Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 170591886 170591886 + Missense_Mutation SNP C C T TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr2:170591886C>T c.362C>T c.(361-363)tCa>tTa p.S121L BLCA 2 170592181 170592181 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr2:170592181C>G c.657C>G c.(655-657)ctC>ctG p.L219L BLCA 2 170592592 170592592 + Silent SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr2:170592592C>G c.1068C>G c.(1066-1068)ctC>ctG p.L356L BLCA 2 170592674 170592674 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 g.chr2:170592674G>A c.1150G>A c.(1150-1152)Gaa>Aaa p.E384K BLCA 2 170597983 170597983 + Missense_Mutation SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr2:170597983C>A c.1302C>A c.(1300-1302)gaC>gaA p.D434E BLCA 2 170606109 170606109 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr2:170606109G>T c.1544G>T c.(1543-1545)gGa>gTa p.G515V BLCA 2 170606147 170606147 + Missense_Mutation SNP G G C TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr2:170606147G>C c.1582G>C c.(1582-1584)Gag>Cag p.E528Q BRCA 2 170592167 170592167 + Missense_Mutation SNP C C G TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 g.chr2:170592167C>G c.643C>G c.(643-645)Cga>Gga p.R215G BRCA 2 170592266 170592266 + Missense_Mutation SNP A A C TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 g.chr2:170592266A>C c.742A>C c.(742-744)Acc>Ccc p.T248P BRCA 2 170592338 170592338 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr2:170592338A>C c.814A>C c.(814-816)Aca>Cca p.T272P BRCA 2 170592537 170592537 + Missense_Mutation SNP C C A TCGA-LL-A5YP-01A-21D-A28B-09 TCGA-LL-A5YP-10A-01D-A28E-09 g.chr2:170592537C>A c.1013C>A c.(1012-1014)aCa>aAa p.T338K BRCA 2 170592607 170592607 + Silent SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr2:170592607C>T c.1083C>T c.(1081-1083)taC>taT p.Y361Y CESC 2 170591825 170591825 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr2:170591825G>C c.301G>C c.(301-303)Gaa>Caa p.E101Q CESC 2 170592188 170592188 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr2:170592188C>T c.664C>T c.(664-666)Cta>Tta p.L222L COAD 2 170591635 170591635 + Silent SNP T T C TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr2:170591635T>C c.111T>C c.(109-111)gaT>gaC p.D37D COAD 2 170591907 170591907 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:170591907G>A c.383G>A c.(382-384)cGg>cAg p.R128Q COAD 2 170592003 170592003 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:170592003G>T c.479G>T c.(478-480)aGa>aTa p.R160I COAD 2 170592044 170592044 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:170592044G>T c.520G>T c.(520-522)Gaa>Taa p.E174* COAD 2 170592269 170592269 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:170592269G>A c.745G>A c.(745-747)Gaa>Aaa p.E249K COAD 2 170592688 170592688 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:170592688C>A c.1164C>A c.(1162-1164)ttC>ttA p.F388L COAD 2 170605954 170605954 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:170605954G>A c.1389G>A c.(1387-1389)ccG>ccA p.P463P COAD 2 170606039 170606039 + Missense_Mutation SNP G G T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr2:170606039G>T c.1474G>T c.(1474-1476)Gct>Tct p.A492S COAD 2 170606126 170606126 + Nonsense_Mutation SNP G G T TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr2:170606126G>T c.1561G>T c.(1561-1563)Gga>Tga p.G521* COADREAD 2 170591635 170591635 + Silent SNP T T C TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr2:170591635T>C c.111T>C c.(109-111)gaT>gaC p.D37D COADREAD 2 170591907 170591907 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:170591907G>A c.383G>A c.(382-384)cGg>cAg p.R128Q COADREAD 2 170592003 170592003 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:170592003G>T c.479G>T c.(478-480)aGa>aTa p.R160I COADREAD 2 170592044 170592044 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:170592044G>T c.520G>T c.(520-522)Gaa>Taa p.E174* COADREAD 2 170592252 170592252 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:170592252G>T c.728G>T c.(727-729)aGa>aTa p.R243I COADREAD 2 170592269 170592269 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:170592269G>A c.745G>A c.(745-747)Gaa>Aaa p.E249K COADREAD 2 170592587 170592587 + Missense_Mutation SNP A A G TCGA-AH-6544-01A-11D-1826-10 TCGA-AH-6544-10A-01D-1826-10 g.chr2:170592587A>G c.1063A>G c.(1063-1065)Atg>Gtg p.M355V COADREAD 2 170592688 170592688 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:170592688C>A c.1164C>A c.(1162-1164)ttC>ttA p.F388L COADREAD 2 170605954 170605954 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:170605954G>A c.1389G>A c.(1387-1389)ccG>ccA p.P463P COADREAD 2 170606039 170606039 + Missense_Mutation SNP G G T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr2:170606039G>T c.1474G>T c.(1474-1476)Gct>Tct p.A492S COADREAD 2 170606126 170606126 + Nonsense_Mutation SNP G G T TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr2:170606126G>T c.1561G>T c.(1561-1563)Gga>Tga p.G521* ESCA 2 170591713 170591713 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr2:170591713G>T c.189G>T c.(187-189)aaG>aaT p.K63N ESCA 2 170591806 170591806 + Nonsense_Mutation SNP T T A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 g.chr2:170591806T>A c.282T>A c.(280-282)taT>taA p.Y94* ESCA 2 170592266 170592266 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr2:170592266A>T c.742A>T c.(742-744)Acc>Tcc p.T248S ESCA 2 170592353 170592353 + Missense_Mutation SNP A A T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 g.chr2:170592353A>T c.829A>T c.(829-831)Ata>Tta p.I277L GBMLGG 2 170592131 170592131 + Missense_Mutation SNP C C A TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 g.chr2:170592131C>A c.607C>A c.(607-609)Cca>Aca p.P203T HNSC 2 170591601 170591601 + Missense_Mutation SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 g.chr2:170591601T>C c.77T>C c.(76-78)tTc>tCc p.F26S HNSC 2 170592202 170592202 + Missense_Mutation SNP C C G TCGA-CQ-5326-01A-01D-1870-08 TCGA-CQ-5326-10A-01D-1870-08 g.chr2:170592202C>G c.678C>G c.(676-678)atC>atG p.I226M HNSC 2 170592711 170592711 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 g.chr2:170592711G>T c.1187G>T c.(1186-1188)tGg>tTg p.W396L HNSC 2 170598005 170598005 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 g.chr2:170598005G>A c.1324G>A c.(1324-1326)Gat>Aat p.D442N HNSC 2 170598008 170598008 + Missense_Mutation SNP A A G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr2:170598008A>G c.1327A>G c.(1327-1329)Atc>Gtc p.I443V KIPAN 2 170592248 170592248 + Nonsense_Mutation SNP C C T TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr2:170592248C>T c.724C>T c.(724-726)Caa>Taa p.Q242* KIRP 2 170592248 170592248 + Nonsense_Mutation SNP C C T TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr2:170592248C>T c.724C>T c.(724-726)Caa>Taa p.Q242* LGG 2 170592131 170592131 + Missense_Mutation SNP C C A TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 g.chr2:170592131C>A c.607C>A c.(607-609)Cca>Aca p.P203T LIHC 2 170592146 170592146 + Missense_Mutation SNP A A G TCGA-CC-A8HV-01A-11D-A35Z-10 TCGA-CC-A8HV-10A-01D-A35Z-10 g.chr2:170592146A>G c.622A>G c.(622-624)Act>Gct p.T208A LIHC 2 170592618 170592618 + Missense_Mutation SNP T T C TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr2:170592618T>C c.1094T>C c.(1093-1095)gTc>gCc p.V365A LIHC 2 170597991 170597991 + Missense_Mutation SNP A A G TCGA-DD-AADM-01A-11D-A40R-10 TCGA-DD-AADM-10A-01D-A40U-10 g.chr2:170597991A>G c.1310A>G c.(1309-1311)cAg>cGg p.Q437R LIHC 2 170598012 170598012 + Missense_Mutation SNP A A G TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr2:170598012A>G c.1331A>G c.(1330-1332)aAc>aGc p.N444S LUAD 2 170591661 170591661 + Missense_Mutation SNP T T G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 g.chr2:170591661T>G c.137T>G c.(136-138)aTa>aGa p.I46R LUAD 2 170591670 170591670 + Missense_Mutation SNP A A G TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr2:170591670A>G c.146A>G c.(145-147)cAt>cGt p.H49R LUAD 2 170592214 170592214 + Missense_Mutation SNP A A G TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr2:170592214A>G c.690A>G c.(688-690)atA>atG p.I230M LUAD 2 170592412 170592412 + Silent SNP A A T TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr2:170592412A>T c.888A>T c.(886-888)acA>acT p.T296T LUAD 2 170597930 170597930 + Missense_Mutation SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr2:170597930G>T c.1249G>T c.(1249-1251)Gtt>Ttt p.V417F LUAD 2 170606185 170606185 + Silent SNP G G C TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr2:170606185G>C c.1620G>C c.(1618-1620)gtG>gtC p.V540V LUSC 2 170591838 170591838 + Missense_Mutation SNP G G T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 g.chr2:170591838G>T c.314G>T c.(313-315)aGa>aTa p.R105I LUSC 2 170592599 170592599 + Missense_Mutation SNP A A T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr2:170592599A>T c.1075A>T c.(1075-1077)Agg>Tgg p.R359W LUSC 2 170592730 170592730 + Missense_Mutation SNP G G C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr2:170592730G>C c.1206G>C c.(1204-1206)atG>atC p.M402I PAAD 2 170606212 170606212 + Silent SNP T T A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:170606212T>A c.1647T>A c.(1645-1647)tcT>tcA p.S549S PCPG 2 170591547 170591547 + Missense_Mutation SNP A A C TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 g.chr2:170591547A>C c.23A>C c.(22-24)gAt>gCt p.D8A PCPG 2 170606207 170606207 + Missense_Mutation SNP C C T TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 g.chr2:170606207C>T c.1642C>T c.(1642-1644)Cgg>Tgg p.R548W PRAD 2 170592130 170592130 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:170592130G>A c.606G>A c.(604-606)gaG>gaA p.E202E READ 2 170592252 170592252 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:170592252G>T c.728G>T c.(727-729)aGa>aTa p.R243I READ 2 170592587 170592587 + Missense_Mutation SNP A A G TCGA-AH-6544-01A-11D-1826-10 TCGA-AH-6544-10A-01D-1826-10 g.chr2:170592587A>G c.1063A>G c.(1063-1065)Atg>Gtg p.M355V SKCM 2 170591665 170591665 + Missense_Mutation SNP T T G TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr2:170591665T>G c.141T>G c.(139-141)atT>atG p.I47M SKCM 2 170591666 170591666 + Missense_Mutation SNP T T C TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr2:170591666T>C c.142T>C c.(142-144)Ttc>Ctc p.F48L SKCM 2 170591668 170591668 + Missense_Mutation SNP C C A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:170591668C>A c.144C>A c.(142-144)ttC>ttA p.F48L SKCM 2 170591984 170591996 + Frame_Shift_Del DEL CTAGAGAAGGAAT CTAGAGAAGGAAT - TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 g.chr2:170591984_170591996delCTAGAGAAGGAAT c.460_472delCTAGAGAAGGAAT c.(460-474)ctagagaaggaatctfs p.LEKES154fs SKCM 2 170592141 170592141 + Missense_Mutation SNP A A G TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr2:170592141A>G c.617A>G c.(616-618)aAg>aGg p.K206R SKCM 2 170592400 170592400 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr2:170592400G>A c.876G>A c.(874-876)tgG>tgA p.W292* SKCM 2 170592455 170592455 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 g.chr2:170592455G>A c.931G>A c.(931-933)Gag>Aag p.E311K SKCM 2 170592479 170592479 + Missense_Mutation SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr2:170592479G>A c.955G>A c.(955-957)Gga>Aga p.G319R SKCM 2 170592502 170592502 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr2:170592502G>A c.978G>A c.(976-978)ggG>ggA p.G326G

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 2 170557854 170557854 single base substitution C T intron_variant BLCA-US 2 170606109 170606109 single base substitution G T downstream_gene_variant BLCA-US 2 170606109 170606109 single base substitution G T intron_variant BLCA-US 2 170606109 170606109 single base substitution G T missense_variant G22V 65G>T BLCA-US 2 170606109 170606109 single base substitution G T missense_variant G515V 1544G>T BRCA-EU 2 170547582 170547582 single base substitution C T upstream_gene_variant BRCA-EU 2 170547970 170547970 insertion of <=200bp - G upstream_gene_variant BRCA-EU 2 170550830 170550830 single base substitution G A upstream_gene_variant BRCA-EU 2 170551269 170551269 single base substitution G A intron_variant BRCA-EU 2 170551269 170551269 single base substitution G A upstream_gene_variant BRCA-EU 2 170551358 170551358 single base substitution C G intron_variant BRCA-EU 2 170551358 170551358 single base substitution C G upstream_gene_variant BRCA-EU 2 170553529 170553529 single base substitution A T intron_variant BRCA-EU 2 170553529 170553529 single base substitution A T upstream_gene_variant BRCA-EU 2 170554922 170554922 single base substitution C G intron_variant BRCA-EU 2 170555330 170555330 single base substitution G C intron_variant BRCA-EU 2 170557544 170557544 single base substitution G T intron_variant BRCA-EU 2 170559572 170559572 single base substitution G C intron_variant BRCA-EU 2 170560049 170560049 insertion of <=200bp - G intron_variant BRCA-EU 2 170561536 170561536 single base substitution C T intron_variant BRCA-EU 2 170561723 170561723 deletion of <=200bp A - intron_variant BRCA-EU 2 170562489 170562489 single base substitution A C intron_variant BRCA-EU 2 170564504 170564504 single base substitution G A intron_variant BRCA-EU 2 170564509 170564509 single base substitution T C intron_variant BRCA-EU 2 170566945 170566945 single base substitution C G intron_variant BRCA-EU 2 170567379 170567379 single base substitution G C intron_variant BRCA-EU 2 170568933 170568933 single base substitution C G intron_variant BRCA-EU 2 170569961 170569961 single base substitution C T intron_variant BRCA-EU 2 170571539 170571539 single base substitution C G intron_variant BRCA-EU 2 170571542 170571542 single base substitution G C intron_variant BRCA-EU 2 170572203 170572203 single base substitution A G intron_variant BRCA-EU 2 170573887 170573887 single base substitution C G intron_variant BRCA-EU 2 170576038 170576038 single base substitution G A intron_variant BRCA-EU 2 170576186 170576186 single base substitution C G intron_variant BRCA-EU 2 170576215 170576215 deletion of <=200bp C - intron_variant BRCA-EU 2 170577322 170577322 single base substitution G T intron_variant BRCA-EU 2 170577412 170577412 deletion of <=200bp T - intron_variant BRCA-EU 2 170579420 170579420 single base substitution C T intron_variant BRCA-EU 2 170581159 170581159 deletion of <=200bp G - intron_variant BRCA-EU 2 170582252 170582252 single base substitution C G intron_variant BRCA-EU 2 170584156 170584156 single base substitution T C intron_variant BRCA-EU 2 170585254 170585254 deletion of <=200bp T - intron_variant BRCA-EU 2 170586409 170586409 single base substitution C T intron_variant BRCA-EU 2 170586409 170586409 single base substitution C T upstream_gene_variant BRCA-EU 2 170590249 170590249 single base substitution G A intron_variant BRCA-EU 2 170590249 170590249 single base substitution G A upstream_gene_variant BRCA-EU 2 170590997 170590997 single base substitution C A intron_variant