C downstream_gene_variant SKCM-US 4 89576354 89576354 single base substitution T C synonymous_variant G269G 807T>C SKCM-US 4 89576354 89576354 single base substitution T C upstream_gene_variant SKCM-US 4 89579580 89579580 single base substitution C T 5_prime_UTR_variant SKCM-US 4 89579580 89579580 single base substitution C T downstream_gene_variant SKCM-US 4 89579580 89579580 single base substitution C T exon_variant SKCM-US 4 89579580 89579580 single base substitution C T missense_variant H362Y 1084C>T SKCM-US 4 89579585 89579585 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 4 89579585 89579585 single base substitution C T downstream_gene_variant SKCM-US 4 89579585 89579585 single base substitution C T exon_variant SKCM-US 4 89579585 89579585 single base substitution C T synonymous_variant I363I 1089C>T SKCM-US 4 89588561 89588561 single base substitution C T 5_prime_UTR_variant SKCM-US 4 89588561 89588561 single base substitution C T exon_variant SKCM-US 4 89588561 89588561 single base substitution C T synonymous_variant I455I 1365C>T SKCM-US 4 89588561 89588561 single base substitution C T upstream_gene_variant SKCM-US 4 89588562 89588562 single base substitution C T 5_prime_UTR_variant SKCM-US 4 89588562 89588562 single base substitution C T exon_variant SKCM-US 4 89588562 89588562 single base substitution C T missense_variant P456S 1366C>T SKCM-US 4 89588562 89588562 single base substitution C T upstream_gene_variant SKCM-US 4 89591116 89591116 single base substitution C T downstream_gene_variant SKCM-US 4 89591116 89591116 single base substitution C T exon_variant SKCM-US 4 89591116 89591116 single base substitution C T missense_variant P24L 71C>T SKCM-US 4 89591116 89591116 single base substitution C T missense_variant P580L 1739C>T SKCM-US 4 89591116 89591116 single base substitution C T upstream_gene_variant SKCM-US 4 89599133 89599133 single base substitution A C missense_variant N126H 376A>C SKCM-US 4 89599133 89599133 single base substitution A C missense_variant N682H 2044A>C SKCM-US 4 89599133 89599133 single base substitution A C missense_variant N75H 223A>C SKCM-US 4 89601295 89601295 deletion of <=200bp T - frameshift_variant F143 SKCM-US 4 89601295 89601295 deletion of <=200bp T - frameshift_variant F194 SKCM-US 4 89601295 89601295 deletion of <=200bp T - frameshift_variant F750 SKCM-US 4 89608440 89608440 single base substitution A T stop_gained K276* 826A>T SKCM-US 4 89608440 89608440 single base substitution A T stop_gained K327* 979A>T SKCM-US 4 89608440 89608440 single base substitution A T stop_gained K883* 2647A>T SKCM-US 4 89618461 89618461 single base substitution C T intron_variant SKCM-US 4 89618484 89618486 deletion of <=200bp TCC - intron_variant SKCM-US 4 89618588 89618588 single base substitution T C intron_variant SKCM-US 4 89627995 89627995 single base substitution C T missense_variant P1013S 3037C>T SKCM-US 4 89627995 89627995 single base substitution C T missense_variant P457S 1369C>T SKCM-US 4 89628082 89628082 single base substitution G A missense_variant D1042N 3124G>A SKCM-US 4 89628082 89628082 single base substitution G A missense_variant D486N 1456G>A STAD-US 4 89571095 89571095 single base substitution G A downstream_gene_variant STAD-US 4 89571095 89571095 single base substitution G A missense_variant G111R 331G>A STAD-US 4 89574214 89574214 single base substitution G A downstream_gene_variant STAD-US 4 89574214 89574214 single base substitution G A missense_variant G220R 658G>A STAD-US 