Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 16 56397994 56397994 + Silent SNP G G C TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr16:56397994G>C c.1623C>G c.(1621-1623)ctC>ctG p.L541L BLCA 16 56423172 56423172 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr16:56423172C>T c.1201G>A c.(1201-1203)Gag>Aag p.E401K BLCA 16 56423184 56423184 + Missense_Mutation SNP C C G TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr16:56423184C>G c.1189G>C c.(1189-1191)Gag>Cag p.E397Q BLCA 16 56423190 56423190 + Nonsense_Mutation SNP G G A TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr16:56423190G>A c.1183C>T c.(1183-1185)Caa>Taa p.Q395* BLCA 16 56423280 56423280 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr16:56423280G>C c.1093C>G c.(1093-1095)Ctt>Gtt p.L365V BLCA 16 56436917 56436917 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 g.chr16:56436917C>T c.954G>A c.(952-954)gtG>gtA p.V318V BLCA 16 56436925 56436925 + Missense_Mutation SNP G G C TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr16:56436925G>C c.946C>G c.(946-948)Cta>Gta p.L316V BLCA 16 56443414 56443414 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr16:56443414C>T c.435G>A c.(433-435)gtG>gtA p.V145V CESC 16 56396850 56396850 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr16:56396850G>A c.1903C>T c.(1903-1905)Cgg>Tgg p.R635W CHOL 16 56442015 56442015 + Missense_Mutation SNP G G T TCGA-W5-AA38-01A-11D-A417-09 TCGA-W5-AA38-10A-01D-A41A-09 g.chr16:56442015G>T c.527C>A c.(526-528)cCc>cAc p.P176H COAD 16 56397878 56397878 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr16:56397878C>T c.1739G>A c.(1738-1740)cGc>cAc p.R580H COAD 16 56403130 56403130 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr16:56403130C>T c.1490G>A c.(1489-1491)cGg>cAg p.R497Q COAD 16 56419878 56419878 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:56419878T>C c.1333A>G c.(1333-1335)Aac>Gac p.N445D COAD 16 56435678 56435678 + Missense_Mutation SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr16:56435678G>A c.1052C>T c.(1051-1053)gCg>gTg p.A351V COAD 16 56448186 56448186 + Missense_Mutation SNP G G C TCGA-AD-6888-01A-11D-1924-10 TCGA-AD-6888-10A-01D-1924-10 g.chr16:56448186G>C c.326C>G c.(325-327)cCt>cGt p.P109R COADREAD 16 56397878 56397878 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr16:56397878C>T c.1739G>A c.(1738-1740)cGc>cAc p.R580H COADREAD 16 56397907 56397907 + Silent SNP G G A TCGA-AG-3586-01A-02W-0831-10 TCGA-AG-3586-10A-01W-0831-10 g.chr16:56397907G>A c.1710C>T c.(1708-1710)cgC>cgT p.R570R COADREAD 16 56403130 56403130 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr16:56403130C>T c.1490G>A c.(1489-1491)cGg>cAg p.R497Q COADREAD 16 56419878 56419878 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:56419878T>C c.1333A>G c.(1333-1335)Aac>Gac p.N445D COADREAD 16 56435678 56435678 + Missense_Mutation SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr16:56435678G>A c.1052C>T c.(1051-1053)gCg>gTg p.A351V COADREAD 16 56443491 56443491 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:56443491C>A c.358G>T c.(358-360)Gac>Tac p.D120Y COADREAD 16 56448186 56448186 + Missense_Mutation SNP G G C TCGA-AD-6888-01A-11D-1924-10 TCGA-AD-6888-10A-01D-1924-10 g.chr16:56448186G>C c.326C>G c.(325-327)cCt>cGt p.P109R ESCA 16 56396854 56396854 + Silent SNP C C G TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr16:56396854C>G c.1899G>C c.(1897-1899)gcG>gcC p.A633A ESCA 16 56396935 56396935 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr16:56396935C>T c.1818G>A c.(1816-1818)gcG>gcA p.A606A ESCA 16 56397878 56397878 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr16:56397878C>T c.1739G>A c.(1738-1740)cGc>cAc p.R580H GBMLGG 16 56396893 56396893 + Silent SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 g.chr16:56396893G>A c.1860C>T c.(1858-1860)gaC>gaT p.D620D GBMLGG 16 56423204 56423204 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:56423204A>G c.1169T>C c.(1168-1170)gTc>gCc p.V390A GBMLGG 16 56423219 56423219 + Missense_Mutation SNP G G A TCGA-HT-7609-01A-11D-2086-08 TCGA-HT-7609-10A-01D-2086-08 g.chr16:56423219G>A c.1154C>T c.(1153-1155)gCc>gTc p.A385V GBMLGG 16 56442018 56442018 + Missense_Mutation SNP G G A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 g.chr16:56442018G>A c.524C>T c.(523-525)tCg>tTg p.S175L HNSC 16 56401439 56401439 + Splice_Site SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 g.chr16:56401439G>A c.1516C>T c.(1516-1518)Cgg>Tgg p.R506W HNSC 16 56419833 56419833 + Missense_Mutation SNP T T C TCGA-F7-8298-01A-11D-2394-08 TCGA-F7-8298-10A-01D-2394-08 g.chr16:56419833T>C c.1378A>G c.(1378-1380)Atg>Gtg p.M460V HNSC 16 56441904 56441904 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr16:56441904A>G c.638T>C c.(637-639)aTg>aCg p.M213T HNSC 16 56441908 56441908 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr16:56441908C>T c.634G>A c.(634-636)Gga>Aga p.G212R KIPAN 16 56401438 56401438 + Splice_Site SNP C C A TCGA-G7-7502-01A-11D-2201-08 TCGA-G7-7502-10A-01D-2201-08 g.chr16:56401438C>A c.1517G>T c.(1516-1518)cGg>cTg p.R506L KIPAN 16 56435720 56435720 + Missense_Mutation SNP T T C TCGA-B9-5156-01A-01D-1589-08 TCGA-B9-5156-10A-01D-1589-08 g.chr16:56435720T>C c.1010A>G c.(1009-1011)aAc>aGc p.N337S KIRP 16 56401438 56401438 + Splice_Site SNP C C A TCGA-G7-7502-01A-11D-2201-08 TCGA-G7-7502-10A-01D-2201-08 g.chr16:56401438C>A c.1517G>T c.(1516-1518)cGg>cTg p.R506L KIRP 16 56435720 56435720 + Missense_Mutation SNP T T C TCGA-B9-5156-01A-01D-1589-08 TCGA-B9-5156-10A-01D-1589-08 g.chr16:56435720T>C c.1010A>G c.(1009-1011)aAc>aGc p.N337S LGG 16 56396893 56396893 + Silent SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 g.chr16:56396893G>A c.1860C>T c.(1858-1860)gaC>gaT p.D620D LGG 16 56423204 56423204 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:56423204A>G c.1169T>C c.(1168-1170)gTc>gCc p.V390A LGG 16 56423219 56423219 + Missense_Mutation SNP G G A TCGA-HT-7609-01A-11D-2086-08 TCGA-HT-7609-10A-01D-2086-08 g.chr16:56423219G>A c.1154C>T c.(1153-1155)gCc>gTc p.A385V LGG 16 56442018 56442018 + Missense_Mutation SNP G G A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 g.chr16:56442018G>A c.524C>T c.(523-525)tCg>tTg p.S175L LIHC 16 56435757 56435757 + Splice_Site SNP T T A TCGA-CC-A7IK-01A-12D-A33Q-10 TCGA-CC-A7IK-10A-01D-A33Q-10 g.chr16:56435757T>A c.e8-2 LIHC 16 56441911 56441911 + Frame_Shift_Del DEL G G - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr16:56441911delG c.631delC c.(631-633)cacfs p.H211fs LIHC 16 56443342 56443342 + Silent SNP A A G TCGA-G3-A3CK-01A-11D-A20W-10 TCGA-G3-A3CK-10A-01D-A20W-10 g.chr16:56443342A>G c.507T>C c.(505-507)ttT>ttC p.F169F LUAD 16 56396849 56396849 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr16:56396849C>T c.1904G>A c.(1903-1905)cGg>cAg p.R635Q LUAD 16 56423102 56423102 + Missense_Mutation SNP A A C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr16:56423102A>C c.1271T>G c.(1270-1272)tTc>tGc p.F424C LUAD 16 56423147 56423147 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr16:56423147G>C c.1226C>G c.(1225-1227)gCc>gGc p.A409G LUAD 16 56423276 56423276 + Missense_Mutation SNP C C G TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr16:56423276C>G c.1097G>C c.(1096-1098)cGt>cCt p.R366P LUAD 16 56436943 56436943 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 g.chr16:56436943G>A c.928C>T c.(928-930)Cgt>Tgt p.R310C LUAD 16 56438863 56438863 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr16:56438863G>A c.798C>T c.(796-798)ctC>ctT p.L266L LUAD 16 56439145 56439145 + Silent SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 g.chr16:56439145C>A c.678G>T c.(676-678)gtG>gtT p.V226V LUSC 16 56403212 56403212 + Missense_Mutation SNP G G C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr16:56403212G>C c.1408C>G c.(1408-1410)Cag>Gag p.Q470E OV 16 56435670 56435670 + Missense_Mutation SNP G G C TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 g.chr16:56435670G>C c.1060C>G c.(1060-1062)Ctg>Gtg p.L354V PAAD 16 56401435 56401435 + Missense_Mutation SNP G G A TCGA-LB-A8F3-01A-11D-A36O-08 TCGA-LB-A8F3-10A-01D-A367-08 g.chr16:56401435G>A c.1520C>T c.(1519-1521)tCa>tTa p.S507L PAAD 16 56423115 56423115 + Missense_Mutation SNP G G C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 g.chr16:56423115G>C c.1258C>G c.(1258-1260)Cac>Gac p.H420D PAAD 16 56437031 56437031 + Splice_Site SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:56437031C>T c.e7-1 PRAD 16 56398015 56398015 + Silent SNP G G A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 g.chr16:56398015G>A c.1602C>T c.(1600-1602)acC>acT p.T534T READ 16 56397907 56397907 + Silent SNP G G A TCGA-AG-3586-01A-02W-0831-10 TCGA-AG-3586-10A-01W-0831-10 g.chr16:56397907G>A c.1710C>T c.(1708-1710)cgC>cgT p.R570R READ 16 56443491 56443491 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:56443491C>A c.358G>T c.(358-360)Gac>Tac p.D120Y SARC 16 56438907 56438907 + Missense_Mutation SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 g.chr16:56438907C>T c.754G>A c.(754-756)Gga>Aga p.G252R SARC 16 56438954 56438954 + Splice_Site SNP C C G TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 g.chr16:56438954C>G c.e6-1 SARC 16 56439139 56439139 + Silent SNP C C T TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 g.chr16:56439139C>T c.684G>A c.(682-684)gtG>gtA p.V228V SKCM 16 56397837 56397837 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chr16:56397837G>A c.1780C>T c.(1780-1782)Cgc>Tgc p.R594C SKCM 16 56397846 56397846 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr16:56397846G>A c.1771C>T c.(1771-1773)Cag>Tag p.Q591* SKCM 16 56401394 56401394 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr16:56401394G>A c.1561C>T c.(1561-1563)Cca>Tca p.P521S SKCM 16 56403215 56403215 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr16:56403215G>A c.1405C>T c.(1405-1407)Ccc>Tcc p.P469S SKCM 16 56423115 56423115 + Missense_Mutation SNP G G T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr16:56423115G>T c.1258C>A c.(1258-1260)Cac>Aac p.H420N SKCM 16 56423199 56423199 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr16:56423199C>T c.1174G>A c.(1174-1176)Gaa>Aaa p.E392K SKCM 16 56423200 56423200 + Silent SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr16:56423200C>T c.1173G>A c.(1171-1173)agG>agA p.R391R SKCM 16 56435650 56435650 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr16:56435650G>A c.1080C>T c.(1078-1080)ttC>ttT p.F360F SKCM 16 56436943 56436943 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr16:56436943G>A c.928C>T c.(928-930)Cgt>Tgt p.R310C SKCM 16 56448189 56448189 + Missense_Mutation SNP C C G TCGA-D9-A1JX-06A-11D-A19A-08 TCGA-D9-A1JX-10A-01D-A19A-08 g.chr16:56448189C>G c.323G>C c.(322-324)gGc>gCc p.G108A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 16 56423172 56423172 single base substitution C T intron_variant BLCA-US 16 56423172 56423172 single base substitution C T missense_variant E116K 346G>A BLCA-US 16 56423172 56423172 single base substitution C T missense_variant E401K 1201G>A BLCA-US 16 56423172 56423172 single base substitution C T upstream_gene_variant BLCA-US 16 56436917 56436917 single base substitution C T downstream_gene_variant BLCA-US 16 56436917 56436917 single base substitution C T stop_gained W38* 113G>A BLCA-US 16 56436917 56436917 single base substitution C T synonymous_variant V223V 669G>A BLCA-US 16 56436917 56436917 single base substitution C T synonymous_variant V318V 954G>A BLCA-US 16 56436917 56436917 single base substitution C T synonymous_variant V33V 99G>A BLCA-US 16 56436917 56436917 single base substitution C T upstream_gene_variant BRCA-EU 16 56390948 56390948 single base substitution T A downstream_gene_variant BRCA-EU 16 56393741 56393741 deletion of <=200bp A - downstream_gene_variant BRCA-EU 16 56394002 56394002 single base substitution C G downstream_gene_variant BRCA-EU 16 56395487 56395487 single base substitution G C 3_prime_UTR_variant BRCA-EU 16 56395487 56395487 single base substitution G C downstream_gene_variant BRCA-EU 16 56397362 56397362 single base substitution C T downstream_gene_variant BRCA-EU 16 56397362 56397362 single base substitution C T exon_variant BRCA-EU 16 56397362 56397362 single base substitution C T intron_variant BRCA-EU 16 56397656 56397656 single base substitution C T downstream_gene_variant BRCA-EU 16 56397656 56397656 single base substitution C T exon_variant BRCA-EU 16 56397656 56397656 single base substitution C T intron_variant BRCA-EU 16 56398947 56398947 single base substitution G A downstream_gene_variant BRCA-EU 16 56398947 56398947 single base substitution G A intron_variant BRCA-EU 16 56398947 56398947 single base substitution G A upstream_gene_variant BRCA-EU 16 56399009 56399009 single base substitution G C downstream_gene_variant BRCA-EU 16 56399009 56399009 single base substitution G C intron_variant BRCA-EU 16 56399009 56399009 single base substitution G C upstream_gene_variant BRCA-EU 16 56399115 56399115 single base substitution G A downstream_gene_variant BRCA-EU 16 56399115 56399115 single base substitution G A intron_variant BRCA-EU 16 56399115 56399115 single base substitution G A upstream_gene_variant BRCA-EU 16 56400016 56400016 single base substitution C T downstream_gene_variant BRCA-EU 16 56400016 56400016 single base substitution C T intron_variant BRCA-EU 16 56400016 56400016 single base substitution C T upstream_gene_variant BRCA-EU 16 56400067 56400067 single base substitution G C downstream_gene_variant BRCA-EU 16 56400067 56400067 single base substitution G C intron_variant BRCA-EU 16 56400067 56400067 single base substitution G C upstream_gene_variant BRCA-EU 16 56401006 56401006 single base substitution G A downstream_gene_variant BRCA-EU 16 56401006 56401006 single base substitution G A intron_variant BRCA-EU 16 56401006 56401006 single base substitution G A upstream_gene_variant