BRCA-EU 2 170590997 170590997 single base substitution C A upstream_gene_variant BRCA-EU 2 170593707 170593707 single base substitution G C intron_variant BRCA-EU 2 170593707 170593707 single base substitution G C upstream_gene_variant BRCA-EU 2 170593811 170593811 single base substitution G A intron_variant BRCA-EU 2 170593811 170593811 single base substitution G A upstream_gene_variant BRCA-EU 2 170598066 170598066 single base substitution C A intron_variant BRCA-EU 2 170598191 170598191 single base substitution A G intron_variant BRCA-EU 2 170599803 170599803 single base substitution C G intron_variant BRCA-EU 2 170599828 170599828 single base substitution T A intron_variant BRCA-EU 2 170600206 170600206 single base substitution C A intron_variant BRCA-EU 2 170600390 170600390 single base substitution C G intron_variant BRCA-EU 2 170601239 170601239 single base substitution T C intron_variant BRCA-EU 2 170601598 170601598 deletion of <=200bp T - intron_variant BRCA-EU 2 170602834 170602834 single base substitution C G intron_variant BRCA-EU 2 170604416 170604416 single base substitution C T intron_variant BRCA-EU 2 170604798 170604798 single base substitution A G intron_variant BRCA-EU 2 170605897 170605897 insertion of <=200bp - A intron_variant BRCA-EU 2 170613300 170613300 single base substitution G C downstream_gene_variant BRCA-EU 2 170613300 170613300 single base substitution G C intron_variant BRCA-EU 2 170613352 170613352 single base substitution C T downstream_gene_variant BRCA-EU 2 170613352 170613352 single base substitution C T intron_variant BRCA-EU 2 170613846 170613846 single base substitution T C intron_variant BRCA-EU 2 170614726 170614726 single base substitution G T intron_variant BRCA-EU 2 170615725 170615725 single base substitution G A intron_variant BRCA-EU 2 170617987 170617987 single base substitution G A intron_variant BRCA-EU 2 170618011 170618011 single base substitution C A intron_variant BRCA-EU 2 170618227 170618227 single base substitution C T intron_variant BRCA-EU 2 170619951 170619951 single base substitution T C intron_variant BRCA-EU 2 170623274 170623274 single base substitution T C intron_variant BRCA-EU 2 170623878 170623878 single base substitution A G intron_variant BRCA-EU 2 170624161 170624161 single base substitution A C intron_variant BRCA-EU 2 170624787 170624787 single base substitution G A intron_variant BRCA-EU 2 170625173 170625173 single base substitution G T intron_variant BRCA-EU 2 170625620 170625620 single base substitution T C intron_variant BRCA-EU 2 170626501 170626501 single base substitution G C intron_variant BRCA-EU 2 170627682 170627682 single base substitution T G intron_variant BRCA-EU 2 170628451 170628451 single base substitution T C intron_variant BRCA-EU 2 170628906 170628906 single base substitution A G intron_variant BRCA-EU 2 170629118 170629118 single base substitution C G intron_variant BRCA-EU 2 170630526 170630526 single base substitution C A downstream_gene_variant BRCA-EU 2 170630526 170630526 single base substitution C A intron_variant BRCA-EU 2 170631544 170631544 single base substitution G T downstream_gene_variant BRCA-EU 2 170631544 170631544 single base substitution G T intron_variant BRCA-EU 2 170631605 170631605 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 170631605 170631605 deletion of <=200bp T - intron_variant BRCA-EU 2 170631909 170631909 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 170631909 170631909 insertion of <=200bp - A intron_variant BRCA-EU 2 170634098 170634098 single base substitution C T downstream_gene_variant BRCA-EU 2 170634330 170634330 single base substitution G C downstream_gene_variant BRCA-EU 2 170634475 170634475 single base substitution C G downstream_gene_variant BRCA-EU 2 170634552 170634552 single base substitution A G downstream_gene_variant BRCA-EU 2 170635076 170635076 single base substitution T G downstream_gene_variant BRCA-EU 2 170636404 170636404 single base substitution G C downstream_gene_variant BRCA-EU 2 170636869 170636869 single base substitution C T downstream_gene_variant BRCA-EU 2 170637890 170637890 single base substitution C A downstream_gene_variant BRCA-EU 2 170638243 170638243 single base substitution G T downstream_gene_variant BRCA-FR 2 170549552 170549552 single base substitution G A upstream_gene_variant BRCA-FR 2 170550652 170550652 single base substitution C A upstream_gene_variant BRCA-FR 2 170551358 170551358 single base substitution C G intron_variant BRCA-FR 2 170551358 170551358 single base substitution C G upstream_gene_variant BRCA-FR 2 170564504 170564504 single base substitution G A intron_variant BRCA-FR 2 170571539 170571539 single base substitution C G intron_variant BRCA-FR 2 170583973 170583973 single base substitution G A intron_variant BRCA-FR 2 170590249 170590249 single base substitution G A intron_variant BRCA-FR 2 170590249 170590249 single base substitution G A upstream_gene_variant BRCA-FR 2 170593707 170593707 single base substitution G C intron_variant BRCA-FR 2 170593707 170593707 single base substitution G C upstream_gene_variant BRCA-FR 2 170598066 170598066 single base substitution C A intron_variant BRCA-FR 2 170603885 170603885 single base substitution C T intron_variant BRCA-FR 2 170609275 170609275 single base substitution G A downstream_gene_variant BRCA-FR 2 170609275 170609275 single base substitution G A intron_variant BRCA-FR 2 170615725 170615725 single base substitution G A intron_variant BRCA-FR 2 170621082 170621082 single base substitution G A intron_variant BRCA-FR 2 170626501 170626501 single base substitution G C intron_variant BRCA-FR 2 170626856 170626856 single base substitution T A intron_variant BRCA-UK 2 170557571 170557571 single base substitution G A intron_variant BRCA-UK 2 170591766 170591766 single base substitution C T intron_variant BRCA-UK 2 170591766 170591766 single base substitution C T missense_variant S81F 242C>T BRCA-UK 2 170591766 170591766 single base substitution C T upstream_gene_variant BRCA-US 2 170557587 170557587 single base substitution C T intron_variant BRCA-US 2 170558059 170558059 single base substitution A G intron_variant BRCA-US 2 170592167 170592167 single base substitution C G intron_variant BRCA-US 2 170592167 170592167 single base substitution C G missense_variant R215G 643C>G BRCA-US 2 170592167 170592167 single base substitution C G missense_variant R36G 106C>G BRCA-US 2 170592266 170592266 single base substitution A C intron_variant BRCA-US 2 170592266 170592266 single base substitution A C missense_variant T248P 742A>C BRCA-US 2 170592266 170592266 single base substitution A C missense_variant T69P 205A>C BRCA-US 2 170592338 170592338 single base substitution A C intron_variant BRCA-US 2 170592338 170592338 single base substitution A C missense_variant T272P 814A>C BRCA-US 2 170592338 170592338 single base substitution A C missense_variant T93P 277A>C BRCA-US 2 170592537 170592537 single base substitution C A intron_variant BRCA-US 2 170592537 170592537 single base substitution C A missense_variant T159K 476C>A BRCA-US 2 170592537 170592537 single base substitution C A missense_variant T338K 1013C>A BRCA-US 2 170592537 170592537 single base substitution C A upstream_gene_variant BRCA-US 2 170592607 170592607 single base substitution C T intron_variant BRCA-US 2 170592607 170592607 single base substitution C T synonymous_variant Y182Y 546C>T BRCA-US 2 170592607 170592607 single base substitution C T synonymous_variant Y361Y 1083C>T BRCA-US 2 170592607 170592607 single base substitution C T upstream_gene_variant BTCA-JP 2 170598151 170598151 single base substitution G A intron_variant BTCA-JP 2 170606138 170606138 single base substitution C T downstream_gene_variant BTCA-JP 2 170606138 170606138 single base substitution C T intron_variant BTCA-JP 2 170606138 170606138 single base substitution C T stop_gained Q32* 94C>T BTCA-JP 2 170606138 170606138 single base substitution C T stop_gained Q525* 1573C>T BTCA-JP 2 170606588 170606588 single base substitution A G 3_prime_UTR_variant BTCA-JP 2 170606588 170606588 single base substitution A G downstream_gene_variant BTCA-JP 2 170606588 170606588 single base substitution A G intron_variant BTCA-JP 2 170633048 170633048 deletion of <=200bp C - 3_prime_UTR_variant BTCA-JP 2 170633048 170633048 deletion of <=200bp C - downstream_gene_variant CESC-US 2 170557671 170557671 single base substitution G C intron_variant CESC-US 2 170557827 170557827 single base substitution G C intron_variant CESC-US 2 170591825 170591825 single base substitution G C intron_variant CESC-US 2 170591825 170591825 single base substitution G C missense_variant E101Q 301G>C CESC-US 2 170591825 170591825 single base substitution G C upstream_gene_variant CESC-US 2 170592188 170592188 single base substitution C T intron_variant CESC-US 2 170592188 170592188 single base substitution C T synonymous_variant L222L 664C>T CESC-US 2 170592188 170592188 single base substitution C T synonymous_variant L43L 127C>T CLLE-ES 2 170570730 170570730 single base substitution C G intron_variant CLLE-ES 2 170575161 170575161 single base substitution G A intron_variant CLLE-ES 2 170609608 170609608 insertion of <=200bp - TC downstream_gene_variant CLLE-ES 2 170609608 170609608 insertion of <=200bp - TC intron_variant CLLE-ES 2 170616963 170616963 single base substitution T C intron_variant CLLE-ES 2 170621021 170621021 single base substitution C T intron_variant CLLE-ES 2 170624038 170624038 single base substitution G A intron_variant CLLE-ES 2 170635150 170635150 single base substitution A G downstream_gene_variant COAD-US 2 170558201 170558201 single base substitution G A intron_variant COAD-US 2 170591635 170591635 single base substitution T C intron_variant COAD-US 2 170591635 170591635 single base substitution T C synonymous_variant D37D 111T>C COAD-US 2 170591635 170591635 single base substitution T C upstream_gene_variant COAD-US 2 170591907 170591907 single base substitution G A intron_variant COAD-US 2 170591907 170591907 single base substitution G A missense_variant R128Q 383G>A COAD-US 2 170591907 170591907 single base substitution G A upstream_gene_variant COAD-US 2 170592003 170592003 single base substitution G T intron_variant COAD-US 2 170592003 170592003 single base substitution G T missense_variant R160I 479G>T COAD-US 2 170592003 170592003 single base substitution G T upstream_gene_variant COAD-US 2 170592732 170592732 single base substitution T C intron_variant COAD-US 2 170592732 170592732 single base substitution T C missense_variant I224T 671T>C COAD-US 2 170592732 170592732 single base substitution T C missense_variant I403T 1208T>C COAD-US 2 170592732 170592732 single base substitution T C upstream_gene_variant COCA-CN 2 170557909 170557909 single base substitution C A intron_variant COCA-CN 2 170558231 170558231 single base substitution T C intron_variant COCA-CN 2 170592685 170592685 single base substitution G A intron_variant COCA-CN 2 170592685 170592685 single base substitution G A synonymous_variant E208E 624G>A COCA-CN 2 170592685 170592685 single base substitution G A synonymous_variant E387E 1161G>A COCA-CN 2 170592685 170592685 single base substitution G A upstream_gene_variant COCA-CN 2 170597897 170597897 single base substitution G C exon_variant COCA-CN 2 170597897 170597897 single base substitution G C missense_variant V227L 679G>C COCA-CN 2 170597897 170597897 single base substitution G C missense_variant V406L 1216G>C COCA-CN 2 170597897 170597897 single base substitution G C splice_region_variant COCA-CN 2 170597897 170597897 single base substitution G C upstream_gene_variant COCA-CN 2 170606440 170606440 single base substitution T C 3_prime_UTR_variant COCA-CN 2 170606440 170606440 single base substitution T C downstream_gene_variant COCA-CN 2 170606440 170606440 single base substitution T C intron_variant COCA-CN 2 170606588 170606588 single base substitution A G 3_prime_UTR_variant COCA-CN 2 170606588 170606588 single base substitution A G downstream_gene_variant COCA-CN 2 170606588 170606588 single base substitution A G intron_variant COCA-CN 2 170633001 170633001 single base substitution C T 3_prime_UTR_variant COCA-CN 2 170633001 170633001 single base substitution C T downstream_gene_variant EOPC-DE 2 170550490 170550490 single base substitution C G upstream_gene_variant EOPC-DE 2 170580923 170580923 single base substitution A G intron_variant EOPC-DE 2 170603065 170603065 single base substitution A C intron_variant EOPC-DE 2 170621978 170621978 single base substitution A T intron_variant ESAD-UK 2 170546832 170546832 single base substitution A T upstream_gene_variant ESAD-UK 2 170547808 170547808 single base substitution A G upstream_gene_variant ESAD-UK 2 170547833 170547833 single base substitution C A upstream_gene_variant ESAD-UK 2 170547838 170547838 single base substitution C T upstream_gene_variant ESAD-UK 2 170549003 170549004 deletion of <=200bp AG - upstream_gene_variant ESAD-UK 2 170549206 170549206 single base substitution T G upstream_gene_variant ESAD-UK 2 170549372 170549372 single base substitution T G upstream_gene_variant ESAD-UK 2 170550285 170550285 single base substitution G A upstream_gene_variant ESAD-UK 2 170551003 170551003 single base substitution G C 5_prime_UTR_variant ESAD-UK 2 170551003 170551003 single base substitution G C upstream_gene_variant ESAD-UK 2 170553166 170553166 single base substitution T C intron_variant ESAD-UK 2 170553166 170553166 single base substitution T C upstream_gene_variant ESAD-UK 2 170556255 170556257 deletion of <=200bp GTT - intron_variant ESAD-UK 2 170557420 170557420 single base substitution G A intron_variant ESAD-UK 2 170558832 170558832 single base substitution G A intron_variant ESAD-UK 2 170560479 170560479 single base substitution C G intron_variant ESAD-UK 2 170561750 170561750 single base substitution G C intron_variant ESAD-UK 2 170561773 170561773 single base substitution G A intron_variant ESAD-UK 2 170562272 170562272 single base substitution A T intron_variant ESAD-UK 2 170563352 170563352 single base substitution A T intron_variant ESAD-UK 2 170564475 170564475 single base substitution T G intron_variant ESAD-UK 2 170565101 170565101 single base substitution T C intron_variant ESAD-UK 2 170566522 170566522 single base substitution G C intron_variant ESAD-UK 2 170566565 170566565 single base substitution A C intron_variant ESAD-UK 2 170568041 170568041 single base substitution C A intron_variant ESAD-UK 2 170570323 170570326 deletion of <=200bp TTTG - intron_variant ESAD-UK 2 170571736 170571736 single base substitution C T intron_variant ESAD-UK 2 170574304 170574304 insertion of <=200bp - T intron_variant ESAD-UK 2 170576482 170576482 single base substitution C T intron_variant ESAD-UK 2 170576506 170576506 deletion of <=200bp T - intron_variant ESAD-UK 2 170577385 170577385 single base substitution T C intron_variant ESAD-UK 2 170579286 170579286 single base substitution C T intron_variant ESAD-UK 2 170581108 170581108 single base substitution C A