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 4 129764159 129764159 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr4:129764159C>G c.104C>G c.(103-105)tCc>tGc p.S35C BLCA 4 129778584 129778584 + Missense_Mutation SNP A A G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr4:129778584A>G c.956A>G c.(955-957)aAt>aGt p.N319S BLCA 4 129778586 129778586 + Nonsense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr4:129778586G>T c.958G>T c.(958-960)Gag>Tag p.E320* BLCA 4 129782878 129782878 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:129782878G>A c.1001G>A c.(1000-1002)cGc>cAc p.R334H BLCA 4 129792519 129792519 + Missense_Mutation SNP C C G TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr4:129792519C>G c.1631C>G c.(1630-1632)tCt>tGt p.S544C BRCA 4 129764141 129764141 + Missense_Mutation SNP C C G TCGA-AR-A2LE-01A-11D-A17W-09 TCGA-AR-A2LE-10A-01D-A17W-09 g.chr4:129764141C>G c.86C>G c.(85-87)tCc>tGc p.S29C BRCA 4 129764183 129764183 + Missense_Mutation SNP A A C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr4:129764183A>C c.128A>C c.(127-129)aAg>aCg p.K43T BRCA 4 129770145 129770145 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 g.chr4:129770145G>A c.307G>A c.(307-309)Gaa>Aaa p.E103K BRCA 4 129776883 129776883 + Silent SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr4:129776883T>G c.795T>G c.(793-795)ggT>ggG p.G265G BRCA 4 129783115 129783115 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr4:129783115T>G c.1238T>G c.(1237-1239)gTg>gGg p.V413G BRCA 4 129792615 129792615 + Missense_Mutation SNP C C G TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 g.chr4:129792615C>G c.1727C>G c.(1726-1728)tCt>tGt p.S576C CESC 4 129773220 129773220 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr4:129773220G>A c.493G>A c.(493-495)Gaa>Aaa p.E165K CESC 4 129776799 129776799 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr4:129776799C>T c.711C>T c.(709-711)atC>atT p.I237I CESC 4 129782960 129782960 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 g.chr4:129782960C>T c.1083C>T c.(1081-1083)ttC>ttT p.F361F CESC 4 129793030 129793030 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 g.chr4:129793030G>T c.2142G>T c.(2140-2142)agG>agT p.R714S COAD 4 129764115 129764115 + Silent SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:129764115A>G c.60A>G c.(58-60)tcA>tcG p.S20S COAD 4 129764179 129764179 + Nonsense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:129764179C>T c.124C>T c.(124-126)Cga>Tga p.R42* COAD 4 129770218 129770219 + Frame_Shift_Del DEL GC GC - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:129770218_129770219delGC c.380_381delGC c.(379-381)ggcfs p.G127fs COAD 4 129770249 129770249 + Missense_Mutation SNP C C A TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr4:129770249C>A c.411C>A c.(409-411)agC>agA p.S137R COAD 4 129770255 129770255 + Silent SNP T T C TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr4:129770255T>C c.417T>C c.(415-417)tgT>tgC p.C139C COAD 4 129773353 129773353 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr4:129773353G>A c.626G>A c.(625-627)tGc>tAc p.C209Y COAD 4 129776873 129776873 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr4:129776873C>T c.785C>T c.(784-786)cCg>cTg p.P262L COAD 4 129776881 129776881 + Missense_Mutation SNP G G T TCGA-AA-3520-01A-01W-0831-10 TCGA-AA-3520-10A-01W-0831-10 g.chr4:129776881G>T c.793G>T c.(793-795)Ggt>Tgt p.G265C COAD 4 129778564 129778564 + Silent SNP G G A TCGA-AA-3982-01A-02W-0995-10 TCGA-AA-3982-10A-01W-0999-10 g.chr4:129778564G>A c.936G>A c.(934-936)gcG>gcA p.A312A COAD 4 129782983 129782983 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:129782983G>A c.1106G>A c.(1105-1107)aGc>aAc p.S369N COAD 4 129783051 129783052 + Frame_Shift_Ins INS - - C TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr4:129783051_129783052insC c.1174_1175insC c.(1174-1176)tccfs p.S392fs COAD 4 129783052 129783052 + Frame_Shift_Del DEL C C - TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr4:129783052delC c.1175delC c.(1174-1176)tccfs p.S392fs COAD 4 129783197 129783197 + Silent SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr4:129783197G>A c.1320G>A c.(1318-1320)ctG>ctA p.L440L COAD 4 129783315 129783315 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr4:129783315C>T c.1438C>T c.(1438-1440)Cgg>Tgg p.R480W COAD 4 129789067 129789067 + Missense_Mutation SNP C C G TCGA-AA-3667-01A-01W-0900-09 TCGA-AA-3667-10A-01W-0900-09 g.chr4:129789067C>G c.1560C>G c.(1558-1560)tgC>tgG p.C520W COAD 4 129793164 129793164 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr4:129793164G>A c.2276G>A c.(2275-2277)cGg>cAg p.R759Q COAD 4 129793187 129793187 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:129793187G>A c.2299G>A c.(2299-2301)Gat>Aat p.D767N COAD 4 129793345 129793345 + Missense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:129793345G>T c.2457G>T c.(2455-2457)aaG>aaT p.K819N COADREAD 4 129764115 129764115 + Silent SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:129764115A>G c.60A>G c.(58-60)tcA>tcG p.S20S COADREAD 4 129764138 129764138 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:129764138G>A c.83G>A c.(82-84)cGa>cAa p.R28Q COADREAD 4 129764179 129764179 + Nonsense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:129764179C>T c.124C>T c.(124-126)Cga>Tga p.R42* COADREAD 4 129770218 129770219 + Frame_Shift_Del DEL GC GC - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:129770218_129770219delGC c.380_381delGC c.(379-381)ggcfs p.G127fs COADREAD 4 129770249 129770249 + Missense_Mutation SNP C C A TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr4:129770249C>A c.411C>A c.(409-411)agC>agA p.S137R COADREAD 4 129770255 129770255 + Silent SNP T T C TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr4:129770255T>C c.417T>C c.(415-417)tgT>tgC p.C139C COADREAD 4 129773353 129773353 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr4:129773353G>A c.626G>A c.(625-627)tGc>tAc p.C209Y COADREAD 4 129776873 129776873 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr4:129776873C>T c.785C>T c.(784-786)cCg>cTg p.P262L COADREAD 4 129776881 129776881 + Missense_Mutation SNP G G T TCGA-AA-3520-01A-01W-0831-10 TCGA-AA-3520-10A-01W-0831-10 g.chr4:129776881G>T c.793G>T c.(793-795)Ggt>Tgt p.G265C COADREAD 4 129778564 129778564 + Silent SNP G G A TCGA-AA-3982-01A-02W-0995-10 TCGA-AA-3982-10A-01W-0999-10 g.chr4:129778564G>A c.936G>A c.(934-936)gcG>gcA p.A312A COADREAD 4 129782983 129782983 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:129782983G>A c.1106G>A c.(1105-1107)aGc>aAc p.S369N COADREAD 4 129783051 129783052 + Frame_Shift_Ins INS - - C TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr4:129783051_129783052insC c.1174_1175insC c.(1174-1176)tccfs p.S392fs COADREAD 4 129783052 129783052 + Frame_Shift_Del DEL C C - TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr4:129783052delC c.1175delC c.(1174-1176)tccfs p.S392fs COADREAD 4 129783197 129783197 + Silent SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr4:129783197G>A c.1320G>A c.(1318-1320)ctG>ctA p.L440L COADREAD 4 129783315 129783315 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr4:129783315C>T c.1438C>T c.(1438-1440)Cgg>Tgg p.R480W COADREAD 4 129789067 129789067 + Missense_Mutation SNP C C G TCGA-AA-3667-01A-01W-0900-09 TCGA-AA-3667-10A-01W-0900-09 g.chr4:129789067C>G c.1560C>G c.(1558-1560)tgC>tgG p.C520W COADREAD 4 129792844 129792844 + Silent SNP G G A TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr4:129792844G>A c.1956G>A c.(1954-1956)gtG>gtA p.V652V COADREAD 4 129793164 129793164 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr4:129793164G>A c.2276G>A c.(2275-2277)cGg>cAg p.R759Q COADREAD 4 129793187 129793187 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:129793187G>A c.2299G>A c.(2299-2301)Gat>Aat p.D767N COADREAD 4 129793345 129793345 + Missense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:129793345G>T c.2457G>T c.(2455-2457)aaG>aaT p.K819N DLBC 4 129792787 129792787 + Silent SNP A A G TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr4:129792787A>G c.1899A>G c.(1897-1899)ttA>ttG p.L633L DLBC 4 129792873 129792873 + Missense_Mutation SNP A A G TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr4:129792873A>G c.1985A>G c.(1984-1986)aAt>aGt p.N662S ESCA 4 129752963 129752963 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr4:129752963G>A c.50G>A c.(49-51)gGc>gAc p.G17D ESCA 4 129767562 129767562 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr4:129767562G>T c.171G>T c.(169-171)aaG>aaT p.K57N ESCA 4 129783293 129783293 + Missense_Mutation SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr4:129783293T>G c.1416T>G c.(1414-1416)gaT>gaG p.D472E ESCA 4 129783389 129783389 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr4:129783389T>C c.1512T>C c.(1510-1512)atT>atC p.I504I ESCA 4 129792508 129792508 + Splice_Site SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 g.chr4:129792508A>G c.e11-1 GBM 4 129770219 129770219 + Silent SNP C C G TCGA-06-0184-01A-01D-1491-08 TCGA-06-0184-10B-01D-1491-08 g.chr4:129770219C>G c.381C>G c.(379-381)ggC>ggG p.G127G GBM 4 129770286 129770286 + Missense_Mutation SNP T T A TCGA-06-0185-01A-01W-0254-08 TCGA-06-0185-10B-01W-0254-08 g.chr4:129770286T>A c.448T>A c.(448-450)Tgg>Agg p.W150R GBMLGG 4 129770219 129770219 + Silent SNP C C G TCGA-06-0184-01A-01D-1491-08 TCGA-06-0184-10B-01D-1491-08 g.chr4:129770219C>G c.381C>G c.(379-381)ggC>ggG p.G127G GBMLGG 4 129770286 129770286 + Missense_Mutation SNP T T A TCGA-06-0185-01A-01W-0254-08 TCGA-06-0185-10B-01W-0254-08 g.chr4:129770286T>A c.448T>A c.(448-450)Tgg>Agg p.W150R GBMLGG 4 129782915 129782915 + Silent SNP C C T TCGA-DU-A5TU-01A-11D-A289-08 TCGA-DU-A5TU-10A-01D-A289-08 g.chr4:129782915C>T c.1038C>T c.(1036-1038)ggC>ggT p.G346G GBMLGG 4 129792755 129792755 + Missense_Mutation SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 g.chr4:129792755G>A c.1867G>A c.(1867-1869)Ggg>Agg p.G623R HNSC 4 129770159 129770159 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 g.chr4:129770159C>T c.321C>T c.(319-321)ctC>ctT p.L107L HNSC 4 129770191 129770191 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 g.chr4:129770191C>T c.353C>T c.(352-354)tCa>tTa p.S118L HNSC 4 129773388 129773388 + Missense_Mutation SNP G G A TCGA-CN-A641-01A-11D-A30E-08 TCGA-CN-A641-10A-01D-A30H-08 g.chr4:129773388G>A c.661G>A c.(661-663)Gtg>Atg p.V221M HNSC 4 129776938 129776938 + Silent SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 g.chr4:129776938C>T c.850C>T c.(850-852)Ctg>Ttg p.L284L HNSC 4 129778492 129778492 + Splice_Site SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr4:129778492G>A c.e8-1 HNSC 4 129792809 129792809 + Missense_Mutation SNP C C T TCGA-CR-5243-01A-01D-1512-08 TCGA-CR-5243-10A-01D-1512-08 g.chr4:129792809C>T c.1921C>T c.(1921-1923)Cgt>Tgt p.R641C KIPAN 4 129782923 129782923 + Missense_Mutation SNP T T G TCGA-AK-3455-01A-01D-0966-08 TCGA-AK-3455-10A-01D-0966-08 g.chr4:129782923T>G c.1046T>G c.(1045-1047)aTg>aGg p.M349R KIPAN 4 129789065 129789065 + Missense_Mutation SNP T T A TCGA-CJ-4916-01A-01D-1429-08 TCGA-CJ-4916-11A-01D-1429-08 g.chr4:129789065T>A c.1558T>A c.(1558-1560)Tgc>Agc p.C520S KIPAN 4 129793111 129793111 + Silent SNP T T A TCGA-MH-A856-01A-11D-A34Z-10 TCGA-MH-A856-10A-01D-A34Z-10 g.chr4:129793111T>A c.2223T>A c.(2221-2223)ccT>ccA p.P741P KIRC 4 129782923 129782923 + Missense_Mutation SNP T T G TCGA-AK-3455-01A-01D-0966-08 TCGA-AK-3455-10A-01D-0966-08 g.chr4:129782923T>G c.1046T>G c.(1045-1047)aTg>aGg p.M349R KIRC 4 129789065 129789065 + Missense_Mutation SNP T T A TCGA-CJ-4916-01A-01D-1429-08 TCGA-CJ-4916-11A-01D-1429-08 g.chr4:129789065T>A c.1558T>A c.(1558-1560)Tgc>Agc p.C520S KIRP 4 129793111 129793111 + Silent SNP T T A TCGA-MH-A856-01A-11D-A34Z-10 TCGA-MH-A856-10A-01D-A34Z-10 g.chr4:129793111T>A c.2223T>A c.(2221-2223)ccT>ccA p.P741P LGG 4 129782915 129782915 + Silent SNP C C T TCGA-DU-A5TU-01A-11D-A289-08 TCGA-DU-A5TU-10A-01D-A289-08 g.chr4:129782915C>T c.1038C>T c.(1036-1038)ggC>ggT p.G346G LGG 4 129792755 129792755 + Missense_Mutation SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 g.chr4:129792755G>A c.1867G>A c.(1867-1869)Ggg>Agg p.G623R LIHC 4 129778563 129778563 + Missense_Mutation SNP C C A TCGA-DD-AADR-01A-11D-A40R-10 TCGA-DD-AADR-10A-01D-A40U-10 g.chr4:129778563C>A c.935C>A c.(934-936)gCg>gAg p.A312E LIHC 4 129782877 129782877 + Missense_Mutation SNP C C T TCGA-G3-AAV0-01A-11D-A36X-10 TCGA-G3-AAV0-10A-01D-A370-10 g.chr4:129782877C>T c.1000C>T c.(1000-1002)Cgc>Tgc p.R334C LIHC 4 129782996 129782996 + Silent SNP A A G TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr4:129782996A>G c.1119A>G c.