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 8 26217721 26217721 + Missense_Mutation SNP A A T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 g.chr8:26217721A>T c.383A>T c.(382-384)gAc>gTc p.D128V BLCA 8 26218598 26218598 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 g.chr8:26218598G>A c.568G>A c.(568-570)Gaa>Aaa p.E190K BLCA 8 26221294 26221294 + Missense_Mutation SNP C C G TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr8:26221294C>G c.860C>G c.(859-861)tCt>tGt p.S287C BLCA 8 26227900 26227900 + Silent SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 g.chr8:26227900C>T c.1315C>T c.(1315-1317)Ctg>Ttg p.L439L BRCA 8 26227655 26227655 + Missense_Mutation SNP T T A TCGA-BH-A1FG-01A-11D-A13L-09 TCGA-BH-A1FG-11B-12D-A13O-09 g.chr8:26227655T>A c.1070T>A c.(1069-1071)gTc>gAc p.V357D CESC 8 26217696 26217696 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr8:26217696A>C c.358A>C c.(358-360)Aaa>Caa p.K120Q CESC 8 26217714 26217714 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr8:26217714G>A c.376G>A c.(376-378)Gaa>Aaa p.E126K CESC 8 26227787 26227787 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr8:26227787G>A c.1202G>A c.(1201-1203)gGc>gAc p.G401D COAD 8 26196444 26196444 + Nonsense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr8:26196444G>T c.121G>T c.(121-123)Gaa>Taa p.E41* COAD 8 26212049 26212049 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:26212049A>G c.246A>G c.(244-246)ccA>ccG p.P82P COAD 8 26212115 26212116 + Frame_Shift_Ins INS - - A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr8:26212115_26212116insA c.312_313insA c.(313-315)aaafs p.K105fs COAD 8 26217719 26217719 + Silent SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr8:26217719G>A c.381G>A c.(379-381)agG>agA p.R127R COAD 8 26218603 26218603 + Silent SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:26218603A>C c.573A>C c.(571-573)acA>acC p.T191T COAD 8 26220315 26220315 + Silent SNP T T A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr8:26220315T>A c.753T>A c.(751-753)atT>atA p.I251I COAD 8 26220346 26220346 + Missense_Mutation SNP T T G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr8:26220346T>G c.784T>G c.(784-786)Tgt>Ggt p.C262G COAD 8 26221272 26221272 + Frame_Shift_Del DEL T T - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr8:26221272delT c.838delT c.(838-840)tttfs p.F281fs COAD 8 26221272 26221272 + Frame_Shift_Del DEL T T - TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr8:26221272delT c.838delT c.(838-840)tttfs p.F281fs COAD 8 26223885 26223885 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:26223885T>G c.1027T>G c.(1027-1029)Ttt>Gtt p.F343V COAD 8 26227751 26227751 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr8:26227751G>A c.1166G>A c.(1165-1167)cGc>cAc p.R389H COAD 8 26227835 26227835 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:26227835A>C c.1250A>C c.(1249-1251)aAg>aCg p.K417T COADREAD 8 26196444 26196444 + Nonsense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr8:26196444G>T c.121G>T c.(121-123)Gaa>Taa p.E41* COADREAD 8 26212049 26212049 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:26212049A>G c.246A>G c.(244-246)ccA>ccG p.P82P COADREAD 8 26212115 26212116 + Frame_Shift_Ins INS - - A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr8:26212115_26212116insA c.312_313insA c.(313-315)aaafs p.K105fs COADREAD 8 26217719 26217719 + Silent SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr8:26217719G>A c.381G>A c.(379-381)agG>agA p.R127R COADREAD 8 26218603 26218603 + Silent SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:26218603A>C c.573A>C c.(571-573)acA>acC p.T191T COADREAD 8 26220315 26220315 + Silent SNP T T A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr8:26220315T>A c.753T>A c.(751-753)atT>atA p.I251I COADREAD 8 26220346 26220346 + Missense_Mutation SNP T T G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr8:26220346T>G c.784T>G c.(784-786)Tgt>Ggt p.C262G COADREAD 8 26221272 26221272 + Frame_Shift_Del DEL T T - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr8:26221272delT c.838delT c.(838-840)tttfs p.F281fs COADREAD 8 26221272 26221272 + Frame_Shift_Del DEL T T - TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr8:26221272delT c.838delT c.(838-840)tttfs p.F281fs COADREAD 8 26223885 26223885 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:26223885T>G c.1027T>G c.(1027-1029)Ttt>Gtt p.F343V COADREAD 8 26227731 26227731 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:26227731G>A c.1146G>A c.(1144-1146)tcG>tcA p.S382S COADREAD 8 26227751 26227751 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr8:26227751G>A c.1166G>A c.(1165-1167)cGc>cAc p.R389H COADREAD 8 26227835 26227835 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:26227835A>C c.1250A>C c.(1249-1251)aAg>aCg p.K417T ESCA 8 26220325 26220325 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr8:26220325G>A c.763G>A c.(763-765)Gac>Aac p.D255N GBMLGG 8 26196411 26196411 + Missense_Mutation SNP A A G TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 g.chr8:26196411A>G c.88A>G c.(88-90)Ata>Gta p.I30V GBMLGG 8 26217769 26217769 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:26217769G>T c.431G>T c.(430-432)aGa>aTa p.R144I GBMLGG 8 26221333 26221333 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:26221333T>C c.899T>C c.(898-900)aTg>aCg p.M300T GBMLGG 8 26227731 26227731 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:26227731G>A c.1146G>A c.(1144-1146)tcG>tcA p.S382S GBMLGG 8 26227744 26227761 + In_Frame_Del DEL AAGCCTCGCACAGTTCTG AAGCCTCGCACAGTTCTG - TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 g.chr8:26227744_26227761delAAGCCTCGCACAGTTCTG c.1159_1176delAAGCCTCGCACAGTTCTG c.(1159-1176)aagcctcgcacagttctgdel p.KPRTVL387del HNSC 8 26220330 26220330 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:26220330G>A c.768G>A c.(766-768)atG>atA p.M256I HNSC 8 26227699 26227699 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:26227699A>G c.1114A>G c.(1114-1116)Aac>Gac p.N372D KICH 8 26196504 26196504 + Splice_Site SNP G G T TCGA-KL-8342-01A-11D-2310-10 TCGA-KL-8342-11A-01D-2310-10 g.chr8:26196504G>T c.e3+1 KIPAN 8 26196504 26196504 + Splice_Site SNP G G T TCGA-KL-8342-01A-11D-2310-10 TCGA-KL-8342-11A-01D-2310-10 g.chr8:26196504G>T c.e3+1 KIPAN 8 26211991 26211991 + Missense_Mutation SNP T T C TCGA-HE-A5NH-01A-11D-A26P-10 TCGA-HE-A5NH-10A-01D-A26P-10 g.chr8:26211991T>C c.188T>C c.(187-189)aTc>aCc p.I63T KIPAN 8 26217736 26217736 + Missense_Mutation SNP G G T TCGA-CJ-6030-01A-11D-1669-08 TCGA-CJ-6030-11A-01D-1669-08 g.chr8:26217736G>T c.398G>T c.(397-399)gGg>gTg p.G133V KIPAN 8 26220333 26220333 + Silent SNP G G A TCGA-IA-A83W-01A-11D-A34Z-10 TCGA-IA-A83W-11A-11D-A34Z-10 g.chr8:26220333G>A c.771G>A c.(769-771)agG>agA p.R257R KIPAN 8 26227846 26227849 + Frame_Shift_Del DEL CACA CACA - TCGA-BQ-7044-01A-11D-1961-08 TCGA-BQ-7044-11A-01D-1961-08 g.chr8:26227846_26227849delCACA c.1261_1264delCACA c.(1261-1266)cacacafs p.HT421fs KIRC 8 26217736 26217736 + Missense_Mutation SNP G G T TCGA-CJ-6030-01A-11D-1669-08 TCGA-CJ-6030-11A-01D-1669-08 g.chr8:26217736G>T c.398G>T c.(397-399)gGg>gTg p.G133V KIRP 8 26211991 26211991 + Missense_Mutation SNP T T C TCGA-HE-A5NH-01A-11D-A26P-10 TCGA-HE-A5NH-10A-01D-A26P-10 g.chr8:26211991T>C c.188T>C c.(187-189)aTc>aCc p.I63T KIRP 8 26220333 26220333 + Silent SNP G G A TCGA-IA-A83W-01A-11D-A34Z-10 TCGA-IA-A83W-11A-11D-A34Z-10 g.chr8:26220333G>A c.771G>A c.(769-771)agG>agA p.R257R KIRP 8 26227846 26227849 + Frame_Shift_Del DEL CACA CACA - TCGA-BQ-7044-01A-11D-1961-08 TCGA-BQ-7044-11A-01D-1961-08 g.chr8:26227846_26227849delCACA c.1261_1264delCACA c.(1261-1266)cacacafs p.HT421fs LGG 8 26196411 26196411 + Missense_Mutation SNP A A G TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 g.chr8:26196411A>G c.88A>G c.(88-90)Ata>Gta p.I30V LGG 8 26217769 26217769 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:26217769G>T c.431G>T c.(430-432)aGa>aTa p.R144I LGG 8 26221333 26221333 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:26221333T>C c.899T>C c.(898-900)aTg>aCg p.M300T LGG 8 26227731 26227731 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:26227731G>A c.1146G>A c.(1144-1146)tcG>tcA p.S382S LGG 8 26227744 26227761 + In_Frame_Del DEL AAGCCTCGCACAGTTCTG AAGCCTCGCACAGTTCTG - TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 g.chr8:26227744_26227761delAAGCCTCGCACAGTTCTG c.1159_1176delAAGCCTCGCACAGTTCTG c.(1159-1176)aagcctcgcacagttctgdel p.KPRTVL387del LIHC 8 26211994 26211994 + Missense_Mutation SNP A A G TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr8:26211994A>G c.191A>G c.(190-192)cAg>cGg p.Q64R LIHC 8 26220351 26220351 + Silent SNP T T C TCGA-G3-AAV4-01A-11D-A382-10 TCGA-G3-AAV4-10A-01D-A385-10 g.chr8:26220351T>C c.789T>C c.(787-789)gaT>gaC p.D263D LIHC 8 26223877 26223877 + Missense_Mutation SNP A A G TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr8:26223877A>G c.1019A>G c.(1018-1020)gAc>gGc p.D340G LIHC 8 26227714 26227714 + Missense_Mutation SNP A A G TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr8:26227714A>G c.1129A>G c.(1129-1131)Ata>Gta p.I377V LUAD 8 26212038 26212038 + Missense_Mutation SNP A A G TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr8:26212038A>G c.235A>G c.(235-237)Agc>Ggc p.S79G LUAD 8 26212050 26212050 + Nonsense_Mutation SNP G G T TCGA-44-A47A-01A-21D-A24D-08 TCGA-44-A47A-10A-01D-A24F-08 g.chr8:26212050G>T c.247G>T c.(247-249)Gag>Tag p.E83* LUAD 8 26212074 26212074 + Nonsense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr8:26212074G>T c.271G>T c.(271-273)Gaa>Taa p.E91* LUAD 8 26217798 26217798 + Splice_Site SNP G G A TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr8:26217798G>A c.e5+1 LUAD 8 26218501 26218502 + Frame_Shift_Ins INS - - A TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chr8:26218501_26218502insA c.471_472insA c.(472-474)aggfs p.R158fs LUAD 8 26227802 26227802 + Missense_Mutation SNP A A T TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr8:26227802A>T c.1217A>T c.(1216-1218)gAt>gTt p.D406V LUSC 8 26218532 26218532 + Missense_Mutation SNP C C T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr8:26218532C>T c.502C>T c.(502-504)Cca>Tca p.P168S OV 8 26212032 26212032 + Missense_Mutation SNP T T C TCGA-04-1649-01A-01W-0639-09 TCGA-04-1649-11A-01W-0639-09 g.chr8:26212032T>C c.229T>C c.(229-231)Ttc>Ctc p.F77L OV 8 26227853 26227853 + Missense_Mutation SNP C C T TCGA-24-1552-01A-01W-0551-08 TCGA-24-1552-10A-01W-0551-08 g.chr8:26227853C>T c.1268C>T c.(1267-1269)gCc>gTc p.A423V PAAD 8 26151208 26151208 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:26151208T>C c.34T>C c.(34-36)Tgg>Cgg p.W12R PAAD 8 26227791 26227791 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:26227791G>T c.1206G>T c.(1204-1206)aaG>aaT p.K402N PRAD 8 26212039 26212039 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr8:26212039G>A c.236G>A c.(235-237)aGc>aAc p.S79N PRAD 8 26227725 26227725 + Silent SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr8:26227725A>G c.1140A>G c.(1138-1140)gaA>gaG p.E380E READ 8 26227731 26227731 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:26227731G>A c.1146G>A c.(1144-1146)tcG>tcA p.S382S SARC 8 26218555 26218555 + Silent SNP T T G TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 g.chr8:26218555T>G c.525T>G c.(523-525)gcT>gcG p.A175A SARC 8 26227825 26227825 + Missense_Mutation SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 g.chr8:26227825G>C c.1240G>C c.(1240-1242)Gac>Cac p.D414H SKCM 8 26196487 26196487 + Missense_Mutation SNP T T C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr8:26196487T>C c.164T>C c.(163-165)tTt>tCt p.F55S SKCM 8 26212087 26212087 + Missense_Mutation SNP A A T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr8:26212087A>T c.284A>T c.(283-285)aAg>aTg p.K95M SKCM 8 26218498 26218498 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr8:26218498C>T c.468C>T c.(466-468)gtC>gtT p.V156V SKCM 8 26221279 26221279 + Missense_Mutation SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr8:26221279C>T c.845C>T c.(844-846)tCc>tTc p.S282F SKCM 8 26221326 26221326 + Nonsense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr8:26221326C>T c.892C>T c.(892-894)Cga>Tga p.R298* SKCM 8 26223885 26223885 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr8:26223885T>G c.1027T>G c.(1027-1029)Ttt>Gtt p.F343V

