Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 42396763 42396763 + Silent SNP C C T TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr2:42396763C>T c.12C>T c.(10-12)ttC>ttT p.F4F BLCA 2 42472672 42472672 + Missense_Mutation SNP C C A TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr2:42472672C>A c.53C>A c.(52-54)tCt>tAt p.S18Y BLCA 2 42488301 42488301 + Nonsense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:42488301G>T c.379G>T c.(379-381)Gaa>Taa p.E127* BLCA 2 42490329 42490329 + Missense_Mutation SNP C C T TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr2:42490329C>T c.524C>T c.(523-525)cCa>cTa p.P175L BLCA 2 42513428 42513428 + Missense_Mutation SNP G G C TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr2:42513428G>C c.1031G>C c.(1030-1032)aGa>aCa p.R344T BLCA 2 42522291 42522291 + Silent SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr2:42522291G>A c.1245G>A c.(1243-1245)gtG>gtA p.V415V BLCA 2 42543133 42543133 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr2:42543133C>T c.1999C>T c.(1999-2001)Cta>Tta p.L667L BLCA 2 42543170 42543170 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr2:42543170C>T c.2036C>T c.(2035-2037)tCt>tTt p.S679F BLCA 2 42552634 42552634 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr2:42552634G>C c.2182G>C c.(2182-2184)Gac>Cac p.D728H BLCA 2 42556041 42556041 + Missense_Mutation SNP G G T TCGA-LC-A66R-01A-41D-A30E-08 TCGA-LC-A66R-10A-01D-A30H-08 g.chr2:42556041G>T c.2357G>T c.(2356-2358)gGa>gTa p.G786V BRCA 2 42472741 42472742 + Frame_Shift_Ins INS - - A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 g.chr2:42472741_42472742insA c.122_123insA c.(121-126)ctaaagfs p.LK41fs BRCA 2 42472824 42472824 + Nonsense_Mutation SNP A A T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 g.chr2:42472824A>T c.205A>T c.(205-207)Aaa>Taa p.K69* BRCA 2 42530295 42530295 + Nonsense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr2:42530295C>T c.1693C>T c.(1693-1695)Caa>Taa p.Q565* BRCA 2 42530465 42530465 + Missense_Mutation SNP A A G TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr2:42530465A>G c.1778A>G c.(1777-1779)gAt>gGt p.D593G BRCA 2 42544566 42544566 + Splice_Site SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:42544566G>C c.e19-1 BRCA 2 42557268 42557268 + Missense_Mutation SNP A A T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 g.chr2:42557268A>T c.2867A>T c.(2866-2868)gAg>gTg p.E956V BRCA 2 42557309 42557309 + Missense_Mutation SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 g.chr2:42557309C>A c.2908C>A c.(2908-2910)Ctt>Att p.L970I CESC 2 42490404 42490404 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr2:42490404C>G c.599C>G c.(598-600)tCa>tGa p.S200* CHOL 2 42483696 42483696 + Silent SNP T T C TCGA-ZH-A8Y2-01A-11D-A417-09 TCGA-ZH-A8Y2-10A-01D-A41A-09 g.chr2:42483696T>C c.264T>C c.(262-264)ggT>ggC p.G88G COAD 2 42472675 42472675 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:42472675A>G c.56A>G c.(55-57)gAt>gGt p.D19G COAD 2 42483684 42483684 + Silent SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:42483684C>A c.252C>A c.(250-252)acC>acA p.T84T COAD 2 42483731 42483731 + Nonsense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:42483731C>A c.299C>A c.(298-300)tCa>tAa p.S100* COAD 2 42510011 42510011 + Silent SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:42510011G>A c.840G>A c.(838-840)ccG>ccA p.P280P COAD 2 42510015 42510015 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:42510015G>A c.844G>A c.(844-846)Ggg>Agg p.G282R COAD 2 42515398 42515398 + Missense_Mutation SNP A A T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr2:42515398A>T c.1154A>T c.(1153-1155)gAc>gTc p.D385V COAD 2 42522268 42522268 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:42522268A>C c.1222A>C c.(1222-1224)Aca>Cca p.T408P COAD 2 42522281 42522281 + Missense_Mutation SNP T T C TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr2:42522281T>C c.1235T>C c.(1234-1236)gTt>gCt p.V412A COAD 2 42522281 42522281 + Missense_Mutation SNP T T C TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr2:42522281T>C c.1235T>C c.(1234-1236)gTt>gCt p.V412A COAD 2 42522281 42522281 + Missense_Mutation SNP T T C TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chr2:42522281T>C c.1235T>C c.(1234-1236)gTt>gCt p.V412A COAD 2 42528494 42528494 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:42528494C>A c.1603C>A c.(1603-1605)Ctg>Atg p.L535M COAD 2 42556029 42556029 + Missense_Mutation SNP T T C TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr2:42556029T>C c.2345T>C c.(2344-2346)gTc>gCc p.V782A COAD 2 42557059 42557059 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:42557059C>A c.2658C>A c.(2656-2658)gtC>gtA p.V886V COADREAD 2 42472675 42472675 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:42472675A>G c.56A>G c.(55-57)gAt>gGt p.D19G COADREAD 2 42483684 42483684 + Silent SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:42483684C>A c.252C>A c.(250-252)acC>acA p.T84T COADREAD 2 42483731 42483731 + Nonsense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:42483731C>A c.299C>A c.(298-300)tCa>tAa p.S100* COADREAD 2 42510011 42510011 + Silent SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:42510011G>A c.840G>A c.(838-840)ccG>ccA p.P280P COADREAD 2 42510015 42510015 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:42510015G>A c.844G>A c.(844-846)Ggg>Agg p.G282R COADREAD 2 42515398 42515398 + Missense_Mutation SNP A A T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr2:42515398A>T c.1154A>T c.(1153-1155)gAc>gTc p.D385V COADREAD 2 42522268 42522268 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:42522268A>C c.1222A>C c.(1222-1224)Aca>Cca p.T408P COADREAD 2 42522281 42522281 + Missense_Mutation SNP T T C TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr2:42522281T>C c.1235T>C c.(1234-1236)gTt>gCt p.V412A COADREAD 2 42522281 42522281 + Missense_Mutation SNP T T C TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr2:42522281T>C c.1235T>C c.(1234-1236)gTt>gCt p.V412A COADREAD 2 42522281 42522281 + Missense_Mutation SNP T T C TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chr2:42522281T>C c.1235T>C c.(1234-1236)gTt>gCt p.V412A COADREAD 2 42528494 42528494 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:42528494C>A c.1603C>A c.(1603-1605)Ctg>Atg p.L535M COADREAD 2 42556029 42556029 + Missense_Mutation SNP T T C TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr2:42556029T>C c.2345T>C c.(2344-2346)gTc>gCc p.V782A COADREAD 2 42557059 42557059 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:42557059C>A c.2658C>A c.(2656-2658)gtC>gtA p.V886V ESCA 2 42490326 42490326 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 g.chr2:42490326G>A c.521G>A c.(520-522)cGa>cAa p.R174Q ESCA 2 42490438 42490438 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr2:42490438T>C c.633T>C c.(631-633)acT>acC p.T211T ESCA 2 42508024 42508024 + Silent SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr2:42508024G>A c.702G>A c.(700-702)cgG>cgA p.R234R ESCA 2 42508029 42508029 + Missense_Mutation SNP T T A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 g.chr2:42508029T>A c.707T>A c.(706-708)aTt>aAt p.I236N ESCA 2 42508091 42508091 + Missense_Mutation SNP G G C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr2:42508091G>C c.769G>C c.(769-771)Gag>Cag p.E257Q ESCA 2 42511825 42511825 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr2:42511825C>T c.993C>T c.(991-993)ggC>ggT p.G331G ESCA 2 42513409 42513409 + Splice_Site SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 g.chr2:42513409C>A c.1012C>A c.(1012-1014)Cct>Act p.P338T ESCA 2 42557031 42557031 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr2:42557031C>T c.2630C>T c.(2629-2631)gCg>gTg p.A877V ESCA 2 42557121 42557121 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr2:42557121A>G c.2720A>G c.(2719-2721)aAt>aGt p.N907S ESCA 2 42557121 42557121 + Missense_Mutation SNP A A G TCGA-LN-A7HV-01A-21D-A351-09 TCGA-LN-A7HV-10A-01D-A351-09 g.chr2:42557121A>G c.2720A>G c.(2719-2721)aAt>aGt p.N907S GBMLGG 2 42513476 42513476 + Missense_Mutation SNP G G A TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 g.chr2:42513476G>A c.1079G>A c.(1078-1080)gGc>gAc p.G360D GBMLGG 2 42553330 42553330 + Missense_Mutation SNP G G T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 g.chr2:42553330G>T c.2279G>T c.(2278-2280)cGa>cTa p.R760L HNSC 2 42472706 42472706 + Silent SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 g.chr2:42472706A>G c.87A>G c.(85-87)tcA>tcG p.S29S HNSC 2 42531679 42531679 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 g.chr2:42531679C>A c.1955C>A c.(1954-1956)aCg>aAg p.T652K HNSC 2 42553383 42553383 + Missense_Mutation SNP C C G TCGA-F7-A50G-01A-11D-A25Y-08 TCGA-F7-A50G-10A-01D-A25Y-08 g.chr2:42553383C>G c.2332C>G c.(2332-2334)Caa>Gaa p.Q778E HNSC 2 42556897 42556897 + Silent SNP C C T TCGA-QK-AA3J-01A-11D-A391-08 TCGA-QK-AA3J-10A-01D-A394-08 g.chr2:42556897C>T c.2496C>T c.(2494-2496)gcC>gcT p.A832A HNSC 2 42557000 42557000 + Missense_Mutation SNP A A C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 g.chr2:42557000A>C c.2599A>C c.(2599-2601)Aag>Cag p.K867Q HNSC 2 42557100 42557100 + Missense_Mutation SNP C C G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 g.chr2:42557100C>G c.2699C>G c.(2698-2700)cCg>cGg p.P900R HNSC 2 42557335 42557335 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 g.chr2:42557335G>A c.2934G>A c.(2932-2934)tcG>tcA p.S978S KIPAN 2 42472705 42472705 + Nonsense_Mutation SNP C C A TCGA-CJ-4918-01A-01D-1429-08 TCGA-CJ-4918-11A-01D-1429-08 g.chr2:42472705C>A c.86C>A c.(85-87)tCa>tAa p.S29* KIPAN 2 42510110 42510110 + Silent SNP A A G TCGA-CJ-4873-01A-01D-1373-10 TCGA-CJ-4873-11A-01D-1373-10 g.chr2:42510110A>G c.939A>G c.(937-939)aaA>aaG p.K313K KIRC 2 42472705 42472705 + Nonsense_Mutation SNP C C A TCGA-CJ-4918-01A-01D-1429-08 TCGA-CJ-4918-11A-01D-1429-08 g.chr2:42472705C>A c.86C>A c.(85-87)tCa>tAa p.S29* KIRC 2 42510110 42510110 + Silent SNP A A G TCGA-CJ-4873-01A-01D-1373-10 TCGA-CJ-4873-11A-01D-1373-10 g.chr2:42510110A>G c.939A>G c.(937-939)aaA>aaG p.K313K LGG 2 42513476 42513476 + Missense_Mutation SNP G G A TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 g.chr2:42513476G>A c.1079G>A c.(1078-1080)gGc>gAc p.G360D LGG 2 42553330 42553330 + Missense_Mutation SNP G G T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 g.chr2:42553330G>T c.2279G>T c.(2278-2280)cGa>cTa p.R760L LIHC 2 42488346 42488346 + Nonsense_Mutation SNP C C T TCGA-DD-A4NA-01A-11D-A25V-10 TCGA-DD-A4NA-11A-11D-A25V-10 g.chr2:42488346C>T c.424C>T c.(424-426)Cga>Tga p.R142* LIHC 2 42530527 42530527 + Missense_Mutation SNP A A T TCGA-G3-A7M5-01A-11D-A33Q-10 TCGA-G3-A7M5-10A-01D-A33Q-10 g.chr2:42530527A>T c.1840A>T c.(1840-1842)Agg>Tgg p.R614W LIHC 2 42544610 42544610 + Silent SNP C C T TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr2:42544610C>T c.2100C>T c.(2098-2100)taC>taT p.Y700Y LIHC 2 42556058 42556058 + Missense_Mutation SNP A A T TCGA-DD-AADF-01A-11D-A40R-10 TCGA-DD-AADF-10A-01D-A40U-10 g.chr2:42556058A>T c.2374A>T c.(2374-2376)Atc>Ttc p.I792F LIHC 2 42557132 42557132 + Missense_Mutation SNP G G A TCGA-DD-AADJ-01A-11D-A40R-10 TCGA-DD-AADJ-10A-01D-A40U-10 g.chr2:42557132G>A c.2731G>A c.(2731-2733)Gaa>Aaa p.E911K LUAD 2 42472648 42472648 + Missense_Mutation SNP A A G TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr2:42472648A>G c.29A>G c.(28-30)gAt>gGt p.D10G LUAD 2 42488304 42488304 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr2:42488304A>G c.382A>G c.(382-384)Aaa>Gaa p.K128E LUAD 2 42488319 42488319 + Missense_Mutation SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 g.chr2:42488319C>G c.397C>G c.(397-399)Cat>Gat p.H133D LUAD 2 42488428 42488428 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chr2:42488428C>T c.506C>T c.(505-507)aCc>aTc p.T169I LUAD 2 42511835 42511835 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr2:42511835G>C c.1003G>C c.(1003-1005)Gat>Cat p.D335H LUAD 2 42515415 42515415 + Missense_Mutation SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chr2:42515415C>G c.1171C>G c.(1171-1173)Ctt>Gtt p.L391V LUAD 2 42522520 42522520 + Splice_Site SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr2:42522520G>A c.e13-1 LUAD 2 42530318 42530318 + Silent SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr2:42530318A>G c.1716A>G c.(1714-1716)cgA>cgG p.R572R LUAD 2 42530454 42530454 + Splice_Site SNP G G T TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr2:42530454G>T c.e16-1 LUAD 2 42552612 42552612 + Silent SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 g.chr2:42552612T>C c.2160T>C c.(2158-2160)caT>caC p.H720H LUAD 2 42556062 42556062 + Missense_Mutation SNP A A G TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr2:42556062A>G c.2378A>G c.(2377-2379)aAt>aGt p.N793S LUSC 2 42472648 42472648 + Missense_Mutation SNP A A G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 g.chr2:42472648A>G c.29A>G c.(28-30)gAt>gGt p.D10G LUSC 2 42483655 42483655 + Nonsense_Mutation SNP C C T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr2:42483655C>T c.223C>T c.(223-225)Cga>Tga p.R75* LUSC 2 42511812 42511812 + Missense_Mutation SNP G G C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 g.chr2:42511812G>C c.980G>C c.(979-981)gGa>gCa p.G327A LUSC 2 42511825 42511825 + Silent SNP C C T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 g.chr2:42511825C>T c.993C>T c.(991-993)ggC>ggT p.G331G OV 2 42490350 42490350 + Missense_Mutation SNP A A G TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 g.chr2:42490350A>G c.545A>G c.(544-546)cAt>cGt p.H182R OV 2 42522282 42522282 + Silent SNP T T A TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 g.chr2:42522282T>A c.1236T>A c.(1234-1236)gtT>gtA p.V412V OV 2 42556028 42556028 + Missense_Mutation SNP G G C TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 g.chr2:42556028G>C c.2344G>C c.(2344-2346)Gtc>Ctc p.V782L PAAD 2 42511790 42511790 + Missense_Mutation SNP G G T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 g.chr2:42511790G>T c.958G>T c.(958-960)Gac>Tac p.D320Y PAAD 2 42513424 42513424 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:42513424G>A c.1027G>A c.(1027-1029)Gtc>Atc p.V343I PAAD 2 42531673 42531673 + Missense_Mutation SNP T T A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 g.chr2:42531673T>A c.1949T>A c.(1948-1950)aTa>aAa p.I650K PRAD 2 42472683 42472683 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:42472683G>T c.64G>T c.(64-66)Gat>Tat p.D22Y PRAD 2 42513409 42513409 + Splice_Site SNP C C T TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 g.chr2:42513409C>T c.1012C>T c.(1012-1014)Cct>Tct p.P338S PRAD 2 42522547 42522547 + Missense_Mutation SNP G G T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 g.chr2:42522547G>T c.1380G>T c.(1378-1380)caG>caT p.Q460H PRAD 2 42543187 42543187 + Missense_Mutation SNP A A T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 g.chr2:42543187A>T c.2053A>T c.(2053-2055)Ata>Tta p.I685L SARC 2 42522363 42522363 + Silent SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 g.chr2:42522363C>T c.1317C>T c.(1315-1317)agC>agT p.S439S SKCM 2 42472774 42472774 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:42472774T>C c.155T>C c.(154-156)cTt>cCt p.L52P SKCM 2 42488319 42488319 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr2:42488319C>T c.397C>T c.(397-399)Cat>Tat p.H133Y SKCM 2 42488356 42488356 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr2:42488356C>T c.434C>T c.(433-435)cCt>cTt p.P145L SKCM 2 42508004 42508004 + Missense_Mutation SNP A A G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr2:42508004A>G c.682A>G c.(682-684)Aaa>Gaa p.K228E SKCM 2 42531667 42531667 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr2:42531667T>G c.1943T>G c.(1942-1944)gTg>gGg p.V648G SKCM 2 42543112 42543112 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr2:42543112C>T c.1978C>T c.(1978-1980)Ctg>Ttg p.L660L SKCM 2 42543128 42543128 + Missense_Mutation SNP G G A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr2:42543128G>A c.1994G>A c.(1993-1995)aGa>aAa p.R665K SKCM 2 42544633 42544633 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr2:42544633G>A c.2123G>A c.(2122-2124)gGa>gAa p.G708E SKCM 2 42557083 42557083 + Silent SNP A A G TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr2:42557083A>G c.2682A>G c.(2680-2682)caA>caG p.Q894Q

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 2 42488330 42488330 single base substitution T C exon_variant AML-US 2 42488330 42488330 single base substitution T C intron_variant AML-US 2 42488330 42488330 single base substitution T C synonymous_variant D136D 408T>C BLCA-CN 2 42515421 42515421 single base substitution G C exon_variant BLCA-CN 2 42515421 42515421 single base substitution G C missense_variant V335L 1003G>C BLCA-CN 2 42515421 42515421 single base substitution G C missense_variant V393L 1177G>C BLCA-CN 2 42515421 42515421 single base substitution G C missense_variant V404L 1210G>C BLCA-US 2 42552634 42552634 single base substitution G C 5_prime_UTR_variant BLCA-US 2 42552634 42552634 single base substitution G C exon_variant BLCA-US 2 42552634 42552634 single base substitution G C missense_variant D670H 2008G>C BLCA-US 2 42552634 42552634 single base substitution G C missense_variant D728H 2182G>C BLCA-US 2 42552634 42552634 single base substitution G C missense_variant D739H 2215G>C BRCA-EU 2 42392320 42392320 single base substitution A G upstream_gene_variant BRCA-EU 2 42392346 42392346 single base substitution T G upstream_gene_variant BRCA-EU 2 42392644 42392644 single base substitution G A upstream_gene_variant BRCA-EU 2 42393277 42393277 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 42394536 42394536 single base substitution G A upstream_gene_variant BRCA-EU 2 42394650 42394650 single base substitution C G upstream_gene_variant BRCA-EU 2 42395983 42395983 single base substitution C G upstream_gene_variant BRCA-EU 2 42396386 42396386 single base substitution C T upstream_gene_variant BRCA-EU 2 42397328 42397328 single base substitution C T intron_variant BRCA-EU 2 42399213 42399213 single base substitution A T intron_variant BRCA-EU 2 42400707 42400707 single base substitution G A intron_variant BRCA-EU 2 42400826 42400826 insertion of <=200bp - A intron_variant BRCA-EU 2 42401711 42401712 deletion of <=200bp GT - intron_variant BRCA-EU 2 42403514 42403514 single base substitution C G intron_variant BRCA-EU 2 42406346 42406346 single base substitution G A intron_variant BRCA-EU 2 42407238 42407238 single base substitution T G intron_variant BRCA-EU 2 42408457 42408457 single base substitution G C intron_variant BRCA-EU 2 42408746 42408746 insertion of <=200bp - T intron_variant BRCA-EU 2 42409824 42409824 single base substitution T G intron_variant BRCA-EU 2 42411377 42411377 single base substitution C T intron_variant BRCA-EU 2 42416720 42416723 deletion of <=200bp AAAT - intron_variant BRCA-EU 2 42416839 42416839 single base substitution G C intron_variant BRCA-EU 2 42417390 42417390 single base substitution C G intron_variant BRCA-EU 2 42418310 42418310 insertion of <=200bp - T intron_variant BRCA-EU 2 42418577 42418577 single base substitution T C intron_variant BRCA-EU 2 42419187 42419187 single base substitution G C intron_variant BRCA-EU 2 42419324 42419324 single base substitution C T intron_variant BRCA-EU 2 42419673 42419673 single base substitution C T intron_variant BRCA-EU 2 42420260 42420260 insertion of <=200bp - T intron_variant BRCA-EU 2 42421869 42421869 single base substitution C G intron_variant BRCA-EU 2 42422395 42422397 deletion of <=200bp ATT - intron_variant BRCA-EU 2 42426349 42426349 single base substitution G A intron_variant BRCA-EU 2 42426606 42426606 single base substitution A G intron_variant BRCA-EU 2 42429444 42429444 single base substitution G T intron_variant BRCA-EU 2 42430865 42430865 single base substitution A C intron_variant BRCA-EU 2 42431445 42431445 single base substitution G C intron_variant BRCA-EU 2 42431655 42431655 single base substitution G