(1117-1119)aaA>aaG p.K373K LIHC 4 129792723 129792723 + Missense_Mutation SNP T T C TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr4:129792723T>C c.1835T>C c.(1834-1836)cTg>cCg p.L612P LIHC 4 129792936 129792936 + Missense_Mutation SNP A A G TCGA-DD-AADA-01A-11D-A40R-10 TCGA-DD-AADA-10A-01D-A40U-10 g.chr4:129792936A>G c.2048A>G c.(2047-2049)aAg>aGg p.K683R LUAD 4 129767550 129767550 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr4:129767550C>T c.159C>T c.(157-159)atC>atT p.I53I LUAD 4 129767604 129767605 + Frame_Shift_Ins INS - - T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr4:129767604_129767605insT c.213_214insT c.(214-216)ttgfs p.L72fs LUAD 4 129770171 129770171 + Splice_Site SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr4:129770171G>A c.297G>A c.(295-297)agG>agA p.R99R LUAD 4 129776952 129776952 + Splice_Site SNP G G A TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 g.chr4:129776952G>A c.864G>A c.(862-864)gaG>gaA p.E288E LUAD 4 129783000 129783000 + Missense_Mutation SNP G G A TCGA-17-Z016-01A-01W-0746-08 TCGA-17-Z016-11A-01W-0746-08 g.chr4:129783000G>A c.1123G>A c.(1123-1125)Gag>Aag p.E375K LUAD 4 129783281 129783281 + Silent SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 g.chr4:129783281C>T c.1404C>T c.(1402-1404)acC>acT p.T468T LUAD 4 129789081 129789081 + Missense_Mutation SNP A A G TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr4:129789081A>G c.1574A>G c.(1573-1575)cAg>cGg p.Q525R LUAD 4 129792527 129792527 + Missense_Mutation SNP T T C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 g.chr4:129792527T>C c.1639T>C c.(1639-1641)Tcc>Ccc p.S547P LUAD 4 129792666 129792666 + Missense_Mutation SNP A A G TCGA-38-4630-01A-01D-1265-08 TCGA-38-4630-11A-01D-1265-08 g.chr4:129792666A>G c.1778A>G c.(1777-1779)aAg>aGg p.K593R LUAD 4 129793096 129793096 + Missense_Mutation SNP A A C TCGA-73-4677-01A-01D-1265-08 TCGA-73-4677-11A-01D-1265-08 g.chr4:129793096A>C c.2208A>C c.(2206-2208)aaA>aaC p.K736N LUAD 4 129793167 129793167 + Missense_Mutation SNP A A T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 g.chr4:129793167A>T c.2279A>T c.(2278-2280)cAg>cTg p.Q760L LUSC 4 129767537 129767537 + Missense_Mutation SNP G G T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 g.chr4:129767537G>T c.146G>T c.(145-147)aGg>aTg p.R49M LUSC 4 129776951 129776951 + Splice_Site SNP A A C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr4:129776951A>C c.863A>C c.(862-864)gAg>gCg p.E288A PAAD 4 129783052 129783052 + Frame_Shift_Del DEL C C - TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 g.chr4:129783052delC c.1175delC c.(1174-1176)tccfs p.S392fs PAAD 4 129783124 129783124 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 g.chr4:129783124G>A c.1247G>A c.(1246-1248)cGt>cAt p.R416H PAAD 4 129783239 129783239 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:129783239G>A c.1362G>A c.(1360-1362)tgG>tgA p.W454* PCPG 4 129778604 129778604 + Missense_Mutation SNP A A G TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 g.chr4:129778604A>G c.976A>G c.(976-978)Ata>Gta p.I326V PRAD 4 129782991 129782991 + Missense_Mutation SNP A A T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 g.chr4:129782991A>T c.1114A>T c.(1114-1116)Agg>Tgg p.R372W PRAD 4 129783027 129783027 + Missense_Mutation SNP C C G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:129783027C>G c.1150C>G c.(1150-1152)Cag>Gag p.Q384E READ 4 129764138 129764138 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:129764138G>A c.83G>A c.(82-84)cGa>cAa p.R28Q READ 4 129792844 129792844 + Silent SNP G G A TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr4:129792844G>A c.1956G>A c.(1954-1956)gtG>gtA p.V652V SARC 4 129792902 129792902 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 g.chr4:129792902G>A c.2014G>A c.(2014-2016)Gac>Aac p.D672N SKCM 4 129752966 129752966 + Splice_Site SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 g.chr4:129752966G>A c.e2+1 SKCM 4 129764135 129764135 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr4:129764135C>T c.80C>T c.(79-81)tCc>tTc p.S27F SKCM 4 129764135 129764135 + Missense_Mutation SNP C C T TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr4:129764135C>T c.80C>T c.(79-81)tCc>tTc p.S27F SKCM 4 129764136 129764136 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr4:129764136C>T c.81C>T c.(79-81)tcC>tcT p.S27S SKCM 4 129764143 129764143 + Nonsense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr4:129764143C>T c.88C>T c.(88-90)Cag>Tag p.Q30* SKCM 4 129778548 129778548 + Missense_Mutation SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr4:129778548C>T c.920C>T c.(919-921)cCc>cTc p.P307L SKCM 4 129782889 129782889 + Missense_Mutation SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr4:129782889C>T c.1012C>T c.(1012-1014)Cat>Tat p.H338Y SKCM 4 129782942 129782942 + Silent SNP G G A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr4:129782942G>A c.1065G>A c.(1063-1065)gaG>gaA p.E355E SKCM 4 129783053 129783053 + Silent SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr4:129783053C>T c.1176C>T c.(1174-1176)tcC>tcT p.S392S SKCM 4 129783124 129783124 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr4:129783124G>A c.1247G>A c.(1246-1248)cGt>cAt p.R416H SKCM 4 129783278 129783278 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr4:129783278C>T c.1401C>T c.(1399-1401)atC>atT p.I467I SKCM 4 129792669 129792669 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr4:129792669C>T c.1781C>T c.(1780-1782)cCc>cTc p.P594L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 4 129773323 129773323 single base substitution A C downstream_gene_variant BLCA-CN 4 129773323 129773323 single base substitution A C missense_variant E187A 560A>C BLCA-CN 4 129773323 129773323 single base substitution A C missense_variant E199A 596A>C BLCA-CN 4 129792752 129792752 single base substitution G A missense_variant E610K 1828G>A BLCA-CN 4 129792752 129792752 single base substitution G A missense_variant E622K 1864G>A BLCA-US 4 129778586 129778586 single base substitution G T stop_gained E308* 922G>T BLCA-US 4 129778586 129778586 single base substitution G T stop_gained E320* 958G>T BOCA-FR 4 129740841 129740841 single base substitution G T intron_variant BRCA-EU 4 129725852 129725852 single base substitution C A upstream_gene_variant BRCA-EU 4 129726185 129726185 single base substitution C G upstream_gene_variant BRCA-EU 4 129728290 129728290 single base substitution C A upstream_gene_variant BRCA-EU 4 129728594 129728594 single base substitution A T upstream_gene_variant BRCA-EU 4 129733321 129733321 single base substitution G A intron_variant BRCA-EU 4 129734450 129734450 insertion of <=200bp - G intron_variant BRCA-EU 4 129741672 129741672 single base substitution C G intron_variant BRCA-EU 4 129744392 129744392 single base substitution A G intron_variant BRCA-EU 4 129746604 129746604 single base substitution C G intron_variant BRCA-EU 4 129747522 129747522 deletion of <=200bp T - intron_variant BRCA-EU 4 129748280 129748280 single base substitution C A intron_variant BRCA-EU 4 129748280 129748280 single base substitution C A upstream_gene_variant BRCA-EU 4 129750935 129750935 single base substitution G T intron_variant BRCA-EU 4 129750935 129750935 single base substitution G T upstream_gene_variant BRCA-EU 4 129754884 129754884 single base substitution C T downstream_gene_variant BRCA-EU 4 129754884 129754884 single base substitution C T intron_variant BRCA-EU 4 129755004 129755004 single base substitution C G downstream_gene_variant BRCA-EU 4 129755004 129755004 single base substitution C G intron_variant BRCA-EU 4 129756141 129756141 single base substitution A T downstream_gene_variant BRCA-EU 4 129756141 129756141 single base substitution A T intron_variant BRCA-EU 4 129758590 129758590 single base substitution G A intron_variant BRCA-EU 4 129758913 129758913 single base substitution T G intron_variant BRCA-EU 4 129759818 129759818 single base substitution A C intron_variant BRCA-EU 4 129759827 129759827 single base substitution T G intron_variant BRCA-EU 4 129760243 129760243 insertion of <=200bp - A intron_variant BRCA-EU 4 129760723 129760723 single base substitution C T intron_variant BRCA-EU 4 129760892 129760892 single base substitution T A intron_variant BRCA-EU 4 129762472 129762472 single base substitution T C intron_variant BRCA-EU 4 129763803 129763803 single base substitution C T intron_variant BRCA-EU 4 129766033 129766033 single base substitution G C intron_variant BRCA-EU 4 129768391 129768391 single base substitution C A intron_variant BRCA-EU 4 129768608 129768608 single base substitution C G intron_variant BRCA-EU 4 129771168 129771168 single base substitution G A downstream_gene_variant BRCA-EU 4 129771168 129771168 single base substitution G A intron_variant BRCA-EU 4 129771907 129771907 single base substitution G T downstream_gene_variant BRCA-EU 4 129771907 129771907 single base substitution G T intron_variant BRCA-EU 4 129773052 129773052 single base substitution C A downstream_gene_variant BRCA-EU 4 129773052 129773052 single base substitution C A intron_variant BRCA-EU 4 129775242 129775242 single base substitution T C downstream_gene_variant BRCA-EU 4 129775242 129775242 single base substitution T C intron_variant BRCA-EU 4 129775624 129775624 single base substitution A C downstream_gene_variant BRCA-EU 4 129775624 129775624 single base substitution A C intron_variant BRCA-EU 4 129777037 129777037 single base substitution G A downstream_gene_variant BRCA-EU 4 129777037 129777037 single base substitution G A intron_variant BRCA-EU 4 129777038 129777038 single base substitution G A downstream_gene_variant BRCA-EU 4 129777038 129777038 single base substitution G A intron_variant BRCA-EU 4 129777142 129777142 insertion of <=200bp - T downstream_gene_variant BRCA-EU 4 129777142 129777142 insertion of <=200bp - T intron_variant BRCA-EU 4 129778072 129778072 insertion of <=200bp - T downstream_gene_variant BRCA-EU 4 129778072 129778072 insertion of <=200bp - T intron_variant BRCA-EU 4 129778758 129778758 single base substitution C T intron_variant BRCA-EU 4 129780785 129780785 single base substitution C A intron_variant BRCA-EU 4 129781691 129781691 single base substitution C T intron_variant BRCA-EU 4 129787076 129787076 single base substitution C T downstream_gene_variant BRCA-EU 4 129787076 129787076 single base substitution C T intron_variant BRCA-EU 4 129788007 129788007 single base substitution T C downstream_gene_variant BRCA-EU 4 129788007 129788007 single base substitution T C intron_variant BRCA-EU 4 129790020 129790020 single base substitution C G downstream_gene_variant BRCA-EU 4 129790020 129790020 single base substitution C G intron_variant BRCA-EU 4 129791289 129791289 single base substitution C T intron_variant BRCA-EU 4 129795750 129795750 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 129795750 129795750 single base substitution C T downstream_gene_variant BRCA-EU 4 129797331 129797331 single base substitution T C downstream_gene_variant BRCA-EU 4 129798662 129798662 single base substitution C A downstream_gene_variant BRCA-EU 4 129799772 129799772 single base substitution T A downstream_gene_variant BRCA-EU 4 129800374 129800374 single base substitution G T downstream_gene_variant BRCA-EU 4 129801200 129801200 single base substitution A C downstream_gene_variant BRCA-EU 4 129801267 129801267 single base substitution G A downstream_gene_variant BRCA-FR 4 129728594 129728594 single base substitution A T upstream_gene_variant BRCA-FR 4 129740443 129740443 single base substitution G C intron_variant BRCA-FR 4 129748280 129748280 single base substitution C A intron_variant BRCA-FR 4 129748280 129748280 single base substitution C A upstream_gene_variant BRCA-KR 4 129773261 129773261 single base substitution T C 3_prime_UTR_variant BRCA-KR 4 129773261 129773261 single base substitution T C downstream_gene_variant BRCA-KR 4 129773261 129773261 single base substitution T C synonymous_variant F166F 498T>C BRCA-KR 4 129773261 129773261 single base substitution T C synonymous_variant F178F 534T>C BRCA-UK 4 129751226 129751226 single base substitution T G intron_variant BRCA-UK 4 129751226 129751226 single base substitution T G upstream_gene_variant BRCA-US 4 129764141 129764141 single base substitution C G exon_variant BRCA-US 4 129764141 129764141 single base substitution C G missense_variant S29C 86C>G BRCA-US 4 129764183 129764183 single base substitution A C exon_variant BRCA-US 4 129764183 129764183 single base substitution A C missense_variant K43T 128A>C BRCA-US 4 129770145 129770145 single base