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 8 26149327 26149327 single base substitution C T 5_prime_UTR_variant BLCA-CN 8 26149327 26149327 single base substitution C T intron_variant BLCA-CN 8 26149327 26149327 single base substitution C T upstream_gene_variant BLCA-CN 8 26227875 26227875 single base substitution C T downstream_gene_variant BLCA-CN 8 26227875 26227875 single base substitution C T exon_variant BLCA-CN 8 26227875 26227875 single base substitution C T synonymous_variant I430I 1290C>T BLCA-CN 8 26227875 26227875 single base substitution C T synonymous_variant I440I 1320C>T BLCA-US 8 26227900 26227900 single base substitution C T downstream_gene_variant BLCA-US 8 26227900 26227900 single base substitution C T exon_variant BLCA-US 8 26227900 26227900 single base substitution C T synonymous_variant L439L 1315C>T BLCA-US 8 26227900 26227900 single base substitution C T synonymous_variant L449L 1345C>T BRCA-EU 8 26145569 26145569 single base substitution C T upstream_gene_variant BRCA-EU 8 26146049 26146049 single base substitution G C upstream_gene_variant BRCA-EU 8 26146172 26146172 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 26146369 26146369 single base substitution C A upstream_gene_variant BRCA-EU 8 26146479 26146479 insertion of <=200bp - T upstream_gene_variant BRCA-EU 8 26148113 26148113 single base substitution C T upstream_gene_variant BRCA-EU 8 26149734 26149734 single base substitution T A exon_variant BRCA-EU 8 26149734 26149734 single base substitution T A intron_variant BRCA-EU 8 26149734 26149734 single base substitution T A upstream_gene_variant BRCA-EU 8 26149735 26149735 single base substitution C G exon_variant BRCA-EU 8 26149735 26149735 single base substitution C G intron_variant BRCA-EU 8 26149735 26149735 single base substitution C G upstream_gene_variant BRCA-EU 8 26151199 26151199 single base substitution G A 5_prime_UTR_variant BRCA-EU 8 26151199 26151199 single base substitution G A exon_variant BRCA-EU 8 26151199 26151199 single base substitution G A intron_variant BRCA-EU 8 26151199 26151199 single base substitution G A missense_variant D19N 55G>A BRCA-EU 8 26151199 26151199 single base substitution G A missense_variant D9N 25G>A BRCA-EU 8 26151199 26151199 single base substitution G A upstream_gene_variant BRCA-EU 8 26152278 26152278 single base substitution T C intron_variant BRCA-EU 8 26152278 26152278 single base substitution T C upstream_gene_variant BRCA-EU 8 26152830 26152830 single base substitution G A intron_variant BRCA-EU 8 26152830 26152830 single base substitution G A upstream_gene_variant BRCA-EU 8 26153952 26153952 single base substitution T C intron_variant BRCA-EU 8 26153952 26153952 single base substitution T C upstream_gene_variant BRCA-EU 8 26155026 26155026 single base substitution T G intron_variant BRCA-EU 8 26155026 26155026 single base substitution T G upstream_gene_variant BRCA-EU 8 26156121 26156121 single base substitution C T exon_variant BRCA-EU 8 26156121 26156121 single base substitution C T intron_variant BRCA-EU 8 26158846 26158846 insertion of <=200bp - T intron_variant BRCA-EU 8 26159002 26159002 single base substitution C G intron_variant BRCA-EU 8 26159025 26159025 single base substitution A T intron_variant BRCA-EU 8 26162339 26162339 single base substitution C T intron_variant BRCA-EU 8 26165710 26165710 single base substitution C T intron_variant BRCA-EU 8 26165944 26165944 single base substitution C A intron_variant BRCA-EU 8 26168417 26168417 single base substitution T A intron_variant BRCA-EU 8 26169296 26169296 single base substitution C T intron_variant BRCA-EU 8 26170227 26170227 single base substitution T C intron_variant BRCA-EU 8 26170840 26170840 single base substitution C T intron_variant BRCA-EU 8 26172320 26172320 insertion of <=200bp - T intron_variant BRCA-EU 8 26173581 26173581 insertion of <=200bp - TGCGACCTCGGCTCAC intron_variant BRCA-EU 8 26173589 26173589 single base substitution C A intron_variant BRCA-EU 8 26174028 26174028 insertion of <=200bp - T intron_variant BRCA-EU 8 26177146 26177146 single base substitution C G intron_variant BRCA-EU 8 26178265 26178265 insertion of <=200bp - T intron_variant BRCA-EU 8 26178691 26178694 deletion of <=200bp AGTA - intron_variant BRCA-EU 8 26181317 26181318 deletion of <=200bp AA - intron_variant BRCA-EU 8 26181321 26181321 single base substitution C T intron_variant BRCA-EU 8 26182309 26182309 single base substitution G T intron_variant BRCA-EU 8 26182607 26182607 single base substitution G A intron_variant BRCA-EU 8 26182871 26182871 single base substitution C G intron_variant BRCA-EU 8 26183362 26183362 single base substitution T C intron_variant BRCA-EU 8 26183801 26183801 single base substitution C T intron_variant BRCA-EU 8 26184146 26184146 deletion of <=200bp A - intron_variant BRCA-EU 8 26187482 26187482 single base substitution T C intron_variant BRCA-EU 8 26187751 26187753 deletion of <=200bp TTT - intron_variant BRCA-EU 8 26187754 26187754 single base substitution T C intron_variant BRCA-EU 8 26188522 26188522 single base substitution C T intron_variant BRCA-EU 8 26190639 26190639 single base substitution G A intron_variant BRCA-EU 8 26192028 26192028 single base substitution G A intron_variant BRCA-EU 8 26192410 26192410 single base substitution C T intron_variant BRCA-EU 8 26193485 26193485 single base substitution C A intron_variant BRCA-EU 8 26193485 26193485 single base substitution C A upstream_gene_variant BRCA-EU 8 26195734 26195734 deletion of <=200bp A - intron_variant BRCA-EU 8 26195734 26195734 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 26196351 26196351 single base substitution A G intron_variant BRCA-EU 8 26196351 26196351 single base substitution A G upstream_gene_variant BRCA-EU 8 26198377 26198377 single base substitution A G downstream_gene_variant BRCA-EU 8 26198377 26198377 single base substitution A G intron_variant BRCA-EU 8 26199023 26199023 single base substitution G T downstream_gene_variant BRCA-EU 8 26199023 26199023 single base substitution G T intron_variant BRCA-EU 8 26199961 26199961 single base substitution G T downstream_gene_variant BRCA-EU 8 26199961 26199961 single base substitution G T intron_variant BRCA-EU 8 26201662 26201662 single base substitution T C downstream_gene_variant BRCA-EU 8 26201662 26201662 single base substitution T C intron_variant BRCA-EU 8 26202686 26202686 single base substitution C A intron_variant BRCA-EU 8 26203239 26203239 single base substitution C G intron_variant BRCA-EU 8 26203356 26203356 single base substitution C G intron_variant BRCA-EU 8 26204594 26204594 single base substitution T G intron_variant BRCA-EU 8 26207199 26207199 single base substitution G C intron_variant BRCA-EU 8 26207199 26207199 single base substitution G C upstream_gene_variant BRCA-EU 8 26213554 26213554 single base substitution T C downstream_gene_variant BRCA-EU 8 26213554 26213554 single base substitution T C intron_variant BRCA-EU 8 26213554 26213554 single base substitution T C upstream_gene_variant BRCA-EU 8 26216246 26216246 single base substitution G A downstream_gene_variant BRCA-EU 8 26216246 26216246 single base substitution G A intron_variant BRCA-EU 8 26216246 26216246 single base substitution G A upstream_gene_variant BRCA-EU 8 26216392 26216392 single base substitution A G downstream_gene_variant BRCA-EU 8 26216392 26216392 single base substitution A G intron_variant BRCA-EU 8 26216392 26216392 single base substitution A G upstream_gene_variant BRCA-EU 8 26217593 26217593 single base substitution T C intron_variant BRCA-EU 8 26217593 26217593 single base substitution T C upstream_gene_variant BRCA-EU 8 26219073 26219073 single base substitution G A downstream_gene_variant BRCA-EU 8 26219073 26219073 single base substitution G A intron_variant BRCA-EU 8 26219073 26219073 single base substitution G A upstream_gene_variant BRCA-EU 8 26219129 26219129 single base substitution A T downstream_gene_variant BRCA-EU 8 26219129 26219129 single base substitution A T intron_variant BRCA-EU 8 26219129 26219129 single base substitution A T upstream_gene_variant BRCA-EU 8 26219628 26219628 single base substitution G A downstream_gene_variant BRCA-EU 8 26219628 26219628 single base substitution G A intron_variant BRCA-EU 8 26219628 26219628 single base substitution G A upstream_gene_variant BRCA-EU 8 26220352 26220352 insertion of <=200bp - A downstream_gene_variant BRCA-EU 8 26220352 26220352 insertion of <=200bp - A exon_variant BRCA-EU 8 26220352 26220352 insertion of <=200bp - A frameshift_variant R264K? BRCA-EU 8 26220352 26220352 insertion of <=200bp - A frameshift_variant R274K? BRCA-EU 8 26220352 26220352 insertion of <=200bp - A frameshift_variant R43K? BRCA-EU 8 26220352 26220352 insertion of <=200bp - A upstream_gene_variant BRCA-EU 8 26220750 26220750 single base substitution T C downstream_gene_variant BRCA-EU 8 26220750 26220750 single base substitution T C exon_variant BRCA-EU 8 26220750 26220750 single base substitution T C intron_variant BRCA-EU 8 26220750 26220750 single base substitution T C upstream_gene_variant BRCA-EU 8 26221957 26221957 single base substitution C G downstream_gene_variant BRCA-EU 8 26221957 26221957 single base substitution C G intron_variant BRCA-EU 8 26221957 26221957 single base substitution C G upstream_gene_variant BRCA-EU 8 26222456 26222456 single base substitution C T downstream_gene_variant BRCA-EU 8 26222456 26222456 single base substitution C T intron_variant BRCA-EU 8 26222456 26222456 single base substitution C T upstream_gene_variant BRCA-EU 8 26222823 26222823 insertion of <=200bp - T downstream_gene_variant BRCA-EU 8 26222823 26222823 insertion of <=200bp - T exon_variant BRCA-EU 8 26222823 26222823 insertion of <=200bp - T intron_variant BRCA-EU 8 26223235 26223235 single base substitution A G downstream_gene_variant BRCA-EU 8 26223235 26223235 single base substitution A G exon_variant BRCA-EU 8 26223235 26223235 single base substitution A G intron_variant BRCA-EU 8 26224983 26224983 deletion of <=200bp T - intron_variant BRCA-EU 8 26226467 26226467 deletion of <=200bp A - intron_variant BRCA-EU 8 26226974 26226974 single base substitution T G intron_variant BRCA-EU 8 26228023 26228023 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 26228023 26228023 single base substitution C T downstream_gene_variant BRCA-EU 8 26228023 26228023 single base substitution C T exon_variant BRCA-EU 8 26228205 26228205 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 26228205 26228205 single base substitution G A downstream_gene_variant BRCA-EU 8 26228205 26228205 single base substitution G A exon_variant BRCA-EU 8 26231048 26231048 deletion of <=200bp C - downstream_gene_variant BRCA-FR 8 26151199 26151199 single base substitution G A 5_prime_UTR_variant BRCA-FR 8 26151199 26151199 single base substitution G A exon_variant BRCA-FR 8 26151199 26151199 single base substitution G A intron_variant BRCA-FR 8 26151199 26151199 single base substitution G A missense_variant D19N 55G>A BRCA-FR 8 26151199 26151199 single base substitution G A missense_variant D9N 25G>A BRCA-FR 8 26151199 26151199 single base substitution G A upstream_gene_variant BRCA-FR 8 26152830 26152830 single base substitution G A intron_variant BRCA-FR 8 26152830 26152830 single base substitution G A upstream_gene_variant BRCA-FR 8 26153409 26153409 single base substitution G T intron_variant BRCA-FR 8 26153409 26153409 single base substitution G T upstream_gene_variant BRCA-FR 8 26177561 26177561 single base substitution A C intron_variant BRCA-FR 8 26199961 26199961 single base substitution G T downstream_gene_variant BRCA-FR 8 26199961 26199961 single base substitution G T intron_variant BRCA-FR 8 26223479 26223479 single base substitution C G downstream_gene_variant BRCA-FR 8 26223479 26223479 single base substitution C G exon_variant BRCA-FR 8 26223479 26223479 single base substitution C G intron_variant BRCA-FR 8 26228529 26228529 single base substitution G T 3_prime_UTR_variant BRCA-FR 8 26228529 26228529 single base substitution G T downstream_gene_variant BRCA-FR 8 26228529 26228529 single base substitution G T exon_variant BRCA-UK 8 26146049 26146049 single base substitution G C upstream_gene_variant BRCA-UK 8 26146369 26146369 single base substitution C A upstream_gene_variant BRCA-UK 8 26188397 26188397 single base substitution C T intron_variant BRCA-UK 8 26196351 26196351 single base substitution A G intron_variant BRCA-UK 8 26196351 26196351 single base substitution A G upstream_gene_variant BRCA-US 8 26227655 26227655 single base substitution T A exon_variant BRCA-US 8 26227655 26227655 single base substitution T A missense_variant V136D 407T>A BRCA-US 8 26227655 26227655 single base substitution T A missense_variant V357D 1070T>A BRCA-US 8 26227655 26227655 single base substitution T A missense_variant V367D 1100T>A BTCA-JP 8 26149258 26149258 single base substitution C G 5_prime_UTR_variant BTCA-JP 8 26149258 26149258 single base substitution C G intron_variant BTCA-JP 8 26149258 26149258 single base substitution C G upstream_gene_variant BTCA-JP 8 26216607 26216607 single base substitution T G downstream_gene_variant BTCA-JP 8 26216607 26216607 single base substitution T G intron_variant BTCA-JP 8 26216607 26216607 single base substitution T G upstream_gene_variant BTCA-JP 8 26223907 26223907 single base substitution G T exon_variant BTCA-JP 