BRCA-EU 16 56404985 56404985 single base substitution C T intron_variant BRCA-EU 16 56404985 56404985 single base substitution C T upstream_gene_variant BRCA-EU 16 56406914 56406914 insertion of <=200bp - A intron_variant BRCA-EU 16 56406970 56406970 single base substitution C G intron_variant BRCA-EU 16 56407281 56407281 single base substitution G C intron_variant BRCA-EU 16 56408080 56408080 single base substitution C G intron_variant BRCA-EU 16 56410507 56410507 single base substitution G C intron_variant BRCA-EU 16 56410806 56410806 single base substitution A G intron_variant BRCA-EU 16 56411974 56411974 single base substitution A C intron_variant BRCA-EU 16 56412333 56412333 single base substitution G C intron_variant BRCA-EU 16 56412524 56412524 single base substitution A T intron_variant BRCA-EU 16 56414497 56414497 single base substitution C T intron_variant BRCA-EU 16 56416610 56416610 single base substitution A G downstream_gene_variant BRCA-EU 16 56416610 56416610 single base substitution A G intron_variant BRCA-EU 16 56417908 56417908 single base substitution C G downstream_gene_variant BRCA-EU 16 56417908 56417908 single base substitution C G intron_variant BRCA-EU 16 56418949 56418949 single base substitution G A downstream_gene_variant BRCA-EU 16 56418949 56418949 single base substitution G A intron_variant BRCA-EU 16 56419378 56419378 single base substitution G C downstream_gene_variant BRCA-EU 16 56419378 56419378 single base substitution G C intron_variant BRCA-EU 16 56420787 56420787 single base substitution G A intron_variant BRCA-EU 16 56420787 56420787 single base substitution G A upstream_gene_variant BRCA-EU 16 56421202 56421202 single base substitution T G intron_variant BRCA-EU 16 56421202 56421202 single base substitution T G upstream_gene_variant BRCA-EU 16 56422799 56422799 single base substitution C G intron_variant BRCA-EU 16 56422799 56422799 single base substitution C G upstream_gene_variant BRCA-EU 16 56422833 56422833 deletion of <=200bp T - intron_variant BRCA-EU 16 56422833 56422833 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 56422966 56422966 single base substitution G A intron_variant BRCA-EU 16 56422966 56422966 single base substitution G A upstream_gene_variant BRCA-EU 16 56423296 56423296 single base substitution A C intron_variant BRCA-EU 16 56423296 56423296 single base substitution A C upstream_gene_variant BRCA-EU 16 56424567 56424567 deletion of <=200bp T - intron_variant BRCA-EU 16 56424567 56424567 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 56425801 56425801 single base substitution G C intron_variant BRCA-EU 16 56429839 56429839 insertion of <=200bp - A intron_variant BRCA-EU 16 56430972 56430972 single base substitution A C intron_variant BRCA-EU 16 56432298 56432298 single base substitution T A downstream_gene_variant BRCA-EU 16 56432298 56432298 single base substitution T A intron_variant BRCA-EU 16 56434644 56434644 insertion of <=200bp - G downstream_gene_variant BRCA-EU 16 56434644 56434644 insertion of <=200bp - G intron_variant BRCA-EU 16 56435033 56435033 single base substitution C A downstream_gene_variant BRCA-EU 16 56435033 56435033 single base substitution C A intron_variant BRCA-EU 16 56435452 56435452 single base substitution G A downstream_gene_variant BRCA-EU 16 56435452 56435452 single base substitution G A intron_variant BRCA-EU 16 56435471 56435471 single base substitution G T downstream_gene_variant BRCA-EU 16 56435471 56435471 single base substitution G T intron_variant BRCA-EU 16 56435647 56435647 single base substitution G C downstream_gene_variant BRCA-EU 16 56435647 56435647 single base substitution G C missense_variant H361Q 1083C>G BRCA-EU 16 56435647 56435647 single base substitution G C missense_variant H76Q 228C>G BRCA-EU 16 56435647 56435647 single base substitution G C missense_variant T81R 242C>G BRCA-EU 16 56435647 56435647 single base substitution G C splice_region_variant BRCA-EU 16 56436446 56436446 deletion of <=200bp A - downstream_gene_variant BRCA-EU 16 56436446 56436446 deletion of <=200bp A - intron_variant BRCA-EU 16 56436446 56436446 deletion of <=200bp A - upstream_gene_variant BRCA-EU 16 56436508 56436508 single base substitution G A downstream_gene_variant BRCA-EU 16 56436508 56436508 single base substitution G A intron_variant BRCA-EU 16 56436508 56436508 single base substitution G A upstream_gene_variant BRCA-EU 16 56437585 56437585 single base substitution C T downstream_gene_variant BRCA-EU 16 56437585 56437585 single base substitution C T intron_variant BRCA-EU 16 56437585 56437585 single base substitution C T upstream_gene_variant BRCA-EU 16 56437925 56437925 single base substitution C G downstream_gene_variant BRCA-EU 16 56437925 56437925 single base substitution C G intron_variant BRCA-EU 16 56437925 56437925 single base substitution C G upstream_gene_variant BRCA-EU 16 56438295 56438295 single base substitution A C downstream_gene_variant BRCA-EU 16 56438295 56438295 single base substitution A C intron_variant BRCA-EU 16 56438295 56438295 single base substitution A C upstream_gene_variant BRCA-EU 16 56438964 56438964 single base substitution G C downstream_gene_variant BRCA-EU 16 56438964 56438964 single base substitution G C intron_variant BRCA-EU 16 56438964 56438964 single base substitution G C upstream_gene_variant BRCA-EU 16 56440523 56440523 insertion of <=200bp - TAGAA downstream_gene_variant BRCA-EU 16 56440523 56440523 insertion of <=200bp - TAGAA intron_variant BRCA-EU 16 56440523 56440523 insertion of <=200bp - TAGAA upstream_gene_variant BRCA-EU 16 56440670 56440670 single base substitution G A downstream_gene_variant BRCA-EU 16 56440670 56440670 single base substitution G A intron_variant BRCA-EU 16 56440670 56440670 single base substitution G A upstream_gene_variant BRCA-EU 16 56442886 56442886 single base substitution C T intron_variant BRCA-EU 16 56444071 56444071 single base substitution G A downstream_gene_variant BRCA-EU 16 56444071 56444071 single base substitution G A intron_variant BRCA-EU 16 56450196 56450196 single base substitution G T intron_variant BRCA-EU 16 56450525 56450525 single base substitution G A intron_variant BRCA-EU 16 56451187 56451187 single base substitution T C intron_variant BRCA-EU 16 56452424 56452424 single base substitution A C intron_variant BRCA-EU 16 56452934 56452934 single base substitution T C intron_variant BRCA-EU 16 56454640 56454640 single base substitution T G intron_variant BRCA-EU 16 56454688 56454688 single base substitution C T intron_variant BRCA-EU 16 56454880 56454880 single base substitution T C intron_variant BRCA-EU 16 56455193 56455193 single base substitution C T intron_variant BRCA-EU 16 56455735 56455735 single base substitution G A intron_variant BRCA-EU 16 56455910 56455910 single base substitution A G intron_variant BRCA-EU 16 56456936 56456936 single base substitution T A intron_variant BRCA-EU 16 56457390 56457390 single base substitution T C intron_variant BRCA-EU 16 56459051 56459051 single base substitution C T synonymous_variant P63P 189G>A BRCA-EU 16 56459051 56459051 single base substitution C T upstream_gene_variant BRCA-EU 16 56462517 56462517 single base substitution G A upstream_gene_variant BRCA-EU 16 56462664 56462664 deletion of <=200bp A - upstream_gene_variant BRCA-EU 16 56462901 56462901 single base substitution C G upstream_gene_variant BRCA-FR 16 56399009 56399009 single base substitution G C downstream_gene_variant BRCA-FR 16 56399009 56399009 single base substitution G C intron_variant BRCA-FR 16 56399009 56399009 single base substitution G C upstream_gene_variant BRCA-FR 16 56399115 56399115 single base substitution G A downstream_gene_variant BRCA-FR 16 56399115 56399115 single base substitution G A intron_variant BRCA-FR 16 56399115 56399115 single base substitution G A upstream_gene_variant BRCA-FR 16 56422799 56422799 single base substitution C G intron_variant BRCA-FR 16 56422799 56422799 single base substitution C G upstream_gene_variant BRCA-FR 16 56443056 56443056 single base substitution C T intron_variant BRCA-FR 16 56450196 56450196 single base substitution G T intron_variant BRCA-FR 16 56450525 56450525 single base substitution G A intron_variant BRCA-FR 16 56453195 56453195 single base substitution A C intron_variant BRCA-FR 16 56455193 56455193 single base substitution C T intron_variant BRCA-UK 16 56418949 56418949 single base substitution G A downstream_gene_variant BRCA-UK 16 56418949 56418949 single base substitution G A intron_variant BRCA-US 16 56395610 56395610 single base substitution G A 3_prime_UTR_variant BRCA-US 16 56395610 56395610 single base substitution G A downstream_gene_variant BTCA-JP 16 56396603 56396603 single base substitution A C 3_prime_UTR_variant BTCA-JP 16 56396603 56396603 single base substitution A C downstream_gene_variant BTCA-JP 16 56396603 56396603 single base substitution A C exon_variant BTCA-JP 16 56396879 56396879 single base substitution C T downstream_gene_variant BTCA-JP 16 56396879 56396879 single base substitution C T exon_variant BTCA-JP 16 56396879 56396879 single base substitution C T missense_variant R281H 842G>A BTCA-JP 16 56396879 56396879 single base substitution C T missense_variant R625H 1874G>A BTCA-JP 16 56435675 56435675 single base substitution C T downstream_gene_variant BTCA-JP 16 56435675 56435675 single base substitution C T exon_variant BTCA-JP 16 56435675 56435675 single base substitution C T missense_variant G72R 214G>A BTCA-JP 16 56435675 56435675 single base substitution C T missense_variant R352Q 1055G>A BTCA-JP 16 56435675 56435675 single base substitution C T missense_variant R67Q 200G>A BTCA-JP 16 56436804 56436804 single base substitution T G downstream_gene_variant BTCA-JP 16 56436804 56436804 single base substitution T G intron_variant BTCA-JP 16 56436804 56436804 single base substitution T G upstream_gene_variant CESC-US 16 56396402 56396402 single base substitution G A 3_prime_UTR_variant CESC-US 16 56396402 56396402 single base substitution G A downstream_gene_variant CESC-US 16 56396402 56396402 single base substitution G A exon_variant CESC-US 16 56396745 56396745 single base substitution G A 3_prime_UTR_variant CESC-US 16 56396745 56396745 single base substitution G A downstream_gene_variant CESC-US 16 56396745 56396745 single base substitution G A exon_variant CESC-US 16 56396850 56396850 single base substitution G A downstream_gene_variant CESC-US 16 56396850 56396850 single base substitution G A exon_variant CESC-US 16 56396850 56396850 single base substitution G A missense_variant R291W 871C>T CESC-US 16 56396850 56396850 single base substitution G A missense_variant R635W 1903C>T CLLE-ES 16 56391357 56391359 deletion of <=200bp CTC - downstream_gene_variant CLLE-ES 16 56392907 56392907 single base substitution A T downstream_gene_variant COAD-US 16 56397878 56397878 single base substitution C T downstream_gene_variant COAD-US 16 56397878 56397878 single base substitution C T exon_variant COAD-US 16 56397878 56397878 single base substitution C T missense_variant R236H 707G>A COAD-US 16 56397878 56397878 single base substitution C T missense_variant R580H 1739G>A COAD-US 16 56397878 56397878 single base substitution C T upstream_gene_variant COAD-US 16 56448186 56448186 single base substitution G C downstream_gene_variant COAD-US 16 56448186 56448186 single base substitution G C exon_variant COAD-US 16 56448186 56448186 single base substitution G C missense_variant P109R 326C>G COAD-US 16 56448186 56448186 single base substitution G C missense_variant P14R 41C>G COCA-CN 16 56396889 56396889 single base substitution C T downstream_gene_variant COCA-CN 16 56396889 56396889 single base substitution C T exon_variant COCA-CN 16 56396889 56396889 single base substitution C T missense_variant V278M 832G>A COCA-CN 16 56396889 56396889 single base substitution C T missense_variant V622M 1864G>A COCA-CN 16 56397826 56397826 single base substitution G A downstream_gene_variant COCA-CN 16 56397826 56397826 single base substitution G A intron_variant COCA-CN 16 56397826 56397826 single base substitution G A splice_region_variant COCA-CN 16 56397826 56397826 single base substitution G A upstream_gene_variant COCA-CN 16 56398026 56398026 single base substitution G A downstream_gene_variant COCA-CN 16 56398026 56398026 single base substitution G A exon_variant COCA-CN 16 56398026 56398026 single base substitution G A intron_variant COCA-CN 16 56398026 56398026 single base substitution G A upstream_gene_variant COCA-CN 16 56401370 56401370 single base substitution C A exon_variant COCA-CN 16 56401370 56401370 single base substitution C A stop_gained E185* 553G>T COCA-CN 16 56401370 56401370 single base substitution C A stop_gained E276* 826G>T COCA-CN 16 56401370 56401370 single base substitution C A stop_gained E529* 1585G>T COCA-CN 16 56401370 56401370 single base substitution C A upstream_gene_variant COCA-CN 16 56437071 56437071 single base substitution G A downstream_gene_variant COCA-CN 16 56437071 56437071 single base substitution G A intron_variant COCA-CN 16 56437071 56437071 single base substitution G A upstream_gene_variant COCA-CN 16 56442066 56442066 single base substitution C T exon_variant COCA-CN 16 56442066 56442066 single base substitution C T intron_variant COCA-CN 16 56448373 56448373 single base substitution C A intron_variant ESAD-UK 16 56396140 56396140 single base substitution A C 3_prime_UTR_variant ESAD-UK 16 56396140 56396140 single base substitution A C downstream_gene_variant ESAD-UK 16 56396140 56396140 single base substitution A C exon_variant ESAD-UK 16 56396494 56396494 single base substitution G A 3_prime_UTR_variant ESAD-UK 16 56396494 56396494 single base substitution G A downstream_gene_variant ESAD-UK 16 56396494 56396494 single base substitution G A exon_variant ESAD-UK 16 56396903 56396903 single base substitution G A downstream_gene_variant