Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 9 6460639 6460639 + Missense_Mutation SNP G G C TCGA-OR-A5L2-01A-11D-A30A-10 TCGA-OR-A5L2-10A-01D-A30A-10 g.chr9:6460639G>C c.711G>C c.(709-711)ttG>ttC p.L237F ACC 9 6460721 6460721 + Missense_Mutation SNP G G C TCGA-OR-A5L2-01A-11D-A30A-10 TCGA-OR-A5L2-10A-01D-A30A-10 g.chr9:6460721G>C c.793G>C c.(793-795)Gat>Cat p.D265H BLCA 9 6413549 6413549 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr9:6413549C>G c.59C>G c.(58-60)tCt>tGt p.S20C BLCA 9 6413598 6413598 + Silent SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr9:6413598C>T c.108C>T c.(106-108)ttC>ttT p.F36F BLCA 9 6433993 6433993 + Missense_Mutation SNP C C G TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr9:6433993C>G c.464C>G c.(463-465)tCt>tGt p.S155C BLCA 9 6434074 6434074 + Missense_Mutation SNP C C T TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr9:6434074C>T c.545C>T c.(544-546)tCc>tTc p.S182F BLCA 9 6460580 6460580 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr9:6460580G>C c.652G>C c.(652-654)Gaa>Caa p.E218Q BLCA 9 6481669 6481669 + Missense_Mutation SNP C C T TCGA-XF-AAMR-01A-31D-A42E-08 TCGA-XF-AAMR-10A-01D-A42H-08 g.chr9:6481669C>T c.1187C>T c.(1186-1188)tCc>tTc p.S396F BLCA 9 6486893 6486893 + Missense_Mutation SNP C C G TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr9:6486893C>G c.1465C>G c.(1465-1467)Ctt>Gtt p.L489V BLCA 9 6506090 6506090 + Missense_Mutation SNP G G A TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr9:6506090G>A c.2320G>A c.(2320-2322)Gat>Aat p.D774N BLCA 9 6506103 6506103 + Missense_Mutation SNP A A G TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr9:6506103A>G c.2333A>G c.(2332-2334)aAt>aGt p.N778S BRCA 9 6421074 6421074 + Missense_Mutation SNP G G C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 g.chr9:6421074G>C c.316G>C c.(316-318)Gga>Cga p.G106R BRCA 9 6477776 6477776 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr9:6477776A>C c.1128A>C c.(1126-1128)ccA>ccC p.P376P CESC 9 6421009 6421009 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr9:6421009C>G c.251C>G c.(250-252)tCt>tGt p.S84C CESC 9 6434113 6434113 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 g.chr9:6434113C>T c.584C>T c.(583-585)aCg>aTg p.T195M CESC 9 6434148 6434148 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 g.chr9:6434148G>A c.619G>A c.(619-621)Gtt>Att p.V207I CESC 9 6497316 6497316 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr9:6497316A>G c.1723A>G c.(1723-1725)Aaa>Gaa p.K575E COAD 9 6413561 6413561 + Missense_Mutation SNP C C T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr9:6413561C>T c.71C>T c.(70-72)aCg>aTg p.T24M COAD 9 6460623 6460623 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr9:6460623G>A c.695G>A c.(694-696)cGa>cAa p.R232Q COAD 9 6460659 6460659 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr9:6460659T>C c.731T>C c.(730-732)gTt>gCt p.V244A COAD 9 6475442 6475442 + Silent SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr9:6475442C>T c.915C>T c.(913-915)atC>atT p.I305I COAD 9 6477754 6477754 + Missense_Mutation SNP A A T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr9:6477754A>T c.1106A>T c.(1105-1107)tAt>tTt p.Y369F COAD 9 6481759 6481759 + Frame_Shift_Del DEL G G - TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr9:6481759delG c.1277delG c.(1276-1278)tggfs p.W426fs COAD 9 6497290 6497290 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr9:6497290G>A c.1697G>A c.(1696-1698)cGc>cAc p.R566H COAD 9 6498129 6498129 + Missense_Mutation SNP C C T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr9:6498129C>T c.1879C>T c.(1879-1881)Cgg>Tgg p.R627W COADREAD 9 6413561 6413561 + Missense_Mutation SNP C C T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr9:6413561C>T c.71C>T c.(70-72)aCg>aTg p.T24M COADREAD 9 6460623 6460623 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr9:6460623G>A c.695G>A c.(694-696)cGa>cAa p.R232Q COADREAD 9 6460659 6460659 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr9:6460659T>C c.731T>C c.(730-732)gTt>gCt p.V244A COADREAD 9 6475442 6475442 + Silent SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr9:6475442C>T c.915C>T c.(913-915)atC>atT p.I305I COADREAD 9 6477754 6477754 + Missense_Mutation SNP A A T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr9:6477754A>T c.1106A>T c.(1105-1107)tAt>tTt p.Y369F COADREAD 9 6481759 6481759 + Frame_Shift_Del DEL G G - TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr9:6481759delG c.1277delG c.(1276-1278)tggfs p.W426fs COADREAD 9 6497290 6497290 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr9:6497290G>A c.1697G>A c.(1696-1698)cGc>cAc p.R566H COADREAD 9 6498129 6498129 + Missense_Mutation SNP C C T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr9:6498129C>T c.1879C>T c.(1879-1881)Cgg>Tgg p.R627W COADREAD 9 6504639 6504639 + Missense_Mutation SNP A A G TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr9:6504639A>G c.2210A>G c.(2209-2211)cAg>cGg p.Q737R DLBC 9 6413498 6413498 + Missense_Mutation SNP T T A TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr9:6413498T>A c.8T>A c.(7-9)aTa>aAa p.I3K DLBC 9 6413513 6413513 + Frame_Shift_Del DEL T T - TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr9:6413513delT c.23delT c.(22-24)attfs p.I8fs DLBC 9 6413515 6413515 + Missense_Mutation SNP G G C TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr9:6413515G>C c.25G>C c.(25-27)Gat>Cat p.D9H DLBC 9 6413558 6413558 + Missense_Mutation SNP C C G TCGA-FF-8061-01A-11D-2210-10 TCGA-FF-8061-10A-01D-2210-10 g.chr9:6413558C>G c.68C>G c.(67-69)gCc>gGc p.A23G DLBC 9 6413640 6413640 + Silent SNP G G A TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr9:6413640G>A c.150G>A c.(148-150)aaG>aaA p.K50K DLBC 9 6413643 6413643 + Splice_Site SNP G G A TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr9:6413643G>A c.153G>A c.(151-153)caG>caA p.Q51Q ESCA 9 6420988 6420988 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 g.chr9:6420988C>A c.230C>A c.(229-231)cCt>cAt p.P77H GBM 9 6413501 6413501 + Missense_Mutation SNP A A G TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 g.chr9:6413501A>G c.11A>G c.(10-12)cAg>cGg p.Q4R GBMLGG 9 6413501 6413501 + Missense_Mutation SNP A A G TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 g.chr9:6413501A>G c.11A>G c.(10-12)cAg>cGg p.Q4R GBMLGG 9 6497275 6497278 + Frame_Shift_Del DEL CAGT CAGT - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 g.chr9:6497275_6497278delCAGT c.1682_1685delCAGT c.(1681-1686)ccagtcfs p.PV561fs GBMLGG 9 6499916 6499916 + Missense_Mutation SNP A A G TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 g.chr9:6499916A>G c.1990A>G c.(1990-1992)Agg>Ggg p.R664G HNSC 9 6460620 6460620 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chr9:6460620C>T c.692C>T c.(691-693)cCa>cTa p.P231L HNSC 9 6460622 6460622 + Nonsense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 g.chr9:6460622C>T c.694C>T c.(694-696)Cga>Tga p.R232* HNSC 9 6506129 6506129 + Missense_Mutation SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chr9:6506129C>G c.2359C>G c.(2359-2361)Ctg>Gtg p.L787V HNSC 9 6506134 6506134 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr9:6506134G>A c.2364G>A c.(2362-2364)caG>caA p.Q788Q KICH 9 6460652 6460652 + Silent SNP C C T TCGA-KL-8335-01A-11D-2310-10 TCGA-KL-8335-11A-01D-2310-10 g.chr9:6460652C>T c.724C>T c.(724-726)Cta>Tta p.L242L KIPAN 9 6420922 6420922 + Missense_Mutation SNP G G T TCGA-F9-A8NY-01A-11D-A35Z-10 TCGA-F9-A8NY-10A-01D-A35Z-10 g.chr9:6420922G>T c.164G>T c.(163-165)gGa>gTa p.G55V KIPAN 9 6420934 6420934 + Missense_Mutation SNP T T C TCGA-B0-5108-01A-01D-1421-08 TCGA-B0-5108-11A-01D-1421-08 g.chr9:6420934T>C c.176T>C c.(175-177)tTt>tCt p.F59S KIPAN 9 6420988 6420988 + Missense_Mutation SNP C C G TCGA-A3-3362-01A-02D-1386-10 TCGA-A3-3362-11A-01D-1251-10 g.chr9:6420988C>G c.230C>G c.(229-231)cCt>cGt p.P77R KIPAN 9 6460652 6460652 + Silent SNP C C T TCGA-KL-8335-01A-11D-2310-10 TCGA-KL-8335-11A-01D-2310-10 g.chr9:6460652C>T c.724C>T c.(724-726)Cta>Tta p.L242L KIRC 9 6420934 6420934 + Missense_Mutation SNP T T C TCGA-B0-5108-01A-01D-1421-08 TCGA-B0-5108-11A-01D-1421-08 g.chr9:6420934T>C c.176T>C c.(175-177)tTt>tCt p.F59S KIRC 9 6420988 6420988 + Missense_Mutation SNP C C G TCGA-A3-3362-01A-02D-1386-10 TCGA-A3-3362-11A-01D-1251-10 g.chr9:6420988C>G c.230C>G c.(229-231)cCt>cGt p.P77R KIRP 9 6420922 6420922 + Missense_Mutation SNP G G T TCGA-F9-A8NY-01A-11D-A35Z-10 TCGA-F9-A8NY-10A-01D-A35Z-10 g.chr9:6420922G>T c.164G>T c.(163-165)gGa>gTa p.G55V LGG 9 6497275 6497278 + Frame_Shift_Del DEL CAGT CAGT - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 g.chr9:6497275_6497278delCAGT c.1682_1685delCAGT c.(1681-1686)ccagtcfs p.PV561fs LGG 9 6499916 6499916 + Missense_Mutation SNP A A G TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 g.chr9:6499916A>G c.1990A>G c.(1990-1992)Agg>Ggg p.R664G LIHC 9 6481676 6481676 + Silent SNP A A G TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr9:6481676A>G c.1194A>G c.(1192-1194)gaA>gaG p.E398E LIHC 9 6493855 6493855 + Silent SNP A A G TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr9:6493855A>G c.1527A>G c.(1525-1527)ggA>ggG p.G509G LUAD 9 6433943 6433943 + Silent SNP C C T TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr9:6433943C>T c.414C>T c.(412-414)gtC>gtT p.V138V LUAD 9 6477747 6477747 + Missense_Mutation SNP G G A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr9:6477747G>A c.1099G>A c.(1099-1101)Gtg>Atg p.V367M LUAD 9 6477774 6477774 + Missense_Mutation SNP C C A TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr9:6477774C>A c.1126C>A c.(1126-1128)Cca>Aca p.P376T LUAD 9 6486881 6486881 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr9:6486881G>T c.1453G>T c.(1453-1455)Ggg>Tgg p.G485W LUAD 9 6499927 6499927 + Silent SNP A A G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 g.chr9:6499927A>G c.2001A>G c.(1999-2001)tcA>tcG p.S667S LUAD 9 6504600 6504600 + Missense_Mutation SNP T T A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr9:6504600T>A c.2171T>A c.(2170-2172)cTg>cAg p.L724Q LUAD 9 6506037 6506037 + Missense_Mutation SNP G G C TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr9:6506037G>C c.2267G>C c.(2266-2268)tGc>tCc p.C756S LUAD 9 6506175 6506175 + Missense_Mutation SNP G G A TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chr9:6506175G>A c.2405G>A c.(2404-2406)cGa>cAa p.R802Q LUSC 9 6460735 6460735 + Silent SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr9:6460735C>A c.807C>A c.(805-807)acC>acA p.T269T PAAD 9 6477759 6477759 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:6477759A>G c.1111A>G c.(1111-1113)Att>Gtt p.I371V PRAD 9 6460608 6460608 + Missense_Mutation SNP A A G TCGA-XK-AAJ3-01A-11D-A41K-08 TCGA-XK-AAJ3-10A-01D-A41N-08 g.chr9:6460608A>G c.680A>G c.(679-681)aAg>aGg p.K227R PRAD 9 6504676 6504676 + Silent SNP C C T TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 g.chr9:6504676C>T c.2247C>T c.(2245-2247)ttC>ttT p.F749F READ 9 6504639 6504639 + Missense_Mutation SNP A A G TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr9:6504639A>G c.2210A>G c.(2209-2211)cAg>cGg p.Q737R SKCM 9 6460786 6460786 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr9:6460786C>T c.858C>T c.(856-858)ttC>ttT p.F286F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 9 6480646 6480646 single base substitution G T downstream_gene_variant BOCA-FR 9 6480646 6480646 single base substitution G T intron_variant BOCA-FR 9 6480646 6480646 single base substitution G T upstream_gene_variant BRCA-EU 9 6408332 6408332 single base substitution C T upstream_gene_variant BRCA-EU 9 6408940 6408940 single base substitution T A upstream_gene_variant BRCA-EU 9 6409062 6409062 single base substitution G A upstream_gene_variant BRCA-EU 9 6409196 6409196 single base substitution G T upstream_gene_variant BRCA-EU 9 6409485 6409485 single base substitution A C upstream_gene_variant BRCA-EU 9 6409943 6409943 single base substitution G C upstream_gene_variant BRCA-EU 9 6411567 6411567 single base substitution A T upstream_gene_variant BRCA-EU 9 6412776 6412776 single base substitution C G upstream_gene_variant BRCA-EU 9 6413804 6413804 single base substitution C G exon_variant BRCA-EU 9 6413804 6413804 single base substitution C G intron_variant BRCA-EU 9 6413804 6413804 single base substitution C G upstream_gene_variant BRCA-EU 9 6414234 6414234 single base substitution C T intron_variant BRCA-EU 9 6418006 6418006 single base substitution A G intron_variant BRCA-EU 9 6418006 6418006 single base substitution A G upstream_gene_variant BRCA-EU 9 6418315 6418315 single base substitution C G intron_variant BRCA-EU 9 6418315 6418315 single base substitution C G upstream_gene_variant BRCA-EU 9 6418373 6418373 single base substitution G T intron_variant BRCA-EU 9 6418373 6418373 single base substitution G T upstream_gene_variant BRCA-EU 9 6418743 6418743 single base substitution C T intron_variant BRCA-EU 9 6418743 6418743 single base substitution C T upstream_gene_variant BRCA-EU 9 6419462 6419462 deletion of <=200bp T - intron_variant BRCA-EU 9 6419462 6419462 deletion of <=200bp T - upstream_gene_variant BRCA-EU 9 6419911 6419911 single base substitution T A intron_variant BRCA-EU 9 6419911 6419911 single base substitution T A upstream_gene_variant BRCA-EU 9 6422909 6422909 single base substitution G A 3_prime_UTR_variant BRCA-EU 9 6422909 6422909 single base substitution G A intron_variant BRCA-EU 9 6423755 6423755 single base substitution C T downstream_gene_variant BRCA-EU 9 6423755 6423755 single base substitution C T intron_variant BRCA-EU 9 6424404 6424404 single base substitution G T downstream_gene_variant BRCA-EU 9 6424404 6424404 single base substitution G T intron_variant BRCA-EU 9 6424697 6424697 single base substitution G C downstream_gene_variant BRCA-EU 9 6424697 6424697 single base substitution G C intron_variant BRCA-EU 9 6424952 6424952 single base substitution C G downstream_gene_variant BRCA-EU 9 6424952 6424952 single base substitution C G intron_variant BRCA-EU 9 6425228 6425228 single base substitution A C downstream_gene_variant BRCA-EU 9 6425228 6425228 single base substitution A C intron_variant BRCA-EU 9 6426082 6426082 single base substitution T G downstream_gene_variant BRCA-EU 9 6426082 6426082 single base substitution T G intron_variant BRCA-EU 9 6426561 6426561 single base substitution G A downstream_gene_variant BRCA-EU 9 6426561 6426561 single base substitution G A intron_variant BRCA-EU 9 6429435 6429435 single base substitution G A intron_variant BRCA-EU 9 6429435 6429435 single base substitution G A upstream_gene_variant BRCA-EU 9 6430840 6430840 single base substitution C T intron_variant BRCA-EU 9 6430840 