intron_variant ESAD-UK 2 170581206 170581206 single base substitution T G intron_variant ESAD-UK 2 170582892 170582892 insertion of <=200bp - A intron_variant ESAD-UK 2 170583398 170583398 single base substitution A G intron_variant ESAD-UK 2 170583575 170583575 single base substitution C T intron_variant ESAD-UK 2 170591770 170591770 single base substitution C A intron_variant ESAD-UK 2 170591770 170591770 single base substitution C A synonymous_variant G82G 246C>A ESAD-UK 2 170591770 170591770 single base substitution C A upstream_gene_variant ESAD-UK 2 170592200 170592200 single base substitution A G intron_variant ESAD-UK 2 170592200 170592200 single base substitution A G missense_variant I226V 676A>G ESAD-UK 2 170592200 170592200 single base substitution A G missense_variant I47V 139A>G ESAD-UK 2 170593137 170593137 single base substitution G A intron_variant ESAD-UK 2 170593137 170593137 single base substitution G A upstream_gene_variant ESAD-UK 2 170593538 170593538 deletion of <=200bp G - intron_variant ESAD-UK 2 170593538 170593538 deletion of <=200bp G - upstream_gene_variant ESAD-UK 2 170594771 170594771 single base substitution A G intron_variant ESAD-UK 2 170594771 170594771 single base substitution A G upstream_gene_variant ESAD-UK 2 170607461 170607461 single base substitution G T 3_prime_UTR_variant ESAD-UK 2 170607461 170607461 single base substitution G T downstream_gene_variant ESAD-UK 2 170607461 170607461 single base substitution G T intron_variant ESAD-UK 2 170608369 170608369 single base substitution A T 3_prime_UTR_variant ESAD-UK 2 170608369 170608369 single base substitution A T downstream_gene_variant ESAD-UK 2 170608369 170608369 single base substitution A T intron_variant ESAD-UK 2 170608964 170608964 single base substitution A T downstream_gene_variant ESAD-UK 2 170608964 170608964 single base substitution A T intron_variant ESAD-UK 2 170609735 170609735 single base substitution C A downstream_gene_variant ESAD-UK 2 170609735 170609735 single base substitution C A intron_variant ESAD-UK 2 170609813 170609813 single base substitution T G downstream_gene_variant ESAD-UK 2 170609813 170609813 single base substitution T G intron_variant ESAD-UK 2 170610421 170610421 single base substitution C T downstream_gene_variant ESAD-UK 2 170610421 170610421 single base substitution C T intron_variant ESAD-UK 2 170613008 170613008 single base substitution G A downstream_gene_variant ESAD-UK 2 170613008 170613008 single base substitution G A intron_variant ESAD-UK 2 170613328 170613328 single base substitution C T downstream_gene_variant ESAD-UK 2 170613328 170613328 single base substitution C T intron_variant ESAD-UK 2 170614207 170614207 insertion of <=200bp - A intron_variant ESAD-UK 2 170616621 170616621 single base substitution G A intron_variant ESAD-UK 2 170617518 170617518 single base substitution A G intron_variant ESAD-UK 2 170617890 170617890 single base substitution T G intron_variant ESAD-UK 2 170618947 170618947 single base substitution C T intron_variant ESAD-UK 2 170619054 170619056 deletion of <=200bp CTC - intron_variant ESAD-UK 2 170625742 170625742 single base substitution T G intron_variant ESAD-UK 2 170626527 170626527 single base substitution T A intron_variant ESAD-UK 2 170628688 170628688 single base substitution T G intron_variant ESAD-UK 2 170629962 170629962 single base substitution C G downstream_gene_variant ESAD-UK 2 170629962 170629962 single base substitution C G intron_variant ESAD-UK 2 170631507 170631507 insertion of <=200bp - C downstream_gene_variant ESAD-UK 2 170631507 170631507 insertion of <=200bp - C intron_variant ESAD-UK 2 170631634 170631634 single base substitution C T downstream_gene_variant ESAD-UK 2 170631634 170631634 single base substitution C T intron_variant ESAD-UK 2 170631983 170631983 single base substitution C T downstream_gene_variant ESAD-UK 2 170631983 170631983 single base substitution C T intron_variant ESAD-UK 2 170632257 170632257 single base substitution C A downstream_gene_variant ESAD-UK 2 170632257 170632257 single base substitution C A intron_variant ESAD-UK 2 170636600 170636600 single base substitution G A downstream_gene_variant ESAD-UK 2 170636601 170636601 single base substitution C G downstream_gene_variant ESCA-CN 2 170557531 170557531 single base substitution A G intron_variant ESCA-CN 2 170557594 170557594 single base substitution C A intron_variant ESCA-CN 2 170592245 170592245 single base substitution C T intron_variant ESCA-CN 2 170592245 170592245 single base substitution C T missense_variant L241F 721C>T ESCA-CN 2 170592245 170592245 single base substitution C T missense_variant L62F 184C>T ESCA-CN 2 170606444 170606444 single base substitution C T 3_prime_UTR_variant ESCA-CN 2 170606444 170606444 single base substitution C T downstream_gene_variant ESCA-CN 2 170606444 170606444 single base substitution C T intron_variant ESCA-CN 2 170606538 170606538 insertion of <=200bp - AT 3_prime_UTR_variant ESCA-CN 2 170606538 170606538 insertion of <=200bp - AT downstream_gene_variant ESCA-CN 2 170606538 170606538 insertion of <=200bp - AT intron_variant GBM-US 2 170558142 170558142 single base substitution T C intron_variant KIRP-US 2 170557975 170557975 single base substitution T A intron_variant LAML-KR 2 170564551 170564551 single base substitution G T intron_variant LAML-KR 2 170596756 170596756 single base substitution G A intron_variant LAML-KR 2 170596756 170596756 single base substitution G A upstream_gene_variant LAML-KR 2 170615796 170615796 single base substitution G A intron_variant LAML-KR 2 170624221 170624221 single base substitution C T intron_variant LAML-KR 2 170632969 170632969 single base substitution C A downstream_gene_variant LAML-KR 2 170632969 170632969 single base substitution C A missense_variant T21N 62C>A LICA-CN 2 170592273 170592273 single base substitution A G intron_variant LICA-CN 2 170592273 170592273 single base substitution A G missense_variant N250S 749A>G LICA-CN 2 170592273 170592273 single base substitution A G missense_variant N71S 212A>G LICA-CN 2 170592544 170592544 single base substitution G C intron_variant LICA-CN 2 170592544 170592544 single base substitution G C missense_variant W161C 483G>C LICA-CN 2 170592544 170592544 single base substitution G C missense_variant W340C 1020G>C LICA-CN 2 170592544 170592544 single base substitution G C upstream_gene_variant LICA-FR 2 170556602 170556602 single base substitution A C intron_variant LICA-FR 2 170557503 170557503 single base substitution G A intron_variant LICA-FR 2 170559808 170559808 single base substitution G A intron_variant LICA-FR 2 170578885 170578885 single base substitution G A intron_variant LICA-FR 2 170589315 170589315 single base substitution C A intron_variant LICA-FR 2 170589315 170589315 single base substitution C A upstream_gene_variant LICA-FR 2 170616459 170616459 single base substitution G T intron_variant LIHC-US 2 170557709 170557709 single base substitution A T intron_variant LINC-JP 2 170556088 170556088 single base substitution A G intron_variant LINC-JP 2 170557619 170557619 single base substitution A G intron_variant LINC-JP 2 170557965 170557965 single base substitution G C intron_variant LINC-JP 2 170558010 170558010 single base substitution A G intron_variant LINC-JP 2 170573951 170573951 single base substitution G A intron_variant LINC-JP 2 170574501 170574501 single base substitution C A intron_variant LINC-JP 2 170581893 170581893 single base substitution C A intron_variant LINC-JP 2 170588784 170588784 single base substitution A G intron_variant LINC-JP 2 170588784 170588784 single base substitution A G upstream_gene_variant LINC-JP 2 170590216 170590216 single base substitution C A intron_variant LINC-JP 2 170590216 170590216 single base substitution C A upstream_gene_variant LINC-JP 2 170592725 170592725 single base substitution A C intron_variant LINC-JP 2 170592725 170592725 single base substitution A C missense_variant N222H 664A>C LINC-JP 2 170592725 170592725 single base substitution A C missense_variant N401H 1201A>C LINC-JP 2 170592725 170592725 single base substitution A C upstream_gene_variant LINC-JP 2 170605850 170605850 single base substitution A G intron_variant LINC-JP 2 170606190 170606190 single base substitution A G downstream_gene_variant LINC-JP 2 170606190 170606190 single base substitution A G intron_variant LINC-JP 2 170606190 170606190 single base substitution A G missense_variant N49S 146A>G LINC-JP 2 170606190 170606190 single base substitution A G missense_variant N542S 1625A>G LINC-JP 2 170606516 170606516 single base substitution T C 3_prime_UTR_variant LINC-JP 2 170606516 170606516 single base substitution T C downstream_gene_variant LINC-JP 2 170606516 170606516 single base substitution T C intron_variant LINC-JP 2 170606547 170606547 single base substitution A G 3_prime_UTR_variant LINC-JP 2 170606547 170606547 single base substitution A G downstream_gene_variant LINC-JP 2 170606547 170606547 single base substitution A G intron_variant LINC-JP 2 170611029 170611029 single base substitution A G downstream_gene_variant LINC-JP 2 170611029 170611029 single base substitution A G intron_variant LINC-JP 2 170612937 170612937 single base substitution G T downstream_gene_variant LINC-JP 2 170612937 170612937 single base substitution G T intron_variant LINC-JP 2 170616930 170616930 single base substitution T G intron_variant LINC-JP 2 170630847 170630847 single base substitution G A downstream_gene_variant LINC-JP 2 170630847 170630847 single base substitution G A intron_variant LINC-JP 2 170632961 170632961 insertion of <=200bp - A downstream_gene_variant LINC-JP 2 170632961 170632961 insertion of <=200bp - A frameshift_variant T18T? LIRI-JP 2 170546917 170546917 single base substitution T A upstream_gene_variant LIRI-JP 2 170548869 170548869 single base substitution C T upstream_gene_variant LIRI-JP 2 170549699 170549699 single base substitution C T upstream_gene_variant LIRI-JP 2 170551732 170551732 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 2 170551732 170551732 single base substitution A G upstream_gene_variant LIRI-JP 2 170554307 170554307 single base substitution A C intron_variant LIRI-JP 2 170556943 170556943 single base substitution T G intron_variant LIRI-JP 2 170557227 170557227 single base substitution A G intron_variant LIRI-JP 2 170559753 170559753 single base substitution G A intron_variant LIRI-JP 2 170560188 170560191 deletion of <=200bp AATT - intron_variant LIRI-JP 2 170562225 170562225 single base substitution A T intron_variant LIRI-JP 2 170563872 170563872 single base substitution A C intron_variant LIRI-JP 2 170565636 170565636 single base substitution A C intron_variant LIRI-JP 2 170568759 170568759 insertion of <=200bp - T intron_variant LIRI-JP 2 170569717 170569717 single base substitution G A intron_variant LIRI-JP 2 170570445 170570445 single base substitution C G intron_variant LIRI-JP 2 170571156 170571156 single base substitution T C intron_variant LIRI-JP 2 170571943 170571943 single base substitution C T intron_variant LIRI-JP 2 170573880 170573880 single base substitution T C intron_variant LIRI-JP 2 170577210 170577210 single base substitution T C intron_variant LIRI-JP 2 170577392 170577392 single base substitution T C intron_variant LIRI-JP 2 170580631 170580631 single base substitution A T intron_variant LIRI-JP 2 170581753 170581753 single base substitution G A intron_variant LIRI-JP 2 170582935 170582935 single base substitution C T intron_variant LIRI-JP 2 170583113 170583113 single base substitution A G intron_variant LIRI-JP 2 170583815 170583815 single base substitution T C intron_variant LIRI-JP 2 170584075 170584075 single base substitution A T intron_variant LIRI-JP 2 170587022 170587022 single base substitution G A intron_variant LIRI-JP 2 170587022 170587022 single base substitution G A upstream_gene_variant LIRI-JP 2 170588634 170588634 deletion of <=200bp T - intron_variant LIRI-JP 2 170588634 170588634 deletion of <=200bp T - upstream_gene_variant LIRI-JP 2 170590515 170590515 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 2 170590515 170590515 single base substitution A T intron_variant LIRI-JP 2 170590515 170590515 single base substitution A T upstream_gene_variant LIRI-JP 2 170591663 170591663 single base substitution A G intron_variant LIRI-JP 2 170591663 170591663 single base substitution A G missense_variant I47V 139A>G LIRI-JP 2 170591663 170591663 single base substitution A G upstream_gene_variant LIRI-JP 2 170591942 170591942 single base substitution A G intron_variant LIRI-JP 2 170591942 170591942 single base substitution A G missense_variant I140V 418A>G LIRI-JP 2 170591942 170591942 single base substitution A G upstream_gene_variant LIRI-JP 2 170592491 170592491 single base substitution T C intron_variant LIRI-JP 2 170592491 170592491 single base substitution T C missense_variant Y144H 430T>C LIRI-JP 2 170592491 170592491 single base substitution T C missense_variant Y323H 967T>C LIRI-JP 2 170595934 170595934 single base substitution C G intron_variant LIRI-JP 2 170595934 170595934 single base substitution C G upstream_gene_variant LIRI-JP 2 170599649 170599649 single base substitution A T intron_variant LIRI-JP 2 170600672 170600672 insertion of <=200bp - C intron_variant LIRI-JP 2 170605182 170605182 single base substitution T A intron_variant LIRI-JP 2 170605620 170605620 single base substitution T C intron_variant LIRI-JP 2 170612293 170612293 single base substitution A G downstream_gene_variant LIRI-JP 2 170612293 170612293 single base substitution A G intron_variant LIRI-JP 2 170612543 170612543 single base substitution T C downstream_gene_variant LIRI-JP 2 170612543 170612543 single base substitution T C intron_variant LIRI-JP 2 170612568 170612568 single base substitution C T downstream_gene_variant LIRI-JP 2 170612568 170612568 single base substitution C T intron_variant LIRI-JP 2 170618323 170618323 single base substitution T C intron_variant LIRI-JP 2 170618766 170618766 single base substitution C G intron_variant LIRI-JP 2 170624069 170624069 single base substitution G A intron_variant LIRI-JP 2 170625717 170625717 single base substitution T A intron_variant LIRI-JP 2 170627062 170627062 single base substitution T G intron_variant LIRI-JP 2 170629471 170629471 single base substitution C A intron_variant LIRI-JP 2 170632489 170632489 single base substitution T A downstream_gene_variant LIRI-JP 2 170632489 170632489 single base substitution T A intron_variant LUSC-KR 2 170546733 170546733 single base substitution T G upstream_gene_variant LUSC-KR 2 170548422 170548422 single base substitution A T upstream_gene_variant LUSC-KR 2 170548956 170548956 single base substitution A G upstream_gene_variant LUSC-KR 2 170550839 170550839 single base substitution A G upstream_gene_variant LUSC-KR 2 170550956 170550956 single base substitution A C upstream_gene_variant LUSC-KR 2 170551854 170551854 single base substitution C A intron_variant LUSC-KR 2 170551854 170551854 single base substitution C A