ESAD-UK 16 56396903 56396903 single base substitution G A exon_variant ESAD-UK 16 56396903 56396903 single base substitution G A missense_variant A273V 818C>T ESAD-UK 16 56396903 56396903 single base substitution G A missense_variant A617V 1850C>T ESAD-UK 16 56397158 56397158 single base substitution C A downstream_gene_variant ESAD-UK 16 56397158 56397158 single base substitution C A exon_variant ESAD-UK 16 56397158 56397158 single base substitution C A intron_variant ESAD-UK 16 56399421 56399421 single base substitution C T downstream_gene_variant ESAD-UK 16 56399421 56399421 single base substitution C T intron_variant ESAD-UK 16 56399421 56399421 single base substitution C T upstream_gene_variant ESAD-UK 16 56399468 56399468 insertion of <=200bp - AG downstream_gene_variant ESAD-UK 16 56399468 56399468 insertion of <=200bp - AG intron_variant ESAD-UK 16 56399468 56399468 insertion of <=200bp - AG upstream_gene_variant ESAD-UK 16 56400017 56400017 single base substitution G A downstream_gene_variant ESAD-UK 16 56400017 56400017 single base substitution G A intron_variant ESAD-UK 16 56400017 56400017 single base substitution G A upstream_gene_variant ESAD-UK 16 56401140 56401140 single base substitution C T downstream_gene_variant ESAD-UK 16 56401140 56401140 single base substitution C T intron_variant ESAD-UK 16 56401140 56401140 single base substitution C T upstream_gene_variant ESAD-UK 16 56406922 56406922 single base substitution C A intron_variant ESAD-UK 16 56407717 56407717 single base substitution G A intron_variant ESAD-UK 16 56409036 56409036 single base substitution A C intron_variant ESAD-UK 16 56409860 56409860 single base substitution C G intron_variant ESAD-UK 16 56419534 56419534 single base substitution T A downstream_gene_variant ESAD-UK 16 56419534 56419534 single base substitution T A intron_variant ESAD-UK 16 56421830 56421830 single base substitution G C intron_variant ESAD-UK 16 56421830 56421830 single base substitution G C upstream_gene_variant ESAD-UK 16 56422273 56422273 single base substitution G A intron_variant ESAD-UK 16 56422273 56422273 single base substitution G A upstream_gene_variant ESAD-UK 16 56422810 56422810 single base substitution G C intron_variant ESAD-UK 16 56422810 56422810 single base substitution G C upstream_gene_variant ESAD-UK 16 56422872 56422872 single base substitution G A intron_variant ESAD-UK 16 56422872 56422872 single base substitution G A upstream_gene_variant ESAD-UK 16 56422924 56422924 single base substitution A T intron_variant ESAD-UK 16 56422924 56422924 single base substitution A T upstream_gene_variant ESAD-UK 16 56423145 56423145 single base substitution C T intron_variant ESAD-UK 16 56423145 56423145 single base substitution C T missense_variant E125K 373G>A ESAD-UK 16 56423145 56423145 single base substitution C T missense_variant E410K 1228G>A ESAD-UK 16 56423145 56423145 single base substitution C T upstream_gene_variant ESAD-UK 16 56423330 56423330 single base substitution G A intron_variant ESAD-UK 16 56423330 56423330 single base substitution G A upstream_gene_variant ESAD-UK 16 56423345 56423345 single base substitution T C intron_variant ESAD-UK 16 56423345 56423345 single base substitution T C upstream_gene_variant ESAD-UK 16 56431133 56431133 single base substitution T C intron_variant ESAD-UK 16 56433384 56433384 single base substitution C T downstream_gene_variant ESAD-UK 16 56433384 56433384 single base substitution C T intron_variant ESAD-UK 16 56434776 56434776 single base substitution G A downstream_gene_variant ESAD-UK 16 56434776 56434776 single base substitution G A intron_variant ESAD-UK 16 56440721 56440721 single base substitution C T downstream_gene_variant ESAD-UK 16 56440721 56440721 single base substitution C T intron_variant ESAD-UK 16 56440721 56440721 single base substitution C T upstream_gene_variant ESAD-UK 16 56447737 56447737 single base substitution A C downstream_gene_variant ESAD-UK 16 56447737 56447737 single base substitution A C intron_variant ESAD-UK 16 56451063 56451063 single base substitution T A intron_variant ESAD-UK 16 56454560 56454560 single base substitution C T intron_variant ESAD-UK 16 56457119 56457119 single base substitution T C intron_variant ESAD-UK 16 56457841 56457841 single base substitution A C exon_variant ESAD-UK 16 56457841 56457841 single base substitution A C intron_variant ESAD-UK 16 56459133 56459133 single base substitution A C missense_variant L36R 107T>G ESAD-UK 16 56459133 56459133 single base substitution A C upstream_gene_variant ESAD-UK 16 56460056 56460056 single base substitution T G upstream_gene_variant ESAD-UK 16 56462649 56462649 single base substitution C T upstream_gene_variant ESCA-CN 16 56401263 56401263 single base substitution T C exon_variant ESCA-CN 16 56401263 56401263 single base substitution T C intron_variant ESCA-CN 16 56401263 56401263 single base substitution T C upstream_gene_variant ESCA-CN 16 56436824 56436824 single base substitution A G downstream_gene_variant ESCA-CN 16 56436824 56436824 single base substitution A G intron_variant ESCA-CN 16 56436824 56436824 single base substitution A G upstream_gene_variant ESCA-CN 16 56442066 56442066 single base substitution C T exon_variant ESCA-CN 16 56442066 56442066 single base substitution C T intron_variant KIRP-US 16 56396896 56396896 single base substitution A G downstream_gene_variant KIRP-US 16 56396896 56396896 single base substitution A G exon_variant KIRP-US 16 56396896 56396896 single base substitution A G synonymous_variant S275S 825T>C KIRP-US 16 56396896 56396896 single base substitution A G synonymous_variant S619S 1857T>C KIRP-US 16 56401438 56401438 single base substitution C A exon_variant KIRP-US 16 56401438 56401438 single base substitution C A missense_variant R162L 485G>T KIRP-US 16 56401438 56401438 single base substitution C A missense_variant R253L 758G>T KIRP-US 16 56401438 56401438 single base substitution C A missense_variant R506L 1517G>T KIRP-US 16 56401438 56401438 single base substitution C A splice_region_variant KIRP-US 16 56401438 56401438 single base substitution C A upstream_gene_variant KIRP-US 16 56435720 56435720 single base substitution T C downstream_gene_variant KIRP-US 16 56435720 56435720 single base substitution T C missense_variant N337S 1010A>G KIRP-US 16 56435720 56435720 single base substitution T C missense_variant N52S 155A>G KIRP-US 16 56435720 56435720 single base substitution T C missense_variant T57A 169A>G KIRP-US 16 56435720 56435720 single base substitution T C upstream_gene_variant LAML-KR 16 56428975 56428975 single base substitution A G intron_variant LGG-US 16 56396893 56396893 single base substitution G A downstream_gene_variant LGG-US 16 56396893 56396893 single base substitution G A exon_variant LGG-US 16 56396893 56396893 single base substitution G A synonymous_variant D276D 828C>T LGG-US 16 56396893 56396893 single base substitution G A synonymous_variant D620D 1860C>T LGG-US 16 56442018 56442018 single base substitution G A exon_variant LGG-US 16 56442018 56442018 single base substitution G A missense_variant S175L 524C>T LGG-US 16 56442018 56442018 single base substitution G A missense_variant S80L 239C>T LGG-US 16 56442018 56442018 single base substitution G A upstream_gene_variant LICA-CN 16 56443422 56443422 single base substitution C T downstream_gene_variant LICA-CN 16 56443422 56443422 single base substitution C T exon_variant LICA-CN 16 56443422 56443422 single base substitution C T missense_variant E143K 427G>A LICA-CN 16 56443422 56443422 single base substitution C T missense_variant E48K 142G>A LICA-FR 16 56412875 56412875 single base substitution A T intron_variant LICA-FR 16 56426168 56426168 single base substitution G T intron_variant LICA-FR 16 56426180 56426180 single base substitution C A intron_variant LICA-FR 16 56426356 56426356 single base substitution G A intron_variant LICA-FR 16 56426390 56426390 single base substitution C T intron_variant LICA-FR 16 56426395 56426395 single base substitution G T intron_variant LICA-FR 16 56434929 56434935 deletion of <=200bp GAGACTA - downstream_gene_variant LICA-FR 16 56434929 56434935 deletion of <=200bp GAGACTA - intron_variant LICA-FR 16 56441908 56441908 single base substitution C G downstream_gene_variant LICA-FR 16 56441908 56441908 single base substitution C G missense_variant G117R 349G>C LICA-FR 16 56441908 56441908 single base substitution C G missense_variant G212R 634G>C LICA-FR 16 56441908 56441908 single base substitution C G upstream_gene_variant LICA-FR 16 56442254 56442254 single base substitution T C intron_variant LICA-FR 16 56445148 56445148 deletion of <=200bp T - downstream_gene_variant LICA-FR 16 56445148 56445148 deletion of <=200bp T - intron_variant LICA-FR 16 56450888 56450888 single base substitution G T intron_variant LIHC-US 16 56396835 56396835 single base substitution G A downstream_gene_variant LIHC-US 16 56396835 56396835 single base substitution G A exon_variant LIHC-US 16 56396835 56396835 single base substitution G A stop_gained Q296* 886C>T LIHC-US 16 56396835 56396835 single base substitution G A stop_gained Q640* 1918C>T LIHC-US 16 56435757 56435757 single base substitution T A downstream_gene_variant LIHC-US 16 56435757 56435757 single base substitution T A splice_acceptor_variant LIHC-US 16 56435757 56435757 single base substitution T A upstream_gene_variant LIHC-US 16 56443342 56443342 single base substitution A G downstream_gene_variant LIHC-US 16 56443342 56443342 single base substitution A G exon_variant LIHC-US 16 56443342 56443342 single base substitution A G synonymous_variant F169F 507T>C LIHC-US 16 56443342 56443342 single base substitution A G synonymous_variant F74F 222T>C LINC-JP 16 56397738 56397738 single base substitution G A downstream_gene_variant LINC-JP 16 56397738 56397738 single base substitution G A exon_variant LINC-JP 16 56397738 56397738 single base substitution G A intron_variant LINC-JP 16 56403083 56403083 single base substitution T C intron_variant LINC-JP 16 56403083 56403083 single base substitution T C upstream_gene_variant LINC-JP 16 56403201 56403201 single base substitution G T exon_variant LINC-JP 16 56403201 56403201 single base substitution G T stop_gained Y129* 387C>A LINC-JP 16 56403201 56403201 single base substitution G T stop_gained Y220* 660C>A LINC-JP 16 56403201 56403201 single base substitution G T stop_gained Y473* 1419C>A LINC-JP 16 56403201 56403201 single base substitution G T upstream_gene_variant LINC-JP 16 56413224 56413224 single base substitution A C intron_variant LINC-JP 16 56414831 56414831 single base substitution C A downstream_gene_variant LINC-JP 16 56414831 56414831 single base substitution C A intron_variant LINC-JP 16 56416935 56416935 single base substitution C T downstream_gene_variant LINC-JP 16 56416935 56416935 single base substitution C T intron_variant LINC-JP 16 56432175 56432175 single base substitution G A downstream_gene_variant LINC-JP 16 56432175 56432175 single base substitution G A intron_variant LINC-JP 16 56433005 56433005 single base substitution A C downstream_gene_variant LINC-JP 16 56433005 56433005 single base substitution A C intron_variant LINC-JP 16 56433006 56433006 single base substitution C A downstream_gene_variant LINC-JP 16 56433006 56433006 single base substitution C A intron_variant LINC-JP 16 56435362 56435362 single base substitution T C downstream_gene_variant LINC-JP 16 56435362 56435362 single base substitution T C intron_variant LINC-JP 16 56436927 56436927 single base substitution T C downstream_gene_variant LINC-JP 16 56436927 56436927 single base substitution T C missense_variant I35V 103A>G LINC-JP 16 56436927 56436927 single base substitution T C missense_variant Y220C 659A>G LINC-JP 16 56436927 56436927 single base substitution T C missense_variant Y30C 89A>G LINC-JP 16 56436927 56436927 single base substitution T C missense_variant Y315C 944A>G LINC-JP 16 56436927 56436927 single base substitution T C upstream_gene_variant LINC-JP 16 56459360 56459360 single base substitution C T 5_prime_UTR_variant LINC-JP 16 56459360 56459360 single base substitution C T upstream_gene_variant LINC-JP 16 56459757 56459757 insertion of <=200bp - C upstream_gene_variant LINC-JP 16 56459875 56459875 single base substitution T C upstream_gene_variant LINC-JP 16 56460836 56460836 single base substitution T C upstream_gene_variant LIRI-JP 16 56398404 56398404 single base substitution A G downstream_gene_variant LIRI-JP 16 56398404 56398404 single base substitution A G intron_variant LIRI-JP 16 56398404 56398404 single base substitution A G upstream_gene_variant LIRI-JP 16 56399420 56399420 single base substitution C T downstream_gene_variant LIRI-JP 16 56399420 56399420 single base substitution C T intron_variant LIRI-JP 16 56399420 56399420 single base substitution C T upstream_gene_variant LIRI-JP 16 56401091 56401091 single base substitution T A downstream_gene_variant LIRI-JP 16 56401091 56401091 single base substitution T A intron_variant LIRI-JP 16 56401091 56401091 single base substitution T A upstream_gene_variant LIRI-JP 16 56402307 56402307 single base substitution C T intron_variant LIRI-JP 16 56402307 56402307 single base substitution C T upstream_gene_variant LIRI-JP 16 56402902 56402902 single base substitution A G intron_variant LIRI-JP 16 56402902 56402902 single base substitution A G upstream_gene_variant LIRI-JP 16 56403715 56403715 single base substitution C A intron_variant LIRI-JP 16 56403715 56403715 single base substitution C A upstream_gene_variant LIRI-JP 16 56407047 56407047 single base substitution G C intron_variant LIRI-JP 16 56408645 56408645 single base substitution T C intron_variant LIRI-JP 16 56413682 56413682 single base substitution G A intron_variant LIRI-JP 16 56414832 56414832 single base substitution C T downstream_gene_variant LIRI-JP 16 56414832 56414832 