4 89577147 89577147 single base substitution T C downstream_gene_variant STAD-US 4 89577147 89577147 single base substitution T C missense_variant Y344H 1030T>C STAD-US 4 89577147 89577147 single base substitution T C upstream_gene_variant STAD-US 4 89585357 89585357 deletion of <=200bp A - frameshift_variant E442 STAD-US 4 89585357 89585357 deletion of <=200bp A - intron_variant STAD-US 4 89585357 89585357 deletion of <=200bp A - upstream_gene_variant STAD-US 4 89588548 89588548 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 4 89588548 89588548 single base substitution C T exon_variant STAD-US 4 89588548 89588548 single base substitution C T missense_variant T451M 1352C>T STAD-US 4 89588548 89588548 single base substitution C T upstream_gene_variant STAD-US 4 89588627 89588627 single base substitution G T 5_prime_UTR_variant STAD-US 4 89588627 89588627 single base substitution G T exon_variant STAD-US 4 89588627 89588627 single base substitution G T missense_variant M477I 1431G>T STAD-US 4 89588627 89588627 single base substitution G T upstream_gene_variant STAD-US 4 89589160 89589160 single base substitution T C exon_variant STAD-US 4 89589160 89589160 single base substitution T C intron_variant STAD-US 4 89589160 89589160 single base substitution T C missense_variant Y521H 1561T>C STAD-US 4 89589160 89589160 single base substitution T C upstream_gene_variant STAD-US 4 89608434 89608434 single base substitution G A missense_variant V274M 820G>A STAD-US 4 89608434 89608434 single base substitution G A missense_variant V325M 973G>A STAD-US 4 89608434 89608434 single base substitution G A missense_variant V881M 2641G>A STAD-US 4 89618768 89618768 single base substitution G A intron_variant STAD-US 4 89628027 89628029 deletion of <=200bp CCT - inframe_deletion DL1023D STAD-US 4 89628027 89628029 deletion of <=200bp CCT - inframe_deletion DL467D THCA-SA 4 89442595 89442595 single base substitution C A exon_variant THCA-SA 4 89442595 89442595 single base substitution C A upstream_gene_variant THCA-SA 4 89617387 89617387 single base substitution A G intron_variant THCA-SA 4 89618837 89618837 single base substitution T C intron_variant THCA-SA 4 89625427 89625427 single base substitution G C missense_variant E390Q 1168G>C THCA-SA 4 89625427 89625427 single base substitution G C missense_variant E946Q 2836G>C THCA-SA 4 89628242 89628242 single base substitution G T 3_prime_UTR_variant THCA-SA 4 89628559 89628559 single base substitution G A 3_prime_UTR_variant THCA-SA 4 89628559 89628559 single base substitution G A downstream_gene_variant THCA-SA 4 89628733 89628733 single base substitution T A 3_prime_UTR_variant THCA-SA 4 89628733 89628733 single base substitution T A downstream_gene_variant THCA-SA 4 89629000 89629000 single base substitution A G 3_prime_UTR_variant THCA-SA 4 89629000 89629000 single base substitution A G downstream_gene_variant THCA-SA 4 89631029 89631029 single base substitution A G downstream_gene_variant UCEC-US 4 89443161 89443161 single base substitution C T exon_variant UCEC-US 4 89443161 89443161 single base substitution C T upstream_gene_variant UCEC-US 4 89526975 89526975 single base substitution A C initiator_codon_variant M1L 1A>C UCEC-US 4 89527012 89527012 single base substitution G T missense_variant G13V 38G>T UCEC-US 4 89527178 89527178 single base substitution T C synonymous_variant H68H 204T>C UCEC-US 4 89574117 89574117 single base substitution G A downstream_gene_variant UCEC-US 4 89574117 89574117 