8 26223907 26223907 single base substitution G T missense_variant W129L 386G>T BTCA-JP 8 26223907 26223907 single base substitution G T missense_variant W350L 1049G>T BTCA-JP 8 26223907 26223907 single base substitution G T missense_variant W360L 1079G>T CESC-US 8 26217696 26217696 single base substitution A C 3_prime_UTR_variant CESC-US 8 26217696 26217696 single base substitution A C 5_prime_UTR_variant CESC-US 8 26217696 26217696 single base substitution A C exon_variant CESC-US 8 26217696 26217696 single base substitution A C intron_variant CESC-US 8 26217696 26217696 single base substitution A C missense_variant K120Q 358A>C CESC-US 8 26217696 26217696 single base substitution A C missense_variant K130Q 388A>C CESC-US 8 26217696 26217696 single base substitution A C upstream_gene_variant CESC-US 8 26217714 26217714 single base substitution G A 3_prime_UTR_variant CESC-US 8 26217714 26217714 single base substitution G A 5_prime_UTR_variant CESC-US 8 26217714 26217714 single base substitution G A downstream_gene_variant CESC-US 8 26217714 26217714 single base substitution G A exon_variant CESC-US 8 26217714 26217714 single base substitution G A intron_variant CESC-US 8 26217714 26217714 single base substitution G A missense_variant E126K 376G>A CESC-US 8 26217714 26217714 single base substitution G A missense_variant E136K 406G>A CESC-US 8 26217714 26217714 single base substitution G A upstream_gene_variant CESC-US 8 26227787 26227787 single base substitution G A exon_variant CESC-US 8 26227787 26227787 single base substitution G A missense_variant G180D 539G>A CESC-US 8 26227787 26227787 single base substitution G A missense_variant G401D 1202G>A CESC-US 8 26227787 26227787 single base substitution G A missense_variant G411D 1232G>A CLLE-ES 8 26144305 26144305 single base substitution G A upstream_gene_variant CLLE-ES 8 26149495 26149495 single base substitution G A 5_prime_UTR_variant CLLE-ES 8 26149495 26149495 single base substitution G A intron_variant CLLE-ES 8 26149495 26149495 single base substitution G A upstream_gene_variant CLLE-ES 8 26170335 26170335 single base substitution A G intron_variant CLLE-ES 8 26174382 26174382 single base substitution A G intron_variant CLLE-ES 8 26177937 26177937 single base substitution G T intron_variant CLLE-ES 8 26191603 26191603 single base substitution A G intron_variant CLLE-ES 8 26198525 26198525 single base substitution T G downstream_gene_variant CLLE-ES 8 26198525 26198525 single base substitution T G intron_variant CLLE-ES 8 26201484 26201484 single base substitution T A downstream_gene_variant CLLE-ES 8 26201484 26201484 single base substitution T A intron_variant CLLE-ES 8 26234895 26234895 single base substitution T C downstream_gene_variant COAD-US 8 26196444 26196444 single base substitution G T 3_prime_UTR_variant COAD-US 8 26196444 26196444 single base substitution G T 5_prime_UTR_variant COAD-US 8 26196444 26196444 single base substitution G T exon_variant COAD-US 8 26196444 26196444 single base substitution G T intron_variant COAD-US 8 26196444 26196444 single base substitution G T stop_gained E41* 121G>T COAD-US 8 26196444 26196444 single base substitution G T stop_gained E51* 151G>T COAD-US 8 26196444 26196444 single base substitution G T upstream_gene_variant COAD-US 8 26218603 26218603 single base substitution A C downstream_gene_variant COAD-US 8 26218603 26218603 single base substitution A C exon_variant COAD-US 8 26218603 26218603 single base substitution A C intron_variant COAD-US 8 26218603 26218603 single base substitution A C synonymous_variant T191T 573A>C COAD-US 8 26218603 26218603 single base substitution A C synonymous_variant T201T 603A>C COAD-US 8 26218603 26218603 single base substitution A C upstream_gene_variant COAD-US 8 26220346 26220346 single base substitution T G downstream_gene_variant COAD-US 8 26220346 26220346 single base substitution T G exon_variant COAD-US 8 26220346 26220346 single base substitution T G missense_variant C262G 784T>G COAD-US 8 26220346 26220346 single base substitution T G missense_variant C272G 814T>G COAD-US 8 26220346 26220346 single base substitution T G missense_variant C41G 121T>G COAD-US 8 26220346 26220346 single base substitution T G upstream_gene_variant COAD-US 8 26221272 26221272 deletion of <=200bp T - downstream_gene_variant COAD-US 8 26221272 26221272 deletion of <=200bp T - exon_variant COAD-US 8 26221272 26221272 deletion of <=200bp T - frameshift_variant F280 COAD-US 8 26221272 26221272 deletion of <=200bp T - frameshift_variant F290 COAD-US 8 26221272 26221272 deletion of <=200bp T - frameshift_variant F59 COAD-US 8 26221272 26221272 deletion of <=200bp T - upstream_gene_variant COCA-CN 8 26150849 26150849 single base substitution A C exon_variant COCA-CN 8 26150849 26150849 single base substitution A C intron_variant COCA-CN 8 26150849 26150849 single base substitution A C upstream_gene_variant COCA-CN 8 26167733 26167733 single base substitution G C intron_variant COCA-CN 8 26169733 26169733 single base substitution A G intron_variant COCA-CN 8 26187830 26187830 single base substitution T C intron_variant COCA-CN 8 26187831 26187831 single base substitution T C intron_variant COCA-CN 8 26189187 26189187 single base substitution G A intron_variant COCA-CN 8 26216308 26216308 single base substitution A G downstream_gene_variant COCA-CN 8 26216308 26216308 single base substitution A G intron_variant COCA-CN 8 26216308 26216308 single base substitution A G upstream_gene_variant COCA-CN 8 26217776 26217776 single base substitution T C 3_prime_UTR_variant COCA-CN 8 26217776 26217776 single base substitution T C 5_prime_UTR_variant COCA-CN 8 26217776 26217776 single base substitution T C downstream_gene_variant COCA-CN 8 26217776 26217776 single base substitution T C exon_variant COCA-CN 8 26217776 26217776 single base substitution T C intron_variant COCA-CN 8 26217776 26217776 single base substitution T C synonymous_variant P146P 438T>C COCA-CN 8 26217776 26217776 single base substitution T C synonymous_variant P156P 468T>C COCA-CN 8 26217776 26217776 single base substitution T C upstream_gene_variant COCA-CN 8 26223752 26223752 single base substitution C T exon_variant COCA-CN 8 26223752 26223752 single base substitution C T intron_variant COCA-CN 8 26227582 26227582 single base substitution G A intron_variant EOPC-DE 8 26158153 26158153 single base substitution C T intron_variant ESAD-UK 8 26148440 26148440 single base substitution G A upstream_gene_variant ESAD-UK 8 26148975 26148975 single base substitution C T upstream_gene_variant ESAD-UK 8 26153000 26153000 single base substitution A G intron_variant ESAD-UK 8 26153000 26153000 single base substitution A G upstream_gene_variant ESAD-UK 8 26154632 26154633 deletion of <=200bp GT - intron_variant ESAD-UK 8 26154632 26154633 deletion of <=200bp GT - upstream_gene_variant ESAD-UK 8 26158935 26158935 single base substitution A G intron_variant ESAD-UK 8 26163811 26163811 single base substitution G A intron_variant ESAD-UK 8 26165647 26165647 single base substitution A T intron_variant ESAD-UK 8 26166259 26166259 single base substitution T G intron_variant ESAD-UK 8 26166296 26166296 single base substitution C T intron_variant ESAD-UK 8 26169734 26169734 single base substitution T G intron_variant ESAD-UK 8 26170531 26170531 single base substitution G A intron_variant ESAD-UK 8 26171972 26171972 single base substitution C T intron_variant ESAD-UK 8 26173308 26173308 single base substitution A C intron_variant ESAD-UK 8 26173330 26173330 single base substitution G A intron_variant ESAD-UK 8 26173420 26173420 single base substitution T C intron_variant ESAD-UK 8 26176704 26176704 single base substitution A G intron_variant ESAD-UK 8 26177785 26177785 single base substitution T G intron_variant ESAD-UK 8 26178071 26178071 single base substitution C T intron_variant ESAD-UK 8 26178470 26178470 single base substitution G C intron_variant ESAD-UK 8 26178739 26178739 single base substitution G T intron_variant ESAD-UK 8 26179936 26179936 single base substitution G A intron_variant ESAD-UK 8 26182824 26182824 single base substitution G A intron_variant ESAD-UK 8 26183356 26183356 single base substitution T G intron_variant ESAD-UK 8 26184154 26184154 single base substitution C A intron_variant ESAD-UK 8 26185457 26185457 single base substitution G A intron_variant ESAD-UK 8 26185933 26185933 single base substitution T G intron_variant ESAD-UK 8 26187832 26187832 single base substitution T C intron_variant ESAD-UK 8 26188210 26188210 single base substitution C G intron_variant ESAD-UK 8 26191058 26191058 single base substitution A C 3_prime_UTR_variant ESAD-UK 8 26191058 26191058 single base substitution A C exon_variant ESAD-UK 8 26191058 26191058 single base substitution A C intron_variant ESAD-UK 8 26192284 26192284 deletion of <=200bp A - intron_variant ESAD-UK 8 26193963 26193963 single base substitution G A intron_variant ESAD-UK 8 26193963 26193963 single base substitution G A upstream_gene_variant ESAD-UK 8 26194237 26194237 single base substitution T A intron_variant ESAD-UK 8 26194237 26194237 single base substitution T A upstream_gene_variant ESAD-UK 8 26194779 26194779 single base substitution C A intron_variant ESAD-UK 8 26194779 26194779 single base substitution C A upstream_gene_variant ESAD-UK 8 26203555 26203555 single base substitution C T intron_variant ESAD-UK 8 26204429 26204429 single base substitution G A intron_variant ESAD-UK 8 26207002 26207002 single base substitution C T intron_variant ESAD-UK 8 26207002 26207002 single base substitution C T upstream_gene_variant ESAD-UK 8 26207694 26207694 single base substitution C T intron_variant ESAD-UK 8 26207694 26207694 single base substitution C T upstream_gene_variant ESAD-UK 8 26210411 26210411 single base substitution G A intron_variant ESAD-UK 8 26210411 26210411 single base substitution G A upstream_gene_variant ESAD-UK 8 26213899 26213899 single base substitution C T downstream_gene_variant ESAD-UK 8 26213899 26213899 single base substitution C T intron_variant ESAD-UK 8 26213899 26213899 single base substitution C T upstream_gene_variant ESAD-UK 8 26214136 26214136 single base substitution G C downstream_gene_variant ESAD-UK 8 26214136 26214136 single base substitution G C intron_variant ESAD-UK 8 26214136 26214136 single base substitution G C upstream_gene_variant ESAD-UK 8 26215272 26215285 deletion of <=200bp TGCTTGTGGTGAGA - downstream_gene_variant ESAD-UK 8 26215272 26215285 deletion of <=200bp TGCTTGTGGTGAGA - intron_variant ESAD-UK 8 26215272 26215285 deletion of <=200bp TGCTTGTGGTGAGA - upstream_gene_variant ESAD-UK 8 26216027 26216027 single base substitution A T downstream_gene_variant ESAD-UK 8 26216027 26216027 single base substitution A T intron_variant ESAD-UK 8 26216027 26216027 single base substitution A T upstream_gene_variant ESAD-UK 8 26216924 26216924 single base substitution G A downstream_gene_variant ESAD-UK 8 26216924 26216924 single base substitution G A intron_variant ESAD-UK 8 26216924 26216924 single base substitution G A upstream_gene_variant ESAD-UK 8 26219435 26219435 single base substitution C T downstream_gene_variant ESAD-UK 8 26219435 26219435 single base substitution C T intron_variant ESAD-UK 8 26219435 26219435 single base substitution C T upstream_gene_variant ESAD-UK 8 26223770 26223770 single base substitution A G exon_variant ESAD-UK 8 26223770 26223770 single base substitution A G intron_variant ESAD-UK 8 26225493 26225493 single base substitution C T intron_variant ESAD-UK 8 26228607 26228607 single base substitution A G 3_prime_UTR_variant ESAD-UK 8 26228607 26228607 single base substitution A G downstream_gene_variant ESAD-UK 8 26228607 26228607 single base substitution A G exon_variant ESAD-UK 8 26229708 26229708 single base substitution A G 3_prime_UTR_variant ESAD-UK 8 26229708 26229708 single base substitution A G downstream_gene_variant ESAD-UK 8 26231523 26231523 single base substitution G A downstream_gene_variant ESAD-UK 8 26231641 26231641 single base substitution C G downstream_gene_variant ESAD-UK 8 26233050 26233050 single base substitution C G downstream_gene_variant ESAD-UK 8 26233083 26233083 single base substitution G C downstream_gene_variant ESAD-UK 8 26233134 26233134 single base substitution C A downstream_gene_variant ESAD-UK 8 26233472 26233472 single base substitution G C downstream_gene_variant ESAD-UK 8 26233736 26233736 single base substitution T C downstream_gene_variant ESCA-CN 8 26149213 26149213 single base substitution T C 5_prime_UTR_variant ESCA-CN 8 26149213 26149213 single base substitution T C intron_variant ESCA-CN 8 26149213 26149213 single base substitution T C upstream_gene_variant ESCA-CN 8 26217704 26217704 single base substitution G A 3_prime_UTR_variant ESCA-CN 8 26217704 26217704 single base substitution G A 5_prime_UTR_variant ESCA-CN 8 