single base substitution C T intron_variant LIRI-JP 16 56415658 56415658 single base substitution G C downstream_gene_variant LIRI-JP 16 56415658 56415658 single base substitution G C intron_variant LIRI-JP 16 56416409 56416409 single base substitution T C downstream_gene_variant LIRI-JP 16 56416409 56416409 single base substitution T C intron_variant LIRI-JP 16 56417246 56417246 single base substitution G C downstream_gene_variant LIRI-JP 16 56417246 56417246 single base substitution G C intron_variant LIRI-JP 16 56417908 56417908 single base substitution C A downstream_gene_variant LIRI-JP 16 56417908 56417908 single base substitution C A intron_variant LIRI-JP 16 56419177 56419177 single base substitution C T downstream_gene_variant LIRI-JP 16 56419177 56419177 single base substitution C T intron_variant LIRI-JP 16 56419909 56419909 single base substitution C A exon_variant LIRI-JP 16 56419909 56419909 single base substitution C A synonymous_variant P181P 543G>T LIRI-JP 16 56419909 56419909 single base substitution C A synonymous_variant P434P 1302G>T LIRI-JP 16 56419909 56419909 single base substitution C A synonymous_variant P90P 270G>T LIRI-JP 16 56419909 56419909 single base substitution C A upstream_gene_variant LIRI-JP 16 56420629 56420629 single base substitution G T intron_variant LIRI-JP 16 56420629 56420629 single base substitution G T upstream_gene_variant LIRI-JP 16 56420761 56420761 single base substitution A G intron_variant LIRI-JP 16 56420761 56420761 single base substitution A G upstream_gene_variant LIRI-JP 16 56420848 56420848 single base substitution A C intron_variant LIRI-JP 16 56420848 56420848 single base substitution A C upstream_gene_variant LIRI-JP 16 56421438 56421438 single base substitution T C intron_variant LIRI-JP 16 56421438 56421438 single base substitution T C upstream_gene_variant LIRI-JP 16 56424213 56424213 single base substitution C T intron_variant LIRI-JP 16 56424213 56424213 single base substitution C T upstream_gene_variant LIRI-JP 16 56424731 56424731 single base substitution C T intron_variant LIRI-JP 16 56424731 56424731 single base substitution C T upstream_gene_variant LIRI-JP 16 56427261 56427261 single base substitution T C intron_variant LIRI-JP 16 56430058 56430058 single base substitution T C intron_variant LIRI-JP 16 56439633 56439633 single base substitution A C downstream_gene_variant LIRI-JP 16 56439633 56439633 single base substitution A C intron_variant LIRI-JP 16 56439633 56439633 single base substitution A C upstream_gene_variant LIRI-JP 16 56443838 56443838 single base substitution T C downstream_gene_variant LIRI-JP 16 56443838 56443838 single base substitution T C intron_variant LIRI-JP 16 56449176 56449176 single base substitution C A intron_variant LIRI-JP 16 56449702 56449702 single base substitution T C intron_variant LIRI-JP 16 56451515 56451515 single base substitution T C intron_variant LIRI-JP 16 56451944 56451944 single base substitution G T intron_variant LIRI-JP 16 56452117 56452117 single base substitution A G intron_variant LIRI-JP 16 56454929 56454929 single base substitution A G intron_variant LIRI-JP 16 56456342 56456342 single base substitution C A intron_variant LIRI-JP 16 56460006 56460006 single base substitution T C upstream_gene_variant LIRI-JP 16 56460809 56460809 single base substitution T C upstream_gene_variant LIRI-JP 16 56461675 56461675 single base substitution C A upstream_gene_variant LIRI-JP 16 56463301 56463301 deletion of <=200bp T - upstream_gene_variant LIRI-JP 16 56464377 56464377 single base substitution T C upstream_gene_variant LUSC-KR 16 56392415 56392415 single base substitution C A downstream_gene_variant LUSC-KR 16 56395610 56395610 single base substitution G A 3_prime_UTR_variant LUSC-KR 16 56395610 56395610 single base substitution G A downstream_gene_variant LUSC-KR 16 56396486 56396486 single base substitution C T 3_prime_UTR_variant LUSC-KR 16 56396486 56396486 single base substitution C T downstream_gene_variant LUSC-KR 16 56396486 56396486 single base substitution C T exon_variant LUSC-KR 16 56401294 56401294 single base substitution T C exon_variant LUSC-KR 16 56401294 56401294 single base substitution T C intron_variant LUSC-KR 16 56401294 56401294 single base substitution T C upstream_gene_variant LUSC-KR 16 56401538 56401538 single base substitution A G intron_variant LUSC-KR 16 56401538 56401538 single base substitution A G upstream_gene_variant LUSC-KR 16 56401797 56401797 single base substitution C A intron_variant LUSC-KR 16 56401797 56401797 single base substitution C A upstream_gene_variant LUSC-KR 16 56410869 56410869 single base substitution T C intron_variant LUSC-KR 16 56411337 56411337 single base substitution C A intron_variant LUSC-KR 16 56411411 56411411 single base substitution A G intron_variant LUSC-KR 16 56424306 56424306 single base substitution T A intron_variant LUSC-KR 16 56424306 56424306 single base substitution T A upstream_gene_variant LUSC-KR 16 56428059 56428059 single base substitution T A intron_variant LUSC-KR 16 56428975 56428975 single base substitution A G intron_variant LUSC-KR 16 56430666 56430666 single base substitution G C intron_variant LUSC-KR 16 56432474 56432474 single base substitution C A downstream_gene_variant LUSC-KR 16 56432474 56432474 single base substitution C A intron_variant LUSC-KR 16 56436824 56436824 single base substitution A G downstream_gene_variant LUSC-KR 16 56436824 56436824 single base substitution A G intron_variant LUSC-KR 16 56436824 56436824 single base substitution A G upstream_gene_variant LUSC-KR 16 56437899 56437899 single base substitution A C downstream_gene_variant LUSC-KR 16 56437899 56437899 single base substitution A C intron_variant LUSC-KR 16 56437899 56437899 single base substitution A C upstream_gene_variant LUSC-KR 16 56440032 56440032 single base substitution G A downstream_gene_variant LUSC-KR 16 56440032 56440032 single base substitution G A intron_variant LUSC-KR 16 56440032 56440032 single base substitution G A upstream_gene_variant LUSC-KR 16 56441862 56441862 single base substitution A G downstream_gene_variant LUSC-KR 16 56441862 56441862 single base substitution A G intron_variant LUSC-KR 16 56441862 56441862 single base substitution A G upstream_gene_variant LUSC-KR 16 56442066 56442066 single base substitution C T exon_variant LUSC-KR 16 56442066 56442066 single base substitution C T intron_variant LUSC-KR 16 56443754 56443754 single base substitution A G downstream_gene_variant LUSC-KR 16 56443754 56443754 single base substitution A G intron_variant LUSC-KR 16 56445227 56445227 single base substitution C A downstream_gene_variant LUSC-KR 16 56445227 56445227 single base substitution C A intron_variant LUSC-KR 16 56456079 56456079 single base substitution C G intron_variant LUSC-US 16 56403212 56403212 single base substitution G C exon_variant LUSC-US 16 56403212 56403212 single base substitution G C missense_variant Q126E 376C>G LUSC-US 16 56403212 56403212 single base substitution G C missense_variant Q217E 649C>G LUSC-US 16 56403212 56403212 single base substitution G C missense_variant Q470E 1408C>G LUSC-US 16 56403212 56403212 single base substitution G C upstream_gene_variant MALY-DE 16 56395124 56395124 insertion of <=200bp - A downstream_gene_variant MALY-DE 16 56406815 56406815 single base substitution T A intron_variant MALY-DE 16 56410436 56410436 single base substitution G A intron_variant MALY-DE 16 56416362 56416364 deletion of <=200bp GAA - downstream_gene_variant MALY-DE 16 56416362 56416364 deletion of <=200bp GAA - intron_variant MALY-DE 16 56421323 56421323 single base substitution C G intron_variant MALY-DE 16 56421323 56421323 single base substitution C G upstream_gene_variant MALY-DE 16 56422284 56422284 single base substitution G A intron_variant MALY-DE 16 56422284 56422284 single base substitution G A upstream_gene_variant MALY-DE 16 56427135 56427135 single base substitution G A intron_variant MALY-DE 16 56432231 56432232 deletion of <=200bp TA - downstream_gene_variant MALY-DE 16 56432231 56432232 deletion of <=200bp TA - intron_variant MALY-DE 16 56442481 56442481 single base substitution A G intron_variant MALY-DE 16 56444162 56444162 single base substitution T C downstream_gene_variant MALY-DE 16 56444162 56444162 single base substitution T C intron_variant MELA-AU 16 56390671 56390671 single base substitution G A downstream_gene_variant MELA-AU 16 56390684 56390684 single base substitution C T downstream_gene_variant MELA-AU 16 56390947 56390947 single base substitution A C downstream_gene_variant MELA-AU 16 56391610 56391610 single base substitution C T downstream_gene_variant MELA-AU 16 56392330 56392330 single base substitution G A downstream_gene_variant MELA-AU 16 56392722 56392722 single base substitution G A downstream_gene_variant MELA-AU 16 56392960 56392961 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 56394386 56394386 single base substitution G A downstream_gene_variant MELA-AU 16 56394433 56394433 single base substitution C T downstream_gene_variant MELA-AU 16 56395223 56395223 single base substitution G A downstream_gene_variant MELA-AU 16 56395869 56395869 single base substitution G A 3_prime_UTR_variant MELA-AU 16 56395869 56395869 single base substitution G A downstream_gene_variant MELA-AU 16 56395888 56395888 single base substitution G A 3_prime_UTR_variant MELA-AU 16 56395888 56395888 single base substitution G A downstream_gene_variant MELA-AU 16 56396168 56396168 single base substitution G A 3_prime_UTR_variant MELA-AU 16 56396168 56396168 single base substitution G A downstream_gene_variant MELA-AU 16 56396168 56396168 single base substitution G A exon_variant MELA-AU 16 56396680 56396680 single base substitution C T 3_prime_UTR_variant MELA-AU 16 56396680 56396680 single base substitution C T downstream_gene_variant MELA-AU 16 56396680 56396680 single base substitution C T exon_variant MELA-AU 16 56396740 56396740 single base substitution G A 3_prime_UTR_variant MELA-AU 16 56396740 56396740 single base substitution G A downstream_gene_variant MELA-AU 16 56396740 56396740 single base substitution G A exon_variant MELA-AU 16 56396746 56396746 single base substitution G A 3_prime_UTR_variant MELA-AU 16 56396746 56396746 single base substitution G A downstream_gene_variant MELA-AU 16 56396746 56396746 single base substitution G A exon_variant MELA-AU 16 56397517 56397517 single base substitution C T downstream_gene_variant MELA-AU 16 56397517 56397517 single base substitution C T exon_variant MELA-AU 16 56397517 56397517 single base substitution C T intron_variant MELA-AU 16 56397756 56397756 single base substitution G A downstream_gene_variant MELA-AU 16 56397756 56397756 single base substitution G A exon_variant MELA-AU 16 56397756 56397756 single base substitution G A intron_variant MELA-AU 16 56397837 56397837 single base substitution G A downstream_gene_variant MELA-AU 16 56397837 56397837 single base substitution G A exon_variant MELA-AU 16 56397837 56397837 single base substitution G A missense_variant R250C 748C>T MELA-AU 16 56397837 56397837 single base substitution G A missense_variant R594C 1780C>T MELA-AU 16 56397837 56397837 single base substitution G A upstream_gene_variant MELA-AU 16 56399407 56399407 single base substitution G A downstream_gene_variant MELA-AU 16 56399407 56399407 single base substitution G A intron_variant MELA-AU 16 56399407 56399407 single base substitution G A upstream_gene_variant MELA-AU 16 56399471 56399471 single base substitution G C downstream_gene_variant MELA-AU 16 56399471 56399471 single base substitution G C intron_variant MELA-AU 16 56399471 56399471 single base substitution G C upstream_gene_variant MELA-AU 16 56399602 56399602 single base substitution G T downstream_gene_variant MELA-AU 16 56399602 56399602 single base substitution G T intron_variant MELA-AU 16 56399602 56399602 single base substitution G T upstream_gene_variant MELA-AU 16 56399712 56399712 single base substitution G A downstream_gene_variant MELA-AU 16 56399712 56399712 single base substitution G A intron_variant MELA-AU 16 56399712 56399712 single base substitution G A upstream_gene_variant MELA-AU 16 56399777 56399777 single base substitution G A downstream_gene_variant MELA-AU 16 56399777 56399777 single base substitution G A intron_variant MELA-AU 16 56399777 56399777 single base substitution G A upstream_gene_variant MELA-AU 16 56399831 56399831 single base substitution G A downstream_gene_variant MELA-AU 16 56399831 56399831 single base substitution G A intron_variant MELA-AU 16 56399831 56399831 single base substitution G A upstream_gene_variant MELA-AU 16 56400427 56400427 single base substitution G A downstream_gene_variant MELA-AU 16 56400427 56400427 single base substitution G A intron_variant MELA-AU 16 56400427 56400427 single base substitution G A upstream_gene_variant MELA-AU 16 56400681 56400681 single base substitution G A downstream_gene_variant MELA-AU 16 56400681 56400681 single base substitution G A intron_variant MELA-AU 16 56400681 56400681 single base substitution G A upstream_gene_variant MELA-AU 16 56400694 56400694 single base substitution G A downstream_gene_variant MELA-AU 16 56400694 56400694 single base substitution G A intron_variant MELA-AU 16 56400694 56400694 single base substitution G A upstream_gene_variant MELA-AU 16 56400841 56400841 single base substitution G A downstream_gene_variant MELA-AU 16 56400841 56400841 single base substitution G A intron_variant MELA-AU 16 56400841 56400841 single base substitution G A upstream_gene_variant MELA-AU 16 56400966 56400966 single base substitution C T downstream_gene_variant MELA-AU 16 56400966 56400966 single base substitution C T intron_variant MELA-AU 16 56400966 56400966 single base substitution C T upstream_gene_variant MELA-AU 16 56401347 56401347 single base substitution G A exon_variant MELA-AU 