single base substitution G A synonymous_variant L187L 561G>A UCEC-US 4 89574207 89574207 single base substitution T C downstream_gene_variant UCEC-US 4 89574207 89574207 single base substitution T C synonymous_variant N217N 651T>C UCEC-US 4 89574213 89574213 single base substitution C T downstream_gene_variant UCEC-US 4 89574213 89574213 single base substitution C T synonymous_variant A219A 657C>T UCEC-US 4 89575229 89575229 single base substitution C T downstream_gene_variant UCEC-US 4 89575229 89575229 single base substitution C T missense_variant T241M 722C>T UCEC-US 4 89575229 89575229 single base substitution C T upstream_gene_variant UCEC-US 4 89577183 89577183 single base substitution G T downstream_gene_variant UCEC-US 4 89577183 89577183 single base substitution G T missense_variant A356S 1066G>T UCEC-US 4 89577183 89577183 single base substitution G T upstream_gene_variant UCEC-US 4 89579630 89579630 single base substitution C T 5_prime_UTR_variant UCEC-US 4 89579630 89579630 single base substitution C T downstream_gene_variant UCEC-US 4 89579630 89579630 single base substitution C T exon_variant UCEC-US 4 89579630 89579630 single base substitution C T synonymous_variant C378C 1134C>T UCEC-US 4 89588600 89588600 single base substitution G T 5_prime_UTR_variant UCEC-US 4 89588600 89588600 single base substitution G T exon_variant UCEC-US 4 89588600 89588600 single base substitution G T missense_variant E468D 1404G>T UCEC-US 4 89588600 89588600 single base substitution G T upstream_gene_variant UCEC-US 4 89597576 89597576 single base substitution T C splice_donor_variant UCEC-US 4 89599113 89599113 single base substitution A G splice_acceptor_variant UCEC-US 4 89599188 89599188 single base substitution C A missense_variant P144H 431C>A UCEC-US 4 89599188 89599188 single base substitution C A missense_variant P700H 2099C>A UCEC-US 4 89599188 89599188 single base substitution C A missense_variant P93H 278C>A UCEC-US 4 89599229 89599229 single base substitution G T missense_variant D107Y 319G>T UCEC-US 4 89599229 89599229 single base substitution G T missense_variant D158Y 472G>T UCEC-US 4 89599229 89599229 single base substitution G T missense_variant D714Y 2140G>T UCEC-US 4 89601316 89601316 single base substitution G T stop_gained E150* 448G>T UCEC-US 4 89601316 89601316 single base substitution G T stop_gained E201* 601G>T UCEC-US 4 89601316 89601316 single base substitution G T stop_gained E757* 2269G>T UCEC-US 4 89601364 89601364 single base substitution A C missense_variant N166H 496A>C UCEC-US 4 89601364 89601364 single base substitution A C missense_variant N217H 649A>C UCEC-US 4 89601364 89601364 single base substitution A C missense_variant N773H 2317A>C UCEC-US 4 89618444 89618444 single base substitution C G intron_variant UCEC-US 4 89618474 89618474 single base substitution G A intron_variant UCEC-US 4 89618520 89618520 single base substitution C A intron_variant UCEC-US 4 89618726 89618726 single base substitution C A intron_variant UCEC-US 4 89618760 89618760 single base substitution C A intron_variant UCEC-US 4 89625758 89625758 single base substitution C A missense_variant L425I 1273C>A UCEC-US 4 89625758 89625758 single base substitution C A missense_variant L981I 2941C>A UCEC-US 4 89628072 89628072 single base substitution C A synonymous_variant T1038T 3114C>A UCEC-US 4 89628072 89628072 single base substitution C A synonymous_variant T482T 1446C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CLL041 COSM1291985 