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 1 16268613 16268613 + Missense_Mutation SNP G G C TCGA-4Z-AA89-01A-11D-A391-08 TCGA-4Z-AA89-10A-01D-A394-08 g.chr1:16268613G>C c.2263C>G c.(2263-2265)Cag>Gag p.Q755E BLCA 1 16268728 16268728 + Silent SNP G G C TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr1:16268728G>C c.2148C>G c.(2146-2148)ctC>ctG p.L716L BLCA 1 16269033 16269033 + Nonsense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 g.chr1:16269033G>A c.2029C>T c.(2029-2031)Cag>Tag p.Q677* BLCA 1 16269047 16269047 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 g.chr1:16269047G>A c.2015C>T c.(2014-2016)gCg>gTg p.A672V BLCA 1 16269163 16269163 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:16269163C>T c.1899G>A c.(1897-1899)gtG>gtA p.V633V BLCA 1 16269565 16269565 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr1:16269565G>A c.1822C>T c.(1822-1824)Cac>Tac p.H608Y BLCA 1 16269661 16269661 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:16269661G>A c.1726C>T c.(1726-1728)Cat>Tat p.H576Y BLCA 1 16270340 16270340 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr1:16270340G>A c.1422C>T c.(1420-1422)ctC>ctT p.L474L BLCA 1 16271205 16271205 + Missense_Mutation SNP C C G TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr1:16271205C>G c.1057G>C c.(1057-1059)Gag>Cag p.E353Q BLCA 1 16272308 16272308 + Missense_Mutation SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 g.chr1:16272308G>A c.563C>T c.(562-564)gCg>gTg p.A188V BLCA 1 16274863 16274863 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 g.chr1:16274863G>A c.128C>T c.(127-129)gCg>gTg p.A43V BRCA 1 16269183 16269183 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:16269183C>G c.1879G>C c.(1879-1881)Gac>Cac p.D627H BRCA 1 16271073 16271073 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:16271073C>T c.1093G>A c.(1093-1095)Gag>Aag p.E365K BRCA 1 16271688 16271688 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr1:16271688A>C c.671T>G c.(670-672)gTg>gGg p.V224G BRCA 1 16272250 16272250 + Silent SNP A A C TCGA-A8-A07C-01A-11D-A045-09 TCGA-A8-A07C-10A-01W-A055-09 g.chr1:16272250A>C c.621T>G c.(619-621)gcT>gcG p.A207A BRCA 1 16274922 16274922 + Silent SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr1:16274922G>C c.69C>G c.(67-69)ctC>ctG p.L23L CESC 1 16268529 16268529 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:16268529C>T c.2347G>A c.(2347-2349)Gag>Aag p.E783K CESC 1 16268666 16268666 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 g.chr1:16268666C>T c.2210G>A c.(2209-2211)cGa>cAa p.R737Q CESC 1 16269081 16269081 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:16269081C>T c.1981G>A c.(1981-1983)Gac>Aac p.D661N CESC 1 16269105 16269105 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:16269105C>T c.1957G>A c.(1957-1959)Gag>Aag p.E653K CESC 1 16269117 16269117 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:16269117C>T c.1945G>A c.(1945-1947)Gag>Aag p.E649K CESC 1 16269231 16269231 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:16269231C>G c.1831G>C c.(1831-1833)Gag>Cag p.E611Q CESC 1 16270203 16270203 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:16270203C>T c.1467G>A c.(1465-1467)ctG>ctA p.L489L CESC 1 16270867 16270867 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:16270867C>G c.1299G>C c.(1297-1299)aaG>aaC p.K433N CESC 1 16271564 16271564 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:16271564C>T c.795G>A c.(793-795)gaG>gaA p.E265E CESC 1 16271600 16271600 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:16271600C>T c.759G>A c.(757-759)gaG>gaA p.E253E CESC 1 16271638 16271638 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:16271638C>G c.721G>C c.(721-723)Gag>Cag p.E241Q CESC 1 16271698 16271698 + Splice_Site SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chr1:16271698C>T c.e7-1 CESC 1 16272682 16272682 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr1:16272682C>G c.502G>C c.(502-504)Gag>Cag p.E168Q CESC 1 16274987 16274987 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:16274987C>A c.4G>T c.(4-6)Gac>Tac p.D2Y COAD 1 16268826 16268828 + Splice_Site DEL CTT CTT - TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:16268826_16268828delCTT c.2126_2128delAAG c.(2125-2130)gaagac>gac p.E709del COAD 1 16269106 16269106 + Silent SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:16269106A>G c.1956T>C c.(1954-1956)agT>agC p.S652S COAD 1 16269595 16269595 + Missense_Mutation SNP C C A TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr1:16269595C>A c.1792G>T c.(1792-1794)Gtg>Ttg p.V598L COAD 1 16271538 16271538 + Missense_Mutation SNP G G C TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr1:16271538G>C c.821C>G c.(820-822)aCa>aGa p.T274R COAD 1 16272313 16272313 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:16272313G>A c.558C>T c.(556-558)gcC>gcT p.A186A COADREAD 1 16268826 16268828 + Splice_Site DEL CTT CTT - TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:16268826_16268828delCTT c.2126_2128delAAG c.(2125-2130)gaagac>gac p.E709del COADREAD 1 16269106 16269106 + Silent SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:16269106A>G c.1956T>C c.(1954-1956)agT>agC p.S652S COADREAD 1 16269595 16269595 + Missense_Mutation SNP C C A TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr1:16269595C>A c.1792G>T c.(1792-1794)Gtg>Ttg p.V598L COADREAD 1 16271538 16271538 + Missense_Mutation SNP G G C TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr1:16271538G>C c.821C>G c.(820-822)aCa>aGa p.T274R COADREAD 1 16272313 16272313 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:16272313G>A c.558C>T c.(556-558)gcC>gcT p.A186A COADREAD 1 16273537 16273537 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr1:16273537G>A c.287C>T c.(286-288)gCc>gTc p.A96V COADREAD 1 16274899 16274899 + Missense_Mutation SNP T T C TCGA-DC-6157-01A-11D-1657-10 TCGA-DC-6157-10A-01D-1657-10 g.chr1:16274899T>C c.92A>G c.(91-93)gAc>gGc p.D31G DLBC 1 16272337 16272337 + Splice_Site SNP T T A TCGA-FA-8693-01A-11D-2397-10 TCGA-FA-8693-10A-01D-2397-10 g.chr1:16272337T>A c.e6-2 ESCA 1 16269652 16269652 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr1:16269652G>A c.1735C>T c.(1735-1737)Cac>Tac p.H579Y ESCA 1 16269989 16269989 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 g.chr1:16269989C>T c.1602G>A c.(1600-1602)atG>atA p.M534I ESCA 1 16271287 16271287 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 g.chr1:16271287G>A c.975C>T c.(973-975)atC>atT p.I325I ESCA 1 16274893 16274893 + Missense_Mutation SNP A A G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 g.chr1:16274893A>G c.98T>C c.(97-99)gTt>gCt p.V33A GBM 1 16268633 16268633 + Missense_Mutation SNP T T C TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 g.chr1:16268633T>C c.2243A>G c.(2242-2244)cAg>cGg p.Q748R GBMLGG 1 16268633 16268633 + Missense_Mutation SNP T T C TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 g.chr1:16268633T>C c.2243A>G c.(2242-2244)cAg>cGg p.Q748R GBMLGG 1 16272784 16272784 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:16272784C>T c.400G>A c.(400-402)Gac>Aac p.D134N HNSC 1 16268624 16268624 + Missense_Mutation SNP G G T TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr1:16268624G>T c.2252C>A c.(2251-2253)gCg>gAg p.A751E HNSC 1 16270105 16270105 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 g.chr1:16270105C>T c.1565G>A c.(1564-1566)cGc>cAc p.R522H HNSC 1 16272657 16272657 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 g.chr1:16272657G>A c.527C>T c.(526-528)gCg>gTg p.A176V HNSC 1 16273491 16273491 + Silent SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 g.chr1:16273491G>C c.333C>G c.(331-333)ctC>ctG p.L111L KICH 1 16268583 16268583 + Missense_Mutation SNP C C T TCGA-KL-8328-01A-11D-2310-10 TCGA-KL-8328-11A-01D-2310-10 g.chr1:16268583C>T c.2293G>A c.(2293-2295)Gcc>Acc p.A765T KIPAN 1 16268583 16268583 + Missense_Mutation SNP C C T TCGA-KL-8328-01A-11D-2310-10 TCGA-KL-8328-11A-01D-2310-10 g.chr1:16268583C>T c.2293G>A c.(2293-2295)Gcc>Acc p.A765T LGG 1 16272784 16272784 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:16272784C>T c.400G>A c.(400-402)Gac>Aac p.D134N LIHC 1 16270914 16270914 + Missense_Mutation SNP A A G TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr1:16270914A>G c.1252T>C c.(1252-1254)Tac>Cac p.Y418H LIHC 1 16271291 16271291 + Missense_Mutation SNP T T G TCGA-DD-AACP-01A-11D-A40R-10 TCGA-DD-AACP-10A-01D-A40U-10 g.chr1:16271291T>G c.971A>C c.(970-972)cAc>cCc p.H324P LIHC 1 16271442 16271442 + Missense_Mutation SNP T T C TCGA-DD-AAW1-01A-11D-A40P-10 TCGA-DD-AAW1-10A-01D-A40P-10 g.chr1:16271442T>C c.917A>G c.(916-918)cAc>cGc p.H306R LUAD 1 16268580 16268580 + Missense_Mutation SNP C C A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr1:16268580C>A c.2296G>T c.(2296-2298)Ggg>Tgg p.G766W LUAD 1 16268907 16268907 + Missense_Mutation SNP C C T TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr1:16268907C>T c.2047G>A c.(2047-2049)Gtg>Atg p.V683M LUAD 1 16269620 16269620 + Silent SNP G G A TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr1:16269620G>A c.1767C>T c.(1765-1767)agC>agT p.S589S LUAD 1 16270342 16270342 + Missense_Mutation SNP G G A TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr1:16270342G>A c.1420C>T c.(1420-1422)Ctc>Ttc p.L474F LUAD 1 16272689 16272689 + Silent SNP G G A TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr1:16272689G>A c.495C>T c.(493-495)ctC>ctT p.L165L LUSC 1 16269916 16269916 + Missense_Mutation SNP C C T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr1:16269916C>T c.1675G>A c.(1675-1677)Gtc>Atc p.V559I PAAD 1 16269204 16269204 + Missense_Mutation SNP C C A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 g.chr1:16269204C>A c.1858G>T c.(1858-1860)Ggg>Tgg p.G620W PRAD 1 16269097 16269097 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:16269097G>A c.1965C>T c.(1963-1965)agC>agT p.S655S PRAD 1 16270144 16270144 + Missense_Mutation SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr1:16270144C>T c.1526G>A c.