substitution G A exon_variant BRCA-US 4 129770145 129770145 single base substitution G A intron_variant BRCA-US 4 129770145 129770145 single base substitution G A missense_variant E103K 307G>A BRCA-US 4 129776883 129776883 single base substitution T G downstream_gene_variant BRCA-US 4 129776883 129776883 single base substitution T G synonymous_variant G253G 759T>G BRCA-US 4 129776883 129776883 single base substitution T G synonymous_variant G265G 795T>G BRCA-US 4 129783115 129783115 single base substitution T G missense_variant V401G 1202T>G BRCA-US 4 129783115 129783115 single base substitution T G missense_variant V413G 1238T>G BRCA-US 4 129792615 129792615 single base substitution C G missense_variant S564C 1691C>G BRCA-US 4 129792615 129792615 single base substitution C G missense_variant S576C 1727C>G BTCA-JP 4 129770068 129770068 single base substitution C T intron_variant BTCA-JP 4 129773184 129773184 single base substitution A G downstream_gene_variant BTCA-JP 4 129773184 129773184 single base substitution A G intron_variant BTCA-JP 4 129776746 129776746 single base substitution T A downstream_gene_variant BTCA-JP 4 129776746 129776746 single base substitution T A intron_variant BTCA-JP 4 129776992 129776992 single base substitution A T downstream_gene_variant BTCA-JP 4 129776992 129776992 single base substitution A T intron_variant BTCA-JP 4 129776994 129776994 single base substitution G A downstream_gene_variant BTCA-JP 4 129776994 129776994 single base substitution G A intron_variant BTCA-JP 4 129794011 129794011 single base substitution T A 3_prime_UTR_variant BTCA-JP 4 129794011 129794011 single base substitution T A downstream_gene_variant CESC-US 4 129773220 129773220 single base substitution G A 3_prime_UTR_variant CESC-US 4 129773220 129773220 single base substitution G A downstream_gene_variant CESC-US 4 129773220 129773220 single base substitution G A missense_variant E153K 457G>A CESC-US 4 129773220 129773220 single base substitution G A missense_variant E165K 493G>A CESC-US 4 129776799 129776799 single base substitution C T downstream_gene_variant CESC-US 4 129776799 129776799 single base substitution C T synonymous_variant I225I 675C>T CESC-US 4 129776799 129776799 single base substitution C T synonymous_variant I237I 711C>T CESC-US 4 129782960 129782960 single base substitution C T synonymous_variant F349F 1047C>T CESC-US 4 129782960 129782960 single base substitution C T synonymous_variant F361F 1083C>T CESC-US 4 129793030 129793030 single base substitution G T missense_variant R702S 2106G>T CESC-US 4 129793030 129793030 single base substitution G T missense_variant R714S 2142G>T CLLE-ES 4 129729320 129729320 deletion of <=200bp G - upstream_gene_variant CLLE-ES 4 129731342 129731342 single base substitution C T 5_prime_UTR_variant CLLE-ES 4 129731342 129731342 single base substitution C T intron_variant CLLE-ES 4 129731342 129731342 single base substitution C T upstream_gene_variant CLLE-ES 4 129753107 129753107 single base substitution C G downstream_gene_variant CLLE-ES 4 129753107 129753107 single base substitution C G intron_variant CLLE-ES 4 129767053 129767053 single base substitution T G intron_variant CLLE-ES 4 129782104 129782104 single base substitution A G intron_variant COAD-US 4 129764179 129764179 single base substitution C T exon_variant COAD-US 4 129764179 129764179 single base substitution C T stop_gained R42* 124C>T COAD-US 4 129770218 129770219 deletion of <=200bp GC - 3_prime_UTR_variant COAD-US 4 129770218 129770219 deletion of <=200bp GC - downstream_gene_variant COAD-US 4 129770218 129770219 deletion of <=200bp GC - frameshift_variant G115 COAD-US 4 129770218 129770219 deletion of <=200bp GC - frameshift_variant G127 COAD-US 4 129770255 129770255 single base substitution T C 3_prime_UTR_variant COAD-US 4 129770255 129770255 single base substitution T C downstream_gene_variant COAD-US 4 129770255 129770255 single base substitution T C synonymous_variant C127C 381T>C COAD-US 4 129770255 129770255 single base substitution T C synonymous_variant C139C 417T>C COAD-US 4 129776873 129776873 single base substitution C T downstream_gene_variant COAD-US 4 129776873 129776873 single base substitution C T missense_variant P250L 749C>T COAD-US 4 129776873 129776873 single base substitution C T missense_variant P262L 785C>T COAD-US 4 129783051 129783051 insertion of <=200bp - C frameshift_variant S380L? COAD-US 4 129783051 129783051 insertion of <=200bp - C frameshift_variant S392L? COAD-US 4 129783052 129783052 deletion of <=200bp C - frameshift_variant S380 COAD-US 4 129783052 129783052 deletion of <=200bp C - frameshift_variant S392 COAD-US 4 129783054 129783054 single base substitution C T missense_variant P381S 1141C>T COAD-US 4 129783054 129783054 single base substitution C T missense_variant P393S 1177C>T COAD-US 4 129783197 129783197 single base substitution G A synonymous_variant L428L 1284G>A COAD-US 4 129783197 129783197 single base substitution G A synonymous_variant L440L 1320G>A COAD-US 4 129783315 129783315 single base substitution C T missense_variant R468W 1402C>T COAD-US 4 129783315 129783315 single base substitution C T missense_variant R480W 1438C>T COAD-US 4 129793164 129793164 single base substitution G A missense_variant R747Q 2240G>A COAD-US 4 129793164 129793164 single base substitution G A missense_variant R759Q 2276G>A COAD-US 4 129793187 129793187 single base substitution G A missense_variant D755N 2263G>A COAD-US 4 129793187 129793187 single base substitution G A missense_variant D767N 2299G>A COCA-CN 4 129735906 129735906 single base substitution C T intron_variant COCA-CN 4 129738166 129738166 single base substitution G A intron_variant COCA-CN 4 129738210 129738210 single base substitution T C intron_variant COCA-CN 4 129753068 129753068 single base substitution T C downstream_gene_variant COCA-CN 4 129753068 129753068 single base substitution T C intron_variant COCA-CN 4 129767442 129767442 single base substitution G A intron_variant COCA-CN 4 129778372 129778372 single base substitution T C intron_variant COCA-CN 4 129782824 129782824 single base substitution G A intron_variant COCA-CN 4 129782885 129782885 single base substitution C T synonymous_variant A324A 972C>T COCA-CN 4 129782885 129782885 single base substitution C T synonymous_variant A336A 1008C>T COCA-CN 4 129792445 129792445 single base substitution G T intron_variant COCA-CN 4 129792772 129792772 single base substitution G T missense_variant E616D 1848G>T COCA-CN 4 129792772 129792772 single base substitution G T missense_variant E628D 1884G>T EOPC-DE 4 129785184 129785184 single base substitution A C 3_prime_UTR_variant EOPC-DE 4 129785184 129785184 single base substitution A C intron_variant ESAD-UK 4 129728287 129728287 single base substitution C T upstream_gene_variant ESAD-UK 4 129729643 129729643 single base substitution C G upstream_gene_variant ESAD-UK 4 129729951 129729951 single base substitution C T upstream_gene_variant ESAD-UK 4 129730745 129730745 single base substitution C A upstream_gene_variant ESAD-UK 4 129734474 129734474 single base substitution G C intron_variant ESAD-UK 4 129734827 129734827 single base substitution C A intron_variant ESAD-UK 4 129734865 129734865 single base substitution C T intron_variant ESAD-UK 4 129735727 129735727 single base substitution T C intron_variant ESAD-UK 4 129735771 129735771 single base substitution G C intron_variant ESAD-UK 4 129735773 129735773 single base substitution G A intron_variant ESAD-UK 4 129736125 129736125 single base substitution C T intron_variant ESAD-UK 4 129737570 129737570 single base substitution G T 5_prime_UTR_variant ESAD-UK 4 129737570 129737570 single base substitution G T intron_variant ESAD-UK 4 129738040 129738040 insertion of <=200bp - C intron_variant ESAD-UK 4 129742917 129742917 single base substitution C T intron_variant ESAD-UK 4 129742928 129742928 single base substitution C T intron_variant ESAD-UK 4 129744980 129744980 single base substitution A G intron_variant ESAD-UK 4 129745573 129745573 deletion of <=200bp A - intron_variant ESAD-UK 4 129745679 129745679 insertion of <=200bp - G intron_variant ESAD-UK 4 129746172 129746172 single base substitution C A intron_variant ESAD-UK 4 129746749 129746749 single base substitution G A intron_variant ESAD-UK 4 129746897 129746897 single base substitution C T intron_variant ESAD-UK 4 129747044 129747044 single base substitution C T intron_variant ESAD-UK 4 129747361 129747361 single base substitution G A intron_variant ESAD-UK 4 129748241 129748241 single base substitution C G intron_variant ESAD-UK 4 129748241 129748241 single base substitution C G upstream_gene_variant ESAD-UK 4 129751435 129751435 single base substitution C G intron_variant ESAD-UK 4 129751435 129751435 single base substitution C G upstream_gene_variant ESAD-UK 4 129752606 129752606 single base substitution A C 5_prime_UTR_variant ESAD-UK 4 129752606 129752606 single base substitution A C intron_variant ESAD-UK 4 129752972 129752972 single base substitution C T downstream_gene_variant ESAD-UK 4 129752972 129752972 single base substitution C T splice_region_variant ESAD-UK 4 129755097 129755097 single base substitution T G downstream_gene_variant ESAD-UK 4 129755097 129755097 single base substitution T G intron_variant ESAD-UK 4 129767249 129767249 single base substitution C G intron_variant ESAD-UK 4 129767356 129767356 single base substitution C G intron_variant ESAD-UK 4 129768448 129768448 single base substitution A T intron_variant ESAD-UK 4 129770789 129770789 single base substitution C T downstream_gene_variant ESAD-UK 4 129770789 129770789 single base substitution C T intron_variant ESAD-UK 4 129772219 129772219 single base substitution G T downstream_gene_variant ESAD-UK 4 129772219 129772219 single base substitution G T intron_variant ESAD-UK 4 129772975 129772975 single base substitution C T downstream_gene_variant ESAD-UK 4 129772975 129772975 single base substitution C T intron_variant ESAD-UK 4 129773246 129773246 single base substitution G C 3_prime_UTR_variant ESAD-UK 4 129773246 129773246 single base substitution G C downstream_gene_variant ESAD-UK 4 129773246 129773246 single base substitution G C missense_variant R161S 483G>C ESAD-UK 4 129773246 129773246 single base substitution G C missense_variant R173S 519G>C ESAD-UK 4 129776592 129776592 single base substitution C A downstream_gene_variant ESAD-UK 4 129776592 129776592 single base substitution C A intron_variant ESAD-UK 4 129779269 129779269 single base substitution C T intron_variant ESAD-UK 4 129779650 129779650 single base substitution C T intron_variant ESAD-UK 4 129780353 129780364 deletion of <=200bp GTGTGTGTATGG - intron_variant ESAD-UK 4 129783304 129783304 single base substitution A G missense_variant N464S 1391A>G ESAD-UK 4 129783304 129783304 single base substitution A G missense_variant N476S 1427A>G ESAD-UK 4 129783416 129783418 deletion of <=200bp AGA - 3_prime_UTR_variant ESAD-UK 4 129783416 129783418 deletion of <=200bp AGA - intron_variant ESAD-UK 4 129789613 129789613 single base substitution A T downstream_gene_variant ESAD-UK 4 129789613 129789613 single base substitution A T intron_variant ESAD-UK 4 129794151 129794151 single base substitution C A 3_prime_UTR_variant ESAD-UK 4 129794151 129794151 single base substitution C A downstream_gene_variant ESAD-UK 4 129795418 129795428 deletion of <=200bp TGAGAGTAGAA - 3_prime_UTR_variant ESAD-UK 4 129795418 129795428 deletion of <=200bp TGAGAGTAGAA - downstream_gene_variant ESAD-UK 4 129798687 129798687 single base substitution T G downstream_gene_variant ESAD-UK 4 129798974 129798974 single base substitution T G downstream_gene_variant ESCA-CN 4 129783273 129783273 single base substitution C T synonymous_variant L454L 1360C>T ESCA-CN 4 129783273 129783273 single base substitution C T synonymous_variant L466L 1396C>T ESCA-CN 4 129796159 129796159 single base substitution G A 3_prime_UTR_variant ESCA-CN 4 129796159 129796159 single base substitution G A downstream_gene_variant GBM-US 4 129770219 129770219 single base substitution C G 3_prime_UTR_variant GBM-US 4 129770219 129770219 single base substitution C G downstream_gene_variant GBM-US 4 129770219 129770219 single base substitution C G synonymous_variant G115G 345C>G GBM-US 4 129770219 129770219 single base substitution C G synonymous_variant G127G 381C>G GBM-US 4 129770286 129770286 single base substitution T A 3_prime_UTR_variant GBM-US 4 129770286 129770286 single base substitution T A downstream_gene_variant GBM-US 4 129770286 129770286 single base substitution T A missense_variant W138R 412T>A GBM-US 4 129770286 