upstream_gene_variant LUSC-KR 2 170552376 170552376 single base substitution A C intron_variant LUSC-KR 2 170552376 170552376 single base substitution A C upstream_gene_variant LUSC-KR 2 170552377 170552377 single base substitution A T intron_variant LUSC-KR 2 170552377 170552377 single base substitution A T upstream_gene_variant LUSC-KR 2 170555199 170555199 single base substitution A T intron_variant LUSC-KR 2 170575189 170575189 single base substitution C A intron_variant LUSC-KR 2 170580585 170580585 single base substitution C G intron_variant LUSC-KR 2 170582258 170582258 single base substitution A G intron_variant LUSC-KR 2 170590893 170590893 single base substitution C T intron_variant LUSC-KR 2 170590893 170590893 single base substitution C T upstream_gene_variant LUSC-KR 2 170609467 170609467 single base substitution A G downstream_gene_variant LUSC-KR 2 170609467 170609467 single base substitution A G intron_variant LUSC-KR 2 170612515 170612515 single base substitution A G downstream_gene_variant LUSC-KR 2 170612515 170612515 single base substitution A G intron_variant LUSC-KR 2 170619829 170619829 single base substitution G C intron_variant LUSC-KR 2 170620721 170620721 single base substitution C T intron_variant LUSC-KR 2 170622541 170622541 single base substitution T C intron_variant LUSC-KR 2 170624636 170624636 single base substitution G T intron_variant LUSC-KR 2 170628663 170628663 single base substitution G A intron_variant LUSC-KR 2 170629023 170629023 single base substitution C A intron_variant LUSC-KR 2 170630629 170630629 single base substitution G T downstream_gene_variant LUSC-KR 2 170630629 170630629 single base substitution G T intron_variant LUSC-KR 2 170632986 170632986 single base substitution G C 3_prime_UTR_variant LUSC-KR 2 170632986 170632986 single base substitution G C downstream_gene_variant LUSC-US 2 170557600 170557600 single base substitution G A intron_variant LUSC-US 2 170591838 170591838 single base substitution G T intron_variant LUSC-US 2 170591838 170591838 single base substitution G T missense_variant R105I 314G>T LUSC-US 2 170591838 170591838 single base substitution G T upstream_gene_variant LUSC-US 2 170592599 170592599 single base substitution A T intron_variant LUSC-US 2 170592599 170592599 single base substitution A T missense_variant R180W 538A>T LUSC-US 2 170592599 170592599 single base substitution A T missense_variant R359W 1075A>T LUSC-US 2 170592599 170592599 single base substitution A T upstream_gene_variant LUSC-US 2 170592730 170592730 single base substitution G C intron_variant LUSC-US 2 170592730 170592730 single base substitution G C missense_variant M223I 669G>C LUSC-US 2 170592730 170592730 single base substitution G C missense_variant M402I 1206G>C LUSC-US 2 170592730 170592730 single base substitution G C upstream_gene_variant MALY-DE 2 170546137 170546137 single base substitution C G upstream_gene_variant MALY-DE 2 170550490 170550490 single base substitution C G upstream_gene_variant MALY-DE 2 170559795 170559795 single base substitution A G intron_variant MALY-DE 2 170560457 170560457 single base substitution G A intron_variant MALY-DE 2 170568766 170568766 single base substitution C A intron_variant MALY-DE 2 170574799 170574799 single base substitution T A intron_variant MALY-DE 2 170577016 170577016 single base substitution G A intron_variant MALY-DE 2 170587854 170587854 single base substitution A T intron_variant MALY-DE 2 170587854 170587854 single base substitution A T upstream_gene_variant MALY-DE 2 170606550 170606550 single base substitution T C 3_prime_UTR_variant MALY-DE 2 170606550 170606550 single base substitution T C downstream_gene_variant MALY-DE 2 170606550 170606550 single base substitution T C intron_variant MELA-AU 2 170546054 170546054 single base substitution C T upstream_gene_variant MELA-AU 2 170546582 170546582 single base substitution G A upstream_gene_variant MELA-AU 2 170546802 170546802 single base substitution G A upstream_gene_variant MELA-AU 2 170546949 170546949 single base substitution G A upstream_gene_variant MELA-AU 2 170547163 170547163 single base substitution G C upstream_gene_variant MELA-AU 2 170547747 170547747 single base substitution A G upstream_gene_variant MELA-AU 2 170548014 170548014 single base substitution C T upstream_gene_variant MELA-AU 2 170548352 170548352 single base substitution T C upstream_gene_variant MELA-AU 2 170548367 170548367 single base substitution G A upstream_gene_variant MELA-AU 2 170548640 170548640 single base substitution G A upstream_gene_variant MELA-AU 2 170549488 170549488 single base substitution C T upstream_gene_variant MELA-AU 2 170550222 170550222 single base substitution G A upstream_gene_variant MELA-AU 2 170550490 170550490 single base substitution C G upstream_gene_variant MELA-AU 2 170550924 170550924 single base substitution T C upstream_gene_variant MELA-AU 2 170550938 170550938 single base substitution G A upstream_gene_variant MELA-AU 2 170551154 170551154 single base substitution C T intron_variant MELA-AU 2 170551154 170551154 single base substitution C T upstream_gene_variant MELA-AU 2 170551485 170551485 single base substitution C T intron_variant MELA-AU 2 170551485 170551485 single base substitution C T upstream_gene_variant MELA-AU 2 170552672 170552672 single base substitution C T intron_variant MELA-AU 2 170552672 170552672 single base substitution C T upstream_gene_variant MELA-AU 2 170553380 170553380 single base substitution C T intron_variant MELA-AU 2 170553380 170553380 single base substitution C T upstream_gene_variant MELA-AU 2 170553414 170553414 single base substitution C T intron_variant MELA-AU 2 170553414 170553414 single base substitution C T upstream_gene_variant MELA-AU 2 170553616 170553616 single base substitution C T intron_variant MELA-AU 2 170553616 170553616 single base substitution C T upstream_gene_variant MELA-AU 2 170553720 170553721 deletion of <=200bp TT - intron_variant MELA-AU 2 170553720 170553721 deletion of <=200bp TT - upstream_gene_variant MELA-AU 2 170554046 170554046 single base substitution G T intron_variant MELA-AU 2 170554046 170554046 single base substitution G T splice_region_variant MELA-AU 2 170554931 170554931 single base substitution C T intron_variant MELA-AU 2 170555445 170555445 single base substitution C T intron_variant MELA-AU 2 170555762 170555762 single base substitution G A intron_variant MELA-AU 2 170555828 170555828 single base substitution C T intron_variant MELA-AU 2 170555859 170555859 single base substitution C T intron_variant MELA-AU 2 170555969 170555969 single base substitution T A intron_variant MELA-AU 2 170557800 170557800 single base substitution T A intron_variant MELA-AU 2 170558158 170558158 single base substitution C T intron_variant MELA-AU 2 170558742 170558742 single base substitution C T intron_variant MELA-AU 2 170558754 170558754 single base substitution C T intron_variant MELA-AU 2 170558757 170558757 single base substitution C T intron_variant MELA-AU 2 170559192 170559192 single base substitution G A intron_variant MELA-AU 2 170559200 170559200 single base substitution C T intron_variant MELA-AU 2 170559218 170559218 single base substitution C T intron_variant MELA-AU 2 170559305 170559305 single base substitution C T intron_variant MELA-AU 2 170559750 170559750 single base substitution C T intron_variant MELA-AU 2 170560565 170560565 single base substitution A G intron_variant MELA-AU 2 170561602 170561602 single base substitution A G intron_variant MELA-AU 2 170561915 170561916 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 170563282 170563282 single base substitution C T intron_variant MELA-AU 2 170563558 170563558 single base substitution C T intron_variant MELA-AU 2 170563628 170563628 single base substitution C T intron_variant MELA-AU 2 170563995 170563995 single base substitution A C intron_variant MELA-AU 2 170564920 170564920 single base substitution G A intron_variant MELA-AU 2 170564931 170564931 single base substitution C T intron_variant MELA-AU 2 170564958 170564958 single base substitution C T intron_variant MELA-AU 2 170567515 170567515 single base substitution C T intron_variant MELA-AU 2 170567735 170567735 single base substitution C T intron_variant MELA-AU 2 170568036 170568036 single base substitution C T intron_variant MELA-AU 2 170568059 170568059 single base substitution C T intron_variant MELA-AU 2 170568065 170568065 single base substitution C T intron_variant MELA-AU 2 170568799 170568799 single base substitution C T intron_variant MELA-AU 2 170568974 170568974 single base substitution T A intron_variant MELA-AU 2 170568985 170568985 single base substitution G A intron_variant MELA-AU 2 170569384 170569384 single base substitution C T intron_variant MELA-AU 2 170569475 170569475 single base substitution C T intron_variant MELA-AU 2 170570391 170570391 single base substitution C T intron_variant MELA-AU 2 170570392 170570392 single base substitution C T intron_variant MELA-AU 2 170570606 170570606 single base substitution C T intron_variant MELA-AU 2 170570857 170570857 single base substitution G A intron_variant MELA-AU 2 170570859 170570859 single base substitution T A intron_variant MELA-AU 2 170570949 170570949 single base substitution C T intron_variant MELA-AU 2 170572460 170572460 single base substitution C T intron_variant MELA-AU 2 170572547 170572547 single base substitution C T intron_variant MELA-AU 2 170572646 170572646 single base substitution G A intron_variant MELA-AU 2 170573570 170573570 single base substitution C T intron_variant MELA-AU 2 170573820 170573820 single base substitution C T intron_variant MELA-AU 2 170574187 170574187 single base substitution C T intron_variant MELA-AU 2 170574240 170574240 single base substitution G A intron_variant MELA-AU 2 170574611 170574611 single base substitution C T intron_variant MELA-AU 2 170575026 170575026 single base substitution C T intron_variant MELA-AU 2 170575182 170575182 single base substitution C T intron_variant MELA-AU 2 170575217 170575217 single base substitution G A intron_variant MELA-AU 2 170575740 170575740 single base substitution C T intron_variant MELA-AU 2 170576698 170576698 single base substitution C T intron_variant MELA-AU 2 170576867 170576867 single base substitution T G intron_variant MELA-AU 2 170577284 170577284 single base substitution C T intron_variant MELA-AU 2 170577871 170577871 single base substitution A C intron_variant MELA-AU 2 170577908 170577908 single base substitution C T intron_variant MELA-AU 2 170578046 170578046 single base substitution G A intron_variant MELA-AU 2 170578264 170578264 single base substitution G A intron_variant MELA-AU 2 170578330 170578330 single base substitution G A intron_variant MELA-AU 2 170578390 170578390 single base substitution G A intron_variant MELA-AU 2 170578510 170578510 single base substitution C T intron_variant MELA-AU 2 170578550 170578550 single base substitution C T intron_variant MELA-AU 2 170578771 170578771 single base substitution C T intron_variant MELA-AU 2 170578884 170578884 single base substitution C A intron_variant MELA-AU 2 170579475 170579475 single base substitution C T intron_variant MELA-AU 2 170580000 170580000 single base substitution T A intron_variant MELA-AU 2 170580428 170580428 single base substitution G A intron_variant MELA-AU 2 170580998 170580998 single base substitution A T intron_variant MELA-AU 2 170581686 170581686 single base substitution C T intron_variant MELA-AU 2 170581949 170581949 single base substitution G A intron_variant MELA-AU 2 170581959 170581959 single base substitution C T intron_variant MELA-AU 2 170582126 170582126 single base substitution G C intron_variant MELA-AU 2 170582132 170582132 single base substitution C T intron_variant MELA-AU 2 170582164 170582164 single base substitution C T intron_variant MELA-AU 2 170582257 170582257 single base substitution G A intron_variant MELA-AU 2 170582284 170582284 single base substitution G A intron_variant MELA-AU 2 170582310 170582310 single base substitution G A intron_variant MELA-AU 2 170582352 170582352 single base substitution C T intron_variant MELA-AU 2 170583380 170583380 single base substitution C T intron_variant MELA-AU 2 170583702 170583702 single base substitution C T intron_variant MELA-AU 2 170584180 170584180 single base substitution C T intron_variant MELA-AU 2 170584193 170584193 single base substitution C T intron_variant MELA-AU 2 170584455 170584455 single base substitution C T intron_variant MELA-AU 2 170584579 170584579 single base substitution C T intron_variant MELA-AU 2 170584909 170584909 single base substitution T C intron_variant MELA-AU 2 170585036 170585036 single base substitution C T intron_variant MELA-AU 2 170585107 170585107 single base substitution C T intron_variant MELA-AU 2 170585491 170585491 single base substitution G A intron_variant MELA-AU 2 170585491 170585491 single base substitution G A upstream_gene_variant MELA-AU 2 170585971 170585971 single base substitution C T intron_variant MELA-AU 2 170585971 170585971 single base substitution C T upstream_gene_variant MELA-AU 2 170586405 170586405 single base substitution C T intron_variant MELA-AU 2 170586405 170586405 single base substitution C T upstream_gene_variant MELA-AU 2 170587758 170587758 single base substitution C T intron_variant MELA-AU 2 170587758 170587758 single base substitution C T upstream_gene_variant MELA-AU 2 170587775 170587775 single base substitution G A intron_variant MELA-AU 2 170587775 170587775 single base substitution G A upstream_gene_variant MELA-AU 2 170588096 170588096 single base substitution A T intron_variant MELA-AU 2 170588096 170588096 single base substitution A T upstream_gene_variant MELA-AU 2 170588481 170588481 single base substitution G A intron_variant MELA-AU 2 170588481 170588481 single base substitution G A upstream_gene_variant MELA-AU 2 170589301 170589301 single base substitution C T intron_variant MELA-AU 2 170589301 170589301 single base substitution C T upstream_gene_variant MELA-AU 2 170589390 170589390 single base substitution C T intron_variant MELA-AU 2 170589390 170589390 single base substitution C T upstream_gene_variant MELA-AU 2 170591177 170591177 single base substitution C T intron_variant MELA-AU 2 170591177 170591177 single base substitution C T upstream_gene_variant MELA-AU 2 170591309 170591309 single base substitution C T intron_variant MELA-AU 2 170591309 170591309 single base substitution C T upstream_gene_variant MELA-AU 2 170591658 170591658 single base substitution G A intron_variant MELA-AU 2 170591658 170591658 single base substitution G A missense_variant G45D 134G>A MELA-AU 2 170591658 170591658 single base substitution G A upstream_gene_variant MELA-AU 2 170592455 170592455 single base substitution G A intron_variant MELA-AU 2 170592455 170592455 single base substitution G A missense_variant E132K 394G>A MELA-AU 2 170592455 170592455 single base substitution G A missense_variant E311K 931G>A MELA-AU 2 170592696 170592696 single base