(1525-1527)cGa>cAa p.R509Q PRAD 1 16272237 16272237 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:16272237C>T c.634G>A c.(634-636)Gcc>Acc p.A212T PRAD 1 16274882 16274882 + Missense_Mutation SNP C C A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 g.chr1:16274882C>A c.109G>T c.(109-111)Gct>Tct p.A37S READ 1 16273537 16273537 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr1:16273537G>A c.287C>T c.(286-288)gCc>gTc p.A96V READ 1 16274899 16274899 + Missense_Mutation SNP T T C TCGA-DC-6157-01A-11D-1657-10 TCGA-DC-6157-10A-01D-1657-10 g.chr1:16274899T>C c.92A>G c.(91-93)gAc>gGc p.D31G SKCM 1 16268534 16268534 + Missense_Mutation SNP C C T TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr1:16268534C>T c.2342G>A c.(2341-2343)gGg>gAg p.G781E SKCM 1 16268535 16268535 + Missense_Mutation SNP C C T TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr1:16268535C>T c.2341G>A c.(2341-2343)Ggg>Agg p.G781R SKCM 1 16270310 16270310 + Silent SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr1:16270310G>A c.1452C>T c.(1450-1452)acC>acT p.T484T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 16264332 16264332 single base substitution T G downstream_gene_variant BLCA-CN 1 16272250 16272250 single base substitution A G downstream_gene_variant BLCA-CN 1 16272250 16272250 single base substitution A G exon_variant BLCA-CN 1 16272250 16272250 single base substitution A G synonymous_variant A125A 375T>C BLCA-CN 1 16272250 16272250 single base substitution A G synonymous_variant A144A 432T>C BLCA-CN 1 16272250 16272250 single base substitution A G synonymous_variant A207A 621T>C BLCA-CN 1 16272250 16272250 single base substitution A G upstream_gene_variant BLCA-US 1 16265833 16265833 single base substitution G A downstream_gene_variant BLCA-US 1 16265886 16265886 single base substitution C T downstream_gene_variant BLCA-US 1 16265921 16265921 single base substitution G A downstream_gene_variant BLCA-US 1 16269163 16269163 single base substitution C T downstream_gene_variant BLCA-US 1 16269163 16269163 single base substitution C T exon_variant BLCA-US 1 16269163 16269163 single base substitution C T synonymous_variant V189V 567G>A BLCA-US 1 16269163 16269163 single base substitution C T synonymous_variant V32V 96G>A BLCA-US 1 16269163 16269163 single base substitution C T synonymous_variant V551V 1653G>A BLCA-US 1 16269163 16269163 single base substitution C T synonymous_variant V633V 1899G>A BLCA-US 1 16269661 16269661 single base substitution G A downstream_gene_variant BLCA-US 1 16269661 16269661 single base substitution G A exon_variant BLCA-US 1 16269661 16269661 single base substitution G A missense_variant H132Y 394C>T BLCA-US 1 16269661 16269661 single base substitution G A missense_variant H494Y 1480C>T BLCA-US 1 16269661 16269661 single base substitution G A missense_variant H576Y 1726C>T BLCA-US 1 16269661 16269661 single base substitution G A upstream_gene_variant BRCA-EU 1 16263497 16263497 single base substitution C G downstream_gene_variant BRCA-EU 1 16263681 16263681 single base substitution C G downstream_gene_variant BRCA-EU 1 16265448 16265448 single base substitution G C downstream_gene_variant BRCA-EU 1 16265933 16265933 deletion of <=200bp G - downstream_gene_variant BRCA-EU 1 16267969 16267969 single base substitution C G downstream_gene_variant BRCA-EU 1 16269121 16269121 single base substitution C T downstream_gene_variant BRCA-EU 1 16269121 16269121 single base substitution C T exon_variant BRCA-EU 1 16269121 16269121 single base substitution C T synonymous_variant E203E 609G>A BRCA-EU 1 16269121 16269121 single base substitution C T synonymous_variant E46E 138G>A BRCA-EU 1 16269121 16269121 single base substitution C T synonymous_variant E565E 1695G>A BRCA-EU 1 16269121 16269121 single base substitution C T synonymous_variant E647E 1941G>A BRCA-EU 1 16269478 16269478 single base substitution G T downstream_gene_variant BRCA-EU 1 16269478 16269478 single base substitution G T intron_variant BRCA-EU 1 16269478 16269478 single base substitution G T upstream_gene_variant BRCA-EU 1 16269685 16269685 single base substitution C G downstream_gene_variant BRCA-EU 1 16269685 16269685 single base substitution C G exon_variant BRCA-EU 1 16269685 16269685 single base substitution C G missense_variant V124L 370G>C BRCA-EU 1 16269685 16269685 single base substitution C G missense_variant V486L 1456G>C BRCA-EU 1 16269685 16269685 single base substitution C G missense_variant V568L 1702G>C BRCA-EU 1 16269685 16269685 single base substitution C G upstream_gene_variant BRCA-EU 1 16270995 16270995 single base substitution G A downstream_gene_variant BRCA-EU 1 16270995 16270995 single base substitution G A exon_variant BRCA-EU 1 16270995 16270995 single base substitution G A missense_variant R309C 925C>T BRCA-EU 1 16270995 16270995 single base substitution G A missense_variant R328C 982C>T BRCA-EU 1 16270995 16270995 single base substitution G A missense_variant R391C 1171C>T BRCA-EU 1 16270995 16270995 single base substitution G A upstream_gene_variant BRCA-EU 1 16273789 16273789 single base substitution G C intron_variant BRCA-EU 1 16273789 16273789 single base substitution G C upstream_gene_variant BRCA-EU 1 16273812 16273812 single base substitution G C intron_variant BRCA-EU 1 16273812 16273812 single base substitution G C upstream_gene_variant BRCA-EU 1 16273939 16273939 single base substitution G A intron_variant BRCA-EU 1 16273939 16273939 single base substitution G A upstream_gene_variant BRCA-EU 1 16274175 16274175 single base substitution G C intron_variant BRCA-EU 1 16274175 16274175 single base substitution G C upstream_gene_variant BRCA-EU 1 16274949 16274949 single base substitution C G exon_variant BRCA-EU 1 16274949 16274949 single base substitution C G intron_variant BRCA-EU 1 16274949 16274949 single base substitution C G synonymous_variant L14L 42G>C BRCA-EU 1 16274949 16274949 single base substitution C G upstream_gene_variant BRCA-EU 1 16277227 16277227 single base substitution G A intron_variant BRCA-EU 1 16277227 16277227 single base substitution G A upstream_gene_variant BRCA-EU 1 16277390 16277390 single base substitution G A intron_variant BRCA-EU 1 16277390 16277390 single base substitution G A upstream_gene_variant BRCA-EU 1 16277699 16277699 single base substitution G A intron_variant BRCA-EU 1 16277699 16277699 single base substitution G A upstream_gene_variant BRCA-EU 1 16277762 16277762 single base substitution G A intron_variant BRCA-EU 1 16277762 16277762 single base substitution G A upstream_gene_variant BRCA-EU 1 16277925 16277925 single base substitution C T intron_variant BRCA-EU 1 16277925 16277925 single base substitution C T upstream_gene_variant BRCA-EU 1 16279440 16279440 single base substitution C T exon_variant BRCA-EU 1 16279440 16279440 single base substitution C T intron_variant BRCA-EU 1 16279604 16279604 single base substitution T C intron_variant BRCA-EU 1 16279604 16279604 single base substitution T C upstream_gene_variant BRCA-EU 1 16280445 16280445 single base substitution T G intron_variant BRCA-EU 1 16280445 16280445 single base substitution T G upstream_gene_variant BRCA-EU 1 16281368 16281368 single base substitution G A intron_variant BRCA-EU 1 16281368 16281368 single base substitution G A upstream_gene_variant BRCA-EU 1 16282247 16282247 single base substitution G C intron_variant BRCA-EU 1 16282247 16282247 single base substitution G C upstream_gene_variant BRCA-EU 1 16286571 16286571 single base substitution C T intron_variant BRCA-EU 1 16286605 16286605 single base substitution C A intron_variant BRCA-EU 1 16286645 16286645 single base substitution C T intron_variant BRCA-EU 1 16287515 16287515 single base substitution G A intron_variant BRCA-EU 1 16288894 16288894 single base substitution A G intron_variant BRCA-EU 1 16289262 16289262 single base substitution A T intron_variant BRCA-EU 1 16291304 16291304 single base substitution C G intron_variant BRCA-EU 1 16291674 16291674 single base substitution A C intron_variant BRCA-EU 1 16292251 16292251 single base substitution G A intron_variant BRCA-EU 1 16294919 16294919 single base substitution G C intron_variant BRCA-EU 1 16298125 16298125 single base substitution G A intron_variant BRCA-EU 1 16298154 16298154 single base substitution G T intron_variant BRCA-EU 1 16300188 16300188 single base substitution G C intron_variant BRCA-EU 1 16301543 16301543 single base substitution G A intron_variant BRCA-EU 1 16301732 16301732 single base substitution T G intron_variant BRCA-EU 1 16303165 16303165 single base substitution G T upstream_gene_variant BRCA-EU 1 16304719 16304719 single base substitution G C upstream_gene_variant BRCA-EU 1 16305263 16305263 single base substitution A T upstream_gene_variant BRCA-EU 1 16306141 16306141 single base substitution T A upstream_gene_variant BRCA-EU 1 16306257 16306257 single base substitution G A upstream_gene_variant BRCA-EU 1 16306802 16306802 single base substitution C T upstream_gene_variant BRCA-FR 1 16274175 16274175 single base substitution G C intron_variant BRCA-FR 1 16274175 16274175 single base substitution G C upstream_gene_variant BRCA-FR 1 16292529 16292529 single base substitution C A intron_variant BRCA-FR 1 16306141 16306141 single base substitution T A upstream_gene_variant BRCA-KR 1 16264382 16264382 single base substitution G T downstream_gene_variant BRCA-KR 1 16302549 16302549 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-KR 1 16302549 16302549 single base substitution G A exon_variant BRCA-UK 1 16272280 16272280 single base substitution G C downstream_gene_variant BRCA-UK 1 16272280 16272280 single base substitution G C exon_variant BRCA-UK 1 16272280 16272280 single base substitution G C synonymous_variant L115L 345C>G BRCA-UK 1 16272280 16272280 single base substitution G C synonymous_variant L134L 402C>G BRCA-UK 1 16272280 16272280 single base substitution G C synonymous_variant L197L 591C>G BRCA-UK 1 16272280 16272280 single base substitution G C upstream_gene_variant BRCA-UK 1 16283940 16283940 single base substitution