129770286 single base substitution T A missense_variant W150R 448T>A KIRC-US 4 129782923 129782923 single base substitution T G missense_variant M337R 1010T>G KIRC-US 4 129782923 129782923 single base substitution T G missense_variant M349R 1046T>G KIRC-US 4 129789065 129789065 single base substitution T A downstream_gene_variant KIRC-US 4 129789065 129789065 single base substitution T A missense_variant C508S 1522T>A KIRC-US 4 129789065 129789065 single base substitution T A missense_variant C520S 1558T>A LGG-US 4 129782915 129782915 single base substitution C T synonymous_variant G334G 1002C>T LGG-US 4 129782915 129782915 single base substitution C T synonymous_variant G346G 1038C>T LGG-US 4 129792755 129792755 single base substitution G A missense_variant G611R 1831G>A LGG-US 4 129792755 129792755 single base substitution G A missense_variant G623R 1867G>A LICA-FR 4 129734741 129734741 insertion of <=200bp - T intron_variant LICA-FR 4 129734868 129734868 single base substitution G T intron_variant LICA-FR 4 129736276 129736276 insertion of <=200bp - CTCCCTGTAAGCTCCGC intron_variant LICA-FR 4 129736508 129736508 single base substitution G A intron_variant LICA-FR 4 129766939 129766939 single base substitution G C intron_variant LICA-FR 4 129769024 129769024 single base substitution A T intron_variant LICA-FR 4 129769587 129769587 single base substitution G T intron_variant LICA-FR 4 129782910 129782910 single base substitution C T missense_variant R333W 997C>T LICA-FR 4 129782910 129782910 single base substitution C T missense_variant R345W 1033C>T LICA-FR 4 129793084 129793084 single base substitution G C missense_variant Q720H 2160G>C LICA-FR 4 129793084 129793084 single base substitution G C missense_variant Q732H 2196G>C LICA-FR 4 129797828 129797828 single base substitution G T downstream_gene_variant LIHC-US 4 129792900 129792900 single base substitution G C missense_variant G659A 1976G>C LIHC-US 4 129792900 129792900 single base substitution G C missense_variant G671A 2012G>C LINC-JP 4 129735199 129735199 single base substitution G A intron_variant LINC-JP 4 129738992 129738992 single base substitution C T intron_variant LINC-JP 4 129753039 129753039 single base substitution T A downstream_gene_variant LINC-JP 4 129753039 129753039 single base substitution T A intron_variant LINC-JP 4 129773243 129773243 single base substitution G A 3_prime_UTR_variant LINC-JP 4 129773243 129773243 single base substitution G A downstream_gene_variant LINC-JP 4 129773243 129773243 single base substitution G A synonymous_variant E160E 480G>A LINC-JP 4 129773243 129773243 single base substitution G A synonymous_variant E172E 516G>A LINC-JP 4 129776746 129776746 single base substitution T A downstream_gene_variant LINC-JP 4 129776746 129776746 single base substitution T A intron_variant LINC-JP 4 129776992 129776992 single base substitution A T downstream_gene_variant LINC-JP 4 129776992 129776992 single base substitution A T intron_variant LINC-JP 4 129792507 129792507 single base substitution T G intron_variant LINC-JP 4 129795390 129795390 single base substitution A G 3_prime_UTR_variant LINC-JP 4 129795390 129795390 single base substitution A G downstream_gene_variant LIRI-JP 4 129728148 129728148 deletion of <=200bp A - upstream_gene_variant LIRI-JP 4 129730623 129730630 deletion of <=200bp AAGAGACT - upstream_gene_variant LIRI-JP 4 129737121 129737121 single base substitution C A intron_variant LIRI-JP 4 129737411 129737411 single base substitution A G intron_variant LIRI-JP 4 129737902 129737902 single base substitution A T intron_variant LIRI-JP 4 129740669 129740669 single base substitution T C intron_variant LIRI-JP 4 129741592 129741592 single base substitution C T intron_variant LIRI-JP 4 129742003 129742003 single base substitution C G intron_variant LIRI-JP 4 129745184 129745184 single base substitution G C intron_variant LIRI-JP 4 129746308 129746308 single base substitution C G intron_variant LIRI-JP 4 129751308 129751308 single base substitution G A intron_variant LIRI-JP 4 129751308 129751308 single base substitution G A upstream_gene_variant LIRI-JP 4 129753115 129753115 single base substitution T A downstream_gene_variant LIRI-JP 4 129753115 129753115 single base substitution T A intron_variant LIRI-JP 4 129753951 129753951 single base substitution A C downstream_gene_variant LIRI-JP 4 129753951 129753951 single base substitution A C intron_variant LIRI-JP 4 129755718 129755718 single base substitution T G downstream_gene_variant LIRI-JP 4 129755718 129755718 single base substitution T G intron_variant LIRI-JP 4 129755981 129755981 single base substitution C T downstream_gene_variant LIRI-JP 4 129755981 129755981 single base substitution C T intron_variant LIRI-JP 4 129756736 129756736 single base substitution C T downstream_gene_variant LIRI-JP 4 129756736 129756736 single base substitution C T intron_variant LIRI-JP 4 129761700 129761700 single base substitution C G intron_variant LIRI-JP 4 129764046 129764046 single base substitution T C intron_variant LIRI-JP 4 129766504 129766504 single base substitution G A intron_variant LIRI-JP 4 129769628 129769628 single base substitution C T intron_variant LIRI-JP 4 129770236 129770248 deletion of <=200bp CGCTGGCTGACAG - 3_prime_UTR_variant LIRI-JP 4 129770236 129770248 deletion of <=200bp CGCTGGCTGACAG - downstream_gene_variant LIRI-JP 4 129770236 129770248 deletion of <=200bp CGCTGGCTGACAG - frameshift_variant TLAD?133 LIRI-JP 4 129770236 129770248 deletion of <=200bp CGCTGGCTGACAG - frameshift_variant TLADS121 LIRI-JP 4 129770236 129770248 deletion of <=200bp CGCTGGCTGACAG - frameshift_variant TLADS133 LIRI-JP 4 129775357 129775357 single base substitution C T downstream_gene_variant LIRI-JP 4 129775357 129775357 single base substitution C T intron_variant LIRI-JP 4 129776896 129776896 single base substitution C A downstream_gene_variant LIRI-JP 4 129776896 129776896 single base substitution C A missense_variant P258T 772C>A LIRI-JP 4 129776896 129776896 single base substitution C A missense_variant P270T 808C>A LIRI-JP 4 129777780 129777780 single base substitution G T downstream_gene_variant LIRI-JP 4 129777780 129777780 single base substitution G T intron_variant LIRI-JP 4 129779580 129779580 single base substitution A G intron_variant LIRI-JP 4 129780614 129780614 single base substitution G A intron_variant LIRI-JP 4 129782830 129782830 single base substitution T C intron_variant LIRI-JP 4 129783397 129783397 single base substitution A G intron_variant LIRI-JP 4 129783397 129783397 single base substitution A G missense_variant D507G 1520A>G LIRI-JP 4 129784153 129784153 single base substitution C T 3_prime_UTR_variant LIRI-JP 4 129784153 129784153 single base substitution C T intron_variant LIRI-JP 4 129789655 129789655 single base substitution A G downstream_gene_variant LIRI-JP 4 129789655 129789655 single base substitution A G intron_variant LIRI-JP 4 129789859 129789859 single base substitution T C downstream_gene_variant LIRI-JP 4 129789859 129789859 single base substitution T C intron_variant LIRI-JP 4 129791459 129791459 single base substitution G C intron_variant LIRI-JP 4 129792092 129792092 single base substitution T A intron_variant LIRI-JP 4 129794519 129794519 single base substitution T G 3_prime_UTR_variant LIRI-JP 4 129794519 129794519 single base substitution T G downstream_gene_variant LIRI-JP 4 129795073 129795073 single base substitution A C 3_prime_UTR_variant LIRI-JP 4 129795073 129795073 single base substitution A C downstream_gene_variant LIRI-JP 4 129796232 129796232 single base substitution C T 3_prime_UTR_variant LIRI-JP 4 129796232 129796232 single base substitution C T downstream_gene_variant LIRI-JP 4 129796496 129796496 single base substitution G A downstream_gene_variant LIRI-JP 4 129798915 129798915 single base substitution T G downstream_gene_variant LIRI-JP 4 129799003 129799003 single base substitution A G downstream_gene_variant LIRI-JP 4 129799012 129799012 single base substitution T G downstream_gene_variant LIRI-JP 4 129799023 129799023 single base substitution T C downstream_gene_variant LIRI-JP 4 129799205 129799205 single base substitution T G downstream_gene_variant LUSC-CN 4 129784572 129784572 single base substitution A G 3_prime_UTR_variant LUSC-CN 4 129784572 129784572 single base substitution A G intron_variant LUSC-KR 4 129731534 129731534 single base substitution G T 5_prime_UTR_variant LUSC-KR 4 129731534 129731534 single base substitution G T intron_variant LUSC-KR 4 129731534 129731534 single base substitution G T upstream_gene_variant LUSC-KR 4 129736325 129736325 single base substitution G A intron_variant LUSC-KR 4 129737891 129737891 single base substitution A G intron_variant LUSC-KR 4 129748599 129748599 single base substitution C T intron_variant LUSC-KR 4 129748599 129748599 single base substitution C T upstream_gene_variant LUSC-KR 4 129752732 129752732 single base substitution T G intron_variant LUSC-KR 4 129754109 129754109 single base substitution G T downstream_gene_variant LUSC-KR 4 129754109 129754109 single base substitution G T intron_variant LUSC-KR 4 129758999 129758999 single base substitution G C intron_variant LUSC-KR 4 129760569 129760569 single base substitution C G intron_variant LUSC-KR 4 129761294 129761294 single base substitution A T intron_variant LUSC-KR 4 129765898 129765898 single base substitution G A intron_variant LUSC-KR 4 129765958 129765958 single base substitution G T intron_variant LUSC-KR 4 129773859 129773859 single base substitution A G downstream_gene_variant LUSC-KR 4 129773859 129773859 single base substitution A G intron_variant LUSC-KR 4 129774779 129774779 single base substitution G A downstream_gene_variant LUSC-KR 4 129774779 129774779 single base substitution G A intron_variant LUSC-KR 4 129782263 129782263 single base substitution A G intron_variant LUSC-KR 4 129791912 129791912 single base substitution A C intron_variant LUSC-KR 4 129793338 129793338 single base substitution C T missense_variant S805L 2414C>T LUSC-KR 4 129793338 129793338 single base substitution C T missense_variant S817L 2450C>T LUSC-KR 4 129796084 129796084 single base substitution T C 3_prime_UTR_variant LUSC-KR 4 129796084 129796084 single base substitution T C downstream_gene_variant LUSC-US 4 129767537 129767537 single base substitution G T intron_variant LUSC-US 4 129767537 129767537 single base substitution G T missense_variant R49M 146G>T LUSC-US 4 129776951 129776951 single base substitution A C downstream_gene_variant LUSC-US 4 129776951 129776951 single base substitution A C missense_variant E276A 827A>C LUSC-US 4 129776951 129776951 single base substitution A C missense_variant E288A 863A>C MALY-DE 4 129726608 129726608 single base substitution C T upstream_gene_variant MALY-DE 4 129731485 129731485 single base substitution G A 5_prime_UTR_variant MALY-DE 4 129731485 129731485 single base substitution G A intron_variant MALY-DE 4 129731485 129731485 single base substitution G A upstream_gene_variant MALY-DE 4 129731842 129731842 single base substitution C A intron_variant MALY-DE 4 129731842 129731842 single base substitution C A upstream_gene_variant MALY-DE 4 129731847 129731847 single base substitution T A intron_variant MALY-DE 4 129731847 129731847 single base substitution T A upstream_gene_variant MALY-DE 4 129732380 129732380 single base substitution A C intron_variant MALY-DE 4 129732380 129732380 single base substitution A C upstream_gene_variant MALY-DE 4 129754272 129754272 single base substitution C T downstream_gene_variant MALY-DE 4 129754272 129754272 single base substitution C T intron_variant MALY-DE 4 129759090 129759090 single base substitution T G intron_variant MALY-DE 4 129763522 129763522 single base substitution T G intron_variant MALY-DE 4 129775796 129775796 insertion of <=200bp - T downstream_gene_variant MALY-DE 4 129775796 129775796 insertion of <=200bp - T intron_variant MALY-DE 4 129784050 129784051 deletion of <=200bp TG - 3_prime_UTR_variant MALY-DE 4 129784050 129784051 deletion of <=200bp TG - intron_variant MALY-DE 4 129787679 129787679 insertion of <=200bp - AC downstream_gene_variant MALY-DE 4 129787679 129787679 insertion of <=200bp - AC intron_variant MALY-DE 4 129790809 129790811 deletion of <=200bp TAA - intron_variant MALY-DE 4 129791925 129791927 deletion of <=200bp ATA - intron_variant MALY-DE 4 129795887 129795887 insertion of <=200bp - T 3_prime_UTR_variant MALY-DE 4 129795887 129795887 insertion of <=200bp - T downstream_gene_variant MELA-AU 4 129726206 129726206 single base substitution C T upstream_gene_variant MELA-AU 4 129726387 129726387 single