6430840 single base substitution C T upstream_gene_variant BRCA-EU 9 6431082 6431083 deletion of <=200bp GC - intron_variant BRCA-EU 9 6431082 6431083 deletion of <=200bp GC - upstream_gene_variant BRCA-EU 9 6433128 6433128 single base substitution C T intron_variant BRCA-EU 9 6433128 6433128 single base substitution C T upstream_gene_variant BRCA-EU 9 6433425 6433425 deletion of <=200bp T - intron_variant BRCA-EU 9 6433425 6433425 deletion of <=200bp T - upstream_gene_variant BRCA-EU 9 6433425 6433426 deletion of <=200bp TT - intron_variant BRCA-EU 9 6433425 6433426 deletion of <=200bp TT - upstream_gene_variant BRCA-EU 9 6434195 6434195 single base substitution G T downstream_gene_variant BRCA-EU 9 6434195 6434195 single base substitution G T exon_variant BRCA-EU 9 6434195 6434195 single base substitution G T intron_variant BRCA-EU 9 6435467 6435467 single base substitution T C downstream_gene_variant BRCA-EU 9 6435467 6435467 single base substitution T C intron_variant BRCA-EU 9 6435905 6435905 single base substitution G C downstream_gene_variant BRCA-EU 9 6435905 6435905 single base substitution G C intron_variant BRCA-EU 9 6436354 6436354 single base substitution T A downstream_gene_variant BRCA-EU 9 6436354 6436354 single base substitution T A intron_variant BRCA-EU 9 6438500 6438500 single base substitution G T downstream_gene_variant BRCA-EU 9 6438500 6438500 single base substitution G T intron_variant BRCA-EU 9 6439099 6439099 single base substitution G C downstream_gene_variant BRCA-EU 9 6439099 6439099 single base substitution G C intron_variant BRCA-EU 9 6439974 6439976 deletion of <=200bp TTC - intron_variant BRCA-EU 9 6440182 6440182 single base substitution G A intron_variant BRCA-EU 9 6442371 6442371 single base substitution C A intron_variant BRCA-EU 9 6444606 6444606 deletion of <=200bp T - intron_variant BRCA-EU 9 6446440 6446440 single base substitution G A intron_variant BRCA-EU 9 6446746 6446746 single base substitution G A intron_variant BRCA-EU 9 6446943 6446943 single base substitution C A intron_variant BRCA-EU 9 6447150 6447150 single base substitution A G intron_variant BRCA-EU 9 6449694 6449694 single base substitution T C intron_variant BRCA-EU 9 6451881 6451881 single base substitution T C intron_variant BRCA-EU 9 6453207 6453207 single base substitution C A intron_variant BRCA-EU 9 6453372 6453372 single base substitution G A intron_variant BRCA-EU 9 6456521 6456521 single base substitution C A intron_variant BRCA-EU 9 6457261 6457261 single base substitution T G intron_variant BRCA-EU 9 6457264 6457264 single base substitution T A intron_variant BRCA-EU 9 6457965 6457965 single base substitution T A intron_variant BRCA-EU 9 6458486 6458486 single base substitution C G intron_variant BRCA-EU 9 6459889 6459889 single base substitution C T intron_variant BRCA-EU 9 6459956 6459956 single base substitution G C intron_variant BRCA-EU 9 6460862 6460862 single base substitution A T downstream_gene_variant BRCA-EU 9 6460862 6460862 single base substitution A T intron_variant BRCA-EU 9 6464173 6464173 single base substitution C T downstream_gene_variant BRCA-EU 9 6464173 6464173 single base substitution C T intron_variant BRCA-EU 9 6465469 6465469 single base substitution G T downstream_gene_variant BRCA-EU 9 6465469 6465469 single base substitution G T intron_variant BRCA-EU 9 6465678 6465678 single base substitution T C intron_variant BRCA-EU 9 6466530 6466530 single base substitution A T intron_variant BRCA-EU 9 6470460 6470460 single base substitution G C intron_variant BRCA-EU 9 6470639 6470639 deletion of <=200bp A - intron_variant BRCA-EU 9 6471275 6471275 single base substitution G A intron_variant BRCA-EU 9 6471305 6471305 single base substitution T C intron_variant BRCA-EU 9 6472319 6472319 single base substitution G A intron_variant BRCA-EU 9 6472840 6472840 single base substitution G C intron_variant BRCA-EU 9 6474909 6474909 single base substitution T A intron_variant BRCA-EU 9 6475339 6475339 single base substitution T A intron_variant BRCA-EU 9 6475996 6475996 single base substitution C G intron_variant BRCA-EU 9 6480398 6480398 single base substitution C T downstream_gene_variant BRCA-EU 9 6480398 6480398 single base substitution C T intron_variant BRCA-EU 9 6480398 6480398 single base substitution C T upstream_gene_variant BRCA-EU 9 6480987 6480987 single base substitution A T downstream_gene_variant BRCA-EU 9 6480987 6480987 single base substitution A T intron_variant BRCA-EU 9 6480987 6480987 single base substitution A T upstream_gene_variant BRCA-EU 9 6483135 6483135 single base substitution C T intron_variant BRCA-EU 9 6483135 6483135 single base substitution C T upstream_gene_variant BRCA-EU 9 6483467 6483467 single base substitution T C intron_variant BRCA-EU 9 6483467 6483467 single base substitution T C upstream_gene_variant BRCA-EU 9 6485306 6485306 single base substitution C T intron_variant BRCA-EU 9 6485306 6485306 single base substitution C T upstream_gene_variant BRCA-EU 9 6486839 6486839 single base substitution C A exon_variant BRCA-EU 9 6486839 6486839 single base substitution C A missense_variant H471N 1411C>A BRCA-EU 9 6486839 6486839 single base substitution C A upstream_gene_variant BRCA-EU 9 6487363 6487363 single base substitution A C intron_variant BRCA-EU 9 6488843 6488843 single base substitution C T intron_variant BRCA-EU 9 6489668 6489668 insertion of <=200bp - TATAGCCTCT intron_variant BRCA-EU 9 6489894 6489894 single base substitution C T intron_variant BRCA-EU 9 6493261 6493261 single base substitution G A downstream_gene_variant BRCA-EU 9 6493261 6493261 single base substitution G A intron_variant BRCA-EU 9 6493261 6493261 single base substitution G A upstream_gene_variant BRCA-EU 9 6494189 6494189 single base substitution A T downstream_gene_variant BRCA-EU 9 6494189 6494189 single base substitution A T exon_variant BRCA-EU 9 6494189 6494189 single base substitution A T intron_variant BRCA-EU 9 6494189 6494189 single base substitution A T upstream_gene_variant BRCA-EU 9 6496625 6496625 single base substitution G T downstream_gene_variant BRCA-EU 9 6496625 6496625 single base substitution G T exon_variant BRCA-EU 9 6496625 6496625 single base substitution G T intron_variant BRCA-EU 9 6496625 6496625 single base substitution G T upstream_gene_variant BRCA-EU 9 6497857 6497857 single base substitution C G downstream_gene_variant BRCA-EU 9 6497857 6497857 single base substitution C G intron_variant BRCA-EU 9 6497857 6497857 single base substitution C G upstream_gene_variant BRCA-EU 9 6500230 6500230 single base substitution A C downstream_gene_variant BRCA-EU 9 6500230 6500230 single base substitution A C intron_variant BRCA-EU 9 6500230 6500230 single base substitution A C upstream_gene_variant BRCA-EU 9 6502207 6502207 single base substitution T C downstream_gene_variant BRCA-EU 9 6502207 6502207 single base substitution T C intron_variant BRCA-EU 9 6502207 6502207 single base substitution T C upstream_gene_variant BRCA-EU 9 6502510 6502510 single base substitution A T downstream_gene_variant BRCA-EU 9 6502510 6502510 single base substitution A T intron_variant BRCA-EU 9 6502510 6502510 single base substitution A T upstream_gene_variant BRCA-EU 9 6502643 6502643 deletion of <=200bp G - downstream_gene_variant BRCA-EU 9 6502643 6502643 deletion of <=200bp G - intron_variant BRCA-EU 9 6502643 6502643 deletion of <=200bp G - upstream_gene_variant BRCA-EU 9 6504811 6504811 single base substitution G A intron_variant BRCA-EU 9 6505283 6505284 deletion of <=200bp GT - intron_variant BRCA-EU 9 6505357 6505357 single base substitution G A intron_variant BRCA-EU 9 6505622 6505622 single base substitution C A intron_variant BRCA-EU 9 6505918 6505918 single base substitution C G intron_variant BRCA-EU 9 6506223 6506223 single base substitution A C 3_prime_UTR_variant BRCA-EU 9 6506223 6506223 single base substitution A C downstream_gene_variant BRCA-EU 9 6506223 6506223 single base substitution A C exon_variant BRCA-EU 9 6506367 6506367 single base substitution C G 3_prime_UTR_variant BRCA-EU 9 6506367 6506367 single base substitution C G downstream_gene_variant BRCA-EU 9 6506367 6506367 single base substitution C G exon_variant BRCA-EU 9 6506419 6506419 single base substitution C T 3_prime_UTR_variant BRCA-EU 9 6506419 6506419 single base substitution C T downstream_gene_variant BRCA-EU 9 6506419 6506419 single base substitution C T exon_variant BRCA-FR 9 6413592 6413592 single base substitution G T exon_variant BRCA-FR 9 6413592 6413592 single base substitution G T synonymous_variant A34A 102G>T BRCA-FR 9 6413592 6413592 single base substitution G T upstream_gene_variant BRCA-FR 9 6418315 6418315 single base substitution C G intron_variant BRCA-FR 9 6418315 6418315 single base substitution C G upstream_gene_variant BRCA-FR 9 6421111 6421111 single base substitution G A 5_prime_UTR_variant BRCA-FR 9 6421111 6421111 single base substitution G A exon_variant BRCA-FR 9 6421111 6421111 single base substitution G A missense_variant R118H 353G>A BRCA-FR 9 6425576 6425576 single base substitution G A downstream_gene_variant BRCA-FR 9 6425576 6425576 single base substitution G A intron_variant BRCA-FR 9 6435905 6435905 single base substitution G C downstream_gene_variant BRCA-FR 9 6435905 6435905 single base substitution G C intron_variant BRCA-FR 9 6446440 6446440 single base substitution G A intron_variant BRCA-FR 9 6453207 6453207 single base substitution C A intron_variant BRCA-FR 9 6459889 6459889 single base substitution C T intron_variant BRCA-FR 9 6465469 6465469 single base substitution G T downstream_gene_variant BRCA-FR 9 6465469 6465469 single base substitution G T intron_variant BRCA-FR 9 6474909 6474909 single base substitution T A intron_variant BRCA-FR 9 6485306 6485306 single base substitution C T intron_variant BRCA-FR 9 6485306 6485306 single base substitution C T upstream_gene_variant BRCA-FR 9 6488843 6488843 single base substitution C T intron_variant BRCA-FR 9 6496625 6496625 single base substitution G T downstream_gene_variant BRCA-FR 9 6496625 6496625 single base substitution G T exon_variant BRCA-FR 9 6496625 6496625 single base substitution G T intron_variant BRCA-FR 9 6496625 6496625 single base substitution G T upstream_gene_variant BRCA-FR 9 6506367 6506367 single base substitution C G 3_prime_UTR_variant BRCA-FR 9 6506367 6506367 single base substitution C G downstream_gene_variant BRCA-FR 9 6506367 6506367 single base substitution C G exon_variant BRCA-FR 9 6506419 6506419 single base substitution C T 3_prime_UTR_variant BRCA-FR 9 6506419 6506419 single base substitution C T downstream_gene_variant BRCA-FR 9 6506419 6506419 single base substitution C T exon_variant BRCA-KR 9 6492284 6492284 single base substitution C G intron_variant BRCA-KR 9 6492284 6492284 single base substitution C G upstream_gene_variant BRCA-UK 9 6470460 6470460 single base substitution G C intron_variant BRCA-US 9 6421074 6421074 single base substitution G C 5_prime_UTR_variant BRCA-US 9 6421074 6421074 single base substitution G C exon_variant BRCA-US 9 6421074 6421074 single base substitution G C missense_variant G106R 316G>C BRCA-US 9 6477776 6477776 single base substitution A C downstream_gene_variant BRCA-US 9 6477776 6477776 single base substitution A C exon_variant BRCA-US 9 6477776 6477776 single base substitution A C synonymous_variant P376P 1128A>C BRCA-US 9 6477776 6477776 single base substitution A C upstream_gene_variant BTCA-JP 9 6413455 6413455 single base substitution G A 5_prime_UTR_variant BTCA-JP 9 6413455 6413455 single base substitution G A intron_variant BTCA-JP 9 6413455 6413455 single base substitution G A upstream_gene_variant BTCA-JP 9 6420722 6420722 single base substitution G A intron_variant BTCA-JP 9 6420722 6420722 single base substitution G A upstream_gene_variant CESC-US 9 6421009 6421009 single base substitution C G exon_variant CESC-US 9 6421009 6421009 single base substitution C G missense_variant S84C 251C>G CESC-US 9 6421009 6421009 single base substitution C G upstream_gene_variant CESC-US 9 6434113 6434113 single base substitution C T downstream_gene_variant CESC-US 9 6434113 6434113 single base substitution C T exon_variant CESC-US 9 6434113 6434113 single base substitution C T intron_variant CESC-US 9 6434113 6434113 single base substitution C T missense_variant T195M 584C>T CESC-US 9 6434148 6434148 single base substitution G A downstream_gene_variant CESC-US 9 6434148 6434148 single base substitution G A exon_variant CESC-US 9 6434148 6434148 single base substitution G A intron_variant CESC-US 9 6434148 6434148 single base substitution G A missense_variant V207I 619G>A CESC-US 9 6497316 6497316 single base substitution A G 3_prime_UTR_variant CESC-US 9 6497316 6497316 single base substitution A G downstream_gene_variant CESC-US 9 6497316 6497316 single base substitution A G exon_variant CESC-US 9 6497316 6497316 single base substitution A G intron_variant CESC-US 9 6497316 6497316 single base substitution A G missense_variant K575E 1723A>G CESC-US 9 6497316 6497316 single base substitution A G upstream_gene_variant CESC-US 9 6499822 6499822 deletion of <=200bp C - downstream_gene_variant CESC-US 9 6499822 6499822 deletion of <=200bp C - exon_variant CESC-US 9 6499822 6499822 deletion of <=200bp C - intron_variant CESC-US 9 6499822 6499822 deletion of <=200bp C - upstream_gene_variant CLLE-ES 9 6413970 6413970 single base substitution G C intron_variant CLLE-ES 9 6413970 6413970 single base substitution G C upstream_gene_variant CLLE-ES 9 6428539 6428539 single base substitution T C intron_variant CLLE-ES 9 6460243 6460243 single base substitution A T intron_variant CLLE-ES 9 6461998 6461998 single base substitution A T downstream_gene_variant CLLE-ES 9 6461998 6461998 single base substitution A T intron_variant CLLE-ES 9 6472576 6472576 single base substitution G A intron_variant CLLE-ES 9 6488306 6488306 single base substitution A T intron_variant CLLE-ES 9 6507542 6507542 single base substitution C T downstream_gene_variant COAD-US 9 6413561 6413561 single base substitution C T exon_variant COAD-US 9 6413561 6413561 single base substitution C T missense_variant T24M 71C>T COAD-US 9 6413561 6413561 single base substitution C T upstream_gene_variant COAD-US 9 6460623 6460623 single base substitution G A downstream_gene_variant COAD-US 9 6460623 6460623 single base substitution G A exon_variant COAD-US 9 6460623 6460623 single base substitution G A missense_variant R232Q 695G>A COAD-US 9 6460623 6460623 single base substitution G A missense_variant R9Q 26G>A COAD-US 9 6475442 6475442 single base substitution C T exon_variant COAD-US 9 6475442 6475442 single base substitution C T synonymous_variant I305I 