A G intron_variant BRCA-UK 1 16283940 16283940 single base substitution A G upstream_gene_variant BRCA-UK 1 16283942 16283942 single base substitution C G intron_variant BRCA-UK 1 16283942 16283942 single base substitution C G upstream_gene_variant BRCA-US 1 16263797 16263797 single base substitution C G downstream_gene_variant BRCA-US 1 16265817 16265817 single base substitution G T downstream_gene_variant BRCA-US 1 16265833 16265834 deletion of <=200bp GA - downstream_gene_variant BRCA-US 1 16265894 16265894 single base substitution A C downstream_gene_variant BRCA-US 1 16269183 16269183 single base substitution C G downstream_gene_variant BRCA-US 1 16269183 16269183 single base substitution C G exon_variant BRCA-US 1 16269183 16269183 single base substitution C G missense_variant D183H 547G>C BRCA-US 1 16269183 16269183 single base substitution C G missense_variant D26H 76G>C BRCA-US 1 16269183 16269183 single base substitution C G missense_variant D545H 1633G>C BRCA-US 1 16269183 16269183 single base substitution C G missense_variant D627H 1879G>C BRCA-US 1 16270685 16270685 single base substitution G A downstream_gene_variant BRCA-US 1 16270685 16270685 single base substitution G A exon_variant BRCA-US 1 16270685 16270685 single base substitution G A intron_variant BRCA-US 1 16270685 16270685 single base substitution G A missense_variant S431L 1292C>T BRCA-US 1 16270685 16270685 single base substitution G A upstream_gene_variant BRCA-US 1 16271073 16271073 single base substitution C T downstream_gene_variant BRCA-US 1 16271073 16271073 single base substitution C T exon_variant BRCA-US 1 16271073 16271073 single base substitution C T missense_variant E283K 847G>A BRCA-US 1 16271073 16271073 single base substitution C T missense_variant E302K 904G>A BRCA-US 1 16271073 16271073 single base substitution C T missense_variant E365K 1093G>A BRCA-US 1 16271073 16271073 single base substitution C T upstream_gene_variant BRCA-US 1 16271688 16271688 single base substitution A C downstream_gene_variant BRCA-US 1 16271688 16271688 single base substitution A C exon_variant BRCA-US 1 16271688 16271688 single base substitution A C missense_variant V142G 425T>G BRCA-US 1 16271688 16271688 single base substitution A C missense_variant V161G 482T>G BRCA-US 1 16271688 16271688 single base substitution A C missense_variant V224G 671T>G BRCA-US 1 16271688 16271688 single base substitution A C upstream_gene_variant BRCA-US 1 16272250 16272250 single base substitution A C downstream_gene_variant BRCA-US 1 16272250 16272250 single base substitution A C exon_variant BRCA-US 1 16272250 16272250 single base substitution A C synonymous_variant A125A 375T>G BRCA-US 1 16272250 16272250 single base substitution A C synonymous_variant A144A 432T>G BRCA-US 1 16272250 16272250 single base substitution A C synonymous_variant A207A 621T>G BRCA-US 1 16272250 16272250 single base substitution A C upstream_gene_variant BRCA-US 1 16274922 16274922 single base substitution G C exon_variant BRCA-US 1 16274922 16274922 single base substitution G C intron_variant BRCA-US 1 16274922 16274922 single base substitution G C synonymous_variant L23L 69C>G BRCA-US 1 16274922 16274922 single base substitution G C upstream_gene_variant BTCA-JP 1 16269267 16269267 single base substitution G T downstream_gene_variant BTCA-JP 1 16269267 16269267 single base substitution G T exon_variant BTCA-JP 1 16269267 16269267 single base substitution G T intron_variant BTCA-JP 1 16269267 16269267 single base substitution G T upstream_gene_variant BTCA-JP 1 16270251 16270251 single base substitution C T downstream_gene_variant BTCA-JP 1 16270251 16270251 single base substitution C T exon_variant BTCA-JP 1 16270251 16270251 single base substitution C T intron_variant BTCA-JP 1 16270251 16270251 single base substitution C T upstream_gene_variant BTCA-JP 1 16270411 16270411 deletion of <=200bp G - 3_prime_UTR_variant BTCA-JP 1 16270411 16270411 deletion of <=200bp G - downstream_gene_variant BTCA-JP 1 16270411 16270411 deletion of <=200bp G - exon_variant BTCA-JP 1 16270411 16270411 deletion of <=200bp G - intron_variant BTCA-JP 1 16270411 16270411 deletion of <=200bp G - upstream_gene_variant BTCA-JP 1 16271518 16271518 single base substitution C T downstream_gene_variant BTCA-JP 1 16271518 16271518 single base substitution C T exon_variant BTCA-JP 1 16271518 16271518 single base substitution C T missense_variant G199S 595G>A BTCA-JP 1 16271518 16271518 single base substitution C T missense_variant G218S 652G>A BTCA-JP 1 16271518 16271518 single base substitution C T missense_variant G281S 841G>A BTCA-JP 1 16271518 16271518 single base substitution C T upstream_gene_variant BTCA-JP 1 16273578 16273578 single base substitution C A 5_prime_UTR_variant BTCA-JP 1 16273578 16273578 single base substitution C A exon_variant BTCA-JP 1 16273578 16273578 single base substitution C A intron_variant BTCA-JP 1 16273578 16273578 single base substitution C A synonymous_variant L82L 246G>T BTCA-JP 1 16273578 16273578 single base substitution C A upstream_gene_variant CESC-US 1 16264463 16264463 single base substitution G A downstream_gene_variant CESC-US 1 16268388 16268388 single base substitution C G 3_prime_UTR_variant CESC-US 1 16268388 16268388 single base substitution C G downstream_gene_variant CESC-US 1 16268388 16268388 single base substitution C G exon_variant CESC-US 1 16268529 16268529 single base substitution C T downstream_gene_variant CESC-US 1 16268529 16268529 single base substitution C T exon_variant CESC-US 1 16268529 16268529 single base substitution C T missense_variant E189K 565G>A CESC-US 1 16268529 16268529 single base substitution C T missense_variant E701K 2101G>A CESC-US 1 16268529 16268529 single base substitution C T missense_variant E783K 2347G>A CESC-US 1 16268529 16268529 single base substitution C T missense_variant E790K 2368G>A CESC-US 1 16268666 16268666 single base substitution C T downstream_gene_variant CESC-US 1 16268666 16268666 single base substitution C T exon_variant CESC-US 1 16268666 16268666 single base substitution C T missense_variant R143Q 428G>A CESC-US 1 16268666 16268666 single base substitution C T missense_variant R655Q 1964G>A CESC-US 1 16268666 16268666 single base substitution C T missense_variant R737Q 2210G>A CESC-US 1 16268666 16268666 single base substitution C T missense_variant R744Q 2231G>A CESC-US 1 16269081 16269081 single base substitution C T downstream_gene_variant CESC-US 1 16269081 16269081 single base substitution C T exon_variant CESC-US 1 16269081 16269081 single base substitution C T missense_variant D217N 649G>A CESC-US 1 16269081 16269081 single base substitution C T missense_variant D579N 1735G>A CESC-US 1 16269081 16269081 single base substitution C T missense_variant D60N 178G>A CESC-US 1 16269081 16269081 single base substitution C T missense_variant D661N 1981G>A CESC-US 1 16269105 16269105 single base substitution C T downstream_gene_variant CESC-US 1 16269105 16269105 single base substitution C T exon_variant CESC-US 1 16269105 16269105 single base substitution C T missense_variant E209K 625G>A CESC-US 1 16269105 16269105 single base substitution C T missense_variant E52K 154G>A CESC-US 1 16269105 16269105 single base substitution C T missense_variant E571K 1711G>A CESC-US 1 16269105 16269105 single base substitution C T missense_variant E653K 1957G>A CESC-US 1 16269117 16269117 single base substitution C T downstream_gene_variant CESC-US 1 16269117 16269117 single base substitution C T exon_variant CESC-US 1 16269117 16269117 single base substitution C T missense_variant E205K 613G>A CESC-US 1 16269117 16269117 single base substitution C T missense_variant E48K 142G>A CESC-US 1 16269117 16269117 single base substitution C T missense_variant E567K 1699G>A CESC-US 1 16269117 16269117 single base substitution C T missense_variant E649K 1945G>A CESC-US 1 16269231 16269231 single base substitution C G downstream_gene_variant CESC-US 1 16269231 16269231 single base substitution C G missense_variant E10Q 28G>C CESC-US 1 16269231 16269231 single base substitution C G missense_variant E167Q 499G>C CESC-US 1 16269231 16269231 single base substitution C G missense_variant E529Q 1585G>C CESC-US 1 16269231 16269231 single base substitution C G missense_variant E611Q 1831G>C CESC-US 1 16269231 16269231 single base substitution C G upstream_gene_variant CESC-US 1 16269299 16269299 single base substitution C T downstream_gene_variant CESC-US 1 16269299 16269299 single base substitution C T exon_variant CESC-US 1 16269299 16269299 single base substitution C T intron_variant CESC-US 1 16269299 16269299 single base substitution C T upstream_gene_variant CESC-US 1 16270203 16270203 single base substitution C T downstream_gene_variant CESC-US 1 16270203 16270203 single base substitution C T exon_variant CESC-US 1 16270203 16270203 single base substitution C T synonymous_variant L407L 1221G>A CESC-US 1 16270203 16270203 single base substitution C T synonymous_variant L45L 135G>A CESC-US 1 16270203 16270203 single base substitution C T synonymous_variant L489L 1467G>A CESC-US 1 16270203 16270203 single base substitution C T upstream_gene_variant CESC-US 1 16270867 16270867 single base substitution C G downstream_gene_variant CESC-US 1 16270867 16270867 single base substitution C G exon_variant CESC-US 1 16270867 16270867 single base substitution C G missense_variant D19H 55G>C CESC-US 1 16270867 16270867 single base substitution C G missense_variant K351N 1053G>C CESC-US 1 16270867 16270867 single base substitution C G missense_variant K370N 1110G>C CESC-US 1 16270867 16270867 single base substitution C G missense_variant K433N 1299G>C CESC-US 1 16270867 16270867 single base substitution C G upstream_gene_variant CESC-US 1 16271564 16271564 single base substitution C T downstream_gene_variant CESC-US 1 16271564 16271564 single base substitution C T exon_variant CESC-US 1 16271564 16271564 single base substitution C T synonymous_variant E183E 549G>A CESC-US 1 16271564 16271564 single base substitution C