26217704 26217704 single base substitution G A downstream_gene_variant ESCA-CN 8 26217704 26217704 single base substitution G A exon_variant ESCA-CN 8 26217704 26217704 single base substitution G A intron_variant ESCA-CN 8 26217704 26217704 single base substitution G A stop_gained W122* 366G>A ESCA-CN 8 26217704 26217704 single base substitution G A stop_gained W132* 396G>A ESCA-CN 8 26217704 26217704 single base substitution G A upstream_gene_variant KIRC-US 8 26217736 26217736 single base substitution G T 3_prime_UTR_variant KIRC-US 8 26217736 26217736 single base substitution G T 5_prime_UTR_variant KIRC-US 8 26217736 26217736 single base substitution G T downstream_gene_variant KIRC-US 8 26217736 26217736 single base substitution G T exon_variant KIRC-US 8 26217736 26217736 single base substitution G T intron_variant KIRC-US 8 26217736 26217736 single base substitution G T missense_variant G133V 398G>T KIRC-US 8 26217736 26217736 single base substitution G T missense_variant G143V 428G>T KIRC-US 8 26217736 26217736 single base substitution G T upstream_gene_variant KIRP-US 8 26211991 26211991 single base substitution T C 3_prime_UTR_variant KIRP-US 8 26211991 26211991 single base substitution T C 5_prime_UTR_variant KIRP-US 8 26211991 26211991 single base substitution T C exon_variant KIRP-US 8 26211991 26211991 single base substitution T C intron_variant KIRP-US 8 26211991 26211991 single base substitution T C missense_variant I63T 188T>C KIRP-US 8 26211991 26211991 single base substitution T C missense_variant I73T 218T>C KIRP-US 8 26227846 26227849 deletion of <=200bp CACA - downstream_gene_variant KIRP-US 8 26227846 26227849 deletion of <=200bp CACA - exon_variant KIRP-US 8 26227846 26227849 deletion of <=200bp CACA - frameshift_variant HT421 KIRP-US 8 26227846 26227849 deletion of <=200bp CACA - frameshift_variant HT431 LAML-KR 8 26227599 26227599 single base substitution A C intron_variant LICA-CN 8 26221375 26221375 single base substitution A C downstream_gene_variant LICA-CN 8 26221375 26221375 single base substitution A C exon_variant LICA-CN 8 26221375 26221375 single base substitution A C missense_variant N314T 941A>C LICA-CN 8 26221375 26221375 single base substitution A C missense_variant N324T 971A>C LICA-CN 8 26221375 26221375 single base substitution A C missense_variant N93T 278A>C LICA-CN 8 26221375 26221375 single base substitution A C upstream_gene_variant LICA-FR 8 26164694 26164694 single base substitution T C intron_variant LICA-FR 8 26171891 26171891 single base substitution C T intron_variant LICA-FR 8 26187832 26187832 single base substitution T C intron_variant LICA-FR 8 26194100 26194100 single base substitution A T intron_variant LICA-FR 8 26194100 26194100 single base substitution A T upstream_gene_variant LICA-FR 8 26218720 26218720 single base substitution A G downstream_gene_variant LICA-FR 8 26218720 26218720 single base substitution A G intron_variant LICA-FR 8 26218720 26218720 single base substitution A G upstream_gene_variant LIHC-US 8 26227714 26227714 single base substitution A G exon_variant LIHC-US 8 26227714 26227714 single base substitution A G missense_variant I156V 466A>G LIHC-US 8 26227714 26227714 single base substitution A G missense_variant I377V 1129A>G LIHC-US 8 26227714 26227714 single base substitution A G missense_variant I387V 1159A>G LINC-JP 8 26149058 26149058 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 8 26149058 26149058 single base substitution C T upstream_gene_variant LINC-JP 8 26150857 26150857 single base substitution A G exon_variant LINC-JP 8 26150857 26150857 single base substitution A G intron_variant LINC-JP 8 26150857 26150857 single base substitution A G upstream_gene_variant LINC-JP 8 26170183 26170183 single base substitution A C intron_variant LINC-JP 8 26171898 26171898 single base substitution A G intron_variant LINC-JP 8 26191267 26191267 single base substitution A T intron_variant LINC-JP 8 26191492 26191492 single base substitution G A intron_variant LINC-JP 8 26212299 26212299 single base substitution A G downstream_gene_variant LINC-JP 8 26212299 26212299 single base substitution A G intron_variant LINC-JP 8 26216642 26216642 single base substitution C G downstream_gene_variant LINC-JP 8 26216642 26216642 single base substitution C G intron_variant LINC-JP 8 26216642 26216642 single base substitution C G upstream_gene_variant LINC-JP 8 26220375 26220375 single base substitution T G downstream_gene_variant LINC-JP 8 26220375 26220375 single base substitution T G exon_variant LINC-JP 8 26220375 26220375 single base substitution T G intron_variant LINC-JP 8 26220375 26220375 single base substitution T G upstream_gene_variant LINC-JP 8 26228674 26228674 single base substitution C A 3_prime_UTR_variant LINC-JP 8 26228674 26228674 single base substitution C A downstream_gene_variant LINC-JP 8 26234733 26234733 insertion of <=200bp - A downstream_gene_variant LIRI-JP 8 26146415 26146415 single base substitution C T upstream_gene_variant LIRI-JP 8 26147654 26147654 single base substitution C A upstream_gene_variant LIRI-JP 8 26147963 26147963 single base substitution C G upstream_gene_variant LIRI-JP 8 26150375 26150375 single base substitution G A intron_variant LIRI-JP 8 26150375 26150375 single base substitution G A upstream_gene_variant LIRI-JP 8 26150718 26150718 single base substitution T C intron_variant LIRI-JP 8 26150718 26150718 single base substitution T C upstream_gene_variant LIRI-JP 8 26151209 26151209 single base substitution G A 5_prime_UTR_variant LIRI-JP 8 26151209 26151209 single base substitution G A exon_variant LIRI-JP 8 26151209 26151209 single base substitution G A intron_variant LIRI-JP 8 26151209 26151209 single base substitution G A stop_gained W12* 35G>A LIRI-JP 8 26151209 26151209 single base substitution G A stop_gained W22* 65G>A LIRI-JP 8 26151209 26151209 single base substitution G A upstream_gene_variant LIRI-JP 8 26151712 26151712 single base substitution T C intron_variant LIRI-JP 8 26151712 26151712 single base substitution T C upstream_gene_variant LIRI-JP 8 26153173 26153173 single base substitution T C intron_variant LIRI-JP 8 26153173 26153173 single base substitution T C upstream_gene_variant LIRI-JP 8 26153703 26153703 single base substitution C A intron_variant LIRI-JP 8 26153703 26153703 single base substitution C A upstream_gene_variant LIRI-JP 8 26153796 26153796 single base substitution A C intron_variant LIRI-JP 8 26153796 26153796 single base substitution A C upstream_gene_variant LIRI-JP 8 26153928 26153928 single base substitution T A intron_variant LIRI-JP 8 26153928 26153928 single base substitution T A upstream_gene_variant LIRI-JP 8 26155403 26155403 single base substitution A G intron_variant LIRI-JP 8 26155403 26155403 single base substitution A G upstream_gene_variant LIRI-JP 8 26156070 26156070 single base substitution G A intron_variant LIRI-JP 8 26156070 26156070 single base substitution G A upstream_gene_variant LIRI-JP 8 26157049 26157049 single base substitution G A intron_variant LIRI-JP 8 26157418 26157418 single base substitution A G intron_variant LIRI-JP 8 26157756 26157756 single base substitution A C intron_variant LIRI-JP 8 26158242 26158242 single base substitution C T intron_variant LIRI-JP 8 26158684 26158684 single base substitution T G intron_variant LIRI-JP 8 26159474 26159474 single base substitution G A intron_variant LIRI-JP 8 26160345 26160345 single base substitution G T intron_variant LIRI-JP 8 26161813 26161813 single base substitution A G intron_variant LIRI-JP 8 26163384 26163384 insertion of <=200bp - T intron_variant LIRI-JP 8 26165727 26165727 single base substitution C G intron_variant LIRI-JP 8 26174134 26174134 single base substitution G A intron_variant LIRI-JP 8 26174188 26174188 single base substitution A C intron_variant LIRI-JP 8 26177009 26177009 single base substitution A G intron_variant LIRI-JP 8 26181308 26181308 single base substitution A G intron_variant LIRI-JP 8 26183812 26183812 single base substitution A C intron_variant LIRI-JP 8 26183828 26183828 single base substitution T G intron_variant LIRI-JP 8 26183997 26183997 single base substitution T C intron_variant LIRI-JP 8 26184310 26184310 single base substitution A G intron_variant LIRI-JP 8 26191570 26191571 deletion of <=200bp TA - intron_variant LIRI-JP 8 26192414 26192414 single base substitution A G intron_variant LIRI-JP 8 26192733 26192733 single base substitution C G intron_variant LIRI-JP 8 26192733 26192733 single base substitution C G upstream_gene_variant LIRI-JP 8 26201300 26201300 single base substitution A G downstream_gene_variant LIRI-JP 8 26201300 26201300 single base substitution A G intron_variant LIRI-JP 8 26202150 26202150 single base substitution A T downstream_gene_variant LIRI-JP 8 26202150 26202150 single base substitution A T intron_variant LIRI-JP 8 26202336 26202336 single base substitution A G downstream_gene_variant LIRI-JP 8 26202336 26202336 single base substitution A G intron_variant LIRI-JP 8 26202494 26202494 single base substitution A G intron_variant LIRI-JP 8 26203671 26203672 deletion of <=200bp TA - intron_variant LIRI-JP 8 26203692 26203692 single base substitution T A intron_variant LIRI-JP 8 26206288 26206288 single base substitution A T intron_variant LIRI-JP 8 26209079 26209079 single base substitution A T intron_variant LIRI-JP 8 26209079 26209079 single base substitution A T upstream_gene_variant LIRI-JP 8 26212335 26212335 single base substitution T C downstream_gene_variant LIRI-JP 8 26212335 26212335 single base substitution T C intron_variant LIRI-JP 8 26214209 26214209 single base substitution A G downstream_gene_variant LIRI-JP 8 26214209 26214209 single base substitution A G intron_variant LIRI-JP 8 26214209 26214209 single base substitution A G upstream_gene_variant LIRI-JP 8 26216034 26216034 single base substitution A T downstream_gene_variant LIRI-JP 8 26216034 26216034 single base substitution A T intron_variant LIRI-JP 8 26216034 26216034 single base substitution A T upstream_gene_variant LIRI-JP 8 26218396 26218396 single base substitution C G downstream_gene_variant LIRI-JP 8 26218396 26218396 single base substitution C G exon_variant LIRI-JP 8 26218396 26218396 single base substitution C G intron_variant LIRI-JP 8 26218396 26218396 single base substitution C G upstream_gene_variant LIRI-JP 8 26218550 26218550 single base substitution A G downstream_gene_variant LIRI-JP 8 26218550 26218550 single base substitution A G exon_variant LIRI-JP 8 26218550 26218550 single base substitution A G intron_variant LIRI-JP 8 26218550 26218550 single base substitution A G missense_variant N174D 520A>G LIRI-JP 8 26218550 26218550 single base substitution A G missense_variant N184D 550A>G LIRI-JP 8 26218550 26218550 single base substitution A G upstream_gene_variant LIRI-JP 8 26219263 26219263 single base substitution G T downstream_gene_variant LIRI-JP 8 26219263 26219263 single base substitution G T intron_variant LIRI-JP 8 26219263 26219263 single base substitution G T upstream_gene_variant LIRI-JP 8 26221324 26221324 single base substitution G T downstream_gene_variant LIRI-JP 8 26221324 26221324 single base substitution G T exon_variant LIRI-JP 8 26221324 26221324 single base substitution G T missense_variant G297V 890G>T LIRI-JP 8 26221324 26221324 single base substitution G T missense_variant G307V 920G>T LIRI-JP 8 26221324 26221324 single base substitution G T missense_variant G76V 227G>T LIRI-JP 8 26221324 26221324 single base substitution G T upstream_gene_variant LIRI-JP 8 26224585 26224585 single base substitution A G intron_variant LIRI-JP 8 26229303 26229303 single base substitution A G 3_prime_UTR_variant LIRI-JP 8 26229303 26229303 single base substitution A G downstream_gene_variant LIRI-JP 8 26230767 26230767 single base substitution T C downstream_gene_variant LIRI-JP 8 26233852 26233852 single base substitution A G downstream_gene_variant LUSC-KR 8 26149092 26149092 single base substitution C G 5_prime_UTR_variant LUSC-KR 8 26149092 26149092 single base substitution C G upstream_gene_variant LUSC-KR 8 26158315 26158315 single base substitution C T intron_variant LUSC-KR 8 26158385 26158385 single base substitution A G intron_variant LUSC-KR 8 26158644 26158644 single base substitution C T intron_variant LUSC-KR 8 26159948 26159948 single base substitution C T intron_variant LUSC-KR 8 26178682 26178682 single base substitution G A intron_variant LUSC-KR 8 26180169 26180169 single base substitution C G intron_variant LUSC-KR 8 26181161 26181161 single base substitution A G intron_variant LUSC-KR 8 26182556 26182556 single base substitution T C intron_variant LUSC-KR 8 26190110 26190110 single base substitution T C intron_variant LUSC-KR 8 26192028 26192028 single base substitution G T intron_variant LUSC-KR 8 26194352 26194352 single base substitution C G intron_variant