915C>T COAD-US 9 6475442 6475442 single base substitution C T synonymous_variant I82I 246C>T COAD-US 9 6481759 6481759 deletion of <=200bp G - downstream_gene_variant COAD-US 9 6481759 6481759 deletion of <=200bp G - exon_variant COAD-US 9 6481759 6481759 deletion of <=200bp G - frameshift_variant W426 COAD-US 9 6481759 6481759 deletion of <=200bp G - upstream_gene_variant COAD-US 9 6497290 6497290 single base substitution G A 3_prime_UTR_variant COAD-US 9 6497290 6497290 single base substitution G A downstream_gene_variant COAD-US 9 6497290 6497290 single base substitution G A exon_variant COAD-US 9 6497290 6497290 single base substitution G A intron_variant COAD-US 9 6497290 6497290 single base substitution G A missense_variant R566H 1697G>A COAD-US 9 6497290 6497290 single base substitution G A upstream_gene_variant COAD-US 9 6498129 6498129 single base substitution C T 3_prime_UTR_variant COAD-US 9 6498129 6498129 single base substitution C T downstream_gene_variant COAD-US 9 6498129 6498129 single base substitution C T exon_variant COAD-US 9 6498129 6498129 single base substitution C T missense_variant R627W 1879C>T COAD-US 9 6498129 6498129 single base substitution C T upstream_gene_variant COCA-CN 9 6420797 6420797 single base substitution A C intron_variant COCA-CN 9 6420797 6420797 single base substitution A C upstream_gene_variant COCA-CN 9 6420908 6420908 single base substitution C A splice_region_variant COCA-CN 9 6420908 6420908 single base substitution C A upstream_gene_variant COCA-CN 9 6421003 6421003 single base substitution G A exon_variant COCA-CN 9 6421003 6421003 single base substitution G A missense_variant G82D 245G>A COCA-CN 9 6421003 6421003 single base substitution G A upstream_gene_variant COCA-CN 9 6442666 6442666 single base substitution T G intron_variant COCA-CN 9 6457102 6457102 single base substitution A G intron_variant COCA-CN 9 6470921 6470921 single base substitution A G intron_variant COCA-CN 9 6482675 6482675 single base substitution C T intron_variant COCA-CN 9 6482675 6482675 single base substitution C T upstream_gene_variant COCA-CN 9 6484580 6484580 single base substitution T G intron_variant COCA-CN 9 6484580 6484580 single base substitution T G upstream_gene_variant COCA-CN 9 6486927 6486927 single base substitution T C splice_donor_variant COCA-CN 9 6492431 6492431 single base substitution G T exon_variant COCA-CN 9 6492431 6492431 single base substitution G T intron_variant COCA-CN 9 6492431 6492431 single base substitution G T upstream_gene_variant COCA-CN 9 6493452 6493452 single base substitution T C downstream_gene_variant COCA-CN 9 6493452 6493452 single base substitution T C intron_variant COCA-CN 9 6493452 6493452 single base substitution T C upstream_gene_variant COCA-CN 9 6499994 6499994 single base substitution C T downstream_gene_variant COCA-CN 9 6499994 6499994 single base substitution C T intron_variant COCA-CN 9 6499994 6499994 single base substitution C T upstream_gene_variant COCA-CN 9 6504194 6504194 single base substitution T A intron_variant COCA-CN 9 6504194 6504194 single base substitution T A upstream_gene_variant COCA-CN 9 6510713 6510713 single base substitution A G downstream_gene_variant EOPC-DE 9 6433068 6433068 single base substitution A T intron_variant EOPC-DE 9 6433068 6433068 single base substitution A T upstream_gene_variant EOPC-DE 9 6435118 6435118 single base substitution C T downstream_gene_variant EOPC-DE 9 6435118 6435118 single base substitution C T intron_variant EOPC-DE 9 6459214 6459214 single base substitution A T intron_variant ESAD-UK 9 6408309 6408309 single base substitution G T upstream_gene_variant ESAD-UK 9 6409008 6409008 single base substitution C A upstream_gene_variant ESAD-UK 9 6410369 6410369 single base substitution T C upstream_gene_variant ESAD-UK 9 6410709 6410709 single base substitution T G upstream_gene_variant ESAD-UK 9 6412433 6412433 single base substitution G A upstream_gene_variant ESAD-UK 9 6414567 6414567 single base substitution T C intron_variant ESAD-UK 9 6414941 6414941 single base substitution G A intron_variant ESAD-UK 9 6416988 6416988 single base substitution G T intron_variant ESAD-UK 9 6416988 6416988 single base substitution G T upstream_gene_variant ESAD-UK 9 6421198 6421198 single base substitution G T intron_variant ESAD-UK 9 6423082 6423082 single base substitution C G downstream_gene_variant ESAD-UK 9 6423082 6423082 single base substitution C G intron_variant ESAD-UK 9 6426898 6426898 single base substitution G A downstream_gene_variant ESAD-UK 9 6426898 6426898 single base substitution G A intron_variant ESAD-UK 9 6430563 6430563 single base substitution T C intron_variant ESAD-UK 9 6430563 6430563 single base substitution T C upstream_gene_variant ESAD-UK 9 6435739 6435739 single base substitution T G downstream_gene_variant ESAD-UK 9 6435739 6435739 single base substitution T G intron_variant ESAD-UK 9 6436075 6436075 single base substitution C T downstream_gene_variant ESAD-UK 9 6436075 6436075 single base substitution C T intron_variant ESAD-UK 9 6437415 6437415 single base substitution T A downstream_gene_variant ESAD-UK 9 6437415 6437415 single base substitution T A intron_variant ESAD-UK 9 6439795 6439795 single base substitution C T intron_variant ESAD-UK 9 6441012 6441012 single base substitution A G intron_variant ESAD-UK 9 6441334 6441334 single base substitution A G intron_variant ESAD-UK 9 6442266 6442266 single base substitution T A intron_variant ESAD-UK 9 6445577 6445577 single base substitution A T intron_variant ESAD-UK 9 6448039 6448039 single base substitution G C intron_variant ESAD-UK 9 6451200 6451200 single base substitution A G intron_variant ESAD-UK 9 6454507 6454507 single base substitution A G intron_variant ESAD-UK 9 6457043 6457043 single base substitution A G intron_variant ESAD-UK 9 6457145 6457145 single base substitution A G intron_variant ESAD-UK 9 6459076 6459076 single base substitution G T intron_variant ESAD-UK 9 6460201 6460201 single base substitution G C intron_variant ESAD-UK 9 6460216 6460216 single base substitution A T intron_variant ESAD-UK 9 6464555 6464555 single base substitution C G downstream_gene_variant ESAD-UK 9 6464555 6464555 single base substitution C G intron_variant ESAD-UK 9 6467884 6467884 single base substitution G C intron_variant ESAD-UK 9 6469737 6469738 deletion of <=200bp TA - intron_variant ESAD-UK 9 6469963 6469963 single base substitution A T intron_variant ESAD-UK 9 6471796 6471796 single base substitution C T intron_variant ESAD-UK 9 6472291 6472291 single base substitution T C intron_variant ESAD-UK 9 6474169 6474169 single base substitution G A intron_variant ESAD-UK 9 6474574 6474574 single base substitution C T intron_variant ESAD-UK 9 6476521 6476521 single base substitution G A intron_variant ESAD-UK 9 6478666 6478666 deletion of <=200bp T - downstream_gene_variant ESAD-UK 9 6478666 6478666 deletion of <=200bp T - intron_variant ESAD-UK 9 6478666 6478666 deletion of <=200bp T - upstream_gene_variant ESAD-UK 9 6483629 6483629 single base substitution A G intron_variant ESAD-UK 9 6483629 6483629 single base substitution A G upstream_gene_variant ESAD-UK 9 6487389 6487389 single base substitution G A intron_variant ESAD-UK 9 6489674 6489674 single base substitution C T intron_variant ESAD-UK 9 6493684 6493684 single base substitution A C downstream_gene_variant ESAD-UK 9 6493684 6493684 single base substitution A C intron_variant ESAD-UK 9 6493684 6493684 single base substitution A C upstream_gene_variant ESAD-UK 9 6499078 6499078 single base substitution C G downstream_gene_variant ESAD-UK 9 6499078 6499078 single base substitution C G exon_variant ESAD-UK 9 6499078 6499078 single base substitution C G intron_variant ESAD-UK 9 6499493 6499493 single base substitution G A downstream_gene_variant ESAD-UK 9 6499493 6499493 single base substitution G A exon_variant ESAD-UK 9 6499493 6499493 single base substitution G A intron_variant ESAD-UK 9 6499493 6499493 single base substitution G A upstream_gene_variant ESAD-UK 9 6499973 6499975 deletion of <=200bp TTG - downstream_gene_variant ESAD-UK 9 6499973 6499975 deletion of <=200bp TTG - intron_variant ESAD-UK 9 6499973 6499975 deletion of <=200bp TTG - upstream_gene_variant ESAD-UK 9 6500288 6500288 single base substitution G T downstream_gene_variant ESAD-UK 9 6500288 6500288 single base substitution G T intron_variant ESAD-UK 9 6500288 6500288 single base substitution G T upstream_gene_variant ESAD-UK 9 6502041 6502041 single base substitution C G downstream_gene_variant ESAD-UK 9 6502041 6502041 single base substitution C G intron_variant ESAD-UK 9 6502041 6502041 single base substitution C G upstream_gene_variant GBM-US 9 6413501 6413501 single base substitution A G exon_variant GBM-US 9 6413501 6413501 single base substitution A G missense_variant Q4R 11A>G GBM-US 9 6413501 6413501 single base substitution A G upstream_gene_variant KIRC-US 9 6420934 6420934 single base substitution T C exon_variant KIRC-US 9 6420934 6420934 single base substitution T C missense_variant F59S 176T>C KIRC-US 9 6420934 6420934 single base substitution T C upstream_gene_variant KIRC-US 9 6420988 6420988 single base substitution C G exon_variant KIRC-US 9 6420988 6420988 single base substitution C G missense_variant P77R 230C>G KIRC-US 9 6420988 6420988 single base substitution C G upstream_gene_variant LAML-KR 9 6442667 6442667 single base substitution G T intron_variant LAML-KR 9 6485829 6485829 single base substitution C A intron_variant LAML-KR 9 6485829 6485829 single base substitution C A upstream_gene_variant LGG-US 9 6497275 6497278 deletion of <=200bp CAGT - 3_prime_UTR_variant LGG-US 9 6497275 6497278 deletion of <=200bp CAGT - downstream_gene_variant LGG-US 9 6497275 6497278 deletion of <=200bp CAGT - exon_variant LGG-US 9 6497275 6497278 deletion of <=200bp CAGT - frameshift_variant PV561 LGG-US 9 6497275 6497278 deletion of <=200bp CAGT - splice_region_variant LGG-US 9 6497275 6497278 deletion of <=200bp CAGT - upstream_gene_variant LICA-CN 9 6482014 6482014 single base substitution C G downstream_gene_variant LICA-CN 9 6482014 6482014 single base substitution C G exon_variant LICA-CN 9 6482014 6482014 single base substitution C G missense_variant T436R 1307C>G LICA-CN 9 6482014 6482014 single base substitution C G upstream_gene_variant LICA-FR 9 6434150 6434150 single base substitution T C downstream_gene_variant LICA-FR 9 6434150 6434150 single base substitution T C exon_variant LICA-FR 9 6434150 6434150 single base substitution T C intron_variant LICA-FR 9 6434150 6434150 single base substitution T C synonymous_variant V207V 621T>C LICA-FR 9 6434172 6434172 single base substitution G T downstream_gene_variant LICA-FR 9 6434172 6434172 single base substitution G T exon_variant LICA-FR 9 6434172 6434172 single base substitution G T intron_variant LICA-FR 9 6434172 6434172 single base substitution G T splice_region_variant LICA-FR 9 6434172 6434172 single base substitution G T stop_gained E215* 643G>T LICA-FR 9 6450320 6450320 single base substitution A T intron_variant LICA-FR 9 6469682 6469682 insertion of <=200bp - ATATATATACACGTATATAC intron_variant LICA-FR 9 6486916 6486916 single base substitution G A exon_variant LICA-FR 9 6486916 6486916 single base substitution G A synonymous_variant A496A 1488G>A LICA-FR 9 6487171 6487171 single base substitution A T intron_variant LIHC-US 9 6493855 6493855 single base substitution A G 3_prime_UTR_variant LIHC-US 9 6493855 6493855 single base substitution A G downstream_gene_variant LIHC-US 9 6493855 6493855 single base substitution A G exon_variant LIHC-US 9 6493855 6493855 single base substitution A G synonymous_variant G509G 1527A>G LIHC-US 9 6493855 6493855 single base substitution A G upstream_gene_variant LINC-JP 9 6411087 6411087 single base substitution G T upstream_gene_variant LINC-JP 9 6414820 6414820 single base substitution C T intron_variant LINC-JP 9 6430510 6430510 single base substitution A T intron_variant LINC-JP 9 6430510 6430510 single base substitution A T upstream_gene_variant LINC-JP 9 6442515 6442515 single base substitution A G intron_variant LINC-JP 9 6442666 6442666 single base substitution T G intron_variant LINC-JP 9 6451182 6451182 deletion of <=200bp T - intron_variant LINC-JP 9 6458881 6458881 single base substitution G A intron_variant LINC-JP 9 6467341 6467341 single base substitution A G intron_variant LINC-JP 9 6493501 6493501 single base substitution T C downstream_gene_variant LINC-JP 9 6493501 6493501 single base substitution T C intron_variant LINC-JP 9 6493501 6493501 single base substitution T C upstream_gene_variant LINC-JP 9 6498422 6498422 single base substitution G A downstream_gene_variant LINC-JP 9 6498422 6498422 single base substitution G A exon_variant LINC-JP 9 6498422 6498422 single base substitution G A intron_variant LINC-JP 9 6499952 6499952 single base substitution A G downstream_gene_variant LINC-JP 9 6499952 6499952 single base substitution A G intron_variant LINC-JP 9 6499952 6499952 single base substitution A G upstream_gene_variant LINC-JP 9 6500820 6500820 single base substitution G T downstream_gene_variant LINC-JP 9 6500820 6500820 single base substitution G T intron_variant LINC-JP 9 6500820 6500820 single base substitution G T upstream_gene_variant LINC-JP 9 6504982 6504982 single base substitution G C intron_variant LINC-JP 9 6511114 6511114 single base substitution A C downstream_gene_variant LIRI-JP 9 6408439 6408439 single base substitution G A upstream_gene_variant LIRI-JP 9 6409569 6409569 single base substitution T C upstream_gene_variant LIRI-JP 9 6409768 6409768 single base substitution T C upstream_gene_variant LIRI-JP 9 6411065 6411065 single base substitution T C upstream_gene_variant LIRI-JP 9 6412439 6412439 single base substitution T C upstream_gene_variant LIRI-JP 9 6414242 6414242 single base substitution G A intron_variant LIRI-JP 9 6414672 6414672 single base substitution A C intron_variant LIRI-JP 9 6415837 6415837 single base substitution A G intron_variant LIRI-JP 9 6415880 6415880 single base substitution T G intron_variant LIRI-JP 9 6417784 6417784 single base substitution G A intron_variant LIRI-JP 9 6417784 6417784 single base substitution G A upstream_gene_variant LIRI-JP 9 6417908 6417908 single base substitution T A intron_variant LIRI-JP 9 6417908 6417908 single base substitution T A upstream_gene_variant LIRI-JP 9 6418648 6418648 single base substitution G A intron_variant LIRI-JP 9 6418648 6418648 single base substitution G A upstream_gene_variant LIRI-JP 9 6419950 6419950 single base substitution G T intron_variant LIRI-JP 9 6419950 6419950 single base substitution G T upstream_gene_variant LIRI-JP 9 6420170 