16 56401347 56401347 single base substitution G A intron_variant MELA-AU 16 56401347 56401347 single base substitution G A upstream_gene_variant MELA-AU 16 56401394 56401394 single base substitution G A exon_variant MELA-AU 16 56401394 56401394 single base substitution G A missense_variant P177S 529C>T MELA-AU 16 56401394 56401394 single base substitution G A missense_variant P268S 802C>T MELA-AU 16 56401394 56401394 single base substitution G A missense_variant P521S 1561C>T MELA-AU 16 56401394 56401394 single base substitution G A upstream_gene_variant MELA-AU 16 56403113 56403113 single base substitution G A exon_variant MELA-AU 16 56403113 56403113 single base substitution G A missense_variant P159S 475C>T MELA-AU 16 56403113 56403113 single base substitution G A missense_variant P250S 748C>T MELA-AU 16 56403113 56403113 single base substitution G A missense_variant P503S 1507C>T MELA-AU 16 56403113 56403113 single base substitution G A upstream_gene_variant MELA-AU 16 56403363 56403363 single base substitution G A intron_variant MELA-AU 16 56403363 56403363 single base substitution G A upstream_gene_variant MELA-AU 16 56403727 56403727 single base substitution G A intron_variant MELA-AU 16 56403727 56403727 single base substitution G A upstream_gene_variant MELA-AU 16 56404767 56404767 single base substitution G A intron_variant MELA-AU 16 56404767 56404767 single base substitution G A upstream_gene_variant MELA-AU 16 56406298 56406298 single base substitution G A intron_variant MELA-AU 16 56406298 56406298 single base substitution G A upstream_gene_variant MELA-AU 16 56407124 56407124 single base substitution G A intron_variant MELA-AU 16 56407855 56407855 single base substitution G A intron_variant MELA-AU 16 56408433 56408433 single base substitution G A intron_variant MELA-AU 16 56408569 56408570 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 16 56409432 56409432 single base substitution G A intron_variant MELA-AU 16 56409443 56409443 single base substitution G A intron_variant MELA-AU 16 56409489 56409489 single base substitution G C intron_variant MELA-AU 16 56409636 56409636 single base substitution G A intron_variant MELA-AU 16 56409743 56409743 single base substitution G A intron_variant MELA-AU 16 56410775 56410775 single base substitution G A intron_variant MELA-AU 16 56411435 56411435 single base substitution C T intron_variant MELA-AU 16 56411565 56411565 single base substitution A G intron_variant MELA-AU 16 56411575 56411575 single base substitution G A intron_variant MELA-AU 16 56411649 56411649 single base substitution G A intron_variant MELA-AU 16 56412255 56412255 single base substitution G A intron_variant MELA-AU 16 56412879 56412879 single base substitution G A intron_variant MELA-AU 16 56413593 56413593 single base substitution G A intron_variant MELA-AU 16 56413870 56413870 single base substitution G A intron_variant MELA-AU 16 56413958 56413958 single base substitution C T intron_variant MELA-AU 16 56414251 56414251 single base substitution G A intron_variant MELA-AU 16 56415157 56415157 single base substitution G A downstream_gene_variant MELA-AU 16 56415157 56415157 single base substitution G A intron_variant MELA-AU 16 56415274 56415274 single base substitution G A downstream_gene_variant MELA-AU 16 56415274 56415274 single base substitution G A intron_variant MELA-AU 16 56415420 56415420 single base substitution T C downstream_gene_variant MELA-AU 16 56415420 56415420 single base substitution T C intron_variant MELA-AU 16 56416126 56416126 single base substitution T C downstream_gene_variant MELA-AU 16 56416126 56416126 single base substitution T C intron_variant MELA-AU 16 56417230 56417230 single base substitution C T downstream_gene_variant MELA-AU 16 56417230 56417230 single base substitution C T intron_variant MELA-AU 16 56417581 56417581 single base substitution A G downstream_gene_variant MELA-AU 16 56417581 56417581 single base substitution A G intron_variant MELA-AU 16 56419448 56419448 single base substitution G A downstream_gene_variant MELA-AU 16 56419448 56419448 single base substitution G A intron_variant MELA-AU 16 56419506 56419506 single base substitution G A downstream_gene_variant MELA-AU 16 56419506 56419506 single base substitution G A intron_variant MELA-AU 16 56419846 56419846 single base substitution G A exon_variant MELA-AU 16 56419846 56419846 single base substitution G A synonymous_variant S111S 333C>T MELA-AU 16 56419846 56419846 single base substitution G A synonymous_variant S202S 606C>T MELA-AU 16 56419846 56419846 single base substitution G A synonymous_variant S455S 1365C>T MELA-AU 16 56419846 56419846 single base substitution G C exon_variant MELA-AU 16 56419846 56419846 single base substitution G C synonymous_variant S111S 333C>G MELA-AU 16 56419846 56419846 single base substitution G C synonymous_variant S202S 606C>G MELA-AU 16 56419846 56419846 single base substitution G C synonymous_variant S455S 1365C>G MELA-AU 16 56420227 56420227 single base substitution T C intron_variant MELA-AU 16 56420227 56420227 single base substitution T C upstream_gene_variant MELA-AU 16 56420717 56420717 single base substitution G A intron_variant MELA-AU 16 56420717 56420717 single base substitution G A upstream_gene_variant MELA-AU 16 56420991 56420991 single base substitution G A intron_variant MELA-AU 16 56420991 56420991 single base substitution G A upstream_gene_variant MELA-AU 16 56421116 56421116 single base substitution G A intron_variant MELA-AU 16 56421116 56421116 single base substitution G A upstream_gene_variant MELA-AU 16 56421117 56421117 single base substitution G A intron_variant MELA-AU 16 56421117 56421117 single base substitution G A upstream_gene_variant MELA-AU 16 56421681 56421681 single base substitution G C intron_variant MELA-AU 16 56421681 56421681 single base substitution G C upstream_gene_variant MELA-AU 16 56422112 56422112 single base substitution G A intron_variant MELA-AU 16 56422112 56422112 single base substitution G A upstream_gene_variant MELA-AU 16 56422376 56422376 single base substitution T C intron_variant MELA-AU 16 56422376 56422376 single base substitution T C upstream_gene_variant MELA-AU 16 56422586 56422586 single base substitution C A intron_variant MELA-AU 16 56422586 56422586 single base substitution C A upstream_gene_variant MELA-AU 16 56422679 56422679 single base substitution G A intron_variant MELA-AU 16 56422679 56422679 single base substitution G A missense_variant P170S 508C>T MELA-AU 16 56422679 56422679 single base substitution G A upstream_gene_variant MELA-AU 16 56423323 56423323 single base substitution C T intron_variant MELA-AU 16 56423323 56423323 single base substitution C T upstream_gene_variant MELA-AU 16 56423367 56423367 single base substitution A C intron_variant MELA-AU 16 56423367 56423367 single base substitution A C upstream_gene_variant MELA-AU 16 56424062 56424062 single base substitution G A intron_variant MELA-AU 16 56424062 56424062 single base substitution G A upstream_gene_variant MELA-AU 16 56424446 56424446 single base substitution G A intron_variant MELA-AU 16 56424446 56424446 single base substitution G A upstream_gene_variant MELA-AU 16 56425071 56425071 single base substitution A G intron_variant MELA-AU 16 56425107 56425107 single base substitution A T intron_variant MELA-AU 16 56425257 56425257 single base substitution G A intron_variant MELA-AU 16 56425519 56425520 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 56426343 56426343 single base substitution G A intron_variant MELA-AU 16 56426900 56426900 single base substitution G A intron_variant MELA-AU 16 56427442 56427442 single base substitution G A intron_variant MELA-AU 16 56427740 56427740 single base substitution G A intron_variant MELA-AU 16 56428133 56428133 single base substitution G A intron_variant MELA-AU 16 56428755 56428755 single base substitution G A intron_variant MELA-AU 16 56429885 56429885 single base substitution G A intron_variant MELA-AU 16 56429886 56429886 single base substitution G A intron_variant MELA-AU 16 56429887 56429887 single base substitution G A intron_variant MELA-AU 16 56429995 56429995 single base substitution A G intron_variant MELA-AU 16 56430083 56430083 single base substitution G A intron_variant MELA-AU 16 56430624 56430624 single base substitution A G intron_variant MELA-AU 16 56431239 56431239 single base substitution A C intron_variant MELA-AU 16 56432466 56432466 single base substitution G A downstream_gene_variant MELA-AU 16 56432466 56432466 single base substitution G A intron_variant MELA-AU 16 56432973 56432973 single base substitution A T downstream_gene_variant MELA-AU 16 56432973 56432973 single base substitution A T intron_variant MELA-AU 16 56433637 56433637 single base substitution G A downstream_gene_variant MELA-AU 16 56433637 56433637 single base substitution G A intron_variant MELA-AU 16 56433669 56433669 single base substitution G A downstream_gene_variant MELA-AU 16 56433669 56433669 single base substitution G A intron_variant MELA-AU 16 56433837 56433837 single base substitution G A downstream_gene_variant MELA-AU 16 56433837 56433837 single base substitution G A intron_variant MELA-AU 16 56434111 56434111 single base substitution G A downstream_gene_variant MELA-AU 16 56434111 56434111 single base substitution G A intron_variant MELA-AU 16 56434389 56434389 single base substitution C T downstream_gene_variant MELA-AU 16 56434389 56434389 single base substitution C T intron_variant MELA-AU 16 56434455 56434455 single base substitution T C downstream_gene_variant MELA-AU 16 56434455 56434455 single base substitution T C intron_variant MELA-AU 16 56434974 56434975 multiple base substitution (>=2bp and <=200bp) AA TT downstream_gene_variant MELA-AU 16 56434974 56434975 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 16 56435334 56435334 single base substitution C T downstream_gene_variant MELA-AU 16 56435334 56435334 single base substitution C T intron_variant MELA-AU 16 56435483 56435483 single base substitution G A downstream_gene_variant MELA-AU 16 56435483 56435483 single base substitution G A intron_variant MELA-AU 16 56435873 56435873 single base substitution A C downstream_gene_variant MELA-AU 16 56435873 56435873 single base substitution A C intron_variant MELA-AU 16 56435873 56435873 single base substitution A C upstream_gene_variant MELA-AU 16 56436293 56436294 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 56436293 56436294 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 56436293 56436294 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 56436394 56436394 single base substitution G A downstream_gene_variant MELA-AU 16 56436394 56436394 single base substitution G A intron_variant MELA-AU 16 56436394 56436394 single base substitution G A upstream_gene_variant MELA-AU 16 56436971 56436971 single base substitution G A downstream_gene_variant MELA-AU 16 56436971 56436971 single base substitution G A missense_variant T20I 59C>T MELA-AU 16 56436971 56436971 single base substitution G A synonymous_variant Y15Y 45C>T MELA-AU 16 56436971 56436971 single base substitution G A synonymous_variant Y205Y 615C>T MELA-AU 16 56436971 56436971 single base substitution G A synonymous_variant Y300Y 900C>T MELA-AU 16 56436971 56436971 single base substitution G A upstream_gene_variant MELA-AU 16 56437165 56437165 single base substitution G A downstream_gene_variant MELA-AU 16 56437165 56437165 single base substitution G A intron_variant MELA-AU 16 56437165 56437165 single base substitution G A upstream_gene_variant MELA-AU 16 56437205 56437205 single base substitution C T downstream_gene_variant MELA-AU 16 56437205 56437205 single base substitution C T intron_variant MELA-AU 16 56437205 56437205 single base substitution C T upstream_gene_variant MELA-AU 16 56437256 56437256 single base substitution A G downstream_gene_variant MELA-AU 16 56437256 56437256 single base substitution A G intron_variant MELA-AU 16 56437256 56437256 single base substitution A G upstream_gene_variant MELA-AU 16 56438101 56438101 single base substitution G A downstream_gene_variant MELA-AU 16 56438101 56438101 single base substitution G A intron_variant MELA-AU 16 56438101 56438101 single base substitution G A upstream_gene_variant MELA-AU 16 56438165 56438165 single base substitution A G downstream_gene_variant MELA-AU 16 56438165 56438165 single base substitution A G intron_variant MELA-AU 16 56438165 56438165 single base substitution A G upstream_gene_variant MELA-AU 16 56438211 56438211 single base substitution C A downstream_gene_variant MELA-AU 16 56438211 56438211 single base substitution C A intron_variant MELA-AU 16 56438211 56438211 single base substitution C A upstream_gene_variant MELA-AU 16 56438365 56438365 single base substitution A G downstream_gene_variant MELA-AU 16 56438365 56438365 single base substitution A G intron_variant MELA-AU 16 56438365 56438365 single base substitution A G upstream_gene_variant MELA-AU 16 56438670 56438670 single base substitution G A downstream_gene_variant MELA-AU 16 56438670 56438670 single base substitution G A intron_variant MELA-AU 16 56438670 56438670 single base substitution G A upstream_gene_variant MELA-AU 16 56438851 56438851 single base substitution G A downstream_gene_variant MELA-AU 16 56438851 56438851 single base substitution G A synonymous_variant S175S 525C>T MELA-AU 16 56438851 56438851 single base substitution G A synonymous_variant S270S 810C>T MELA-AU 16 56438851 56438851 single base substitution G A upstream_gene_variant MELA-AU 16 56439164 56439164 single base substitution A T downstream_gene_variant MELA-AU 16 56439164 56439164 single base substitution A T splice_region_variant MELA-AU 16 56439164 56439164 single base substitution A T upstream_gene_variant MELA-AU 16 56439202 56439202 single base substitution A T downstream_gene_variant MELA-AU 16 56439202 