C intron_variant BRCA-EU 2 42431951 42431951 single base substitution G A intron_variant BRCA-EU 2 42433519 42433519 single base substitution G A intron_variant BRCA-EU 2 42434608 42434608 single base substitution C T intron_variant BRCA-EU 2 42437777 42437777 single base substitution A G intron_variant BRCA-EU 2 42438545 42438545 single base substitution C A intron_variant BRCA-EU 2 42440959 42440959 single base substitution G A intron_variant BRCA-EU 2 42442701 42442701 single base substitution A T intron_variant BRCA-EU 2 42443558 42443558 deletion of <=200bp T - intron_variant BRCA-EU 2 42444141 42444141 deletion of <=200bp A - intron_variant BRCA-EU 2 42444535 42444535 insertion of <=200bp - A intron_variant BRCA-EU 2 42446834 42446834 single base substitution G C intron_variant BRCA-EU 2 42448415 42448415 single base substitution G A intron_variant BRCA-EU 2 42451428 42451428 single base substitution A C intron_variant BRCA-EU 2 42452394 42452394 single base substitution C T intron_variant BRCA-EU 2 42452865 42452865 single base substitution G C intron_variant BRCA-EU 2 42453844 42453844 single base substitution G C intron_variant BRCA-EU 2 42454254 42454255 deletion of <=200bp TT - intron_variant BRCA-EU 2 42454516 42454516 single base substitution G C intron_variant BRCA-EU 2 42456338 42456338 single base substitution G T intron_variant BRCA-EU 2 42458341 42458341 single base substitution C G intron_variant BRCA-EU 2 42459604 42459604 single base substitution C T intron_variant BRCA-EU 2 42460403 42460403 insertion of <=200bp - A intron_variant BRCA-EU 2 42460454 42460454 single base substitution T C intron_variant BRCA-EU 2 42463688 42463688 single base substitution G T intron_variant BRCA-EU 2 42463969 42463969 single base substitution C T intron_variant BRCA-EU 2 42464198 42464198 single base substitution C A intron_variant BRCA-EU 2 42465087 42465087 single base substitution C G intron_variant BRCA-EU 2 42466074 42466074 single base substitution C A intron_variant BRCA-EU 2 42467269 42467269 single base substitution G C intron_variant BRCA-EU 2 42468322 42468322 single base substitution A T intron_variant BRCA-EU 2 42469627 42469627 single base substitution A G intron_variant BRCA-EU 2 42470503 42470503 single base substitution T C intron_variant BRCA-EU 2 42470538 42470538 single base substitution G T intron_variant BRCA-EU 2 42472006 42472006 single base substitution G A intron_variant BRCA-EU 2 42473067 42473067 single base substitution G T downstream_gene_variant BRCA-EU 2 42473067 42473067 single base substitution G T intron_variant BRCA-EU 2 42473120 42473120 single base substitution C A downstream_gene_variant BRCA-EU 2 42473120 42473120 single base substitution C A intron_variant BRCA-EU 2 42474347 42474347 single base substitution G A downstream_gene_variant BRCA-EU 2 42474347 42474347 single base substitution G A intron_variant BRCA-EU 2 42475166 42475166 single base substitution C G downstream_gene_variant BRCA-EU 2 42475166 42475166 single base substitution C G intron_variant BRCA-EU 2 42475172 42475172 single base substitution C G downstream_gene_variant BRCA-EU 2 42475172 42475172 single base substitution C G intron_variant BRCA-EU 2 42476887 42476887 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 42476887 42476887 deletion of <=200bp T - intron_variant BRCA-EU 2 42478008 42478008 single base substitution G A intron_variant BRCA-EU 2 42478439 42478439 single base substitution C G intron_variant BRCA-EU 2 42479386 42479386 single base substitution G A intron_variant BRCA-EU 2 42479425 42479425 single base substitution G T intron_variant BRCA-EU 2 42480343 42480343 single base substitution A G intron_variant BRCA-EU 2 42484071 42484071 single base substitution G T intron_variant BRCA-EU 2 42484688 42484688 single base substitution T C intron_variant BRCA-EU 2 42488302 42488302 deletion of <=200bp A - exon_variant BRCA-EU 2 42488302 42488302 deletion of <=200bp A - frameshift_variant E127 BRCA-EU 2 42488302 42488302 deletion of <=200bp A - intron_variant BRCA-EU 2 42490995 42490995 single base substitution G A downstream_gene_variant BRCA-EU 2 42490995 42490995 single base substitution G A intron_variant BRCA-EU 2 42492077 42492077 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 42492077 42492077 insertion of <=200bp - A frameshift_variant E229E? BRCA-EU 2 42492077 42492077 insertion of <=200bp - A intron_variant BRCA-EU 2 42492478 42492478 single base substitution C T downstream_gene_variant BRCA-EU 2 42492478 42492478 single base substitution C T intron_variant BRCA-EU 2 42492794 42492794 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 42492794 42492794 deletion of <=200bp A - intron_variant BRCA-EU 2 42493229 42493229 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 42493229 42493229 deletion of <=200bp T - intron_variant BRCA-EU 2 42494399 42494399 single base substitution C G intron_variant BRCA-EU 2 42494474 42494474 single base substitution A G intron_variant BRCA-EU 2 42494605 42494605 single base substitution G C intron_variant BRCA-EU 2 42495560 42495560 single base substitution T C intron_variant BRCA-EU 2 42498891 42498891 single base substitution A C intron_variant BRCA-EU 2 42499067 42499067 single base substitution A G intron_variant BRCA-EU 2 42499654 42499654 single base substitution C A intron_variant BRCA-EU 2 42501898 42501898 single base substitution A T intron_variant BRCA-EU 2 42502435 42502435 single base substitution C G intron_variant BRCA-EU 2 42502594 42502594 single base substitution C T intron_variant BRCA-EU 2 42505005 42505005 single base substitution C G intron_variant BRCA-EU 2 42505314 42505314 single base substitution A G intron_variant BRCA-EU 2 42505314 42505314 single base substitution A G upstream_gene_variant BRCA-EU 2 42505830 42505830 single base substitution T G intron_variant BRCA-EU 2 42505830 42505830 single base substitution T G upstream_gene_variant BRCA-EU 2 42507433 42507433 single base substitution A G intron_variant BRCA-EU 2 42507433 42507433 single base substitution A G upstream_gene_variant BRCA-EU 2 42510880 42510880 single base substitution A G intron_variant BRCA-EU 2 42510880 42510880 single base substitution A G upstream_gene_variant BRCA-EU 2 42511520 42511520 single base substitution G A intron_variant BRCA-EU 2 42511520 42511520 single base substitution G A upstream_gene_variant BRCA-EU 2 42512887 42512887 insertion of <=200bp - TAC intron_variant BRCA-EU 2 42512887 42512887 insertion of <=200bp - TAC upstream_gene_variant BRCA-EU 2 42513571 42513571 single base substitution G A intron_variant BRCA-EU 2 42513928 42513928 single base substitution A G intron_variant BRCA-EU 2 42514454 42514454 single base substitution C T intron_variant BRCA-EU 2 42515473 42515473 single base substitution A T exon_variant BRCA-EU 2 42515473 42515473 single base substitution A T intron_variant BRCA-EU 2 42515645 42515645 single base substitution A C exon_variant BRCA-EU 2 42515645 42515645 single base substitution A C intron_variant BRCA-EU 2 42516031 42516031 single base substitution T C exon_variant BRCA-EU 2 42516031 42516031 single base substitution T C intron_variant BRCA-EU 2 42518066 42518066 deletion of <=200bp G - downstream_gene_variant BRCA-EU 2 42518066 42518066 deletion of <=200bp G - intron_variant BRCA-EU 2 42518208 42518208 single base substitution G A downstream_gene_variant BRCA-EU 2 42518208 42518208 single base substitution G A intron_variant BRCA-EU 2 42519060 42519060 single base substitution A C downstream_gene_variant BRCA-EU 2 42519060 42519060 single base substitution A C intron_variant BRCA-EU 2 42519220 42519220 single base substitution A G downstream_gene_variant BRCA-EU 2 42519220 42519220 single base substitution A G intron_variant BRCA-EU 2 42519620 42519620 single base substitution G A downstream_gene_variant BRCA-EU 2 42519620 42519620 single base substitution G A intron_variant BRCA-EU 2 42520596 42520596 single base substitution G A downstream_gene_variant BRCA-EU 2 42520596 42520596 single base substitution G A intron_variant BRCA-EU 2 42520653 42520653 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 42520653 42520653 deletion of <=200bp A - intron_variant BRCA-EU 2 42520775 42520775 single base substitution A C downstream_gene_variant BRCA-EU 2 42520775 42520775 single base substitution A C intron_variant BRCA-EU 2 42521097 42521097 single base substitution G C downstream_gene_variant BRCA-EU 2 42521097 42521097 single base substitution G C intron_variant BRCA-EU 2 42521455 42521455 single base substitution C T downstream_gene_variant BRCA-EU 2 42521455 42521455 single base substitution C T intron_variant BRCA-EU 2 42522623 42522623 single base substitution A G exon_variant BRCA-EU 2 42522623 42522623 single base substitution A G missense_variant T428A 1282A>G BRCA-EU 2 42522623 42522623 single base substitution A G missense_variant T486A 1456A>G BRCA-EU 2 42522623 42522623 single base substitution A G missense_variant T497A 1489A>G BRCA-EU 2 42523479 42523479 deletion of <=200bp A - intron_variant BRCA-EU 2 42523479 42523479 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 42523867 42523867 single base substitution G C intron_variant BRCA-EU 2 42523867 42523867 single base substitution G C upstream_gene_variant BRCA-EU 2 42525540 42525540 deletion of <=200bp T - intron_variant BRCA-EU 2 42525540 42525540 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 42526490 42526490 single base substitution A G intron_variant BRCA-EU 2 42526490 42526490 single base substitution A G upstream_gene_variant BRCA-EU 2 42527851 42527851 single base substitution T G intron_variant BRCA-EU 2 42527851 42527851 single base substitution T G upstream_gene_variant BRCA-EU 2 42528426 42528426 single base substitution T C 5_prime_UTR_variant BRCA-EU 2 42528426 42528426 single base substitution T C exon_variant BRCA-EU 2 42528426 42528426 single base substitution T C missense_variant V454A 1361T>C BRCA-EU 2 42528426 42528426 single base substitution T C missense_variant V512A 1535T>C BRCA-EU 2 42528426 42528426 single base substitution T C missense_variant V523A 1568T>C BRCA-EU 2 42528874 42528874 single base substitution G C intron_variant BRCA-EU 2 42528981 42528981 single base substitution C A intron_variant BRCA-EU 2 42529569 42529569 single base substitution C G intron_variant BRCA-EU 2 42529784 42529784 single base substitution C T intron_variant BRCA-EU 2 42530743 42530743 single base substitution C T intron_variant BRCA-EU 2 42531613 42531613 single base substitution C G intron_variant BRCA-EU 2 42532256 42532256 deletion of <=200bp A - intron_variant BRCA-EU 2 42534394 42534394 single base substitution T C intron_variant BRCA-EU 2 42535146 42535146 deletion of <=200bp A - intron_variant BRCA-EU 2 42535494 42535494 single base substitution T G intron_variant BRCA-EU 2 42535551 42535551 single base substitution G A intron_variant BRCA-EU 2 42535985 42535985 single base substitution G A intron_variant BRCA-EU 2 42536794 42536794 single base substitution G A intron_variant BRCA-EU 2 42536932 42536932 single base substitution G C intron_variant BRCA-EU 2 42538836 42538836 single base substitution C G intron_variant BRCA-EU 2 42539343 42539343 single base substitution T A intron_variant BRCA-EU 2 42539661 42539661 single base substitution T C intron_variant BRCA-EU 2 42539661 42539661 single base substitution T C upstream_gene_variant BRCA-EU 2 42540113 42540113 single base substitution G C intron_variant BRCA-EU 2 42540113 42540113 single base substitution G C upstream_gene_variant BRCA-EU 2 42540857 42540857 single base substitution C T intron_variant BRCA-EU 2 42540857 42540857 single base substitution C T upstream_gene_variant BRCA-EU 2 42541431 42541431 single base substitution G A intron_variant BRCA-EU 2 42541431 42541431 single base substitution G A upstream_gene_variant BRCA-EU 2 42541805 42541805 single base substitution C T intron_variant BRCA-EU 2 42541805 42541805 single base substitution C T upstream_gene_variant BRCA-EU 2 42542850 42542850 single base substitution A C intron_variant BRCA-EU 2 42542850 42542850 single base substitution A C upstream_gene_variant BRCA-EU 2 42544420 42544420 single base substitution C G intron_variant BRCA-EU 2 42544420 42544420 single base substitution C G upstream_gene_variant BRCA-EU 2 42548114 42548114 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 42548114 42548114 deletion of <=200bp A - intron_variant BRCA-EU 2 42554542 42554542 single base substitution T C intron_variant BRCA-EU 2 42555065 42555065 single base substitution G A intron_variant BRCA-EU 2 42558972 42558972 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 42558972 42558972 single base substitution G C downstream_gene_variant BRCA-EU 2 42558972 42558972 single base substitution G C exon_variant BRCA-EU 2 42559221 42559221 single base substitution T G 3_prime_UTR_variant BRCA-EU 2 42559221 42559221 single base substitution T G downstream_gene_variant BRCA-EU 2 42559221 42559221 single base substitution T G exon_variant BRCA-EU 2 42559328 42559363 deletion of <=200bp TCAGTGATCAGCAGGGAGTTTATTTGAGGACATCAG - 3_prime_UTR_variant BRCA-EU 2 42559328 42559363 deletion of <=200bp TCAGTGATCAGCAGGGAGTTTATTTGAGGACATCAG - downstream_gene_variant BRCA-EU 2 42559328 42559363 deletion of <=200bp TCAGTGATCAGCAGGGAGTTTATTTGAGGACATCAG - exon_variant BRCA-EU 2 42561514 42561516 deletion of <=200bp GAA - downstream_gene_variant BRCA-EU 2 42562772 42562772 single base substitution G T downstream_gene_variant BRCA-EU 2 42562774 42562774 single base substitution A T downstream_gene_variant BRCA-EU 2 42562942 42562942 single base substitution G A downstream_gene_variant BRCA-EU 2 42564129 42564129 single base substitution A T downstream_gene_variant BRCA-FR 2 42403514 42403514 single base substitution C G intron_variant BRCA-FR 2 42406346 42406346 single base substitution G A intron_variant BRCA-FR 2 42408457 42408457 single base substitution G C intron_variant BRCA-FR 2 42411377 42411377 single base substitution C T intron_variant BRCA-FR 2 42418999 42418999 single base substitution C T intron_variant BRCA-FR 2 42426349 42426349 single base substitution G A intron_variant BRCA-FR 2 42451428 42451428 single base substitution A C intron_variant BRCA-FR 2 42465087 42465087 single base substitution C G intron_variant BRCA-FR 2 42467642 42467642 single base substitution C T intron_variant BRCA-FR 2 42472006 42472006 single base substitution G A intron_variant BRCA-FR 2 42473120 42473120 single base substitution C A downstream_gene_variant BRCA-FR 2 42473120 42473120 single base substitution C A intron_variant BRCA-FR 2 42476687 42476687 single base substitution T G downstream_gene_variant BRCA-FR 2 42476687 42476687 single base substitution T G intron_variant BRCA-FR 2 42488169 42488169 single base substitution G C intron_variant BRCA-FR 2 42490995 42490995 single base substitution G A downstream_gene_variant BRCA-FR 2 42490995 42490995 single base substitution G A intron_variant BRCA-FR 2 42494474 42494474 single base substitution A G intron_variant BRCA-FR 2 42496554 42496554 single base substitution A T intron_variant BRCA-FR 2 42499657 42499657 single base substitution G A intron_variant BRCA-FR 2 42506921 42506921 single base substitution T A intron_variant BRCA-FR 2 42506921 42506921 single base substitution T A upstream_gene_variant BRCA-FR 2 42508114 42508114 single base substitution G A splice_donor_variant BRCA-FR 2 42508114 42508114 single base substitution G A upstream_gene_variant BRCA-FR 2 42509490 42509490 single base substitution G A intron_variant BRCA-FR 2 42509490 42509490 single base substitution G A upstream_gene_variant BRCA-FR 2 42522202 42522202 single base substitution G C intron_variant BRCA-FR 2 42523867 42523867 single base substitution G C intron_variant BRCA-FR 2 42523867 42523867 single base substitution G C upstream_gene_variant BRCA-FR 2 42529784 42529784 single base substitution C T intron_variant BRCA-FR 2 42539661 42539661 single base substitution T C intron_variant BRCA-FR 2 42539661 42539661 single base substitution T C upstream_gene_variant BRCA-FR 2 42540857 42540857 single base substitution C T intron_variant BRCA-FR 2 42540857 42540857 single base substitution C T upstream_gene_variant BRCA-FR 2 42545462 42545462 single base substitution A G intron_variant BRCA-UK 2 42437777 42437777 single base substitution A G intron_variant BRCA-UK 2 42450327 42450327 single base substitution G A intron_variant BRCA-UK 2 42470538 42470538 single base substitution G T intron_variant BRCA-UK 2 42488347 42488347 single base substitution G A exon_variant BRCA-UK 2 42488347 42488347 single base substitution G A intron_variant BRCA-UK 2 42488347 42488347 single base substitution G A missense_variant R142Q 425G>A BRCA-UK 2 42510010 42510010 single base substitution C A missense_variant P222Q 665C>A BRCA-UK 2 42510010 42510010 single base substitution C A missense_variant P280Q 839C>A BRCA-UK 2 42510010 42510010 single base substitution C A missense_variant P291Q 872C>A BRCA-UK 2 42510010 42510010 single base substitution C A upstream_gene_variant BRCA-UK 2 42513412 42513412 single base substitution C G exon_variant BRCA-UK 2 42513412 42513412 single base substitution C G missense_variant L281V 841C>G BRCA-UK 2 42513412 42513412 single base substitution C G missense_variant L339V 1015C>G BRCA-UK 2 42513412 42513412 single base substitution C G missense_variant L350V 1048C>G BRCA-UK 2 42521184 42521184 single base substitution C T downstream_gene_variant BRCA-UK 2 42521184 42521184 single base substitution C T intron_variant BRCA-UK 2 42522623 42522623 single base substitution A G exon_variant BRCA-UK 2 42522623 42522623 single base substitution A G missense_variant T428A 1282A>G BRCA-UK 2 42522623 42522623 single base substitution A G missense_variant T486A 1456A>G BRCA-UK 2 42522623 42522623 single base substitution A G missense_variant T497A 1489A>G BRCA-UK 2 42538836 42538836 single base substitution C G intron_variant BRCA-UK 2 42562554 42562554 single base substitution C T downstream_gene_variant BRCA-US 2 42472741 42472741 insertion of <=200bp - A exon_variant BRCA-US 2 42472741 42472741 insertion of <=200bp - A frameshift_variant L41H? BRCA-US 2 42472824 42472824 single base substitution A T exon_variant BRCA-US 2 42472824 42472824 single base substitution A T stop_gained K69* 205A>T BRCA-US 2 42530295 42530295 single base substitution C T 5_prime_UTR_variant BRCA-US 2 42530295 42530295 single base substitution C T exon_variant BRCA-US 2 42530295 42530295 single base substitution C T stop_gained Q507* 1519C>T BRCA-US 2 42530295 42530295 single base substitution C T stop_gained Q565* 1693C>T BRCA-US 2 42530295 42530295 single base substitution C T stop_gained Q576* 1726C>T BRCA-US 2 42530465 42530465 single base substitution A G 5_prime_UTR_variant BRCA-US 2 42530465 42530465 single base substitution A G exon_variant BRCA-US 2 42530465 42530465 single base substitution A G missense_variant D535G 1604A>G BRCA-US 2 42530465 42530465 single base substitution A G missense_variant D593G 1778A>G BRCA-US 2 42530465 42530465 single base substitution A G missense_variant D604G 1811A>G BRCA-US 2 42544566 42544566 single base substitution G C intron_variant BRCA-US 2 42544566 42544566 single base substitution G C splice_acceptor_variant BRCA-US 2 42544566 42544566 single base substitution G C upstream_gene_variant BRCA-US 2 42557268 42557268 single base substitution A T exon_variant BRCA-US 2 42557268 42557268 single base substitution A T missense_variant E220V 659A>T BRCA-US 2 42557268 42557268 single base substitution A T missense_variant E898V 2693A>T BRCA-US 2 42557268 42557268 single base substitution A T missense_variant E956V 2867A>T BRCA-US 2 42557268 42557268 single base substitution A T missense_variant E967V 2900A>T BRCA-US 2 42557309 42557309 single base substitution C A exon_variant BRCA-US 2 42557309 42557309 single base substitution C A missense_variant L234I 700C>A BRCA-US 2 42557309 42557309 single base substitution C A