6420170 single base substitution C T intron_variant LIRI-JP 9 6420170 6420170 single base substitution C T upstream_gene_variant LIRI-JP 9 6420469 6420469 single base substitution G T intron_variant LIRI-JP 9 6420469 6420469 single base substitution G T upstream_gene_variant LIRI-JP 9 6422590 6422590 single base substitution A G intron_variant LIRI-JP 9 6423151 6423151 single base substitution A C downstream_gene_variant LIRI-JP 9 6423151 6423151 single base substitution A C intron_variant LIRI-JP 9 6423788 6423788 single base substitution A T downstream_gene_variant LIRI-JP 9 6423788 6423788 single base substitution A T intron_variant LIRI-JP 9 6423991 6423991 single base substitution G A downstream_gene_variant LIRI-JP 9 6423991 6423991 single base substitution G A intron_variant LIRI-JP 9 6426125 6426125 single base substitution A G downstream_gene_variant LIRI-JP 9 6426125 6426125 single base substitution A G intron_variant LIRI-JP 9 6428128 6428128 single base substitution T C intron_variant LIRI-JP 9 6428209 6428209 single base substitution C T intron_variant LIRI-JP 9 6429338 6429338 single base substitution G A intron_variant LIRI-JP 9 6429338 6429338 single base substitution G A upstream_gene_variant LIRI-JP 9 6431426 6431426 single base substitution A T intron_variant LIRI-JP 9 6431426 6431426 single base substitution A T upstream_gene_variant LIRI-JP 9 6431445 6431445 single base substitution A C intron_variant LIRI-JP 9 6431445 6431445 single base substitution A C upstream_gene_variant LIRI-JP 9 6431491 6431491 single base substitution C G intron_variant LIRI-JP 9 6431491 6431491 single base substitution C G upstream_gene_variant LIRI-JP 9 6436882 6436882 single base substitution A C downstream_gene_variant LIRI-JP 9 6436882 6436882 single base substitution A C intron_variant LIRI-JP 9 6437371 6437371 single base substitution G A downstream_gene_variant LIRI-JP 9 6437371 6437371 single base substitution G A intron_variant LIRI-JP 9 6438436 6438436 single base substitution A T downstream_gene_variant LIRI-JP 9 6438436 6438436 single base substitution A T intron_variant LIRI-JP 9 6441985 6441985 single base substitution A G intron_variant LIRI-JP 9 6442298 6442298 single base substitution G A intron_variant LIRI-JP 9 6442789 6442789 single base substitution C T intron_variant LIRI-JP 9 6444160 6444160 single base substitution T C intron_variant LIRI-JP 9 6445905 6445905 single base substitution A G intron_variant LIRI-JP 9 6446486 6446486 single base substitution G A intron_variant LIRI-JP 9 6447180 6447180 single base substitution C T intron_variant LIRI-JP 9 6448131 6448131 single base substitution G A intron_variant LIRI-JP 9 6448497 6448497 single base substitution T G intron_variant LIRI-JP 9 6448963 6448963 single base substitution A G intron_variant LIRI-JP 9 6451800 6451800 single base substitution T G intron_variant LIRI-JP 9 6454824 6454824 single base substitution A G intron_variant LIRI-JP 9 6456331 6456331 single base substitution C T intron_variant LIRI-JP 9 6458197 6458197 single base substitution A G intron_variant LIRI-JP 9 6458354 6458354 single base substitution T C intron_variant LIRI-JP 9 6458688 6458688 single base substitution A G intron_variant LIRI-JP 9 6459267 6459267 single base substitution A G intron_variant LIRI-JP 9 6459276 6459276 single base substitution G T intron_variant LIRI-JP 9 6459826 6459826 single base substitution A G intron_variant LIRI-JP 9 6461089 6461089 single base substitution A G downstream_gene_variant LIRI-JP 9 6461089 6461089 single base substitution A G intron_variant LIRI-JP 9 6461697 6461697 single base substitution A G downstream_gene_variant LIRI-JP 9 6461697 6461697 single base substitution A G intron_variant LIRI-JP 9 6462018 6462018 single base substitution A G downstream_gene_variant LIRI-JP 9 6462018 6462018 single base substitution A G intron_variant LIRI-JP 9 6462570 6462570 single base substitution T C downstream_gene_variant LIRI-JP 9 6462570 6462570 single base substitution T C intron_variant LIRI-JP 9 6464630 6464630 single base substitution A G downstream_gene_variant LIRI-JP 9 6464630 6464630 single base substitution A G intron_variant LIRI-JP 9 6467920 6467920 single base substitution A G intron_variant LIRI-JP 9 6468980 6468980 single base substitution A T intron_variant LIRI-JP 9 6469108 6469108 single base substitution T C intron_variant LIRI-JP 9 6474980 6474980 single base substitution A G intron_variant LIRI-JP 9 6476889 6476889 single base substitution G A intron_variant LIRI-JP 9 6481121 6481121 single base substitution A G downstream_gene_variant LIRI-JP 9 6481121 6481121 single base substitution A G intron_variant LIRI-JP 9 6481121 6481121 single base substitution A G upstream_gene_variant LIRI-JP 9 6483045 6483045 single base substitution G A intron_variant LIRI-JP 9 6483045 6483045 single base substitution G A upstream_gene_variant LIRI-JP 9 6487145 6487145 single base substitution G T intron_variant LIRI-JP 9 6493331 6493331 single base substitution A T downstream_gene_variant LIRI-JP 9 6493331 6493331 single base substitution A T intron_variant LIRI-JP 9 6493331 6493331 single base substitution A T upstream_gene_variant LIRI-JP 9 6493661 6493661 single base substitution A G downstream_gene_variant LIRI-JP 9 6493661 6493661 single base substitution A G intron_variant LIRI-JP 9 6493661 6493661 single base substitution A G upstream_gene_variant LIRI-JP 9 6494285 6494285 single base substitution A G downstream_gene_variant LIRI-JP 9 6494285 6494285 single base substitution A G exon_variant LIRI-JP 9 6494285 6494285 single base substitution A G intron_variant LIRI-JP 9 6494285 6494285 single base substitution A G upstream_gene_variant LIRI-JP 9 6494841 6494841 single base substitution C T downstream_gene_variant LIRI-JP 9 6494841 6494841 single base substitution C T exon_variant LIRI-JP 9 6494841 6494841 single base substitution C T intron_variant LIRI-JP 9 6494841 6494841 single base substitution C T upstream_gene_variant LIRI-JP 9 6496236 6496236 single base substitution T C downstream_gene_variant LIRI-JP 9 6496236 6496236 single base substitution T C exon_variant LIRI-JP 9 6496236 6496236 single base substitution T C intron_variant LIRI-JP 9 6496236 6496236 single base substitution T C upstream_gene_variant LIRI-JP 9 6497289 6497289 single base substitution C T 3_prime_UTR_variant LIRI-JP 9 6497289 6497289 single base substitution C T downstream_gene_variant LIRI-JP 9 6497289 6497289 single base substitution C T exon_variant LIRI-JP 9 6497289 6497289 single base substitution C T intron_variant LIRI-JP 9 6497289 6497289 single base substitution C T missense_variant R566C 1696C>T LIRI-JP 9 6497289 6497289 single base substitution C T upstream_gene_variant LIRI-JP 9 6497711 6497711 single base substitution A G downstream_gene_variant LIRI-JP 9 6497711 6497711 single base substitution A G intron_variant LIRI-JP 9 6497711 6497711 single base substitution A G upstream_gene_variant LIRI-JP 9 6499075 6499075 single base substitution T C downstream_gene_variant LIRI-JP 9 6499075 6499075 single base substitution T C exon_variant LIRI-JP 9 6499075 6499075 single base substitution T C intron_variant LIRI-JP 9 6499314 6499314 single base substitution A G downstream_gene_variant LIRI-JP 9 6499314 6499314 single base substitution A G exon_variant LIRI-JP 9 6499314 6499314 single base substitution A G intron_variant LIRI-JP 9 6499660 6499660 single base substitution A T downstream_gene_variant LIRI-JP 9 6499660 6499660 single base substitution A T exon_variant LIRI-JP 9 6499660 6499660 single base substitution A T intron_variant LIRI-JP 9 6499660 6499660 single base substitution A T upstream_gene_variant LIRI-JP 9 6500932 6500932 deletion of <=200bp A - downstream_gene_variant LIRI-JP 9 6500932 6500932 deletion of <=200bp A - intron_variant LIRI-JP 9 6500932 6500932 deletion of <=200bp A - upstream_gene_variant LIRI-JP 9 6501126 6501126 single base substitution A G downstream_gene_variant LIRI-JP 9 6501126 6501126 single base substitution A G intron_variant LIRI-JP 9 6501126 6501126 single base substitution A G upstream_gene_variant LIRI-JP 9 6504651 6504651 single base substitution A C 3_prime_UTR_variant LIRI-JP 9 6504651 6504651 single base substitution A C exon_variant LIRI-JP 9 6504651 6504651 single base substitution A C missense_variant Y741S 2222A>C LIRI-JP 9 6506102 6506102 single base substitution A G 3_prime_UTR_variant LIRI-JP 9 6506102 6506102 single base substitution A G exon_variant LIRI-JP 9 6506102 6506102 single base substitution A G missense_variant N778D 2332A>G LIRI-JP 9 6509283 6509283 single base substitution A G downstream_gene_variant LIRI-JP 9 6509930 6509930 single base substitution G A downstream_gene_variant LIRI-JP 9 6511681 6511681 single base substitution T C downstream_gene_variant LUSC-KR 9 6409198 6409198 single base substitution C G upstream_gene_variant LUSC-KR 9 6409407 6409407 single base substitution A C upstream_gene_variant LUSC-KR 9 6411315 6411315 single base substitution G T upstream_gene_variant LUSC-KR 9 6412927 6412927 single base substitution G T upstream_gene_variant LUSC-KR 9 6420534 6420534 single base substitution C G intron_variant LUSC-KR 9 6420534 6420534 single base substitution C G upstream_gene_variant LUSC-KR 9 6422494 6422494 single base substitution A G intron_variant LUSC-KR 9 6431241 6431241 single base substitution A T intron_variant LUSC-KR 9 6431241 6431241 single base substitution A T upstream_gene_variant LUSC-KR 9 6433702 6433702 single base substitution G A intron_variant LUSC-KR 9 6433702 6433702 single base substitution G A upstream_gene_variant LUSC-KR 9 6438557 6438557 single base substitution C T downstream_gene_variant LUSC-KR 9 6438557 6438557 single base substitution C T intron_variant LUSC-KR 9 6442059 6442059 single base substitution G A intron_variant LUSC-KR 9 6445998 6445998 single base substitution T C intron_variant LUSC-KR 9 6450270 6450270 single base substitution G T intron_variant LUSC-KR 9 6452463 6452463 single base substitution C T intron_variant LUSC-KR 9 6454456 6454456 single base substitution T C intron_variant LUSC-KR 9 6457184 6457184 single base substitution G C intron_variant LUSC-KR 9 6462344 6462344 single base substitution T A downstream_gene_variant LUSC-KR 9 6462344 6462344 single base substitution T A intron_variant LUSC-KR 9 6469760 6469760 single base substitution A T intron_variant LUSC-KR 9 6473656 6473656 single base substitution A T intron_variant LUSC-KR 9 6493570 6493570 single base substitution A G downstream_gene_variant LUSC-KR 9 6493570 6493570 single base substitution A G intron_variant LUSC-KR 9 6493570 6493570 single base substitution A G upstream_gene_variant LUSC-KR 9 6494218 6494218 single base substitution G A downstream_gene_variant LUSC-KR 9 6494218 6494218 single base substitution G A exon_variant LUSC-KR 9 6494218 6494218 single base substitution G A intron_variant LUSC-KR 9 6494218 6494218 single base substitution G A upstream_gene_variant LUSC-KR 9 6499503 6499503 single base substitution C T downstream_gene_variant LUSC-KR 9 6499503 6499503 single base substitution C T exon_variant LUSC-KR 9 6499503 6499503 single base substitution C T intron_variant LUSC-KR 9 6499503 6499503 single base substitution C T upstream_gene_variant LUSC-KR 9 6504044 6504044 single base substitution A T intron_variant LUSC-KR 9 6504044 6504044 single base substitution A T upstream_gene_variant LUSC-KR 9 6510535 6510535 single base substitution A G downstream_gene_variant LUSC-US 9 6460735 6460735 single base substitution C A downstream_gene_variant LUSC-US 9 6460735 6460735 single base substitution C A exon_variant LUSC-US 9 6460735 6460735 single base substitution C A synonymous_variant T269T 807C>A LUSC-US 9 6460735 6460735 single base substitution C A synonymous_variant T46T 138C>A MALY-DE 9 6411381 6411381 single base substitution T C upstream_gene_variant MALY-DE 9 6411393 6411393 single base substitution T G upstream_gene_variant MALY-DE 9 6411914 6411914 single base substitution A C upstream_gene_variant MALY-DE 9 6412733 6412733 single base substitution C G upstream_gene_variant MALY-DE 9 6413534 6413534 single base substitution C T exon_variant MALY-DE 9 6413534 6413534 single base substitution C T missense_variant T15I 44C>T MALY-DE 9 6413534 6413534 single base substitution C T upstream_gene_variant MALY-DE 9 6413571 6413571 single base substitution G A exon_variant MALY-DE 9 6413571 6413571 single base substitution G A synonymous_variant E27E 81G>A MALY-DE 9 6413571 6413571 single base substitution G A upstream_gene_variant MALY-DE 9 6413571 6413571 single base substitution G C exon_variant MALY-DE 9 6413571 6413571 single base substitution G C missense_variant E27D 81G>C MALY-DE 9 6413571 6413571 single base substitution G C upstream_gene_variant MALY-DE 9 6413590 6413590 single base substitution G A exon_variant MALY-DE 9 6413590 6413590 single base substitution G A missense_variant A34T 100G>A MALY-DE 9 6413590 6413590 single base substitution G A upstream_gene_variant MALY-DE 9 6413595 6413595 single base substitution G A exon_variant MALY-DE 9 6413595 6413595 single base substitution G A synonymous_variant L35L 105G>A MALY-DE 9 6413595 6413595 single base substitution G A upstream_gene_variant MALY-DE 9 6413744 6413744 single base substitution G A intron_variant MALY-DE 9 6413744 6413744 single base substitution G A upstream_gene_variant MALY-DE 9 6413747 6413747 single base substitution C G intron_variant MALY-DE 9 6413747 6413747 single base substitution C G upstream_gene_variant MALY-DE 9 6413749 6413770 deletion of <=200bp CCTGGCTCCGCTGCGGGTGGGC - intron_variant MALY-DE 9 6413749 6413770 deletion of <=200bp CCTGGCTCCGCTGCGGGTGGGC - upstream_gene_variant MALY-DE 9 6413820 6413820 single base substitution G A exon_variant MALY-DE 9 6413820 6413820 single base substitution G A intron_variant MALY-DE 9 6413820 6413820 single base substitution G A upstream_gene_variant MALY-DE 9 6413833 6413833 single base substitution C G exon_variant MALY-DE 9 6413833 6413833 single base substitution C G intron_variant MALY-DE 9 6413833 6413833 single base substitution C G upstream_gene_variant MALY-DE 9 6413912 6413912 single base substitution G C intron_variant MALY-DE 9 6413912 6413912 single base substitution G C splice_donor_variant MALY-DE 9 6413912 6413912 single base substitution G C upstream_gene_variant MALY-DE 9 6413915 6413915 single base substitution G A intron_variant MALY-DE 9 6413915 6413915 single base substitution G A upstream_gene_variant MALY-DE 9 6413944 6413944 single base substitution G A intron_variant MALY-DE 9 6413944 6413944 single base substitution G A upstream_gene_variant MALY-DE 9 