T synonymous_variant E202E 606G>A CESC-US 1 16271564 16271564 single base substitution C T synonymous_variant E265E 795G>A CESC-US 1 16271564 16271564 single base substitution C T upstream_gene_variant CESC-US 1 16271600 16271600 single base substitution C T downstream_gene_variant CESC-US 1 16271600 16271600 single base substitution C T exon_variant CESC-US 1 16271600 16271600 single base substitution C T synonymous_variant E171E 513G>A CESC-US 1 16271600 16271600 single base substitution C T synonymous_variant E190E 570G>A CESC-US 1 16271600 16271600 single base substitution C T synonymous_variant E253E 759G>A CESC-US 1 16271600 16271600 single base substitution C T upstream_gene_variant CESC-US 1 16271638 16271638 single base substitution C G downstream_gene_variant CESC-US 1 16271638 16271638 single base substitution C G exon_variant CESC-US 1 16271638 16271638 single base substitution C G missense_variant E159Q 475G>C CESC-US 1 16271638 16271638 single base substitution C G missense_variant E178Q 532G>C CESC-US 1 16271638 16271638 single base substitution C G missense_variant E241Q 721G>C CESC-US 1 16271638 16271638 single base substitution C G upstream_gene_variant CESC-US 1 16271698 16271698 single base substitution C T downstream_gene_variant CESC-US 1 16271698 16271698 single base substitution C T splice_acceptor_variant CESC-US 1 16271698 16271698 single base substitution C T upstream_gene_variant CESC-US 1 16272374 16272374 single base substitution C T downstream_gene_variant CESC-US 1 16272374 16272374 single base substitution C T exon_variant CESC-US 1 16272374 16272374 single base substitution C T intron_variant CESC-US 1 16272374 16272374 single base substitution C T upstream_gene_variant CESC-US 1 16272682 16272682 single base substitution C G exon_variant CESC-US 1 16272682 16272682 single base substitution C G missense_variant E105Q 313G>C CESC-US 1 16272682 16272682 single base substitution C G missense_variant E168Q 502G>C CESC-US 1 16272682 16272682 single base substitution C G missense_variant E86Q 256G>C CESC-US 1 16272682 16272682 single base substitution C G upstream_gene_variant CESC-US 1 16274987 16274987 single base substitution C A exon_variant CESC-US 1 16274987 16274987 single base substitution C A intron_variant CESC-US 1 16274987 16274987 single base substitution C A missense_variant D2Y 4G>T CESC-US 1 16274987 16274987 single base substitution C A upstream_gene_variant CLLE-ES 1 16265840 16265840 single base substitution A C downstream_gene_variant CLLE-ES 1 16270349 16270349 single base substitution G A 3_prime_UTR_variant CLLE-ES 1 16270349 16270349 single base substitution G A downstream_gene_variant CLLE-ES 1 16270349 16270349 single base substitution G A exon_variant CLLE-ES 1 16270349 16270349 single base substitution G A intron_variant CLLE-ES 1 16270349 16270349 single base substitution G A synonymous_variant D389D 1167C>T CLLE-ES 1 16270349 16270349 single base substitution G A synonymous_variant D471D 1413C>T CLLE-ES 1 16270349 16270349 single base substitution G A upstream_gene_variant CLLE-ES 1 16275531 16275531 single base substitution G T intron_variant CLLE-ES 1 16275531 16275531 single base substitution G T upstream_gene_variant CLLE-ES 1 16297857 16297857 single base substitution A C intron_variant COAD-US 1 16268826 16268828 deletion of <=200bp CTT - downstream_gene_variant COAD-US 1 16268826 16268828 deletion of <=200bp CTT - splice_region_variant COAD-US 1 16269106 16269106 single base substitution A G downstream_gene_variant COAD-US 1 16269106 16269106 single base substitution A G exon_variant COAD-US 1 16269106 16269106 single base substitution A G synonymous_variant S208S 624T>C COAD-US 1 16269106 16269106 single base substitution A G synonymous_variant S51S 153T>C COAD-US 1 16269106 16269106 single base substitution A G synonymous_variant S570S 1710T>C COAD-US 1 16269106 16269106 single base substitution A G synonymous_variant S652S 1956T>C COAD-US 1 16269595 16269595 single base substitution C A downstream_gene_variant COAD-US 1 16269595 16269595 single base substitution C A exon_variant COAD-US 1 16269595 16269595 single base substitution C A missense_variant V154L 460G>T COAD-US 1 16269595 16269595 single base substitution C A missense_variant V516L 1546G>T COAD-US 1 16269595 16269595 single base substitution C A missense_variant V598L 1792G>T COAD-US 1 16269595 16269595 single base substitution C A upstream_gene_variant COAD-US 1 16271538 16271538 single base substitution G C downstream_gene_variant COAD-US 1 16271538 16271538 single base substitution G C exon_variant COAD-US 1 16271538 16271538 single base substitution G C missense_variant T192R 575C>G COAD-US 1 16271538 16271538 single base substitution G C missense_variant T211R 632C>G COAD-US 1 16271538 16271538 single base substitution G C missense_variant T274R 821C>G COAD-US 1 16271538 16271538 single base substitution G C upstream_gene_variant COAD-US 1 16272313 16272313 single base substitution G A downstream_gene_variant COAD-US 1 16272313 16272313 single base substitution G A exon_variant COAD-US 1 16272313 16272313 single base substitution G A synonymous_variant A104A 312C>T COAD-US 1 16272313 16272313 single base substitution G A synonymous_variant A123A 369C>T COAD-US 1 16272313 16272313 single base substitution G A synonymous_variant A186A 558C>T COAD-US 1 16272313 16272313 single base substitution G A upstream_gene_variant COCA-CN 1 16263756 16263756 single base substitution T C downstream_gene_variant COCA-CN 1 16265284 16265284 single base substitution C T downstream_gene_variant COCA-CN 1 16268538 16268538 single base substitution C T downstream_gene_variant COCA-CN 1 16268538 16268538 single base substitution C T exon_variant COCA-CN 1 16268538 16268538 single base substitution C T missense_variant D186N 556G>A COCA-CN 1 16268538 16268538 single base substitution C T missense_variant D698N 2092G>A COCA-CN 1 16268538 16268538 single base substitution C T missense_variant D780N 2338G>A COCA-CN 1 16268538 16268538 single base substitution C T missense_variant D787N 2359G>A COCA-CN 1 16269201 16269201 single base substitution G A downstream_gene_variant COCA-CN 1 16269201 16269201 single base substitution G A exon_variant COCA-CN 1 16269201 16269201 single base substitution G A missense_variant R177C 529C>T COCA-CN 1 16269201 16269201 single base substitution G A missense_variant R20C 58C>T COCA-CN 1 16269201 16269201 single base substitution G A missense_variant R539C 1615C>T COCA-CN 1 16269201 16269201 single base substitution G A missense_variant R621C 1861C>T COCA-CN 1 16270230 16270230 single base substitution G A downstream_gene_variant COCA-CN 1 16270230 16270230 single base substitution G A exon_variant COCA-CN 1 16270230 16270230 single base substitution G A intron_variant COCA-CN 1 16270230 16270230 single base substitution G A upstream_gene_variant COCA-CN 1 16272677 16272677 single base substitution G A exon_variant COCA-CN 1 16272677 16272677 single base substitution G A synonymous_variant R106R 318C>T COCA-CN 1 16272677 16272677 single base substitution G A synonymous_variant R169R 507C>T COCA-CN 1 16272677 16272677 single base substitution G A synonymous_variant R87R 261C>T COCA-CN 1 16272677 16272677 single base substitution G A upstream_gene_variant COCA-CN 1 16275036 16275036 single base substitution C T intron_variant COCA-CN 1 16275036 16275036 single base substitution C T upstream_gene_variant EOPC-DE 1 16269492 16269492 single base substitution T G downstream_gene_variant EOPC-DE 1 16269492 16269492 single base substitution T G intron_variant EOPC-DE 1 16269492 16269492 single base substitution T G upstream_gene_variant EOPC-DE 1 16278945 16278945 single base substitution C T intron_variant ESAD-UK 1 16265526 16265526 single base substitution G A downstream_gene_variant ESAD-UK 1 16266069 16266069 single base substitution T C downstream_gene_variant ESAD-UK 1 16266281 16266281 single base substitution A G downstream_gene_variant ESAD-UK 1 16267079 16267079 single base substitution C T downstream_gene_variant ESAD-UK 1 16269511 16269511 single base substitution G T downstream_gene_variant ESAD-UK 1 16269511 16269511 single base substitution G T intron_variant ESAD-UK 1 16269511 16269511 single base substitution G T upstream_gene_variant ESAD-UK 1 16270979 16270979 single base substitution C T downstream_gene_variant ESAD-UK 1 16270979 16270979 single base substitution C T exon_variant ESAD-UK 1 16270979 16270979 single base substitution C T missense_variant G314D 941G>A ESAD-UK 1 16270979 16270979 single base substitution C T missense_variant G333D 998G>A ESAD-UK 1 16270979 16270979 single base substitution C T missense_variant G396D 1187G>A ESAD-UK 1 16270979 16270979 single base substitution C T upstream_gene_variant ESAD-UK 1 16271167 16271167 single base substitution G A downstream_gene_variant ESAD-UK 1 16271167 16271167 single base substitution G A intron_variant ESAD-UK 1 16271167 16271167 single base substitution G A upstream_gene_variant ESAD-UK 1 16271197 16271197 single base substitution C T downstream_gene_variant ESAD-UK 1 16271197 16271197 single base substitution C T exon_variant ESAD-UK 1 16271197 16271197 single base substitution C T synonymous_variant T273T 819G>A ESAD-UK 1 16271197 16271197 single base substitution C T synonymous_variant T292T 876G>A ESAD-UK 1 16271197 16271197 single base substitution C T synonymous_variant T355T 1065G>A ESAD-UK 1 16271197 16271197 single base substitution C T upstream_gene_variant ESAD-UK 1 16271314 16271314 single base substitution C T downstream_gene_variant ESAD-UK 1 16271314 16271314 single base substitution C T exon_variant ESAD-UK 1 16271314 16271314 single base substitution C T synonymous_variant T234T 702G>A ESAD-UK 1 16271314 16271314 single base substitution C T synonymous_variant T253T 759G>A ESAD-UK 1 16271314 16271314 single base substitution C T synonymous_variant T316T 948G>A ESAD-UK 1 16271314 16271314 single base substitution C T upstream_gene_variant ESAD-UK 1 16273188 