c.1516A>G p.I506V Substitution - Missense 4:88667964-88667964 + TCGA-HU-A4GQ-01 COSM735341 c.658G>A p.G220R Substitution - Missense 4:88653063-88653063 + TCGA-AN-A046-01 COSM3826428 c.2976C>A p.I992I Substitution - coding silent 4:88706783-88706783 + LS411 COSM2957602 c.1235delA p.K413fs*48 Deletion - Frameshift 4:88662519-88662519 + TCGA-AX-A0J0-01 COSM1058851 c.2269G>T p.E757* Substitution - Nonsense 4:88680165-88680165 + TCGA-AP-A0LM-01 COSM1058841 c.651T>C p.N217N Substitution - coding silent 4:88653056-88653056 + TCGA-CZ-5468-01 COSM481675 c.2558T>A p.F853Y Substitution - Missense 4:88686786-88686786 + TCGA-CJ-4635-01 COSM3365737 c.1203A>C p.L401F Substitution - Missense 4:88662487-88662487 + T3509 COSM4690137 c.2115C>T p.H705H Substitution - coding silent 4:88678053-88678053 + T2197 COSM4690129 c.764C>T p.A255V Substitution - Missense 4:88654120-88654120 + 587342 COSM1209596 c.1724A>G p.K575R Substitution - Missense 4:88669950-88669950 + TCGA-B5-A0JZ-01 COSM1058849 c.2099C>A p.P700H Substitution - Missense 4:88678037-88678037 + TCGA-AX-A05Z-01 COSM1058858 c.2941C>A p.L981I Substitution - Missense 4:88704607-88704607 + TCGA-F5-6814-01 COSM3428760 c.489G>T p.K163N Substitution - Missense 4:88652894-88652894 + LUAD-F00162 COSM366476 c.1315A>T p.S439C Substitution - Missense 4:88664196-88664196 + 66 COSM4777969 c.1674G>T p.K558N Substitution - Missense 4:88669900-88669900 + SNU-C4 COSM4653851 c.2244G>A p.K748K Substitution - coding silent 4:88680140-88680140 + TCGA-AX-A05Y-01 COSM1058838 c.204T>C p.H68H Substitution - coding silent 4:88606027-88606027 + TCGA-GN-A266-06 COSM3606946 c.2647A>T p.K883* Substitution - Nonsense 4:88687289-88687289 + TCGA-ER-A19H-06 COSM3606948 c.3037C>T p.P1013S Substitution - Missense 4:88706844-88706844 + TCGA-D1-A101-01 COSM1058843 c.722C>T p.T241M Substitution - Missense 4:88654078-88654078 + T2950 COSM4690127 c.591C>T p.A197A Substitution - coding silent 4:88652996-88652996 + TCGA-39-5022-01 COSM735341 c.658G>A p.G220R Substitution - Missense 4:88653063-88653063 + sysucc-773T COSM5460337 c.1629A>G p.V543V Substitution - coding silent 4:88668077-88668077 + AOCS-150-8-X COSM1058843 c.722C>T p.T241M Substitution - Missense 4:88654078-88654078 + PT19_2 COSM5899981 c.2918C>T p.P973L Substitution - Missense 4:88704584-88704584 + ESO-165 COSM1254136 c.2826G>A p.W942* Substitution - Nonsense 4:88704266-88704266 + TARGET-30-PAPUWY COSM1285358 c.279G>T p.E93D Substitution - Missense 4:88649892-88649892 + TCGA-66-2759-01 COSM735340 c.1715G>A p.R572K Substitution - Missense 4:88669941-88669941 + 100615 COSM94458 c.814G>A p.G272R Substitution - Missense 4:88655210-88655210 + TCGA-AO-A1KR-01 COSM1486161 c.940G>A p.G314R Substitution - Missense 4:88655906-88655906 + TCGA-AP-A059-01 COSM1058844 c.1066G>T p.A356S Substitution - Missense 4:88656032-88656032 + MO_1012 COSM5570364 c.2382C>A p.T794T Substitution - coding silent 4:88681200-88681200 + TCGA-CA-6717-01 COSM1431699 c.367G>A p.D123N Substitution - Missense 4:88649980-88649980 + TCGA-D3-A51T-06 COSM3606940 c.1366C>T p.P456S Substitution - Missense 4:88667411-88667411 + SNUH_G16_S1 COSM4003185 c.2526A>G p.L842L Substitution - coding silent 4:88686754-88686754 + CSCC-4-T COSM4471729 c.1738C>T p.P580S Substitution - Missense 4:88669964-88669964 + TCGA-36-2547-01 COSM1328351 c.968C>G p.A323G Substitution - Missense 4:88655934-88655934 + TCGA-AG-3892-01 COSM257108 c.2135T>C p.V712A Substitution - Missense 4:88678073-88678073 + ESCC-006T COSM3940980 c.923C>G p.A308G