6414020 6414020 single base substitution C T intron_variant MALY-DE 9 6414020 6414020 single base substitution C T upstream_gene_variant MALY-DE 9 6414043 6414043 single base substitution G A intron_variant MALY-DE 9 6414043 6414043 single base substitution G A upstream_gene_variant MALY-DE 9 6414107 6414107 single base substitution C T exon_variant MALY-DE 9 6414107 6414107 single base substitution C T intron_variant MALY-DE 9 6414129 6414129 single base substitution C G exon_variant MALY-DE 9 6414129 6414129 single base substitution C G intron_variant MALY-DE 9 6414155 6414155 single base substitution G A exon_variant MALY-DE 9 6414155 6414155 single base substitution G A intron_variant MALY-DE 9 6414295 6414295 single base substitution T G intron_variant MALY-DE 9 6414344 6414344 single base substitution A T intron_variant MALY-DE 9 6414706 6414706 single base substitution C T intron_variant MALY-DE 9 6415263 6415263 single base substitution A G intron_variant MALY-DE 9 6417574 6417574 single base substitution G A intron_variant MALY-DE 9 6417574 6417574 single base substitution G A upstream_gene_variant MALY-DE 9 6423645 6423645 single base substitution T G downstream_gene_variant MALY-DE 9 6423645 6423645 single base substitution T G intron_variant MALY-DE 9 6423953 6423953 single base substitution T A downstream_gene_variant MALY-DE 9 6423953 6423953 single base substitution T A intron_variant MALY-DE 9 6431962 6431962 single base substitution T C intron_variant MALY-DE 9 6431962 6431962 single base substitution T C upstream_gene_variant MALY-DE 9 6432286 6432286 single base substitution A G intron_variant MALY-DE 9 6432286 6432286 single base substitution A G upstream_gene_variant MALY-DE 9 6432332 6432332 single base substitution T C intron_variant MALY-DE 9 6432332 6432332 single base substitution T C upstream_gene_variant MALY-DE 9 6432354 6432354 single base substitution T C intron_variant MALY-DE 9 6432354 6432354 single base substitution T C upstream_gene_variant MALY-DE 9 6437601 6437601 single base substitution A G downstream_gene_variant MALY-DE 9 6437601 6437601 single base substitution A G intron_variant MALY-DE 9 6441216 6441216 insertion of <=200bp - A intron_variant MALY-DE 9 6467282 6467282 single base substitution T A intron_variant MALY-DE 9 6473766 6473766 single base substitution A G intron_variant MALY-DE 9 6481087 6481087 single base substitution G A downstream_gene_variant MALY-DE 9 6481087 6481087 single base substitution G A intron_variant MALY-DE 9 6481087 6481087 single base substitution G A upstream_gene_variant MALY-DE 9 6493707 6493707 single base substitution T A downstream_gene_variant MALY-DE 9 6493707 6493707 single base substitution T A intron_variant MALY-DE 9 6493707 6493707 single base substitution T A upstream_gene_variant MALY-DE 9 6494145 6494145 single base substitution G C downstream_gene_variant MALY-DE 9 6494145 6494145 single base substitution G C exon_variant MALY-DE 9 6494145 6494145 single base substitution G C intron_variant MALY-DE 9 6494145 6494145 single base substitution G C upstream_gene_variant MALY-DE 9 6494237 6494237 single base substitution T A downstream_gene_variant MALY-DE 9 6494237 6494237 single base substitution T A exon_variant MALY-DE 9 6494237 6494237 single base substitution T A intron_variant MALY-DE 9 6494237 6494237 single base substitution T A upstream_gene_variant MALY-DE 9 6494497 6494497 single base substitution G A downstream_gene_variant MALY-DE 9 6494497 6494497 single base substitution G A exon_variant MALY-DE 9 6494497 6494497 single base substitution G A intron_variant MALY-DE 9 6494497 6494497 single base substitution G A upstream_gene_variant MALY-DE 9 6499337 6499337 single base substitution G C downstream_gene_variant MALY-DE 9 6499337 6499337 single base substitution G C exon_variant MALY-DE 9 6499337 6499337 single base substitution G C intron_variant MALY-DE 9 6499678 6499678 single base substitution T G downstream_gene_variant MALY-DE 9 6499678 6499678 single base substitution T G exon_variant MALY-DE 9 6499678 6499678 single base substitution T G intron_variant MALY-DE 9 6499678 6499678 single base substitution T G upstream_gene_variant MELA-AU 9 6408620 6408620 single base substitution C T upstream_gene_variant MELA-AU 9 6408973 6408973 single base substitution C T upstream_gene_variant MELA-AU 9 6409172 6409172 single base substitution G A upstream_gene_variant MELA-AU 9 6409373 6409373 single base substitution G C upstream_gene_variant MELA-AU 9 6409472 6409472 single base substitution G A upstream_gene_variant MELA-AU 9 6410086 6410086 single base substitution C T upstream_gene_variant MELA-AU 9 6410307 6410307 single base substitution C T upstream_gene_variant MELA-AU 9 6410367 6410367 single base substitution C T upstream_gene_variant MELA-AU 9 6410703 6410703 single base substitution C T upstream_gene_variant MELA-AU 9 6411371 6411371 single base substitution C T upstream_gene_variant MELA-AU 9 6412838 6412838 single base substitution C T upstream_gene_variant MELA-AU 9 6415701 6415701 single base substitution C T intron_variant MELA-AU 9 6416162 6416162 single base substitution C T intron_variant MELA-AU 9 6416162 6416162 single base substitution C T upstream_gene_variant MELA-AU 9 6416573 6416573 single base substitution C T intron_variant MELA-AU 9 6416573 6416573 single base substitution C T upstream_gene_variant MELA-AU 9 6416854 6416854 single base substitution C T intron_variant MELA-AU 9 6416854 6416854 single base substitution C T upstream_gene_variant MELA-AU 9 6417149 6417149 single base substitution C T intron_variant MELA-AU 9 6417149 6417149 single base substitution C T upstream_gene_variant MELA-AU 9 6417794 6417794 single base substitution C T intron_variant MELA-AU 9 6417794 6417794 single base substitution C T upstream_gene_variant MELA-AU 9 6418404 6418404 single base substitution C T intron_variant MELA-AU 9 6418404 6418404 single base substitution C T upstream_gene_variant MELA-AU 9 6418784 6418784 single base substitution C T intron_variant MELA-AU 9 6418784 6418784 single base substitution C T upstream_gene_variant MELA-AU 9 6419342 6419342 single base substitution T C intron_variant MELA-AU 9 6419342 6419342 single base substitution T C upstream_gene_variant MELA-AU 9 6419911 6419911 single base substitution T G intron_variant MELA-AU 9 6419911 6419911 single base substitution T G upstream_gene_variant MELA-AU 9 6422124 6422124 single base substitution C T intron_variant MELA-AU 9 6424691 6424691 single base substitution C T downstream_gene_variant MELA-AU 9 6424691 6424691 single base substitution C T intron_variant MELA-AU 9 6425583 6425583 single base substitution C T downstream_gene_variant MELA-AU 9 6425583 6425583 single base substitution C T intron_variant MELA-AU 9 6426966 6426966 single base substitution C T downstream_gene_variant MELA-AU 9 6426966 6426966 single base substitution C T intron_variant MELA-AU 9 6427090 6427090 single base substitution C T downstream_gene_variant MELA-AU 9 6427090 6427090 single base substitution C T intron_variant MELA-AU 9 6428011 6428011 single base substitution C T intron_variant MELA-AU 9 6428433 6428433 single base substitution C T intron_variant MELA-AU 9 6430267 6430267 single base substitution C T intron_variant MELA-AU 9 6430267 6430267 single base substitution C T upstream_gene_variant MELA-AU 9 6430581 6430581 single base substitution C T intron_variant MELA-AU 9 6430581 6430581 single base substitution C T upstream_gene_variant MELA-AU 9 6430694 6430694 single base substitution C T intron_variant MELA-AU 9 6430694 6430694 single base substitution C T upstream_gene_variant MELA-AU 9 6431169 6431169 single base substitution A T intron_variant MELA-AU 9 6431169 6431169 single base substitution A T upstream_gene_variant MELA-AU 9 6431381 6431381 single base substitution G A intron_variant MELA-AU 9 6431381 6431381 single base substitution G A upstream_gene_variant MELA-AU 9 6431672 6431672 single base substitution G A intron_variant MELA-AU 9 6431672 6431672 single base substitution G A upstream_gene_variant MELA-AU 9 6432422 6432422 single base substitution C T intron_variant MELA-AU 9 6432422 6432422 single base substitution C T upstream_gene_variant MELA-AU 9 6432766 6432766 single base substitution T G intron_variant MELA-AU 9 6432766 6432766 single base substitution T G upstream_gene_variant MELA-AU 9 6433053 6433053 single base substitution C T intron_variant MELA-AU 9 6433053 6433053 single base substitution C T upstream_gene_variant MELA-AU 9 6433189 6433189 single base substitution C T intron_variant MELA-AU 9 6433189 6433189 single base substitution C T upstream_gene_variant MELA-AU 9 6434265 6434265 single base substitution G A downstream_gene_variant MELA-AU 9 6434265 6434265 single base substitution G A exon_variant MELA-AU 9 6434265 6434265 single base substitution G A intron_variant MELA-AU 9 6435496 6435496 single base substitution C T downstream_gene_variant MELA-AU 9 6435496 6435496 single base substitution C T intron_variant MELA-AU 9 6435578 6435578 single base substitution C T downstream_gene_variant MELA-AU 9 6435578 6435578 single base substitution C T intron_variant MELA-AU 9 6435910 6435910 single base substitution A C downstream_gene_variant MELA-AU 9 6435910 6435910 single base substitution A C intron_variant MELA-AU 9 6437342 6437342 single base substitution C T downstream_gene_variant MELA-AU 9 6437342 6437342 single base substitution C T intron_variant MELA-AU 9 6437954 6437954 single base substitution C A downstream_gene_variant MELA-AU 9 6437954 6437954 single base substitution C A intron_variant MELA-AU 9 6439023 6439023 single base substitution C T downstream_gene_variant MELA-AU 9 6439023 6439023 single base substitution C T intron_variant MELA-AU 9 6439956 6439957 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 6441371 6441371 single base substitution C T intron_variant MELA-AU 9 6441555 6441555 single base substitution C T intron_variant MELA-AU 9 6442970 6442970 single base substitution C T intron_variant MELA-AU 9 6444060 6444060 single base substitution T A intron_variant MELA-AU 9 6444834 6444834 single base substitution T C intron_variant MELA-AU 9 6445412 6445412 single base substitution C T intron_variant MELA-AU 9 6446454 6446454 single base substitution A T intron_variant MELA-AU 9 6446813 6446813 single base substitution C A intron_variant MELA-AU 9 6449044 6449044 single base substitution C T intron_variant MELA-AU 9 6450229 6450229 single base substitution T C intron_variant MELA-AU 9 6450300 6450300 single base substitution C T intron_variant MELA-AU 9 6450385 6450385 single base substitution C T intron_variant MELA-AU 9 6452106 6452106 single base substitution C T intron_variant MELA-AU 9 6452948 6452948 single base substitution C T intron_variant MELA-AU 9 6453144 6453144 single base substitution G A intron_variant MELA-AU 9 6453978 6453978 single base substitution C T intron_variant MELA-AU 9 6454129 6454129 single base substitution G A intron_variant MELA-AU 9 6454311 6454311 single base substitution C T intron_variant MELA-AU 9 6454827 6454827 single base substitution C T intron_variant MELA-AU 9 6455006 6455006 single base substitution T A intron_variant MELA-AU 9 6456891 6456891 single base substitution C T intron_variant MELA-AU 9 6458172 6458172 single base substitution C T intron_variant MELA-AU 9 6458909 6458909 single base substitution C T intron_variant MELA-AU 9 6459056 6459056 single base substitution G T intron_variant MELA-AU 9 6459244 6459245 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 6462182 6462182 single base substitution C T downstream_gene_variant MELA-AU 9 6462182 6462182 single base substitution C T intron_variant MELA-AU 9 6462634 6462634 single base substitution C T downstream_gene_variant MELA-AU 9 6462634 6462634 single base substitution C T intron_variant MELA-AU 9 6463511 6463511 single base substitution C T downstream_gene_variant MELA-AU 9 6463511 6463511 single base substitution C T intron_variant MELA-AU 9 6465164 6465164 single base substitution T C downstream_gene_variant MELA-AU 9 6465164 6465164 single base substitution T C intron_variant MELA-AU 9 6465489 6465489 single base substitution G A downstream_gene_variant MELA-AU 9 6465489 6465489 single base substitution G A intron_variant MELA-AU 9 6466166 6466166 single base substitution C T intron_variant MELA-AU 9 6466895 6466895 single base substitution C T intron_variant MELA-AU 9 6468144 6468144 single base substitution G C intron_variant MELA-AU 9 6468642 6468642 single base substitution C T intron_variant MELA-AU 9 6468780 6468780 single base substitution G A intron_variant MELA-AU 9 6470136 6470136 single base substitution G A intron_variant MELA-AU 9 6470379 6470379 single base substitution C T intron_variant MELA-AU 9 6472159 6472159 single base substitution C T intron_variant MELA-AU 9 6473879 6473879 single base substitution A C intron_variant MELA-AU 9 6475621 6475621 single base substitution C T intron_variant MELA-AU 9 6475726 6475726 single base substitution T A intron_variant MELA-AU 9 6475805 6475805 single base substitution A G intron_variant MELA-AU 9 6476719 6476719 single base substitution C T intron_variant MELA-AU 9 6477527 6477527 single base substitution A C intron_variant MELA-AU 9 6477527 6477527 single base substitution A C upstream_gene_variant MELA-AU 9 6477994 6477994 single base substitution C T downstream_gene_variant MELA-AU 9 6477994 6477994 single base substitution C T intron_variant MELA-AU 9 6477994 6477994 single base substitution C T upstream_gene_variant MELA-AU 9 6478840 6478840 single base substitution C T downstream_gene_variant MELA-AU 9 6478840 6478840 single base substitution C T intron_variant MELA-AU 9 6478840 6478840 single base substitution C T upstream_gene_variant MELA-AU 9 6479415 6479415 single base substitution C T downstream_gene_variant MELA-AU 9 6479415 6479415 single base substitution C T intron_variant MELA-AU 9 6479415 6479415 single base substitution C T upstream_gene_variant MELA-AU 9 6480550 6480550 single base substitution C T downstream_gene_variant MELA-AU 9 6480550 6480550 single base substitution C T intron_variant MELA-AU 9 6480550 6480550 single base substitution C T upstream_gene_variant MELA-AU 9 6480887 6480887 single base substitution C T downstream_gene_variant MELA-AU 9 6480887 6480887 single base substitution C T intron_variant MELA-AU 9 6480887 6480887 single base substitution C T upstream_gene_variant MELA-AU 9 6481167 6481167 single base substitution G A downstream_gene_variant MELA-AU 9 6481167 6481167 single base substitution G A intron_variant MELA-AU 9 6481167 6481167 single base substitution