substitution C T intron_variant MELA-AU 2 170592696 170592696 single base substitution C T missense_variant P212L 635C>T MELA-AU 2 170592696 170592696 single base substitution C T missense_variant P391L 1172C>T MELA-AU 2 170592696 170592696 single base substitution C T upstream_gene_variant MELA-AU 2 170592987 170592987 single base substitution C T intron_variant MELA-AU 2 170592987 170592987 single base substitution C T upstream_gene_variant MELA-AU 2 170593007 170593007 single base substitution C T intron_variant MELA-AU 2 170593007 170593007 single base substitution C T upstream_gene_variant MELA-AU 2 170593047 170593047 single base substitution G A intron_variant MELA-AU 2 170593047 170593047 single base substitution G A upstream_gene_variant MELA-AU 2 170593069 170593069 single base substitution C T intron_variant MELA-AU 2 170593069 170593069 single base substitution C T upstream_gene_variant MELA-AU 2 170594323 170594323 single base substitution C T intron_variant MELA-AU 2 170594323 170594323 single base substitution C T upstream_gene_variant MELA-AU 2 170594382 170594382 single base substitution C T intron_variant MELA-AU 2 170594382 170594382 single base substitution C T upstream_gene_variant MELA-AU 2 170594623 170594623 single base substitution C T intron_variant MELA-AU 2 170594623 170594623 single base substitution C T upstream_gene_variant MELA-AU 2 170594968 170594968 single base substitution C T intron_variant MELA-AU 2 170594968 170594968 single base substitution C T upstream_gene_variant MELA-AU 2 170595711 170595711 single base substitution C T intron_variant MELA-AU 2 170595711 170595711 single base substitution C T upstream_gene_variant MELA-AU 2 170596048 170596048 single base substitution G T intron_variant MELA-AU 2 170596048 170596048 single base substitution G T upstream_gene_variant MELA-AU 2 170596109 170596109 single base substitution C T intron_variant MELA-AU 2 170596109 170596109 single base substitution C T upstream_gene_variant MELA-AU 2 170596856 170596856 single base substitution C A intron_variant MELA-AU 2 170596856 170596856 single base substitution C A upstream_gene_variant MELA-AU 2 170597431 170597431 single base substitution C T intron_variant MELA-AU 2 170597431 170597431 single base substitution C T upstream_gene_variant MELA-AU 2 170597832 170597832 single base substitution C T exon_variant MELA-AU 2 170597832 170597832 single base substitution C T intron_variant MELA-AU 2 170597832 170597832 single base substitution C T upstream_gene_variant MELA-AU 2 170598324 170598324 single base substitution C T intron_variant MELA-AU 2 170599226 170599226 single base substitution C T intron_variant MELA-AU 2 170599458 170599458 single base substitution C T intron_variant MELA-AU 2 170599462 170599462 single base substitution G T intron_variant MELA-AU 2 170599796 170599796 single base substitution C T intron_variant MELA-AU 2 170599974 170599974 single base substitution C T intron_variant MELA-AU 2 170600073 170600073 single base substitution C T intron_variant MELA-AU 2 170600110 170600110 single base substitution C T intron_variant MELA-AU 2 170600141 170600141 single base substitution G A intron_variant MELA-AU 2 170600295 170600295 single base substitution T C intron_variant MELA-AU 2 170600412 170600412 single base substitution C T intron_variant MELA-AU 2 170600690 170600690 single base substitution C T intron_variant MELA-AU 2 170600750 170600750 single base substitution A G intron_variant MELA-AU 2 170601791 170601791 single base substitution G A intron_variant MELA-AU 2 170602061 170602061 single base substitution C T intron_variant MELA-AU 2 170602987 170602987 single base substitution C T intron_variant MELA-AU 2 170603154 170603154 single base substitution C T intron_variant MELA-AU 2 170603387 170603387 single base substitution C T intron_variant MELA-AU 2 170603886 170603886 single base substitution G A intron_variant MELA-AU 2 170603888 170603888 single base substitution G A intron_variant MELA-AU 2 170603991 170603991 single base substitution T C intron_variant MELA-AU 2 170604037 170604037 single base substitution C T intron_variant MELA-AU 2 170604593 170604593 single base substitution C T intron_variant MELA-AU 2 170604877 170604877 single base substitution C T intron_variant MELA-AU 2 170605244 170605244 single base substitution A T intron_variant MELA-AU 2 170605246 170605246 single base substitution A T intron_variant MELA-AU 2 170606191 170606191 single base substitution T A downstream_gene_variant MELA-AU 2 170606191 170606191 single base substitution T A intron_variant MELA-AU 2 170606191 170606191 single base substitution T A missense_variant N49K 147T>A MELA-AU 2 170606191 170606191 single base substitution T A missense_variant N542K 1626T>A MELA-AU 2 170606416 170606416 single base substitution A G 3_prime_UTR_variant MELA-AU 2 170606416 170606416 single base substitution A G downstream_gene_variant MELA-AU 2 170606416 170606416 single base substitution A G intron_variant MELA-AU 2 170606775 170606775 single base substitution C T 3_prime_UTR_variant MELA-AU 2 170606775 170606775 single base substitution C T downstream_gene_variant MELA-AU 2 170606775 170606775 single base substitution C T intron_variant MELA-AU 2 170607126 170607126 single base substitution C T 3_prime_UTR_variant MELA-AU 2 170607126 170607126 single base substitution C T downstream_gene_variant MELA-AU 2 170607126 170607126 single base substitution C T intron_variant MELA-AU 2 170607816 170607816 single base substitution A T 3_prime_UTR_variant MELA-AU 2 170607816 170607816 single base substitution A T downstream_gene_variant MELA-AU 2 170607816 170607816 single base substitution A T intron_variant MELA-AU 2 170607916 170607916 single base substitution G A 3_prime_UTR_variant MELA-AU 2 170607916 170607916 single base substitution G A downstream_gene_variant MELA-AU 2 170607916 170607916 single base substitution G A intron_variant MELA-AU 2 170607960 170607960 single base substitution C T 3_prime_UTR_variant MELA-AU 2 170607960 170607960 single base substitution C T downstream_gene_variant MELA-AU 2 170607960 170607960 single base substitution C T intron_variant MELA-AU 2 170608032 170608032 single base substitution A T 3_prime_UTR_variant MELA-AU 2 170608032 170608032 single base substitution A T downstream_gene_variant MELA-AU 2 170608032 170608032 single base substitution A T intron_variant MELA-AU 2 170608677 170608677 single base substitution C T downstream_gene_variant MELA-AU 2 170608677 170608677 single base substitution C T intron_variant MELA-AU 2 170608695 170608695 single base substitution A C downstream_gene_variant MELA-AU 2 170608695 170608695 single base substitution A C intron_variant MELA-AU 2 170608848 170608848 single base substitution T C downstream_gene_variant MELA-AU 2 170608848 170608848 single base substitution T C intron_variant MELA-AU 2 170609100 170609100 single base substitution G A downstream_gene_variant MELA-AU 2 170609100 170609100 single base substitution G A intron_variant MELA-AU 2 170610139 170610139 single base substitution C T downstream_gene_variant MELA-AU 2 170610139 170610139 single base substitution C T intron_variant MELA-AU 2 170610334 170610334 single base substitution C T downstream_gene_variant MELA-AU 2 170610334 170610334 single base substitution C T intron_variant MELA-AU 2 170610473 170610473 single base substitution G A downstream_gene_variant MELA-AU 2 170610473 170610473 single base substitution G A intron_variant MELA-AU 2 170611605 170611605 single base substitution C T downstream_gene_variant MELA-AU 2 170611605 170611605 single base substitution C T intron_variant MELA-AU 2 170611647 170611647 single base substitution C T downstream_gene_variant MELA-AU 2 170611647 170611647 single base substitution C T intron_variant MELA-AU 2 170611813 170611813 single base substitution T C downstream_gene_variant MELA-AU 2 170611813 170611813 single base substitution T C intron_variant MELA-AU 2 170612507 170612507 single base substitution C T downstream_gene_variant MELA-AU 2 170612507 170612507 single base substitution C T intron_variant MELA-AU 2 170612620 170612620 single base substitution C T downstream_gene_variant MELA-AU 2 170612620 170612620 single base substitution C T intron_variant MELA-AU 2 170612879 170612879 single base substitution T C downstream_gene_variant MELA-AU 2 170612879 170612879 single base substitution T C intron_variant MELA-AU 2 170613408 170613408 single base substitution C T intron_variant MELA-AU 2 170613739 170613739 single base substitution G A intron_variant MELA-AU 2 170613910 170613910 single base substitution C T intron_variant MELA-AU 2 170613959 170613959 single base substitution T C intron_variant MELA-AU 2 170614011 170614011 single base substitution C T intron_variant MELA-AU 2 170614092 170614092 single base substitution C T intron_variant MELA-AU 2 170614095 170614096 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 2 170614137 170614137 single base substitution C T intron_variant MELA-AU 2 170614408 170614408 single base substitution C T intron_variant MELA-AU 2 170614688 170614688 single base substitution G A intron_variant MELA-AU 2 170614897 170614897 single base substitution G A intron_variant MELA-AU 2 170615145 170615145 single base substitution C T intron_variant MELA-AU 2 170615754 170615754 single base substitution G A intron_variant MELA-AU 2 170615868 170615868 single base substitution C T intron_variant MELA-AU 2 170615929 170615929 single base substitution G A intron_variant MELA-AU 2 170616074 170616075 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 170616173 170616173 single base substitution G A intron_variant MELA-AU 2 170616528 170616528 single base substitution C T intron_variant MELA-AU 2 170616740 170616740 single base substitution G A intron_variant MELA-AU 2 170617059 170617059 single base substitution G A intron_variant MELA-AU 2 170617616 170617616 single base substitution G A intron_variant MELA-AU 2 170618223 170618223 single base substitution C T intron_variant MELA-AU 2 170618525 170618525 single base substitution C T intron_variant MELA-AU 2 170618772 170618772 single base substitution C T intron_variant MELA-AU 2 170619004 170619005 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 170619378 170619378 single base substitution G A intron_variant MELA-AU 2 170619479 170619479 single base substitution C T intron_variant MELA-AU 2 170619480 170619480 single base substitution T C intron_variant MELA-AU 2 170619500 170619500 single base substitution C T intron_variant MELA-AU 2 170619594 170619594 single base substitution T C intron_variant MELA-AU 2 170620158 170620158 single base substitution G A intron_variant MELA-AU 2 170620364 170620364 single base substitution G A intron_variant MELA-AU 2 170620816 170620816 single base substitution C T intron_variant MELA-AU 2 170621106 170621106 single base substitution C T intron_variant MELA-AU 2 170621188 170621188 single base substitution T A intron_variant MELA-AU 2 170622169 170622169 single base substitution T C intron_variant MELA-AU 2 170622221 170622221 single base substitution C T intron_variant MELA-AU 2 170622331 170622331 single base substitution C T intron_variant MELA-AU 2 170622371 170622371 single base substitution G A intron_variant MELA-AU 2 170622439 170622439 single base substitution A G intron_variant MELA-AU 2 170622456 170622456 single base substitution G A intron_variant MELA-AU 2 170622663 170622663 single base substitution G C intron_variant MELA-AU 2 170623310 170623310 single base substitution C T intron_variant MELA-AU 2 170623311 170623311 single base substitution C T intron_variant MELA-AU 2 170624114 170624114 single base substitution G A intron_variant MELA-AU 2 170624360 170624360 single base substitution A T intron_variant MELA-AU 2 170624410 170624410 single base substitution G A intron_variant MELA-AU 2 170625057 170625057 single base substitution C G intron_variant MELA-AU 2 170625128 170625128 single base substitution G A intron_variant MELA-AU 2 170625191 170625191 single base substitution A G intron_variant MELA-AU 2 170625343 170625343 single base substitution G A intron_variant MELA-AU 2 170625691 170625692 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 170626183 170626183 single base substitution G A intron_variant MELA-AU 2 170626214 170626214 single base substitution G A intron_variant MELA-AU 2 170626427 170626427 single base substitution A C intron_variant MELA-AU 2 170626473 170626473 single base substitution C T intron_variant MELA-AU 2 170627027 170627027 single base substitution C T intron_variant MELA-AU 2 170627088 170627088 single base substitution G A intron_variant MELA-AU 2 170627424 170627424 single base substitution C T intron_variant MELA-AU 2 170627533 170627533 single base substitution C T intron_variant MELA-AU 2 170627577 170627577 single base substitution G A intron_variant MELA-AU 2 170627604 170627604 single base substitution G A intron_variant MELA-AU 2 170628093 170628093 single base substitution A C intron_variant MELA-AU 2 170628159 170628159 single base substitution C T intron_variant MELA-AU 2 170628168 170628168 single base substitution G A intron_variant MELA-AU 2 170628469 170628469 single base substitution C T intron_variant MELA-AU 2 170628503 170628503 single base substitution A T intron_variant MELA-AU 2 170628544 170628544 single base substitution C T intron_variant MELA-AU 2 170628761 170628761 single base substitution C T intron_variant MELA-AU 2 170629123 170629123 single base substitution C T intron_variant MELA-AU 2 170629270 170629270 single base substitution G A intron_variant MELA-AU 2 170629400 170629400 single base substitution C T intron_variant MELA-AU 2 170629408 170629408 single base substitution G A intron_variant MELA-AU 2 170629457 170629457 single base substitution C T intron_variant MELA-AU 2 170629676 170629676 single base substitution T G intron_variant MELA-AU 2 170630003 170630003 single base substitution G A downstream_gene_variant MELA-AU 2 170630003 170630003 single base substitution G A intron_variant MELA-AU 2 170630074 170630074 single base substitution T C downstream_gene_variant MELA-AU 2 170630074 170630074 single base substitution T C intron_variant MELA-AU 2 170630392 170630392 single base substitution G A downstream_gene_variant MELA-AU 2 170630392 170630392 single base substitution G A intron_variant MELA-AU 2 170630438 170630438 single base substitution C T downstream_gene_variant MELA-AU 2 170630438 170630438 single base substitution C T intron_variant MELA-AU 2 170630444 170630444 single base substitution C T downstream_gene_variant MELA-AU 2 170630444 170630444 single base substitution C T intron_variant MELA-AU 2 170630526 170630526 single base substitution C T downstream_gene_variant MELA-AU 2 170630526 170630526 single base substitution C T intron_variant MELA-AU 2 170630556 170630556 single base substitution C T downstream_gene_variant MELA-AU 2 170630556 170630556 single base substitution