Substitution - Missense 4:88655889-88655889 + TCGA-CS-5396-01 COSM3975088 c.1204A>G p.I402V Substitution - Missense 4:88662488-88662488 + TCGA-BR-6452-01 COSM4126680 c.1030T>C p.Y344H Substitution - Missense 4:88655996-88655996 + TCGA-29-1775-01 COSM1328350 c.2868G>A p.S956S Substitution - coding silent 4:88704534-88704534 + WA18 COSM237497 c.2340G>C p.T780T Substitution - coding silent 4:88680236-88680236 + CSCC-29-T COSM4568760 c.1303T>G p.C435G Substitution - Missense 4:88664184-88664184 + T3090 COSM4690135 c.2076G>A p.L692L Substitution - coding silent 4:88678014-88678014 + RK308_C01 COSM3768050 c.1644G>A p.W548* Substitution - Nonsense 4:88669870-88669870 + 051 COSM145476 c.566G>A p.G189E Substitution - Missense 4:88652971-88652971 + TCGA-ER-A2NG-06 COSM3606938 c.1365C>T p.I455I Substitution - coding silent 4:88667410-88667410 + TCGA-AP-A0LG-01 COSM1058842 c.657C>T p.A219A Substitution - coding silent 4:88653062-88653062 + TCGA-AX-A063-01 COSM1058848 c.2026-2A>G p.? Unknown 4:88677962-88677962 + TCGA-AP-A051-01 COSM1058837 c.38G>T p.G13V Substitution - Missense 4:88605861-88605861 + TCGA-D1-A103-01 COSM1058836 c.1A>C p.M1L Substitution - Missense 4:88605824-88605824 + T3021 COSM4690133 c.2065C>A p.L689I Substitution - Missense 4:88678003-88678003 + ZZUFHECRKL-G072T COSM5432912 c.1167C>G p.D389E Substitution - Missense 4:88662451-88662451 + Pat_26_A COSM5866935 c.301G>A p.D101N Substitution - Missense 4:88649914-88649914 + PT42 COSM1431699 c.367G>A p.D123N Substitution - Missense 4:88649980-88649980 + D10 COSM5007022 c.95C>G p.S32C Substitution - Missense 4:88605918-88605918 + TCGA-EE-A3AA-06 COSM3606932 c.570C>T p.I190I Substitution - coding silent 4:88652975-88652975 + TCGA-66-2800-01 COSM735338 c.1908G>T p.G636G Substitution - coding silent 4:88670249-88670249 + PTC-7C COSM4159298 c.2553G>A p.E851E Substitution - coding silent 4:88686781-88686781 + TCGA-DY-A1DC-01 COSM1567207 c.1722A>G p.R574R Substitution - coding silent 4:88669948-88669948 + HCC086T COSM5813236 c.1902A>G p.Q634Q Substitution - coding silent 4:88670243-88670243 + 12-P8001 COSM4585288 c.534A>G p.Q178Q Substitution - coding silent 4:88652939-88652939 + 1T COSM106569 c.2974A>T p.I992F Substitution - Missense 4:88706781-88706781 + CN-AML-CR-20-Dx COSM5426957 c.2230G>A p.G744S Substitution - Missense 4:88680126-88680126 + TCGA-39-5037-01 COSM735344 c.55C>A p.Q19K Substitution - Missense 4:88605878-88605878 + TCGA-EB-A24D-01 COSM3606928 c.258C>T p.I86I Substitution - coding silent 4:88649871-88649871 + NB-2074 COSM1285357 c.99C>T p.D33D Substitution - coding silent 4:88605922-88605922 + TCGA-CZ-5464-01 COSM481673 c.1209T>C p.N403N Substitution - coding silent 4:88662493-88662493 + TCGA-A6-6653-01 COSM1431700 c.720C>T p.R240R Substitution - coding silent 4:88654076-88654076 + T2643 COSM4690121 c.143T>A p.F48Y Substitution - Missense 4:88605966-88605966 + sysucc-880T COSM5463367 c.276C>T p.G92G Substitution - coding silent 4:88649889-88649889 + TCGA-AX-A05Z-01 COSM1058852 c.2317A>C p.N773H Substitution - Missense 4:88680213-88680213 + PT35 COSM5912091 c.2941C>T p.L981F Substitution - Missense 4:88704607-88704607 + LUAD-NYU184 COSM370873 c.2335G>T p.D779Y Substitution - Missense 4:88680231-88680231 + ccRCC-54 COSM1662126 c.175G>T p.G59C Substitution - Missense 4:88605998-88605998 + TCGA-C5-A1ML-01 COSM4837561 c.3099G>T p.L1033L Substitution - coding silent 4:88706906-88706906 + TCGA-BS-A0UV-01 COSM1058847 c.2025+2T>C p.? Unknown 4:88676425-88676425 + TCGA-EE-A29L-06 COSM3606950 