LUSC-KR 8 26194352 26194352 single base substitution C G upstream_gene_variant LUSC-KR 8 26196633 26196633 single base substitution A T intron_variant LUSC-KR 8 26196633 26196633 single base substitution A T upstream_gene_variant LUSC-KR 8 26203372 26203372 single base substitution A G intron_variant LUSC-KR 8 26206970 26206970 single base substitution C A intron_variant LUSC-KR 8 26206970 26206970 single base substitution C A upstream_gene_variant LUSC-KR 8 26216474 26216474 single base substitution G A downstream_gene_variant LUSC-KR 8 26216474 26216474 single base substitution G A exon_variant LUSC-KR 8 26216474 26216474 single base substitution G A intron_variant LUSC-KR 8 26216474 26216474 single base substitution G A upstream_gene_variant LUSC-KR 8 26227599 26227599 single base substitution A C intron_variant LUSC-KR 8 26227640 26227640 single base substitution A G intron_variant LUSC-KR 8 26234293 26234293 single base substitution G C downstream_gene_variant LUSC-US 8 26218532 26218532 single base substitution C T downstream_gene_variant LUSC-US 8 26218532 26218532 single base substitution C T exon_variant LUSC-US 8 26218532 26218532 single base substitution C T intron_variant LUSC-US 8 26218532 26218532 single base substitution C T missense_variant P168S 502C>T LUSC-US 8 26218532 26218532 single base substitution C T missense_variant P178S 532C>T LUSC-US 8 26218532 26218532 single base substitution C T missense_variant P9S 25C>T LUSC-US 8 26218532 26218532 single base substitution C T upstream_gene_variant MALY-DE 8 26155863 26155863 single base substitution G T intron_variant MALY-DE 8 26155863 26155863 single base substitution G T upstream_gene_variant MALY-DE 8 26157434 26157434 single base substitution T G intron_variant MALY-DE 8 26157542 26157542 single base substitution A G intron_variant MALY-DE 8 26161546 26161546 single base substitution A G intron_variant MALY-DE 8 26165172 26165172 single base substitution G C intron_variant MALY-DE 8 26166374 26166375 deletion of <=200bp AT - intron_variant MALY-DE 8 26172065 26172065 single base substitution T G intron_variant MALY-DE 8 26173090 26173090 single base substitution C T intron_variant MALY-DE 8 26173561 26173561 deletion of <=200bp C - intron_variant MALY-DE 8 26176643 26176643 single base substitution C T intron_variant MALY-DE 8 26187798 26187798 single base substitution T A intron_variant MALY-DE 8 26189004 26189004 single base substitution G C intron_variant MALY-DE 8 26196411 26196413 deletion of <=200bp ATA - 3_prime_UTR_variant MALY-DE 8 26196411 26196413 deletion of <=200bp ATA - 5_prime_UTR_variant MALY-DE 8 26196411 26196413 deletion of <=200bp ATA - exon_variant MALY-DE 8 26196411 26196413 deletion of <=200bp ATA - inframe_deletion I30 MALY-DE 8 26196411 26196413 deletion of <=200bp ATA - inframe_deletion I40 MALY-DE 8 26196411 26196413 deletion of <=200bp ATA - intron_variant MALY-DE 8 26196411 26196413 deletion of <=200bp ATA - upstream_gene_variant MALY-DE 8 26209659 26209659 single base substitution G T intron_variant MALY-DE 8 26209659 26209659 single base substitution G T upstream_gene_variant MALY-DE 8 26210889 26210889 insertion of <=200bp - A intron_variant MALY-DE 8 26210889 26210889 insertion of <=200bp - A upstream_gene_variant MALY-DE 8 26214865 26214865 single base substitution T C downstream_gene_variant MALY-DE 8 26214865 26214865 single base substitution T C intron_variant MALY-DE 8 26214865 26214865 single base substitution T C upstream_gene_variant MALY-DE 8 26217846 26217846 single base substitution A T downstream_gene_variant MALY-DE 8 26217846 26217846 single base substitution A T intron_variant MALY-DE 8 26217846 26217846 single base substitution A T upstream_gene_variant MALY-DE 8 26217927 26217927 single base substitution A C downstream_gene_variant MALY-DE 8 26217927 26217927 single base substitution A C intron_variant MALY-DE 8 26217927 26217927 single base substitution A C upstream_gene_variant MALY-DE 8 26217948 26217948 single base substitution A G downstream_gene_variant MALY-DE 8 26217948 26217948 single base substitution A G intron_variant MALY-DE 8 26217948 26217948 single base substitution A G upstream_gene_variant MALY-DE 8 26224631 26224631 single base substitution T A intron_variant MALY-DE 8 26224916 26224916 single base substitution G A intron_variant MALY-DE 8 26229065 26229065 single base substitution A C 3_prime_UTR_variant MALY-DE 8 26229065 26229065 single base substitution A C downstream_gene_variant MELA-AU 8 26144123 26144123 single base substitution A T upstream_gene_variant MELA-AU 8 26144412 26144412 single base substitution G C upstream_gene_variant MELA-AU 8 26145178 26145178 single base substitution G A upstream_gene_variant MELA-AU 8 26145544 26145544 single base substitution G A upstream_gene_variant MELA-AU 8 26145617 26145617 single base substitution C T upstream_gene_variant MELA-AU 8 26145796 26145796 single base substitution G A upstream_gene_variant MELA-AU 8 26146192 26146192 single base substitution G A upstream_gene_variant MELA-AU 8 26146262 26146262 single base substitution C T upstream_gene_variant MELA-AU 8 26146655 26146655 single base substitution G A upstream_gene_variant MELA-AU 8 26148373 26148373 single base substitution C T upstream_gene_variant MELA-AU 8 26148925 26148926 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 26148962 26148963 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 26149025 26149025 single base substitution G A 5_prime_UTR_variant MELA-AU 8 26149025 26149025 single base substitution G A upstream_gene_variant MELA-AU 8 26149996 26149996 single base substitution T G intron_variant MELA-AU 8 26149996 26149996 single base substitution T G upstream_gene_variant MELA-AU 8 26150632 26150632 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 8 26150632 26150632 single base substitution G T intron_variant MELA-AU 8 26150632 26150632 single base substitution G T upstream_gene_variant MELA-AU 8 26151203 26151203 single base substitution T A 5_prime_UTR_variant MELA-AU 8 26151203 26151203 single base substitution T A exon_variant MELA-AU 8 26151203 26151203 single base substitution T A intron_variant MELA-AU 8 26151203 26151203 single base substitution T A missense_variant I10N 29T>A MELA-AU 8 26151203 26151203 single base substitution T A missense_variant I20N 59T>A MELA-AU 8 26151203 26151203 single base substitution T A upstream_gene_variant MELA-AU 8 26151334 26151334 single base substitution C T 3_prime_UTR_variant MELA-AU 8 26151334 26151334 single base substitution C T intron_variant MELA-AU 8 26151334 26151334 single base substitution C T upstream_gene_variant MELA-AU 8 26151354 26151354 single base substitution G C 3_prime_UTR_variant MELA-AU 8 26151354 26151354 single base substitution G C intron_variant MELA-AU 8 26151354 26151354 single base substitution G C upstream_gene_variant MELA-AU 8 26151372 26151372 single base substitution G C 3_prime_UTR_variant MELA-AU 8 26151372 26151372 single base substitution G C intron_variant MELA-AU 8 26151372 26151372 single base substitution G C upstream_gene_variant MELA-AU 8 26151395 26151395 single base substitution G C intron_variant MELA-AU 8 26151395 26151395 single base substitution G C upstream_gene_variant MELA-AU 8 26151496 26151496 single base substitution G C intron_variant MELA-AU 8 26151496 26151496 single base substitution G C upstream_gene_variant MELA-AU 8 26151516 26151516 single base substitution G C intron_variant MELA-AU 8 26151516 26151516 single base substitution G C upstream_gene_variant MELA-AU 8 26151610 26151610 single base substitution G C intron_variant MELA-AU 8 26151610 26151610 single base substitution G C upstream_gene_variant MELA-AU 8 26152182 26152182 single base substitution G C intron_variant MELA-AU 8 26152182 26152182 single base substitution G C upstream_gene_variant MELA-AU 8 26152400 26152400 single base substitution G C intron_variant MELA-AU 8 26152400 26152400 single base substitution G C upstream_gene_variant MELA-AU 8 26152795 26152795 single base substitution C T intron_variant MELA-AU 8 26152795 26152795 single base substitution C T upstream_gene_variant MELA-AU 8 26153054 26153054 single base substitution C T intron_variant MELA-AU 8 26153054 26153054 single base substitution C T upstream_gene_variant MELA-AU 8 26154791 26154791 single base substitution C T intron_variant MELA-AU 8 26154791 26154791 single base substitution C T upstream_gene_variant MELA-AU 8 26155262 26155262 single base substitution G A intron_variant MELA-AU 8 26155262 26155262 single base substitution G A upstream_gene_variant MELA-AU 8 26155809 26155809 single base substitution C T intron_variant MELA-AU 8 26155809 26155809 single base substitution C T upstream_gene_variant MELA-AU 8 26155834 26155834 single base substitution C T intron_variant MELA-AU 8 26155834 26155834 single base substitution C T upstream_gene_variant MELA-AU 8 26156297 26156297 single base substitution C T intron_variant MELA-AU 8 26156802 26156802 single base substitution C A intron_variant MELA-AU 8 26156844 26156844 single base substitution C T intron_variant MELA-AU 8 26157101 26157101 single base substitution C T intron_variant MELA-AU 8 26157710 26157710 single base substitution A T intron_variant MELA-AU 8 26158093 26158094 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 26158452 26158452 single base substitution G A intron_variant MELA-AU 8 26159196 26159196 single base substitution C T intron_variant MELA-AU 8 26160076 26160076 single base substitution C T intron_variant MELA-AU 8 26160089 26160089 single base substitution C T intron_variant MELA-AU 8 26160114 26160114 single base substitution C T intron_variant MELA-AU 8 26160125 26160125 single base substitution C T intron_variant MELA-AU 8 26160126 26160126 single base substitution C T intron_variant MELA-AU 8 26160268 26160268 single base substitution C T intron_variant MELA-AU 8 26160773 26160773 single base substitution C T intron_variant MELA-AU 8 26161419 26161419 single base substitution G T intron_variant MELA-AU 8 26161850 26161850 single base substitution G A intron_variant MELA-AU 8 26162275 26162275 single base substitution C T intron_variant MELA-AU 8 26165661 26165661 single base substitution T C intron_variant MELA-AU 8 26166296 26166296 single base substitution C T intron_variant MELA-AU 8 26166374 26166375 deletion of <=200bp AT - intron_variant MELA-AU 8 26166608 26166608 single base substitution C T intron_variant MELA-AU 8 26167068 26167068 single base substitution C T intron_variant MELA-AU 8 26167546 26167546 single base substitution C T intron_variant MELA-AU 8 26167986 26167986 single base substitution C T intron_variant MELA-AU 8 26168184 26168184 single base substitution C T intron_variant MELA-AU 8 26168448 26168448 single base substitution C T intron_variant MELA-AU 8 26169171 26169171 single base substitution G T intron_variant MELA-AU 8 26169542 26169542 single base substitution C A intron_variant MELA-AU 8 26169974 26169975 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 26170127 26170127 single base substitution A G intron_variant MELA-AU 8 26170343 26170344 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 26170840 26170840 single base substitution C T intron_variant MELA-AU 8 26171141 26171141 single base substitution G A intron_variant MELA-AU 8 26172160 26172160 single base substitution T G intron_variant MELA-AU 8 26173268 26173268 single base substitution T A intron_variant MELA-AU 8 26173456 26173456 single base substitution G A intron_variant MELA-AU 8 26173583 26173583 single base substitution C T intron_variant MELA-AU 8 26174097 26174097 single base substitution C T intron_variant MELA-AU 8 26174230 26174230 single base substitution T G intron_variant MELA-AU 8 26174334 26174334 single base substitution C T intron_variant MELA-AU 8 26175901 26175901 single base substitution G A intron_variant MELA-AU 8 26175952 26175952 single base substitution A T intron_variant MELA-AU 8 26176749 26176749 single base substitution C A intron_variant MELA-AU 8 26177549 26177549 single base substitution T C intron_variant MELA-AU 8 26177749 26177749 single base substitution G A intron_variant MELA-AU 8 26177878 26177878 single base substitution C T intron_variant MELA-AU 8 26179801 26179801 single base substitution C T intron_variant MELA-AU 8 26179982 26179982 single base substitution C T intron_variant MELA-AU 8 26180123 26180124 multiple base substitution (>=2bp and <=200bp) TA AC intron_variant MELA-AU 8 26181276 26181276 single base substitution C T intron_variant MELA-AU 8 26181843 26181843 single base substitution T C intron_variant MELA-AU 8 26182140 26182140 single base substitution C T intron_variant MELA-AU 8 26182271 26182271 single base substitution A T intron_variant MELA-AU 8 26182583 26182583 single base substitution G T intron_variant MELA-AU 8 