base substitution C T upstream_gene_variant MELA-AU 4 129726725 129726725 single base substitution C T upstream_gene_variant MELA-AU 4 129726791 129726791 single base substitution G A upstream_gene_variant MELA-AU 4 129726850 129726850 single base substitution C T upstream_gene_variant MELA-AU 4 129727397 129727397 single base substitution G A upstream_gene_variant MELA-AU 4 129727489 129727489 single base substitution C T upstream_gene_variant MELA-AU 4 129727569 129727569 single base substitution A T upstream_gene_variant MELA-AU 4 129728172 129728172 single base substitution G A upstream_gene_variant MELA-AU 4 129728327 129728327 single base substitution G A upstream_gene_variant MELA-AU 4 129728696 129728696 single base substitution C T upstream_gene_variant MELA-AU 4 129729227 129729227 single base substitution G A upstream_gene_variant MELA-AU 4 129729685 129729685 single base substitution C T upstream_gene_variant MELA-AU 4 129730311 129730311 single base substitution T A upstream_gene_variant MELA-AU 4 129730926 129730926 single base substitution G A 5_prime_UTR_variant MELA-AU 4 129730926 129730926 single base substitution G A upstream_gene_variant MELA-AU 4 129733649 129733649 single base substitution G A intron_variant MELA-AU 4 129734389 129734389 single base substitution C T intron_variant MELA-AU 4 129736047 129736047 single base substitution G A intron_variant MELA-AU 4 129736295 129736295 single base substitution C T intron_variant MELA-AU 4 129736308 129736308 single base substitution G A intron_variant MELA-AU 4 129736325 129736325 single base substitution G A intron_variant MELA-AU 4 129736329 129736329 single base substitution C T intron_variant MELA-AU 4 129736721 129736721 single base substitution T G intron_variant MELA-AU 4 129737302 129737302 single base substitution C T intron_variant MELA-AU 4 129738075 129738075 single base substitution C T intron_variant MELA-AU 4 129738263 129738263 single base substitution C G intron_variant MELA-AU 4 129740340 129740340 single base substitution A G intron_variant MELA-AU 4 129742740 129742740 single base substitution C T intron_variant MELA-AU 4 129743265 129743265 single base substitution A C intron_variant MELA-AU 4 129743941 129743941 single base substitution C T intron_variant MELA-AU 4 129744092 129744092 single base substitution C T intron_variant MELA-AU 4 129745106 129745106 single base substitution T G intron_variant MELA-AU 4 129745502 129745502 single base substitution G A intron_variant MELA-AU 4 129746236 129746236 single base substitution C T intron_variant MELA-AU 4 129746315 129746315 single base substitution C T intron_variant MELA-AU 4 129746678 129746678 single base substitution C T intron_variant MELA-AU 4 129747041 129747041 single base substitution C T intron_variant MELA-AU 4 129747527 129747527 single base substitution T C intron_variant MELA-AU 4 129748213 129748213 single base substitution T A intron_variant MELA-AU 4 129748213 129748213 single base substitution T A upstream_gene_variant MELA-AU 4 129748282 129748282 single base substitution C T intron_variant MELA-AU 4 129748282 129748282 single base substitution C T upstream_gene_variant MELA-AU 4 129749012 129749012 single base substitution G A intron_variant MELA-AU 4 129749012 129749012 single base substitution G A upstream_gene_variant MELA-AU 4 129749623 129749624 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 129749623 129749624 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 129750123 129750123 single base substitution C T intron_variant MELA-AU 4 129750123 129750123 single base substitution C T upstream_gene_variant MELA-AU 4 129751196 129751196 single base substitution C G intron_variant MELA-AU 4 129751196 129751196 single base substitution C G upstream_gene_variant MELA-AU 4 129751496 129751496 single base substitution C T intron_variant MELA-AU 4 129751496 129751496 single base substitution C T upstream_gene_variant MELA-AU 4 129751634 129751634 single base substitution C T intron_variant MELA-AU 4 129751634 129751634 single base substitution C T upstream_gene_variant MELA-AU 4 129753053 129753053 single base substitution G A downstream_gene_variant MELA-AU 4 129753053 129753053 single base substitution G A intron_variant MELA-AU 4 129753470 129753470 single base substitution C T downstream_gene_variant MELA-AU 4 129753470 129753470 single base substitution C T intron_variant MELA-AU 4 129753595 129753596 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 4 129753595 129753596 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 4 129754019 129754019 single base substitution C T downstream_gene_variant MELA-AU 4 129754019 129754019 single base substitution C T intron_variant MELA-AU 4 129754462 129754462 single base substitution C T downstream_gene_variant MELA-AU 4 129754462 129754462 single base substitution C T intron_variant MELA-AU 4 129754776 129754776 single base substitution G A downstream_gene_variant MELA-AU 4 129754776 129754776 single base substitution G A intron_variant MELA-AU 4 129754803 129754803 single base substitution C T downstream_gene_variant MELA-AU 4 129754803 129754803 single base substitution C T intron_variant MELA-AU 4 129755051 129755051 single base substitution C T downstream_gene_variant MELA-AU 4 129755051 129755051 single base substitution C T intron_variant MELA-AU 4 129755450 129755450 single base substitution C G downstream_gene_variant MELA-AU 4 129755450 129755450 single base substitution C G intron_variant MELA-AU 4 129755530 129755530 single base substitution C T downstream_gene_variant MELA-AU 4 129755530 129755530 single base substitution C T intron_variant MELA-AU 4 129755563 129755564 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 129755563 129755564 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 129756348 129756348 single base substitution T C downstream_gene_variant MELA-AU 4 129756348 129756348 single base substitution T C intron_variant MELA-AU 4 129757616 129757616 single base substitution C T downstream_gene_variant MELA-AU 4 129757616 129757616 single base substitution C T intron_variant MELA-AU 4 129757851 129757851 single base substitution T A downstream_gene_variant MELA-AU 4 129757851 129757851 single base substitution T A intron_variant MELA-AU 4 129758007 129758007 single base substitution C T intron_variant MELA-AU 4 129758024 129758024 single base substitution C T intron_variant MELA-AU 4 129758149 129758149 single base substitution C T intron_variant MELA-AU 4 129758886 129758886 single base substitution C T intron_variant MELA-AU 4 129759929 129759929 single base substitution C T intron_variant MELA-AU 4 129760544 129760544 single base substitution T C intron_variant MELA-AU 4 129760711 129760711 single base substitution C T intron_variant MELA-AU 4 129761476 129761476 single base substitution C T intron_variant MELA-AU 4 129761480 129761480 single base substitution G A intron_variant MELA-AU 4 129761625 129761625 single base substitution C T intron_variant MELA-AU 4 129761918 129761919 multiple base substitution (>=2bp and <=200bp) AG TT intron_variant MELA-AU 4 129764108 129764108 single base substitution G T missense_variant S18I 53G>T MELA-AU 4 129764108 129764108 single base substitution G T splice_region_variant MELA-AU 4 129764143 129764143 single base substitution C T exon_variant MELA-AU 4 129764143 129764143 single base substitution C T stop_gained Q30* 88C>T MELA-AU 4 129764295 129764295 single base substitution C T intron_variant MELA-AU 4 129764481 129764481 single base substitution C T intron_variant MELA-AU 4 129765053 129765053 single base substitution T C intron_variant MELA-AU 4 129765204 129765204 single base substitution C T intron_variant MELA-AU 4 129765516 129765516 single base substitution T A intron_variant MELA-AU 4 129766658 129766659 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 129766824 129766824 single base substitution C T intron_variant MELA-AU 4 129767104 129767104 single base substitution C T intron_variant MELA-AU 4 129767187 129767187 single base substitution C T intron_variant MELA-AU 4 129768363 129768363 single base substitution C T intron_variant MELA-AU 4 129768894 129768894 single base substitution C T intron_variant MELA-AU 4 129769277 129769278 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 129770822 129770822 single base substitution C T downstream_gene_variant MELA-AU 4 129770822 129770822 single base substitution C T intron_variant MELA-AU 4 129771280 129771280 single base substitution C T downstream_gene_variant MELA-AU 4 129771280 129771280 single base substitution C T intron_variant MELA-AU 4 129771408 129771408 single base substitution C A downstream_gene_variant MELA-AU 4 129771408 129771408 single base substitution C A intron_variant MELA-AU 4 129772116 129772116 single base substitution C T downstream_gene_variant MELA-AU 4 129772116 129772116 single base substitution C T intron_variant MELA-AU 4 129772640 129772640 single base substitution C T downstream_gene_variant MELA-AU 4 129772640 129772640 single base substitution C T intron_variant MELA-AU 4 129772727 129772728 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 129772727 129772728 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 129773313 129773313 single base substitution C T downstream_gene_variant MELA-AU 4 129773313 129773313 single base substitution C T synonymous_variant L184L 550C>T MELA-AU 4 129773313 129773313 single base substitution C T synonymous_variant L196L 586C>T MELA-AU 4 129773321 129773321 single base substitution C T downstream_gene_variant MELA-AU 4 129773321 129773321 single base substitution C T synonymous_variant I186I 558C>T MELA-AU 4 129773321 129773321 single base substitution C T synonymous_variant I198I 594C>T MELA-AU 4 129774630 129774630 single base substitution T G downstream_gene_variant MELA-AU 4 129774630 129774630 single base substitution T G intron_variant MELA-AU 4 129775811 129775811 single base substitution G A downstream_gene_variant MELA-AU 4 129775811 129775811 single base substitution G A intron_variant MELA-AU 4 129777845 129777845 single base substitution C T downstream_gene_variant MELA-AU 4 129777845 129777845 single base substitution C T intron_variant MELA-AU 4 129777934 129777934 single base substitution C T downstream_gene_variant MELA-AU 4 129777934 129777934 single base substitution C T intron_variant MELA-AU 4 129778561 129778561 single base substitution G A stop_gained W299* 897G>A MELA-AU 4 129778561 129778561 single base substitution G A stop_gained W311* 933G>A MELA-AU 4 129779223 129779223 single base substitution T C intron_variant MELA-AU 4 129779753 129779753 single base substitution T C intron_variant MELA-AU 4 129779788 129779788 single base substitution C T intron_variant MELA-AU 4 129781052 129781053 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 4 129781721 129781721 single base substitution C T intron_variant MELA-AU 4 129782106 129782106 single base substitution C T intron_variant MELA-AU 4 129782692 129782692 single base substitution G T intron_variant MELA-AU 4 129783111 129783111 single base substitution C T missense_variant R400W 1198C>T MELA-AU 4 129783111 129783111 single base substitution C T missense_variant R412W 1234C>T MELA-AU 4 129783607 129783608 multiple base substitution (>=2bp and <=200bp) AA TT 3_prime_UTR_variant MELA-AU 4 129783607 129783608 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 4 129784300 129784300 single base substitution T C 3_prime_UTR_variant MELA-AU 4 129784300 129784300 single base substitution T C intron_variant MELA-AU 4 129785153 129785153 single base substitution T C 3_prime_UTR_variant MELA-AU 4 129785153 129785153 single base substitution T C intron_variant MELA-AU 4 129786873 129786873 single base substitution C T downstream_gene_variant MELA-AU 4 129786873 129786873 single base substitution C T intron_variant MELA-AU 4 129787671 129787671 single base substitution C T downstream_gene_variant MELA-AU 4 129787671 129787671 single base substitution C T intron_variant MELA-AU 4 129788652 129788652 single base substitution G C downstream_gene_variant MELA-AU 4 129788652 129788652 single base substitution G C intron_variant MELA-AU 4 129788725 129788725 single base substitution G A downstream_gene_variant MELA-AU 4 129788725 129788725 single base substitution G A intron_variant MELA-AU 4 129789015 129789015 single base substitution G A downstream_gene_variant MELA-AU 4 129789015 129789015 single base substitution G A missense_variant R491Q 1472G>A MELA-AU 4 129789015 129789015 single base substitution G A missense_variant R503Q 1508G>A MELA-AU 4 