56439202 single base substitution A T intron_variant MELA-AU 16 56439202 56439202 single base substitution A T upstream_gene_variant MELA-AU 16 56439572 56439572 single base substitution C T downstream_gene_variant MELA-AU 16 56439572 56439572 single base substitution C T intron_variant MELA-AU 16 56439572 56439572 single base substitution C T upstream_gene_variant MELA-AU 16 56440873 56440873 single base substitution G A downstream_gene_variant MELA-AU 16 56440873 56440873 single base substitution G A intron_variant MELA-AU 16 56440873 56440873 single base substitution G A upstream_gene_variant MELA-AU 16 56440902 56440902 single base substitution G A downstream_gene_variant MELA-AU 16 56440902 56440902 single base substitution G A intron_variant MELA-AU 16 56440902 56440902 single base substitution G A upstream_gene_variant MELA-AU 16 56441558 56441558 single base substitution G A downstream_gene_variant MELA-AU 16 56441558 56441558 single base substitution G A intron_variant MELA-AU 16 56441558 56441558 single base substitution G A upstream_gene_variant MELA-AU 16 56442188 56442188 single base substitution T A intron_variant MELA-AU 16 56443008 56443008 single base substitution G A intron_variant MELA-AU 16 56443557 56443557 single base substitution G A downstream_gene_variant MELA-AU 16 56443557 56443557 single base substitution G A intron_variant MELA-AU 16 56444125 56444125 single base substitution G A downstream_gene_variant MELA-AU 16 56444125 56444125 single base substitution G A intron_variant MELA-AU 16 56444284 56444284 single base substitution G A downstream_gene_variant MELA-AU 16 56444284 56444284 single base substitution G A intron_variant MELA-AU 16 56444290 56444290 single base substitution G A downstream_gene_variant MELA-AU 16 56444290 56444290 single base substitution G A intron_variant MELA-AU 16 56444628 56444628 single base substitution T A downstream_gene_variant MELA-AU 16 56444628 56444628 single base substitution T A intron_variant MELA-AU 16 56447002 56447002 single base substitution C T downstream_gene_variant MELA-AU 16 56447002 56447002 single base substitution C T intron_variant MELA-AU 16 56448363 56448363 single base substitution C T intron_variant MELA-AU 16 56449644 56449644 single base substitution C T intron_variant MELA-AU 16 56450108 56450108 single base substitution G T intron_variant MELA-AU 16 56450955 56450955 single base substitution A C intron_variant MELA-AU 16 56450963 56450963 single base substitution G A intron_variant MELA-AU 16 56451115 56451115 single base substitution A C intron_variant MELA-AU 16 56451236 56451236 single base substitution C T intron_variant MELA-AU 16 56451570 56451570 single base substitution G A intron_variant MELA-AU 16 56452200 56452200 single base substitution G A intron_variant MELA-AU 16 56452512 56452512 single base substitution G A intron_variant MELA-AU 16 56452537 56452537 single base substitution C A intron_variant MELA-AU 16 56452628 56452628 single base substitution G A intron_variant MELA-AU 16 56453481 56453481 single base substitution G A intron_variant MELA-AU 16 56453969 56453969 single base substitution G A intron_variant MELA-AU 16 56454028 56454028 single base substitution G A intron_variant MELA-AU 16 56455156 56455156 single base substitution G A intron_variant MELA-AU 16 56456680 56456680 single base substitution C T intron_variant MELA-AU 16 56456981 56456981 single base substitution G A intron_variant MELA-AU 16 56457319 56457319 single base substitution C T intron_variant MELA-AU 16 56457422 56457422 single base substitution G A intron_variant MELA-AU 16 56457896 56457896 single base substitution C T exon_variant MELA-AU 16 56457896 56457896 single base substitution C T intron_variant MELA-AU 16 56460139 56460139 single base substitution C T upstream_gene_variant MELA-AU 16 56460484 56460484 single base substitution C T upstream_gene_variant MELA-AU 16 56461326 56461326 single base substitution A G upstream_gene_variant MELA-AU 16 56462409 56462409 single base substitution C T upstream_gene_variant MELA-AU 16 56462872 56462872 single base substitution G A upstream_gene_variant MELA-AU 16 56463331 56463331 single base substitution G A upstream_gene_variant ORCA-IN 16 56435650 56435650 single base substitution G T downstream_gene_variant ORCA-IN 16 56435650 56435650 single base substitution G T exon_variant ORCA-IN 16 56435650 56435650 single base substitution G T missense_variant F360L 1080C>A ORCA-IN 16 56435650 56435650 single base substitution G T missense_variant F75L 225C>A ORCA-IN 16 56435650 56435650 single base substitution G T missense_variant S80Y 239C>A ORCA-IN 16 56438508 56438508 single base substitution T C downstream_gene_variant ORCA-IN 16 56438508 56438508 single base substitution T C intron_variant ORCA-IN 16 56438508 56438508 single base substitution T C upstream_gene_variant OV-AU 16 56393550 56393550 single base substitution G C downstream_gene_variant OV-AU 16 56394830 56394830 single base substitution G A downstream_gene_variant OV-AU 16 56414259 56414259 single base substitution G A intron_variant OV-AU 16 56432212 56432212 single base substitution T C downstream_gene_variant OV-AU 16 56432212 56432212 single base substitution T C intron_variant OV-AU 16 56433662 56433662 single base substitution A T downstream_gene_variant OV-AU 16 56433662 56433662 single base substitution A T intron_variant OV-AU 16 56438274 56438274 single base substitution A G downstream_gene_variant OV-AU 16 56438274 56438274 single base substitution A G intron_variant OV-AU 16 56438274 56438274 single base substitution A G upstream_gene_variant OV-AU 16 56447754 56447754 single base substitution A G downstream_gene_variant OV-AU 16 56447754 56447754 single base substitution A G intron_variant OV-AU 16 56450099 56450099 single base substitution G A intron_variant OV-AU 16 56451506 56451506 single base substitution G A intron_variant OV-AU 16 56452882 56452882 single base substitution G T intron_variant OV-AU 16 56454124 56454124 single base substitution C G intron_variant OV-AU 16 56459483 56459483 single base substitution A G upstream_gene_variant PACA-AU 16 56390978 56390978 single base substitution A C downstream_gene_variant PACA-AU 16 56395929 56395929 single base substitution C A 3_prime_UTR_variant PACA-AU 16 56395929 56395929 single base substitution C A downstream_gene_variant PACA-AU 16 56395929 56395929 single base substitution C A exon_variant PACA-AU 16 56396394 56396394 single base substitution C T 3_prime_UTR_variant PACA-AU 16 56396394 56396394 single base substitution C T downstream_gene_variant PACA-AU 16 56396394 56396394 single base substitution C T exon_variant PACA-AU 16 56398015 56398015 single base substitution G A downstream_gene_variant PACA-AU 16 56398015 56398015 single base substitution G A exon_variant PACA-AU 16 56398015 56398015 single base substitution G A splice_region_variant PACA-AU 16 56398015 56398015 single base substitution G A upstream_gene_variant PACA-AU 16 56399767 56399767 single base substitution G C downstream_gene_variant PACA-AU 16 56399767 56399767 single base substitution G C intron_variant PACA-AU 16 56399767 56399767 single base substitution G C upstream_gene_variant PACA-AU 16 56405335 56405335 single base substitution G C intron_variant PACA-AU 16 56405335 56405335 single base substitution G C upstream_gene_variant PACA-AU 16 56412001 56412009 deletion of <=200bp AATGATTCT - intron_variant PACA-AU 16 56415169 56415169 deletion of <=200bp C - downstream_gene_variant PACA-AU 16 56415169 56415169 deletion of <=200bp C - intron_variant PACA-AU 16 56421019 56421019 single base substitution A C intron_variant PACA-AU 16 56421019 56421019 single base substitution A C upstream_gene_variant PACA-AU 16 56425014 56425014 single base substitution C T intron_variant PACA-AU 16 56427331 56427331 single base substitution A G intron_variant PACA-AU 16 56442701 56442701 single base substitution T A intron_variant PACA-AU 16 56445550 56445550 single base substitution C T downstream_gene_variant PACA-AU 16 56445550 56445550 single base substitution C T intron_variant PACA-AU 16 56449766 56449766 single base substitution G T intron_variant PACA-AU 16 56455796 56455796 single base substitution C A intron_variant PACA-AU 16 56456687 56456687 single base substitution C T intron_variant PACA-AU 16 56461650 56461650 single base substitution G A upstream_gene_variant PACA-CA 16 56395522 56395522 single base substitution A T 3_prime_UTR_variant PACA-CA 16 56395522 56395522 single base substitution A T downstream_gene_variant PACA-CA 16 56397654 56397654 single base substitution C T downstream_gene_variant PACA-CA 16 56397654 56397654 single base substitution C T exon_variant PACA-CA 16 56397654 56397654 single base substitution C T intron_variant PACA-CA 16 56398332 56398332 single base substitution A C downstream_gene_variant PACA-CA 16 56398332 56398332 single base substitution A C intron_variant PACA-CA 16 56398332 56398332 single base substitution A C upstream_gene_variant PACA-CA 16 56399005 56399005 single base substitution A G downstream_gene_variant PACA-CA 16 56399005 56399005 single base substitution A G intron_variant PACA-CA 16 56399005 56399005 single base substitution A G upstream_gene_variant PACA-CA 16 56403640 56403640 single base substitution G A intron_variant PACA-CA 16 56403640 56403640 single base substitution G A upstream_gene_variant PACA-CA 16 56408960 56408960 single base substitution A T intron_variant PACA-CA 16 56409050 56409050 single base substitution C A intron_variant PACA-CA 16 56423146 56423146 single base substitution G A intron_variant PACA-CA 16 56423146 56423146 single base substitution G A synonymous_variant A124A 372C>T PACA-CA 16 56423146 56423146 single base substitution G A synonymous_variant A409A 1227C>T PACA-CA 16 56423146 56423146 single base substitution G A upstream_gene_variant PACA-CA 16 56425651 56425651 single base substitution G C intron_variant PACA-CA 16 56428097 56428097 single base substitution G C intron_variant PACA-CA 16 56433870 56433870 single base substitution C T downstream_gene_variant PACA-CA 16 56433870 56433870 single base substitution C T intron_variant PACA-CA 16 56446093 56446093 single base substitution G A downstream_gene_variant PACA-CA 16 56446093 56446093 single base substitution G A intron_variant PACA-CA 16 56447522 56447522 deletion of <=200bp A - downstream_gene_variant PACA-CA 16 56447522 56447522 deletion of <=200bp A - intron_variant PACA-CA 16 56447741 56447741 insertion of <=200bp - GACATT downstream_gene_variant PACA-CA 16 56447741 56447741 insertion of <=200bp - GACATT intron_variant PACA-CA 16 56447803 56447803 single base substitution A G downstream_gene_variant PACA-CA 16 56447803 56447803 single base substitution A G intron_variant PACA-CA 16 56448184 56448184 single base substitution G C downstream_gene_variant PACA-CA 16 56448184 56448184 single base substitution G C exon_variant PACA-CA 16 56448184 56448184 single base substitution G C missense_variant L110V 328C>G PACA-CA 16 56448184 56448184 single base substitution G C missense_variant L15V 43C>G PACA-CA 16 56449565 56449565 single base substitution G T intron_variant PACA-CA 16 56450583 56450583 single base substitution G T intron_variant PACA-CA 16 56450723 56450723 single base substitution A C intron_variant PACA-CA 16 56451680 56451680 single base substitution C T intron_variant PACA-CA 16 56453777 56453777 single base substitution C T intron_variant PACA-CA 16 56457878 56457878 single base substitution A G exon_variant PACA-CA 16 56457878 56457878 single base substitution A G intron_variant PACA-CA 16 56458215 56458215 single base substitution G T intron_variant PACA-CA 16 56458215 56458215 single base substitution G T upstream_gene_variant PACA-CA 16 56463403 56463403 deletion of <=200bp T - upstream_gene_variant PAEN-AU 16 56426547 56426547 single base substitution G A intron_variant PAEN-AU 16 56444576 56444576 single base substitution T C downstream_gene_variant PAEN-AU 16 56444576 56444576 single base substitution T C intron_variant PAEN-AU 16 56446962 56446962 single base substitution G A downstream_gene_variant PAEN-AU 16 56446962 56446962 single base substitution G A intron_variant PAEN-AU 16 56460119 56460119 single base substitution C A upstream_gene_variant PBCA-DE 16 56396486 56396486 single base substitution C T 3_prime_UTR_variant PBCA-DE 16 56396486 56396486 single base substitution C T downstream_gene_variant PBCA-DE 16 56396486 56396486 single base substitution C T exon_variant PBCA-DE 16 56417047 56417047 single base substitution T C downstream_gene_variant PBCA-DE 16 56417047 56417047 single base substitution T C intron_variant PBCA-DE 16 56421967 56421967 single base substitution A G intron_variant PBCA-DE 16 56421967 56421967 single base substitution A G upstream_gene_variant PBCA-DE 16 56438110 56438110 single base substitution C T downstream_gene_variant PBCA-DE 16 56438110 56438110 single base substitution C T intron_variant PBCA-DE 16 56438110 56438110 single base substitution C T upstream_gene_variant PBCA-DE 16 56444439 56444439 single base substitution C T downstream_gene_variant PBCA-DE 16 56444439 56444439 single base substitution C T intron_variant PBCA-DE 16 56448568 56448568 single base substitution A G intron_variant PBCA-DE 16 56448940 56448940 single base substitution G A intron_variant PBCA-DE 16 56455993 56455993 single base substitution C A intron_variant PBCA-DE 16 56459767 56459767 single base substitution A C upstream_gene_variant PRAD-CA 16 56408224 56408224 single base substitution C G intron_variant PRAD-CA 16 56432200 56432200 single base substitution A C downstream_gene_variant PRAD-CA 16 56432200 56432200 single base substitution A C intron_variant PRAD-CA 16 56432217 56432217 single base substitution A G downstream_gene_variant PRAD-CA 16 56432217 