G A upstream_gene_variant MELA-AU 9 6481201 6481201 single base substitution C T downstream_gene_variant MELA-AU 9 6481201 6481201 single base substitution C T intron_variant MELA-AU 9 6481201 6481201 single base substitution C T upstream_gene_variant MELA-AU 9 6482439 6482439 single base substitution T G downstream_gene_variant MELA-AU 9 6482439 6482439 single base substitution T G intron_variant MELA-AU 9 6482439 6482439 single base substitution T G upstream_gene_variant MELA-AU 9 6482597 6482597 single base substitution C T downstream_gene_variant MELA-AU 9 6482597 6482597 single base substitution C T intron_variant MELA-AU 9 6482597 6482597 single base substitution C T upstream_gene_variant MELA-AU 9 6483090 6483090 single base substitution C T intron_variant MELA-AU 9 6483090 6483090 single base substitution C T upstream_gene_variant MELA-AU 9 6484879 6484879 single base substitution C T intron_variant MELA-AU 9 6484879 6484879 single base substitution C T upstream_gene_variant MELA-AU 9 6485329 6485329 single base substitution C T intron_variant MELA-AU 9 6485329 6485329 single base substitution C T upstream_gene_variant MELA-AU 9 6485655 6485655 single base substitution C T intron_variant MELA-AU 9 6485655 6485655 single base substitution C T upstream_gene_variant MELA-AU 9 6487398 6487398 single base substitution C T intron_variant MELA-AU 9 6487826 6487826 single base substitution C T intron_variant MELA-AU 9 6488322 6488322 single base substitution C T intron_variant MELA-AU 9 6489431 6489431 single base substitution G A intron_variant MELA-AU 9 6490359 6490359 single base substitution G T intron_variant MELA-AU 9 6491179 6491179 single base substitution G A intron_variant MELA-AU 9 6492010 6492011 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 6493343 6493343 single base substitution A G downstream_gene_variant MELA-AU 9 6493343 6493343 single base substitution A G intron_variant MELA-AU 9 6493343 6493343 single base substitution A G upstream_gene_variant MELA-AU 9 6493357 6493357 single base substitution G A downstream_gene_variant MELA-AU 9 6493357 6493357 single base substitution G A intron_variant MELA-AU 9 6493357 6493357 single base substitution G A upstream_gene_variant MELA-AU 9 6494471 6494471 single base substitution C T downstream_gene_variant MELA-AU 9 6494471 6494471 single base substitution C T exon_variant MELA-AU 9 6494471 6494471 single base substitution C T intron_variant MELA-AU 9 6494471 6494471 single base substitution C T upstream_gene_variant MELA-AU 9 6494792 6494792 single base substitution C T downstream_gene_variant MELA-AU 9 6494792 6494792 single base substitution C T exon_variant MELA-AU 9 6494792 6494792 single base substitution C T intron_variant MELA-AU 9 6494792 6494792 single base substitution C T upstream_gene_variant MELA-AU 9 6495287 6495288 multiple base substitution (>=2bp and <=200bp) AG GA downstream_gene_variant MELA-AU 9 6495287 6495288 multiple base substitution (>=2bp and <=200bp) AG GA exon_variant MELA-AU 9 6495287 6495288 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 9 6495287 6495288 multiple base substitution (>=2bp and <=200bp) AG GA upstream_gene_variant MELA-AU 9 6496195 6496197 deletion of <=200bp GAA - downstream_gene_variant MELA-AU 9 6496195 6496197 deletion of <=200bp GAA - exon_variant MELA-AU 9 6496195 6496197 deletion of <=200bp GAA - intron_variant MELA-AU 9 6496195 6496197 deletion of <=200bp GAA - upstream_gene_variant MELA-AU 9 6496856 6496857 multiple base substitution (>=2bp and <=200bp) TT GG downstream_gene_variant MELA-AU 9 6496856 6496857 multiple base substitution (>=2bp and <=200bp) TT GG exon_variant MELA-AU 9 6496856 6496857 multiple base substitution (>=2bp and <=200bp) TT GG intron_variant MELA-AU 9 6496856 6496857 multiple base substitution (>=2bp and <=200bp) TT GG upstream_gene_variant MELA-AU 9 6497088 6497088 single base substitution G A downstream_gene_variant MELA-AU 9 6497088 6497088 single base substitution G A exon_variant MELA-AU 9 6497088 6497088 single base substitution G A intron_variant MELA-AU 9 6497088 6497088 single base substitution G A upstream_gene_variant MELA-AU 9 6497605 6497605 single base substitution T C downstream_gene_variant MELA-AU 9 6497605 6497605 single base substitution T C intron_variant MELA-AU 9 6497605 6497605 single base substitution T C upstream_gene_variant MELA-AU 9 6498050 6498050 single base substitution C T 3_prime_UTR_variant MELA-AU 9 6498050 6498050 single base substitution C T downstream_gene_variant MELA-AU 9 6498050 6498050 single base substitution C T exon_variant MELA-AU 9 6498050 6498050 single base substitution C T synonymous_variant S600S 1800C>T MELA-AU 9 6498050 6498050 single base substitution C T upstream_gene_variant MELA-AU 9 6499781 6499781 single base substitution C T downstream_gene_variant MELA-AU 9 6499781 6499781 single base substitution C T exon_variant MELA-AU 9 6499781 6499781 single base substitution C T intron_variant MELA-AU 9 6499781 6499781 single base substitution C T upstream_gene_variant MELA-AU 9 6500166 6500166 single base substitution C T downstream_gene_variant MELA-AU 9 6500166 6500166 single base substitution C T intron_variant MELA-AU 9 6500166 6500166 single base substitution C T upstream_gene_variant MELA-AU 9 6500263 6500263 single base substitution C A downstream_gene_variant MELA-AU 9 6500263 6500263 single base substitution C A intron_variant MELA-AU 9 6500263 6500263 single base substitution C A upstream_gene_variant MELA-AU 9 6501103 6501103 single base substitution T C downstream_gene_variant MELA-AU 9 6501103 6501103 single base substitution T C intron_variant MELA-AU 9 6501103 6501103 single base substitution T C upstream_gene_variant MELA-AU 9 6502533 6502534 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 9 6502533 6502534 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 6502533 6502534 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 9 6502988 6502988 single base substitution T G downstream_gene_variant MELA-AU 9 6502988 6502988 single base substitution T G intron_variant MELA-AU 9 6502988 6502988 single base substitution T G upstream_gene_variant MELA-AU 9 6506062 6506062 single base substitution G A 3_prime_UTR_variant MELA-AU 9 6506062 6506062 single base substitution G A exon_variant MELA-AU 9 6506062 6506062 single base substitution G A synonymous_variant Q764Q 2292G>A MELA-AU 9 6506672 6506672 single base substitution T A 3_prime_UTR_variant MELA-AU 9 6506672 6506672 single base substitution T A downstream_gene_variant MELA-AU 9 6506672 6506672 single base substitution T A exon_variant MELA-AU 9 6507606 6507606 single base substitution C T downstream_gene_variant MELA-AU 9 6508100 6508100 single base substitution C T downstream_gene_variant MELA-AU 9 6508475 6508475 single base substitution C T downstream_gene_variant MELA-AU 9 6508631 6508631 single base substitution G A downstream_gene_variant MELA-AU 9 6509349 6509349 single base substitution C T downstream_gene_variant MELA-AU 9 6509471 6509471 single base substitution A T downstream_gene_variant MELA-AU 9 6509995 6509995 single base substitution C T downstream_gene_variant MELA-AU 9 6510580 6510580 single base substitution C T downstream_gene_variant ORCA-IN 9 6413569 6413569 single base substitution G A exon_variant ORCA-IN 9 6413569 6413569 single base substitution G A missense_variant E27K 79G>A ORCA-IN 9 6413569 6413569 single base substitution G A upstream_gene_variant ORCA-IN 9 6417657 6417657 single base substitution C G intron_variant ORCA-IN 9 6417657 6417657 single base substitution C G upstream_gene_variant ORCA-IN 9 6419894 6419894 single base substitution C G intron_variant ORCA-IN 9 6419894 6419894 single base substitution C G upstream_gene_variant ORCA-IN 9 6432537 6432537 single base substitution G T intron_variant ORCA-IN 9 6432537 6432537 single base substitution G T upstream_gene_variant ORCA-IN 9 6450550 6450550 single base substitution G A intron_variant ORCA-IN 9 6451772 6451773 multiple base substitution (>=2bp and <=200bp) GT TG intron_variant ORCA-IN 9 6475190 6475190 single base substitution C G intron_variant ORCA-IN 9 6482086 6482086 single base substitution G A downstream_gene_variant ORCA-IN 9 6482086 6482086 single base substitution G A exon_variant ORCA-IN 9 6482086 6482086 single base substitution G A missense_variant R460K 1379G>A ORCA-IN 9 6482086 6482086 single base substitution G A upstream_gene_variant ORCA-IN 9 6489728 6489728 deletion of <=200bp G - intron_variant ORCA-IN 9 6512025 6512025 single base substitution C G downstream_gene_variant OV-AU 9 6416826 6416826 single base substitution C T intron_variant OV-AU 9 6416826 6416826 single base substitution C T upstream_gene_variant OV-AU 9 6425492 6425492 single base substitution T C downstream_gene_variant OV-AU 9 6425492 6425492 single base substitution T C intron_variant OV-AU 9 6432076 6432076 single base substitution G C intron_variant OV-AU 9 6432076 6432076 single base substitution G C upstream_gene_variant OV-AU 9 6439856 6439856 single base substitution C G intron_variant OV-AU 9 6443472 6443472 single base substitution T C intron_variant OV-AU 9 6443586 6443586 single base substitution G A intron_variant OV-AU 9 6445874 6445874 single base substitution A C intron_variant OV-AU 9 6462183 6462183 single base substitution C A downstream_gene_variant OV-AU 9 6462183 6462183 single base substitution C A intron_variant OV-AU 9 6466778 6466778 single base substitution C G intron_variant OV-AU 9 6468998 6468998 single base substitution G A intron_variant OV-AU 9 6469366 6469366 single base substitution A C intron_variant OV-AU 9 6488374 6488374 single base substitution A G intron_variant OV-AU 9 6498832 6498832 single base substitution C G downstream_gene_variant OV-AU 9 6498832 6498832 single base substitution C G exon_variant OV-AU 9 6498832 6498832 single base substitution C G intron_variant OV-AU 9 6509241 6509241 single base substitution C T downstream_gene_variant OV-AU 9 6510190 6510190 single base substitution G C downstream_gene_variant PACA-AU 9 6411630 6411630 single base substitution T G upstream_gene_variant PACA-AU 9 6416826 6416826 single base substitution C T intron_variant PACA-AU 9 6416826 6416826 single base substitution C T upstream_gene_variant PACA-AU 9 6420726 6420726 single base substitution G A intron_variant PACA-AU 9 6420726 6420726 single base substitution G A upstream_gene_variant PACA-AU 9 6428553 6428553 single base substitution T A intron_variant PACA-AU 9 6428683 6428683 single base substitution G A intron_variant PACA-AU 9 6429503 6429503 deletion of <=200bp T - intron_variant PACA-AU 9 6429503 6429503 deletion of <=200bp T - upstream_gene_variant PACA-AU 9 6429596 6429596 single base substitution G A intron_variant PACA-AU 9 6429596 6429596 single base substitution G A upstream_gene_variant PACA-AU 9 6429597 6429597 single base substitution C T intron_variant PACA-AU 9 6429597 6429597 single base substitution C T upstream_gene_variant PACA-AU 9 6436135 6436135 single base substitution A G downstream_gene_variant PACA-AU 9 6436135 6436135 single base substitution A G intron_variant PACA-AU 9 6451119 6451119 single base substitution C T intron_variant PACA-AU 9 6466549 6466549 single base substitution A G intron_variant PACA-AU 9 6467753 6467753 single base substitution T C intron_variant PACA-AU 9 6471724 6471724 single base substitution T C intron_variant PACA-AU 9 6492495 6492495 single base substitution G T exon_variant PACA-AU 9 6492495 6492495 single base substitution G T intron_variant PACA-AU 9 6492495 6492495 single base substitution G T upstream_gene_variant PACA-AU 9 6499191 6499191 single base substitution C T downstream_gene_variant PACA-AU 9 6499191 6499191 single base substitution C T exon_variant PACA-AU 9 6499191 6499191 single base substitution C T intron_variant PACA-AU 9 6501653 6501653 single base substitution A T downstream_gene_variant PACA-AU 9 6501653 6501653 single base substitution A T intron_variant PACA-AU 9 6501653 6501653 single base substitution A T upstream_gene_variant PACA-AU 9 6502125 6502125 single base substitution C T downstream_gene_variant PACA-AU 9 6502125 6502125 single base substitution C T intron_variant PACA-AU 9 6502125 6502125 single base substitution C T upstream_gene_variant PACA-AU 9 6505309 6505309 single base substitution A T intron_variant PACA-CA 9 6409218 6409218 single base substitution C A upstream_gene_variant PACA-CA 9 6409527 6409527 single base substitution T C upstream_gene_variant PACA-CA 9 6409883 6409883 single base substitution C T upstream_gene_variant PACA-CA 9 6412941 6412941 single base substitution G A upstream_gene_variant PACA-CA 9 6416655 6416655 single base substitution T A intron_variant PACA-CA 9 6416655 6416655 single base substitution T A upstream_gene_variant PACA-CA 9 6418800 6418800 single base substitution T C intron_variant PACA-CA 9 6418800 6418800 single base substitution T C upstream_gene_variant PACA-CA 9 6422725 6422725 single base substitution C T 3_prime_UTR_variant PACA-CA 9 6422725 6422725 single base substitution C T intron_variant PACA-CA 9 6425822 6425822 single base substitution G C downstream_gene_variant PACA-CA 9 6425822 6425822 single base substitution G C intron_variant PACA-CA 9 6427237 6427237 single base substitution A G downstream_gene_variant PACA-CA 9 6427237 6427237 single base substitution A G intron_variant PACA-CA 9 6427905 6427905 single base substitution G A downstream_gene_variant PACA-CA 9 6427905 6427905 single base substitution G A intron_variant PACA-CA 9 6437087 6437087 single base substitution C G downstream_gene_variant PACA-CA 9 6437087 6437087 single base substitution C G intron_variant PACA-CA 9 6440020 6440020 single base substitution C A intron_variant PACA-CA 9 6440737 6440737 single base substitution C T intron_variant PACA-CA 9 6443537 6443537 single base substitution T C intron_variant PACA-CA 9 6451478 6451478 single base substitution T C intron_variant PACA-CA 9 6454205 6454205 single base substitution G A intron_variant PACA-CA 9 6456068 6456068 single base substitution T G intron_variant PACA-CA 9 6469503 6469503 single base substitution C T intron_variant PACA-CA 9 6475773 6475773 single base substitution T A intron_variant PACA-CA 9 6486986 6486986 single base substitution G T intron_variant PACA-CA 9 6492456 6492456 single base substitution G A exon_variant PACA-CA 9 6492456 6492456 single base substitution G A intron_variant PACA-CA 9 6492456 6492456 single base substitution G A upstream_gene_variant PACA-CA 9 6493531 6493531 single base substitution A T downstream_gene_variant PACA-CA 9 6493531 6493531 single base substitution A T intron_variant PACA-CA 