16273188 single base substitution C T intron_variant ESAD-UK 1 16273188 16273188 single base substitution C T upstream_gene_variant ESAD-UK 1 16274906 16274906 single base substitution C A exon_variant ESAD-UK 1 16274906 16274906 single base substitution C A intron_variant ESAD-UK 1 16274906 16274906 single base substitution C A missense_variant V29L 85G>T ESAD-UK 1 16274906 16274906 single base substitution C A upstream_gene_variant ESAD-UK 1 16275203 16275203 single base substitution T C intron_variant ESAD-UK 1 16275203 16275203 single base substitution T C upstream_gene_variant ESAD-UK 1 16281995 16281995 single base substitution C G intron_variant ESAD-UK 1 16281995 16281995 single base substitution C G upstream_gene_variant ESAD-UK 1 16282989 16282989 single base substitution G C intron_variant ESAD-UK 1 16282989 16282989 single base substitution G C upstream_gene_variant ESAD-UK 1 16285150 16285150 single base substitution G A intron_variant ESAD-UK 1 16287795 16287795 single base substitution T C intron_variant ESAD-UK 1 16293313 16293313 single base substitution G A intron_variant ESAD-UK 1 16294248 16294248 single base substitution C T intron_variant ESAD-UK 1 16295579 16295579 single base substitution C T intron_variant ESAD-UK 1 16299148 16299148 single base substitution A C intron_variant ESAD-UK 1 16300400 16300400 single base substitution C T intron_variant ESAD-UK 1 16301416 16301416 single base substitution G A intron_variant ESAD-UK 1 16304097 16304097 single base substitution C A upstream_gene_variant ESAD-UK 1 16305357 16305357 single base substitution A G upstream_gene_variant ESAD-UK 1 16306141 16306141 single base substitution T A upstream_gene_variant ESCA-CN 1 16264318 16264318 single base substitution C T downstream_gene_variant ESCA-CN 1 16265904 16265904 single base substitution T A downstream_gene_variant ESCA-CN 1 16270862 16270862 single base substitution C T downstream_gene_variant ESCA-CN 1 16270862 16270862 single base substitution C T exon_variant ESCA-CN 1 16270862 16270862 single base substitution C T missense_variant R353H 1058G>A ESCA-CN 1 16270862 16270862 single base substitution C T missense_variant R372H 1115G>A ESCA-CN 1 16270862 16270862 single base substitution C T missense_variant R435H 1304G>A ESCA-CN 1 16270862 16270862 single base substitution C T synonymous_variant A20A 60G>A ESCA-CN 1 16270862 16270862 single base substitution C T upstream_gene_variant GBM-US 1 16268633 16268633 single base substitution T C downstream_gene_variant GBM-US 1 16268633 16268633 single base substitution T C exon_variant GBM-US 1 16268633 16268633 single base substitution T C missense_variant Q154R 461A>G GBM-US 1 16268633 16268633 single base substitution T C missense_variant Q666R 1997A>G GBM-US 1 16268633 16268633 single base substitution T C missense_variant Q748R 2243A>G GBM-US 1 16268633 16268633 single base substitution T C missense_variant Q755R 2264A>G LAML-KR 1 16272250 16272250 single base substitution A G downstream_gene_variant LAML-KR 1 16272250 16272250 single base substitution A G exon_variant LAML-KR 1 16272250 16272250 single base substitution A G synonymous_variant A125A 375T>C LAML-KR 1 16272250 16272250 single base substitution A G synonymous_variant A144A 432T>C LAML-KR 1 16272250 16272250 single base substitution A G synonymous_variant A207A 621T>C LAML-KR 1 16272250 16272250 single base substitution A G upstream_gene_variant LICA-CN 1 16272708 16272708 single base substitution A G exon_variant LICA-CN 1 16272708 16272708 single base substitution A G missense_variant I159T 476T>C LICA-CN 1 16272708 16272708 single base substitution A G missense_variant I77T 230T>C LICA-CN 1 16272708 16272708 single base substitution A G missense_variant I96T 287T>C LICA-CN 1 16272708 16272708 single base substitution A G upstream_gene_variant LICA-FR 1 16265061 16265061 deletion of <=200bp T - downstream_gene_variant LICA-FR 1 16269148 16269148 single base substitution C A downstream_gene_variant LICA-FR 1 16269148 16269148 single base substitution C A exon_variant LICA-FR 1 16269148 16269148 single base substitution C A missense_variant Q194H 582G>T LICA-FR 1 16269148 16269148 single base substitution C A missense_variant Q37H 111G>T LICA-FR 1 16269148 16269148 single base substitution C A missense_variant Q556H 1668G>T LICA-FR 1 16269148 16269148 single base substitution C A missense_variant Q638H 1914G>T LICA-FR 1 16283674 16283674 deletion of <=200bp A - intron_variant LICA-FR 1 16283674 16283674 deletion of <=200bp A - upstream_gene_variant LICA-FR 1 16284911 16284911 deletion of <=200bp A - intron_variant LICA-FR 1 16290590 16290590 single base substitution G C intron_variant LICA-FR 1 16305874 16305874 single base substitution G T upstream_gene_variant LINC-JP 1 16266123 16266123 single base substitution A G downstream_gene_variant LINC-JP 1 16268458 16268458 single base substitution G A 3_prime_UTR_variant LINC-JP 1 16268458 16268458 single base substitution G A downstream_gene_variant LINC-JP 1 16268458 16268458 single base substitution G A exon_variant LINC-JP 1 16270130 16270130 single base substitution G A downstream_gene_variant LINC-JP 1 16270130 16270130 single base substitution G A exon_variant LINC-JP 1 16270130 16270130 single base substitution G A missense_variant P432S 1294C>T LINC-JP 1 16270130 16270130 single base substitution G A missense_variant P514S 1540C>T LINC-JP 1 16270130 16270130 single base substitution G A missense_variant P70S 208C>T LINC-JP 1 16270130 16270130 single base substitution G A upstream_gene_variant LINC-JP 1 16284145 16284145 single base substitution A G intron_variant LINC-JP 1 16284145 16284145 single base substitution A G upstream_gene_variant LINC-JP 1 16297978 16297978 single base substitution T C intron_variant LINC-JP 1 16301081 16301081 single base substitution C T intron_variant LIRI-JP 1 16266056 16266056 single base substitution C T downstream_gene_variant LIRI-JP 1 16268624 16268624 single base substitution G C downstream_gene_variant LIRI-JP 1 16268624 16268624 single base substitution G C exon_variant LIRI-JP 1 16268624 16268624 single base substitution G C missense_variant A157G 470C>G LIRI-JP 1 16268624 16268624 single base substitution G C missense_variant A669G 2006C>G LIRI-JP 1 16268624 16268624 single base substitution G C missense_variant A751G 2252C>G LIRI-JP 1 16268624 16268624 single base substitution G C missense_variant A758G 2273C>G LIRI-JP 1 16268810 16268810 single base substitution G A downstream_gene_variant LIRI-JP 1 16268810 16268810 single base substitution G A intron_variant LIRI-JP 1 16270158 16270158 single base substitution G A downstream_gene_variant LIRI-JP 1 16270158 16270158 single base substitution G A exon_variant LIRI-JP 1 16270158 16270158 single base substitution G A synonymous_variant C422C 1266C>T LIRI-JP 1 16270158 16270158 single base substitution G A synonymous_variant C504C 1512C>T LIRI-JP 1 16270158 16270158 single base substitution G A synonymous_variant C60C 180C>T LIRI-JP 1 16270158 16270158 single base substitution G A upstream_gene_variant LIRI-JP 1 16270507 16270507 single base substitution C T downstream_gene_variant LIRI-JP 1 16270507 16270507 single base substitution C T exon_variant LIRI-JP 1 16270507 16270507 single base substitution C T intron_variant LIRI-JP 1 16270507 16270507 single base substitution C T synonymous_variant E490E 1470G>A LIRI-JP 1 16270507 16270507 single base substitution C T upstream_gene_variant LIRI-JP 1 16270543 16270543 single base substitution C T downstream_gene_variant LIRI-JP 1 16270543 16270543 single base substitution C T exon_variant LIRI-JP 1 16270543 16270543 single base substitution C T intron_variant LIRI-JP 1 16270543 16270543 single base substitution C T synonymous_variant L478L 1434G>A LIRI-JP 1 16270543 16270543 single base substitution C T upstream_gene_variant LIRI-JP 1 16271780 16271780 single base substitution A G downstream_gene_variant LIRI-JP 1 16271780 16271780 single base substitution A G intron_variant LIRI-JP 1 16271780 16271780 single base substitution A G upstream_gene_variant LIRI-JP 1 16272613 16272613 single base substitution C A exon_variant LIRI-JP 1 16272613 16272613 single base substitution C A intron_variant LIRI-JP 1 16272613 16272613 single base substitution C A upstream_gene_variant LIRI-JP 1 16274475 16274475 single base substitution A G intron_variant LIRI-JP 1 16274475 16274475 single base substitution A G upstream_gene_variant LIRI-JP 1 16275257 16275257 single base substitution G A intron_variant LIRI-JP 1 16275257 16275257 single base substitution G A upstream_gene_variant LIRI-JP 1 16276318 16276318 deletion of <=200bp C - intron_variant LIRI-JP 1 16276318 16276318 deletion of <=200bp C - upstream_gene_variant LIRI-JP 1 16279496 16279496 single base substitution T C intron_variant LIRI-JP 1 16279496 16279496 single base substitution T C upstream_gene_variant LIRI-JP 1 16284519 16284519 single base substitution G C intron_variant LIRI-JP 1 16286547 16286547 single base substitution A T intron_variant LIRI-JP 1 16287835 16287835 single base substitution T C intron_variant LIRI-JP 1 16288398 16288398 single base substitution T C intron_variant LIRI-JP 1 16290503 16290503 single base substitution T A intron_variant LIRI-JP 1 16293460 16293460 single base substitution A T intron_variant LIRI-JP 1 16296644 16296644 single base substitution T C intron_variant LIRI-JP 1 16300192 16300192 single base substitution C A intron_variant LIRI-JP 1 16302641 16302641 single base substitution G A upstream_gene_variant LIRI-JP 1 16304969 16304969 single base substitution T C upstream_gene_variant LIRI-JP 1 16305875 16305875 single base substitution G A upstream_gene_variant LUSC-KR 1 16271407 16271407 single base substitution G A downstream_gene_variant LUSC-KR 1 16271407 16271407 single base substitution G A intron_variant LUSC-KR 1 16271407 16271407 single base substitution G A upstream_gene_variant LUSC-KR 1 16278667 16278667 single base substitution G C intron_variant LUSC-KR 1 16278667 