129789195 129789201 deletion of <=200bp AAGAAAT - downstream_gene_variant MELA-AU 4 129789195 129789201 deletion of <=200bp AAGAAAT - intron_variant MELA-AU 4 129789500 129789501 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 129789500 129789501 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 129789542 129789542 single base substitution G C downstream_gene_variant MELA-AU 4 129789542 129789542 single base substitution G C intron_variant MELA-AU 4 129790359 129790359 single base substitution G A downstream_gene_variant MELA-AU 4 129790359 129790359 single base substitution G A intron_variant MELA-AU 4 129791718 129791718 single base substitution T A intron_variant MELA-AU 4 129791787 129791787 single base substitution C T intron_variant MELA-AU 4 129794169 129794169 single base substitution G A 3_prime_UTR_variant MELA-AU 4 129794169 129794169 single base substitution G A downstream_gene_variant MELA-AU 4 129795970 129795970 single base substitution G A 3_prime_UTR_variant MELA-AU 4 129795970 129795970 single base substitution G A downstream_gene_variant MELA-AU 4 129796453 129796453 single base substitution T A downstream_gene_variant MELA-AU 4 129797731 129797731 single base substitution C A downstream_gene_variant MELA-AU 4 129799254 129799254 single base substitution C T downstream_gene_variant MELA-AU 4 129800064 129800064 single base substitution A C downstream_gene_variant MELA-AU 4 129800407 129800407 single base substitution G A downstream_gene_variant MELA-AU 4 129801135 129801135 single base substitution G A downstream_gene_variant MELA-AU 4 129801327 129801327 single base substitution T C downstream_gene_variant ORCA-IN 4 129736275 129736275 insertion of <=200bp - CTCCCTGTAAGCTCCGC intron_variant ORCA-IN 4 129772645 129772645 single base substitution A G downstream_gene_variant ORCA-IN 4 129772645 129772645 single base substitution A G intron_variant ORCA-IN 4 129774167 129774167 single base substitution C T downstream_gene_variant ORCA-IN 4 129774167 129774167 single base substitution C T intron_variant ORCA-IN 4 129796595 129796595 single base substitution C T downstream_gene_variant OV-AU 4 129730764 129730764 single base substitution C G upstream_gene_variant OV-AU 4 129732384 129732384 single base substitution C A intron_variant OV-AU 4 129732384 129732384 single base substitution C A upstream_gene_variant OV-AU 4 129746029 129746029 single base substitution T C intron_variant OV-AU 4 129746833 129746833 single base substitution C T intron_variant OV-AU 4 129748122 129748122 single base substitution C T intron_variant OV-AU 4 129748122 129748122 single base substitution C T upstream_gene_variant OV-AU 4 129748220 129748220 single base substitution G A intron_variant OV-AU 4 129748220 129748220 single base substitution G A upstream_gene_variant OV-AU 4 129752652 129752652 single base substitution T C 5_prime_UTR_variant OV-AU 4 129752652 129752652 single base substitution T C intron_variant OV-AU 4 129754572 129754572 single base substitution A G downstream_gene_variant OV-AU 4 129754572 129754572 single base substitution A G intron_variant OV-AU 4 129778366 129778366 single base substitution A C intron_variant OV-AU 4 129784557 129784557 single base substitution T C 3_prime_UTR_variant OV-AU 4 129784557 129784557 single base substitution T C intron_variant OV-AU 4 129786080 129786080 single base substitution C T downstream_gene_variant OV-AU 4 129786080 129786080 single base substitution C T intron_variant OV-AU 4 129786482 129786482 single base substitution C G downstream_gene_variant OV-AU 4 129786482 129786482 single base substitution C G intron_variant OV-AU 4 129787149 129787149 single base substitution G A downstream_gene_variant OV-AU 4 129787149 129787149 single base substitution G A intron_variant OV-AU 4 129793255 129793276 deletion of <=200bp GGCAAAAAGCAAATTAAAATCC - frameshift_variant RAKSKLKS777 OV-AU 4 129793255 129793276 deletion of <=200bp GGCAAAAAGCAAATTAAAATCC - frameshift_variant RAKSKLKS789 PACA-AU 4 129726099 129726099 single base substitution G A upstream_gene_variant PACA-AU 4 129728595 129728595 single base substitution T A upstream_gene_variant PACA-AU 4 129734204 129734214 deletion of <=200bp AATACCTTTCA - intron_variant PACA-AU 4 129740434 129740434 single base substitution T G intron_variant PACA-AU 4 129741626 129741626 single base substitution T C intron_variant PACA-AU 4 129744086 129744086 deletion of <=200bp T - intron_variant PACA-AU 4 129754836 129754836 single base substitution G A downstream_gene_variant PACA-AU 4 129754836 129754836 single base substitution G A intron_variant PACA-AU 4 129756602 129756602 single base substitution C T downstream_gene_variant PACA-AU 4 129756602 129756602 single base substitution C T intron_variant PACA-AU 4 129756936 129756936 single base substitution A G downstream_gene_variant PACA-AU 4 129756936 129756936 single base substitution A G intron_variant PACA-AU 4 129783198 129783198 single base substitution C T missense_variant R429W 1285C>T PACA-AU 4 129783198 129783198 single base substitution C T missense_variant R441W 1321C>T PACA-AU 4 129783343 129783343 single base substitution T G missense_variant L477R 1430T>G PACA-AU 4 129783343 129783343 single base substitution T G missense_variant L489R 1466T>G PACA-AU 4 129790740 129790740 single base substitution C G downstream_gene_variant PACA-AU 4 129790740 129790740 single base substitution C G intron_variant PACA-AU 4 129791458 129791458 single base substitution T C intron_variant PACA-AU 4 129797585 129797585 single base substitution C A downstream_gene_variant PACA-AU 4 129799705 129799705 single base substitution T A downstream_gene_variant PACA-CA 4 129731136 129731136 single base substitution G C 5_prime_UTR_variant PACA-CA 4 129731136 129731136 single base substitution G C intron_variant PACA-CA 4 129731136 129731136 single base substitution G C upstream_gene_variant PACA-CA 4 129733503 129733503 single base substitution C T intron_variant PACA-CA 4 129736668 129736668 single base substitution G A intron_variant PACA-CA 4 129738817 129738817 single base substitution C T intron_variant PACA-CA 4 129739400 129739400 single base substitution C T intron_variant PACA-CA 4 129740997 129740997 single base substitution A T intron_variant PACA-CA 4 129743170 129743170 single base substitution T C intron_variant PACA-CA 4 129744652 129744652 insertion of <=200bp - T intron_variant PACA-CA 4 129744992 129744992 single base substitution G A intron_variant PACA-CA 4 129750790 129750790 deletion of <=200bp A - intron_variant PACA-CA 4 129750790 129750790 deletion of <=200bp A - upstream_gene_variant PACA-CA 4 129751392 129751392 single base substitution A C intron_variant PACA-CA 4 129751392 129751392 single base substitution A C upstream_gene_variant PACA-CA 4 129752731 129752731 single base substitution T C intron_variant PACA-CA 4 129756141 129756141 single base substitution A T downstream_gene_variant PACA-CA 4 129756141 129756141 single base substitution A T intron_variant PACA-CA 4 129770119 129770119 deletion of <=200bp T - intron_variant PACA-CA 4 129772067 129772067 single base substitution G C downstream_gene_variant PACA-CA 4 129772067 129772067 single base substitution G C intron_variant PACA-CA 4 129775763 129775763 single base substitution C T downstream_gene_variant PACA-CA 4 129775763 129775763 single base substitution C T intron_variant PACA-CA 4 129776088 129776088 deletion of <=200bp T - downstream_gene_variant PACA-CA 4 129776088 129776088 deletion of <=200bp T - intron_variant PACA-CA 4 129776592 129776592 single base substitution C G downstream_gene_variant PACA-CA 4 129776592 129776592 single base substitution C G intron_variant PACA-CA 4 129776636 129776636 single base substitution C T downstream_gene_variant PACA-CA 4 129776636 129776636 single base substitution C T intron_variant PACA-CA 4 129785300 129785300 single base substitution T C 3_prime_UTR_variant PACA-CA 4 129785300 129785300 single base substitution T C downstream_gene_variant PACA-CA 4 129785300 129785300 single base substitution T C intron_variant PACA-CA 4 129785373 129785373 single base substitution G A 3_prime_UTR_variant PACA-CA 4 129785373 129785373 single base substitution G A downstream_gene_variant PACA-CA 4 129785373 129785373 single base substitution G A intron_variant PACA-CA 4 129792133 129792133 single base substitution C T intron_variant PACA-CA 4 129797372 129797372 single base substitution T G downstream_gene_variant PACA-CA 4 129800141 129800141 single base substitution C T downstream_gene_variant PACA-CA 4 129800572 129800572 single base substitution C G downstream_gene_variant PACA-CA 4 129801075 129801075 single base substitution G A downstream_gene_variant PAEN-AU 4 129747952 129747952 single base substitution A G intron_variant PAEN-AU 4 129747952 129747952 single base substitution A G upstream_gene_variant PAEN-AU 4 129758902 129758902 single base substitution A T intron_variant PAEN-AU 4 129797826 129797826 single base substitution A G downstream_gene_variant PAEN-AU 4 129799728 129799728 single base substitution T G downstream_gene_variant PAEN-IT 4 129745188 129745188 single base substitution C G intron_variant PAEN-IT 4 129778519 129778519 single base substitution G T missense_variant M285I 855G>T PAEN-IT 4 129778519 129778519 single base substitution G T missense_variant M297I 891G>T PBCA-DE 4 129734141 129734141 single base substitution A T intron_variant PBCA-DE 4 129737807 129737807 single base substitution T C intron_variant PBCA-DE 4 129742987 129742987 single base substitution T A intron_variant PBCA-DE 4 129748988 129748988 single base substitution G A intron_variant PBCA-DE 4 129748988 129748988 single base substitution G A upstream_gene_variant PBCA-DE 4 129758740 129758740 single base substitution T C intron_variant PBCA-DE 4 129762433 129762434 deletion of <=200bp AG - intron_variant PBCA-DE 4 129763538 129763538 single base substitution T C intron_variant PBCA-DE 4 129780327 129780328 deletion of <=200bp GT - intron_variant PBCA-DE 4 129780502 129780502 single base substitution G A intron_variant PBCA-DE 4 129784050 129784050 insertion of <=200bp - TGTG 3_prime_UTR_variant PBCA-DE 4 129784050 129784050 insertion of <=200bp - TGTG intron_variant PBCA-DE 4 129784050 129784051 deletion of <=200bp TG - 3_prime_UTR_variant PBCA-DE 4 129784050 129784051 deletion of <=200bp TG - intron_variant PBCA-DE 4 129801105 129801105 single base substitution A G downstream_gene_variant PRAD-CA 4 129731846 129731846 single base substitution A G intron_variant PRAD-CA 4 129731846 129731846 single base substitution A G upstream_gene_variant PRAD-CA 4 129733233 129733233 single base substitution G C intron_variant PRAD-CA 4 129762346 129762346 single base substitution G A intron_variant PRAD-CA 4 129768700 129768700 single base substitution C T intron_variant PRAD-CA 4 129783990 129783990 single base substitution A C 3_prime_UTR_variant PRAD-CA 4 129783990 129783990 single base substitution A C intron_variant PRAD-CA 4 129794410 129794410 single base substitution G A 3_prime_UTR_variant PRAD-CA 4 129794410 129794410 single base substitution G A downstream_gene_variant PRAD-CA 4 129801243 129801243 single base substitution G C downstream_gene_variant PRAD-UK 4 129740088 129740088 single base substitution G T intron_variant PRAD-UK 4 129740629 129740629 single base substitution G C intron_variant PRAD-UK 4 129743784 129743784 single base substitution G A intron_variant PRAD-UK 4 129748027 129748027 single base substitution C T intron_variant PRAD-UK 4 129748027 129748027 single base substitution C T upstream_gene_variant PRAD-UK 4 129757506 129757506 single base substitution A G downstream_gene_variant PRAD-UK 4 129757506 129757506 single base substitution A G intron_variant PRAD-UK 4 129760127 129760127 single base substitution C A intron_variant PRAD-UK 4 129776029 129776062 deletion of <=200bp TTGTTTAATTTTGCCATCTTGTACAAAACAGGCT - downstream_gene_variant PRAD-UK 4 129776029 129776062 deletion of <=200bp TTGTTTAATTTTGCCATCTTGTACAAAACAGGCT - intron_variant PRAD-UK 4 129779082 129779082 single base substitution A G intron_variant PRAD-UK 4 129783768 129783768 single base substitution C T 3_prime_UTR_variant PRAD-UK 4 129783768 129783768 single base substitution C T intron_variant PRAD-UK 4 129786844 129786844 single base substitution T C downstream_gene_variant PRAD-UK 4 129786844 129786844 single base substitution T C intron_variant READ-US 4 129773331 129773331 single base substitution G T downstream_gene_variant READ-US 4 129773331 129773331 single base substitution G T stop_gained E190* 568G>T