missense_variant L912I 2734C>A BRCA-US 2 42557309 42557309 single base substitution C A missense_variant L970I 2908C>A BRCA-US 2 42557309 42557309 single base substitution C A missense_variant L981I 2941C>A BTCA-JP 2 42531802 42531802 insertion of <=200bp - C intron_variant BTCA-JP 2 42543044 42543044 deletion of <=200bp T - intron_variant BTCA-JP 2 42543044 42543044 deletion of <=200bp T - upstream_gene_variant BTCA-JP 2 42544695 42544695 single base substitution T A intron_variant CESC-US 2 42490404 42490404 single base substitution C G downstream_gene_variant CESC-US 2 42490404 42490404 single base substitution C G stop_gained S142* 425C>G CESC-US 2 42490404 42490404 single base substitution C G stop_gained S200* 599C>G CLLE-ES 2 42396484 42396484 single base substitution C G upstream_gene_variant CLLE-ES 2 42421597 42421597 single base substitution G T intron_variant CLLE-ES 2 42424835 42424835 single base substitution A G intron_variant CLLE-ES 2 42487953 42487953 single base substitution C T intron_variant CLLE-ES 2 42515988 42515988 single base substitution T C exon_variant CLLE-ES 2 42515988 42515988 single base substitution T C intron_variant CLLE-ES 2 42526594 42526594 single base substitution A G intron_variant CLLE-ES 2 42526594 42526594 single base substitution A G upstream_gene_variant CLLE-ES 2 42532633 42532633 single base substitution A G intron_variant CLLE-ES 2 42540013 42540013 single base substitution A C intron_variant CLLE-ES 2 42540013 42540013 single base substitution A C upstream_gene_variant COAD-US 2 42483731 42483731 single base substitution C A exon_variant COAD-US 2 42483731 42483731 single base substitution C A stop_gained S100* 299C>A COAD-US 2 42488302 42488303 deletion of <=200bp AA - exon_variant COAD-US 2 42488302 42488303 deletion of <=200bp AA - frameshift_variant E127 COAD-US 2 42488302 42488303 deletion of <=200bp AA - intron_variant COAD-US 2 42510011 42510011 single base substitution G A synonymous_variant P222P 666G>A COAD-US 2 42510011 42510011 single base substitution G A synonymous_variant P280P 840G>A COAD-US 2 42510011 42510011 single base substitution G A synonymous_variant P291P 873G>A COAD-US 2 42510011 42510011 single base substitution G A upstream_gene_variant COAD-US 2 42515388 42515388 single base substitution A G exon_variant COAD-US 2 42515388 42515388 single base substitution A G missense_variant I324V 970A>G COAD-US 2 42515388 42515388 single base substitution A G missense_variant I382V 1144A>G COAD-US 2 42515388 42515388 single base substitution A G missense_variant I393V 1177A>G COAD-US 2 42515398 42515398 single base substitution A T exon_variant COAD-US 2 42515398 42515398 single base substitution A T missense_variant D327V 980A>T COAD-US 2 42515398 42515398 single base substitution A T missense_variant D385V 1154A>T COAD-US 2 42515398 42515398 single base substitution A T missense_variant D396V 1187A>T COAD-US 2 42515437 42515437 single base substitution A G exon_variant COAD-US 2 42515437 42515437 single base substitution A G missense_variant K340R 1019A>G COAD-US 2 42515437 42515437 single base substitution A G missense_variant K398R 1193A>G COAD-US 2 42515437 42515437 single base substitution A G missense_variant K409R 1226A>G COCA-CN 2 42488198 42488198 single base substitution A G intron_variant COCA-CN 2 42488317 42488317 single base substitution C A exon_variant COCA-CN 2 42488317 42488317 single base substitution C A intron_variant COCA-CN 2 42488317 42488317 single base substitution C A missense_variant S132Y 395C>A COCA-CN 2 42491932 42491932 single base substitution T G downstream_gene_variant COCA-CN 2 42491932 42491932 single base substitution T G intron_variant COCA-CN 2 42507956 42507956 single base substitution C T intron_variant COCA-CN 2 42507956 42507956 single base substitution C T upstream_gene_variant COCA-CN 2 42510004 42510004 single base substitution T A missense_variant L220H 659T>A COCA-CN 2 42510004 42510004 single base substitution T A missense_variant L278H 833T>A COCA-CN 2 42510004 42510004 single base substitution T A missense_variant L289H 866T>A COCA-CN 2 42510004 42510004 single base substitution T A upstream_gene_variant COCA-CN 2 42511937 42511937 single base substitution C A intron_variant COCA-CN 2 42511937 42511937 single base substitution C A upstream_gene_variant COCA-CN 2 42522202 42522202 single base substitution G T intron_variant COCA-CN 2 42522502 42522502 single base substitution T G intron_variant COCA-CN 2 42522601 42522601 single base substitution C A exon_variant COCA-CN 2 42522601 42522601 single base substitution C A synonymous_variant V420V 1260C>A COCA-CN 2 42522601 42522601 single base substitution C A synonymous_variant V478V 1434C>A COCA-CN 2 42522601 42522601 single base substitution C A synonymous_variant V489V 1467C>A COCA-CN 2 42531792 42531792 single base substitution G A intron_variant COCA-CN 2 42543086 42543086 single base substitution T G intron_variant COCA-CN 2 42543086 42543086 single base substitution T G upstream_gene_variant COCA-CN 2 42543356 42543356 single base substitution C T intron_variant COCA-CN 2 42543356 42543356 single base substitution C T upstream_gene_variant COCA-CN 2 42552520 42552520 single base substitution T A intron_variant EOPC-DE 2 42401076 42401076 single base substitution C A intron_variant EOPC-DE 2 42401094 42401094 single base substitution A G intron_variant EOPC-DE 2 42467011 42467011 single base substitution C T intron_variant EOPC-DE 2 42493041 42493041 single base substitution G T downstream_gene_variant EOPC-DE 2 42493041 42493041 single base substitution G T intron_variant EOPC-DE 2 42498790 42498790 single base substitution G A intron_variant EOPC-DE 2 42544286 42544286 single base substitution A C intron_variant EOPC-DE 2 42544286 42544286 single base substitution A C upstream_gene_variant EOPC-DE 2 42562809 42562809 single base substitution C T downstream_gene_variant ESAD-UK 2 42392218 42392218 single base substitution T C upstream_gene_variant ESAD-UK 2 42394203 42394203 single base substitution T A upstream_gene_variant ESAD-UK 2 42394725 42394730 deletion of <=200bp AAATGA - upstream_gene_variant ESAD-UK 2 42394731 42394731 single base substitution A T upstream_gene_variant ESAD-UK 2 42397332 42397332 single base substitution C T intron_variant ESAD-UK 2 42399328 42399328 single base substitution T C intron_variant ESAD-UK 2 42402565 42402565 deletion of <=200bp T - intron_variant ESAD-UK 2 42404180 42404180 single base substitution G A intron_variant ESAD-UK 2 42406175 42406175 deletion of <=200bp G - intron_variant ESAD-UK 2 42410041 42410041 single base substitution C T intron_variant ESAD-UK 2 42410278 42410278 single base substitution G T intron_variant ESAD-UK 2 42410431 42410431 single base substitution T C intron_variant ESAD-UK 2 42413112 42413112 single base substitution T C intron_variant ESAD-UK 2 42414024 42414024 single base substitution T C intron_variant ESAD-UK 2 42414347 42414347 single base substitution C T intron_variant ESAD-UK 2 42414361 42414361 single base substitution T A intron_variant ESAD-UK 2 42415766 42415766 single base substitution G A intron_variant ESAD-UK 2 42417602 42417602 single base substitution T C intron_variant ESAD-UK 2 42419384 42419384 single base substitution G T intron_variant ESAD-UK 2 42421426 42421426 deletion of <=200bp T - intron_variant ESAD-UK 2 42423706 42423706 single base substitution T A intron_variant ESAD-UK 2 42425541 42425541 single base substitution C T intron_variant ESAD-UK 2 42428075 42428075 single base substitution C G intron_variant ESAD-UK 2 42428403 42428403 single base substitution T G intron_variant ESAD-UK 2 42429343 42429343 single base substitution G C intron_variant ESAD-UK 2 42429879 42429879 single base substitution A G intron_variant ESAD-UK 2 42433247 42433247 single base substitution C T intron_variant ESAD-UK 2 42434664 42434664 deletion of <=200bp T - intron_variant ESAD-UK 2 42436109 42436109 single base substitution A T intron_variant ESAD-UK 2 42436887 42436887 single base substitution C T intron_variant ESAD-UK 2 42438003 42438003 single base substitution T C intron_variant ESAD-UK 2 42442266 42442266 single base substitution T C intron_variant ESAD-UK 2 42444308 42444308 single base substitution T G intron_variant ESAD-UK 2 42445229 42445229 single base substitution G A intron_variant ESAD-UK 2 42447114 42447114 single base substitution G A intron_variant ESAD-UK 2 42449210 42449210 single base substitution G A intron_variant ESAD-UK 2 42450024 42450024 single base substitution C T intron_variant ESAD-UK 2 42452915 42452915 deletion of <=200bp T - intron_variant ESAD-UK 2 42454496 42454496 single base substitution C G intron_variant ESAD-UK 2 42464843 42464843 single base substitution T C intron_variant ESAD-UK 2 42467643 42467643 single base substitution A C intron_variant ESAD-UK 2 42468169 42468169 single base substitution T A intron_variant ESAD-UK 2 42469837 42469851 deletion of <=200bp CTTTTCTTTTCTTTC - intron_variant ESAD-UK 2 42470262 42470262 single base substitution A T intron_variant ESAD-UK 2 42471300 42471300 single base substitution G A intron_variant ESAD-UK 2 42475195 42475195 single base substitution C T downstream_gene_variant ESAD-UK 2 42475195 42475195 single base substitution C T intron_variant ESAD-UK 2 42475845 42475845 single base substitution T G downstream_gene_variant ESAD-UK 2 42475845 42475845 single base substitution T G intron_variant ESAD-UK 2 42475911 42475911 single base substitution T G downstream_gene_variant ESAD-UK 2 42475911 42475911 single base substitution T G intron_variant ESAD-UK 2 42477853 42477853 single base substitution G A intron_variant ESAD-UK 2 42480174 42480174 single base substitution T C intron_variant ESAD-UK 2 42480862 42480862 deletion of <=200bp A - intron_variant ESAD-UK 2 42486125 42486125 single base substitution G A intron_variant ESAD-UK 2 42487671 42487671 deletion of <=200bp T - intron_variant ESAD-UK 2 42489287 42489287 single base substitution A G downstream_gene_variant ESAD-UK 2 42489287 42489287 single base substitution A G intron_variant ESAD-UK 2 42490467 42490469 deletion of <=200bp ATT - downstream_gene_variant ESAD-UK 2 42490467 42490469 deletion of <=200bp ATT - intron_variant ESAD-UK 2 42491874 42491874 single base substitution A G downstream_gene_variant ESAD-UK 2 42491874 42491874 single base substitution A G splice_region_variant ESAD-UK 2 42500196 42500196 single base substitution G A intron_variant ESAD-UK 2 42501863 42501863 single base substitution G C intron_variant ESAD-UK 2 42505129 42505129 single base substitution A C intron_variant ESAD-UK 2 42505129 42505129 single base substitution A C upstream_gene_variant ESAD-UK 2 42506032 42506032 single base substitution C T intron_variant ESAD-UK 2 42506032 42506032 single base substitution C T upstream_gene_variant ESAD-UK 2 42506070 42506070 single base substitution C G intron_variant ESAD-UK 2 42506070 42506070 single base substitution C G upstream_gene_variant ESAD-UK 2 42506268 42506268 single base substitution T G intron_variant ESAD-UK 2 42506268 42506268 single base substitution T G upstream_gene_variant ESAD-UK 2 42506357 42506357 single base substitution C T intron_variant ESAD-UK 2 42506357 42506357 single base substitution C T upstream_gene_variant ESAD-UK 2 42506444 42506444 single base substitution A G intron_variant ESAD-UK 2 42506444 42506444 single base substitution A G upstream_gene_variant ESAD-UK 2 42508883 42508883 insertion of <=200bp - T intron_variant ESAD-UK 2 42508883 42508883 insertion of <=200bp - T upstream_gene_variant ESAD-UK 2 42509083 42509083 single base substitution C T intron_variant ESAD-UK 2 42509083 42509083 single base substitution C T upstream_gene_variant ESAD-UK 2 42509521 42509521 deletion of <=200bp T - intron_variant ESAD-UK 2 42509521 42509521 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 42509714 42509714 single base substitution C G intron_variant ESAD-UK 2 42509714 42509714 single base substitution C G upstream_gene_variant ESAD-UK 2 42511316 42511316 single base substitution T C intron_variant ESAD-UK 2 42511316 42511316 single base substitution T C upstream_gene_variant ESAD-UK 2 42517606 42517606 single base substitution C T downstream_gene_variant ESAD-UK 2 42517606 42517606 single base substitution C T intron_variant ESAD-UK 2 42523278 42523278 single base substitution G A intron_variant ESAD-UK 2 42523749 42523749 single base substitution C T intron_variant ESAD-UK 2 42523749 42523749 single base substitution C T upstream_gene_variant ESAD-UK 2 42526575 42526575 deletion of <=200bp G - intron_variant ESAD-UK 2 42526575 42526575 deletion of <=200bp G - upstream_gene_variant ESAD-UK 2 42526814 42526814 deletion of <=200bp T - intron_variant ESAD-UK 2 42526814 42526814 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 42527529 42527529 single base substitution C A intron_variant ESAD-UK 2 42527529 42527529 single base substitution C A upstream_gene_variant ESAD-UK 2 42530272 42530272 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 2 42530272 42530272 single base substitution C T exon_variant ESAD-UK 2 42530272 42530272 single base substitution C T missense_variant A499V 1496C>T ESAD-UK 2 42530272 42530272 single base substitution C T missense_variant A557V 1670C>T ESAD-UK 2 42530272 42530272 single base substitution C T missense_variant A568V 1703C>T ESAD-UK 2 42531052 42531052 single base substitution G A intron_variant ESAD-UK 2 42533027 42533028 deletion of <=200bp GT - intron_variant ESAD-UK 2 42533205 42533205 single base substitution C T intron_variant ESAD-UK 2 42534681 42534681 single base substitution T C intron_variant ESAD-UK 2 42536714 42536714 single base substitution T C intron_variant ESAD-UK 2 42538335 42538335 single base substitution G C intron_variant ESAD-UK 2 42540928 42540928 single base substitution G T intron_variant ESAD-UK 2 42540928 42540928 single base substitution G T upstream_gene_variant ESAD-UK 2 42543918 42543918 single base substitution A G intron_variant ESAD-UK 2 42543918 42543918 single base substitution A G upstream_gene_variant ESAD-UK 2 42546167 42546167 single base substitution A T intron_variant ESAD-UK 2 42546417 42546417 single base substitution A G intron_variant ESAD-UK 2 42547842 42547842 single base substitution A G downstream_gene_variant ESAD-UK 2 42547842 42547842 single base substitution A G intron_variant ESAD-UK 2 42552232 42552232 single base substitution T G intron_variant ESAD-UK 2 42555282 42555282 single base substitution A G intron_variant ESAD-UK 2 42557340 42557340 single base substitution C T exon_variant ESAD-UK 2 42557340 42557340 single base substitution C T missense_variant S244L 731C>T ESAD-UK 2 42557340 42557340 single base substitution C T missense_variant S922L 2765C>T ESAD-UK 2 42557340 42557340 single base substitution C T missense_variant S980L 2939C>T ESAD-UK 2 42557340 42557340 single base substitution C T missense_variant S991L 2972C>T ESAD-UK 2 42559996 42559996 single base substitution G C downstream_gene_variant ESAD-UK 2 42562948 42562948 single base substitution A C downstream_gene_variant ESAD-UK 2 42563159 42563159 single base substitution C T downstream_gene_variant ESCA-CN 2 42483721 42483721 single base substitution A T exon_variant ESCA-CN 2 42483721 42483721 single base substitution A T missense_variant S97C 289A>T ESCA-CN 2 42522578 42522578 single base substitution C G exon_variant ESCA-CN 2 42522578 42522578 single base substitution C G missense_variant L413V 1237C>G ESCA-CN 2 42522578 42522578 single base substitution C G missense_variant L471V 1411C>G ESCA-CN 2 42522578 42522578 single base substitution C G missense_variant L482V 1444C>G KIRC-US 2 42472705 42472705 single base substitution C A exon_variant KIRC-US 2 42472705 42472705 single base substitution C A stop_gained S29* 86C>A KIRC-US 2 42510110 42510110 single base substitution A G splice_region_variant KIRC-US 2 42510110 42510110 single base substitution A G upstream_gene_variant KIRP-US 2 42488420 42488420 single base substitution T C exon_variant KIRP-US 2 42488420 42488420 single base substitution T C intron_variant KIRP-US 2 42488420 42488420 single base substitution T C synonymous_variant A166A 498T>C LAML-KR 2 42541076 42541076 single base substitution C A intron_variant LAML-KR 2 42541076 42541076 single base substitution C A upstream_gene_variant LGG-US 2 42553330 42553330 single base substitution G T exon_variant LGG-US 2 42553330 42553330 single base substitution G T missense_variant R24L 71G>T LGG-US 2 42553330 42553330 single base substitution G T missense_variant R702L 2105G>T LGG-US 2 42553330 42553330 single base substitution G T missense_variant R760L 2279G>T LGG-US 2 42553330 42553330 single base substitution G T missense_variant R771L 2312G>T LICA-FR 2 42403280 42403280 single base substitution C T intron_variant LICA-FR 2 42407507 42407507 single base substitution T A intron_variant LICA-FR 2 42421488 42421488 insertion of <=200bp - TT intron_variant LICA-FR 2 42430781 42430781 insertion of <=200bp - TT intron_variant LICA-FR 2 42444644 42444644 single base substitution A G intron_variant LICA-FR 2 42447139 42447139 single base substitution A G intron_variant LICA-FR 2 42450337 42450337 insertion of <=200bp - TAGT intron_variant LICA-FR 2 42466430 42466430 single base substitution T C intron_variant LICA-FR 2 42499455 42499455 single base substitution A G intron_variant LICA-FR 2 42513389 42513389 single base substitution G T exon_variant LICA-FR 2 42513389 42513389 single base substitution G T intron_variant LICA-FR 2 42541077 42541077 insertion of <=200bp - A intron_variant LICA-FR 2 42541077 42541077 insertion of <=200bp - A upstream_gene_variant LICA-FR 2 42546500 42546500 single base substitution A T intron_variant LICA-FR 2 42560183 42560183 single base substitution A G downstream_gene_variant LICA-FR 2 42562970 42562970 insertion of <=200bp - AT downstream_gene_variant LIHC-US 2 42488346 42488346 single base substitution C T exon_variant LIHC-US 2 42488346 42488346 single base substitution C T intron_variant LIHC-US 2 42488346 42488346 single base substitution C T stop_gained R142* 424C>T LIHC-US 2 42490410 42490410 single base substitution C A downstream_gene_variant LIHC-US 2 42490410 42490410 single base substitution C A missense_variant P144H 431C>A LIHC-US 2 42490410 42490410 single base substitution C A missense_variant P202H 605C>A LIHC-US 2 42530527 42530527 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant LIHC-US 2 42530527 42530527 single base substitution A T exon_variant LIHC-US 2 42530527 42530527 single base substitution A T missense_variant R556W 1666A>T LIHC-US 2 42530527 42530527 single base substitution A T missense_variant R614W 1840A>T LIHC-US 2 42530527 42530527 single base substitution A T missense_variant R625W 1873A>T LINC-JP 2 42409311 42409311 single base substitution A T intron_variant LINC-JP 2 42415148 42415148 single base substitution T G intron_variant LINC-JP 2 42415199 42415199 single base substitution C G intron_variant LINC-JP 2 42417982 42417982 single base substitution A G intron_variant LINC-JP 2 42430781 42430781 insertion of <=200bp - T intron_variant LINC-JP 2 42437356 42437356 single base substitution G A intron_variant LINC-JP 2 42452381 42452381 single base substitution C G intron_variant LINC-JP 2 42453546 42453546 single base substitution A T intron_variant LINC-JP 2 42453593 42453593 single base substitution A G intron_variant LINC-JP 2 42453594 42453594 single base substitution T C intron_variant LINC-JP 2 42471402 42471402 single base substitution C A intron_variant LINC-JP 2 42471570 42471570 single base substitution T C intron_variant LINC-JP 2 42472253 42472253 single base substitution G T intron_variant LINC-JP 2 42480819 42480819 single base substitution A G intron_variant LINC-JP 2 42483201 42483201 single base substitution A G intron_variant LINC-JP 2 42483468 42483468 insertion of <=200bp - T intron_variant LINC-JP 2 42491767 42491767 single base substitution T C downstream_gene_variant