26182773 26182773 single base substitution G A intron_variant MELA-AU 8 26182921 26182921 single base substitution G T intron_variant MELA-AU 8 26183925 26183925 single base substitution A T intron_variant MELA-AU 8 26183928 26183928 single base substitution T C intron_variant MELA-AU 8 26184825 26184825 single base substitution C T intron_variant MELA-AU 8 26185512 26185512 single base substitution A T intron_variant MELA-AU 8 26185885 26185885 single base substitution T C intron_variant MELA-AU 8 26185893 26185893 single base substitution C T intron_variant MELA-AU 8 26186689 26186689 single base substitution C T intron_variant MELA-AU 8 26186751 26186751 single base substitution C T intron_variant MELA-AU 8 26187037 26187037 single base substitution C T intron_variant MELA-AU 8 26187934 26187935 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 26188756 26188756 single base substitution C T intron_variant MELA-AU 8 26189597 26189597 single base substitution C A intron_variant MELA-AU 8 26189597 26189597 single base substitution C T intron_variant MELA-AU 8 26190075 26190075 single base substitution C T intron_variant MELA-AU 8 26192769 26192769 single base substitution C T intron_variant MELA-AU 8 26192769 26192769 single base substitution C T upstream_gene_variant MELA-AU 8 26192927 26192927 single base substitution T C intron_variant MELA-AU 8 26192927 26192927 single base substitution T C upstream_gene_variant MELA-AU 8 26193015 26193015 single base substitution G A intron_variant MELA-AU 8 26193015 26193015 single base substitution G A upstream_gene_variant MELA-AU 8 26193977 26193977 single base substitution C T intron_variant MELA-AU 8 26193977 26193977 single base substitution C T upstream_gene_variant MELA-AU 8 26196489 26196489 single base substitution C T 3_prime_UTR_variant MELA-AU 8 26196489 26196489 single base substitution C T 5_prime_UTR_variant MELA-AU 8 26196489 26196489 single base substitution C T exon_variant MELA-AU 8 26196489 26196489 single base substitution C T intron_variant MELA-AU 8 26196489 26196489 single base substitution C T stop_gained Q56* 166C>T MELA-AU 8 26196489 26196489 single base substitution C T stop_gained Q66* 196C>T MELA-AU 8 26196489 26196489 single base substitution C T upstream_gene_variant MELA-AU 8 26197623 26197623 single base substitution G T downstream_gene_variant MELA-AU 8 26197623 26197623 single base substitution G T intron_variant MELA-AU 8 26197725 26197725 single base substitution C T downstream_gene_variant MELA-AU 8 26197725 26197725 single base substitution C T intron_variant MELA-AU 8 26199120 26199120 single base substitution C T downstream_gene_variant MELA-AU 8 26199120 26199120 single base substitution C T intron_variant MELA-AU 8 26199353 26199353 single base substitution T C downstream_gene_variant MELA-AU 8 26199353 26199353 single base substitution T C intron_variant MELA-AU 8 26200020 26200020 single base substitution G T downstream_gene_variant MELA-AU 8 26200020 26200020 single base substitution G T intron_variant MELA-AU 8 26201460 26201460 single base substitution C T downstream_gene_variant MELA-AU 8 26201460 26201460 single base substitution C T intron_variant MELA-AU 8 26202815 26202815 single base substitution C T intron_variant MELA-AU 8 26203000 26203000 single base substitution C T intron_variant MELA-AU 8 26204633 26204633 single base substitution G A intron_variant MELA-AU 8 26204757 26204757 single base substitution C T intron_variant MELA-AU 8 26204811 26204811 single base substitution A G intron_variant MELA-AU 8 26205273 26205273 single base substitution C T intron_variant MELA-AU 8 26207740 26207740 single base substitution C T intron_variant MELA-AU 8 26207740 26207740 single base substitution C T upstream_gene_variant MELA-AU 8 26208166 26208166 single base substitution C T exon_variant MELA-AU 8 26208166 26208166 single base substitution C T intron_variant MELA-AU 8 26208166 26208166 single base substitution C T upstream_gene_variant MELA-AU 8 26208696 26208696 single base substitution C G intron_variant MELA-AU 8 26208696 26208696 single base substitution C G upstream_gene_variant MELA-AU 8 26208704 26208704 single base substitution C T intron_variant MELA-AU 8 26208704 26208704 single base substitution C T upstream_gene_variant MELA-AU 8 26208935 26208935 single base substitution C T intron_variant MELA-AU 8 26208935 26208935 single base substitution C T upstream_gene_variant MELA-AU 8 26209709 26209709 single base substitution T C intron_variant MELA-AU 8 26209709 26209709 single base substitution T C upstream_gene_variant MELA-AU 8 26210768 26210768 single base substitution C T intron_variant MELA-AU 8 26210768 26210768 single base substitution C T upstream_gene_variant MELA-AU 8 26210858 26210858 single base substitution G A intron_variant MELA-AU 8 26210858 26210858 single base substitution G A upstream_gene_variant MELA-AU 8 26211223 26211223 single base substitution C T intron_variant MELA-AU 8 26211223 26211223 single base substitution C T upstream_gene_variant MELA-AU 8 26211552 26211552 single base substitution C T intron_variant MELA-AU 8 26211552 26211552 single base substitution C T upstream_gene_variant MELA-AU 8 26212587 26212587 single base substitution C A downstream_gene_variant MELA-AU 8 26212587 26212587 single base substitution C A intron_variant MELA-AU 8 26212864 26212864 single base substitution C T downstream_gene_variant MELA-AU 8 26212864 26212864 single base substitution C T intron_variant MELA-AU 8 26215580 26215580 single base substitution C T downstream_gene_variant MELA-AU 8 26215580 26215580 single base substitution C T intron_variant MELA-AU 8 26215580 26215580 single base substitution C T upstream_gene_variant MELA-AU 8 26215618 26215618 single base substitution C T downstream_gene_variant MELA-AU 8 26215618 26215618 single base substitution C T intron_variant MELA-AU 8 26215618 26215618 single base substitution C T upstream_gene_variant MELA-AU 8 26215624 26215624 single base substitution C T downstream_gene_variant MELA-AU 8 26215624 26215624 single base substitution C T intron_variant MELA-AU 8 26215624 26215624 single base substitution C T upstream_gene_variant MELA-AU 8 26216347 26216347 single base substitution C T downstream_gene_variant MELA-AU 8 26216347 26216347 single base substitution C T intron_variant MELA-AU 8 26216347 26216347 single base substitution C T upstream_gene_variant MELA-AU 8 26216955 26216955 single base substitution G A downstream_gene_variant MELA-AU 8 26216955 26216955 single base substitution G A intron_variant MELA-AU 8 26216955 26216955 single base substitution G A upstream_gene_variant MELA-AU 8 26217643 26217643 single base substitution C T intron_variant MELA-AU 8 26217643 26217643 single base substitution C T upstream_gene_variant MELA-AU 8 26217763 26217763 single base substitution G A 3_prime_UTR_variant MELA-AU 8 26217763 26217763 single base substitution G A 5_prime_UTR_variant MELA-AU 8 26217763 26217763 single base substitution G A downstream_gene_variant MELA-AU 8 26217763 26217763 single base substitution G A exon_variant MELA-AU 8 26217763 26217763 single base substitution G A intron_variant MELA-AU 8 26217763 26217763 single base substitution G A missense_variant R142K 425G>A MELA-AU 8 26217763 26217763 single base substitution G A missense_variant R152K 455G>A MELA-AU 8 26217763 26217763 single base substitution G A upstream_gene_variant MELA-AU 8 26217859 26217859 single base substitution C T downstream_gene_variant MELA-AU 8 26217859 26217859 single base substitution C T intron_variant MELA-AU 8 26217859 26217859 single base substitution C T upstream_gene_variant MELA-AU 8 26218339 26218339 single base substitution A G downstream_gene_variant MELA-AU 8 26218339 26218339 single base substitution A G exon_variant MELA-AU 8 26218339 26218339 single base substitution A G intron_variant MELA-AU 8 26218339 26218339 single base substitution A G upstream_gene_variant MELA-AU 8 26220634 26220634 single base substitution C T downstream_gene_variant MELA-AU 8 26220634 26220634 single base substitution C T exon_variant MELA-AU 8 26220634 26220634 single base substitution C T intron_variant MELA-AU 8 26220634 26220634 single base substitution C T upstream_gene_variant MELA-AU 8 26221718 26221718 single base substitution C T downstream_gene_variant MELA-AU 8 26221718 26221718 single base substitution C T intron_variant MELA-AU 8 26221718 26221718 single base substitution C T upstream_gene_variant MELA-AU 8 26221903 26221903 single base substitution C T downstream_gene_variant MELA-AU 8 26221903 26221903 single base substitution C T intron_variant MELA-AU 8 26221903 26221903 single base substitution C T upstream_gene_variant MELA-AU 8 26225719 26225719 single base substitution G A intron_variant MELA-AU 8 26225788 26225788 single base substitution T A intron_variant MELA-AU 8 26226621 26226621 single base substitution C T intron_variant MELA-AU 8 26226923 26226923 single base substitution C T intron_variant MELA-AU 8 26227130 26227130 single base substitution G A intron_variant MELA-AU 8 26227428 26227428 single base substitution G C intron_variant MELA-AU 8 26228334 26228334 single base substitution C T 3_prime_UTR_variant MELA-AU 8 26228334 26228334 single base substitution C T downstream_gene_variant MELA-AU 8 26228334 26228334 single base substitution C T exon_variant MELA-AU 8 26230708 26230708 single base substitution C T downstream_gene_variant MELA-AU 8 26232420 26232420 single base substitution A G downstream_gene_variant MELA-AU 8 26233632 26233632 single base substitution C T downstream_gene_variant MELA-AU 8 26234592 26234592 single base substitution C T downstream_gene_variant MELA-AU 8 26235165 26235165 single base substitution C T downstream_gene_variant ORCA-IN 8 26146948 26146948 single base substitution C G upstream_gene_variant ORCA-IN 8 26173541 26173541 single base substitution G A intron_variant ORCA-IN 8 26178811 26178824 deletion of <=200bp AGAGAAATGTGACC - intron_variant OV-AU 8 26162605 26162605 single base substitution C A intron_variant OV-AU 8 26172420 26172420 single base substitution A C intron_variant OV-AU 8 26173698 26173698 single base substitution A G intron_variant OV-AU 8 26177441 26177441 single base substitution G A intron_variant OV-AU 8 26182262 26182262 single base substitution G C intron_variant OV-AU 8 26185793 26185793 single base substitution T C intron_variant OV-AU 8 26195874 26195874 single base substitution G A intron_variant OV-AU 8 26195874 26195874 single base substitution G A upstream_gene_variant OV-AU 8 26197511 26197511 single base substitution G T downstream_gene_variant OV-AU 8 26197511 26197511 single base substitution G T intron_variant OV-AU 8 26197661 26197661 single base substitution C T downstream_gene_variant OV-AU 8 26197661 26197661 single base substitution C T intron_variant OV-AU 8 26201804 26201804 single base substitution G C downstream_gene_variant OV-AU 8 26201804 26201804 single base substitution G C intron_variant OV-AU 8 26206677 26206677 single base substitution A G intron_variant OV-AU 8 26208882 26208882 single base substitution A G intron_variant OV-AU 8 26208882 26208882 single base substitution A G upstream_gene_variant OV-AU 8 26230448 26230448 single base substitution A C downstream_gene_variant PACA-AU 8 26144546 26144546 deletion of <=200bp A - upstream_gene_variant PACA-AU 8 26148681 26148695 deletion of <=200bp CCCGGCCCAGGTATT - upstream_gene_variant PACA-AU 8 26150009 26150009 single base substitution T C intron_variant PACA-AU 8 26150009 26150009 single base substitution T C upstream_gene_variant PACA-AU 8 26160649 26160649 single base substitution G C intron_variant PACA-AU 8 26161267 26161267 single base substitution T A intron_variant PACA-AU 8 26161764 26161764 single base substitution A G intron_variant PACA-AU 8 26167247 26167247 single base substitution G C intron_variant PACA-AU 8 26168831 26168831 single base substitution G C intron_variant PACA-AU 8 26179274 26179274 insertion of <=200bp - C intron_variant PACA-AU 8 26182234 26182234 single base substitution C T intron_variant PACA-AU 8 26192284 26192284 deletion of <=200bp A - intron_variant PACA-AU 8 26200256 26200256 deletion of <=200bp T - downstream_gene_variant PACA-AU 8 26200256 26200256 deletion of <=200bp T - intron_variant PACA-AU 8 26226641 26226641 insertion of <=200bp - AC intron_variant PACA-AU 8 26228343 26228343 deletion of <=200bp T - 3_prime_UTR_variant PACA-AU 8 26228343 26228343 deletion of <=200bp T - downstream_gene_variant PACA-AU 8 26228343 26228343 deletion of <=200bp T - exon_variant PACA-CA 8 26145438 26145438 single base substitution T G upstream_gene_variant PACA-CA 8 26146479 26146479 deletion of <=200bp T - upstream_gene_variant PACA-CA 8 26147237 26147237 single base substitution C T upstream_gene_variant PACA-CA 8 26147623 26147623 