C T intron_variant MELA-AU 2 170630743 170630743 single base substitution G A downstream_gene_variant MELA-AU 2 170630743 170630743 single base substitution G A intron_variant MELA-AU 2 170631490 170631490 single base substitution T C downstream_gene_variant MELA-AU 2 170631490 170631490 single base substitution T C intron_variant MELA-AU 2 170631661 170631661 deletion of <=200bp T - downstream_gene_variant MELA-AU 2 170631661 170631661 deletion of <=200bp T - intron_variant MELA-AU 2 170631736 170631736 single base substitution G A downstream_gene_variant MELA-AU 2 170631736 170631736 single base substitution G A intron_variant MELA-AU 2 170631814 170631814 single base substitution G A downstream_gene_variant MELA-AU 2 170631814 170631814 single base substitution G A intron_variant MELA-AU 2 170632277 170632277 single base substitution T C downstream_gene_variant MELA-AU 2 170632277 170632277 single base substitution T C intron_variant MELA-AU 2 170633545 170633545 single base substitution C T downstream_gene_variant MELA-AU 2 170633857 170633858 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 170633954 170633954 single base substitution C T downstream_gene_variant MELA-AU 2 170634184 170634184 single base substitution C T downstream_gene_variant MELA-AU 2 170634234 170634234 single base substitution C T downstream_gene_variant MELA-AU 2 170634377 170634377 single base substitution C T downstream_gene_variant MELA-AU 2 170634565 170634565 single base substitution C T downstream_gene_variant MELA-AU 2 170634707 170634707 single base substitution C T downstream_gene_variant MELA-AU 2 170635111 170635111 single base substitution C T downstream_gene_variant MELA-AU 2 170635273 170635287 deletion of <=200bp ATAGATCACCAGTTT - downstream_gene_variant MELA-AU 2 170635410 170635410 single base substitution C T downstream_gene_variant MELA-AU 2 170635661 170635661 single base substitution C T downstream_gene_variant MELA-AU 2 170635730 170635730 single base substitution G A downstream_gene_variant MELA-AU 2 170635986 170635986 single base substitution C T downstream_gene_variant MELA-AU 2 170635987 170635987 single base substitution C T downstream_gene_variant MELA-AU 2 170637307 170637307 single base substitution C T downstream_gene_variant MELA-AU 2 170637385 170637385 single base substitution G A downstream_gene_variant MELA-AU 2 170637929 170637929 single base substitution G A downstream_gene_variant MELA-AU 2 170638474 170638475 multiple base substitution (>=2bp and <=200bp) TT AA downstream_gene_variant ORCA-IN 2 170553530 170553531 deletion of <=200bp AT - intron_variant ORCA-IN 2 170553530 170553531 deletion of <=200bp AT - upstream_gene_variant ORCA-IN 2 170586499 170586499 single base substitution C T intron_variant ORCA-IN 2 170586499 170586499 single base substitution C T upstream_gene_variant ORCA-IN 2 170596332 170596332 single base substitution C T intron_variant ORCA-IN 2 170596332 170596332 single base substitution C T upstream_gene_variant ORCA-IN 2 170610854 170610854 single base substitution G C downstream_gene_variant ORCA-IN 2 170610854 170610854 single base substitution G C intron_variant ORCA-IN 2 170610889 170610889 insertion of <=200bp - TTT downstream_gene_variant ORCA-IN 2 170610889 170610889 insertion of <=200bp - TTT intron_variant ORCA-IN 2 170624729 170624729 single base substitution G A intron_variant ORCA-IN 2 170630451 170630451 single base substitution G A downstream_gene_variant ORCA-IN 2 170630451 170630451 single base substitution G A intron_variant ORCA-IN 2 170635977 170635977 single base substitution T A downstream_gene_variant OV-AU 2 170546187 170546187 single base substitution T A upstream_gene_variant OV-AU 2 170549169 170549169 single base substitution C G upstream_gene_variant OV-AU 2 170570566 170570566 single base substitution G A intron_variant OV-AU 2 170570885 170570885 single base substitution C G intron_variant OV-AU 2 170570886 170570886 single base substitution C T intron_variant OV-AU 2 170571557 170571557 single base substitution C T intron_variant OV-AU 2 170577219 170577219 single base substitution C G intron_variant OV-AU 2 170580572 170580572 single base substitution C T intron_variant OV-AU 2 170582190 170582190 single base substitution A G intron_variant OV-AU 2 170590994 170590994 single base substitution G A intron_variant OV-AU 2 170590994 170590994 single base substitution G A upstream_gene_variant OV-AU 2 170601686 170601686 single base substitution C G intron_variant OV-AU 2 170610744 170610744 single base substitution C A downstream_gene_variant OV-AU 2 170610744 170610744 single base substitution C A intron_variant OV-AU 2 170613150 170613150 single base substitution C T downstream_gene_variant OV-AU 2 170613150 170613150 single base substitution C T intron_variant OV-AU 2 170615742 170615742 single base substitution A T intron_variant OV-AU 2 170626828 170626828 single base substitution A G intron_variant OV-AU 2 170628877 170628877 single base substitution C A intron_variant OV-AU 2 170631261 170631261 single base substitution C G downstream_gene_variant OV-AU 2 170631261 170631261 single base substitution C G intron_variant OV-AU 2 170631404 170631404 single base substitution G A downstream_gene_variant OV-AU 2 170631404 170631404 single base substitution G A intron_variant PACA-AU 2 170551958 170551966 deletion of <=200bp AACACGGTG - intron_variant PACA-AU 2 170551958 170551966 deletion of <=200bp AACACGGTG - upstream_gene_variant PACA-AU 2 170555729 170555729 single base substitution C T intron_variant PACA-AU 2 170561608 170561608 single base substitution T A intron_variant PACA-AU 2 170572028 170572028 single base substitution A C intron_variant PACA-AU 2 170577790 170577790 deletion of <=200bp C - intron_variant PACA-AU 2 170578306 170578306 single base substitution G A intron_variant PACA-AU 2 170579216 170579216 single base substitution A G intron_variant PACA-AU 2 170579609 170579609 single base substitution T A intron_variant PACA-AU 2 170581361 170581361 single base substitution G A intron_variant PACA-AU 2 170584667 170584667 single base substitution A T intron_variant PACA-AU 2 170590484 170590484 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 2 170590484 170590484 single base substitution A T intron_variant PACA-AU 2 170590484 170590484 single base substitution A T upstream_gene_variant PACA-AU 2 170594954 170594954 single base substitution G A intron_variant PACA-AU 2 170594954 170594954 single base substitution G A upstream_gene_variant PACA-AU 2 170601211 170601211 single base substitution G A intron_variant PACA-AU 2 170601447 170601447 insertion of <=200bp - T intron_variant PACA-AU 2 170609119 170609119 single base substitution A T downstream_gene_variant PACA-AU 2 170609119 170609119 single base substitution A T intron_variant PACA-AU 2 170614823 170614830 deletion of <=200bp TCCATCCT - intron_variant PACA-AU 2 170620871 170620871 single base substitution G A intron_variant PACA-AU 2 170622204 170622204 single base substitution G A intron_variant PACA-AU 2 170623609 170623609 single base substitution C T intron_variant PACA-AU 2 170628752 170628752 single base substitution G C intron_variant PACA-AU 2 170631597 170631597 single base substitution G C downstream_gene_variant PACA-AU 2 170631597 170631597 single base substitution G C intron_variant PACA-AU 2 170636330 170636330 single base substitution G C downstream_gene_variant PACA-AU 2 170638268 170638268 deletion of <=200bp A - downstream_gene_variant PACA-CA 2 170549186 170549186 single base substitution T C upstream_gene_variant PACA-CA 2 170551794 170551794 single base substitution G A intron_variant PACA-CA 2 170551794 170551794 single base substitution G A upstream_gene_variant PACA-CA 2 170555061 170555061 single base substitution G C intron_variant PACA-CA 2 170558623 170558623 single base substitution A G intron_variant PACA-CA 2 170566698 170566698 single base substitution G T intron_variant PACA-CA 2 170571822 170571822 single base substitution C T intron_variant PACA-CA 2 170573523 170573523 single base substitution A T intron_variant PACA-CA 2 170574775 170574775 insertion of <=200bp - TGTGC intron_variant PACA-CA 2 170575484 170575484 single base substitution A G intron_variant PACA-CA 2 170580089 170580089 insertion of <=200bp - T intron_variant PACA-CA 2 170581240 170581240 single base substitution G T intron_variant PACA-CA 2 170582506 170582506 single base substitution G C intron_variant PACA-CA 2 170584392 170584392 single base substitution T C intron_variant PACA-CA 2 170584921 170584921 single base substitution G A intron_variant PACA-CA 2 170585304 170585304 single base substitution C G intron_variant PACA-CA 2 170588457 170588457 single base substitution T C intron_variant PACA-CA 2 170588457 170588457 single base substitution T C upstream_gene_variant PACA-CA 2 170592352 170592352 single base substitution T C intron_variant PACA-CA 2 170592352 170592352 single base substitution T C synonymous_variant Y276Y 828T>C PACA-CA 2 170592352 170592352 single base substitution T C synonymous_variant Y97Y 291T>C PACA-CA 2 170599614 170599614 single base substitution C G intron_variant PACA-CA 2 170608378 170608378 single base substitution A G 3_prime_UTR_variant PACA-CA 2 170608378 170608378 single base substitution A G downstream_gene_variant PACA-CA 2 170608378 170608378 single base substitution A G intron_variant PACA-CA 2 170610241 170610241 single base substitution A C downstream_gene_variant PACA-CA 2 170610241 170610241 single base substitution A C intron_variant PACA-CA 2 170618327 170618327 single base substitution G A intron_variant PACA-CA 2 170618750 170618750 single base substitution C T intron_variant PACA-CA 2 170619858 170619858 single base substitution C T intron_variant PACA-CA 2 170628022 170628022 single base substitution C A intron_variant PACA-CA 2 170629951 170629951 single base substitution A G downstream_gene_variant PACA-CA 2 170629951 170629951 single base substitution A G intron_variant PACA-CA 2 170638452 170638452 single base substitution C G downstream_gene_variant PAEN-AU 2 170585909 170585909 single base substitution C T intron_variant PAEN-AU 2 170585909 170585909 single base substitution C T upstream_gene_variant PAEN-AU 2 170623369 170623369 single base substitution T C intron_variant PAEN-IT 2 170580504 170580504 single base substitution C A intron_variant PAEN-IT 2 170606117 170606117 single base substitution T A downstream_gene_variant PAEN-IT 2 170606117 170606117 single base substitution T A intron_variant PAEN-IT 2 170606117 170606117 single base substitution T A missense_variant Y25N 73T>A PAEN-IT 2 170606117 170606117 single base substitution T A missense_variant Y518N 1552T>A PAEN-IT 2 170615604 170615604 single base substitution C T intron_variant PBCA-DE 2 170550224 170550224 insertion of <=200bp - T upstream_gene_variant PBCA-DE 2 170550490 170550490 single base substitution C G upstream_gene_variant PBCA-DE 2 170561608 170561608 single base substitution T A intron_variant PBCA-DE 2 170590455 170590457 deletion of <=200bp AGG - 5_prime_UTR_variant PBCA-DE 2 170590455 170590457 deletion of <=200bp AGG - intron_variant PBCA-DE 2 170590455 170590457 deletion of <=200bp AGG - upstream_gene_variant PBCA-DE 2 170606526 170606526 single base substitution T C 3_prime_UTR_variant PBCA-DE 2 170606526 170606526 single base substitution T C downstream_gene_variant PBCA-DE 2 170606526 170606526 single base substitution T C intron_variant PBCA-DE 2 170607818 170607818 single base substitution T A 3_prime_UTR_variant PBCA-DE 2 170607818 170607818 single base substitution T A downstream_gene_variant PBCA-DE 2 170607818 170607818 single base substitution T A intron_variant PBCA-DE 2 170626844 170626844 deletion of <=200bp A - intron_variant PRAD-CA 2 170573287 170573287 single base substitution G T intron_variant PRAD-CA 2 170574751 170574751 single base substitution A G intron_variant PRAD-CA 2 170624490 170624490 single base substitution C T intron_variant PRAD-CA 2 170634993 170634993 single base substitution T C downstream_gene_variant PRAD-CA 2 170638355 170638355 single base substitution A T downstream_gene_variant PRAD-UK 2 170551350 170551350 single base substitution C T intron_variant PRAD-UK 2 170551350 170551350 single base substitution C T upstream_gene_variant PRAD-UK 2 170573974 170573974 single base substitution C G intron_variant PRAD-UK 2 170589939 170589939 single base substitution G A intron_variant PRAD-UK 2 170589939 170589939 single base substitution G A upstream_gene_variant PRAD-UK 2 170592752 170592752 single base substitution T C intron_variant PRAD-UK 2 170592752 170592752 single base substitution T C upstream_gene_variant PRAD-UK 2 170601701 170601701 single base substitution C T intron_variant PRAD-UK 2 170607905 170607905 single base substitution C T 3_prime_UTR_variant PRAD-UK 2 170607905 170607905 single base substitution C T downstream_gene_variant PRAD-UK 2 170607905 170607905 single base substitution C T intron_variant PRAD-UK 2 170618633 170618633 single base substitution G A intron_variant PRAD-UK 2 170627446 170627467 deletion of <=200bp GCGTAGCTGTAATATATTTAAA - intron_variant PRAD-UK 2 170637844 170637844 single base substitution G A downstream_gene_variant READ-US 2 170557905 170557905 single base substitution C A intron_variant READ-US 2 170592282 170592282 single base substitution G A intron_variant READ-US 2 170592282 170592282 single base substitution G A missense_variant R253H 758G>A READ-US 2 170592282 170592282 single base substitution G A missense_variant R74H 221G>A READ-US 2 170592706 170592706 single base substitution G T intron_variant READ-US 2 170592706 170592706 single base substitution G T missense_variant E215D 645G>T READ-US 2 170592706 170592706 single base substitution G T missense_variant E394D 1182G>T READ-US 2 170592706 170592706 single base substitution G T upstream_gene_variant READ-US 2 170606090 170606090 single base substitution T C downstream_gene_variant READ-US 2 170606090 170606090 single base substitution T C intron_variant READ-US 2 170606090 170606090 single base substitution T C missense_variant C16R 46T>C READ-US 2 170606090 170606090 single base substitution T C missense_variant C509R 1525T>C READ-US 2 170606216 170606216 single base substitution G T downstream_gene_variant READ-US 2 170606216 170606216 single base substitution G T intron_variant READ-US 2 170606216 170606216 single base substitution G T missense_variant G551W 1651G>T READ-US 2 170606216 170606216 single base substitution G T missense_variant G58W 172G>T RECA-EU 2 170550253 170550253 single base substitution C T upstream_gene_variant RECA-EU 2 170551442 170551442 single base substitution A T intron_variant RECA-EU 2 170551442 170551442 single base substitution A T upstream_gene_variant RECA-EU 2 170552533 170552533 single base substitution G T intron_variant RECA-EU 2 170552533 170552533 single base substitution G T upstream_gene_variant RECA-EU 2 170562108 170562108 single base