LINC-JP 2 42491767 42491767 single base substitution T C intron_variant LINC-JP 2 42492077 42492077 insertion of <=200bp - A downstream_gene_variant LINC-JP 2 42492077 42492077 insertion of <=200bp - A frameshift_variant E229E? LINC-JP 2 42492077 42492077 insertion of <=200bp - A intron_variant LINC-JP 2 42509332 42509332 single base substitution C T intron_variant LINC-JP 2 42509332 42509332 single base substitution C T upstream_gene_variant LINC-JP 2 42513127 42513127 single base substitution A G exon_variant LINC-JP 2 42513127 42513127 single base substitution A G intron_variant LINC-JP 2 42515395 42515395 single base substitution A G exon_variant LINC-JP 2 42515395 42515395 single base substitution A G missense_variant D326G 977A>G LINC-JP 2 42515395 42515395 single base substitution A G missense_variant D384G 1151A>G LINC-JP 2 42515395 42515395 single base substitution A G missense_variant D395G 1184A>G LINC-JP 2 42515661 42515661 single base substitution A G exon_variant LINC-JP 2 42515661 42515661 single base substitution A G intron_variant LINC-JP 2 42522404 42522404 single base substitution G T splice_region_variant LINC-JP 2 42523100 42523100 single base substitution T C intron_variant LINC-JP 2 42528355 42528382 deletion of <=200bp GTGTTTTTATTTTTCCCTCATATTAGGT - frameshift_variant G439 LINC-JP 2 42528355 42528382 deletion of <=200bp GTGTTTTTATTTTTCCCTCATATTAGGT - frameshift_variant G497 LINC-JP 2 42528355 42528382 deletion of <=200bp GTGTTTTTATTTTTCCCTCATATTAGGT - frameshift_variant G508 LINC-JP 2 42528355 42528382 deletion of <=200bp GTGTTTTTATTTTTCCCTCATATTAGGT - splice_acceptor_variant LINC-JP 2 42528355 42528382 deletion of <=200bp GTGTTTTTATTTTTCCCTCATATTAGGT - upstream_gene_variant LINC-JP 2 42528387 42528387 single base substitution A G exon_variant LINC-JP 2 42528387 42528387 single base substitution A G missense_variant Y441C 1322A>G LINC-JP 2 42528387 42528387 single base substitution A G missense_variant Y499C 1496A>G LINC-JP 2 42528387 42528387 single base substitution A G missense_variant Y510C 1529A>G LINC-JP 2 42528387 42528387 single base substitution A G upstream_gene_variant LINC-JP 2 42530172 42530172 single base substitution A G intron_variant LINC-JP 2 42535279 42535279 single base substitution T G intron_variant LINC-JP 2 42536401 42536401 single base substitution T A intron_variant LINC-JP 2 42536589 42536589 single base substitution T A intron_variant LINC-JP 2 42544641 42544641 single base substitution T C exon_variant LINC-JP 2 42544641 42544641 single base substitution T C intron_variant LINC-JP 2 42544641 42544641 single base substitution T C missense_variant Y653H 1957T>C LINC-JP 2 42544641 42544641 single base substitution T C missense_variant Y711H 2131T>C LINC-JP 2 42544641 42544641 single base substitution T C missense_variant Y722H 2164T>C LINC-JP 2 42545842 42545842 single base substitution G T intron_variant LINC-JP 2 42545843 42545843 single base substitution T G intron_variant LINC-JP 2 42546374 42546374 single base substitution C T intron_variant LINC-JP 2 42553443 42553443 single base substitution A G intron_variant LINC-JP 2 42556749 42556749 single base substitution G A intron_variant LINC-JP 2 42557147 42557147 single base substitution A G exon_variant LINC-JP 2 42557147 42557147 single base substitution A G missense_variant I180V 538A>G LINC-JP 2 42557147 42557147 single base substitution A G missense_variant I858V 2572A>G LINC-JP 2 42557147 42557147 single base substitution A G missense_variant I916V 2746A>G LINC-JP 2 42557147 42557147 single base substitution A G missense_variant I927V 2779A>G LINC-JP 2 42561792 42561792 single base substitution T G downstream_gene_variant LIRI-JP 2 42392841 42392841 single base substitution A C upstream_gene_variant LIRI-JP 2 42393748 42393748 single base substitution C A upstream_gene_variant LIRI-JP 2 42393973 42393973 single base substitution A G upstream_gene_variant LIRI-JP 2 42394599 42394599 single base substitution G A upstream_gene_variant LIRI-JP 2 42394881 42394881 single base substitution G A upstream_gene_variant LIRI-JP 2 42396170 42396170 single base substitution C T upstream_gene_variant LIRI-JP 2 42397675 42397675 single base substitution A C intron_variant LIRI-JP 2 42399072 42399072 single base substitution A G intron_variant LIRI-JP 2 42403495 42403495 single base substitution A T intron_variant LIRI-JP 2 42406277 42406277 single base substitution T G intron_variant LIRI-JP 2 42409367 42409367 single base substitution A G intron_variant LIRI-JP 2 42409589 42409589 single base substitution T G intron_variant LIRI-JP 2 42409869 42409869 single base substitution T C intron_variant LIRI-JP 2 42410157 42410157 single base substitution A G intron_variant LIRI-JP 2 42412240 42412240 insertion of <=200bp - T intron_variant LIRI-JP 2 42413103 42413103 single base substitution A G intron_variant LIRI-JP 2 42414768 42414768 single base substitution A G intron_variant LIRI-JP 2 42416147 42416147 single base substitution T G intron_variant LIRI-JP 2 42419827 42419827 single base substitution A G intron_variant LIRI-JP 2 42421204 42421204 single base substitution A G intron_variant LIRI-JP 2 42421766 42421766 single base substitution T G intron_variant LIRI-JP 2 42422476 42422476 single base substitution G A intron_variant LIRI-JP 2 42423759 42423759 single base substitution A G intron_variant LIRI-JP 2 42424102 42424102 single base substitution T C intron_variant LIRI-JP 2 42424496 42424496 single base substitution G A intron_variant LIRI-JP 2 42424538 42424538 single base substitution A G intron_variant LIRI-JP 2 42428264 42428264 single base substitution A G intron_variant LIRI-JP 2 42430814 42430814 single base substitution A G intron_variant LIRI-JP 2 42432173 42432173 single base substitution A C intron_variant LIRI-JP 2 42432177 42432177 single base substitution T G intron_variant LIRI-JP 2 42432189 42432189 single base substitution T G intron_variant LIRI-JP 2 42432298 42432298 single base substitution A G intron_variant LIRI-JP 2 42432751 42432752 deletion of <=200bp TG - intron_variant LIRI-JP 2 42432935 42432935 single base substitution G A intron_variant LIRI-JP 2 42434435 42434435 single base substitution A G intron_variant LIRI-JP 2 42434464 42434464 single base substitution T C intron_variant LIRI-JP 2 42436064 42436064 single base substitution A G intron_variant LIRI-JP 2 42436952 42436952 single base substitution C T intron_variant LIRI-JP 2 42440137 42440137 single base substitution A G intron_variant LIRI-JP 2 42440318 42440318 single base substitution T A intron_variant LIRI-JP 2 42442443 42442443 single base substitution T G intron_variant LIRI-JP 2 42445288 42445288 single base substitution C T intron_variant LIRI-JP 2 42446072 42446072 single base substitution A G intron_variant LIRI-JP 2 42450570 42450570 single base substitution A G intron_variant LIRI-JP 2 42452367 42452367 single base substitution A G intron_variant LIRI-JP 2 42455390 42455390 single base substitution A G intron_variant LIRI-JP 2 42456192 42456192 single base substitution T G intron_variant LIRI-JP 2 42460150 42460150 single base substitution C T intron_variant LIRI-JP 2 42460422 42460422 single base substitution A G intron_variant LIRI-JP 2 42460826 42460826 single base substitution T G intron_variant LIRI-JP 2 42461878 42461915 deletion of <=200bp TATATAAAACAGCAGCTTTTAATGGAAAATAATTTAAA - intron_variant LIRI-JP 2 42463748 42463748 single base substitution A C intron_variant LIRI-JP 2 42464495 42464495 single base substitution A G intron_variant LIRI-JP 2 42465590 42465590 single base substitution A T intron_variant LIRI-JP 2 42469586 42469586 single base substitution A G intron_variant LIRI-JP 2 42470017 42470017 single base substitution A G intron_variant LIRI-JP 2 42470149 42470149 single base substitution A G intron_variant LIRI-JP 2 42471506 42471506 single base substitution G T intron_variant LIRI-JP 2 42473110 42473110 single base substitution G A downstream_gene_variant LIRI-JP 2 42473110 42473110 single base substitution G A intron_variant LIRI-JP 2 42474165 42474165 single base substitution C T downstream_gene_variant LIRI-JP 2 42474165 42474165 single base substitution C T intron_variant LIRI-JP 2 42477290 42477290 single base substitution C G downstream_gene_variant LIRI-JP 2 42477290 42477290 single base substitution C G intron_variant LIRI-JP 2 42477356 42477356 single base substitution A C downstream_gene_variant LIRI-JP 2 42477356 42477356 single base substitution A C intron_variant LIRI-JP 2 42477823 42477823 single base substitution A G downstream_gene_variant LIRI-JP 2 42477823 42477823 single base substitution A G intron_variant LIRI-JP 2 42478256 42478256 single base substitution G A intron_variant LIRI-JP 2 42478357 42478357 single base substitution T G intron_variant LIRI-JP 2 42479975 42479975 single base substitution A T intron_variant LIRI-JP 2 42481238 42481238 single base substitution A G intron_variant LIRI-JP 2 42481907 42481907 single base substitution C G intron_variant LIRI-JP 2 42482879 42482879 single base substitution A G intron_variant LIRI-JP 2 42485848 42485848 single base substitution A G intron_variant LIRI-JP 2 42486119 42486119 single base substitution G A intron_variant LIRI-JP 2 42486632 42486632 single base substitution A G intron_variant LIRI-JP 2 42489325 42489325 single base substitution A G downstream_gene_variant LIRI-JP 2 42489325 42489325 single base substitution A G intron_variant LIRI-JP 2 42492365 42492365 single base substitution A G downstream_gene_variant LIRI-JP 2 42492365 42492365 single base substitution A G intron_variant LIRI-JP 2 42493218 42493218 single base substitution G A downstream_gene_variant LIRI-JP 2 42493218 42493218 single base substitution G A intron_variant LIRI-JP 2 42494434 42494434 single base substitution A G intron_variant LIRI-JP 2 42495356 42495356 single base substitution A G intron_variant LIRI-JP 2 42497379 42497379 single base substitution A G intron_variant LIRI-JP 2 42497671 42497671 single base substitution C T intron_variant LIRI-JP 2 42498732 42498732 single base substitution A G intron_variant LIRI-JP 2 42498828 42498828 single base substitution C T intron_variant LIRI-JP 2 42499989 42499989 single base substitution A T intron_variant LIRI-JP 2 42501723 42501723 single base substitution A G intron_variant LIRI-JP 2 42501760 42501760 single base substitution A C intron_variant LIRI-JP 2 42506208 42506208 single base substitution T A intron_variant LIRI-JP 2 42506208 42506208 single base substitution T A upstream_gene_variant LIRI-JP 2 42510332 42510332 single base substitution A T intron_variant LIRI-JP 2 42510332 42510332 single base substitution A T upstream_gene_variant LIRI-JP 2 42510363 42510363 single base substitution G A intron_variant LIRI-JP 2 42510363 42510363 single base substitution G A upstream_gene_variant LIRI-JP 2 42511491 42511491 single base substitution A G intron_variant LIRI-JP 2 42511491 42511491 single base substitution A G upstream_gene_variant LIRI-JP 2 42511729 42511729 single base substitution T G intron_variant LIRI-JP 2 42511729 42511729 single base substitution T G upstream_gene_variant LIRI-JP 2 42511968 42511968 single base substitution G A intron_variant LIRI-JP 2 42511968 42511968 single base substitution G A upstream_gene_variant LIRI-JP 2 42513110 42513110 single base substitution G C exon_variant LIRI-JP 2 42513110 42513110 single base substitution G C intron_variant LIRI-JP 2 42513967 42513967 single base substitution A G intron_variant LIRI-JP 2 42514882 42514882 single base substitution A T intron_variant LIRI-JP 2 42514883 42514883 single base substitution G T intron_variant LIRI-JP 2 42514956 42514957 deletion of <=200bp TG - intron_variant LIRI-JP 2 42517728 42517728 single base substitution A T downstream_gene_variant LIRI-JP 2 42517728 42517728 single base substitution A T intron_variant LIRI-JP 2 42519546 42519546 single base substitution G T downstream_gene_variant LIRI-JP 2 42519546 42519546 single base substitution G T intron_variant LIRI-JP 2 42520115 42520115 single base substitution G T downstream_gene_variant LIRI-JP 2 42520115 42520115 single base substitution G T intron_variant LIRI-JP 2 42521188 42521188 single base substitution T A downstream_gene_variant LIRI-JP 2 42521188 42521188 single base substitution T A intron_variant LIRI-JP 2 42521696 42521696 single base substitution C T downstream_gene_variant LIRI-JP 2 42521696 42521696 single base substitution C T intron_variant LIRI-JP 2 42522080 42522080 single base substitution A C intron_variant LIRI-JP 2 42524083 42524083 single base substitution A G intron_variant LIRI-JP 2 42524083 42524083 single base substitution A G upstream_gene_variant LIRI-JP 2 42527381 42527386 deletion of <=200bp ACTAAT - intron_variant LIRI-JP 2 42527381 42527386 deletion of <=200bp ACTAAT - upstream_gene_variant LIRI-JP 2 42529116 42529116 single base substitution T C intron_variant LIRI-JP 2 42529330 42529330 single base substitution G A intron_variant LIRI-JP 2 42529836 42529836 single base substitution G C intron_variant LIRI-JP 2 42531089 42531089 single base substitution A C intron_variant LIRI-JP 2 42532609 42532624 deletion of <=200bp CTGATGTAACACCATT - intron_variant LIRI-JP 2 42535630 42535630 single base substitution C T intron_variant LIRI-JP 2 42536071 42536071 single base substitution A G intron_variant LIRI-JP 2 42538165 42538165 single base substitution T G intron_variant LIRI-JP 2 42538520 42538520 single base substitution G A intron_variant LIRI-JP 2 42538917 42538917 single base substitution A G intron_variant LIRI-JP 2 42539622 42539622 single base substitution A C intron_variant LIRI-JP 2 42539622 42539622 single base substitution A C upstream_gene_variant LIRI-JP 2 42540638 42540638 single base substitution A G intron_variant LIRI-JP 2 42540638 42540638 single base substitution A G upstream_gene_variant LIRI-JP 2 42541581 42541581 single base substitution T G intron_variant LIRI-JP 2 42541581 42541581 single base substitution T G upstream_gene_variant LIRI-JP 2 42543563 42543563 single base substitution C T intron_variant LIRI-JP 2 42543563 42543563 single base substitution C T upstream_gene_variant LIRI-JP 2 42543835 42543835 single base substitution C T intron_variant LIRI-JP 2 42543835 42543835 single base substitution C T upstream_gene_variant LIRI-JP 2 42544810 42544810 single base substitution T C intron_variant LIRI-JP 2 42544916 42544916 single base substitution A G intron_variant LIRI-JP 2 42545544 42545544 single base substitution A G intron_variant LIRI-JP 2 42546626 42546626 deletion of <=200bp C - intron_variant LIRI-JP 2 42547712 42547712 single base substitution A G downstream_gene_variant LIRI-JP 2 42547712 42547712 single base substitution A G intron_variant LIRI-JP 2 42551371 42551371 single base substitution A G downstream_gene_variant LIRI-JP 2 42551371 42551371 single base substitution A G intron_variant LIRI-JP 2 42551745 42551745 single base substitution T C downstream_gene_variant LIRI-JP 2 42551745 42551745 single base substitution T C intron_variant LIRI-JP 2 42552137 42552137 single base substitution A G downstream_gene_variant LIRI-JP 2 42552137 42552137 single base substitution A G intron_variant LIRI-JP 2 42553173 42553173 single base substitution A C intron_variant LIRI-JP 2 42554219 42554219 single base substitution A G intron_variant LIRI-JP 2 42554351 42554351 single base substitution T A intron_variant LIRI-JP 2 42554975 42554975 single base substitution T A intron_variant LIRI-JP 2 42554981 42554981 single base substitution T C intron_variant LIRI-JP 2 42557695 42557695 single base substitution T G 3_prime_UTR_variant LIRI-JP 2 42557695 42557695 single base substitution T G downstream_gene_variant LIRI-JP 2 42557695 42557695 single base substitution T G exon_variant LIRI-JP 2 42557953 42557953 single base substitution C A 3_prime_UTR_variant LIRI-JP 2 42557953 42557953 single base substitution C A downstream_gene_variant LIRI-JP 2 42557953 42557953 single base substitution C A exon_variant LIRI-JP 2 42559213 42559213 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 42559213 42559213 single base substitution T C downstream_gene_variant LIRI-JP 2 42559213 42559213 single base substitution T C exon_variant LIRI-JP 2 42559787 42559799 deletion of <=200bp TACTGCTGCTGCT - downstream_gene_variant LIRI-JP 2 42561064 42561064 single base substitution A C downstream_gene_variant LIRI-JP 2 42561261 42561261 single base substitution T A downstream_gene_variant LIRI-JP 2 42561687 42561687 single base substitution T C downstream_gene_variant LIRI-JP 2 42561689 42561689 single base substitution T A downstream_gene_variant LIRI-JP 2 42563516 42563516 single base substitution T G downstream_gene_variant LIRI-JP 2 42563681 42563681 single base substitution C T downstream_gene_variant LIRI-JP 2 42564453 42564453 single base substitution A T downstream_gene_variant LUSC-KR 2 42395761 42395761 single base substitution T C upstream_gene_variant LUSC-KR 2 42396402 42396402 single base substitution C A upstream_gene_variant LUSC-KR 2 42401554 42401554 single base substitution C T intron_variant LUSC-KR 2 42402276 42402276 single base substitution G A intron_variant LUSC-KR 2 42402289 42402289 single base substitution A G intron_variant LUSC-KR 2 42409459 42409459 single base substitution A T intron_variant LUSC-KR 2 42414817 42414817 single base substitution A T intron_variant LUSC-KR 2 42415171 42415171 single base substitution G A intron_variant LUSC-KR 2 42418502 42418502 single base substitution A T intron_variant LUSC-KR 2 42422671 42422671 single base substitution A C intron_variant LUSC-KR 2 42423606 42423606 single base substitution T C intron_variant LUSC-KR 2 42426159 42426159 single base substitution G A intron_variant LUSC-KR 2 42434784 42434784 single base substitution C T intron_variant LUSC-KR 2 42436833 42436833 single base substitution G A intron_variant LUSC-KR 2 42458347 42458347 single base substitution C G intron_variant LUSC-KR 2 42461917 42461917 single base substitution G T intron_variant LUSC-KR 2 42468836 42468836 single base substitution C T intron_variant LUSC-KR 2 42482092 42482092 single base substitution T C intron_variant LUSC-KR 2 42495569 42495569 single base substitution C G intron_variant LUSC-KR 2 42495676 42495676 single base substitution G T intron_variant LUSC-KR 2 42495994 42495994 single base substitution C G intron_variant LUSC-KR 2 42502176 42502176 single base substitution A G intron_variant LUSC-KR 2 42510355 42510355 single base substitution C T intron_variant LUSC-KR 2 42510355 42510355 single base substitution C T upstream_gene_variant LUSC-KR 2 42511627 42511627 single base substitution T G intron_variant LUSC-KR 2 42511627 42511627 single base substitution T G upstream_gene_variant LUSC-KR 2 42512190 42512190 single base substitution T C intron_variant LUSC-KR 2 42512190 42512190 single base substitution T C upstream_gene_variant LUSC-KR 2 42516760 42516760 single base substitution C T exon_variant LUSC-KR 2 42516760 42516760 single base substitution C T intron_variant LUSC-KR 2 42519877 42519877 single base substitution C A downstream_gene_variant LUSC-KR 2 42519877 42519877 single base substitution C A intron_variant LUSC-KR 2 42522849 42522849 single base substitution A G intron_variant LUSC-KR 2 42526504 42526504 single base substitution C G intron_variant LUSC-KR 2 42526504 42526504 single base substitution C G upstream_gene_variant LUSC-KR 2 42533651 42533651 single base substitution G T intron_variant LUSC-KR 2 42536588 42536588 single base substitution T A intron_variant LUSC-KR 2 42545961 42545961 single base substitution C T intron_variant LUSC-US 2 42472648 42472648 single base substitution A G exon_variant LUSC-US 2 42472648 42472648 single base substitution A G missense_variant D10G 29A>G LUSC-US 2 42483655 42483655 single base substitution C T exon_variant LUSC-US 2 42483655 42483655 single base substitution C T stop_gained R75* 223C>T LUSC-US 2 42511812 42511812 single base substitution G