9 6493531 6493531 single base substitution A T upstream_gene_variant PACA-CA 9 6495824 6495824 single base substitution C T downstream_gene_variant PACA-CA 9 6495824 6495824 single base substitution C T exon_variant PACA-CA 9 6495824 6495824 single base substitution C T intron_variant PACA-CA 9 6495824 6495824 single base substitution C T upstream_gene_variant PACA-CA 9 6504268 6504268 single base substitution G A intron_variant PACA-CA 9 6504268 6504268 single base substitution G A upstream_gene_variant PACA-CA 9 6509500 6509500 single base substitution G C downstream_gene_variant PAEN-AU 9 6437021 6437021 single base substitution C T downstream_gene_variant PAEN-AU 9 6437021 6437021 single base substitution C T intron_variant PAEN-AU 9 6475131 6475131 single base substitution A G intron_variant PAEN-AU 9 6499245 6499245 single base substitution A C downstream_gene_variant PAEN-AU 9 6499245 6499245 single base substitution A C exon_variant PAEN-AU 9 6499245 6499245 single base substitution A C intron_variant PAEN-IT 9 6465458 6465458 single base substitution A C downstream_gene_variant PAEN-IT 9 6465458 6465458 single base substitution A C intron_variant PAEN-IT 9 6468111 6468111 single base substitution A G intron_variant PAEN-IT 9 6506279 6506279 single base substitution C T 3_prime_UTR_variant PAEN-IT 9 6506279 6506279 single base substitution C T downstream_gene_variant PAEN-IT 9 6506279 6506279 single base substitution C T exon_variant PBCA-DE 9 6418218 6418218 single base substitution G T intron_variant PBCA-DE 9 6418218 6418218 single base substitution G T upstream_gene_variant PBCA-DE 9 6420819 6420819 single base substitution G T intron_variant PBCA-DE 9 6420819 6420819 single base substitution G T upstream_gene_variant PBCA-DE 9 6432080 6432080 single base substitution G T intron_variant PBCA-DE 9 6432080 6432080 single base substitution G T upstream_gene_variant PBCA-DE 9 6433878 6433878 single base substitution A G intron_variant PBCA-DE 9 6433878 6433878 single base substitution A G upstream_gene_variant PBCA-DE 9 6440850 6440850 single base substitution G T intron_variant PBCA-DE 9 6480315 6480315 single base substitution G A downstream_gene_variant PBCA-DE 9 6480315 6480315 single base substitution G A intron_variant PBCA-DE 9 6480315 6480315 single base substitution G A upstream_gene_variant PBCA-DE 9 6492682 6492682 single base substitution A G exon_variant PBCA-DE 9 6492682 6492682 single base substitution A G intron_variant PBCA-DE 9 6492682 6492682 single base substitution A G upstream_gene_variant PBCA-DE 9 6493594 6493594 single base substitution T A downstream_gene_variant PBCA-DE 9 6493594 6493594 single base substitution T A intron_variant PBCA-DE 9 6493594 6493594 single base substitution T A upstream_gene_variant PBCA-DE 9 6501210 6501213 deletion of <=200bp TTAA - downstream_gene_variant PBCA-DE 9 6501210 6501213 deletion of <=200bp TTAA - intron_variant PBCA-DE 9 6501210 6501213 deletion of <=200bp TTAA - upstream_gene_variant PRAD-CA 9 6409407 6409407 single base substitution A C upstream_gene_variant PRAD-CA 9 6418218 6418218 single base substitution G T intron_variant PRAD-CA 9 6418218 6418218 single base substitution G T upstream_gene_variant PRAD-CA 9 6451800 6451800 single base substitution T G intron_variant PRAD-UK 9 6412362 6412362 single base substitution C T upstream_gene_variant PRAD-UK 9 6424459 6424459 single base substitution A G downstream_gene_variant PRAD-UK 9 6424459 6424459 single base substitution A G intron_variant PRAD-UK 9 6434112 6434112 single base substitution A G downstream_gene_variant PRAD-UK 9 6434112 6434112 single base substitution A G exon_variant PRAD-UK 9 6434112 6434112 single base substitution A G intron_variant PRAD-UK 9 6434112 6434112 single base substitution A G missense_variant T195A 583A>G PRAD-UK 9 6435283 6435283 single base substitution C T downstream_gene_variant PRAD-UK 9 6435283 6435283 single base substitution C T intron_variant PRAD-UK 9 6444469 6444469 single base substitution C T intron_variant PRAD-UK 9 6448745 6448745 single base substitution T G intron_variant PRAD-UK 9 6457611 6457611 single base substitution T C intron_variant PRAD-UK 9 6467190 6467190 single base substitution C T intron_variant PRAD-UK 9 6467866 6467866 single base substitution G A intron_variant PRAD-UK 9 6470611 6470611 single base substitution T A intron_variant PRAD-UK 9 6507158 6507158 insertion of <=200bp - T downstream_gene_variant PRAD-US 9 6504676 6504676 single base substitution C T 3_prime_UTR_variant PRAD-US 9 6504676 6504676 single base substitution C T exon_variant PRAD-US 9 6504676 6504676 single base substitution C T synonymous_variant F749F 2247C>T RECA-EU 9 6415180 6415180 single base substitution A T intron_variant RECA-EU 9 6426666 6426666 single base substitution A G downstream_gene_variant RECA-EU 9 6426666 6426666 single base substitution A G intron_variant RECA-EU 9 6430020 6430020 single base substitution T A intron_variant RECA-EU 9 6430020 6430020 single base substitution T A upstream_gene_variant RECA-EU 9 6457372 6457372 single base substitution G C intron_variant RECA-EU 9 6458270 6458270 single base substitution A T intron_variant RECA-EU 9 6459240 6459240 single base substitution C G intron_variant RECA-EU 9 6464149 6464149 single base substitution G T downstream_gene_variant RECA-EU 9 6464149 6464149 single base substitution G T intron_variant RECA-EU 9 6467984 6467984 single base substitution C G intron_variant RECA-EU 9 6477421 6477421 single base substitution G T intron_variant RECA-EU 9 6477421 6477421 single base substitution G T upstream_gene_variant RECA-EU 9 6484789 6484789 single base substitution T C intron_variant RECA-EU 9 6484789 6484789 single base substitution T C upstream_gene_variant RECA-EU 9 6491181 6491181 single base substitution G T intron_variant RECA-EU 9 6500353 6500353 single base substitution G A downstream_gene_variant RECA-EU 9 6500353 6500353 single base substitution G A intron_variant RECA-EU 9 6500353 6500353 single base substitution G A upstream_gene_variant RECA-EU 9 6505268 6505268 single base substitution A T intron_variant SKCA-BR 9 6412678 6412678 single base substitution A G upstream_gene_variant SKCA-BR 9 6412686 6412686 single base substitution C G upstream_gene_variant SKCA-BR 9 6418259 6418261 deletion of <=200bp CTT - intron_variant SKCA-BR 9 6418259 6418261 deletion of <=200bp CTT - upstream_gene_variant SKCA-BR 9 6423383 6423383 single base substitution A G downstream_gene_variant SKCA-BR 9 6423383 6423383 single base substitution A G intron_variant SKCA-BR 9 6424127 6424127 single base substitution C T downstream_gene_variant SKCA-BR 9 6424127 6424127 single base substitution C T intron_variant SKCA-BR 9 6424252 6424252 single base substitution C T downstream_gene_variant SKCA-BR 9 6424252 6424252 single base substitution C T intron_variant SKCA-BR 9 6425582 6425582 single base substitution C T downstream_gene_variant SKCA-BR 9 6425582 6425582 single base substitution C T intron_variant SKCA-BR 9 6425632 6425632 single base substitution A G downstream_gene_variant SKCA-BR 9 6425632 6425632 single base substitution A G intron_variant SKCA-BR 9 6435116 6435116 single base substitution C T downstream_gene_variant SKCA-BR 9 6435116 6435116 single base substitution C T intron_variant SKCA-BR 9 6438898 6438898 single base substitution G C downstream_gene_variant SKCA-BR 9 6438898 6438898 single base substitution G C intron_variant SKCA-BR 9 6444917 6444917 single base substitution C T intron_variant SKCA-BR 9 6445031 6445031 single base substitution C T intron_variant SKCA-BR 9 6445126 6445126 single base substitution T A intron_variant SKCA-BR 9 6445356 6445356 single base substitution C A intron_variant SKCA-BR 9 6445985 6445985 single base substitution T G intron_variant SKCA-BR 9 6446445 6446445 insertion of <=200bp - AT intron_variant SKCA-BR 9 6447629 6447629 single base substitution T G intron_variant SKCA-BR 9 6451773 6451773 insertion of <=200bp - TTTGTTGTTGTTG intron_variant SKCA-BR 9 6451800 6451800 single base substitution T G intron_variant SKCA-BR 9 6453186 6453186 single base substitution C T intron_variant SKCA-BR 9 6456176 6456176 single base substitution T C intron_variant SKCA-BR 9 6457169 6457169 single base substitution C T intron_variant SKCA-BR 9 6458904 6458904 single base substitution C T intron_variant SKCA-BR 9 6459213 6459213 single base substitution T A intron_variant SKCA-BR 9 6470358 6470359 deletion of <=200bp CA - intron_variant SKCA-BR 9 6473954 6473954 single base substitution G A intron_variant SKCA-BR 9 6479004 6479004 single base substitution C T downstream_gene_variant SKCA-BR 9 6479004 6479004 single base substitution C T intron_variant SKCA-BR 9 6479004 6479004 single base substitution C T upstream_gene_variant SKCA-BR 9 6484787 6484787 insertion of <=200bp - TTC intron_variant SKCA-BR 9 6484787 6484787 insertion of <=200bp - TTC upstream_gene_variant SKCA-BR 9 6486907 6486907 single base substitution T G exon_variant SKCA-BR 9 6486907 6486907 single base substitution T G synonymous_variant G493G 1479T>G SKCA-BR 9 6487182 6487182 single base substitution C T intron_variant SKCA-BR 9 6489760 6489760 single base substitution T C intron_variant SKCA-BR 9 6496906 6496906 single base substitution C T downstream_gene_variant SKCA-BR 9 6496906 6496906 single base substitution C T exon_variant SKCA-BR 9 6496906 6496906 single base substitution C T intron_variant SKCA-BR 9 6496906 6496906 single base substitution C T upstream_gene_variant SKCA-BR 9 6497724 6497724 single base substitution C T downstream_gene_variant SKCA-BR 9 6497724 6497724 single base substitution C T intron_variant SKCA-BR 9 6497724 6497724 single base substitution C T upstream_gene_variant SKCA-BR 9 6503170 6503170 single base substitution A T intron_variant SKCA-BR 9 6503170 6503170 single base substitution A T upstream_gene_variant SKCA-BR 9 6506608 6506608 single base substitution C T 3_prime_UTR_variant SKCA-BR 9 6506608 6506608 single base substitution C T downstream_gene_variant SKCA-BR 9 6506608 6506608 single base substitution C T exon_variant SKCM-US 9 6460786 6460786 single base substitution C T downstream_gene_variant SKCM-US 9 6460786 6460786 single base substitution C T exon_variant SKCM-US 9 6460786 6460786 single base substitution C T synonymous_variant F286F 858C>T SKCM-US 9 6460786 6460786 single base substitution C T synonymous_variant F63F 189C>T STAD-US 9 6460623 6460623 single base substitution G A downstream_gene_variant STAD-US 9 6460623 6460623 single base substitution G A exon_variant STAD-US 9 6460623 6460623 single base substitution G A missense_variant R232Q 695G>A STAD-US 9 6460623 6460623 single base substitution G A missense_variant R9Q 26G>A STAD-US 9 6475403 6475403 single base substitution A T exon_variant STAD-US 9 6475403 6475403 single base substitution A T synonymous_variant G292G 876A>T STAD-US 9 6475403 6475403 single base substitution A T synonymous_variant G69G 207A>T STAD-US 9 6482085 6482085 single base substitution A T downstream_gene_variant STAD-US 9 6482085 6482085 single base substitution A T exon_variant STAD-US 9 6482085 6482085 single base substitution A T stop_gained R460* 1378A>T STAD-US 9 6482085 6482085 single base substitution A T upstream_gene_variant STAD-US 9 6486850 6486850 single base substitution T C exon_variant STAD-US 9 6486850 6486850 single base substitution T C synonymous_variant H474H 1422T>C STAD-US 9 6486850 6486850 single base substitution T C upstream_gene_variant STAD-US 9 6498070 6498070 single base substitution G A 3_prime_UTR_variant STAD-US 9 6498070 6498070 single base substitution G A downstream_gene_variant STAD-US 9 6498070 6498070 single base substitution G A exon_variant STAD-US 9 6498070 6498070 single base substitution G A missense_variant R607H 1820G>A STAD-US 9 6498070 6498070 single base substitution G A upstream_gene_variant STAD-US 9 6498129 6498129 single base substitution C T 3_prime_UTR_variant STAD-US 9 6498129 6498129 single base substitution C T downstream_gene_variant STAD-US 9 6498129 6498129 single base substitution C T exon_variant STAD-US 9 6498129 6498129 single base substitution C T missense_variant R627W 1879C>T STAD-US 9 6498129 6498129 single base substitution C T upstream_gene_variant STAD-US 9 6504628 6504628 single base substitution C T 3_prime_UTR_variant STAD-US 9 6504628 6504628 single base substitution C T exon_variant STAD-US 9 6504628 6504628 single base substitution C T synonymous_variant C733C 2199C>T UCEC-US 9 6413516 6413516 single base substitution A G exon_variant UCEC-US 9 6413516 6413516 single base substitution A G missense_variant D9G 26A>G UCEC-US 9 6413516 6413516 single base substitution A G upstream_gene_variant UCEC-US 9 6413543 6413543 single base substitution A G exon_variant UCEC-US 9 6413543 6413543 single base substitution A G missense_variant D18G 53A>G UCEC-US 9 6413543 6413543 single base substitution A G upstream_gene_variant UCEC-US 9 6420949 6420949 single base substitution G A exon_variant UCEC-US 9 6420949 6420949 single base substitution G A missense_variant G64E 191G>A UCEC-US 9 6420949 6420949 single base substitution G A upstream_gene_variant UCEC-US 9 6420974 6420974 single base substitution A T exon_variant UCEC-US 9 6420974 6420974 single base substitution A T synonymous_variant L72L 216A>T UCEC-US 9 6420974 6420974 single base substitution A T upstream_gene_variant UCEC-US 9 6421126 6421126 single base substitution G A 5_prime_UTR_variant UCEC-US 9 6421126 6421126 single base substitution G A exon_variant UCEC-US 9 6421126 6421126 single base substitution G A missense_variant G123D 368G>A UCEC-US 9 6433968 6433968 single base substitution C T exon_variant UCEC-US 9 6433968 6433968 single base substitution C T intron_variant UCEC-US 9 6433968 6433968 single base substitution C T missense_variant H147Y 439C>T UCEC-US 9 6433968 6433968 single base substitution C T upstream_gene_variant UCEC-US 9 6434147 6434147 single base substitution C T downstream_gene_variant UCEC-US 9 6434147 6434147 single base substitution C T exon_variant UCEC-US 9 6434147 6434147 single base substitution C T intron_variant UCEC-US 9 6434147 6434147 single base substitution C T synonymous_variant D206D 618C>T UCEC-US 9 6475489 6475489 single base substitution G A exon_variant UCEC-US 9 6475489 6475489 single base substitution G A missense_variant G321E 962G>A UCEC-US 9 6475489 6475489 single base substitution G A missense_variant G98E 293G>A UCEC-US 9 6481664 6481664 single base substitution T C downstream_gene_variant UCEC-US 9 6481664 6481664 single base substitution T C exon_variant UCEC-US 9 6481664 6481664 single base substitution T C