16278667 single base substitution G C upstream_gene_variant LUSC-KR 1 16283940 16283940 single base substitution A G intron_variant LUSC-KR 1 16283940 16283940 single base substitution A G upstream_gene_variant LUSC-KR 1 16283942 16283942 single base substitution C G intron_variant LUSC-KR 1 16283942 16283942 single base substitution C G upstream_gene_variant LUSC-KR 1 16287729 16287729 single base substitution A G intron_variant LUSC-KR 1 16297592 16297592 single base substitution G A intron_variant LUSC-KR 1 16297917 16297917 single base substitution T C intron_variant LUSC-KR 1 16299703 16299703 single base substitution A T intron_variant LUSC-KR 1 16306398 16306398 single base substitution G A upstream_gene_variant LUSC-US 1 16264403 16264403 single base substitution C G downstream_gene_variant LUSC-US 1 16269916 16269916 single base substitution C T downstream_gene_variant LUSC-US 1 16269916 16269916 single base substitution C T exon_variant LUSC-US 1 16269916 16269916 single base substitution C T missense_variant V115I 343G>A LUSC-US 1 16269916 16269916 single base substitution C T missense_variant V477I 1429G>A LUSC-US 1 16269916 16269916 single base substitution C T missense_variant V559I 1675G>A LUSC-US 1 16269916 16269916 single base substitution C T upstream_gene_variant MALY-DE 1 16264746 16264756 deletion of <=200bp GCACCACCATG - downstream_gene_variant MALY-DE 1 16268160 16268160 single base substitution T A downstream_gene_variant MALY-DE 1 16275658 16275658 single base substitution A G intron_variant MALY-DE 1 16275658 16275658 single base substitution A G upstream_gene_variant MALY-DE 1 16282051 16282051 single base substitution T C intron_variant MALY-DE 1 16282051 16282051 single base substitution T C upstream_gene_variant MALY-DE 1 16287854 16287854 single base substitution C T intron_variant MALY-DE 1 16302564 16302564 single base substitution G A 5_prime_UTR_variant MALY-DE 1 16302564 16302564 single base substitution G A exon_variant MELA-AU 1 16263484 16263484 single base substitution C T downstream_gene_variant MELA-AU 1 16263579 16263579 single base substitution C T downstream_gene_variant MELA-AU 1 16263920 16263920 single base substitution C T downstream_gene_variant MELA-AU 1 16264065 16264065 single base substitution C T downstream_gene_variant MELA-AU 1 16264375 16264375 single base substitution C T downstream_gene_variant MELA-AU 1 16264796 16264796 single base substitution A G downstream_gene_variant MELA-AU 1 16265266 16265266 single base substitution G A downstream_gene_variant MELA-AU 1 16266666 16266666 single base substitution C T downstream_gene_variant MELA-AU 1 16266706 16266706 single base substitution T A downstream_gene_variant MELA-AU 1 16267117 16267117 single base substitution T A downstream_gene_variant MELA-AU 1 16268008 16268008 single base substitution C T downstream_gene_variant MELA-AU 1 16269410 16269410 single base substitution G A downstream_gene_variant MELA-AU 1 16269410 16269410 single base substitution G A intron_variant MELA-AU 1 16269410 16269410 single base substitution G A upstream_gene_variant MELA-AU 1 16270437 16270438 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 1 16270437 16270438 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 16270437 16270438 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 16270437 16270438 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 16270437 16270438 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 16270439 16270439 single base substitution G A 3_prime_UTR_variant MELA-AU 1 16270439 16270439 single base substitution G A downstream_gene_variant MELA-AU 1 16270439 16270439 single base substitution G A exon_variant MELA-AU 1 16270439 16270439 single base substitution G A intron_variant MELA-AU 1 16270439 16270439 single base substitution G A upstream_gene_variant MELA-AU 1 16270521 16270521 single base substitution G A downstream_gene_variant MELA-AU 1 16270521 16270521 single base substitution G A exon_variant MELA-AU 1 16270521 16270521 single base substitution G A intron_variant MELA-AU 1 16270521 16270521 single base substitution G A missense_variant P486S 1456C>T MELA-AU 1 16270521 16270521 single base substitution G A upstream_gene_variant MELA-AU 1 16270590 16270590 single base substitution C T downstream_gene_variant MELA-AU 1 16270590 16270590 single base substitution C T exon_variant MELA-AU 1 16270590 16270590 single base substitution C T intron_variant MELA-AU 1 16270590 16270590 single base substitution C T missense_variant G463S 1387G>A MELA-AU 1 16270590 16270590 single base substitution C T upstream_gene_variant MELA-AU 1 16270963 16270963 single base substitution G A downstream_gene_variant MELA-AU 1 16270963 16270963 single base substitution G A exon_variant MELA-AU 1 16270963 16270963 single base substitution G A synonymous_variant T319T 957C>T MELA-AU 1 16270963 16270963 single base substitution G A synonymous_variant T338T 1014C>T MELA-AU 1 16270963 16270963 single base substitution G A synonymous_variant T401T 1203C>T MELA-AU 1 16270963 16270963 single base substitution G A upstream_gene_variant MELA-AU 1 16271743 16271743 single base substitution G A downstream_gene_variant MELA-AU 1 16271743 16271743 single base substitution G A intron_variant MELA-AU 1 16271743 16271743 single base substitution G A upstream_gene_variant MELA-AU 1 16271895 16271895 single base substitution G A downstream_gene_variant MELA-AU 1 16271895 16271895 single base substitution G A intron_variant MELA-AU 1 16271895 16271895 single base substitution G A upstream_gene_variant MELA-AU 1 16272032 16272032 single base substitution G A downstream_gene_variant MELA-AU 1 16272032 16272032 single base substitution G A intron_variant MELA-AU 1 16272032 16272032 single base substitution G A upstream_gene_variant MELA-AU 1 16272099 16272099 single base substitution C T downstream_gene_variant MELA-AU 1 16272099 16272099 single base substitution C T intron_variant MELA-AU 1 16272099 16272099 single base substitution C T upstream_gene_variant MELA-AU 1 16274629 16274629 single base substitution G A intron_variant MELA-AU 1 16274629 16274629 single base substitution G A upstream_gene_variant MELA-AU 1 16275276 16275276 single base substitution T C intron_variant MELA-AU 1 16275276 16275276 single base substitution T C upstream_gene_variant MELA-AU 1 16275650 16275650 single base substitution C T intron_variant MELA-AU 1 16275650 16275650 single base substitution C T upstream_gene_variant MELA-AU 1 16276098 16276098 single base substitution C T intron_variant MELA-AU 1 16276098 16276098 single base substitution C T upstream_gene_variant MELA-AU 1 16277171 16277171 single base substitution G A intron_variant MELA-AU 1 16277171 16277171 single base substitution G A upstream_gene_variant MELA-AU 1 16277291 16277291 single base substitution C T intron_variant MELA-AU 1 16277291 16277291 single base substitution C T upstream_gene_variant MELA-AU 1 16277828 16277828 single base substitution G A intron_variant MELA-AU 1 16277828 16277828 single base substitution G A upstream_gene_variant MELA-AU 1 16278630 16278630 single base substitution A G intron_variant MELA-AU 1 16278630 16278630 single base substitution A G upstream_gene_variant MELA-AU 1 16279479 16279480 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 16279479 16279480 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 16280181 16280181 single base substitution G A intron_variant MELA-AU 1 16280181 16280181 single base substitution G A upstream_gene_variant MELA-AU 1 16280390 16280391 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 16280390 16280391 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 16281253 16281253 single base substitution G A intron_variant MELA-AU 1 16281253 16281253 single base substitution G A upstream_gene_variant MELA-AU 1 16283901 16283901 single base substitution G A intron_variant MELA-AU 1 16283901 16283901 single base substitution G A upstream_gene_variant MELA-AU 1 16284022 16284022 single base substitution G A intron_variant MELA-AU 1 16284022 16284022 single base substitution G A upstream_gene_variant MELA-AU 1 16284749 16284749 single base substitution G A intron_variant MELA-AU 1 16285051 16285051 single base substitution C T intron_variant MELA-AU 1 16285499 16285500 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 16286185 16286185 single base substitution T C intron_variant MELA-AU 1 16288913 16288913 single base substitution G A intron_variant MELA-AU 1 16290861 16290861 single base substitution A G intron_variant MELA-AU 1 16291147 16291147 single base substitution G A intron_variant MELA-AU 1 16291227 16291227 single base substitution G A intron_variant MELA-AU 1 16291304 16291304 single base substitution C T intron_variant MELA-AU 1 16293202 16293202 single base substitution T C intron_variant MELA-AU 1 16294179 16294179 single base substitution C A intron_variant MELA-AU 1 16295474 16295474 single base substitution G A intron_variant MELA-AU 1 16295630 16295630 single base substitution C T intron_variant MELA-AU 1 16296432 16296432 single base substitution G A intron_variant MELA-AU 1 16296881 16296881 single base substitution G A intron_variant MELA-AU 1 16297520 16297520 single base substitution G A intron_variant MELA-AU 1 16297889 16297889 single base substitution C T intron_variant MELA-AU 1 16297968 16297969 multiple base substitution (>=2bp and <=200bp) AC TA intron_variant MELA-AU 1 16297997 16297997 single base substitution T C intron_variant MELA-AU 1 16298056 16298056 single base substitution C T intron_variant MELA-AU 1 16298673 16298673 single base substitution C T intron_variant MELA-AU 1 16299032 16299032 single base substitution G A intron_variant MELA-AU 1 16299763 16299763 single base substitution A G intron_variant MELA-AU 1 16299863 16299863 single base substitution G A intron_variant MELA-AU 1 16299881 16299881 single base substitution G A intron_variant MELA-AU 1 16299885 16299885 single base substitution G A intron_variant MELA-AU 1 16300477 