C exon_variant LUSC-US 2 42511812 42511812 single base substitution G C missense_variant G269A 806G>C LUSC-US 2 42511812 42511812 single base substitution G C missense_variant G327A 980G>C LUSC-US 2 42511812 42511812 single base substitution G C missense_variant G338A 1013G>C LUSC-US 2 42511812 42511812 single base substitution G C upstream_gene_variant LUSC-US 2 42511825 42511825 single base substitution C T exon_variant LUSC-US 2 42511825 42511825 single base substitution C T synonymous_variant G273G 819C>T LUSC-US 2 42511825 42511825 single base substitution C T synonymous_variant G331G 993C>T LUSC-US 2 42511825 42511825 single base substitution C T synonymous_variant G342G 1026C>T LUSC-US 2 42511825 42511825 single base substitution C T upstream_gene_variant MALY-DE 2 42392796 42392796 insertion of <=200bp - T upstream_gene_variant MALY-DE 2 42396113 42396113 single base substitution C G upstream_gene_variant MALY-DE 2 42409934 42409934 single base substitution A G intron_variant MALY-DE 2 42442771 42442771 single base substitution C T intron_variant MALY-DE 2 42444872 42444889 deletion of <=200bp TTGCTGAACTGTAGTTTT - intron_variant MALY-DE 2 42446302 42446302 single base substitution G T intron_variant MALY-DE 2 42450993 42450993 insertion of <=200bp - T intron_variant MALY-DE 2 42452068 42452068 single base substitution C T intron_variant MALY-DE 2 42454419 42454419 single base substitution G T intron_variant MALY-DE 2 42458281 42458281 single base substitution C T intron_variant MALY-DE 2 42463208 42463208 single base substitution T G intron_variant MALY-DE 2 42464443 42464443 single base substitution T C intron_variant MALY-DE 2 42473751 42473751 single base substitution T A downstream_gene_variant MALY-DE 2 42473751 42473751 single base substitution T A intron_variant MALY-DE 2 42483828 42483828 single base substitution A T intron_variant MALY-DE 2 42490277 42490277 single base substitution A G downstream_gene_variant MALY-DE 2 42490277 42490277 single base substitution A G intron_variant MALY-DE 2 42501812 42501812 single base substitution T C intron_variant MALY-DE 2 42510276 42510276 single base substitution G A intron_variant MALY-DE 2 42510276 42510276 single base substitution G A upstream_gene_variant MALY-DE 2 42530493 42530493 single base substitution C T 5_prime_UTR_variant MALY-DE 2 42530493 42530493 single base substitution C T exon_variant MALY-DE 2 42530493 42530493 single base substitution C T synonymous_variant P544P 1632C>T MALY-DE 2 42530493 42530493 single base substitution C T synonymous_variant P602P 1806C>T MALY-DE 2 42530493 42530493 single base substitution C T synonymous_variant P613P 1839C>T MALY-DE 2 42539840 42539840 single base substitution C T intron_variant MALY-DE 2 42539840 42539840 single base substitution C T upstream_gene_variant MALY-DE 2 42541333 42541333 single base substitution T C intron_variant MALY-DE 2 42541333 42541333 single base substitution T C upstream_gene_variant MALY-DE 2 42546871 42546871 single base substitution G A exon_variant MALY-DE 2 42546871 42546871 single base substitution G A intron_variant MALY-DE 2 42548575 42548575 single base substitution C A downstream_gene_variant MALY-DE 2 42548575 42548575 single base substitution C A intron_variant MALY-DE 2 42560107 42560107 deletion of <=200bp T - downstream_gene_variant MELA-AU 2 42391493 42391493 single base substitution A T upstream_gene_variant MELA-AU 2 42391524 42391524 single base substitution G A upstream_gene_variant MELA-AU 2 42391706 42391706 single base substitution T C upstream_gene_variant MELA-AU 2 42391715 42391715 single base substitution C A upstream_gene_variant MELA-AU 2 42392400 42392400 single base substitution C T upstream_gene_variant MELA-AU 2 42392788 42392788 single base substitution G A upstream_gene_variant MELA-AU 2 42393120 42393120 single base substitution C T upstream_gene_variant MELA-AU 2 42393373 42393373 single base substitution C T upstream_gene_variant MELA-AU 2 42393640 42393640 single base substitution C A upstream_gene_variant MELA-AU 2 42393762 42393762 single base substitution G A upstream_gene_variant MELA-AU 2 42393798 42393798 single base substitution C T upstream_gene_variant MELA-AU 2 42393880 42393880 single base substitution C T upstream_gene_variant MELA-AU 2 42394558 42394558 single base substitution G A upstream_gene_variant MELA-AU 2 42395018 42395018 single base substitution G A upstream_gene_variant MELA-AU 2 42395092 42395092 single base substitution G A upstream_gene_variant MELA-AU 2 42395119 42395119 single base substitution G A upstream_gene_variant MELA-AU 2 42395216 42395216 single base substitution C T upstream_gene_variant MELA-AU 2 42395277 42395277 single base substitution G A upstream_gene_variant MELA-AU 2 42395329 42395329 single base substitution C T upstream_gene_variant MELA-AU 2 42395805 42395805 single base substitution C T upstream_gene_variant MELA-AU 2 42395897 42395897 single base substitution C T upstream_gene_variant MELA-AU 2 42396141 42396141 single base substitution C T upstream_gene_variant MELA-AU 2 42396381 42396381 single base substitution G A upstream_gene_variant MELA-AU 2 42396405 42396405 single base substitution G A upstream_gene_variant MELA-AU 2 42396407 42396407 single base substitution G A upstream_gene_variant MELA-AU 2 42396419 42396419 single base substitution G A upstream_gene_variant MELA-AU 2 42396830 42396830 single base substitution C T intron_variant MELA-AU 2 42399732 42399732 single base substitution G A intron_variant MELA-AU 2 42400401 42400401 single base substitution C T intron_variant MELA-AU 2 42402081 42402081 single base substitution C T intron_variant MELA-AU 2 42402234 42402234 single base substitution C T intron_variant MELA-AU 2 42402591 42402591 single base substitution T A intron_variant MELA-AU 2 42403131 42403131 single base substitution C T intron_variant MELA-AU 2 42403152 42403152 single base substitution C T intron_variant MELA-AU 2 42403748 42403748 single base substitution C T intron_variant MELA-AU 2 42403751 42403751 single base substitution T C intron_variant MELA-AU 2 42404041 42404041 single base substitution C T intron_variant MELA-AU 2 42405399 42405399 single base substitution C T intron_variant MELA-AU 2 42408844 42408844 single base substitution T A intron_variant MELA-AU 2 42409858 42409858 single base substitution C T intron_variant MELA-AU 2 42410072 42410072 single base substitution C T intron_variant MELA-AU 2 42410095 42410096 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 42411862 42411862 single base substitution C T intron_variant MELA-AU 2 42412256 42412256 single base substitution C T intron_variant MELA-AU 2 42412832 42412832 single base substitution G C intron_variant MELA-AU 2 42413553 42413553 single base substitution A C intron_variant MELA-AU 2 42414980 42414980 single base substitution C T intron_variant MELA-AU 2 42415856 42415856 single base substitution G A intron_variant MELA-AU 2 42416494 42416494 single base substitution C T intron_variant MELA-AU 2 42416836 42416836 single base substitution T G intron_variant MELA-AU 2 42417393 42417393 single base substitution C T intron_variant MELA-AU 2 42419722 42419722 single base substitution C T intron_variant MELA-AU 2 42420832 42420832 single base substitution C T intron_variant MELA-AU 2 42421083 42421083 single base substitution C T intron_variant MELA-AU 2 42421683 42421684 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 2 42421968 42421968 single base substitution G A intron_variant MELA-AU 2 42421988 42421988 single base substitution C T intron_variant MELA-AU 2 42422332 42422332 deletion of <=200bp T - intron_variant MELA-AU 2 42423085 42423085 single base substitution C T intron_variant MELA-AU 2 42423840 42423840 single base substitution C T intron_variant MELA-AU 2 42424374 42424374 single base substitution C T intron_variant MELA-AU 2 42424463 42424463 single base substitution C T intron_variant MELA-AU 2 42424690 42424690 single base substitution C T intron_variant MELA-AU 2 42425931 42425931 single base substitution C T intron_variant MELA-AU 2 42426576 42426576 single base substitution A T intron_variant MELA-AU 2 42427670 42427670 single base substitution T A intron_variant MELA-AU 2 42428488 42428488 single base substitution G A intron_variant MELA-AU 2 42428635 42428635 single base substitution C T intron_variant MELA-AU 2 42428647 42428647 single base substitution C T intron_variant MELA-AU 2 42428739 42428739 single base substitution G A intron_variant MELA-AU 2 42429234 42429234 single base substitution A T intron_variant MELA-AU 2 42429266 42429267 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 42429348 42429348 single base substitution T C intron_variant MELA-AU 2 42429671 42429672 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 42429823 42429823 single base substitution C T intron_variant MELA-AU 2 42429920 42429920 single base substitution C T intron_variant MELA-AU 2 42431180 42431180 single base substitution C T intron_variant MELA-AU 2 42432254 42432254 single base substitution T C intron_variant MELA-AU 2 42433540 42433540 single base substitution G T intron_variant MELA-AU 2 42435054 42435054 single base substitution C T intron_variant MELA-AU 2 42435136 42435136 single base substitution C G exon_variant MELA-AU 2 42435136 42435136 single base substitution C G intron_variant MELA-AU 2 42435275 42435275 single base substitution C T intron_variant MELA-AU 2 42437297 42437297 single base substitution C T intron_variant MELA-AU 2 42437643 42437643 single base substitution C T intron_variant MELA-AU 2 42437947 42437947 single base substitution C T intron_variant MELA-AU 2 42438450 42438450 single base substitution A G intron_variant MELA-AU 2 42438729 42438729 single base substitution T C intron_variant MELA-AU 2 42438859 42438859 single base substitution C T intron_variant MELA-AU 2 42439487 42439487 single base substitution T A intron_variant MELA-AU 2 42439711 42439711 single base substitution C T intron_variant MELA-AU 2 42440402 42440402 single base substitution C T intron_variant MELA-AU 2 42441516 42441516 single base substitution C T intron_variant MELA-AU 2 42441577 42441578 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 42442156 42442156 single base substitution T G intron_variant MELA-AU 2 42443342 42443342 single base substitution A G intron_variant MELA-AU 2 42443492 42443492 single base substitution C T intron_variant MELA-AU 2 42443997 42443997 single base substitution T G intron_variant MELA-AU 2 42445572 42445572 single base substitution C T intron_variant MELA-AU 2 42445581 42445581 single base substitution C T intron_variant MELA-AU 2 42445827 42445827 single base substitution A G intron_variant MELA-AU 2 42445942 42445942 single base substitution G A intron_variant MELA-AU 2 42446301 42446301 single base substitution C T intron_variant MELA-AU 2 42446408 42446408 single base substitution A T intron_variant MELA-AU 2 42446650 42446650 single base substitution C T intron_variant MELA-AU 2 42447162 42447162 single base substitution G T intron_variant MELA-AU 2 42447538 42447538 single base substitution C T intron_variant MELA-AU 2 42447557 42447557 single base substitution C T intron_variant MELA-AU 2 42447985 42447985 single base substitution A G intron_variant MELA-AU 2 42448165 42448165 single base substitution C T intron_variant MELA-AU 2 42448940 42448940 single base substitution C T intron_variant MELA-AU 2 42449109 42449109 single base substitution C T intron_variant MELA-AU 2 42449469 42449469 single base substitution C T intron_variant MELA-AU 2 42450164 42450164 single base substitution C T intron_variant MELA-AU 2 42451777 42451777 single base substitution A G intron_variant MELA-AU 2 42452068 42452068 single base substitution C T intron_variant MELA-AU 2 42452700 42452700 single base substitution C T intron_variant MELA-AU 2 42452794 42452794 single base substitution T A intron_variant MELA-AU 2 42453691 42453692 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 42453797 42453801 deletion of <=200bp AAAAT - intron_variant MELA-AU 2 42454450 42454450 single base substitution G A intron_variant MELA-AU 2 42454625 42454625 single base substitution T A intron_variant MELA-AU 2 42456380 42456380 single base substitution A G intron_variant MELA-AU 2 42456900 42456900 single base substitution C T intron_variant MELA-AU 2 42457774 42457774 single base substitution G A intron_variant MELA-AU 2 42459322 42459322 single base substitution C T intron_variant MELA-AU 2 42459716 42459716 single base substitution C A intron_variant MELA-AU 2 42460280 42460280 single base substitution T A intron_variant MELA-AU 2 42460833 42460833 single base substitution T A intron_variant MELA-AU 2 42461616 42461616 single base substitution C T intron_variant MELA-AU 2 42461827 42461827 single base substitution G A intron_variant MELA-AU 2 42462319 42462319 single base substitution C T intron_variant MELA-AU 2 42462868 42462868 single base substitution C T intron_variant MELA-AU 2 42462869 42462869 single base substitution C T intron_variant MELA-AU 2 42463065 42463065 single base substitution G A intron_variant MELA-AU 2 42463787 42463787 single base substitution A C intron_variant MELA-AU 2 42463987 42463987 single base substitution C T intron_variant MELA-AU 2 42464079 42464079 single base substitution T G intron_variant MELA-AU 2 42464131 42464131 single base substitution C T intron_variant MELA-AU 2 42464294 42464294 single base substitution C T intron_variant MELA-AU 2 42464420 42464420 single base substitution C T intron_variant MELA-AU 2 42464461 42464461 single base substitution G A intron_variant MELA-AU 2 42464727 42464727 single base substitution C T intron_variant MELA-AU 2 42465167 42465167 single base substitution G A intron_variant MELA-AU 2 42465410 42465410 single base substitution T C intron_variant MELA-AU 2 42466704 42466704 single base substitution C T intron_variant MELA-AU 2 42467471 42467471 single base substitution C T intron_variant MELA-AU 2 42468562 42468562 single base substitution G T intron_variant MELA-AU 2 42468924 42468924 single base substitution C T intron_variant MELA-AU 2 42470091 42470091 single base substitution C T intron_variant MELA-AU 2 42470555 42470555 single base substitution C T intron_variant MELA-AU 2 42470876 42470876 single base substitution A G intron_variant MELA-AU 2 42470916 42470916 single base substitution C T intron_variant MELA-AU 2 42471214 42471214 single base substitution G C intron_variant MELA-AU 2 42471430 42471430 single base substitution G A intron_variant MELA-AU 2 42471485 42471485 single base substitution C T intron_variant MELA-AU 2 42472237 42472237 insertion of <=200bp - TTTTTTC intron_variant MELA-AU 2 42472238 42472238 insertion of <=200bp - TTTTTC intron_variant MELA-AU 2 42472316 42472316 single base substitution C T intron_variant MELA-AU 2 42472439 42472439 single base substitution T C intron_variant MELA-AU 2 42472491 42472491 single base substitution C T intron_variant MELA-AU 2 42473634 42473635 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 2 42473634 42473635 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 2 42473963 42473963 single base substitution A C downstream_gene_variant MELA-AU 2 42473963 42473963 single base substitution A C intron_variant MELA-AU 2 42474469 42474469 single base substitution T A downstream_gene_variant MELA-AU 2 42474469 42474469 single base substitution T A intron_variant MELA-AU 2 42474545 42474546 multiple base substitution (>=2bp and <=200bp) GG CA downstream_gene_variant MELA-AU 2 42474545 42474546 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 2 42474815 42474815 single base substitution A C downstream_gene_variant MELA-AU 2 42474815 42474815 single base substitution A C intron_variant MELA-AU 2 42475632 42475632 single base substitution G A downstream_gene_variant MELA-AU 2 42475632 42475632 single base substitution G A intron_variant MELA-AU 2 42476313 42476313 single base substitution A G downstream_gene_variant MELA-AU 2 42476313 42476313 single base substitution A G intron_variant MELA-AU 2 42476336 42476336 single base substitution C T downstream_gene_variant MELA-AU 2 42476336 42476336 single base substitution C T intron_variant MELA-AU 2 42476832 42476832 single base substitution C T downstream_gene_variant MELA-AU 2 42476832 42476832 single base substitution C T intron_variant MELA-AU 2 42477714 42477714 single base substitution C T downstream_gene_variant MELA-AU 2 42477714 42477714 single base substitution C T intron_variant MELA-AU 2 42477888 42477888 single base substitution G A intron_variant MELA-AU 2 42478078 42478078 single base substitution C T intron_variant MELA-AU 2 42478103 42478103 single base substitution C T intron_variant MELA-AU 2 42478522 42478522 single base substitution G A intron_variant MELA-AU 2 42479517 42479517 single base substitution C T intron_variant MELA-AU 2 42480031 42480031 single base substitution C T intron_variant MELA-AU 2 42480670 42480670 single base substitution G A intron_variant MELA-AU 2 42480729 42480729 single base substitution C T intron_variant MELA-AU 2 42481555 42481555 single base substitution G A intron_variant MELA-AU 2 42481557 42481557 single base substitution C A intron_variant MELA-AU 2 42481765 42481765 single base substitution T A intron_variant MELA-AU 2 42482250 42482250 single base substitution G A intron_variant MELA-AU 2 42483152 42483152 single base substitution C T intron_variant MELA-AU 2 42483886 42483886 single base substitution T G intron_variant MELA-AU 2 42484092 42484092 single base substitution C T intron_variant MELA-AU 2 42484724 42484724 single base substitution C T intron_variant MELA-AU 2 42484971 42484971 single base substitution C T intron_variant MELA-AU 2 42486239 42486239 single base substitution T C intron_variant MELA-AU 2 42486284 42486284 single base substitution A G intron_variant MELA-AU 2 42486287 42486287 single base substitution T C intron_variant MELA-AU 2 42486938 42486938 single base substitution C T intron_variant MELA-AU 2 42487254 42487254 single base substitution C T intron_variant MELA-AU 2 42487745 42487745 single base substitution T G intron_variant MELA-AU 2 42488311 42488311 single base substitution A G exon_variant MELA-AU 2 42488311 42488311 single base substitution A G intron_variant MELA-AU 2 42488311 42488311 single base substitution A G missense_variant E130G 389A>G MELA-AU 2 42488478 42488478 single base substitution G A exon_variant MELA-AU 2 42488478 42488478 single base substitution G A intron_variant MELA-AU 2 42488546 42488546 single base substitution T C exon_variant MELA-AU 2 42488546 42488546 single base substitution T C intron_variant MELA-AU 2 42488647 42488647 single base substitution A G exon_variant MELA-AU 2 42488647 42488647 single base substitution A G intron_variant MELA-AU 2 42489742 42489742 single base substitution C T downstream_gene_variant MELA-AU 2 42489742 42489742 single base substitution C T intron_variant MELA-AU 2 42490156 42490156 single base substitution T C downstream_gene_variant MELA-AU 2 42490156 42490156 single base substitution T C intron_variant MELA-AU 2 42490368 42490368 single base substitution C T downstream_gene_variant MELA-AU 2 42490368 42490368 single base substitution C T missense_variant S130L 389C>T MELA-AU 2 42490368 42490368 single base substitution C T missense_variant S188L 563C>T MELA-AU 2 42490404 42490404 single base substitution C T downstream_gene_variant MELA-AU 2 42490404 42490404 single base substitution C T missense_variant S142L 425C>T MELA-AU 2 42490404 42490404 single base substitution C T missense_variant S200L 599C>T MELA-AU 2 42490795 42490795 single base substitution C T downstream_gene_variant MELA-AU 2 42490795 42490795 single base substitution C T intron_variant MELA-AU 2 42491472 42491472 single base substitution G A downstream_gene_variant MELA-AU 2 42491472 42491472 single base substitution G A intron_variant MELA-AU 2 42491728 42491728 single base substitution C T