c.3124G>A p.D1042N Substitution - Missense 4:88706931-88706931 + TCGA-HU-A4GT-01 COSM4126684 c.1431G>T p.M477I Substitution - Missense 4:88667476-88667476 + TCGA-CG-4442-01 COSM4126686 c.1561T>C p.Y521H Substitution - Missense 4:88668009-88668009 + TCGA-CZ-5986-01 COSM481672 c.950A>G p.Y317C Substitution - Missense 4:88655916-88655916 + TCGA-AA-3542-01 COSM292018 c.2054A>T p.N685I Substitution - Missense 4:88677992-88677992 + CHEWS028 COSM4585286 c.148C>T p.L50L Substitution - coding silent 4:88605971-88605971 + 587238 COSM1209595 c.1594G>A p.A532T Substitution - Missense 4:88668042-88668042 + T3090 COSM4424361 c.1659G>A p.P553P Substitution - coding silent 4:88669885-88669885 + MD-290 COSM302363 c.1861G>A p.V621M Substitution - Missense 4:88670202-88670202 + TCGA-18-3409-01 COSM735336 c.3038C>T p.P1013L Substitution - Missense 4:88706845-88706845 + TCGA-D9-A148-06 COSM3606942 c.1739C>T p.P580L Substitution - Missense 4:88669965-88669965 + 0058_CRUK_PC_0058_T1_DNA COSM5420626 c.294C>T p.A98A Substitution - coding silent 4:88649907-88649907 + TCGA-G4-6304-01 COSM1431702 c.2416G>A p.D806N Substitution - Missense 4:88681234-88681234 + CHC793T COSM735336 c.3038C>T p.P1013L Substitution - Missense 4:88706845-88706845 + 388 COSM3606936 c.1089C>T p.I363I Substitution - coding silent 4:88658434-88658434 + TCGA-QB-A6FS-06 COSM3918332 c.1084C>T p.H362Y Substitution - Missense 4:88658429-88658429 + TCGA-18-3409-01 COSM735339 c.1860C>T p.L620L Substitution - coding silent 4:88670201-88670201 + 587376 COSM1209597 c.978A>C p.Q326H Substitution - Missense 4:88655944-88655944 + TCGA-BR-8591-01 COSM4126677 c.331G>A p.G111R Substitution - Missense 4:88649944-88649944 + PT37 COSM5918439 c.1654T>C p.C552R Substitution - Missense 4:88669880-88669880 + CSCC-31-T COSM4530424 c.1699G>A p.V567I Substitution - Missense 4:88669925-88669925 + TCGA-CG-5721-01 COSM4126688 c.2641G>A p.V881M Substitution - Missense 4:88687283-88687283 + ESCC_BICR_048T COSM5432374 c.2214A>T p.E738D Substitution - Missense 4:88680110-88680110 + CSCC-27-T COSM4476989 c.2110C>T p.L704F Substitution - Missense 4:88678048-88678048 + TCGA-AX-A05Z-01 COSM1058846 c.1404G>T p.E468D Substitution - Missense 4:88667449-88667449 + TCGA-D3-A2JP-06 COSM3606936 c.1089C>T p.I363I Substitution - coding silent 4:88658434-88658434 + TCGA-AP-A0LM-01 COSM1058845 c.1134C>T p.C378C Substitution - coding silent 4:88658479-88658479 + HCC2998 COSM1058858 c.2941C>A p.L981I Substitution - Missense 4:88704607-88704607 + TCGA-G7-7501-01 COSM3993852 c.691G>T p.E231* Substitution - Nonsense 4:88654047-88654047 + CHC451T COSM4957283 c.708A>G p.V236V Substitution - coding silent 4:88654064-88654064 + TCGA-66-2758-01 COSM735342 c.468C>G p.G156G Substitution - coding silent 4:88652873-88652873 + HCC2998 COSM1058858 c.2941C>A p.L981I Substitution - Missense 4:88704607-88704607 + TCGA-39-5028-01 COSM735343 c.258C>G p.I86M Substitution - Missense 4:88649871-88649871 + 102022 COSM94457 c.283C>T p.H95Y Substitution - Missense 4:88649896-88649896 + HCT8 COSM4635171 c.876G>T p.M292I Substitution - Missense 4:88655272-88655272 + TCGA-AX-A062-01 COSM1058840 c.561G>A p.L187L Substitution - coding silent 4:88652966-88652966 + 214 COSM4424361 c.1659G>A p.P553P Substitution - coding silent 4:88669885-88669885 + LUAD-E00918 COSM365280 c.829G>T p.D277Y Substitution - Missense 4:88655225-88655225 + 417 COSM4431728 c.1169T>A p.F390Y Substitution - Missense 4:88662453-88662453 + TCGA-FW-A3R5-06 COSM3606930 c.526C>T p.P176S Substitution - Missense 4:88652931-88652931 + SW48 COSM4656410 c.2874A>G p.T958T Substitution - coding silent 4:88704540-88704540 + U2940 COSM5620951 c.2362T>G p.F788V Substitution - Missense 4:88681180-88681180 + cSCCP7 COSM139530 c.1705T>C p.Y569H Substitution - Missense 4:88669931-88669931 + TCGA-CA-6717-01 COSM1058851 c.2269G>T p.E757* Substitution - Nonsense 4:88680165-88680165 + TCGA-AP-A0LM-01 COSM1058850 c.2140G>T p.D714Y Substitution - Missense 4:88678078-88678078 + CHC451T COSM4957283 c.708A>G p.V236V Substitution - coding silent 4:88654064-88654064 + SC_9104 COSM5426957 c.2230G>A p.G744S Substitution - Missense 4:88680126-88680126 + Pat_06_A COSM5866938 c.3023G>A p.G1008E Substitution - Missense 4:88706830-88706830 + TCGA-22-4599-01 COSM735345 c.6A>G p.L2L Substitution - coding silent 4:88605829-88605829 + PT19_2 COSM5899979 c.1312G>T p.G438* Substitution - Nonsense 4:88664193-88664193 + MD-329 COSM302364 c.3106C>A p.R1036R Substitution - coding silent 4:88706913-88706913 + TCGA-GN-A26C-01 COSM3606944 c.2044A>C p.N682H Substitution - Missense 4:88677982-88677982 + HX27T COSM3661254 c.1300G>A p.A434T Substitution - Missense 4:88664181-88664181 + K347 COSM249536 c.1366C>A p.P456T Substitution - Missense 4:88667411-88667411 + T2269 COSM4690125 c.452C>T p.A151V Substitution - Missense 4:88652077-88652077 + CHEWS001 COSM4585290 c.835A>G p.M279V Substitution - Missense 4:88655231-88655231 + TCGA-AG-A002-01 COSM261278 c.1659delG p.K554fs*4 Deletion - Frameshift 4:88669885-88669885 + TCGA-B7-5818-01 COSM4126682 c.1352C>T p.T451M Substitution - Missense 4:88667397-88667397 + T207 COSM4690131 c.1943T>C p.V648A Substitution - Missense 4:88676341-88676341 + TCGA-23-1029-01 COSM1328352 c.694T>A p.S232T Substitution - Missense 4:88654050-88654050 + CLL126 COSM1291984 c.534_562del29 p.A179fs*30 Deletion - Frameshift 4:88652939-88652967 + LC_C8 COSM1186614 c.693A>C p.E231D Substitution - Missense 4:88654049-88654049 + PT52 COSM5939253 c.2339C>T p.T780M Substitution - Missense 4:88680235-88680235 + Pat_24_A COSM5866933 c.128G>A p.G43E Substitution - Missense 4:88605951-88605951 + TCGA-EE-A3J5-06 COSM3606934 c.807T>C p.G269G Substitution - coding silent 4:88655203-88655203 + CHC793T COSM735336 c.3038C>T p.P1013L Substitution - Missense 4:88706845-88706845 + SNUH_G16_S1 COSM4003187 c.2836G>C p.E946Q Substitution - Missense 4:88704276-88704276 + TCGA-AA-3715-01 COSM269306 c.753A>C p.E251D Substitution - Missense 4:88654109-88654109 + T2944 COSM4690123 c.372T>G p.S124S Substitution - coding silent 4:88649985-88649985 + ICC005T COSM5808781 c.2009C>A p.A670D Substitution - Missense 4:88676407-88676407 + TCGA-AD-6889-01 COSM1431701 c.1911+2T>C p.? Unknown 4:88670254-88670254 + TCGA-KK-A59V-01 COSM4878078 c.1050C>T p.G350G Substitution - coding silent 4:88656016-88656016 + 051-0099-05TD COSM145476 c.566G>A p.G189E Substitution - Missense 4:88652971-88652971 + 1920_T COSM3946660 c.645G>T p.G215G Substitution - coding silent 4:88653050-88653050 + TCGA-BG-A0MQ-01 COSM1058859 c.3114C>A p.T1038T Substitution - coding silent 4:88706921-88706921 + PD4205a COSM161515 c.1072C>T p.R358C Substitution - Missense 4:88658417-88658417 + RK098_C01 COSM1633840 c.1878C>T p.D626D Substitution - coding silent 4:88670219-88670219 + RKO COSM2957620 c.2468G>A p.G823D Substitution - Missense 4:88681286-88681286 + TCGA-DD-A11A-01 COSM4940496 c.1847A>T p.E616V Substitution - Missense 4:88670188-88670188 + ESO-005 COSM1254135 c.2581C>T p.R861* Substitution - Nonsense 4:88687223-88687223 + TCGA-AZ-4615-01 