16300477 single base substitution G A intron_variant MELA-AU 1 16301036 16301036 single base substitution T C intron_variant MELA-AU 1 16301118 16301118 single base substitution G A intron_variant MELA-AU 1 16302442 16302442 single base substitution G A intron_variant MELA-AU 1 16302490 16302490 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 16302490 16302490 single base substitution G A exon_variant MELA-AU 1 16302585 16302585 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 16302585 16302585 single base substitution G A exon_variant MELA-AU 1 16302585 16302585 single base substitution G A upstream_gene_variant MELA-AU 1 16302619 16302619 single base substitution C T 5_prime_UTR_variant MELA-AU 1 16302619 16302619 single base substitution C T upstream_gene_variant MELA-AU 1 16303028 16303028 single base substitution C T upstream_gene_variant MELA-AU 1 16303612 16303612 single base substitution G A upstream_gene_variant MELA-AU 1 16303978 16303978 single base substitution A C upstream_gene_variant MELA-AU 1 16304356 16304357 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 16304469 16304469 single base substitution C T upstream_gene_variant MELA-AU 1 16304473 16304473 single base substitution A G upstream_gene_variant MELA-AU 1 16304477 16304477 single base substitution C T upstream_gene_variant MELA-AU 1 16304787 16304787 single base substitution C T upstream_gene_variant MELA-AU 1 16304805 16304805 single base substitution C T upstream_gene_variant MELA-AU 1 16304830 16304830 single base substitution G A upstream_gene_variant MELA-AU 1 16304878 16304878 single base substitution C T upstream_gene_variant MELA-AU 1 16305064 16305064 insertion of <=200bp - A upstream_gene_variant MELA-AU 1 16305071 16305071 single base substitution C T upstream_gene_variant MELA-AU 1 16305214 16305214 single base substitution G A upstream_gene_variant MELA-AU 1 16305217 16305217 single base substitution G A upstream_gene_variant MELA-AU 1 16305392 16305392 single base substitution G A upstream_gene_variant MELA-AU 1 16305823 16305823 single base substitution C T upstream_gene_variant MELA-AU 1 16305947 16305947 single base substitution C T upstream_gene_variant MELA-AU 1 16306038 16306038 single base substitution A G upstream_gene_variant MELA-AU 1 16306124 16306124 single base substitution C T upstream_gene_variant MELA-AU 1 16306161 16306161 single base substitution G A upstream_gene_variant MELA-AU 1 16306331 16306331 single base substitution T A upstream_gene_variant MELA-AU 1 16306726 16306726 single base substitution G A upstream_gene_variant MELA-AU 1 16306758 16306758 single base substitution G A upstream_gene_variant MELA-AU 1 16306963 16306963 single base substitution G A upstream_gene_variant MELA-AU 1 16307177 16307177 single base substitution C T upstream_gene_variant MELA-AU 1 16307263 16307263 single base substitution C T upstream_gene_variant MELA-AU 1 16307294 16307294 single base substitution C T upstream_gene_variant MELA-AU 1 16307307 16307307 single base substitution G A upstream_gene_variant ORCA-IN 1 16264137 16264137 single base substitution G C downstream_gene_variant ORCA-IN 1 16264312 16264312 single base substitution C A downstream_gene_variant ORCA-IN 1 16267738 16267738 single base substitution G A downstream_gene_variant ORCA-IN 1 16270179 16270179 single base substitution G A downstream_gene_variant ORCA-IN 1 16270179 16270179 single base substitution G A exon_variant ORCA-IN 1 16270179 16270179 single base substitution G A synonymous_variant S415S 1245C>T ORCA-IN 1 16270179 16270179 single base substitution G A synonymous_variant S497S 1491C>T ORCA-IN 1 16270179 16270179 single base substitution G A synonymous_variant S53S 159C>T ORCA-IN 1 16270179 16270179 single base substitution G A upstream_gene_variant ORCA-IN 1 16283901 16283901 single base substitution G A intron_variant ORCA-IN 1 16283901 16283901 single base substitution G A upstream_gene_variant ORCA-IN 1 16293143 16293143 single base substitution G A intron_variant ORCA-IN 1 16306451 16306451 single base substitution C G upstream_gene_variant ORCA-IN 1 16307349 16307349 single base substitution C T upstream_gene_variant OV-AU 1 16264765 16264765 single base substitution A T downstream_gene_variant OV-AU 1 16278370 16278370 single base substitution A G intron_variant OV-AU 1 16278370 16278370 single base substitution A G upstream_gene_variant OV-AU 1 16281153 16281153 single base substitution A G intron_variant OV-AU 1 16281153 16281153 single base substitution A G upstream_gene_variant OV-AU 1 16285790 16285790 single base substitution G C intron_variant OV-AU 1 16290011 16290011 single base substitution T A intron_variant OV-AU 1 16291348 16291348 single base substitution C T intron_variant OV-AU 1 16295216 16295216 single base substitution C G intron_variant OV-AU 1 16295758 16295758 single base substitution G T intron_variant OV-AU 1 16296636 16296636 single base substitution C A intron_variant OV-AU 1 16297339 16297339 single base substitution G C intron_variant OV-AU 1 16297877 16297877 single base substitution T A intron_variant OV-AU 1 16297914 16297914 single base substitution A C intron_variant OV-AU 1 16298098 16298098 single base substitution C T intron_variant OV-AU 1 16298741 16298741 single base substitution G T intron_variant OV-AU 1 16304235 16304235 single base substitution C A upstream_gene_variant OV-AU 1 16306871 16306871 single base substitution T C upstream_gene_variant PACA-AU 1 16263499 16263499 single base substitution G A downstream_gene_variant PACA-AU 1 16269462 16269462 single base substitution C T downstream_gene_variant PACA-AU 1 16269462 16269462 single base substitution C T intron_variant PACA-AU 1 16269462 16269462 single base substitution C T upstream_gene_variant PACA-AU 1 16271003 16271003 single base substitution G A downstream_gene_variant PACA-AU 1 16271003 16271003 single base substitution G A exon_variant PACA-AU 1 16271003 16271003 single base substitution G A missense_variant A306V 917C>T PACA-AU 1 16271003 16271003 single base substitution G A missense_variant A325V 974C>T PACA-AU 1 16271003 16271003 single base substitution G A missense_variant A388V 1163C>T PACA-AU 1 16271003 16271003 single base substitution G A upstream_gene_variant PACA-AU 1 16278833 16278833 single base substitution C T intron_variant PACA-AU 1 16283942 16283942 single base substitution C G intron_variant PACA-AU 1 16283942 16283942 single base substitution C G upstream_gene_variant PACA-AU 1 16288433 16288433 single base substitution G A intron_variant PACA-AU 1 16292450 16292450 single base substitution A T intron_variant PACA-AU 1 16301077 16301077 single base substitution T C intron_variant PACA-AU 1 16307426 16307426 single base substitution G A upstream_gene_variant PACA-CA 1 16266237 16266237 insertion of <=200bp - TG downstream_gene_variant PACA-CA 1 16266428 16266428 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 16266441 16266441 single base substitution C T downstream_gene_variant PACA-CA 1 16266946 16266946 single base substitution A G downstream_gene_variant PACA-CA 1 16268725 16268725 single base substitution G A downstream_gene_variant PACA-CA 1 16268725 16268725 single base substitution G A exon_variant PACA-CA 1 16268725 16268725 single base substitution G A synonymous_variant Y123Y 369C>T PACA-CA 1 16268725 16268725 single base substitution G A synonymous_variant Y635Y 1905C>T PACA-CA 1 16268725 16268725 single base substitution G A synonymous_variant Y717Y 2151C>T PACA-CA 1 16268725 16268725 single base substitution G A synonymous_variant Y724Y 2172C>T PACA-CA 1 16271641 16271641 single base substitution G T downstream_gene_variant PACA-CA 1 16271641 16271641 single base substitution G T exon_variant PACA-CA 1 16271641 16271641 single base substitution G T missense_variant Q158K 472C>A PACA-CA 1 16271641 16271641 single base substitution G T missense_variant Q177K 529C>A PACA-CA 1 16271641 16271641 single base substitution G T missense_variant Q240K 718C>A PACA-CA 1 16271641 16271641 single base substitution G T upstream_gene_variant PACA-CA 1 16274423 16274423 single base substitution C T intron_variant PACA-CA 1 16274423 16274423 single base substitution C T upstream_gene_variant PACA-CA 1 16276032 16276032 deletion of <=200bp T - intron_variant PACA-CA 1 16276032 16276032 deletion of <=200bp T - upstream_gene_variant PACA-CA 1 16277630 16277630 single base substitution T A intron_variant PACA-CA 1 16277630 16277630 single base substitution T A upstream_gene_variant PACA-CA 1 16277655 16277657 deletion of <=200bp AGG - intron_variant PACA-CA 1 16277655 16277657 deletion of <=200bp AGG - upstream_gene_variant PACA-CA 1 16284378 16284378 single base substitution G A intron_variant PACA-CA 1 16284378 16284378 single base substitution G A upstream_gene_variant PACA-CA 1 16288690 16288690 single base substitution G A intron_variant PACA-CA 1 16297952 16297952 insertion of <=200bp - TATA intron_variant PACA-CA 1 16298056 16298056 single base substitution C T intron_variant PACA-CA 1 16300224 16300224 single base substitution A G intron_variant PACA-CA 1 16303631 16303631 single base substitution G C upstream_gene_variant PACA-CA 1 16304635 16304635 single base substitution C A upstream_gene_variant PACA-CA 1 16304769 16304776 deletion of <=200bp GTGTGGAA - upstream_gene_variant PACA-CA 1 16307422 16307422 single base substitution A G upstream_gene_variant PAEN-AU 1 16264470 16264470 single base substitution C T downstream_gene_variant PAEN-AU 1 16271360 16271360 single base substitution T G downstream_gene_variant PAEN-AU 1 16271360 16271360 single base substitution T G intron_variant PAEN-AU 1 16271360 16271360 single base substitution T G upstream_gene_variant PAEN-AU 1 16277788 16277788 single base substitution A G intron_variant PAEN-AU 1 16277788 16277788 single base substitution A G upstream_gene_variant PAEN-AU 1 16296764 16296764 single base substitution G C intron_variant PAEN-AU 1 16297877 16297877 single base substitution T A intron_variant