downstream_gene_variant MELA-AU 2 42491728 42491728 single base substitution C T intron_variant MELA-AU 2 42492913 42492913 single base substitution C T downstream_gene_variant MELA-AU 2 42492913 42492913 single base substitution C T intron_variant MELA-AU 2 42493720 42493720 single base substitution G A intron_variant MELA-AU 2 42494254 42494254 single base substitution T C intron_variant MELA-AU 2 42494856 42494856 single base substitution T C intron_variant MELA-AU 2 42495668 42495668 single base substitution C T intron_variant MELA-AU 2 42495686 42495686 single base substitution C T intron_variant MELA-AU 2 42497936 42497936 single base substitution C T intron_variant MELA-AU 2 42498073 42498073 single base substitution T C intron_variant MELA-AU 2 42498175 42498175 single base substitution T C intron_variant MELA-AU 2 42498281 42498281 single base substitution G C intron_variant MELA-AU 2 42498848 42498848 single base substitution A G intron_variant MELA-AU 2 42499564 42499564 single base substitution A T intron_variant MELA-AU 2 42499627 42499627 single base substitution C T intron_variant MELA-AU 2 42500773 42500773 single base substitution C T intron_variant MELA-AU 2 42500938 42500938 single base substitution C T intron_variant MELA-AU 2 42501337 42501337 single base substitution C T intron_variant MELA-AU 2 42502414 42502414 single base substitution C T intron_variant MELA-AU 2 42502544 42502544 single base substitution C T intron_variant MELA-AU 2 42503047 42503047 single base substitution C T intron_variant MELA-AU 2 42503492 42503492 single base substitution C T intron_variant MELA-AU 2 42503653 42503653 single base substitution T C intron_variant MELA-AU 2 42503908 42503908 single base substitution G A intron_variant MELA-AU 2 42505353 42505353 single base substitution C T intron_variant MELA-AU 2 42505353 42505353 single base substitution C T upstream_gene_variant MELA-AU 2 42505399 42505399 single base substitution T A intron_variant MELA-AU 2 42505399 42505399 single base substitution T A upstream_gene_variant MELA-AU 2 42505682 42505682 single base substitution C T intron_variant MELA-AU 2 42505682 42505682 single base substitution C T upstream_gene_variant MELA-AU 2 42506331 42506331 single base substitution C T intron_variant MELA-AU 2 42506331 42506331 single base substitution C T upstream_gene_variant MELA-AU 2 42506351 42506351 single base substitution T C intron_variant MELA-AU 2 42506351 42506351 single base substitution T C upstream_gene_variant MELA-AU 2 42506532 42506532 single base substitution C T intron_variant MELA-AU 2 42506532 42506532 single base substitution C T upstream_gene_variant MELA-AU 2 42506659 42506659 single base substitution G A intron_variant MELA-AU 2 42506659 42506659 single base substitution G A upstream_gene_variant MELA-AU 2 42506689 42506689 single base substitution C T intron_variant MELA-AU 2 42506689 42506689 single base substitution C T upstream_gene_variant MELA-AU 2 42508004 42508004 single base substitution A G missense_variant K170E 508A>G MELA-AU 2 42508004 42508004 single base substitution A G missense_variant K228E 682A>G MELA-AU 2 42508004 42508004 single base substitution A G missense_variant K239E 715A>G MELA-AU 2 42508004 42508004 single base substitution A G upstream_gene_variant MELA-AU 2 42508044 42508044 single base substitution C T missense_variant P183L 548C>T MELA-AU 2 42508044 42508044 single base substitution C T missense_variant P241L 722C>T MELA-AU 2 42508044 42508044 single base substitution C T missense_variant P252L 755C>T MELA-AU 2 42508044 42508044 single base substitution C T upstream_gene_variant MELA-AU 2 42508118 42508118 single base substitution C T splice_region_variant MELA-AU 2 42508118 42508118 single base substitution C T upstream_gene_variant MELA-AU 2 42508250 42508250 single base substitution C T intron_variant MELA-AU 2 42508250 42508250 single base substitution C T upstream_gene_variant MELA-AU 2 42508854 42508854 single base substitution C T intron_variant MELA-AU 2 42508854 42508854 single base substitution C T upstream_gene_variant MELA-AU 2 42508929 42508929 single base substitution G A intron_variant MELA-AU 2 42508929 42508929 single base substitution G A upstream_gene_variant MELA-AU 2 42509036 42509036 single base substitution C T intron_variant MELA-AU 2 42509036 42509036 single base substitution C T upstream_gene_variant MELA-AU 2 42509237 42509237 single base substitution C T intron_variant MELA-AU 2 42509237 42509237 single base substitution C T upstream_gene_variant MELA-AU 2 42509494 42509494 single base substitution G A intron_variant MELA-AU 2 42509494 42509494 single base substitution G A upstream_gene_variant MELA-AU 2 42509641 42509641 single base substitution C T intron_variant MELA-AU 2 42509641 42509641 single base substitution C T upstream_gene_variant MELA-AU 2 42509907 42509907 single base substitution C T intron_variant MELA-AU 2 42509907 42509907 single base substitution C T upstream_gene_variant MELA-AU 2 42509955 42509955 single base substitution C T splice_region_variant MELA-AU 2 42509955 42509955 single base substitution C T upstream_gene_variant MELA-AU 2 42511200 42511200 single base substitution C T intron_variant MELA-AU 2 42511200 42511200 single base substitution C T upstream_gene_variant MELA-AU 2 42511519 42511519 single base substitution C T intron_variant MELA-AU 2 42511519 42511519 single base substitution C T upstream_gene_variant MELA-AU 2 42512058 42512058 single base substitution C T intron_variant MELA-AU 2 42512058 42512058 single base substitution C T upstream_gene_variant MELA-AU 2 42512201 42512201 single base substitution T C intron_variant MELA-AU 2 42512201 42512201 single base substitution T C upstream_gene_variant MELA-AU 2 42512250 42512250 single base substitution C T intron_variant MELA-AU 2 42512250 42512250 single base substitution C T upstream_gene_variant MELA-AU 2 42512780 42512780 single base substitution C T intron_variant MELA-AU 2 42512780 42512780 single base substitution C T upstream_gene_variant MELA-AU 2 42515828 42515828 single base substitution C T exon_variant MELA-AU 2 42515828 42515828 single base substitution C T intron_variant MELA-AU 2 42516449 42516449 single base substitution C T exon_variant MELA-AU 2 42516449 42516449 single base substitution C T intron_variant MELA-AU 2 42516645 42516645 single base substitution C T exon_variant MELA-AU 2 42516645 42516645 single base substitution C T intron_variant MELA-AU 2 42516818 42516818 single base substitution C T exon_variant MELA-AU 2 42516818 42516818 single base substitution C T intron_variant MELA-AU 2 42516845 42516845 single base substitution C T exon_variant MELA-AU 2 42516845 42516845 single base substitution C T intron_variant MELA-AU 2 42517036 42517036 single base substitution C T exon_variant MELA-AU 2 42517036 42517036 single base substitution C T intron_variant MELA-AU 2 42517911 42517911 single base substitution C T downstream_gene_variant MELA-AU 2 42517911 42517911 single base substitution C T intron_variant MELA-AU 2 42518223 42518223 single base substitution G A downstream_gene_variant MELA-AU 2 42518223 42518223 single base substitution G A intron_variant MELA-AU 2 42518447 42518447 single base substitution T C downstream_gene_variant MELA-AU 2 42518447 42518447 single base substitution T C intron_variant MELA-AU 2 42518742 42518742 single base substitution C T downstream_gene_variant MELA-AU 2 42518742 42518742 single base substitution C T intron_variant MELA-AU 2 42518843 42518843 single base substitution G A downstream_gene_variant MELA-AU 2 42518843 42518843 single base substitution G A intron_variant MELA-AU 2 42518913 42518913 single base substitution C T downstream_gene_variant MELA-AU 2 42518913 42518913 single base substitution C T intron_variant MELA-AU 2 42519886 42519886 single base substitution T C downstream_gene_variant MELA-AU 2 42519886 42519886 single base substitution T C intron_variant MELA-AU 2 42520033 42520033 single base substitution G A downstream_gene_variant MELA-AU 2 42520033 42520033 single base substitution G A intron_variant MELA-AU 2 42520339 42520339 single base substitution C T downstream_gene_variant MELA-AU 2 42520339 42520339 single base substitution C T intron_variant MELA-AU 2 42520764 42520764 single base substitution C T downstream_gene_variant MELA-AU 2 42520764 42520764 single base substitution C T intron_variant MELA-AU 2 42520987 42520987 single base substitution G T downstream_gene_variant MELA-AU 2 42520987 42520987 single base substitution G T intron_variant MELA-AU 2 42521044 42521044 single base substitution C A downstream_gene_variant MELA-AU 2 42521044 42521044 single base substitution C A intron_variant MELA-AU 2 42521399 42521399 single base substitution G A downstream_gene_variant MELA-AU 2 42521399 42521399 single base substitution G A intron_variant MELA-AU 2 42521790 42521790 single base substitution C T downstream_gene_variant MELA-AU 2 42521790 42521790 single base substitution C T intron_variant MELA-AU 2 42522253 42522253 single base substitution C T intron_variant MELA-AU 2 42522513 42522513 single base substitution C G splice_region_variant MELA-AU 2 42522680 42522680 single base substitution C T intron_variant MELA-AU 2 42524114 42524114 single base substitution C T intron_variant MELA-AU 2 42524114 42524114 single base substitution C T upstream_gene_variant MELA-AU 2 42524240 42524240 single base substitution C T intron_variant MELA-AU 2 42524240 42524240 single base substitution C T upstream_gene_variant MELA-AU 2 42524735 42524735 single base substitution G A intron_variant MELA-AU 2 42524735 42524735 single base substitution G A upstream_gene_variant MELA-AU 2 42525305 42525305 single base substitution T A intron_variant MELA-AU 2 42525305 42525305 single base substitution T A upstream_gene_variant MELA-AU 2 42526643 42526644 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 42526643 42526644 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 42526772 42526772 single base substitution C T intron_variant MELA-AU 2 42526772 42526772 single base substitution C T upstream_gene_variant MELA-AU 2 42526787 42526787 single base substitution C T intron_variant MELA-AU 2 42526787 42526787 single base substitution C T upstream_gene_variant MELA-AU 2 42526860 42526860 single base substitution A T intron_variant MELA-AU 2 42526860 42526860 single base substitution A T upstream_gene_variant MELA-AU 2 42527177 42527177 single base substitution C T intron_variant MELA-AU 2 42527177 42527177 single base substitution C T upstream_gene_variant MELA-AU 2 42527805 42527805 single base substitution C T intron_variant MELA-AU 2 42527805 42527805 single base substitution C T upstream_gene_variant MELA-AU 2 42528655 42528655 single base substitution C T intron_variant MELA-AU 2 42529882 42529882 single base substitution C T intron_variant MELA-AU 2 42530497 42530497 single base substitution A T 5_prime_UTR_variant MELA-AU 2 42530497 42530497 single base substitution A T exon_variant MELA-AU 2 42530497 42530497 single base substitution A T stop_gained K546* 1636A>T MELA-AU 2 42530497 42530497 single base substitution A T stop_gained K604* 1810A>T MELA-AU 2 42530497 42530497 single base substitution A T stop_gained K615* 1843A>T MELA-AU 2 42531821 42531821 single base substitution G A intron_variant MELA-AU 2 42532443 42532443 single base substitution G A intron_variant MELA-AU 2 42532771 42532771 single base substitution G T intron_variant MELA-AU 2 42532991 42532991 single base substitution C T intron_variant MELA-AU 2 42533151 42533151 single base substitution C T intron_variant MELA-AU 2 42533468 42533468 single base substitution G A intron_variant MELA-AU 2 42534634 42534634 single base substitution T C intron_variant MELA-AU 2 42534893 42534893 single base substitution A G intron_variant MELA-AU 2 42535386 42535386 single base substitution T C intron_variant MELA-AU 2 42536897 42536897 single base substitution G A intron_variant MELA-AU 2 42537452 42537452 single base substitution C T intron_variant MELA-AU 2 42537458 42537458 single base substitution C T intron_variant MELA-AU 2 42537489 42537489 single base substitution C T intron_variant MELA-AU 2 42538012 42538012 single base substitution C T intron_variant MELA-AU 2 42538355 42538355 single base substitution C T intron_variant MELA-AU 2 42539899 42539899 single base substitution T A intron_variant MELA-AU 2 42539899 42539899 single base substitution T A upstream_gene_variant MELA-AU 2 42540268 42540268 single base substitution T C intron_variant MELA-AU 2 42540268 42540268 single base substitution T C upstream_gene_variant MELA-AU 2 42540399 42540399 single base substitution C G intron_variant MELA-AU 2 42540399 42540399 single base substitution C G upstream_gene_variant MELA-AU 2 42540688 42540688 single base substitution C T intron_variant MELA-AU 2 42540688 42540688 single base substitution C T upstream_gene_variant MELA-AU 2 42540966 42540966 single base substitution G A intron_variant MELA-AU 2 42540966 42540966 single base substitution G A upstream_gene_variant MELA-AU 2 42543014 42543014 single base substitution C T intron_variant MELA-AU 2 42543014 42543014 single base substitution C T upstream_gene_variant MELA-AU 2 42543573 42543573 single base substitution C G intron_variant MELA-AU 2 42543573 42543573 single base substitution C G upstream_gene_variant MELA-AU 2 42543800 42543800 single base substitution C G intron_variant MELA-AU 2 42543800 42543800 single base substitution C G upstream_gene_variant MELA-AU 2 42543890 42543890 single base substitution C T intron_variant MELA-AU 2 42543890 42543890 single base substitution C T upstream_gene_variant MELA-AU 2 42544518 42544518 single base substitution A G intron_variant MELA-AU 2 42544518 42544518 single base substitution A G upstream_gene_variant MELA-AU 2 42544862 42544863 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 2 42547349 42547349 single base substitution A G downstream_gene_variant MELA-AU 2 42547349 42547349 single base substitution A G intron_variant MELA-AU 2 42547432 42547432 single base substitution C T downstream_gene_variant MELA-AU 2 42547432 42547432 single base substitution C T intron_variant MELA-AU 2 42547551 42547551 single base substitution A G downstream_gene_variant MELA-AU 2 42547551 42547551 single base substitution A G intron_variant MELA-AU 2 42547880 42547880 single base substitution T A downstream_gene_variant MELA-AU 2 42547880 42547880 single base substitution T A intron_variant MELA-AU 2 42547883 42547883 single base substitution T A downstream_gene_variant MELA-AU 2 42547883 42547883 single base substitution T A intron_variant MELA-AU 2 42548160 42548160 single base substitution A T downstream_gene_variant MELA-AU 2 42548160 42548160 single base substitution A T intron_variant MELA-AU 2 42548167 42548167 single base substitution G C downstream_gene_variant MELA-AU 2 42548167 42548167 single base substitution G C intron_variant MELA-AU 2 42553604 42553604 single base substitution G A intron_variant MELA-AU 2 42554923 42554923 single base substitution A G intron_variant MELA-AU 2 42555139 42555140 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 42555291 42555291 single base substitution A G intron_variant MELA-AU 2 42556024 42556024 single base substitution A G splice_acceptor_variant MELA-AU 2 42556331 42556331 single base substitution C T intron_variant MELA-AU 2 42556640 42556640 single base substitution A T intron_variant MELA-AU 2 42558821 42558821 single base substitution A T 3_prime_UTR_variant MELA-AU 2 42558821 42558821 single base substitution A T downstream_gene_variant MELA-AU 2 42558821 42558821 single base substitution A T exon_variant MELA-AU 2 42562264 42562264 single base substitution C T downstream_gene_variant MELA-AU 2 42563194 42563194 single base substitution A C downstream_gene_variant MELA-AU 2 42563985 42563985 single base substitution C T downstream_gene_variant MELA-AU 2 42564066 42564066 single base substitution G A downstream_gene_variant ORCA-IN 2 42393978 42393978 single base substitution G C upstream_gene_variant ORCA-IN 2 42399686 42399686 single base substitution C T intron_variant ORCA-IN 2 42408467 42408467 single base substitution C G intron_variant ORCA-IN 2 42409295 42409295 single base substitution C T intron_variant ORCA-IN 2 42420099 42420099 single base substitution G A intron_variant ORCA-IN 2 42461609 42461609 single base substitution A G intron_variant ORCA-IN 2 42526169 42526169 single base substitution G C intron_variant ORCA-IN 2 42526169 42526169 single base substitution G C upstream_gene_variant ORCA-IN 2 42537170 42537170 single base substitution T A intron_variant ORCA-IN 2 42547465 42547465 deletion of <=200bp T - downstream_gene_variant ORCA-IN 2 42547465 42547465 deletion of <=200bp T - intron_variant ORCA-IN 2 42561127 42561127 single base substitution A G downstream_gene_variant OV-AU 2 42397540 42397540 single base substitution C T intron_variant OV-AU 2 42400726 42400726 single base substitution C T intron_variant OV-AU 2 42411923 42411923 single base substitution G A intron_variant OV-AU 2 42415242 42415242 single base substitution G A intron_variant OV-AU 2 42418094 42418094 single base substitution A G intron_variant OV-AU 2 42421648 42421648 single base substitution T A intron_variant OV-AU 2 42425007 42425007 single base substitution T C intron_variant OV-AU 2 42426702 42426702 single base substitution G C intron_variant OV-AU 2 42430856 42430856 single base substitution A G intron_variant OV-AU 2 42431303 42431303 single base substitution T A intron_variant OV-AU 2 42460099 42460099 single base substitution T C intron_variant OV-AU 2 42478307 42478307 single base substitution G T intron_variant OV-AU 2 42480635 42480635 single base substitution A G intron_variant OV-AU 2 42480940 42480940 single base substitution C A intron_variant OV-AU 2 42483531 42483531 single base substitution T G intron_variant OV-AU 2 42499856 42499856 single base substitution A G intron_variant OV-AU 2 42503492 42503492 single base substitution C A intron_variant OV-AU 2 42503956 42503956 single base substitution G A intron_variant OV-AU 2 42518974 42518974 single base substitution T G downstream_gene_variant OV-AU 2 42518974 42518974 single base substitution T G intron_variant OV-AU 2 42520351 42520351 single base substitution T C downstream_gene_variant OV-AU 2 42520351 42520351 single base substitution T C intron_variant OV-AU 2 42529330 42529330 single base substitution G C intron_variant OV-AU 2 42530222 42530222 single base substitution G T intron_variant OV-AU 2 42540911 42540911 single base substitution T C intron_variant OV-AU 2 42540911 42540911 single base substitution T C upstream_gene_variant OV-AU 2 42547469 42547469 single base substitution A G downstream_gene_variant OV-AU 2 42547469 42547469 single base substitution A G intron_variant OV-AU 2 42554627 42554627 single base substitution G A intron_variant OV-AU 2 42557733 42557733 single base substitution C G 3_prime_UTR_variant OV-AU 2 42557733 42557733 single base substitution C G downstream_gene_variant OV-AU 2 42557733 42557733 single base substitution C G exon_variant OV-AU 2 42558715 42558715 single base substitution G A 3_prime_UTR_variant OV-AU 2 42558715 42558715 single base substitution G A downstream_gene_variant OV-AU 2 42558715 42558715 single base substitution G A exon_variant OV-AU 2 42561333 42561333 single base substitution A G downstream_gene_variant OV-AU 2 42562306 42562306 single base substitution C T downstream_gene_variant OV-US 2 42522282 42522282 single base substitution T A exon_variant OV-US 2 42522282 42522282 single base substitution T A synonymous_variant V354V 1062T>A OV-US 2 42522282 42522282 single base substitution T A synonymous_variant V412V 1236T>A OV-US 2 42522282 42522282 single base substitution T A synonymous_variant V423V 1269T>A OV-US 2 42556028 42556028 single base substitution G C missense_variant V46L 136G>C OV-US 2 42556028 42556028 single base substitution G C