single base substitution A C upstream_gene_variant PACA-CA 8 26147929 26147929 single base substitution A T upstream_gene_variant PACA-CA 8 26147930 26147930 single base substitution T A upstream_gene_variant PACA-CA 8 26151909 26151909 single base substitution T C intron_variant PACA-CA 8 26151909 26151909 single base substitution T C upstream_gene_variant PACA-CA 8 26155939 26155939 single base substitution G C intron_variant PACA-CA 8 26155939 26155939 single base substitution G C upstream_gene_variant PACA-CA 8 26159604 26159604 single base substitution A G intron_variant PACA-CA 8 26165769 26165769 single base substitution G A intron_variant PACA-CA 8 26166656 26166656 single base substitution A G intron_variant PACA-CA 8 26168646 26168646 single base substitution C T intron_variant PACA-CA 8 26168763 26168763 single base substitution C G intron_variant PACA-CA 8 26168910 26168910 single base substitution C T intron_variant PACA-CA 8 26169139 26169139 single base substitution C T intron_variant PACA-CA 8 26169243 26169243 deletion of <=200bp C - intron_variant PACA-CA 8 26169251 26169251 single base substitution C T intron_variant PACA-CA 8 26172564 26172564 deletion of <=200bp C - intron_variant PACA-CA 8 26173330 26173330 single base substitution G A intron_variant PACA-CA 8 26180658 26180658 single base substitution C G intron_variant PACA-CA 8 26187315 26187315 single base substitution A G intron_variant PACA-CA 8 26187400 26187400 single base substitution A T intron_variant PACA-CA 8 26196522 26196522 single base substitution T C intron_variant PACA-CA 8 26196522 26196522 single base substitution T C upstream_gene_variant PACA-CA 8 26198147 26198147 single base substitution G T downstream_gene_variant PACA-CA 8 26198147 26198147 single base substitution G T intron_variant PACA-CA 8 26199439 26199439 single base substitution T C downstream_gene_variant PACA-CA 8 26199439 26199439 single base substitution T C intron_variant PACA-CA 8 26199653 26199653 single base substitution C T downstream_gene_variant PACA-CA 8 26199653 26199653 single base substitution C T intron_variant PACA-CA 8 26199654 26199654 single base substitution G T downstream_gene_variant PACA-CA 8 26199654 26199654 single base substitution G T intron_variant PACA-CA 8 26202104 26202104 single base substitution G C downstream_gene_variant PACA-CA 8 26202104 26202104 single base substitution G C intron_variant PACA-CA 8 26202218 26202218 single base substitution G A downstream_gene_variant PACA-CA 8 26202218 26202218 single base substitution G A intron_variant PACA-CA 8 26202401 26202401 single base substitution G T downstream_gene_variant PACA-CA 8 26202401 26202401 single base substitution G T intron_variant PACA-CA 8 26204182 26204182 single base substitution C G intron_variant PACA-CA 8 26206753 26206756 deletion of <=200bp TGTG - intron_variant PACA-CA 8 26208092 26208092 single base substitution T C intron_variant PACA-CA 8 26208092 26208092 single base substitution T C upstream_gene_variant PACA-CA 8 26211799 26211799 deletion of <=200bp C - intron_variant PACA-CA 8 26211799 26211799 deletion of <=200bp C - upstream_gene_variant PACA-CA 8 26213893 26213893 single base substitution G C downstream_gene_variant PACA-CA 8 26213893 26213893 single base substitution G C intron_variant PACA-CA 8 26213893 26213893 single base substitution G C upstream_gene_variant PACA-CA 8 26217014 26217014 single base substitution A G downstream_gene_variant PACA-CA 8 26217014 26217014 single base substitution A G intron_variant PACA-CA 8 26217014 26217014 single base substitution A G upstream_gene_variant PACA-CA 8 26219617 26219617 insertion of <=200bp - A downstream_gene_variant PACA-CA 8 26219617 26219617 insertion of <=200bp - A intron_variant PACA-CA 8 26219617 26219617 insertion of <=200bp - A upstream_gene_variant PACA-CA 8 26221251 26221251 single base substitution G A downstream_gene_variant PACA-CA 8 26221251 26221251 single base substitution G A exon_variant PACA-CA 8 26221251 26221251 single base substitution G A missense_variant E273K 817G>A PACA-CA 8 26221251 26221251 single base substitution G A missense_variant E283K 847G>A PACA-CA 8 26221251 26221251 single base substitution G A missense_variant E52K 154G>A PACA-CA 8 26221251 26221251 single base substitution G A upstream_gene_variant PACA-CA 8 26224144 26224144 insertion of <=200bp - T intron_variant PACA-CA 8 26227732 26227732 single base substitution C T exon_variant PACA-CA 8 26227732 26227732 single base substitution C T missense_variant R162W 484C>T PACA-CA 8 26227732 26227732 single base substitution C T missense_variant R383W 1147C>T PACA-CA 8 26227732 26227732 single base substitution C T missense_variant R393W 1177C>T PACA-CA 8 26228031 26228031 single base substitution T G 3_prime_UTR_variant PACA-CA 8 26228031 26228031 single base substitution T G downstream_gene_variant PACA-CA 8 26228031 26228031 single base substitution T G exon_variant PACA-CA 8 26230210 26230210 single base substitution A G downstream_gene_variant PACA-CA 8 26233868 26233868 single base substitution G C downstream_gene_variant PAEN-AU 8 26150732 26150732 single base substitution A T 5_prime_UTR_variant PAEN-AU 8 26150732 26150732 single base substitution A T exon_variant PAEN-AU 8 26150732 26150732 single base substitution A T intron_variant PAEN-AU 8 26150732 26150732 single base substitution A T upstream_gene_variant PAEN-AU 8 26206747 26206747 single base substitution G T intron_variant PAEN-IT 8 26226175 26226175 single base substitution G C intron_variant PBCA-DE 8 26148921 26148921 single base substitution G A upstream_gene_variant PBCA-DE 8 26165167 26165167 single base substitution T G intron_variant PBCA-DE 8 26166374 26166375 deletion of <=200bp AT - intron_variant PBCA-DE 8 26167711 26167711 insertion of <=200bp - GG intron_variant PBCA-DE 8 26184953 26184953 single base substitution T C intron_variant PBCA-DE 8 26192451 26192451 single base substitution G T intron_variant PBCA-DE 8 26192451 26192451 single base substitution G T upstream_gene_variant PRAD-CA 8 26144998 26144998 single base substitution G A upstream_gene_variant PRAD-CA 8 26161050 26161050 single base substitution C G intron_variant PRAD-CA 8 26177879 26177879 single base substitution G C intron_variant PRAD-CA 8 26211970 26211970 single base substitution T A exon_variant PRAD-CA 8 26211970 26211970 single base substitution T A intron_variant PRAD-CA 8 26216891 26216891 single base substitution A G downstream_gene_variant PRAD-CA 8 26216891 26216891 single base substitution A G intron_variant PRAD-CA 8 26216891 26216891 single base substitution A G upstream_gene_variant PRAD-UK 8 26194924 26194924 single base substitution A C intron_variant PRAD-UK 8 26194924 26194924 single base substitution A C upstream_gene_variant PRAD-UK 8 26197096 26197096 single base substitution C T intron_variant PRAD-UK 8 26197096 26197096 single base substitution C T upstream_gene_variant PRAD-UK 8 26201969 26201969 single base substitution C A downstream_gene_variant PRAD-UK 8 26201969 26201969 single base substitution C A intron_variant PRAD-UK 8 26223923 26223923 single base substitution G C splice_donor_variant READ-US 8 26196444 26196444 single base substitution G T 3_prime_UTR_variant READ-US 8 26196444 26196444 single base substitution G T 5_prime_UTR_variant READ-US 8 26196444 26196444 single base substitution G T exon_variant READ-US 8 26196444 26196444 single base substitution G T intron_variant READ-US 8 26196444 26196444 single base substitution G T stop_gained E41* 121G>T READ-US 8 26196444 26196444 single base substitution G T stop_gained E51* 151G>T READ-US 8 26196444 26196444 single base substitution G T upstream_gene_variant READ-US 8 26227751 26227751 single base substitution G A exon_variant READ-US 8 26227751 26227751 single base substitution G A missense_variant R168H 503G>A READ-US 8 26227751 26227751 single base substitution G A missense_variant R389H 1166G>A READ-US 8 26227751 26227751 single base substitution G A missense_variant R399H 1196G>A RECA-EU 8 26162753 26162753 single base substitution T G intron_variant RECA-EU 8 26163304 26163304 single base substitution C A intron_variant RECA-EU 8 26188374 26188374 single base substitution C A intron_variant RECA-EU 8 26191701 26191701 single base substitution A T intron_variant RECA-EU 8 26230037 26230037 single base substitution A C 3_prime_UTR_variant RECA-EU 8 26230037 26230037 single base substitution A C downstream_gene_variant SKCA-BR 8 26146673 26146673 single base substitution C T upstream_gene_variant SKCA-BR 8 26149677 26149677 single base substitution A C exon_variant SKCA-BR 8 26149677 26149677 single base substitution A C intron_variant SKCA-BR 8 26149677 26149677 single base substitution A C upstream_gene_variant SKCA-BR 8 26151425 26151425 single base substitution C T intron_variant SKCA-BR 8 26151425 26151425 single base substitution C T upstream_gene_variant SKCA-BR 8 26151977 26151977 single base substitution C T intron_variant SKCA-BR 8 26151977 26151977 single base substitution C T upstream_gene_variant SKCA-BR 8 26152177 26152177 single base substitution C T intron_variant SKCA-BR 8 26152177 26152177 single base substitution C T upstream_gene_variant SKCA-BR 8 26158321 26158321 single base substitution C T intron_variant SKCA-BR 8 26159818 26159818 single base substitution C T intron_variant SKCA-BR 8 26160739 26160739 single base substitution G A intron_variant SKCA-BR 8 26161198 26161198 single base substitution C T intron_variant SKCA-BR 8 26161849 26161849 single base substitution G A intron_variant SKCA-BR 8 26164044 26164044 single base substitution G A intron_variant SKCA-BR 8 26166138 26166138 single base substitution C T intron_variant SKCA-BR 8 26167710 26167710 insertion of <=200bp - TGG intron_variant SKCA-BR 8 26167712 26167714 deletion of <=200bp ATT - intron_variant SKCA-BR 8 26181963 26181963 single base substitution C T intron_variant SKCA-BR 8 26192509 26192509 single base substitution C T intron_variant SKCA-BR 8 26192509 26192509 single base substitution C T upstream_gene_variant SKCA-BR 8 26194370 26194370 insertion of <=200bp - CT intron_variant SKCA-BR 8 26194370 26194370 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 8 26199267 26199267 single base substitution T G downstream_gene_variant SKCA-BR 8 26199267 26199267 single base substitution T G intron_variant SKCA-BR 8 26199340 26199340 single base substitution G A downstream_gene_variant SKCA-BR 8 26199340 26199340 single base substitution G A intron_variant SKCA-BR 8 26201248 26201248 single base substitution C T downstream_gene_variant SKCA-BR 8 26201248 26201248 single base substitution C T intron_variant SKCA-BR 8 26205604 26205626 deletion of <=200bp ATATAAAACAAATGACTGCTTAC - intron_variant SKCA-BR 8 26210936 26210936 single base substitution C T intron_variant SKCA-BR 8 26210936 26210936 single base substitution C T upstream_gene_variant SKCA-BR 8 26212759 26212759 single base substitution A T downstream_gene_variant SKCA-BR 8 26212759 26212759 single base substitution A T intron_variant SKCA-BR 8 26214797 26214797 insertion of <=200bp - AC downstream_gene_variant SKCA-BR 8 26214797 26214797 insertion of <=200bp - AC intron_variant SKCA-BR 8 26214797 26214797 insertion of <=200bp - AC upstream_gene_variant SKCA-BR 8 26220746 26220746 single base substitution C A downstream_gene_variant SKCA-BR 8 26220746 26220746 single base substitution C A exon_variant SKCA-BR 8 26220746 26220746 single base substitution C A intron_variant SKCA-BR 8 26220746 26220746 single base substitution C A upstream_gene_variant SKCA-BR 8 26221331 26221331 single base substitution T C downstream_gene_variant SKCA-BR 8 26221331 26221331 single base substitution T C exon_variant SKCA-BR 8 26221331 26221331 single base substitution T C synonymous_variant Y299Y 897T>C SKCA-BR 8 26221331 26221331 single base substitution T C synonymous_variant Y309Y 927T>C SKCA-BR 8 26221331 26221331 single base substitution T C synonymous_variant Y78Y 234T>C SKCA-BR 8 26221331 26221331 single base substitution T C upstream_gene_variant SKCA-BR 8 26221939 26221939 single base substitution C T downstream_gene_variant SKCA-BR 8 26221939 26221939 single base substitution C T intron_variant SKCA-BR 8 26221939 26221939 single base substitution C T upstream_gene_variant SKCA-BR 8 26229816 26229816 single base substitution T C 3_prime_UTR_variant SKCA-BR 8 26229816 26229816 single base substitution T C downstream_gene_variant SKCA-BR 8 26234088 26234088 single base substitution C T downstream_gene_variant SKCA-BR 8 26234090 26234090 single base substitution T C downstream_gene_variant SKCA-BR 8 26234170 26234170 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 8 26235092 26235092 single base substitution T A downstream_gene_variant SKCM-US 8 26196487 26196487 single base substitution