synonymous_variant T394T 1182T>C UCEC-US 9 6481664 6481664 single base substitution T C upstream_gene_variant UCEC-US 9 6482018 6482018 single base substitution A C downstream_gene_variant UCEC-US 9 6482018 6482018 single base substitution A C exon_variant UCEC-US 9 6482018 6482018 single base substitution A C missense_variant R437S 1311A>C UCEC-US 9 6482018 6482018 single base substitution A C upstream_gene_variant UCEC-US 9 6482096 6482096 single base substitution T C downstream_gene_variant UCEC-US 9 6482096 6482096 single base substitution T C exon_variant UCEC-US 9 6482096 6482096 single base substitution T C synonymous_variant V463V 1389T>C UCEC-US 9 6482096 6482096 single base substitution T C upstream_gene_variant UCEC-US 9 6498151 6498151 single base substitution G A 3_prime_UTR_variant UCEC-US 9 6498151 6498151 single base substitution G A downstream_gene_variant UCEC-US 9 6498151 6498151 single base substitution G A exon_variant UCEC-US 9 6498151 6498151 single base substitution G A missense_variant R634H 1901G>A UCEC-US 9 6498151 6498151 single base substitution G A upstream_gene_variant UCEC-US 9 6500582 6500582 single base substitution A C 3_prime_UTR_variant UCEC-US 9 6500582 6500582 single base substitution A C downstream_gene_variant UCEC-US 9 6500582 6500582 single base substitution A C exon_variant UCEC-US 9 6500582 6500582 single base substitution A C missense_variant K679T 2036A>C UCEC-US 9 6500582 6500582 single base substitution A C upstream_gene_variant UCEC-US 9 6504624 6504624 single base substitution T C 3_prime_UTR_variant UCEC-US 9 6504624 6504624 single base substitution T C exon_variant UCEC-US 9 6504624 6504624 single base substitution T C missense_variant M732T 2195T>C UCEC-US 9 6506173 6506173 single base substitution A G 3_prime_UTR_variant UCEC-US 9 6506173 6506173 single base substitution A G downstream_gene_variant UCEC-US 9 6506173 6506173 single base substitution A G exon_variant UCEC-US 9 6506173 6506173 single base substitution A G synonymous_variant G801G 2403A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SC_9008 COSM3907607 c.2199C>T p.C733C Substitution - coding silent 9:6504628-6504628 + TCGA-CG-4306-01 COSM3907604 c.1378A>T p.R460* Substitution - Nonsense 9:6482085-6482085 + TCGA-28-1753-01 COSM3413686 c.11A>G p.Q4R Substitution - Missense 9:6413501-6413501 + CHC1209T COSM4804628 c.643G>T p.E215* Substitution - Nonsense 9:6434172-6434172 + TCGA-AZ-6599-01 COSM1462672 c.71C>T p.T24M Substitution - Missense 9:6413561-6413561 + CSCC-27-T COSM4533064 c.1944G>A p.K648K Substitution - coding silent 9:6499870-6499870 + TCGA-AP-A056-01 COSM1109531 c.1389T>C p.V463V Substitution - coding silent 9:6482096-6482096 + TCGA-CK-4951-01 COSM5153041 c.2271A>G p.L757L Substitution - coding silent 9:6506041-6506041 + TCGA-AP-A059-01 COSM1109526 c.439C>T p.H147Y Substitution - Missense 9:6433968-6433968 + Case4 COSM1579331 c.2020G>T p.A674S Substitution - Missense 9:6500566-6500566 + RKO COSM4649340 c.351C>T p.A117A Substitution - coding silent 9:6421109-6421109 + TCGA-BR-4184-01 COSM3907607 c.2199C>T p.C733C Substitution - coding silent 9:6504628-6504628 + TCGA-EA-A6QX-01 COSM4828805 c.619G>A p.V207I Substitution - Missense 9:6434148-6434148 + TCGA-A6-6781-01 COSM1462676 c.1697G>A p.R566H Substitution - Missense 9:6497290-6497290 + TCGA-QU-A6IN-01 COSM4876862 c.2247C>T p.F749F Substitution - coding silent 9:6504676-6504676 + 587288 COSM1231713 c.1115A>G p.Y372C Substitution - Missense 9:6477763-6477763 + TCGA-AA-A00N-01 COSM298862 c.731T>C p.V244A Substitution - Missense 9:6460659-6460659 + TCGA-CG-5724-01 COSM1462673 c.695G>A p.R232Q Substitution - Missense 9:6460623-6460623 + TCGA-BR-4370-01 COSM1462677 c.1879C>T p.R627W Substitution - Missense 9:6498129-6498129 + CLN3 COSM5024617 c.1668G>C p.W556C Substitution - Missense 9:6497261-6497261 + TCGA-AA-3864-01 COSM3907607 c.2199C>T p.C733C Substitution - coding silent 9:6504628-6504628 + MSK-PCa2_organoid COSM5423657 c.2137G>C p.V713L Substitution - Missense 9:6500683-6500683 + TCGA-AA-3821-01 COSM294928 c.1106A>T p.Y369F Substitution - Missense 9:6477754-6477754 + ACINAR11 COSM1735131 c.178G>T p.D60Y Substitution - Missense 9:6420936-6420936 + DN1307F COSM5962428 c.102G>T p.A34A Substitution - coding silent 9:6413592-6413592 + TCGA-CK-4951-01 COSM5153042 c.2281T>G p.F761V Substitution - Missense 9:6506051-6506051 + CHC892T COSM4795603 c.1488G>A p.A496A Substitution - coding silent 9:6486916-6486916 + tumor_4166706 COSM3953223 c.81G>C p.E27D Substitution - Missense 9:6413571-6413571 + 587376 COSM1231712 c.2276G>A p.R759H Substitution - Missense 9:6506046-6506046 + TCGA-A3-3320-01 COSM1497043 c.154-2A>T p.? Unknown 9:6420910-6420910 + OSCC-GB_01370111 COSM5955662 c.1379G>A p.R460K Substitution - Missense 9:6482086-6482086 + TCGA-AP-A059-01 COSM1109527 c.618C>T p.D206D Substitution - coding silent 9:6434147-6434147 + HCT15 COSM2777774 c.1923C>T p.Y641Y Substitution - coding silent 9:6499849-6499849 + DN14065 COSM5962857 c.353G>A p.R118H Substitution - Missense 9:6421111-6421111 + TCGA-AU-6004-01 COSM1462675 c.1277delG p.G427fs*39 Deletion - Frameshift 9:6481759-6481759 + 2318494 COSM4776587 c.1604+1G>A p.? Unknown 9:6493933-6493933 + ESCC_130 COSM4163947 c.1479T>G p.G493G Substitution - coding silent 9:6486907-6486907 + 112638 COSM95428 c.2196G>C p.M732I Substitution - Missense 9:6504625-6504625 + TCGA-AP-A0LT-01 COSM1109521 c.26A>G p.D9G Substitution - Missense 9:6413516-6413516 + C391 COSM4441850 c.190G>T p.G64* Substitution - Nonsense 9:6420948-6420948 + TCGA-CG-5721-01 COSM3907605 c.1422T>C p.H474H Substitution - coding silent 9:6486850-6486850 + MSK-PCa2_tissue COSM5423657 c.2137G>C p.V713L Substitution - Missense 9:6500683-6500683 + TCGA-B5-A11Y-01 COSM1109532 c.1901G>A p.R634H Substitution - Missense 9:6498151-6498151 + SNU-C4 COSM4654505 c.952T>A p.F318I Substitution - Missense 9:6475479-6475479 + TCGA-BS-A0UV-01 COSM1109534 c.2195T>C p.M732T Substitution - Missense 9:6504624-6504624 + TCGA-AP-A0LM-01 COSM1109522 c.53A>G p.D18G Substitution - Missense 9:6413543-6413543 + TCGA-AP-A059-01 COSM1109525 c.368G>A p.G123D Substitution - Missense 9:6421126-6421126 + 47 COSM5011974 c.221G>A p.R74H Substitution - Missense 9:6420979-6420979 + I2L-P7-Tumor-Organoid COSM5359148 c.1605-8delT p.? Unknown 9:6497190-6497190 + RK014_C01 COSM1636199 c.1696C>T p.R566C Substitution - Missense 9:6497289-6497289 + SC_9072 COSM5568119 c.1031C>G p.S344C Substitution - Missense 9:6477679-6477679 + TCGA-A3-3362-01 COSM487505 c.230C>G p.P77R Substitution - Missense 9:6420988-6420988 + YUKAT COSM5411137 c.2022C>T p.A674A Substitution - coding silent 9:6500568-6500568 + TCGA-AD-5900-01 COSM1462673 c.695G>A p.R232Q Substitution - Missense 9:6460623-6460623 + HDC54 COSM4636534 c.121G>C p.E41Q Substitution - Missense 9:6413611-6413611 + 0063_CRUK_PC_0063_T1_DNA COSM5420838 c.583A>G p.T195A Substitution - Missense 9:6434112-6434112 + I2L-P9-Tumor-Biopsy COSM5359725 c.974-1G>C p.? Unknown 9:6477621-6477621 + SJRHB020A COSM3737955 c.2315G>A p.R772Q Substitution - Missense 9:6506085-6506085 + OSCC-GB_01080111 COSM4884330 c.79G>A p.E27K Substitution - Missense 9:6413569-6413569 + TCGA-DD-A119-01 COSM4919770 c.1527A>G p.G509G Substitution - coding silent 9:6493855-6493855 + S0100 COSM5884869 c.1399G>A p.E467K Substitution - Missense 9:6486827-6486827 + TCGA-CA-6718-01 COSM1462674 c.915C>T p.I305I Substitution - coding silent 9:6475442-6475442 + 2474087 COSM5880141 c.2163+7G>A p.? Unknown 9:6500716-6500716 + TCGA-B5-A11G-01 COSM1109529 c.1182T>C p.T394T Substitution - coding silent 9:6481664-6481664 + TCGA-WS-AB45-01 COSM5191946 c.92G>A p.R31Q Substitution - Missense 9:6413582-6413582 + HCC135T COSM5823090 c.1307C>G p.T436R Substitution - Missense 9:6482014-6482014 + DLD1 COSM2777774 c.1923C>T p.Y641Y Substitution - coding silent 9:6499849-6499849 + RK047_C01 COSM1636200 c.2222A>C p.Y741S Substitution - Missense 9:6504651-6504651 + LUAD-E00897 COSM364822 c.1767+1G>T p.? Unknown 9:6497361-6497361 + PD11369a COSM5789965 c.1411C>A p.H471N Substitution - Missense 9:6486839-6486839 + 587222 COSM1231711 c.721G>T p.E241* Substitution - Nonsense 9:6460649-6460649 + 464 COSM4437080 c.335C>G p.S112C Substitution - Missense 9:6421093-6421093 + Hx218 COSM33010 c.260T>A p.I87N Substitution - Missense 9:6421018-6421018 + TCGA-BS-A0UJ-01 COSM1109524 c.216A>T p.L72L Substitution - coding silent 9:6420974-6420974 + TCGA-D1-A103-01 COSM1109533 c.2036A>C p.K679T Substitution - Missense 9:6500582-6500582 + MO_1184 COSM5553637 c.1867G>A p.E623K Substitution - Missense 9:6498117-6498117 + ccRCC-105 COSM1664886 c.2039C>T p.A680V Substitution - Missense 9:6500585-6500585 + PTC-515C COSM4163947 c.1479T>G p.G493G Substitution - coding silent 9:6486907-6486907 + SNUH_G73_S1 COSM4416110 c.2268C>T p.C756C Substitution - coding silent 9:6506038-6506038 + TCGA-BR-4362-01 COSM3907606 c.1820G>A p.R607H Substitution - Missense 9:6498070-6498070 + I2L-P9-Tumor-Organoid COSM5359725 c.974-1G>C p.? Unknown 9:6477621-6477621 + Pat_44_B COSM5876310 c.2305C>T p.P769S Substitution - Missense 9:6506075-6506075 + CHC1209T COSM4804628 c.643G>T p.E215* Substitution - Nonsense 9:6434172-6434172 + TCGA-A8-A0A6-01 COSM3848646 c.1128A>C p.P376P Substitution - coding silent 9:6477776-6477776 + PTC-73C COSM4163947 c.1479T>G p.G493G Substitution - coding silent 9:6486907-6486907 + 2293782 COSM4609463 c.1586C>A p.T529K Substitution - Missense 9:6493914-6493914 + ESCC_91 COSM1462674 c.915C>T p.I305I Substitution - coding silent 9:6475442-6475442 + 180 COSM3724078 c.2204G>T p.C735F Substitution - Missense 9:6504633-6504633 + T1743 COSM4739146 c.1307C>T p.T436M Substitution - Missense 9:6482014-6482014 + CHC1209T COSM4804589 c.621T>C p.V207V Substitution - coding silent 9:6434150-6434150 + TCGA-AK-3451-01 COSM487506 c.848T>A p.V283E Substitution - Missense 9:6460776-6460776 + CSCC-27-T COSM4516762 c.2279_2280CC>TT p.S760F Substitution - Missense 9:6506049-6506050 + pfg053T COSM4749315 c.2152G>C p.V718L Substitution - Missense 9:6500698-6500698 + TCGA-ER-A193-06 COSM3657729 c.858C>T p.F286F Substitution - coding silent 9:6460786-6460786 + 11_tFL COSM4171895 c.1230A>C p.K410N Substitution - Missense 9:6481712-6481712 + TCGA-B0-5108-01 COSM487504 c.176T>C p.F59S Substitution - Missense 9:6420934-6420934 + TCGA-A2-A04T-01 COSM3848645 c.316G>C p.G106R Substitution - Missense 9:6421074-6421074 + TCGA-D1-A103-01 COSM1109530 c.1311A>C p.R437S Substitution - Missense 9:6482018-6482018 + TCGA-85-6561-01 COSM754387 c.807C>A p.T269T Substitution - coding silent 9:6460735-6460735 + PTC-54C COSM4163947 c.1479T>G p.G493G Substitution - coding silent 9:6486907-6486907 + TCGA-AP-A051-01 COSM1109528 c.962G>A p.G321E Substitution - Missense 9:6475489-6475489 + Mx32 COSM32661 c.1392+3A>G p.? Unknown 9:6482102-6482102 + Gp5D COSM2777758 c.874G>T p.G292* Substitution - Nonsense 9:6475401-6475401 + TCGA-BR-4257-01 COSM3907603 c.876A>T p.G292G Substitution - coding silent 9:6475403-6475403 + TCGA-CM-6674-01 COSM1462677 c.1879C>T p.R627W Substitution - Missense 9:6498129-6498129 + PT23_2 COSM5903732 c.645-6C>T p.? Unknown 9:6460567-6460567 + TCGA-DS-A0VK-01 COSM462387 c.584C>T p.T195M Substitution - Missense 9:6434113-6434113 + tumor_4166706 COSM3953224 c.100G>A p.A34T Substitution - Missense 9:6413590-6413590 + Gp2D COSM2777758 c.874G>T p.G292* Substitution - Nonsense 9:6475401-6475401 + TCGA-AA-3864-01 COSM5115534 c.1285-9G>A p.? Unknown 9:6481983-6481983 + S02384 COSM5698597 c.1377G>T p.W459C Substitution - Missense 9:6482084-6482084 + CHC892T COSM4795603 c.1488G>A p.A496A Substitution - coding silent 9:6486916-6486916 + T3498 COSM4739145 c.673A>G p.N225D Substitution - Missense 9:6460601-6460601 + RK268_C01 COSM4945433 c.2332A>G p.N778D Substitution - Missense 9:6506102-6506102 + 411 COSM4431025 c.2267G>A p.C756Y Substitution - Missense 9:6506037-6506037 + TCGA-CA-6718-01 COSM3907607 c.2199C>T p.C733C Substitution - coding silent 9:6504628-6504628 + LUAD-F00162 COSM366713 c.1076A>G p.Q359R Substitution - Missense 9:6477724-6477724 + ESO-007 COSM1269733 c.2338A>G p.I780V Substitution - Missense 9:6506108-6506108 + TCGA-BS-A0UF-01 COSM1109535 c.2403A>G p.G801G Substitution - coding silent 9:6506173-6506173 + TCGA-A3-3363-01 COSM1497043 c.154-2A>T p.? Unknown 9:6420910-6420910 + TCGA-A6-2686-01 COSM5086195 c.2170C>T p.L724L Substitution - coding silent 9:6504599-6504599 + CHC1209T COSM4804589 c.621T>C p.V207V Substitution - coding silent 9:6434150-6434150 + sysucc-311T COSM5467723 c.245G>A p.G82D Substitution - Missense 9:6421003-6421003 + sysucc-882T COSM5447859 c.1497+2T>C p.? Unknown 9:6486927-6486927 + TCGA-AY-6197-01 COSM5136784 c.1067C>A p.P356H Substitution - Missense 9:6477715-6477715 + 2474088 COSM5880141 c.2163+7G>A p.? Unknown 9:6500716-6500716 + TCGA-BS-A0TA-01 COSM1109523 c.191G>A p.G64E Substitution - Missense 9:6420949-6420949 + TCGA-DR-A0ZM-01 COSM462388 c.251C>G p.S84C Substitution - Missense 9:6421009-6421009 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.493311;Hs.493333;Hs.493362;Hs.493396;Hs.493401 9p24.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAA - MultiAAMissense p.E218_S219delinsG c.653_655delAAA 9 6460581 THCA A G IntronicSNV . c.1392+3A>G 9 6482102 COREAD A G IntronicSNV . c.1498-1144A>G 9 6492682 MB A G Missense p.D9G c.26A>G 9 6413516 UCEC A G Missense p.I780V c.2338A>G 9 6506108 ESCA A G Missense p.Q4R c.11A>G 9 6413501 GBM A T IntronicSNV . c.1909-175A>T 9 6499660 HC A T Nonsense p.R460* c.1378A>T 9 6482085 STAD A T Synonymous p.G292G c.876A>T 9 6475403 STAD CAGT - Frameshift p.V562Efs*2 c.1685_1688delTCAG 9 6497275 LGG C A Synonymous p.T269T c.807C>A 9 6460735 LUSC C G Missense p.L787V c.2359C>G 9 6506129 HNSC C G Missense p.P77R c.230C>G 9 6420988 RCCC C T Missense p.P231L c.692C>T 9 6460620 HNSC C T Missense p.R627W c.1879C>T 9 6498129 STAD C T Nonsense p.R232* c.694C>T 9 6460622 HNSC C T Synonymous p.F286F c.858C>T 9 6460786 CM C T Synonymous p.F749F c.2247C>T 9 6504676 PRAD C T Synonymous p.V138V c.414C>T 9 6433943 LUAD G A Missense p.G64E c.191G>A 9 6420949 UCEC G A Missense p.R232Q c.695G>A 9 6460623 STAD G A Missense p.R634H c.1901G>A 9 6498151 UCEC G A Missense p.R802Q c.2405G>A 9 6506175 LUAD G A Missense p.V367M c.1099G>A 9 6477747 LUAD G A Missense p.V591M c.1771G>A 9 6498021 CM G A Synonymous p.Q788Q c.2364G>A 9 6506134 HNSC G C IntronicSNV . c.1604+213G>C 9 6494145 DLBCL G C IntronicSNV . c.1909-498G>C 9 6499337 DLBCL G T 3-UTRSNV . c.2406+34G>T 9 6506210 STAD G T Missense p.G485W c.1453G>T 9 6486881 LUAD G T Missense p.S466I c.1397G>T 9 6486825 CM T A IntronicSNV . c.1604+305T>A 9 6494237 DLBCL T A Missense p.I87N c.260T>A 9 6421018 COREAD T C Missense p.F59S c.176T>C 9 6420934 RCCC T C Synonymous p.T394T c.1182T>C 9 6481664 UCEC T C Synonymous p.Y56Y c.168T>C 9 6420926 STAD