missense_variant V724L 2170G>C OV-US 2 42556028 42556028 single base substitution G C missense_variant V782L 2344G>C OV-US 2 42556028 42556028 single base substitution G C missense_variant V793L 2377G>C OV-US 2 42556028 42556028 single base substitution G C splice_region_variant PACA-AU 2 42396432 42396432 deletion of <=200bp G - upstream_gene_variant PACA-AU 2 42398567 42398567 single base substitution T C intron_variant PACA-AU 2 42399831 42399831 single base substitution T C intron_variant PACA-AU 2 42400473 42400473 single base substitution C G intron_variant PACA-AU 2 42404607 42404607 deletion of <=200bp A - intron_variant PACA-AU 2 42414011 42414011 single base substitution A G intron_variant PACA-AU 2 42416957 42416957 single base substitution T C intron_variant PACA-AU 2 42420067 42420067 insertion of <=200bp - T intron_variant PACA-AU 2 42423680 42423680 single base substitution A G intron_variant PACA-AU 2 42435843 42435843 single base substitution G C intron_variant PACA-AU 2 42436762 42436762 single base substitution A G intron_variant PACA-AU 2 42436797 42436797 single base substitution C T intron_variant PACA-AU 2 42439094 42439094 single base substitution C T intron_variant PACA-AU 2 42439700 42439700 single base substitution C T intron_variant PACA-AU 2 42460454 42460454 single base substitution T C intron_variant PACA-AU 2 42462383 42462383 single base substitution C T intron_variant PACA-AU 2 42463632 42463632 single base substitution G A intron_variant PACA-AU 2 42463979 42463979 single base substitution G A intron_variant PACA-AU 2 42471247 42471247 insertion of <=200bp - TG intron_variant PACA-AU 2 42472425 42472425 single base substitution G A intron_variant PACA-AU 2 42476173 42476173 single base substitution G T downstream_gene_variant PACA-AU 2 42476173 42476173 single base substitution G T intron_variant PACA-AU 2 42490397 42490397 single base substitution A G downstream_gene_variant PACA-AU 2 42490397 42490397 single base substitution A G missense_variant I140V 418A>G PACA-AU 2 42490397 42490397 single base substitution A G missense_variant I198V 592A>G PACA-AU 2 42491259 42491259 single base substitution T G downstream_gene_variant PACA-AU 2 42491259 42491259 single base substitution T G intron_variant PACA-AU 2 42498060 42498060 deletion of <=200bp G - intron_variant PACA-AU 2 42506921 42506921 single base substitution T A intron_variant PACA-AU 2 42506921 42506921 single base substitution T A upstream_gene_variant PACA-AU 2 42508419 42508419 single base substitution G A intron_variant PACA-AU 2 42508419 42508419 single base substitution G A upstream_gene_variant PACA-AU 2 42509252 42509252 single base substitution C T intron_variant PACA-AU 2 42509252 42509252 single base substitution C T upstream_gene_variant PACA-AU 2 42510318 42510318 single base substitution A G intron_variant PACA-AU 2 42510318 42510318 single base substitution A G upstream_gene_variant PACA-AU 2 42519237 42519237 single base substitution T C downstream_gene_variant PACA-AU 2 42519237 42519237 single base substitution T C intron_variant PACA-AU 2 42520675 42520675 single base substitution C T downstream_gene_variant PACA-AU 2 42520675 42520675 single base substitution C T intron_variant PACA-AU 2 42523782 42523782 single base substitution C A intron_variant PACA-AU 2 42523782 42523782 single base substitution C A upstream_gene_variant PACA-AU 2 42525729 42525729 single base substitution T C intron_variant PACA-AU 2 42525729 42525729 single base substitution T C upstream_gene_variant PACA-AU 2 42526143 42526143 single base substitution C T intron_variant PACA-AU 2 42526143 42526143 single base substitution C T upstream_gene_variant PACA-AU 2 42534025 42534025 single base substitution C T intron_variant PACA-AU 2 42537697 42537697 single base substitution G C intron_variant PACA-AU 2 42539046 42539046 single base substitution C T intron_variant PACA-AU 2 42541020 42541020 single base substitution A G intron_variant PACA-AU 2 42541020 42541020 single base substitution A G upstream_gene_variant PACA-AU 2 42546307 42546307 single base substitution C T intron_variant PACA-AU 2 42556996 42556996 single base substitution G A exon_variant PACA-AU 2 42556996 42556996 single base substitution G A synonymous_variant V129V 387G>A PACA-AU 2 42556996 42556996 single base substitution G A synonymous_variant V807V 2421G>A PACA-AU 2 42556996 42556996 single base substitution G A synonymous_variant V865V 2595G>A PACA-AU 2 42556996 42556996 single base substitution G A synonymous_variant V876V 2628G>A PACA-AU 2 42562387 42562387 single base substitution G T downstream_gene_variant PACA-AU 2 42562564 42562564 single base substitution A T downstream_gene_variant PACA-AU 2 42563202 42563202 single base substitution C A downstream_gene_variant PACA-CA 2 42395397 42395397 single base substitution T C upstream_gene_variant PACA-CA 2 42396361 42396361 single base substitution T C upstream_gene_variant PACA-CA 2 42400825 42400825 insertion of <=200bp - A intron_variant PACA-CA 2 42401378 42401378 single base substitution C T intron_variant PACA-CA 2 42402235 42402235 single base substitution G A intron_variant PACA-CA 2 42405127 42405127 single base substitution A G intron_variant PACA-CA 2 42410546 42410546 single base substitution C T intron_variant PACA-CA 2 42412231 42412231 single base substitution C T intron_variant PACA-CA 2 42415190 42415190 insertion of <=200bp - T intron_variant PACA-CA 2 42418543 42418543 single base substitution T A intron_variant PACA-CA 2 42418585 42418585 single base substitution C A intron_variant PACA-CA 2 42424808 42424808 single base substitution T C intron_variant PACA-CA 2 42428242 42428242 single base substitution G T intron_variant PACA-CA 2 42430576 42430576 deletion of <=200bp T - intron_variant PACA-CA 2 42434708 42434708 insertion of <=200bp - T intron_variant PACA-CA 2 42434759 42434759 single base substitution T C intron_variant PACA-CA 2 42435163 42435163 single base substitution G A exon_variant PACA-CA 2 42435163 42435163 single base substitution G A intron_variant PACA-CA 2 42442701 42442701 single base substitution A T intron_variant PACA-CA 2 42444954 42444954 single base substitution G T intron_variant PACA-CA 2 42445371 42445371 single base substitution G A intron_variant PACA-CA 2 42448319 42448319 single base substitution A T intron_variant PACA-CA 2 42448727 42448727 insertion of <=200bp - T intron_variant PACA-CA 2 42449383 42449383 single base substitution A T intron_variant PACA-CA 2 42454932 42454932 insertion of <=200bp - T intron_variant PACA-CA 2 42456882 42456882 single base substitution C A intron_variant PACA-CA 2 42459323 42459323 single base substitution G T intron_variant PACA-CA 2 42474810 42474810 single base substitution T C downstream_gene_variant PACA-CA 2 42474810 42474810 single base substitution T C intron_variant PACA-CA 2 42482147 42482155 deletion of <=200bp AAGCCAAAC - intron_variant PACA-CA 2 42482950 42482963 deletion of <=200bp GCAGTGTTATACCA - intron_variant PACA-CA 2 42483076 42483076 single base substitution T C intron_variant PACA-CA 2 42483270 42483270 single base substitution T G intron_variant PACA-CA 2 42487186 42487186 single base substitution A T intron_variant PACA-CA 2 42492553 42492553 single base substitution T C downstream_gene_variant PACA-CA 2 42492553 42492553 single base substitution T C intron_variant PACA-CA 2 42492665 42492665 single base substitution C T downstream_gene_variant PACA-CA 2 42492665 42492665 single base substitution C T intron_variant PACA-CA 2 42495236 42495236 single base substitution C T intron_variant PACA-CA 2 42495886 42495886 single base substitution T G intron_variant PACA-CA 2 42496763 42496763 single base substitution G A intron_variant PACA-CA 2 42496900 42496900 deletion of <=200bp A - intron_variant PACA-CA 2 42499198 42499198 single base substitution G A intron_variant PACA-CA 2 42504404 42504404 single base substitution A T intron_variant PACA-CA 2 42505560 42505560 single base substitution A G intron_variant PACA-CA 2 42505560 42505560 single base substitution A G upstream_gene_variant PACA-CA 2 42506805 42506805 single base substitution G A intron_variant PACA-CA 2 42506805 42506805 single base substitution G A upstream_gene_variant PACA-CA 2 42506921 42506921 insertion of <=200bp - TTA intron_variant PACA-CA 2 42506921 42506921 insertion of <=200bp - TTA upstream_gene_variant PACA-CA 2 42508849 42508849 single base substitution T G intron_variant PACA-CA 2 42508849 42508849 single base substitution T G upstream_gene_variant PACA-CA 2 42510455 42510455 single base substitution G A intron_variant PACA-CA 2 42510455 42510455 single base substitution G A upstream_gene_variant PACA-CA 2 42520261 42520261 single base substitution C T downstream_gene_variant PACA-CA 2 42520261 42520261 single base substitution C T intron_variant PACA-CA 2 42521770 42521770 single base substitution A T downstream_gene_variant PACA-CA 2 42521770 42521770 single base substitution A T intron_variant PACA-CA 2 42522806 42522806 deletion of <=200bp T - intron_variant PACA-CA 2 42523915 42523948 deletion of <=200bp TTTCGCATTACTGTTTTCTTATGACTGCACAGAG - intron_variant PACA-CA 2 42523915 42523948 deletion of <=200bp TTTCGCATTACTGTTTTCTTATGACTGCACAGAG - upstream_gene_variant PACA-CA 2 42535382 42535382 single base substitution C T intron_variant PACA-CA 2 42537631 42537631 single base substitution G A intron_variant PACA-CA 2 42542718 42542718 deletion of <=200bp A - intron_variant PACA-CA 2 42542718 42542718 deletion of <=200bp A - upstream_gene_variant PACA-CA 2 42543494 42543494 single base substitution G A intron_variant PACA-CA 2 42543494 42543494 single base substitution G A upstream_gene_variant PACA-CA 2 42546161 42546161 deletion of <=200bp T - intron_variant PACA-CA 2 42547468 42547468 single base substitution T A downstream_gene_variant PACA-CA 2 42547468 42547468 single base substitution T A intron_variant PACA-CA 2 42548222 42548224 deletion of <=200bp AAG - downstream_gene_variant PACA-CA 2 42548222 42548224 deletion of <=200bp AAG - intron_variant PACA-CA 2 42548391 42548391 single base substitution C T downstream_gene_variant PACA-CA 2 42548391 42548391 single base substitution C T intron_variant PACA-CA 2 42552555 42552555 single base substitution T G intron_variant PACA-CA 2 42552972 42552972 single base substitution T C intron_variant PACA-CA 2 42558549 42558549 deletion of <=200bp T - 3_prime_UTR_variant PACA-CA 2 42558549 42558549 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 42558549 42558549 deletion of <=200bp T - exon_variant PACA-CA 2 42560389 42560389 single base substitution C G downstream_gene_variant PACA-CA 2 42562962 42562964 deletion of <=200bp AGA - downstream_gene_variant PAEN-AU 2 42397018 42397018 single base substitution C T intron_variant PAEN-AU 2 42471926 42471926 single base substitution G T intron_variant PAEN-AU 2 42471927 42471927 single base substitution C T intron_variant PAEN-AU 2 42480350 42480350 single base substitution A G intron_variant PAEN-AU 2 42524980 42524980 single base substitution G A intron_variant PAEN-AU 2 42524980 42524980 single base substitution G A upstream_gene_variant PAEN-AU 2 42525031 42525031 single base substitution A G intron_variant PAEN-AU 2 42525031 42525031 single base substitution A G upstream_gene_variant PAEN-IT 2 42414117 42414117 single base substitution C A intron_variant PAEN-IT 2 42415965 42415965 single base substitution C G intron_variant PAEN-IT 2 42416998 42416998 single base substitution C T intron_variant PAEN-IT 2 42436064 42436064 single base substitution A G intron_variant PAEN-IT 2 42437480 42437480 single base substitution G A intron_variant PAEN-IT 2 42461572 42461572 single base substitution G A intron_variant PAEN-IT 2 42472299 42472299 single base substitution A G intron_variant PAEN-IT 2 42486124 42486124 single base substitution C T intron_variant PAEN-IT 2 42545414 42545414 single base substitution T G intron_variant PBCA-DE 2 42411757 42411757 single base substitution T A intron_variant PBCA-DE 2 42413187 42413187 insertion of <=200bp - A intron_variant PBCA-DE 2 42417140 42417140 deletion of <=200bp T - intron_variant PBCA-DE 2 42419098 42419098 single base substitution G A intron_variant PBCA-DE 2 42430781 42430781 single base substitution T C intron_variant PBCA-DE 2 42439656 42439656 single base substitution G T intron_variant PBCA-DE 2 42442823 42442823 single base substitution C T intron_variant PBCA-DE 2 42444711 42444711 single base substitution G T intron_variant PBCA-DE 2 42459399 42459399 insertion of <=200bp - A intron_variant PBCA-DE 2 42467014 42467014 single base substitution T C intron_variant PBCA-DE 2 42481349 42481349 single base substitution C T intron_variant PBCA-DE 2 42487721 42487721 single base substitution C T intron_variant PBCA-DE 2 42502995 42502995 single base substitution T C intron_variant PBCA-DE 2 42511827 42511827 single base substitution T C exon_variant PBCA-DE 2 42511827 42511827 single base substitution T C missense_variant V274A 821T>C PBCA-DE 2 42511827 42511827 single base substitution T C missense_variant V332A 995T>C PBCA-DE 2 42511827 42511827 single base substitution T C missense_variant V343A 1028T>C PBCA-DE 2 42511827 42511827 single base substitution T C upstream_gene_variant PBCA-DE 2 42523618 42523619 deletion of <=200bp TC - intron_variant PBCA-DE 2 42523618 42523619 deletion of <=200bp TC - upstream_gene_variant PBCA-DE 2 42537937 42537937 insertion of <=200bp - T intron_variant PRAD-CA 2 42404946 42404946 single base substitution G T intron_variant PRAD-CA 2 42419491 42419491 single base substitution C A intron_variant PRAD-CA 2 42421844 42421844 single base substitution T C intron_variant PRAD-CA 2 42428226 42428226 single base substitution A G intron_variant PRAD-CA 2 42442370 42442370 single base substitution T C intron_variant PRAD-CA 2 42460453 42460453 single base substitution T C intron_variant PRAD-CA 2 42471221 42471221 single base substitution G T intron_variant PRAD-CA 2 42491256 42491256 single base substitution T G downstream_gene_variant PRAD-CA 2 42491256 42491256 single base substitution T G intron_variant PRAD-CA 2 42491257 42491257 single base substitution T G downstream_gene_variant PRAD-CA 2 42491257 42491257 single base substitution T G intron_variant PRAD-CA 2 42495481 42495481 single base substitution C G intron_variant PRAD-CA 2 42518616 42518616 single base substitution C A downstream_gene_variant PRAD-CA 2 42518616 42518616 single base substitution C A intron_variant PRAD-CA 2 42518616 42518616 single base substitution C G downstream_gene_variant PRAD-CA 2 42518616 42518616 single base substitution C G intron_variant PRAD-CA 2 42540823 42540823 single base substitution G A intron_variant PRAD-CA 2 42540823 42540823 single base substitution G A upstream_gene_variant PRAD-CA 2 42561529 42561529 single base substitution G C downstream_gene_variant PRAD-UK 2 42391957 42391957 single base substitution T A upstream_gene_variant PRAD-UK 2 42399058 42399062 deletion of <=200bp GCTCA - intron_variant PRAD-UK 2 42413426 42413426 single base substitution C T intron_variant PRAD-UK 2 42414826 42414826 deletion of <=200bp T - intron_variant PRAD-UK 2 42429932 42429932 single base substitution C T intron_variant PRAD-UK 2 42432681 42432681 single base substitution A G intron_variant PRAD-UK 2 42444572 42444572 single base substitution T C intron_variant PRAD-UK 2 42468643 42468643 single base substitution C T intron_variant PRAD-UK 2 42497772 42497772 single base substitution G T intron_variant PRAD-UK 2 42506302 42506302 single base substitution G A intron_variant PRAD-UK 2 42506302 42506302 single base substitution G A upstream_gene_variant PRAD-UK 2 42518697 42518697 single base substitution C A downstream_gene_variant PRAD-UK 2 42518697 42518697 single base substitution C A intron_variant PRAD-UK 2 42525636 42525636 single base substitution C G intron_variant PRAD-UK 2 42525636 42525636 single base substitution C G upstream_gene_variant PRAD-UK 2 42533734 42533734 single base substitution G A intron_variant PRAD-UK 2 42543378 42543378 single base substitution A G intron_variant PRAD-UK 2 42543378 42543378 single base substitution A G upstream_gene_variant PRAD-UK 2 42558510 42558510 single base substitution C G 3_prime_UTR_variant PRAD-UK 2 42558510 42558510 single base substitution C G downstream_gene_variant PRAD-UK 2 42558510 42558510 single base substitution C G exon_variant PRAD-UK 2 42561579 42561579 single base substitution A T downstream_gene_variant PRAD-US 2 42513409 42513409 single base substitution C T exon_variant PRAD-US 2 42513409 42513409 single base substitution C T missense_variant P280S 838C>T PRAD-US 2 42513409 42513409 single base substitution C T missense_variant P338S 1012C>T PRAD-US 2 42513409 42513409 single base substitution C T missense_variant P349S 1045C>T PRAD-US 2 42513409 42513409 single base substitution C T splice_region_variant PRAD-US 2 42543187 42543187 single base substitution A T exon_variant PRAD-US 2 42543187 42543187 single base substitution A T intron_variant PRAD-US 2 42543187 42543187 single base substitution A T missense_variant I627L 1879A>T PRAD-US 2 42543187 42543187 single base substitution A T missense_variant I685L 2053A>T PRAD-US 2 42543187 42543187 single base substitution A T missense_variant I696L 2086A>T PRAD-US 2 42543187 42543187 single base substitution A T upstream_gene_variant READ-US 2 42490427 42490427 single base substitution G T downstream_gene_variant READ-US 2 42490427 42490427 single base substitution G T missense_variant V150F 448G>T READ-US 2 42490427 42490427 single base substitution G T missense_variant V208F 622G>T RECA-EU 2 42398062 42398062 single base substitution G A intron_variant RECA-EU 2 42400601 42400601 single base substitution G A intron_variant RECA-EU 2 42402433 42402433 single base substitution T G intron_variant RECA-EU 2 42410033 42410033 single base substitution G A intron_variant RECA-EU 2 42410034 42410034 single base substitution T C intron_variant RECA-EU 2 42416957 42416957 single base substitution T C intron_variant RECA-EU 2 42420506 42420506 single base substitution A C intron_variant RECA-EU 2 42437938 42437938 single base substitution A T intron_variant RECA-EU 2 42441025 42441025 single base substitution T A intron_variant RECA-EU 2 42453992 42453992 single base substitution A G intron_variant RECA-EU 2 42465391 42465391 single base substitution A C intron_variant RECA-EU 2 42467337 42467337 single base substitution A G intron_variant RECA-EU 2 42468835 42468835 single base substitution T G intron_variant RECA-EU 2 42473706 42473706 single base substitution T A downstream_gene_variant RECA-EU 2 42473706 42473706 single base substitution T A intron_variant RECA-EU 2 42473903 42473903 single base substitution G C downstream_gene_variant RECA-EU 2 42473903 42473903 single base substitution G C intron_variant RECA-EU 2 42486866 42486866 single base substitution T C intron_variant RECA-EU 2 42486869 42486869 single base substitution T C intron_variant RECA-EU 2 42486870 42486870 single base substitution T C intron_variant RECA-EU 2 42492773 42492773 single base substitution C A downstream_gene_variant RECA-EU 2 42492773 42492773 single base substitution C A intron_variant RECA-EU 2 42512559 42512559 single base substitution A T intron_variant RECA-EU 2 42512559 42512559 single base substitution A T upstream_gene_variant RECA-EU 2 42513309 42513309 single base substitution T A exon_variant RECA-EU 2 42513309 42513309 single base substitution T A intron_variant RECA-EU 2 42528831 42528831 single base substitution T C intron_variant RECA-EU 2 42534552 42534552 single base substitution C T intron_variant RECA-EU 2 42537229 42537229 single base substitution T C intron_variant RECA-EU 2 42538282 42538282 single base substitution T C intron_variant RECA-EU 2 42542116 42542116 single base substitution G A intron_variant RECA-EU 2 42542116 42542116 single base substitution G A upstream_gene_variant RECA-EU 2 42542132 42542132 single