T C 3_prime_UTR_variant SKCM-US 8 26196487 26196487 single base substitution T C 5_prime_UTR_variant SKCM-US 8 26196487 26196487 single base substitution T C exon_variant SKCM-US 8 26196487 26196487 single base substitution T C intron_variant SKCM-US 8 26196487 26196487 single base substitution T C missense_variant F55S 164T>C SKCM-US 8 26196487 26196487 single base substitution T C missense_variant F65S 194T>C SKCM-US 8 26196487 26196487 single base substitution T C upstream_gene_variant SKCM-US 8 26212087 26212087 single base substitution A T 3_prime_UTR_variant SKCM-US 8 26212087 26212087 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 8 26212087 26212087 single base substitution A T downstream_gene_variant SKCM-US 8 26212087 26212087 single base substitution A T exon_variant SKCM-US 8 26212087 26212087 single base substitution A T intron_variant SKCM-US 8 26212087 26212087 single base substitution A T missense_variant K105M 314A>T SKCM-US 8 26212087 26212087 single base substitution A T missense_variant K95M 284A>T SKCM-US 8 26218498 26218498 single base substitution C T 3_prime_UTR_variant SKCM-US 8 26218498 26218498 single base substitution C T 5_prime_UTR_variant SKCM-US 8 26218498 26218498 single base substitution C T downstream_gene_variant SKCM-US 8 26218498 26218498 single base substitution C T exon_variant SKCM-US 8 26218498 26218498 single base substitution C T intron_variant SKCM-US 8 26218498 26218498 single base substitution C T synonymous_variant V156V 468C>T SKCM-US 8 26218498 26218498 single base substitution C T synonymous_variant V166V 498C>T SKCM-US 8 26218498 26218498 single base substitution C T upstream_gene_variant SKCM-US 8 26221279 26221279 single base substitution C T downstream_gene_variant SKCM-US 8 26221279 26221279 single base substitution C T exon_variant SKCM-US 8 26221279 26221279 single base substitution C T missense_variant S282F 845C>T SKCM-US 8 26221279 26221279 single base substitution C T missense_variant S292F 875C>T SKCM-US 8 26221279 26221279 single base substitution C T missense_variant S61F 182C>T SKCM-US 8 26221279 26221279 single base substitution C T upstream_gene_variant SKCM-US 8 26221326 26221326 single base substitution C T downstream_gene_variant SKCM-US 8 26221326 26221326 single base substitution C T exon_variant SKCM-US 8 26221326 26221326 single base substitution C T stop_gained R298* 892C>T SKCM-US 8 26221326 26221326 single base substitution C T stop_gained R308* 922C>T SKCM-US 8 26221326 26221326 single base substitution C T stop_gained R77* 229C>T SKCM-US 8 26221326 26221326 single base substitution C T upstream_gene_variant SKCM-US 8 26223885 26223885 single base substitution T G exon_variant SKCM-US 8 26223885 26223885 single base substitution T G missense_variant F122V 364T>G SKCM-US 8 26223885 26223885 single base substitution T G missense_variant F343V 1027T>G SKCM-US 8 26223885 26223885 single base substitution T G missense_variant F353V 1057T>G SKCM-US 8 26227663 26227663 single base substitution G A exon_variant SKCM-US 8 26227663 26227663 single base substitution G A missense_variant G139R 415G>A SKCM-US 8 26227663 26227663 single base substitution G A missense_variant G360R 1078G>A SKCM-US 8 26227663 26227663 single base substitution G A missense_variant G370R 1108G>A STAD-US 8 26218507 26218507 single base substitution T C 3_prime_UTR_variant STAD-US 8 26218507 26218507 single base substitution T C 5_prime_UTR_variant STAD-US 8 26218507 26218507 single base substitution T C downstream_gene_variant STAD-US 8 26218507 26218507 single base substitution T C exon_variant STAD-US 8 26218507 26218507 single base substitution T C intron_variant STAD-US 8 26218507 26218507 single base substitution T C synonymous_variant P159P 477T>C STAD-US 8 26218507 26218507 single base substitution T C synonymous_variant P169P 507T>C STAD-US 8 26218507 26218507 single base substitution T C upstream_gene_variant STAD-US 8 26220238 26220238 single base substitution A C downstream_gene_variant STAD-US 8 26220238 26220238 single base substitution A C exon_variant STAD-US 8 26220238 26220238 single base substitution A C missense_variant T226P 676A>C STAD-US 8 26220238 26220238 single base substitution A C missense_variant T236P 706A>C STAD-US 8 26220238 26220238 single base substitution A C missense_variant T5P 13A>C STAD-US 8 26220238 26220238 single base substitution A C upstream_gene_variant STAD-US 8 26221281 26221281 single base substitution G A downstream_gene_variant STAD-US 8 26221281 26221281 single base substitution G A exon_variant STAD-US 8 26221281 26221281 single base substitution G A missense_variant E283K 847G>A STAD-US 8 26221281 26221281 single base substitution G A missense_variant E293K 877G>A STAD-US 8 26221281 26221281 single base substitution G A missense_variant E62K 184G>A STAD-US 8 26221281 26221281 single base substitution G A upstream_gene_variant STAD-US 8 26221361 26221361 single base substitution A T downstream_gene_variant STAD-US 8 26221361 26221361 single base substitution A T exon_variant STAD-US 8 26221361 26221361 single base substitution A T missense_variant K309N 927A>T STAD-US 8 26221361 26221361 single base substitution A T missense_variant K319N 957A>T STAD-US 8 26221361 26221361 single base substitution A T missense_variant K88N 264A>T STAD-US 8 26221361 26221361 single base substitution A T upstream_gene_variant STAD-US 8 26227693 26227693 single base substitution G C exon_variant STAD-US 8 26227693 26227693 single base substitution G C missense_variant D149H 445G>C STAD-US 8 26227693 26227693 single base substitution G C missense_variant D370H 1108G>C STAD-US 8 26227693 26227693 single base substitution G C missense_variant D380H 1138G>C STAD-US 8 26227792 26227792 single base substitution C T exon_variant STAD-US 8 26227792 26227792 single base substitution C T stop_gained R182* 544C>T STAD-US 8 26227792 26227792 single base substitution C T stop_gained R403* 1207C>T STAD-US 8 26227792 26227792 single base substitution C T stop_gained R413* 1237C>T STAD-US 8 26227921 26227921 single base substitution G A downstream_gene_variant STAD-US 8 26227921 26227921 single base substitution G A exon_variant STAD-US 8 26227921 26227921 single base substitution G A missense_variant V446M 1336G>A STAD-US 8 26227921 26227921 single base substitution G A missense_variant V456M 1366G>A UCEC-US 8 26196414 26196414 single base substitution A C 3_prime_UTR_variant UCEC-US 8 26196414 26196414 single base substitution A C 5_prime_UTR_variant UCEC-US 8 26196414 26196414 single base substitution A C exon_variant UCEC-US 8 26196414 26196414 single base substitution A C intron_variant UCEC-US 8 26196414 26196414 single base substitution A C missense_variant I31L 91A>C UCEC-US 8 26196414 26196414 single base substitution A C missense_variant I41L 121A>C UCEC-US 8 26196414 26196414 single base substitution A C upstream_gene_variant UCEC-US 8 26196503 26196503 single base substitution G T intron_variant UCEC-US 8 26196503 26196503 single base substitution G T missense_variant E60D 180G>T UCEC-US 8 26196503 26196503 single base substitution G T missense_variant E70D 210G>T UCEC-US 8 26196503 26196503 single base substitution G T splice_region_variant UCEC-US 8 26196503 26196503 single base substitution G T upstream_gene_variant UCEC-US 8 26218493 26218493 single base substitution C T 3_prime_UTR_variant UCEC-US 8 26218493 26218493 single base substitution C T 5_prime_UTR_variant UCEC-US 8 26218493 26218493 single base substitution C T downstream_gene_variant UCEC-US 8 26218493 26218493 single base substitution C T exon_variant UCEC-US 8 26218493 26218493 single base substitution C T intron_variant UCEC-US 8 26218493 26218493 single base substitution C T missense_variant P155S 463C>T UCEC-US 8 26218493 26218493 single base substitution C T missense_variant P165S 493C>T UCEC-US 8 26218493 26218493 single base substitution C T upstream_gene_variant UCEC-US 8 26218536 26218536 single base substitution G A downstream_gene_variant UCEC-US 8 26218536 26218536 single base substitution G A exon_variant UCEC-US 8 26218536 26218536 single base substitution G A intron_variant UCEC-US 8 26218536 26218536 single base substitution G A missense_variant R10Q 29G>A UCEC-US 8 26218536 26218536 single base substitution G A missense_variant R169Q 506G>A UCEC-US 8 26218536 26218536 single base substitution G A missense_variant R179Q 536G>A UCEC-US 8 26218536 26218536 single base substitution G A upstream_gene_variant UCEC-US 8 26220316 26220316 single base substitution C T downstream_gene_variant UCEC-US 8 26220316 26220316 single base substitution C T exon_variant UCEC-US 8 26220316 26220316 single base substitution C T missense_variant R252W 754C>T UCEC-US 8 26220316 26220316 single base substitution C T missense_variant R262W 784C>T UCEC-US 8 26220316 26220316 single base substitution C T missense_variant R31W 91C>T UCEC-US 8 26220316 26220316 single base substitution C T upstream_gene_variant UCEC-US 8 26220317 26220317 single base substitution G A downstream_gene_variant UCEC-US 8 26220317 26220317 single base substitution G A exon_variant UCEC-US 8 26220317 26220317 single base substitution G A missense_variant R252Q 755G>A UCEC-US 8 26220317 26220317 single base substitution G A missense_variant R262Q 785G>A UCEC-US 8 26220317 26220317 single base substitution G A missense_variant R31Q 92G>A UCEC-US 8 26220317 26220317 single base substitution G A upstream_gene_variant UCEC-US 8 26221239 26221239 single base substitution T C downstream_gene_variant UCEC-US 8 26221239 26221239 single base substitution T C exon_variant UCEC-US 8 26221239 26221239 single base substitution T C missense_variant F269L 805T>C UCEC-US 8 26221239 26221239 single base substitution T C missense_variant F279L 835T>C UCEC-US 8 26221239 26221239 single base substitution T C missense_variant F48L 142T>C UCEC-US 8 26221239 26221239 single base substitution T C splice_region_variant UCEC-US 8 26221239 26221239 single base substitution T C upstream_gene_variant UCEC-US 8 26221327 26221327 single base substitution G A downstream_gene_variant UCEC-US 8 26221327 26221327 single base substitution G A exon_variant UCEC-US 8 26221327 26221327 single base substitution G A missense_variant R298Q 893G>A UCEC-US 8 26221327 26221327 single base substitution G A missense_variant R308Q 923G>A UCEC-US 8 26221327 26221327 single base substitution G A missense_variant R77Q 230G>A UCEC-US 8 26221327 26221327 single base substitution G A upstream_gene_variant UCEC-US 8 26221334 26221334 single base substitution G A downstream_gene_variant UCEC-US 8 26221334 26221334 single base substitution G A exon_variant UCEC-US 8 26221334 26221334 single base substitution G A missense_variant M300I 900G>A UCEC-US 8 26221334 26221334 single base substitution G A missense_variant M310I 930G>A UCEC-US 8 26221334 26221334 single base substitution G A missense_variant M79I 237G>A UCEC-US 8 26221334 26221334 single base substitution G A upstream_gene_variant UCEC-US 8 26223851 26223851 single base substitution T C exon_variant UCEC-US 8 26223851 26223851 single base substitution T C synonymous_variant S110S 330T>C UCEC-US 8 26223851 26223851 single base substitution T C synonymous_variant S331S 993T>C UCEC-US 8 26223851 26223851 single base substitution T C synonymous_variant S341S 1023T>C UCEC-US 8 26227857 26227857 single base substitution G A downstream_gene_variant UCEC-US 8 26227857 26227857 single base substitution G A exon_variant UCEC-US 8 26227857 26227857 single base substitution G A stop_gained W424* 1272G>A UCEC-US 8 26227857 26227857 single base substitution G A stop_gained W434* 1302G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PD2218a COSM30521 c.751A>G p.I251V Substitution - Missense 8:26362797-26362797 + TCGA-24-1552-01 COSM72274 c.1268C>T p.A423V Substitution - Missense 8:26370337-26370337 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.146339 8p21.2 604941

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.S89G c.265A>G 8 26212038 LUAD CA TT Missense p.S289F c.866_867delinsTT 8 26221270 CM C T 3-UTRSNV . c.1371+88C>T 8 26228014 CM C T Missense p.A433V c.1298C>T 8 26227853 OV C T Missense p.P178S c.532C>T 8 26218532 LUSC C T Nonsense p.R308* c.922C>T 8 26221326 CM C T Synonymous p.F425F c.1275C>T 8 26227830 STAD C T Synonymous p.I134I c.402C>T 8 26217710 CM C T Synonymous p.I295I c.885C>T 8 26221289 BRCA C T Synonymous p.L449L c.1345C>T 8 26227900 BLCA C T Synonymous p.V166V c.498C>T 8 26218498 CM G A Missense p.E348K c.1042G>A 8 26223870 LUAD G A Missense p.M266I c.798G>A 8 26220330 LUAD G A Nonsense p.W434* c.1302G>A 8 26227857 UCEC G T Missense p.G143V c.428G>T 8 26217736 RCCC T A Missense p.V367D c.1100T>A 8 26227655 BRCA T C Missense p.F65S c.194T>C 8 26196487 CM T C Missense p.I195T c.584T>C 8 26218584 BRCA T C Synonymous p.S341S c.1023T>C 8 26223851 UCEC