substitution C T intron_variant RECA-EU 2 170563991 170563991 single base substitution A G intron_variant RECA-EU 2 170616697 170616697 single base substitution A C intron_variant SKCA-BR 2 170546802 170546802 single base substitution G A upstream_gene_variant SKCA-BR 2 170555834 170555834 single base substitution C T intron_variant SKCA-BR 2 170562138 170562138 single base substitution G A intron_variant SKCA-BR 2 170563826 170563826 single base substitution A G intron_variant SKCA-BR 2 170564394 170564394 insertion of <=200bp - TC intron_variant SKCA-BR 2 170565088 170565088 single base substitution T A intron_variant SKCA-BR 2 170567190 170567190 single base substitution C T intron_variant SKCA-BR 2 170575903 170575903 single base substitution C T intron_variant SKCA-BR 2 170575947 170575947 single base substitution A C intron_variant SKCA-BR 2 170577243 170577245 deletion of <=200bp CTT - intron_variant SKCA-BR 2 170577350 170577350 single base substitution A T intron_variant SKCA-BR 2 170578879 170578879 single base substitution G A intron_variant SKCA-BR 2 170578886 170578886 single base substitution T C intron_variant SKCA-BR 2 170579286 170579286 single base substitution C G intron_variant SKCA-BR 2 170584022 170584022 single base substitution G A intron_variant SKCA-BR 2 170585670 170585670 single base substitution T C intron_variant SKCA-BR 2 170585670 170585670 single base substitution T C upstream_gene_variant SKCA-BR 2 170585901 170585901 single base substitution C T intron_variant SKCA-BR 2 170585901 170585901 single base substitution C T upstream_gene_variant SKCA-BR 2 170587139 170587139 single base substitution T G intron_variant SKCA-BR 2 170587139 170587139 single base substitution T G upstream_gene_variant SKCA-BR 2 170587598 170587598 single base substitution C T intron_variant SKCA-BR 2 170587598 170587598 single base substitution C T upstream_gene_variant SKCA-BR 2 170590309 170590309 single base substitution A G intron_variant SKCA-BR 2 170590309 170590309 single base substitution A G upstream_gene_variant SKCA-BR 2 170590435 170590435 single base substitution A G 5_prime_UTR_variant SKCA-BR 2 170590435 170590435 single base substitution A G intron_variant SKCA-BR 2 170590435 170590435 single base substitution A G upstream_gene_variant SKCA-BR 2 170590829 170590829 single base substitution C T intron_variant SKCA-BR 2 170590829 170590829 single base substitution C T upstream_gene_variant SKCA-BR 2 170591144 170591144 single base substitution T A intron_variant SKCA-BR 2 170591144 170591144 single base substitution T A upstream_gene_variant SKCA-BR 2 170592286 170592286 single base substitution C T intron_variant SKCA-BR 2 170592286 170592286 single base substitution C T synonymous_variant S254S 762C>T SKCA-BR 2 170592286 170592286 single base substitution C T synonymous_variant S75S 225C>T SKCA-BR 2 170592322 170592322 single base substitution G A intron_variant SKCA-BR 2 170592322 170592322 single base substitution G A synonymous_variant E266E 798G>A SKCA-BR 2 170592322 170592322 single base substitution G A synonymous_variant E87E 261G>A SKCA-BR 2 170594165 170594165 single base substitution C T intron_variant SKCA-BR 2 170594165 170594165 single base substitution C T upstream_gene_variant SKCA-BR 2 170594802 170594802 insertion of <=200bp - GT intron_variant SKCA-BR 2 170594802 170594802 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 2 170594803 170594803 single base substitution C G intron_variant SKCA-BR 2 170594803 170594803 single base substitution C G upstream_gene_variant SKCA-BR 2 170595156 170595156 single base substitution A G intron_variant SKCA-BR 2 170595156 170595156 single base substitution A G upstream_gene_variant SKCA-BR 2 170597278 170597278 single base substitution A T intron_variant SKCA-BR 2 170597278 170597278 single base substitution A T upstream_gene_variant SKCA-BR 2 170599698 170599698 single base substitution T C intron_variant SKCA-BR 2 170601453 170601453 insertion of <=200bp - GT intron_variant SKCA-BR 2 170603899 170603899 insertion of <=200bp - TAAAAA intron_variant SKCA-BR 2 170604321 170604321 single base substitution C T intron_variant SKCA-BR 2 170605849 170605849 single base substitution G A intron_variant SKCA-BR 2 170606196 170606196 single base substitution C T downstream_gene_variant SKCA-BR 2 170606196 170606196 single base substitution C T intron_variant SKCA-BR 2 170606196 170606196 single base substitution C T missense_variant P51L 152C>T SKCA-BR 2 170606196 170606196 single base substitution C T missense_variant P544L 1631C>T SKCA-BR 2 170606440 170606440 single base substitution T C 3_prime_UTR_variant SKCA-BR 2 170606440 170606440 single base substitution T C downstream_gene_variant SKCA-BR 2 170606440 170606440 single base substitution T C intron_variant SKCA-BR 2 170606442 170606442 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 170606442 170606442 single base substitution C T downstream_gene_variant SKCA-BR 2 170606442 170606442 single base substitution C T intron_variant SKCA-BR 2 170606444 170606444 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 170606444 170606444 single base substitution C T downstream_gene_variant SKCA-BR 2 170606444 170606444 single base substitution C T intron_variant SKCA-BR 2 170606446 170606446 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 170606446 170606446 single base substitution C T downstream_gene_variant SKCA-BR 2 170606446 170606446 single base substitution C T intron_variant SKCA-BR 2 170606448 170606448 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 170606448 170606448 single base substitution C T downstream_gene_variant SKCA-BR 2 170606448 170606448 single base substitution C T intron_variant SKCA-BR 2 170606456 170606462 deletion of <=200bp TGTGTTC - 3_prime_UTR_variant SKCA-BR 2 170606456 170606462 deletion of <=200bp TGTGTTC - downstream_gene_variant SKCA-BR 2 170606456 170606462 deletion of <=200bp TGTGTTC - intron_variant SKCA-BR 2 170606617 170606617 single base substitution T C 3_prime_UTR_variant SKCA-BR 2 170606617 170606617 single base substitution T C downstream_gene_variant SKCA-BR 2 170606617 170606617 single base substitution T C intron_variant SKCA-BR 2 170606618 170606618 single base substitution A G 3_prime_UTR_variant SKCA-BR 2 170606618 170606618 single base substitution A G downstream_gene_variant SKCA-BR 2 170606618 170606618 single base substitution A G intron_variant SKCA-BR 2 170606624 170606624 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 170606624 170606624 single base substitution G A downstream_gene_variant SKCA-BR 2 170606624 170606624 single base substitution G A intron_variant SKCA-BR 2 170609581 170609584 deletion of <=200bp ATAT - downstream_gene_variant SKCA-BR 2 170609581 170609584 deletion of <=200bp ATAT - intron_variant SKCA-BR 2 170609584 170609584 single base substitution T A downstream_gene_variant SKCA-BR 2 170609584 170609584 single base substitution T A intron_variant SKCA-BR 2 170609585 170609588 deletion of <=200bp ATCT - downstream_gene_variant SKCA-BR 2 170609585 170609588 deletion of <=200bp ATCT - intron_variant SKCA-BR 2 170609586 170609586 single base substitution T A downstream_gene_variant SKCA-BR 2 170609586 170609586 single base substitution T A intron_variant SKCA-BR 2 170609615 170609615 single base substitution A C downstream_gene_variant SKCA-BR 2 170609615 170609615 single base substitution A C intron_variant SKCA-BR 2 170609661 170609681 deletion of <=200bp ATATCTATATATATATATATC - downstream_gene_variant SKCA-BR 2 170609661 170609681 deletion of <=200bp ATATCTATATATATATATATC - intron_variant SKCA-BR 2 170609674 170609674 single base substitution T G downstream_gene_variant SKCA-BR 2 170609674 170609674 single base substitution T G intron_variant SKCA-BR 2 170609679 170609681 deletion of <=200bp ATC - downstream_gene_variant SKCA-BR 2 170609679 170609681 deletion of <=200bp ATC - intron_variant SKCA-BR 2 170609681 170609681 single base substitution C A downstream_gene_variant SKCA-BR 2 170609681 170609681 single base substitution C A intron_variant SKCA-BR 2 170609682 170609682 single base substitution T G downstream_gene_variant SKCA-BR 2 170609682 170609682 single base substitution T G intron_variant SKCA-BR 2 170609877 170609878 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 2 170609877 170609878 deletion of <=200bp GT - intron_variant SKCA-BR 2 170610065 170610065 single base substitution A G downstream_gene_variant SKCA-BR 2 170610065 170610065 single base substitution A G intron_variant SKCA-BR 2 170610318 170610318 single base substitution C T downstream_gene_variant SKCA-BR 2 170610318 170610318 single base substitution C T intron_variant SKCA-BR 2 170611938 170611938 single base substitution C T downstream_gene_variant SKCA-BR 2 170611938 170611938 single base substitution C T intron_variant SKCA-BR 2 170612972 170612972 single base substitution T C downstream_gene_variant SKCA-BR 2 170612972 170612972 single base substitution T C intron_variant SKCA-BR 2 170613309 170613309 single base substitution C T downstream_gene_variant SKCA-BR 2 170613309 170613309 single base substitution C T intron_variant SKCA-BR 2 170613548 170613548 single base substitution G A intron_variant SKCA-BR 2 170616527 170616527 insertion of <=200bp - TCC intron_variant SKCA-BR 2 170618479 170618479 single base substitution C T intron_variant SKCA-BR 2 170618524 170618524 single base substitution C A intron_variant SKCA-BR 2 170618525 170618525 single base substitution C T intron_variant SKCA-BR 2 170618577 170618577 single base substitution G A intron_variant SKCA-BR 2 170619533 170619533 single base substitution C T intron_variant SKCA-BR 2 170624895 170624895 single base substitution A C intron_variant SKCA-BR 2 170625046 170625046 single base substitution G A intron_variant SKCA-BR 2 170628027 170628027 single base substitution C A intron_variant SKCA-BR 2 170628734 170628734 single base substitution T G intron_variant SKCA-BR 2 170629834 170629834 single base substitution G A intron_variant SKCA-BR 2 170629834 170629834 single base substitution G A synonymous_variant K278K 834G>A SKCA-BR 2 170630196 170630196 single base substitution G A downstream_gene_variant SKCA-BR 2 170630196 170630196 single base substitution G A intron_variant SKCA-BR 2 170633943 170633943 single base substitution C T downstream_gene_variant SKCA-BR 2 170634994 170634994 single base substitution C T downstream_gene_variant SKCA-BR 2 170635772 170635772 single base substitution A C downstream_gene_variant SKCA-BR 2 170636166 170636166 single base substitution T C downstream_gene_variant SKCA-BR 2 170637951 170637951 single base substitution G A downstream_gene_variant SKCM-US 2 170557699 170557699 single base substitution C T intron_variant SKCM-US 2 170557707 170557707 single base substitution C T intron_variant SKCM-US 2 170558118 170558118 single base substitution C A intron_variant SKCM-US 2 170591668 170591668 single base substitution C A intron_variant SKCM-US 2 170591668 170591668 single base substitution C A missense_variant F48L 144C>A SKCM-US 2 170591668 170591668 single base substitution C A upstream_gene_variant SKCM-US 2 170591984 170591996 deletion of <=200bp CTAGAGAAGGAAT - frameshift_variant LEKES154 SKCM-US 2 170591984 170591996 deletion of <=200bp CTAGAGAAGGAAT - intron_variant SKCM-US 2 170591984 170591996 deletion of <=200bp CTAGAGAAGGAAT - upstream_gene_variant SKCM-US 2 170592141 170592141 single base substitution A G intron_variant SKCM-US 2 170592141 170592141 single base substitution A G missense_variant K206R 617A>G SKCM-US 2 170592141 170592141 single base substitution A G missense_variant K27R 80A>G SKCM-US 2 170592455 170592455 single base substitution G A intron_variant SKCM-US 2 170592455 170592455 single base substitution G A missense_variant E132K 394G>A SKCM-US 2 170592455 170592455 single base substitution G A missense_variant E311K 931G>A SKCM-US 2 170592479 170592479 single base substitution G A intron_variant SKCM-US 2 170592479 170592479 single base substitution G A missense_variant G140R 418G>A SKCM-US 2 170592479 170592479 single base substitution G A missense_variant G319R 955G>A STAD-US 2 170557504 170557504 single base substitution A G intron_variant STAD-US 2 170557595 170557595 single base substitution T G intron_variant STAD-US 2 170557915 170557915 single base substitution A G intron_variant STAD-US 2 170558005 170558005 single base substitution T A intron_variant STAD-US 2 170558070 170558070 single base substitution A T intron_variant STAD-US 2 170558101 170558102 deletion of <=200bp CT - intron_variant STAD-US 2 170558162 170558162 single base substitution A G intron_variant STAD-US 2 170591630 170591630 single base substitution A T intron_variant STAD-US 2 170591630 170591630 single base substitution A T missense_variant T36S 106A>T STAD-US 2 170591630 170591630 single base substitution A T upstream_gene_variant STAD-US 2 170591738 170591738 single base substitution G T intron_variant STAD-US 2 170591738 170591738 single base substitution G T stop_gained E72* 214G>T STAD-US 2 170591738 170591738 single base substitution G T upstream_gene_variant STAD-US 2 170591939 170591939 single base substitution T C intron_variant STAD-US 2 170591939 170591939 single base substitution T C missense_variant C139R 415T>C STAD-US 2 170591939 170591939 single base substitution T C upstream_gene_variant STAD-US 2 170592513 170592513 single base substitution C T intron_variant STAD-US 2 170592513 170592513 single base substitution C T missense_variant T151M 452C>T STAD-US 2 170592513 170592513 single base substitution C T missense_variant T330M 989C>T STAD-US 2 170592513 170592513 single base substitution C T upstream_gene_variant STAD-US 2 170592685 170592685 single base substitution G C intron_variant STAD-US 2 170592685 170592685 single base substitution G C missense_variant E208D 624G>C STAD-US 2 170592685 170592685 single base substitution G C missense_variant E387D 1161G>C STAD-US 2 170592685 170592685 single base substitution G C upstream_gene_variant STAD-US 2 170598014 170598014 single base substitution G A 5_prime_UTR_variant STAD-US 2 170598014 170598014 single base substitution G A exon_variant STAD-US 2 170598014 170598014 single base substitution G A missense_variant E266K 796G>A STAD-US 2 170598014 170598014 single base substitution G A missense_variant E445K 1333G>A STAD-US 2 170598014 170598014 single base substitution G A missense_variant E4K 10G>A UCEC-US 2 170557502 170557502 single base substitution T C intron_variant UCEC-US 2 170557699 170557699 single base substitution C A intron_variant UCEC-US 2 170557786 170557786 single base substitution C T intron_variant UCEC-US 2 170557988 170557988 single base substitution G A intron_variant UCEC-US 2 170558103 170558103 single base substitution C A intron_variant UCEC-US 2 170558163 170558163 single base substitution G A intron_variant UCEC-US 2 170591740 170591740 single base substitution A C intron_variant UCEC-US 2 170591740 170591740 single