base substitution A C intron_variant RECA-EU 2 42542132 42542132 single base substitution A C upstream_gene_variant RECA-EU 2 42545029 42545029 single base substitution A T intron_variant RECA-EU 2 42545030 42545030 single base substitution C T intron_variant RECA-EU 2 42554413 42554413 single base substitution T G intron_variant SKCA-BR 2 42395536 42395536 single base substitution G A upstream_gene_variant SKCA-BR 2 42396407 42396407 single base substitution G A upstream_gene_variant SKCA-BR 2 42396419 42396419 single base substitution G A upstream_gene_variant SKCA-BR 2 42402582 42402582 single base substitution G T intron_variant SKCA-BR 2 42405098 42405098 single base substitution G A intron_variant SKCA-BR 2 42406728 42406728 single base substitution T C intron_variant SKCA-BR 2 42408483 42408483 single base substitution G C intron_variant SKCA-BR 2 42409980 42409980 single base substitution C T intron_variant SKCA-BR 2 42415558 42415558 single base substitution T C intron_variant SKCA-BR 2 42426937 42426937 single base substitution A C intron_variant SKCA-BR 2 42429666 42429666 single base substitution A G intron_variant SKCA-BR 2 42430809 42430809 single base substitution C T intron_variant SKCA-BR 2 42433988 42433988 single base substitution C T intron_variant SKCA-BR 2 42434454 42434454 single base substitution T C intron_variant SKCA-BR 2 42435388 42435388 single base substitution C T intron_variant SKCA-BR 2 42435574 42435574 single base substitution C T intron_variant SKCA-BR 2 42439349 42439349 single base substitution G A intron_variant SKCA-BR 2 42442005 42442005 single base substitution C T intron_variant SKCA-BR 2 42444699 42444699 single base substitution T C intron_variant SKCA-BR 2 42444923 42444923 single base substitution C T intron_variant SKCA-BR 2 42445722 42445722 single base substitution C G intron_variant SKCA-BR 2 42447376 42447382 deletion of <=200bp ATTTTTT - intron_variant SKCA-BR 2 42447448 42447448 single base substitution G A intron_variant SKCA-BR 2 42451683 42451683 single base substitution C A intron_variant SKCA-BR 2 42459499 42459499 single base substitution T A intron_variant SKCA-BR 2 42459807 42459807 single base substitution T G intron_variant SKCA-BR 2 42465767 42465768 deletion of <=200bp AT - intron_variant SKCA-BR 2 42465817 42465817 single base substitution G A intron_variant SKCA-BR 2 42466280 42466280 single base substitution C G intron_variant SKCA-BR 2 42471307 42471307 single base substitution C T intron_variant SKCA-BR 2 42473329 42473329 single base substitution C T downstream_gene_variant SKCA-BR 2 42473329 42473329 single base substitution C T intron_variant SKCA-BR 2 42473414 42473414 single base substitution C T downstream_gene_variant SKCA-BR 2 42473414 42473414 single base substitution C T intron_variant SKCA-BR 2 42482219 42482219 insertion of <=200bp - GT intron_variant SKCA-BR 2 42482324 42482324 single base substitution C T intron_variant SKCA-BR 2 42484818 42484818 single base substitution T A intron_variant SKCA-BR 2 42485764 42485764 single base substitution T C intron_variant SKCA-BR 2 42486865 42486865 insertion of <=200bp - TC intron_variant SKCA-BR 2 42488923 42488923 single base substitution C T downstream_gene_variant SKCA-BR 2 42488923 42488923 single base substitution C T intron_variant SKCA-BR 2 42491243 42491244 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 2 42491243 42491244 deletion of <=200bp GT - intron_variant SKCA-BR 2 42493535 42493535 single base substitution G A downstream_gene_variant SKCA-BR 2 42493535 42493535 single base substitution G A intron_variant SKCA-BR 2 42493790 42493791 deletion of <=200bp CT - intron_variant SKCA-BR 2 42494447 42494447 single base substitution G A intron_variant SKCA-BR 2 42500170 42500170 single base substitution G A intron_variant SKCA-BR 2 42500466 42500466 single base substitution C T intron_variant SKCA-BR 2 42504710 42504710 insertion of <=200bp - CT intron_variant SKCA-BR 2 42507475 42507475 single base substitution C T intron_variant SKCA-BR 2 42507475 42507475 single base substitution C T upstream_gene_variant SKCA-BR 2 42509534 42509534 single base substitution A G intron_variant SKCA-BR 2 42509534 42509534 single base substitution A G upstream_gene_variant SKCA-BR 2 42511909 42511909 single base substitution A T intron_variant SKCA-BR 2 42511909 42511909 single base substitution A T upstream_gene_variant SKCA-BR 2 42512726 42512726 insertion of <=200bp - CT intron_variant SKCA-BR 2 42512726 42512726 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 2 42512829 42512829 single base substitution C T intron_variant SKCA-BR 2 42512829 42512829 single base substitution C T upstream_gene_variant SKCA-BR 2 42514236 42514236 single base substitution C T intron_variant SKCA-BR 2 42515554 42515554 single base substitution C T exon_variant SKCA-BR 2 42515554 42515554 single base substitution C T intron_variant SKCA-BR 2 42516372 42516372 single base substitution G C exon_variant SKCA-BR 2 42516372 42516372 single base substitution G C intron_variant SKCA-BR 2 42517431 42517431 single base substitution C T downstream_gene_variant SKCA-BR 2 42517431 42517431 single base substitution C T intron_variant SKCA-BR 2 42517516 42517516 single base substitution C A downstream_gene_variant SKCA-BR 2 42517516 42517516 single base substitution C A intron_variant SKCA-BR 2 42518538 42518539 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 2 42518538 42518539 deletion of <=200bp CT - intron_variant SKCA-BR 2 42520992 42520992 single base substitution A C downstream_gene_variant SKCA-BR 2 42520992 42520992 single base substitution A C intron_variant SKCA-BR 2 42526898 42526898 single base substitution C T intron_variant SKCA-BR 2 42526898 42526898 single base substitution C T upstream_gene_variant SKCA-BR 2 42533800 42533801 deletion of <=200bp AT - intron_variant SKCA-BR 2 42533800 42533802 deletion of <=200bp ATT - intron_variant SKCA-BR 2 42536088 42536088 single base substitution G A intron_variant SKCA-BR 2 42543214 42543214 single base substitution C T intron_variant SKCA-BR 2 42543214 42543214 single base substitution C T upstream_gene_variant SKCA-BR 2 42548431 42548431 single base substitution G A downstream_gene_variant SKCA-BR 2 42548431 42548431 single base substitution G A intron_variant SKCM-US 2 42472774 42472774 single base substitution T C exon_variant SKCM-US 2 42472774 42472774 single base substitution T C missense_variant L52P 155T>C SKCM-US 2 42488319 42488319 single base substitution C T exon_variant SKCM-US 2 42488319 42488319 single base substitution C T intron_variant SKCM-US 2 42488319 42488319 single base substitution C T missense_variant H133Y 397C>T SKCM-US 2 42488356 42488356 single base substitution C T exon_variant SKCM-US 2 42488356 42488356 single base substitution C T intron_variant SKCM-US 2 42488356 42488356 single base substitution C T missense_variant P145L 434C>T SKCM-US 2 42508004 42508004 single base substitution A G missense_variant K170E 508A>G SKCM-US 2 42508004 42508004 single base substitution A G missense_variant K228E 682A>G SKCM-US 2 42508004 42508004 single base substitution A G missense_variant K239E 715A>G SKCM-US 2 42508004 42508004 single base substitution A G upstream_gene_variant SKCM-US 2 42531667 42531667 single base substitution T G 5_prime_UTR_variant SKCM-US 2 42531667 42531667 single base substitution T G exon_variant SKCM-US 2 42531667 42531667 single base substitution T G missense_variant V590G 1769T>G SKCM-US 2 42531667 42531667 single base substitution T G missense_variant V648G 1943T>G SKCM-US 2 42531667 42531667 single base substitution T G missense_variant V659G 1976T>G SKCM-US 2 42543128 42543128 single base substitution G A exon_variant SKCM-US 2 42543128 42543128 single base substitution G A intron_variant SKCM-US 2 42543128 42543128 single base substitution G A missense_variant R607K 1820G>A SKCM-US 2 42543128 42543128 single base substitution G A missense_variant R665K 1994G>A SKCM-US 2 42543128 42543128 single base substitution G A missense_variant R676K 2027G>A SKCM-US 2 42543128 42543128 single base substitution G A upstream_gene_variant SKCM-US 2 42544633 42544633 single base substitution G A exon_variant SKCM-US 2 42544633 42544633 single base substitution G A intron_variant SKCM-US 2 42544633 42544633 single base substitution G A missense_variant G650E 1949G>A SKCM-US 2 42544633 42544633 single base substitution G A missense_variant G708E 2123G>A SKCM-US 2 42544633 42544633 single base substitution G A missense_variant G719E 2156G>A SKCM-US 2 42557083 42557083 single base substitution A G exon_variant SKCM-US 2 42557083 42557083 single base substitution A G synonymous_variant Q158Q 474A>G SKCM-US 2 42557083 42557083 single base substitution A G synonymous_variant Q836Q 2508A>G SKCM-US 2 42557083 42557083 single base substitution A G synonymous_variant Q894Q 2682A>G SKCM-US 2 42557083 42557083 single base substitution A G synonymous_variant Q905Q 2715A>G STAD-US 2 42490379 42490379 single base substitution C T downstream_gene_variant STAD-US 2 42490379 42490379 single base substitution C T missense_variant R134C 400C>T STAD-US 2 42490379 42490379 single base substitution C T missense_variant R192C 574C>T STAD-US 2 42508059 42508059 single base substitution A G missense_variant N188S 563A>G STAD-US 2 42508059 42508059 single base substitution A G missense_variant N246S 737A>G STAD-US 2 42508059 42508059 single base substitution A G missense_variant N257S 770A>G STAD-US 2 42508059 42508059 single base substitution A G upstream_gene_variant STAD-US 2 42513521 42513521 single base substitution T C splice_donor_variant STAD-US 2 42522632 42522632 single base substitution C T exon_variant STAD-US 2 42522632 42522632 single base substitution C T missense_variant P431S 1291C>T STAD-US 2 42522632 42522632 single base substitution C T missense_variant P489S 1465C>T STAD-US 2 42522632 42522632 single base substitution C T missense_variant P500S 1498C>T STAD-US 2 42528406 42528406 single base substitution C T 5_prime_UTR_variant STAD-US 2 42528406 42528406 single base substitution C T exon_variant STAD-US 2 42528406 42528406 single base substitution C T synonymous_variant I447I 1341C>T STAD-US 2 42528406 42528406 single base substitution C T synonymous_variant I505I 1515C>T STAD-US 2 42528406 42528406 single base substitution C T synonymous_variant I516I 1548C>T STAD-US 2 42543190 42543190 single base substitution G T intron_variant STAD-US 2 42543190 42543190 single base substitution G T missense_variant D628Y 1882G>T STAD-US 2 42543190 42543190 single base substitution G T missense_variant D686Y 2056G>T STAD-US 2 42543190 42543190 single base substitution G T missense_variant D697Y 2089G>T STAD-US 2 42543190 42543190 single base substitution G T splice_region_variant STAD-US 2 42543190 42543190 single base substitution G T upstream_gene_variant UCEC-US 2 42472771 42472771 single base substitution G A exon_variant UCEC-US 2 42472771 42472771 single base substitution G A missense_variant R51H 152G>A UCEC-US 2 42488317 42488317 single base substitution C A exon_variant UCEC-US 2 42488317 42488317 single base substitution C A intron_variant UCEC-US 2 42488317 42488317 single base substitution C A missense_variant S132Y 395C>A UCEC-US 2 42488344 42488344 single base substitution T C exon_variant UCEC-US 2 42488344 42488344 single base substitution T C intron_variant UCEC-US 2 42488344 42488344 single base substitution T C missense_variant I141T 422T>C UCEC-US 2 42490393 42490393 single base substitution G A downstream_gene_variant UCEC-US 2 42490393 42490393 single base substitution G A synonymous_variant S138S 414G>A UCEC-US 2 42490393 42490393 single base substitution G A synonymous_variant S196S 588G>A UCEC-US 2 42490424 42490424 single base substitution A C downstream_gene_variant UCEC-US 2 42490424 42490424 single base substitution A C missense_variant K149Q 445A>C UCEC-US 2 42490424 42490424 single base substitution A C missense_variant K207Q 619A>C UCEC-US 2 42511826 42511826 single base substitution G A exon_variant UCEC-US 2 42511826 42511826 single base substitution G A missense_variant V274M 820G>A UCEC-US 2 42511826 42511826 single base substitution G A missense_variant V332M 994G>A UCEC-US 2 42511826 42511826 single base substitution G A missense_variant V343M 1027G>A UCEC-US 2 42511826 42511826 single base substitution G A upstream_gene_variant UCEC-US 2 42515438 42515438 single base substitution G A exon_variant UCEC-US 2 42515438 42515438 single base substitution G A synonymous_variant K340K 1020G>A UCEC-US 2 42515438 42515438 single base substitution G A synonymous_variant K398K 1194G>A UCEC-US 2 42515438 42515438 single base substitution G A synonymous_variant K409K 1227G>A UCEC-US 2 42515438 42515438 single base substitution G T exon_variant UCEC-US 2 42515438 42515438 single base substitution G T missense_variant K340N 1020G>T UCEC-US 2 42515438 42515438 single base substitution G T missense_variant K398N 1194G>T UCEC-US 2 42515438 42515438 single base substitution G T missense_variant K409N 1227G>T UCEC-US 2 42522274 42522274 single base substitution G A exon_variant UCEC-US 2 42522274 42522274 single base substitution G A missense_variant E352K 1054G>A UCEC-US 2 42522274 42522274 single base substitution G A missense_variant E410K 1228G>A UCEC-US 2 42522274 42522274 single base substitution G A missense_variant E421K 1261G>A UCEC-US 2 42528494 42528494 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 2 42528494 42528494 single base substitution C A exon_variant UCEC-US 2 42528494 42528494 single base substitution C A missense_variant L477M 1429C>A UCEC-US 2 42528494 42528494 single base substitution C A missense_variant L535M 1603C>A UCEC-US 2 42528494 42528494 single base substitution C A missense_variant L546M 1636C>A UCEC-US 2 42531666 42531666 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 2 42531666 42531666 single base substitution G A exon_variant UCEC-US 2 42531666 42531666 single base substitution G A missense_variant V590M 1768G>A UCEC-US 2 42531666 42531666 single base substitution G A missense_variant V648M 1942G>A UCEC-US 2 42531666 42531666 single base substitution G A missense_variant V659M 1975G>A UCEC-US 2 42543130 42543130 single base substitution G T exon_variant UCEC-US 2 42543130 42543130 single base substitution G T intron_variant UCEC-US 2 42543130 42543130 single base substitution G T missense_variant D608Y 1822G>T UCEC-US 2 42543130 42543130 single base substitution G T missense_variant D666Y 1996G>T UCEC-US 2 42543130 42543130 single base substitution G T missense_variant D677Y 2029G>T UCEC-US 2 42543130 42543130 single base substitution G T upstream_gene_variant UCEC-US 2 42543154 42543154 single base substitution G A exon_variant UCEC-US 2 42543154 42543154 single base substitution G A intron_variant UCEC-US 2 42543154 42543154 single base substitution G A missense_variant G616R 1846G>A UCEC-US 2 42543154 42543154 single base substitution G A missense_variant G674R 2020G>A UCEC-US 2 42543154 42543154 single base substitution G A missense_variant G685R 2053G>A UCEC-US 2 42543154 42543154 single base substitution G A upstream_gene_variant UCEC-US 2 42556101 42556101 single base substitution T C exon_variant UCEC-US 2 42556101 42556101 single base substitution T C missense_variant V70A 209T>C UCEC-US 2 42556101 42556101 single base substitution T C missense_variant V748A 2243T>C UCEC-US 2 42556101 42556101 single base substitution T C missense_variant V806A 2417T>C UCEC-US 2 42556101 42556101 single base substitution T C missense_variant V817A 2450T>C UCEC-US 2 42556902 42556902 single base substitution G A exon_variant UCEC-US 2 42556902 42556902 single base substitution G A missense_variant S776N 2327G>A UCEC-US 2 42556902 42556902 single base substitution G A missense_variant S834N 2501G>A UCEC-US 2 42556902 42556902 single base substitution G A missense_variant S845N 2534G>A UCEC-US 2 42556902 42556902 single base substitution G A missense_variant S98N 293G>A UCEC-US 2 42557090 42557090 single base substitution A G exon_variant UCEC-US 2 42557090 42557090 single base substitution A G missense_variant T161A 481A>G UCEC-US 2 42557090 42557090 single base substitution A G missense_variant T839A 2515A>G UCEC-US 2 42557090 42557090 single base substitution A G missense_variant T897A 2689A>G UCEC-US 2 42557090 42557090 single base substitution A G missense_variant T908A 2722A>G UCEC-US 2 42557101 42557101 single base substitution G A exon_variant UCEC-US 2 42557101 42557101 single base substitution G A synonymous_variant P164P 492G>A UCEC-US 2 42557101 42557101 single base substitution G A synonymous_variant P842P 2526G>A UCEC-US 2 42557101 42557101 single base substitution G A synonymous_variant P900P 2700G>A UCEC-US 2 42557101 42557101 single base substitution G A synonymous_variant P911P 2733G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PD3987a COSM160695 c.425G>A p.R142Q Substitution - Missense 2:42261207-42261207 + 51T COSM108115 c.1903C>T p.P635S Substitution - Missense 2:42304487-42304487 + tAML-01 COSM210965 c.1066A>G p.I356V Substitution - Missense 2:42286323-42286323 + 1604875 COSM140987 c.1699T>G p.L567V Substitution - Missense 2:42303161-42303161 + TCGA-23-1117-01 COSM81126 c.1236T>A p.V412V Substitution - coding silent 2:42295142-42295142 + Br15X COSM39716 c.2057-4C>A p.? Unknown 2:42317423-42317423 + TCGA-13-0920-01 COSM74505 c.2344G>C p.V782L Substitution - Missense 2:42328888-42328888 + PD4203a COSM160696 c.839C>A p.P280Q Substitution - Missense 2:42282870-42282870 + PD4596a COSM160697 c.1015C>G p.L339V Substitution - Missense 2:42286272-42286272 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.713173 2p21 607442

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.1968-3089A>C 2 42540013 CLL - A Frameshift p.A43Gfs*5 c.125dupA 2 42472742 BRCA A - Frameshift p.E130Rfs*43 c.387delA 2 42488302 STAD A G IntronicSNV . c.1490-1787A>G 2 42526594 CLL A G IntronicSNV . c.25+28059A>G 2 42424835 CLL A G Missense p.D10G c.29A>G 2 42472648 LUAD A G Missense p.D10G c.29A>G 2 42472648 LUSC A G Missense p.K228E c.682A>G 2 42508004 CM A G Missense p.N246S c.737A>G 2 42508059 STAD A G Synonymous p.K313K c.939A>G 2 42510110 RCCC A G Synonymous p.Q894Q c.2682A>G 2 42557083 CM A G Synonymous p.R572R c.1716A>G 2 42530318 LUAD A G Synonymous p.S29S c.87A>G 2 42472706 HNSC A - IntronicDeletion . c.338+26delA 2 42483792 STAD A T Missense p.E956V c.2867A>T 2 42557268 BRCA A T Nonsense p.K69* c.205A>T 2 42472824 BRCA C A IntronicSNV . c.2057-4C>A 2 42544563 GBM C A Missense p.L970I c.2908C>A 2 42557309 BRCA C A Missense p.P280Q c.839C>A 2 42510010 BRCA C A Missense p.P979T c.2935C>A 2 42557336 CLL C A Missense p.S386Y c.1157C>A 2 42515401 MM C A Nonsense p.S29* c.86C>A 2 42472705 RCCC C G Missense p.H133D c.397C>G 2 42488319 LUAD C G Missense p.L339V c.1015C>G 2 42513412 BRCA C G Missense p.L391V c.1171C>G 2 42515415 LUAD C G Missense p.P900R c.2699C>G 2 42557100 HNSC C T Missense p.H133Y c.397C>T 2 42488319 CM C T Missense p.P145L c.434C>T 2 42488356 CM C T Missense p.P161S c.481C>T 2 42488403 BRCA C T Missense p.P338S c.1012C>T 2 42513409 PRAD C T Nonsense p.R75* c.223C>T 2 42483655 LUSC C T Synonymous p.C820C c.2460C>T 2 42556144 STAD C T Synonymous p.G331G c.993C>T 2 42511825 LUSC G A Missense p.G708E c.2123G>A 2 42544633 CM G A Missense p.R142Q c.425G>A 2 42488347 BRCA G A Missense p.R665K c.1994G>A 2 42543128 CM G A Synonymous p.S978S c.2934G>A 2 42557335 HNSC G C IntronicSNV . c.1012-299G>C 2 42513110 HC G C Missense p.D335H c.1003G>C 2 42511835 LUAD G C Missense p.D728H c.2182G>C 2 42552634 BLCA G C Missense p.G327A c.980G>C 2 42511812 LUSC G C Missense p.V782L c.2344G>C 2 42556028 OV G T Missense p.D856Y c.2566G>T 2 42556967 BRCA T A Synonymous p.V412V c.1236T>A 2 42522282 OV T C Missense p.V332A c.995T>C 2 42511827 MB T C SpliceDonorSNV . c.1122+2T>C 2 42513521 STAD T C Synonymous p.H720H c.2160T>C 2 42552612 LUAD TG - Frameshift p.A639Rfs*37 c.1914_1915delTG 2 42531636 ESCA T G Missense p.V648G c.1943T>G 2 42531667 CM