READ-US 4 129773331 129773331 single base substitution G T stop_gained E202* 604G>T RECA-EU 4 129732098 129732098 single base substitution T C intron_variant RECA-EU 4 129732098 129732098 single base substitution T C upstream_gene_variant RECA-EU 4 129733686 129733686 single base substitution C A intron_variant RECA-EU 4 129736525 129736525 single base substitution G A intron_variant RECA-EU 4 129736692 129736692 single base substitution T C intron_variant RECA-EU 4 129749547 129749547 single base substitution A G intron_variant RECA-EU 4 129749547 129749547 single base substitution A G upstream_gene_variant RECA-EU 4 129758109 129758109 single base substitution T C intron_variant RECA-EU 4 129758861 129758861 single base substitution T C intron_variant RECA-EU 4 129761483 129761483 single base substitution A G intron_variant RECA-EU 4 129780510 129780510 single base substitution G A intron_variant RECA-EU 4 129799427 129799427 single base substitution A G downstream_gene_variant SKCA-BR 4 129726539 129726539 single base substitution G A upstream_gene_variant SKCA-BR 4 129726784 129726784 single base substitution G A upstream_gene_variant SKCA-BR 4 129728262 129728262 single base substitution G A upstream_gene_variant SKCA-BR 4 129728263 129728263 single base substitution G A upstream_gene_variant SKCA-BR 4 129732636 129732636 single base substitution T G intron_variant SKCA-BR 4 129732636 129732636 single base substitution T G upstream_gene_variant SKCA-BR 4 129732857 129732857 single base substitution C G intron_variant SKCA-BR 4 129732857 129732857 single base substitution C G upstream_gene_variant SKCA-BR 4 129734141 129734141 single base substitution A T intron_variant SKCA-BR 4 129734148 129734148 single base substitution C T intron_variant SKCA-BR 4 129734562 129734565 deletion of <=200bp CTTT - intron_variant SKCA-BR 4 129735812 129735812 single base substitution G T intron_variant SKCA-BR 4 129736205 129736205 insertion of <=200bp - CT intron_variant SKCA-BR 4 129737167 129737167 insertion of <=200bp - CT intron_variant SKCA-BR 4 129738109 129738109 single base substitution C T intron_variant SKCA-BR 4 129738645 129738645 single base substitution C A intron_variant SKCA-BR 4 129745145 129745145 single base substitution C T intron_variant SKCA-BR 4 129746620 129746620 single base substitution C T intron_variant SKCA-BR 4 129757060 129757060 single base substitution C T downstream_gene_variant SKCA-BR 4 129757060 129757060 single base substitution C T intron_variant SKCA-BR 4 129759929 129759929 single base substitution C T intron_variant SKCA-BR 4 129760003 129760003 single base substitution C T intron_variant SKCA-BR 4 129765275 129765275 single base substitution C T intron_variant SKCA-BR 4 129770827 129770827 single base substitution C T downstream_gene_variant SKCA-BR 4 129770827 129770827 single base substitution C T intron_variant SKCA-BR 4 129771361 129771385 deletion of <=200bp ATCACTTGAGGTGATTCTTCTCAAG - downstream_gene_variant SKCA-BR 4 129771361 129771385 deletion of <=200bp ATCACTTGAGGTGATTCTTCTCAAG - intron_variant SKCA-BR 4 129773965 129773990 deletion of <=200bp CTCTTCGTAGCTTATGGTGATTTGGG - downstream_gene_variant SKCA-BR 4 129773965 129773990 deletion of <=200bp CTCTTCGTAGCTTATGGTGATTTGGG - intron_variant SKCA-BR 4 129775700 129775707 deletion of <=200bp GCTTCCAT - downstream_gene_variant SKCA-BR 4 129775700 129775707 deletion of <=200bp GCTTCCAT - intron_variant SKCA-BR 4 129779758 129779759 deletion of <=200bp AT - intron_variant SKCA-BR 4 129782188 129782188 single base substitution A T intron_variant SKCA-BR 4 129782189 129782189 single base substitution C T intron_variant SKCA-BR 4 129795417 129795417 single base substitution G A 3_prime_UTR_variant SKCA-BR 4 129795417 129795417 single base substitution G A downstream_gene_variant SKCA-BR 4 129800276 129800276 single base substitution G A downstream_gene_variant SKCM-US 4 129764135 129764135 single base substitution C T exon_variant SKCM-US 4 129764135 129764135 single base substitution C T missense_variant S27F 80C>T SKCM-US 4 129764136 129764136 single base substitution C T exon_variant SKCM-US 4 129764136 129764136 single base substitution C T synonymous_variant S27S 81C>T SKCM-US 4 129764143 129764143 single base substitution C T exon_variant SKCM-US 4 129764143 129764143 single base substitution C T stop_gained Q30* 88C>T SKCM-US 4 129778548 129778548 single base substitution C T missense_variant P295L 884C>T SKCM-US 4 129778548 129778548 single base substitution C T missense_variant P307L 920C>T SKCM-US 4 129782889 129782889 single base substitution C T missense_variant H326Y 976C>T SKCM-US 4 129782889 129782889 single base substitution C T missense_variant H338Y 1012C>T SKCM-US 4 129782942 129782942 single base substitution G A synonymous_variant E343E 1029G>A SKCM-US 4 129782942 129782942 single base substitution G A synonymous_variant E355E 1065G>A SKCM-US 4 129783053 129783053 single base substitution C T synonymous_variant S380S 1140C>T SKCM-US 4 129783053 129783053 single base substitution C T synonymous_variant S392S 1176C>T SKCM-US 4 129783278 129783278 single base substitution C T synonymous_variant I455I 1365C>T SKCM-US 4 129783278 129783278 single base substitution C T synonymous_variant I467I 1401C>T SKCM-US 4 129792669 129792669 single base substitution C T missense_variant P582L 1745C>T SKCM-US 4 129792669 129792669 single base substitution C T missense_variant P594L 1781C>T STAD-US 4 129767570 129767570 single base substitution A G intron_variant STAD-US 4 129767570 129767570 single base substitution A G missense_variant D60G 179A>G STAD-US 4 129773269 129773269 single base substitution G A 3_prime_UTR_variant STAD-US 4 129773269 129773269 single base substitution G A downstream_gene_variant STAD-US 4 129773269 129773269 single base substitution G A missense_variant R169Q 506G>A STAD-US 4 129773269 129773269 single base substitution G A missense_variant R181Q 542G>A STAD-US 4 129773352 129773352 single base substitution T C downstream_gene_variant STAD-US 4 129773352 129773352 single base substitution T C missense_variant C197R 589T>C STAD-US 4 129773352 129773352 single base substitution T C missense_variant C209R 625T>C STAD-US 4 129776926 129776926 single base substitution G A downstream_gene_variant STAD-US 4 129776926 129776926 single base substitution G A missense_variant V268I 802G>A STAD-US 4 129776926 129776926 single base substitution G A missense_variant V280I 838G>A STAD-US 4 129783017 129783017 deletion of <=200bp G - frameshift_variant K368 STAD-US 4 129783017 129783017 deletion of <=200bp G - frameshift_variant K380 STAD-US 4 129783052 129783052 deletion of <=200bp C - frameshift_variant S380 STAD-US 4 129783052 129783052 deletion of <=200bp C - frameshift_variant S392 STAD-US 4 129783206 129783206 single base substitution T C synonymous_variant P431P 1293T>C STAD-US 4 129783206 129783206 single base substitution T C synonymous_variant P443P 1329T>C STAD-US 4 129783281 129783281 single base substitution C A synonymous_variant T456T 1368C>A STAD-US 4 129783281 129783281 single base substitution C A synonymous_variant T468T 1404C>A UCEC-US 4 129767597 129767597 single base substitution A C intron_variant UCEC-US 4 129767597 129767597 single base substitution A C missense_variant Y69S 206A>C UCEC-US 4 129770294 129770294 single base substitution A G 3_prime_UTR_variant UCEC-US 4 129770294 129770294 single base substitution A G downstream_gene_variant UCEC-US 4 129770294 129770294 single base substitution A G synonymous_variant E140E 420A>G UCEC-US 4 129770294 129770294 single base substitution A G synonymous_variant E152E 456A>G UCEC-US 4 129773277 129773277 single base substitution G A 3_prime_UTR_variant UCEC-US 4 129773277 129773277 single base substitution G A downstream_gene_variant UCEC-US 4 129773277 129773277 single base substitution G A missense_variant D172N 514G>A UCEC-US 4 129773277 129773277 single base substitution G A missense_variant D184N 550G>A UCEC-US 4 129773322 129773322 single base substitution G A downstream_gene_variant UCEC-US 4 129773322 129773322 single base substitution G A missense_variant E187K 559G>A UCEC-US 4 129773322 129773322 single base substitution G A missense_variant E199K 595G>A UCEC-US 4 129783097 129783097 single base substitution G A missense_variant R395Q 1184G>A UCEC-US 4 129783097 129783097 single base substitution G A missense_variant R407Q 1220G>A UCEC-US 4 129783194 129783194 single base substitution T G synonymous_variant A427A 1281T>G UCEC-US 4 129783194 129783194 single base substitution T G synonymous_variant A439A 1317T>G UCEC-US 4 129789079 129789079 single base substitution A C downstream_gene_variant UCEC-US 4 129789079 129789079 single base substitution A C missense_variant E512D 1536A>C UCEC-US 4 129789079 129789079 single base substitution A C missense_variant E524D 1572A>C UCEC-US 4 129792810 129792810 single base substitution G A missense_variant R629H 1886G>A UCEC-US 4 129792810 129792810 single base substitution G A missense_variant R641H 1922G>A UCEC-US 4 129793186 129793186 single base substitution C T synonymous_variant H754H 2262C>T UCEC-US 4 129793186 129793186 single base substitution C T synonymous_variant H766H 2298C>T UCEC-US 4 129793345 129793345 single base substitution G T missense_variant K807N 2421G>T UCEC-US 4 129793345 129793345 single base substitution G T missense_variant K819N 2457G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 551 COSM5613051 c.132T>G p.P44P Substitution - coding silent 4:128843032-128843032 + CSCC-55-T COSM3600226 c.80C>T p.S27F Substitution - Missense 4:128842980-128842980 + TCGA-18-3410-01 COSM732615 c.146G>T p.R49M Substitution - Missense 4:128846382-128846382 + TCGA-BR-6566-01 COSM4122225 c.1404C>A p.T468T Substitution - coding silent 4:128862126-128862126 + TCGA-AR-A2LE-01 COSM3825181 c.86C>G p.S29C Substitution - Missense 4:128842986-128842986 + CHC884T COSM4958424 c.1033C>T p.R345W Substitution - Missense 4:128861755-128861755 + TCGA-AX-A0J0-01 COSM276726 c.2457G>T p.K819N Substitution - Missense 4:128872190-128872190 + YUPROST COSM1695008 c.1570G>A p.E524K Substitution - Missense 4:128867922-128867922 + ME018T COSM225202 c.418C>T p.R140C Substitution - Missense 4:128849101-128849101 + TCGA-B5-A11U-01 COSM1051184 c.2298C>T p.H766H Substitution - coding silent 4:128872031-128872031 + ESCC-D11 COSM5045264 c.2440A>T p.S814C Substitution - Missense 4:128872173-128872173 + TCGA-CG-5721-01 COSM4122223 c.1329T>C p.P443P Substitution - coding silent 4:128862051-128862051 + TCGA-C5-A1BQ-01 COSM4842038 c.711C>T p.I237I Substitution - coding silent 4:128855644-128855644 + YUWIA COSM5400476 c.1264C>G p.Q422E Substitution - Missense 4:128861986-128861986 + T3020 COSM4713957 c.959A>G p.E320G Substitution - Missense 4:128857432-128857432 + TCGA-D5-6928-01 COSM1427012 c.417T>C p.C139C Substitution - coding silent 4:128849100-128849100 + TCGA-F4-6461-01 COSM3696434 c.1177C>T p.P393S Substitution - Missense 4:128861899-128861899 + TCGA-D1-A16F-01 COSM1051180 c.1220G>A p.R407Q Substitution - Missense 4:128861942-128861942 + CSCC-11-T COSM4507267 c.741C>T p.C247C Substitution - coding silent 4:128855674-128855674 + TCGA-KR-A7K0-01 COSM4918157 c.2012G>C p.G671A Substitution - Missense 4:128871745-128871745 + CHC884T COSM4958424 c.1033C>T p.R345W Substitution - Missense 4:128861755-128861755 + 35 COSM4172356 c.1598T>G p.L533R Substitution - Missense 4:128867950-128867950 + TCGA-BR-8589-01 COSM4122215 c.179A>G p.D60G Substitution - Missense 4:128846415-128846415 + TCGA-A1-A0SH-01 COSM447363 c.1727C>G p.S576C Substitution - Missense 4:128871460-128871460 + TCGA-F5-6814-01 COSM3428161 c.604G>T p.E202* Substitution - Nonsense 4:128852176-128852176 + TCGA-AA-3510-01 COSM1427019 c.2299G>A p.D767N Substitution - Missense 4:128872032-128872032 + UM-SCC-2 COSM3010243 c.824C>A p.T275N Substitution - Missense 4:128855757-128855757 + LC_C9 COSM1186659 c.1624G>T p.V542L Substitution - Missense 4:128871357-128871357 + TCGA-F4-6570-01 COSM1427011 c.380_381delGC p.G127fs*9 Deletion - Frameshift 4:128849063-128849064 + 1N46-VS-1T46 COSM4976181 c.1721_1730del10 p.W574fs*15 Deletion - Frameshift 4:128871454-128871463 + T3202 COSM4713953 c.82C>T p.R28* Substitution - Nonsense 4:128842982-128842982 + TCGA-CD-A4MI-01 COSM4122217 c.542G>A p.R181Q Substitution - Missense 4:128852114-128852114 + SJHGG093_A COSM4971639 c.697G>T p.A233S Substitution - Missense 4:128855630-128855630 + 61 COSM5737099 c.1313G>T p.R438M Substitution - Missense 4:128862035-128862035 + HCC149 COSM3660880 c.516G>A p.E172E Substitution - coding silent 4:128852088-128852088 + TCGA-DK-A3IK-01 