base substitution A C missense_variant E72D 216A>C UCEC-US 2 170591740 170591740 single base substitution A C upstream_gene_variant UCEC-US 2 170592000 170592000 single base substitution G A intron_variant UCEC-US 2 170592000 170592000 single base substitution G A missense_variant R159Q 476G>A UCEC-US 2 170592000 170592000 single base substitution G A upstream_gene_variant UCEC-US 2 170592003 170592003 single base substitution G T intron_variant UCEC-US 2 170592003 170592003 single base substitution G T missense_variant R160I 479G>T UCEC-US 2 170592003 170592003 single base substitution G T upstream_gene_variant UCEC-US 2 170592168 170592168 single base substitution G A intron_variant UCEC-US 2 170592168 170592168 single base substitution G A missense_variant R215Q 644G>A UCEC-US 2 170592168 170592168 single base substitution G A missense_variant R36Q 107G>A UCEC-US 2 170592208 170592208 single base substitution T G intron_variant UCEC-US 2 170592208 170592208 single base substitution T G missense_variant I228M 684T>G UCEC-US 2 170592208 170592208 single base substitution T G missense_variant I49M 147T>G UCEC-US 2 170592281 170592281 single base substitution C T intron_variant UCEC-US 2 170592281 170592281 single base substitution C T missense_variant R253C 757C>T UCEC-US 2 170592281 170592281 single base substitution C T missense_variant R74C 220C>T UCEC-US 2 170592350 170592350 single base substitution T C intron_variant UCEC-US 2 170592350 170592350 single base substitution T C missense_variant Y276H 826T>C UCEC-US 2 170592350 170592350 single base substitution T C missense_variant Y97H 289T>C UCEC-US 2 170592597 170592597 single base substitution C A intron_variant UCEC-US 2 170592597 170592597 single base substitution C A missense_variant A179D 536C>A UCEC-US 2 170592597 170592597 single base substitution C A missense_variant A358D 1073C>A UCEC-US 2 170592597 170592597 single base substitution C A upstream_gene_variant UCEC-US 2 170597966 170597966 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 2 170597966 170597966 single base substitution G T exon_variant UCEC-US 2 170597966 170597966 single base substitution G T stop_gained G250* 748G>T UCEC-US 2 170597966 170597966 single base substitution G T stop_gained G429* 1285G>T UCEC-US 2 170597966 170597966 single base substitution G T upstream_gene_variant UCEC-US 2 170598005 170598005 single base substitution G T 5_prime_UTR_variant UCEC-US 2 170598005 170598005 single base substitution G T exon_variant UCEC-US 2 170598005 170598005 single base substitution G T missense_variant D1Y 1G>T UCEC-US 2 170598005 170598005 single base substitution G T missense_variant D263Y 787G>T UCEC-US 2 170598005 170598005 single base substitution G T missense_variant D442Y 1324G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand YUKAT COSM5394920 c.1543G>A p.G515R Substitution - Missense 2:169749598-169749598 + PD4127a COSM162026 c.242C>T p.S81F Substitution - Missense 2:169735256-169735256 + TCGA-AU-6004-01 COSM1401117 c.111T>C p.D37D Substitution - coding silent 2:169735125-169735125 + 2492700 COSM5716183 c.1363C>T p.P455S Substitution - Missense 2:169741534-169741534 + CG4 COSM5422840 c.1231G>T p.A411S Substitution - Missense 2:169741402-169741402 + TCGA-BH-A0HF-01 COSM3837380 c.1083C>T p.Y361Y Substitution - coding silent 2:169736097-169736097 + TCGA-DA-A1IC-06 COSM3569850 c.955G>A p.G319R Substitution - Missense 2:169735969-169735969 + YUKLAB COSM1691379 c.1441T>C p.Y481H Substitution - Missense 2:169749496-169749496 + RH30SJ_ COSM3315408 c.212A>C p.K71T Substitution - Missense 2:169735226-169735226 + PTC-7C COSM4001317 c.1185A>G p.K395K Substitution - coding silent 2:169736199-169736199 + TCGA-BR-7959-01 COSM4086658 c.1333G>A p.E445K Substitution - Missense 2:169741504-169741504 + HT115 COSM3315442 c.1565C>T p.T522M Substitution - Missense 2:169749620-169749620 + I2L-P19Tb-Tumor-Biopsy COSM5354360 c.619T>C p.W207R Substitution - Missense 2:169735633-169735633 + LUAD_E00565 COSM389380 c.1168G>A p.D390N Substitution - Missense 2:169736182-169736182 + TCGA-AG-A002-01 COSM261697 c.728G>T p.R243I Substitution - Missense 2:169735742-169735742 + YUKLAB COSM1691380 c.1570C>T p.L524F Substitution - Missense 2:169749625-169749625 + GC_299T1-GC_299N COSM4772479 c.731G>C p.S244T Substitution - Missense 2:169735745-169735745 + TCGA-18-5592-01 COSM717791 c.314G>T p.R105I Substitution - Missense 2:169735328-169735328 + TCGA-AG-3726-01 COSM5067094 c.677T>A p.I226N Substitution - Missense 2:169735691-169735691 + TCGA-CD-5801-01 COSM4086657 c.1161G>C p.E387D Substitution - Missense 2:169736175-169736175 + SNU-C2B COSM3315443 c.1673T>A p.V558D Substitution - Missense 2:169749728-169749728 + TCGA-FS-A1ZE-06 COSM3569849 c.931G>A p.E311K Substitution - Missense 2:169735945-169735945 + HCC2998 COSM1669405 c.1187G>T p.W396L Substitution - Missense 2:169736201-169736201 + CSCC-27-T COSM4463184 c.127C>T p.P43S Substitution - Missense 2:169735141-169735141 + TCGA-C8-A131-01 COSM441479 c.742A>C p.T248P Substitution - Missense 2:169735756-169735756 + E71 COSM1717616 c.706A>G p.K236E Substitution - Missense 2:169735720-169735720 + 2492702 COSM5716183 c.1363C>T p.P455S Substitution - Missense 2:169741534-169741534 + LUAD-YINHD COSM350410 c.1429A>G p.I477V Substitution - Missense 2:169749484-169749484 + 11M COSM5576937 c.649G>A p.E217K Substitution - Missense 2:169735663-169735663 + GCT27 COSM5749326 c.214G>A p.E72K Substitution - Missense 2:169735228-169735228 + TCGA-G5-6233-01 COSM3425447 c.1651G>T p.G551W Substitution - Missense 2:169749706-169749706 + TCGA-BS-A0UV-01 COSM1009359 c.684T>G p.I228M Substitution - Missense 2:169735698-169735698 + CSCC-18-T COSM4527517 c.1470G>A p.E490E Substitution - coding silent 2:169749525-169749525 + TCGA-G4-6320-01 COSM3694971 c.1208T>C p.I403T Substitution - Missense 2:169736222-169736222 + HCC047T COSM5816103 c.749A>G p.N250S Substitution - Missense 2:169735763-169735763 + 587222 COSM1212623 c.298A>C p.I100L Substitution - Missense 2:169735312-169735312 + 813T COSM5824723 c.1552T>A p.Y518N Substitution - Missense 2:169749607-169749607 + TCGA-AA-A010-01 COSM282278 c.520G>T p.E174* Substitution - Nonsense 2:169735534-169735534 + SNUH_G73_S1 COSM4001317 c.1185A>G p.K395K Substitution - coding silent 2:169736199-169736199 + TCGA-A5-A0VP-01 COSM1009361 c.826T>C p.Y276H Substitution - Missense 2:169735840-169735840 + ESCC_91 COSM5636907 c.445C>T p.H149Y Substitution - Missense 2:169735459-169735459 + HCC008T COSM5807437 c.1020G>C p.W340C Substitution - Missense 2:169736034-169736034 + TCGA-D1-A103-01 COSM1009362 c.1073C>A p.A358D Substitution - Missense 2:169736087-169736087 + TCGA-CA-6718-01 COSM1009357 c.479G>T p.R160I Substitution - Missense 2:169735493-169735493 + LP6007520-DNA_A01 COSM4413120 c.246C>A p.G82G Substitution - coding silent 2:169735260-169735260 + TCGA-BR-8680-01 COSM4086654 c.214G>T p.E72* Substitution - Nonsense 2:169735228-169735228 + 587222 COSM1212624 c.995A>C p.N332T Substitution - Missense 2:169736009-169736009 + TCGA-A2-A0T5-01 COSM3837379 c.814A>C p.T272P Substitution - Missense 2:169735828-169735828 + Gp5D COSM3315425 c.769T>C p.Y257H Substitution - Missense 2:169735783-169735783 + sysucc-882T COSM5447422 c.1216G>C p.V406L Substitution - Missense 2:169741387-169741387 + TCGA-B5-A11E-01 COSM1009356 c.476G>A p.R159Q Substitution - Missense 2:169735490-169735490 + HCC133T COSM1613668 c.1201A>C p.N401H Substitution - Missense 2:169736215-169736215 + LUAD-S01306 COSM343606 c.1642C>T p.R548W Substitution - Missense 2:169749697-169749697 + TCGA-DS-A1OC-01 COSM1293949 c.1411G>T p.V471F Substitution - Missense 2:169749466-169749466 + XHDG38 COSM4769693 c.463G>C p.E155Q Substitution - Missense 2:169735477-169735477 + pfg146T COSM4763534 c.721C>T p.L241F Substitution - Missense 2:169735735-169735735 + CSCC-37-T COSM4489595 c.34C>T p.L12F Substitution - Missense 2:169735048-169735048 + HCC76 COSM3709055 c.1625A>G p.N542S Substitution - Missense 2:169749680-169749680 + TCGA-D3-A1Q6-06 COSM3569848 c.617A>G p.K206R Substitution - Missense 2:169735631-169735631 + TCGA-AH-6544-01 COSM1564694 c.1063A>G p.M355V Substitution - Missense 2:169736077-169736077 + TCGA-BH-A0AV-01 COSM441478 c.643C>G p.R215G Substitution - Missense 2:169735657-169735657 + TCGA-DK-A3WW-01 COSM3798168 c.1544G>T p.G515V Substitution - Missense 2:169749599-169749599 + TCGA-D1-A17Q-01 COSM1009358 c.644G>A p.R215Q Substitution - Missense 2:169735658-169735658 + RK053_C01 COSM3743316 c.139A>G p.I47V Substitution - Missense 2:169735153-169735153 + TCGA-C5-A3HE-01 COSM4827638 c.301G>C p.E101Q Substitution - Missense 2:169735315-169735315 + LUAD-D01603 COSM337743 c.1003G>A p.A335T Substitution - Missense 2:169736017-169736017 + TCGA-EK-A3GK-01 COSM4854347 c.664C>T p.L222L Substitution - coding silent 2:169735678-169735678 + PT36 COSM5914957 c.589G>A p.E197K Substitution - Missense 2:169735603-169735603 + cSCCP6 COSM136286 c.1478C>T p.P493L Substitution - Missense 2:169749533-169749533 + TCGA-AA-3663-01 COSM1401118 c.383G>A p.R128Q Substitution - Missense 2:169735397-169735397 + Gp2D COSM3315425 c.769T>C p.Y257H Substitution - Missense 2:169735783-169735783 + CCK81 COSM3315413 c.260T>C p.I87T Substitution - Missense 2:169735274-169735274 + TCGA-AG-A00Y-01 COSM3743316 c.139A>G p.I47V Substitution - Missense 2:169735153-169735153 + CSCC-10-T COSM4494438 c.432C>T p.S144S Substitution - coding silent 2:169735446-169735446 + ZZUFHECRKL-G054T COSM4763534 c.721C>T p.L241F Substitution - Missense 2:169735735-169735735 + SWE-12 COSM1178852 c.773A>G p.N258S Substitution - Missense 2:169735787-169735787 + sysucc-274T COSM5476247 c.1161G>A p.E387E Substitution - coding silent 2:169736175-169736175 + NCI-H727 COSM5368120 c.1357C>A p.P453T Substitution - Missense 2:169741528-169741528 + H358 COSM1194052 c.758G>T p.R253L Substitution - Missense 2:169735772-169735772 + 01-P034 COSM4582795 c.1413C>T p.V471V Substitution - coding silent 2:169749468-169749468 + TCGA-AP-A0LM-01 COSM1009355 c.216A>C p.E72D Substitution - Missense 2:169735230-169735230 + TCGA-DS-A0VK-01 COSM461302 c.55C>G p.P19A Substitution - Missense 2:169735069-169735069 + Pat_27_B COSM5860554 c.473C>T p.S158F Substitution - Missense 2:169735487-169735487 + TCGA-EE-A2MR-06 COSM3569847 c.144C>A p.F48L Substitution - Missense 2:169735158-169735158 + HT115 COSM282278 c.520G>T p.E174* Substitution - Nonsense 2:169735534-169735534 + TCGA-LL-A5YP-01 COSM4391518 c.1013C>A p.T338K Substitution - Missense 2:169736027-169736027 + A9 COSM5350726 c.1573C>G p.Q525E Substitution - Missense 2:169749628-169749628 + CSCC-16-T COSM4453312 c.277A>G p.N93D Substitution - Missense 2:169735291-169735291 + 2492703 COSM5716183 c.1363C>T p.P455S Substitution - Missense 2:169741534-169741534 + MedB-1 COSM5621131 c.1402C>T p.L468F Substitution - Missense 2:169749457-169749457 + I2L-P19Tb-Tumor-Organoid COSM5354360 c.619T>C p.W207R Substitution - Missense 2:169735633-169735633 + TCGA-66-2771-01 COSM717789 c.1206G>C p.M402I Substitution - Missense 2:169736220-169736220 + TCGA-BR-8363-01 COSM4086656 c.989C>T p.T330M Substitution - Missense 2:169736003-169736003 + 2492701 COSM5716183 c.1363C>T p.P455S Substitution - Missense 2:169741534-169741534 + TCGA-34-2596-01 COSM717790 c.1075A>T p.R359W Substitution - Missense 2:169736089-169736089 + LUAD-S01315 COSM385675 c.1459G>C p.E487Q Substitution - Missense 2:169749514-169749514 + TCGA-AK-3447-01 COSM1494649 c.1332C>T p.N444N Substitution - coding silent 2:169741503-169741503 + TCGA-F5-6814-01 COSM3425445 c.1182G>T p.E394D Substitution - Missense 2:169736196-169736196 + 406 COSM4430207 c.177C>A p.S59R Substitution - Missense 2:169735191-169735191 + RK004_C01 COSM1631441 c.418A>G p.I140V Substitution - Missense 2:169735432-169735432 + TCGA-BS-A0TI-01 COSM1009360 c.757C>T p.R253C Substitution - Missense 2:169735771-169735771 + TCGA-AA-A00N-01 COSM275760 c.745G>A p.E249K Substitution - Missense 2:169735759-169735759 + 2217540 COSM4421684 c.839G>T p.G280V Substitution - Missense 2:169735853-169735853 + Pat_66_A COSM5860555 c.1459G>A p.E487K Substitution - Missense 2:169749514-169749514 + SNUH_G26_S1 COSM4001317 c.1185A>G p.K395K Substitution - coding silent 2:169736199-169736199 + MINO COSM1738763 c.758G>A p.R253H Substitution - Missense 2:169735772-169735772 + TCGA-CF-A1HR-01 COSM418485 c.1302C>A p.D434E Substitution - Missense 2:169741473-169741473 + TCGA-CL-4957-01 COSM1738763 c.758G>A p.R253H Substitution - Missense 2:169735772-169735772 + 90983 COSM329464 c.763C>G p.L255V Substitution - Missense 2:169735777-169735777 + TCGA-F5-6814-01 COSM3425446 c.1525T>C p.C509R Substitution - Missense 2:169749580-169749580 + CSCC-16-T COSM3569850 c.955G>A p.G319R Substitution - Missense 2:169735969-169735969 + TCGA-B5-A11N-01 COSM1009357 c.479G>T p.R160I Substitution - Missense 2:169735493-169735493 + LUAD-F00257 COSM391692 c.1218delG p.G407fs*64 Deletion - Frameshift 2:169741389-169741389 + HCC2998 COSM1669405 c.1187G>T p.W396L Substitution - Missense 2:169736201-169736201 + SNUH_G76_S1 COSM4001317 c.1185A>G p.K395K Substitution - coding silent 2:169736199-169736199 + HCC133 COSM1613668 c.1201A>C p.N401H Substitution - Missense 2:169736215-169736215 + TCGA-BR-8680-01 COSM4086655 c.415T>C p.C139R Substitution - Missense 2:169735429-169735429 + TCGA-D1-A167-01 COSM1009363 c.1285G>T p.G429* Substitution - Nonsense 2:169741456-169741456 + HCC76T COSM3709055 c.1625A>G p.N542S Substitution - Missense 2:169749680-169749680 + TCGA-D7-6817-01 COSM4086653 c.106A>T p.T36S Substitution - Missense 2:169735120-169735120 + TCGA-BS-A0UF-01 COSM1009364 c.1324G>T p.D442Y Substitution - Missense 2:169741495-169741495 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.655150 2q31.1 1190679|dbSNP|BC010437|C/T|non-coding||2720|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I449L c.1345A>C 2 170598026 CM A C Missense p.T248P c.742A>C 2 170592266 BRCA A G Missense p.I140V c.418A>G 2 170591942 HC A G Missense p.K206R c.617A>G 2 170592141 CM A T Missense p.R359W c.1075A>T 2 170592599 LUSC A T Missense p.T36S c.106A>T 2 170591630 STAD A T Synonymous p.T296T c.888A>T 2 170592412 LUAD C G Missense p.I226M c.678C>G 2 170592202 HNSC C G Missense p.R215G c.643C>G 2 170592167 BRCA C T 3-UTRSNV . c.1674+81C>T 2 170606320 CM CTAGAGAAGGAAT - Frameshift p.K156Efs*42 c.462_474delAGAGAAGGAATCT 2 170591984 CM C T Missense p.P391L c.1172C>T 2 170592696 CM C T Missense p.R253C c.757C>T 2 170592281 UCEC C T Missense p.S254F c.761C>T 2 170592285 CM C T Missense p.S81F c.242C>T 2 170591766 BRCA G A Missense p.D442N c.1324G>A 2 170598005 HNSC G A Missense p.E311K c.931G>A 2 170592455 CM G A Missense p.G319R c.955G>A 2 170592479 CM G A Synonymous p.G326G c.978G>A 2 170592502 CM G C Missense p.E387D c.1161G>C 2 170592685 STAD G C Missense p.M402I c.1206G>C 2 170592730 LUSC G T Missense p.R105I c.314G>T 2 170591838 LUSC G T Missense p.W396L c.1187G>T 2 170592711 HNSC T C Missense p.F26S c.77T>C 2 170591601 HNSC T C Missense p.Y276H c.826T>C 2 170592350 UCEC - T IntronicInsertion . c.1367-1721dupT 2 170604211 CM TT GC MultiAAMissense p.I47_F48delinsML c.141_142delinsGC 2 170591665 CM