COSM3760830 c.1017T>C p.S339S Substitution - coding silent 4:88655983-88655983 + 112032 COSM94459 c.1496C>G p.P499R Substitution - Missense 4:88667944-88667944 + ESCC_BICR_045T COSM5441739 c.2096G>A p.S699N Substitution - Missense 4:88678034-88678034 + TCGA-ER-A194-01 COSM3606930 c.526C>T p.P176S Substitution - Missense 4:88652931-88652931 + S00829 COSM5660094 c.509G>C p.G170A Substitution - Missense 4:88652914-88652914 + TCGA-D1-A176-01 COSM1058839 c.331G>T p.G111W Substitution - Missense 4:88649944-88649944 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.35804 4q21 605200

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L401F c.1203A>C 4 89583638 RCCC A C Missense p.N682H c.2044A>C 4 89599133 CM AGCCAGCCCACAGAGGGTGAGGTCCCTGG - Frameshift p.Q178Rfs*31 c.533_561delAAGCCAGCCCACAGAGGGTGAGGTCCCTG 4 89574089 CLL A G Missense p.D848G c.2543A>G 4 89607922 HNSC A G Missense p.I402V c.1204A>G 4 89583639 LGG A G Missense p.I506V c.1516A>G 4 89589115 CLL A G Missense p.Y317C c.950A>G 4 89577067 RCCC A G SpliceAcceptorSNV . c.2026-2A>G 4 89599113 UCEC A G Synonymous p.L2L c.6A>G 4 89526980 LUSC A T Missense p.N685I c.2054A>T 4 89599143 COREAD C A Missense p.P700H c.2099C>A 4 89599188 UCEC C A Missense p.Q19K c.55C>A 4 89527029 LUSC C A Missense p.T985K c.2954C>A 4 89627912 HNSC C A Synonymous p.P845P c.2535C>A 4 89607914 LUAD C A Synonymous p.T1038T c.3114C>A 4 89628072 UCEC C G Missense p.I86M c.258C>G 4 89571022 LUSC C G Missense p.Q26E c.76C>G 4 89527050 CM C G Nonsense p.S415* c.1244C>G 4 89583679 HNSC C G Synonymous p.G156G c.468C>G 4 89574024 LUSC C T Missense p.P1013S c.3037C>T 4 89627995 CM C T Missense p.P176S c.526C>T 4 89574082 CM C T Missense p.P233S c.697C>T 4 89575204 CM C T Missense p.P580L c.1739C>T 4 89591116 CM C T Missense p.R358C c.1072C>T 4 89579568 BRCA C T Missense p.R358C c.1072C>T 4 89579568 COREAD C T Missense p.S415L c.1244C>T 4 89583679 HNSC C T Missense p.T241M c.722C>T 4 89575229 UCEC C T Missense p.T451M c.1352C>T 4 89588548 STAD C T Nonsense p.R861* c.2581C>T 4 89608374 ESCA C T Synonymous p.A219A c.657C>T 4 89574213 UCEC C T Synonymous p.A661A c.1983C>T 4 89597532 BRCA C T Synonymous p.D33D c.99C>T 4 89527073 NB C T Synonymous p.D626D c.1878C>T 4 89591370 HC C T Synonymous p.I190I c.570C>T 4 89574126 CM C T Synonymous p.I363I c.1089C>T 4 89579585 CM C T Synonymous p.I455I c.1365C>T 4 89588561 CM C T Synonymous p.I86I c.258C>T 4 89571022 CM C T Synonymous p.L414L c.1242C>T 4 89583677 HNSC C T Synonymous p.L516L c.1548C>T 4 89589147 CM G A IntronicSNV . c.2945-11G>A 4 89627892 STAD G A Missense p.C552Y c.1655G>A 4 89591032 HNSC G A Missense p.D1042N c.3124G>A 4 89628082 CM G A Missense p.E888K c.2662G>A 4 89625253 CM G A Missense p.G189E c.566G>A 4 89574122 CLL G A Missense p.G220R c.658G>A 4 89574214 LUSC G A Missense p.G314R c.940G>A 4 89577057 BRCA G A Missense p.R572K c.1715G>A 4 89591092 LUSC G A Nonsense p.W942* c.2826G>A 4 89625417 ESCA G A Synonymous p.L187L c.561G>A 4 89574117 UCEC G C SpliceAcceptorSNV . c.778-1G>C 4 89576324 LUAD - G Frameshift p.N164Efs*55 c.485dupG 4 89574038 LUAD G T Missense p.A193S c.577G>T 4 89574133 LUAD G T Missense p.E93D c.279G>T 4 89571043 NB G T Synonymous p.G636G c.1908G>T 4 89591400 LUSC T A Missense p.F853Y c.2558T>A 4 89607937 RCCC T A Missense p.L105Q c.314T>A 4 89571078 CM T C Synonymous p.G269G c.807T>C 4 89576354 CM T C Synonymous p.H68H c.204T>C 4 89527178 UCEC T - Frameshift p.L752Ffs*4 c.2253delT 4 89601295 CM T G Missense p.S107A c.319T>G 4 89571083 CM