COSM1309738 c.958G>T p.E320* Substitution - Nonsense 4:128857431-128857431 + T2932 COSM1427014 c.1174_1175insC p.R394fs*11 Insertion - Frameshift 4:128861896-128861897 + HCT15 COSM1671328 c.524T>C p.L175P Substitution - Missense 4:128852096-128852096 + PET052T COSM5824941 c.891G>T p.M297I Substitution - Missense 4:128857364-128857364 + TCGA-D5-6928-01 COSM1427016 c.1320G>A p.L440L Substitution - coding silent 4:128862042-128862042 + B81-2-Tumor COSM1753539 c.1864G>A p.E622K Substitution - Missense 4:128871597-128871597 + YUKLAB COSM1695009 c.2135G>A p.G712D Substitution - Missense 4:128871868-128871868 + Au2 COSM5600200 c.984C>T p.C328C Substitution - coding silent 4:128861706-128861706 + TCGA-F4-6570-01 COSM1427010 c.124C>T p.R42* Substitution - Nonsense 4:128843024-128843024 + TCGA-AG-A025-01 COSM290390 c.1956G>A p.V652V Substitution - coding silent 4:128871689-128871689 + HCT8 COSM4635097 c.2160G>A p.K720K Substitution - coding silent 4:128871893-128871893 + TCGA-FS-A1Z3-06 COSM3600232 c.920C>T p.P307L Substitution - Missense 4:128857393-128857393 + TCGA-AZ-6598-01 COSM1427013 c.785C>T p.P262L Substitution - Missense 4:128855718-128855718 + TCGA-FS-A4F0-06 COSM3600234 c.1065G>A p.E355E Substitution - coding silent 4:128861787-128861787 + TCGA-06-0185 COSM2150552 c.448T>A p.W150R Substitution - Missense 4:128849131-128849131 + 8033691 COSM3392697 c.1466T>G p.L489R Substitution - Missense 4:128862188-128862188 + TCGA-FU-A3NI-01 COSM4849291 c.1083C>T p.F361F Substitution - coding silent 4:128861805-128861805 + SNU-C4 COSM1427015 c.1175delC p.R394fs*20 Deletion - Frameshift 4:128861897-128861897 + TCGA-HU-A4G9-01 COSM4122219 c.625T>C p.C209R Substitution - Missense 4:128852197-128852197 + cSCCP1 COSM143420 c.1160_1161GG>AA p.G387E Substitution - Missense 4:128861882-128861883 + TCGA-EB-A5UN-06 COSM3600226 c.80C>T p.S27F Substitution - Missense 4:128842980-128842980 + TCGA-CM-6171-01 COSM1427015 c.1175delC p.R394fs*20 Deletion - Frameshift 4:128861897-128861897 + SW837 COSM1427017 c.1438C>T p.R480W Substitution - Missense 4:128862160-128862160 + ESCC_117 COSM5640077 c.2464A>G p.I822V Substitution - Missense 4:128872197-128872197 + TCGA-AA-A00N-01 COSM276726 c.2457G>T p.K819N Substitution - Missense 4:128872190-128872190 + TCGA-BG-A0M4-01 COSM1051181 c.1317T>G p.A439A Substitution - coding silent 4:128862039-128862039 + TCGA-AX-A0J1-01 COSM1051183 c.1922G>A p.R641H Substitution - Missense 4:128871655-128871655 + TCGA-CG-4306-01 COSM4122221 c.838G>A p.V280I Substitution - Missense 4:128855771-128855771 + 3N64-VS-3T64 COSM4984736 c.697-1G>A p.? Unknown 4:128855629-128855629 + 2492700 COSM5600200 c.984C>T p.C328C Substitution - coding silent 4:128861706-128861706 + TCGA-G2-A2EL-01 COSM1309737 c.956A>G p.N319S Substitution - Missense 4:128857429-128857429 + TCGA-AA-3492-01 COSM1427014 c.1174_1175insC p.R394fs*11 Insertion - Frameshift 4:128861896-128861897 + C135 COSM1427015 c.1175delC p.R394fs*20 Deletion - Frameshift 4:128861897-128861897 + TCGA-AX-A060-01 COSM1051176 c.206A>C p.Y69S Substitution - Missense 4:128846442-128846442 + TCGA-06-0184-01 COSM3409052 c.381C>G p.G127G Substitution - coding silent 4:128849064-128849064 + CHC1602T COSM4789139 c.2196G>C p.Q732H Substitution - Missense 4:128871929-128871929 + T55 COSM3010212 c.50G>A p.G17D Substitution - Missense 4:128831808-128831808 + A9 COSM5351048 c.1531C>T p.R511C Substitution - Missense 4:128867883-128867883 + Gp5D COSM3010276 c.1642T>C p.S548P Substitution - Missense 4:128871375-128871375 + TCGA-EE-A3AG-06 COSM3600238 c.1401C>T p.I467I Substitution - coding silent 4:128862123-128862123 + H1703 COSM1196588 c.41A>G p.D14G Substitution - Missense 4:128831799-128831799 + TCGA-A2-A0T5-01 COSM3825187 c.1238T>G p.V413G Substitution - Missense 4:128861960-128861960 + TCGA-B5-A11E-01 COSM1051182 c.1572A>C p.E524D Substitution - Missense 4:128867924-128867924 + pfg016T COSM1642409 c.1622G>A p.G541D Substitution - Missense 4:128871355-128871355 + TCGA-B5-A11E-01 COSM1051178 c.550G>A p.D184N Substitution - Missense 4:128852122-128852122 + ESCC_103 COSM5638262 c.1638C>G p.C546W Substitution - Missense 4:128871371-128871371 + Gp2D COSM3010276 c.1642T>C p.S548P Substitution - Missense 4:128871375-128871375 + KM12 COSM3010245 c.942G>A p.V314V Substitution - coding silent 4:128857415-128857415 + 2492703 COSM5600200 c.984C>T p.C328C Substitution - coding silent 4:128861706-128861706 + KPOPBR-34-T COSM5963308 c.534T>C p.F178F Substitution - coding silent 4:128852106-128852106 + 1N30-VS-1T30 COSM4974119 c.729C>T p.G243G Substitution - coding silent 4:128855662-128855662 + HCT-15 COSM1671328 c.524T>C p.L175P Substitution - Missense 4:128852096-128852096 + CRC-16T COSM5453017 c.1008C>T p.A336A Substitution - coding silent 4:128861730-128861730 + TCGA-EE-A2GJ-06 COSM3600228 c.81C>T p.S27S Substitution - coding silent 4:128842981-128842981 + TCGA-EE-A29N-06 COSM3600236 c.1176C>T p.S392S Substitution - coding silent 4:128861898-128861898 + TCGA-EE-A29E-06 COSM3600240 c.1781C>T p.P594L Substitution - Missense 4:128871514-128871514 + SA224 COSM212551 c.1444C>G p.Q482E Substitution - Missense 4:128862166-128862166 + ESCC-F84 COSM3010223 c.260C>A p.P87H Substitution - Missense 4:128846496-128846496 + C658 COSM4443475 c.815G>A p.R272H Substitution - Missense 4:128855748-128855748 + HCC149T COSM3660880 c.516G>A p.E172E Substitution - coding silent 4:128852088-128852088 + CHOL52 COSM1744082 c.1688G>A p.G563D Substitution - Missense 4:128871421-128871421 + TCGA-DU-A5TU-01 COSM3974723 c.1038C>T p.G346G Substitution - coding silent 4:128861760-128861760 + TCGA-AP-A056-01 COSM1051179 c.595G>A p.E199K Substitution - Missense 4:128852167-128852167 + RK223_C01 COSM4779230 c.808C>A p.P270T Substitution - Missense 4:128855741-128855741 + TCGA-F4-6856-01 COSM1427018 c.2276G>A p.R759Q Substitution - Missense 4:128872009-128872009 + TCGA-AA-3982-01 COSM297829 c.936G>A p.A312A Substitution - coding silent 4:128857409-128857409 + T3064 COSM4713960 c.1950T>C p.G650G Substitution - coding silent 4:128871683-128871683 + KYSE70 COSM5049700 c.2192A>G p.N731S Substitution - Missense 4:128871925-128871925 + TCGA-JW-A5VL-01 COSM4847658 c.493G>A p.E165K Substitution - Missense 4:128852065-128852065 + T2269 COSM4713955 c.148A>T p.T50S Substitution - Missense 4:128846384-128846384 + STC252 COSM5060119 c.412G>A p.V138M Substitution - Missense 4:128849095-128849095 + SNU-175 COSM3010280 c.1924C>T p.L642F Substitution - Missense 4:128871657-128871657 + TCGA-DU-A5TW-01 COSM3974725 c.1867G>A p.G623R Substitution - Missense 4:128871600-128871600 + TCGA-EK-A2PI-01 COSM4831148 c.2142G>T p.R714S Substitution - Missense 4:128871875-128871875 + LP2000331-DNA_A01 COSM5952547 c.1427A>G p.N476S Substitution - Missense 4:128862149-128862149 + CHC1602T COSM4789139 c.2196G>C p.Q732H Substitution - Missense 4:128871929-128871929 + TCGA-06-0185-01 COSM2150552 c.448T>A p.W150R Substitution - Missense 4:128849131-128849131 + B81-2 COSM1753539 c.1864G>A p.E622K Substitution - Missense 4:128871597-128871597 + ESCC-148T COSM3940734 c.1396C>T p.L466L Substitution - coding silent 4:128862118-128862118 + LC_S15 COSM1186658 c.496C>G p.L166V Substitution - Missense 4:128852068-128852068 + HN_62237 COSM125336 c.544T>C p.C182R Substitution - Missense 4:128852116-128852116 + CSCC-27-T COSM4505109 c.684C>T p.I228I Substitution - coding silent 4:128852256-128852256 + WA54 COSM236824 c.894G>T p.E298D Substitution - Missense 4:128857367-128857367 + LUAD-NYU802 COSM376404 c.1722G>A p.W574* Substitution - Nonsense 4:128871455-128871455 + TCGA-A6-5661-01 COSM1427017 c.1438C>T p.R480W Substitution - Missense 4:128862160-128862160 + SNU-C1 COSM3010237 c.447A>G p.A149A Substitution - coding silent 4:128849130-128849130 + 53M COSM5595105 c.1219C>T p.R407W Substitution - Missense 4:128861941-128861941 + LUAD-RT-S01831 COSM384452 c.1178C>T p.P393L Substitution - Missense 4:128861900-128861900 + HCC59 COSM3660882 c.1622-3T>G p.? Unknown 4:128871352-128871352 + ESCC_127 COSM5641542 c.1247G>A p.R416H Substitution - Missense 4:128861969-128861969 + TCGA-CJ-4916-01 COSM480854 c.1558T>A p.C520S Substitution - Missense 4:128867910-128867910 + Pat_40_B COSM5865734 c.671A>G p.D224G Substitution - Missense 4:128852243-128852243 + 8035591 COSM3392695 c.1321C>T p.R441W Substitution - Missense 4:128862043-128862043 + HCC59T COSM3660882 c.1622-3T>G p.? Unknown 4:128871352-128871352 + C91 COSM4444950 c.2414C>A p.P805H Substitution - Missense 4:128872147-128872147 + TCGA-EE-A20C-06 COSM3600230 c.88C>T p.Q30* Substitution - Nonsense 4:128842988-128842988 + TCGA-AA-3667-01 COSM265913 c.1560C>G p.C520W Substitution - Missense 4:128867912-128867912 + TCGA-34-5231-01 COSM732613 c.863A>C p.E288A Substitution - Missense 4:128855796-128855796 + ESCC_42 COSM5629745 c.704_705insT p.G236fs*38 Insertion - Frameshift 4:128855637-128855638 + 2492702 COSM5600200 c.984C>T p.C328C Substitution - coding silent 4:128861706-128861706 + TCGA-D3-A51R-06 COSM3600226 c.80C>T p.S27F Substitution - Missense 4:128842980-128842980 + 61 COSM5737097 c.1187C>T p.P396L Substitution - Missense 4:128861909-128861909 + CSCC-44-T COSM4501354 c.586C>T p.L196L Substitution - coding silent 4:128852158-128852158 + TCGA-AN-A046-01 COSM3825183 c.128A>C p.K43T Substitution - Missense 4:128843028-128843028 + Pat_32_B COSM4122217 c.542G>A p.R181Q Substitution - Missense 4:128852114-128852114 + TCGA-AK-3455-01 COSM480853 c.1046T>G p.M349R Substitution - Missense 4:128861768-128861768 + TCGA-B5-A11E-01 COSM1051177 c.456A>G p.E152E Substitution - coding silent 4:128849139-128849139 + TCGA-C8-A12P-01 COSM447362 c.307G>A p.E103K Substitution - Missense 4:128848990-128848990 + 2492701 COSM5600200 c.984C>T p.C328C Substitution - coding silent 4:128861706-128861706 + B105-0-Tumor COSM4005678 c.596A>C p.E199A Substitution - Missense 4:128852168-128852168 + ESO-155 COSM1262041 c.1009T>C p.F337L Substitution - Missense 4:128861731-128861731 + TCGA-D9-A6EA-06 COSM4398012 c.1012C>T p.H338Y Substitution - Missense 4:128861734-128861734 + U2940 COSM5621504 c.691C>T p.H231Y Substitution - Missense 4:128852263-128852263 + TCGA-A2-A0T5-01 COSM3825185 c.795T>G p.G265G Substitution - coding silent 4:128855728-128855728 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.12420 4q26-q27 610514

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E288A c.863A>C 4 129776951 LUSC A C Missense p.K736N c.2208A>C 4 129793096 LUAD A C Missense p.Y69S c.206A>C 4 129767597 UCEC A G IntronicSNV . c.1503+17A>G 4 129783397 HC A G IntronicSNV . c.982-755A>G 4 129782104 CLL A G Missense p.K593R c.1778A>G 4 129792666 LUAD A G Missense p.N319S c.956A>G 4 129778584 BLCA A G Missense p.Q525R c.1574A>G 4 129789081 LUAD A T Missense p.N155I c.464A>T 4 129770302 CM C A Missense p.S137R c.411C>A 4 129770249 COREAD C G Missense p.C520W c.1560C>G 4 129789067 COREAD C G Missense p.L477V c.1429C>G 4 129783306 LUAD C G Missense p.Q482E c.1444C>G 4 129783321 BRCA C G Missense p.S576C c.1727C>G 4 129792615 BRCA C G Synonymous p.G127G c.381C>G 4 129770219 GBM C T IntronicSNV . c.1-21572C>T 4 129731342 CLL C T Missense p.P307L c.920C>T 4 129778548 CM C T Missense p.R140C c.418C>T 4 129770256 CM C T Missense p.R641C c.1921C>T 4 129792809 HNSC C T Missense p.R759W c.2275C>T 4 129793163 LUAD C T Nonsense p.Q30* c.88C>T 4 129764143 CM C T Synonymous p.H766H c.2298C>T 4 129793186 UCEC C T Synonymous p.I467I c.1401C>T 4 129783278 CM C T Synonymous p.I53I c.159C>T 4 129767550 LUAD C T Synonymous p.L107L c.321C>T 4 129770159 HNSC C T Synonymous p.L284L c.850C>T 4 129776938 HNSC C T Synonymous p.S27S c.81C>T 4 129764136 CM C T Synonymous p.S392S c.1176C>T 4 129783053 CM C T Synonymous p.S687S c.2061C>T 4 129792949 MM G A 5-UTRSNV . c.1-7G>A 4 129752907 CM G A Missense p.E103K c.307G>A 4 129770145 BRCA G A Missense p.E375K c.1123G>A 4 129783000 LUAD G A Missense p.G541D c.1622G>A 4 129792510 STAD G A Missense p.R407Q c.1220G>A 4 129783097 UCEC G A Missense p.R412Q c.1235G>A 4 129783112 STAD G A Missense p.V280I c.838G>A 4 129776926 STAD G A Synonymous p.A312A c.936G>A 4 129778564 COREAD G A Synonymous p.V652V c.1956G>A 4 129792844 COREAD G T Missense p.G265C c.793G>T 4 129776881 COREAD G T Missense p.G802W c.2404G>T 4 129793292 STAD G T Missense p.R49M c.146G>T 4 129767537 LUSC G T Nonsense p.E320* c.958G>T 4 129778586 BLCA T A Missense p.C520S c.1558T>A 4 129789065 RCCC T A Missense p.W150R c.448T>A 4 129770286 GBM T C Missense p.C182R c.544T>C 4 129773271 HNSC T C Missense p.F337L c.1009T>C 4 129782886 ESCA T C Missense p.S547P c.1639T>C 4 129792527 LUAD T G Missense p.M349R c.1046T>G 4 129782923 RCCC T G Synonymous p.A439A c.1317T>G 4 129783194 UCEC T G Synonymous p.T531T c.1593T>G 4 129789100 LUAD