56432217 single base substitution A G intron_variant PRAD-CA 16 56441100 56441100 single base substitution T G downstream_gene_variant PRAD-CA 16 56441100 56441100 single base substitution T G intron_variant PRAD-CA 16 56441100 56441100 single base substitution T G upstream_gene_variant PRAD-UK 16 56391889 56391894 deletion of <=200bp TTCGAT - downstream_gene_variant PRAD-UK 16 56397080 56397080 single base substitution T C downstream_gene_variant PRAD-UK 16 56397080 56397080 single base substitution T C exon_variant PRAD-UK 16 56397080 56397080 single base substitution T C intron_variant PRAD-UK 16 56406240 56406240 single base substitution A C intron_variant PRAD-UK 16 56406240 56406240 single base substitution A C upstream_gene_variant PRAD-UK 16 56407679 56407679 single base substitution C G intron_variant PRAD-UK 16 56408934 56408934 single base substitution C T intron_variant PRAD-UK 16 56427911 56427911 single base substitution A C intron_variant PRAD-UK 16 56444186 56444186 single base substitution G C downstream_gene_variant PRAD-UK 16 56444186 56444186 single base substitution G C intron_variant PRAD-UK 16 56448539 56448539 single base substitution T C intron_variant PRAD-UK 16 56452280 56452280 single base substitution G T intron_variant PRAD-UK 16 56459235 56459235 single base substitution G C missense_variant P2R 5C>G PRAD-UK 16 56459235 56459235 single base substitution G C upstream_gene_variant PRAD-UK 16 56459236 56459236 single base substitution G T missense_variant P2T 4C>A PRAD-UK 16 56459236 56459236 single base substitution G T upstream_gene_variant PRAD-UK 16 56460974 56460974 single base substitution A T upstream_gene_variant PRAD-UK 16 56460975 56460975 single base substitution T A upstream_gene_variant PRAD-US 16 56398015 56398015 single base substitution G A downstream_gene_variant PRAD-US 16 56398015 56398015 single base substitution G A exon_variant PRAD-US 16 56398015 56398015 single base substitution G A splice_region_variant PRAD-US 16 56398015 56398015 single base substitution G A upstream_gene_variant RECA-EU 16 56396261 56396261 single base substitution T A 3_prime_UTR_variant RECA-EU 16 56396261 56396261 single base substitution T A downstream_gene_variant RECA-EU 16 56396261 56396261 single base substitution T A exon_variant RECA-EU 16 56396262 56396262 single base substitution C T 3_prime_UTR_variant RECA-EU 16 56396262 56396262 single base substitution C T downstream_gene_variant RECA-EU 16 56396262 56396262 single base substitution C T exon_variant RECA-EU 16 56403043 56403043 single base substitution T C intron_variant RECA-EU 16 56403043 56403043 single base substitution T C upstream_gene_variant RECA-EU 16 56405691 56405691 single base substitution C T intron_variant RECA-EU 16 56405691 56405691 single base substitution C T upstream_gene_variant RECA-EU 16 56408322 56408322 single base substitution A C intron_variant RECA-EU 16 56410621 56410621 single base substitution T C intron_variant RECA-EU 16 56412212 56412212 single base substitution G A intron_variant RECA-EU 16 56412431 56412431 single base substitution A G intron_variant RECA-EU 16 56424509 56424509 single base substitution T A intron_variant RECA-EU 16 56424509 56424509 single base substitution T A upstream_gene_variant RECA-EU 16 56426321 56426321 single base substitution C A intron_variant RECA-EU 16 56426623 56426623 single base substitution A C intron_variant RECA-EU 16 56436402 56436402 single base substitution C T downstream_gene_variant RECA-EU 16 56436402 56436402 single base substitution C T intron_variant RECA-EU 16 56436402 56436402 single base substitution C T upstream_gene_variant RECA-EU 16 56442485 56442485 single base substitution C T intron_variant RECA-EU 16 56450779 56450779 single base substitution A C intron_variant RECA-EU 16 56453908 56453908 single base substitution A G intron_variant RECA-EU 16 56457605 56457605 single base substitution G A exon_variant RECA-EU 16 56457605 56457605 single base substitution G A intron_variant RECA-EU 16 56462884 56462884 single base substitution T G upstream_gene_variant SKCA-BR 16 56390461 56390461 single base substitution A C downstream_gene_variant SKCA-BR 16 56391540 56391540 single base substitution A C downstream_gene_variant SKCA-BR 16 56391572 56391572 single base substitution A G downstream_gene_variant SKCA-BR 16 56392079 56392079 single base substitution A G downstream_gene_variant SKCA-BR 16 56392932 56392932 single base substitution C T downstream_gene_variant SKCA-BR 16 56398371 56398371 single base substitution G A downstream_gene_variant SKCA-BR 16 56398371 56398371 single base substitution G A intron_variant SKCA-BR 16 56398371 56398371 single base substitution G A upstream_gene_variant SKCA-BR 16 56399167 56399167 single base substitution G A downstream_gene_variant SKCA-BR 16 56399167 56399167 single base substitution G A intron_variant SKCA-BR 16 56399167 56399167 single base substitution G A upstream_gene_variant SKCA-BR 16 56400289 56400289 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 16 56400289 56400289 insertion of <=200bp - CA intron_variant SKCA-BR 16 56400289 56400289 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 16 56402842 56402842 single base substitution G A intron_variant SKCA-BR 16 56402842 56402842 single base substitution G A upstream_gene_variant SKCA-BR 16 56408326 56408326 single base substitution A C intron_variant SKCA-BR 16 56410282 56410282 single base substitution G A intron_variant SKCA-BR 16 56419212 56419212 single base substitution T C downstream_gene_variant SKCA-BR 16 56419212 56419212 single base substitution T C intron_variant SKCA-BR 16 56420951 56420951 single base substitution T G intron_variant SKCA-BR 16 56420951 56420951 single base substitution T G upstream_gene_variant SKCA-BR 16 56423413 56423413 single base substitution C T intron_variant SKCA-BR 16 56423413 56423413 single base substitution C T upstream_gene_variant SKCA-BR 16 56424808 56424808 single base substitution A T intron_variant SKCA-BR 16 56424808 56424808 single base substitution A T upstream_gene_variant SKCA-BR 16 56429604 56429604 single base substitution G A intron_variant SKCA-BR 16 56431615 56431615 single base substitution A G intron_variant SKCA-BR 16 56432091 56432091 single base substitution A G downstream_gene_variant SKCA-BR 16 56432091 56432091 single base substitution A G intron_variant SKCA-BR 16 56432179 56432179 single base substitution C A downstream_gene_variant SKCA-BR 16 56432179 56432179 single base substitution C A intron_variant SKCA-BR 16 56432196 56432217 deletion of <=200bp GTAAATGTATCATTTATATATA - downstream_gene_variant SKCA-BR 16 56432196 56432217 deletion of <=200bp GTAAATGTATCATTTATATATA - intron_variant SKCA-BR 16 56434193 56434193 single base substitution A C downstream_gene_variant SKCA-BR 16 56434193 56434193 single base substitution A C intron_variant SKCA-BR 16 56436175 56436175 single base substitution G A downstream_gene_variant SKCA-BR 16 56436175 56436175 single base substitution G A intron_variant SKCA-BR 16 56436175 56436175 single base substitution G A upstream_gene_variant SKCA-BR 16 56446612 56446612 single base substitution C T downstream_gene_variant SKCA-BR 16 56446612 56446612 single base substitution C T intron_variant SKCA-BR 16 56448436 56448436 single base substitution G A intron_variant SKCA-BR 16 56449547 56449547 single base substitution G A intron_variant SKCA-BR 16 56454363 56454363 single base substitution C T intron_variant SKCA-BR 16 56459530 56459530 single base substitution G C upstream_gene_variant SKCA-BR 16 56460690 56460690 single base substitution A G upstream_gene_variant SKCA-BR 16 56460825 56460825 single base substitution G A upstream_gene_variant SKCA-BR 16 56461281 56461281 single base substitution G A upstream_gene_variant SKCA-BR 16 56464156 56464156 single base substitution A T upstream_gene_variant SKCM-US 16 56397837 56397837 single base substitution G A downstream_gene_variant SKCM-US 16 56397837 56397837 single base substitution G A exon_variant SKCM-US 16 56397837 56397837 single base substitution G A missense_variant R250C 748C>T SKCM-US 16 56397837 56397837 single base substitution G A missense_variant R594C 1780C>T SKCM-US 16 56397837 56397837 single base substitution G A upstream_gene_variant SKCM-US 16 56397846 56397846 single base substitution G A downstream_gene_variant SKCM-US 16 56397846 56397846 single base substitution G A exon_variant SKCM-US 16 56397846 56397846 single base substitution G A stop_gained Q247* 739C>T SKCM-US 16 56397846 56397846 single base substitution G A stop_gained Q591* 1771C>T SKCM-US 16 56397846 56397846 single base substitution G A upstream_gene_variant SKCM-US 16 56401394 56401394 single base substitution G A exon_variant SKCM-US 16 56401394 56401394 single base substitution G A missense_variant P177S 529C>T SKCM-US 16 56401394 56401394 single base substitution G A missense_variant P268S 802C>T SKCM-US 16 56401394 56401394 single base substitution G A missense_variant P521S 1561C>T SKCM-US 16 56401394 56401394 single base substitution G A upstream_gene_variant SKCM-US 16 56403215 56403215 single base substitution G A exon_variant SKCM-US 16 56403215 56403215 single base substitution G A missense_variant P125S 373C>T SKCM-US 16 56403215 56403215 single base substitution G A missense_variant P216S 646C>T SKCM-US 16 56403215 56403215 single base substitution G A missense_variant P469S 1405C>T SKCM-US 16 56403215 56403215 single base substitution G A upstream_gene_variant SKCM-US 16 56423115 56423115 single base substitution G T intron_variant SKCM-US 16 56423115 56423115 single base substitution G T missense_variant H135N 403C>A SKCM-US 16 56423115 56423115 single base substitution G T missense_variant H420N 1258C>A SKCM-US 16 56423115 56423115 single base substitution G T upstream_gene_variant SKCM-US 16 56435650 56435650 single base substitution G A downstream_gene_variant SKCM-US 16 56435650 56435650 single base substitution G A exon_variant SKCM-US 16 56435650 56435650 single base substitution G A missense_variant S80F 239C>T SKCM-US 16 56435650 56435650 single base substitution G A synonymous_variant F360F 1080C>T SKCM-US 16 56435650 56435650 single base substitution G A synonymous_variant F75F 225C>T SKCM-US 16 56436943 56436943 single base substitution G A downstream_gene_variant SKCM-US 16 56436943 56436943 single base substitution G A missense_variant R215C 643C>T SKCM-US 16 56436943 56436943 single base substitution G A missense_variant R25C 73C>T SKCM-US 16 56436943 56436943 single base substitution G A missense_variant R310C 928C>T SKCM-US 16 56436943 56436943 single base substitution G A synonymous_variant F29F 87C>T SKCM-US 16 56436943 56436943 single base substitution G A upstream_gene_variant SKCM-US 16 56448189 56448189 single base substitution C G downstream_gene_variant SKCM-US 16 56448189 56448189 single base substitution C G exon_variant SKCM-US 16 56448189 56448189 single base substitution C G missense_variant G108A 323G>C SKCM-US 16 56448189 56448189 single base substitution C G missense_variant G13A 38G>C STAD-US 16 56401438 56401438 single base substitution C T exon_variant STAD-US 16 56401438 56401438 single base substitution C T missense_variant R162Q 485G>A STAD-US 16 56401438 56401438 single base substitution C T missense_variant R253Q 758G>A STAD-US 16 56401438 56401438 single base substitution C T missense_variant R506Q 1517G>A STAD-US 16 56401438 56401438 single base substitution C T splice_region_variant STAD-US 16 56401438 56401438 single base substitution C T upstream_gene_variant STAD-US 16 56419830 56419830 single base substitution C T exon_variant STAD-US 16 56419830 56419830 single base substitution C T splice_donor_variant STAD-US 16 56437005 56437005 single base substitution A G downstream_gene_variant STAD-US 16 56437005 56437005 single base substitution A G missense_variant M194T 581T>C STAD-US 16 56437005 56437005 single base substitution A G missense_variant M289T 866T>C STAD-US 16 56437005 56437005 single base substitution A G missense_variant M4T 11T>C STAD-US 16 56437005 56437005 single base substitution A G missense_variant W9R 25T>C STAD-US 16 56437005 56437005 single base substitution A G upstream_gene_variant THCA-SA 16 56395497 56395497 single base substitution T C 3_prime_UTR_variant THCA-SA 16 56395497 56395497 single base substitution T C downstream_gene_variant THCA-SA 16 56459137 56459137 single base substitution C T missense_variant A35T 103G>A THCA-SA 16 56459137 56459137 single base substitution C T upstream_gene_variant THCA-SA 16 56463625 56463625 single base substitution C T upstream_gene_variant UCEC-US 16 56396223 56396223 single base substitution C A 3_prime_UTR_variant UCEC-US 16 56396223 56396223 single base substitution C A downstream_gene_variant UCEC-US 16 56396223 56396223 single base substitution C A exon_variant UCEC-US 16 56396410 56396410 single base substitution G A 3_prime_UTR_variant UCEC-US 16 56396410 56396410 single base substitution G A downstream_gene_variant UCEC-US 16 56396410 56396410 single base substitution G A exon_variant UCEC-US 16 56397922 56397922 single base substitution C A downstream_gene_variant UCEC-US 16 56397922 56397922 single base substitution C A exon_variant UCEC-US 16 56397922 56397922 single base substitution C A missense_variant E221D 663G>T UCEC-US 16 56397922 56397922 single base substitution C A missense_variant E565D 1695G>T UCEC-US 16 56397922 56397922 single base substitution C A upstream_gene_variant UCEC-US 16 56419833 56419833 single base substitution T G exon_variant UCEC-US 16 56419833 56419833 single base substitution T G missense_variant M116L 346A>C UCEC-US 16 56419833 56419833 single base substitution T G missense_variant M207L 619A>C UCEC-US 16 56419833 56419833 single base substitution T G missense_variant M460L 1378A>C UCEC-US 16 56419833 56419833 single base substitution T G splice_region_variant UCEC-US 16 56423100 56423100 single base substitution C T intron_variant UCEC-US 16 56423100 56423100 single base substitution C T missense_variant D140N 418G>A UCEC-US 16 56423100 56423100 single base substitution C T missense_variant D425N 1273G>A UCEC-US 16 56423100 56423100 single base substitution C T upstream_gene_variant UCEC-US 16 56423217 56423217 single base substitution C T intron_variant UCEC-US 16 56423217 56423217 single base substitution C T missense_variant D101N 301G>A UCEC-US 16 56423217 56423217 single base substitution C T missense_variant D386N 1156G>A UCEC-US 16 56423217 56423217 single base substitution C T upstream_gene_variant UCEC-US 16 56436932 56436932 single base substitution C A downstream_gene_variant UCEC-US 16 56436932 56436932 single base substitution C A missense_variant K218N 654G>T UCEC-US 16 56436932 56436932 single base substitution C A missense_variant K28N 84G>T UCEC-US 16 56436932 56436932 single base substitution C A missense_variant K313N 939G>T UCEC-US 16 56436932 56436932 single base substitution C A missense_variant R33I 98G>T UCEC-US 16 56436932 56436932 single base substitution C A upstream_gene_variant UCEC-US 16 56436948 56436948 single base substitution C T downstream_gene_variant UCEC-US 16 56436948 56436948 single base substitution C T missense_variant E28K 82G>A UCEC-US 16 56436948 56436948 single base substitution C T missense_variant R213Q 638G>A UCEC-US 16 56436948 56436948 single base substitution C T missense_variant R23Q 68G>A UCEC-US 16 56436948 56436948 single base substitution C T missense_variant R308Q 923G>A UCEC-US 16 56436948 56436948 single base substitution C T upstream_gene_variant UCEC-US 16 56442017 56442017 single base substitution C T exon_variant UCEC-US 16 56442017 56442017 single base substitution C T synonymous_variant S175S 525G>A UCEC-US 16 56442017 56442017 single base substitution C T synonymous_variant S80S 240G>A UCEC-US 16 56442017 56442017 single base substitution C T upstream_gene_variant UCEC-US 16 56448257 56448257 single base substitution C A splice_acceptor_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-G7-7502-01 COSM3988529 c.1517G>T p.R506L Substitution - Missense 16:56367526-56367526 - TCGA-D1-A103-01 COSM971667 c.256-1G>T p.? Unknown 16:56414345-56414345 - PCSI0022 COSM216372 c.328C>G p.L110V Substitution - Missense 16:56414272-56414272 - HCC29T COSM1609427 c.944A>G p.Y315C Substitution - Missense 16:56403015-56403015 - TCGA-AG-A002-01 COSM259408 c.358G>T p.D120Y Substitution - Missense 16:56409579-56409579 - TCGA-BR-4361-01 COSM4061334 c.866T>C p.M289T Substitution - Missense 16:56403093-56403093 - 8012788 COSM3782963 c.1602C>T p.T534T Substitution - coding silent 16:56364103-56364103 - H1155 COSM1195780 c.1133G>A p.C378Y Substitution - Missense 16:56389328-56389328 - TCGA-CG-5733-01 COSM4061332 c.1517G>A p.R506Q Substitution - Missense 16:56367526-56367526 - sysucc-274T COSM5475878 c.1784+7C>T p.? Unknown 16:56363914-56363914 - TCGA-EE-A29C-06 COSM2835735 c.1780C>T p.R594C Substitution - Missense 16:56363925-56363925 - T3267 COSM4661370 c.1692C>T p.F564F Substitution - coding silent 16:56364013-56364013 - TCGA-EJ-7125-01 COSM3672283 c.1172G>T p.R391M Substitution - Missense 16:56389289-56389289 - PCSI_0022_Pa_X COSM216372 c.328C>G p.L110V Substitution - Missense 16:56414272-56414272 - TCGA-HC-7077-01 COSM3672284 c.958G>T p.G320* Substitution - Nonsense 16:56403001-56403001 - 61 COSM5740656 c.1781G>A p.R594H Substitution - Missense 16:56363924-56363924 - T3351 COSM4661371 c.1166G>A p.R389H Substitution - Missense 16:56389295-56389295 - TCGA-29-1784-01 COSM1324395 c.1060C>G p.L354V Substitution - Missense 16:56401758-56401758 - PCSI_0022_Pa_C COSM216372 c.328C>G p.L110V Substitution - Missense 16:56414272-56414272 - TCGA-GN-A265-06 COSM3510370 c.1258C>A p.H420N Substitution - Missense 16:56389203-56389203 - TCGA-AX-A0J0-01 COSM971660 c.1378A>C p.M460L Substitution - Missense 16:56385921-56385921 - OSCC-GB_00620111 COSM4881355 c.1080C>A p.F360L Substitution - Missense 16:56401738-56401738 - HN_62854 COSM127305 c.1623C>G p.L541L Substitution - coding silent 16:56364082-56364082 - TCGA-CC-A7IK-01 COSM4924880 c.975-2A>T p.? Unknown 16:56401845-56401845 - SNU-C4 COSM4652756 c.1594G>A p.A532T Substitution - Missense 16:56367449-56367449 - PUV4 COSM5030936 c.1373A>G p.N458S Substitution - Missense 16:56385926-56385926 - Pat_63_A COSM2835761 c.895C>T p.R299C Substitution - Missense 16:56403064-56403064 - TCGA-HT-8104-01 COSM3969601 c.1860C>T p.D620D Substitution - coding silent 16:56362981-56362981 - PD7248a COSM5799056 c.1083C>G p.H361Q Substitution - Missense 16:56401735-56401735 - TCGA-AA-A00N-01 COSM273959 c.1490G>A p.R497Q Substitution - Missense 16:56369218-56369218 - CSCC-62-T COSM4503881 c.650C>T p.A217V Substitution - Missense 16:56407980-56407980 - 4000_T COSM1609427 c.944A>G p.Y315C Substitution - Missense 16:56403015-56403015 - TCGA-CZ-5469-01 COSM471838 c.1397A>G p.E466G Substitution - Missense 16:56369311-56369311 - BB10T COSM32810 c.1814A>T p.D605V Substitution - Missense 16:56363027-56363027 - S02344 COSM5693445 c.985G>A p.A329T Substitution - Missense 16:56401833-56401833 - CSCC-31-T COSM4509358 c.804C>T p.L268L Substitution - coding silent 16:56404945-56404945 - 7285 COSM5614376 c.937A>T p.K313* Substitution - Nonsense 16:56403022-56403022 - 35M COSM3969602 c.524C>T p.S175L Substitution - Missense 16:56408106-56408106 - 587222 COSM1182671 c.1787G>A p.R596H Substitution - Missense 16:56363054-56363054 - HCC1395 COSM32771 c.1599+4A>G p.? Unknown 16:56367440-56367440 - 2492730 COSM5728679 c.1928C>T p.S643F Substitution - Missense 16:56362913-56362913 - PT32 COSM5907664 c.1507C>T p.P503S Substitution - Missense 16:56369201-56369201 - MINO COSM1740261 c.764C>T p.T255M Substitution - Missense 16:56404985-56404985 - PD13307a COSM5773432 c.189G>A p.P63P Substitution - coding silent 16:56425139-56425139 - BD55T COSM1182672 c.1055G>A p.R352Q Substitution - Missense 16:56401763-56401763 - TCGA-D9-A1JX-06 COSM3510372 c.323G>C p.G108A Substitution - Missense 16:56414277-56414277 - ESCC_117 COSM5640019 c.497A>T p.K166M Substitution - Missense 16:56409440-56409440 - CHC1774T COSM4802419 c.634G>C p.G212R Substitution - Missense 16:56407996-56407996 - HCC018T COSM5820110 c.427G>A p.E143K Substitution - Missense 16:56409510-56409510 - MedB-1 COSM558254 c.928C>T p.R310C Substitution - Missense 16:56403031-56403031 - TCGA-66-2766-01 COSM703395 c.1408C>G p.Q470E Substitution - Missense 16:56369300-56369300 - TCGA-B5-A0JY-01 COSM971661 c.1273G>A p.D425N Substitution - Missense 16:56389188-56389188 - CLL112 COSM1290545 c.981A>C p.A327A Substitution - coding silent 16:56401837-56401837 - TCGA-AP-A0LM-01 COSM971662 c.1156G>A p.D386N Substitution - Missense 16:56389305-56389305 - HX36T COSM1609427 c.944A>G p.Y315C Substitution - Missense 16:56403015-56403015 - ccRCC-64 COSM1659817 c.348+1G>C p.? Unknown 16:56414251-56414251 - TCGA-HE-A5NF-01 COSM3988528 c.1857T>C p.S619S Substitution - coding silent 16:56362984-56362984 - LUAD_E01047 COSM390100 c.1669G>T p.E557* Substitution - Nonsense 16:56364036-56364036 - TCGA-DU-7007-01 COSM3969602 c.524C>T p.S175L Substitution - Missense 16:56408106-56408106 - sysucc-1163T COSM5458572 c.1864G>A p.V622M Substitution - Missense 16:56362977-56362977 - 40M COSM5584440 c.1869C>T p.T623T Substitution - coding silent 16:56362972-56362972 - TCGA-FJ-A3ZF-01 COSM3794925 c.954G>A p.V318V Substitution - coding silent 16:56403005-56403005 - TCGA-BR-7851-01 COSM4061333 c.1380+1G>A p.? Unknown 16:56385918-56385918 - SNU-175 COSM2835737 c.1700G>A p.R567H Substitution - Missense 16:56364005-56364005 - PTC-46C COSM4129129 c.38G>T p.S13I Substitution - Missense 16:56425290-56425290 - TCGA-B5-A0JY-01 COSM971664 c.923G>A p.R308Q Substitution - Missense 16:56403036-56403036 - cSCCP2 COSM137648 c.1183C>T p.Q395* Substitution - Nonsense 16:56389278-56389278 - TCGA-EJ-A46G-01 COSM3782963 c.1602C>T p.T534T Substitution - coding silent 16:56364103-56364103 - TCGA-BS-A0UV-01 COSM971666 c.525G>A p.S175S Substitution - coding silent 16:56408105-56408105 - TCGA-CC-A7IL-01 COSM4912138 c.1918C>T p.Q640* Substitution - Nonsense 16:56362923-56362923 - HCC29 COSM1609427 c.944A>G p.Y315C Substitution - Missense 16:56403015-56403015 - TCGA-B9-5156-01 COSM3988530 c.1010A>G p.N337S Substitution - Missense 16:56401808-56401808 - TCGA-A6-5661-01 COSM1378460 c.1739G>A p.R580H Substitution - Missense 16:56363966-56363966 - Gp5D COSM2835761 c.895C>T p.R299C Substitution - Missense 16:56403064-56403064 - C126 COSM1740261 c.764C>T p.T255M Substitution - Missense 16:56404985-56404985 - 12-P4072 COSM4579092 c.1846G>T p.G616C Substitution - Missense 16:56362995-56362995 - CSCC-5-T COSM4473832 c.1876C>T p.R626* Substitution - Nonsense 16:56362965-56362965 - HDC54 COSM4636338 c.1259A>C p.H420P Substitution - Missense 16:56389202-56389202 - TCGA-AD-6888-01 COSM1378462 c.326C>G p.P109R Substitution - Missense 16:56414274-56414274 - C391 COSM4441656 c.949C>T p.R317C Substitution - Missense 16:56403010-56403010 - TCGA-D3-A2JL-06 COSM558254 c.928C>T p.R310C Substitution - Missense 16:56403031-56403031 - BD72T COSM5513199 c.1874G>A p.R625H Substitution - Missense 16:56362967-56362967 - 1N01-VS-1T01 COSM4972392 c.1643C>T p.T548M Substitution - Missense 16:56364062-56364062 - T3094 COSM558254 c.928C>T p.R310C Substitution - Missense 16:56403031-56403031 - S02397 COSM5699128 c.289_294delTTGGTG p.L97_V98delLV Deletion - In frame 16:56414306-56414311 - 466 COSM4437198 c.1923G>T p.Q641H Substitution - Missense 16:56362918-56362918 - TCGA-EE-A2GI-06 COSM3510367 c.1771C>T p.Q591* Substitution - Nonsense 16:56363934-56363934 - PD9004a COSM5785850 c.1086-9T>G p.? Unknown 16:56389384-56389384 - TCGA-DI-A0WH-01 COSM971665 c.713T>C p.V238A Substitution - Missense 16:56405036-56405036 - HCC159T COSM3716958 c.1419C>A p.Y473* Substitution - Nonsense 16:56369289-56369289 - CHC1774T COSM4802419 c.634G>C p.G212R Substitution - Missense 16:56407996-56407996 - TCGA-EE-A2ML-06 COSM3510371 c.1080C>T p.F360F Substitution - coding silent 16:56401738-56401738 - TCGA-AG-3586-01 COSM287912 c.1710C>T p.R570R Substitution - coding silent 16:56363995-56363995 - TCGA-D3-A3MR-06 COSM3510369 c.1405C>T p.P469S Substitution - Missense 16:56369303-56369303 - TCGA-G3-A3CK-01 COSM4922432 c.507T>C p.F169F Substitution - coding silent 16:56409430-56409430 - PM-3 COSM5619818 c.920G>A p.R307H Substitution - Missense 16:56403039-56403039 - 49M COSM5589626 c.1856C>T p.S619F Substitution - Missense 16:56362985-56362985 - TCGA-EE-A3AA-06 COSM3510368 c.1561C>T p.P521S Substitution - Missense 16:56367482-56367482 - TCGA-D1-A103-01 COSM971659 c.1695G>T p.E565D Substitution - Missense 16:56364010-56364010 - LP6005334-DNA_E03 COSM2835734 c.1850C>T p.A617V Substitution - Missense 16:56362991-56362991 - CRC-06T COSM5456549 c.1600-9C>T p.? Unknown 16:56364114-56364114 - 3N50-VS-3T50 COSM4982990 c.1699C>A p.R567S Substitution - Missense 16:56364006-56364006 - PCSI_0022_Pa_P COSM216372 c.328C>G p.L110V Substitution - Missense 16:56414272-56414272 - 587256 COSM1182672 c.1055G>A p.R352Q Substitution - Missense 16:56401763-56401763 - PT49 COSM5907664 c.1507C>T p.P503S Substitution - Missense 16:56369201-56369201 - CLN3 COSM5024662 c.1384C>A p.H462N Substitution - Missense 16:56369324-56369324 - TCGA-H4-A2HQ-01 COSM1302037 c.1201G>A p.E401K Substitution - Missense 16:56389260-56389260 - HCC159 COSM3716958 c.1419C>A p.Y473* Substitution - Nonsense 16:56369289-56369289 - GHE0536 COSM1182672 c.1055G>A p.R352Q Substitution - Missense 16:56401763-56401763 - LUAD-E00443 COSM363757 c.1259A>G p.H420R Substitution - Missense 16:56389202-56389202 - TCGA-B5-A0JY-01 COSM971663 c.939G>T p.K313N Substitution - Missense 16:56403020-56403020 - RMS240 COSM2835732 c.1904G>A p.R635Q Substitution - Missense 16:56362937-56362937 - ESO-143 COSM1244893 c.1863C>T p.P621P Substitution - coding silent 16:56362978-56362978 - SNU-175 COSM2835746 c.1508C>A p.P503H Substitution - Missense 16:56369200-56369200 - LP6005409-DNA_H03 COSM4409473 c.1228G>A p.E410K Substitution - Missense 16:56389233-56389233 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.294603;Hs.295012;Hs.295137 16q21 603243 2425717|dbSNP|BC069197|A/G|non-coding||2888|Validated; 2425718|dbSNP|BC069197|C/T|coding|Ser610Ser|2040|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.1599+4A>G 16 56401352 BRCA A T Missense p.D605V c.1814A>T 16 56396939 BRCA C A Nonsense p.G320* c.958G>T 16 56436913 PRAD CC TT Missense p.E392K c.1173_1174delinsAA 16 56423199 CM C G Missense p.G108A c.323G>C 16 56448189 CM C G Missense p.G212A c.635G>C 16 56441907 CM C G Missense p.R366P c.1097G>C 16 56423276 LUAD C T Missense p.E401K c.1201G>A 16 56423172 BLCA C T Missense p.R506Q c.1517G>A 16 56401438 STAD G A 3-UTRSNV . c.1929+414C>T 16 56396410 UCEC G A IntronicSNV . c.514-19C>T 16 56442047 CM G A Missense p.A385V c.1154C>T 16 56423219 LGG G A Missense p.P469S c.1405C>T 16 56403215 CM G A Missense p.P521S c.1561C>T 16 56401394 CM G A Missense p.R310C c.928C>T 16 56436943 CM G A Missense p.R310C c.928C>T 16 56436943 LUAD G A Missense p.R414C c.1240C>T 16 56423133 HNSC G A Missense p.R594C c.1780C>T 16 56397837 CM G A Missense p.S175L c.524C>T 16 56442018 LGG G A Nonsense p.Q591* c.1771C>T 16 56397846 CM G A Synonymous p.F132F c.396C>T 16 56443453 CM G A Synonymous p.F360F c.1080C>T 16 56435650 BRCA G A Synonymous p.F360F c.1080C>T 16 56435650 CM G A Synonymous p.L266L c.798C>T 16 56438863 LUAD G A Synonymous p.R570R c.1710C>T 16 56397907 COREAD G A Synonymous p.T534T c.1602C>T 16 56398015 PRAD G C Missense p.L110V c.328C>G 16 56448184 PAAD G C Missense p.Q470E c.1408C>G 16 56403212 LUSC G C Synonymous p.L541L c.1623C>G 16 56397994 HNSC G T Missense p.L268I c.802C>A 16 56438859 MM T A Nonsense p.K313* c.937A>T 16 56436934 NSCLC T G Synonymous p.A327A c.981A>C 16 56435749 CLL