PBCA-DE 1 16279839 16279839 single base substitution A G intron_variant PBCA-DE 1 16279839 16279839 single base substitution A G upstream_gene_variant PBCA-DE 1 16286065 16286065 insertion of <=200bp - A intron_variant PBCA-DE 1 16293870 16293870 insertion of <=200bp - A intron_variant PRAD-CA 1 16286509 16286509 single base substitution C T intron_variant PRAD-CA 1 16295715 16295715 single base substitution C G intron_variant PRAD-CA 1 16297868 16297868 single base substitution T C intron_variant PRAD-CA 1 16297997 16297997 single base substitution T C intron_variant PRAD-CA 1 16298006 16298006 single base substitution A T intron_variant PRAD-CA 1 16298007 16298007 single base substitution C A intron_variant PRAD-CA 1 16298056 16298056 single base substitution C T intron_variant PRAD-CA 1 16301081 16301081 single base substitution C T intron_variant PRAD-CA 1 16307414 16307414 single base substitution A G upstream_gene_variant PRAD-CA 1 16307422 16307422 single base substitution A G upstream_gene_variant PRAD-UK 1 16277410 16277410 single base substitution A C intron_variant PRAD-UK 1 16277410 16277410 single base substitution A C upstream_gene_variant PRAD-UK 1 16281378 16281378 single base substitution G A intron_variant PRAD-UK 1 16281378 16281378 single base substitution G A upstream_gene_variant PRAD-UK 1 16282990 16282990 insertion of <=200bp - A intron_variant PRAD-UK 1 16282990 16282990 insertion of <=200bp - A upstream_gene_variant PRAD-UK 1 16282996 16282996 insertion of <=200bp - A intron_variant PRAD-UK 1 16282996 16282996 insertion of <=200bp - A upstream_gene_variant PRAD-UK 1 16291838 16291838 single base substitution T C intron_variant PRAD-UK 1 16293855 16293855 single base substitution A G intron_variant PRAD-UK 1 16295449 16295449 single base substitution G A intron_variant PRAD-UK 1 16302119 16302119 single base substitution G T intron_variant PRAD-US 1 16265833 16265834 deletion of <=200bp GA - downstream_gene_variant PRAD-US 1 16270144 16270144 single base substitution C T downstream_gene_variant PRAD-US 1 16270144 16270144 single base substitution C T exon_variant PRAD-US 1 16270144 16270144 single base substitution C T missense_variant R427Q 1280G>A PRAD-US 1 16270144 16270144 single base substitution C T missense_variant R509Q 1526G>A PRAD-US 1 16270144 16270144 single base substitution C T missense_variant R65Q 194G>A PRAD-US 1 16270144 16270144 single base substitution C T upstream_gene_variant PRAD-US 1 16274882 16274882 single base substitution C A exon_variant PRAD-US 1 16274882 16274882 single base substitution C A intron_variant PRAD-US 1 16274882 16274882 single base substitution C A missense_variant A37S 109G>T PRAD-US 1 16274882 16274882 single base substitution C A upstream_gene_variant RECA-EU 1 16277055 16277055 single base substitution C T intron_variant RECA-EU 1 16277055 16277055 single base substitution C T upstream_gene_variant RECA-EU 1 16278092 16278092 single base substitution G A intron_variant RECA-EU 1 16278092 16278092 single base substitution G A upstream_gene_variant RECA-EU 1 16281955 16281955 single base substitution T C intron_variant RECA-EU 1 16281955 16281955 single base substitution T C upstream_gene_variant RECA-EU 1 16291413 16291413 single base substitution A G intron_variant RECA-EU 1 16294442 16294442 single base substitution G T intron_variant RECA-EU 1 16305794 16305794 single base substitution G A upstream_gene_variant SKCA-BR 1 16265422 16265422 single base substitution A G downstream_gene_variant SKCA-BR 1 16271072 16271072 single base substitution T C downstream_gene_variant SKCA-BR 1 16271072 16271072 single base substitution T C exon_variant SKCA-BR 1 16271072 16271072 single base substitution T C missense_variant E283G 848A>G SKCA-BR 1 16271072 16271072 single base substitution T C missense_variant E302G 905A>G SKCA-BR 1 16271072 16271072 single base substitution T C missense_variant E365G 1094A>G SKCA-BR 1 16271072 16271072 single base substitution T C upstream_gene_variant SKCA-BR 1 16276368 16276368 single base substitution C G intron_variant SKCA-BR 1 16276368 16276368 single base substitution C G upstream_gene_variant SKCA-BR 1 16277808 16277808 insertion of <=200bp - AAGGAAGGGAGAGAGGG intron_variant SKCA-BR 1 16277808 16277808 insertion of <=200bp - AAGGAAGGGAGAGAGGG upstream_gene_variant SKCA-BR 1 16283901 16283901 single base substitution G A intron_variant SKCA-BR 1 16283901 16283901 single base substitution G A upstream_gene_variant SKCA-BR 1 16284910 16284910 insertion of <=200bp - CA intron_variant SKCA-BR 1 16286550 16286550 single base substitution G A intron_variant SKCA-BR 1 16290619 16290619 insertion of <=200bp - GAA intron_variant SKCA-BR 1 16291639 16291639 single base substitution C A intron_variant SKCA-BR 1 16291666 16291666 single base substitution G A intron_variant SKCA-BR 1 16295553 16295553 single base substitution A C intron_variant SKCA-BR 1 16296143 16296143 single base substitution C T intron_variant SKCA-BR 1 16296982 16296982 insertion of <=200bp - GTTCAAGTGA intron_variant SKCA-BR 1 16297868 16297868 single base substitution T C intron_variant SKCA-BR 1 16297923 16297927 deletion of <=200bp TACAC - intron_variant SKCA-BR 1 16297952 16297952 insertion of <=200bp - CTATA intron_variant SKCA-BR 1 16297961 16297961 single base substitution C T intron_variant SKCA-BR 1 16297986 16297988 deletion of <=200bp CTA - intron_variant SKCA-BR 1 16297995 16297999 deletion of <=200bp TATAC - intron_variant SKCA-BR 1 16298006 16298006 single base substitution A T intron_variant SKCA-BR 1 16298007 16298007 single base substitution C A intron_variant SKCA-BR 1 16300144 16300144 single base substitution G A intron_variant SKCA-BR 1 16300697 16300698 deletion of <=200bp AC - intron_variant SKCA-BR 1 16300698 16300698 single base substitution C A intron_variant SKCA-BR 1 16302586 16302586 single base substitution G A 5_prime_UTR_variant SKCA-BR 1 16302586 16302586 single base substitution G A exon_variant SKCA-BR 1 16302586 16302586 single base substitution G A upstream_gene_variant SKCA-BR 1 16303501 16303501 single base substitution A C upstream_gene_variant SKCA-BR 1 16304805 16304805 single base substitution C T upstream_gene_variant SKCA-BR 1 16305883 16305883 single base substitution C T upstream_gene_variant SKCA-BR 1 16305918 16305918 single base substitution C T upstream_gene_variant SKCA-BR 1 16305939 16305939 single base substitution C T upstream_gene_variant SKCA-BR 1 16306846 16306846 single base substitution G A upstream_gene_variant SKCM-US 1 16263758 16263758 single base substitution A G downstream_gene_variant SKCM-US 1 16264444 16264444 single base substitution C T downstream_gene_variant SKCM-US 1 16265266 16265266 single base substitution G A downstream_gene_variant SKCM-US 1 16270310 16270310 single base substitution G A downstream_gene_variant SKCM-US 1 16270310 16270310 single base substitution G A exon_variant SKCM-US 1 16270310 16270310 single base substitution G A intron_variant SKCM-US 1 16270310 16270310 single base substitution G A synonymous_variant T402T 1206C>T SKCM-US 1 16270310 16270310 single base substitution G A synonymous_variant T484T 1452C>T SKCM-US 1 16270310 16270310 single base substitution G A upstream_gene_variant SKCM-US 1 16270856 16270856 deletion of <=200bp A - downstream_gene_variant SKCM-US 1 16270856 16270856 deletion of <=200bp A - exon_variant SKCM-US 1 16270856 16270856 deletion of <=200bp A - frameshift_variant L355 SKCM-US 1 16270856 16270856 deletion of <=200bp A - frameshift_variant L374 SKCM-US 1 16270856 16270856 deletion of <=200bp A - frameshift_variant L437 SKCM-US 1 16270856 16270856 deletion of <=200bp A - frameshift_variant P22 SKCM-US 1 16270856 16270856 deletion of <=200bp A - upstream_gene_variant STAD-US 1 16263675 16263675 single base substitution T C downstream_gene_variant STAD-US 1 16263760 16263760 single base substitution C T downstream_gene_variant STAD-US 1 16263839 16263839 single base substitution G A downstream_gene_variant STAD-US 1 16264140 16264140 single base substitution G T downstream_gene_variant STAD-US 1 16264327 16264327 insertion of <=200bp - G downstream_gene_variant STAD-US 1 16265254 16265254 single base substitution C T downstream_gene_variant STAD-US 1 16265849 16265849 single base substitution G A downstream_gene_variant STAD-US 1 16268477 16268477 deletion of <=200bp G - downstream_gene_variant STAD-US 1 16268477 16268477 deletion of <=200bp G - exon_variant STAD-US 1 16268477 16268477 deletion of <=200bp G - frameshift_variant P206 STAD-US 1 16268477 16268477 deletion of <=200bp G - frameshift_variant P718 STAD-US 1 16268477 16268477 deletion of <=200bp G - frameshift_variant P800 STAD-US 1 16268477 16268477 deletion of <=200bp G - frameshift_variant P807 STAD-US 1 16268632 16268632 single base substitution C T downstream_gene_variant STAD-US 1 16268632 16268632 single base substitution C T exon_variant STAD-US 1 16268632 16268632 single base substitution C T synonymous_variant Q154Q 462G>A STAD-US 1 16268632 16268632 single base substitution C T synonymous_variant Q666Q 1998G>A STAD-US 1 16268632 16268632 single base substitution C T synonymous_variant Q748Q 2244G>A STAD-US 1 16268632 16268632 single base substitution C T synonymous_variant Q755Q 2265G>A STAD-US 1 16269638 16269638 single base substitution G A downstream_gene_variant STAD-US 1 16269638 16269638 single base substitution G A exon_variant STAD-US 1 16269638 16269638 single base substitution G A synonymous_variant I139I 417C>T STAD-US 1 16269638 16269638 single base substitution G A synonymous_variant I501I 1503C>T STAD-US 1 16269638 16269638 single base substitution G A synonymous_variant I583I 1749C>T STAD-US 1 16269638 16269638 single base substitution G A upstream_gene_variant STAD-US 1 16269901 16269901 single base substitution C A downstream_gene_variant STAD-US 1 16269901 16269901 single base substitution C A exon_variant STAD-US 1 16269901 16269901 single base substitution C A missense_variant G120C 358G>T STAD-US 1 16269901 16269901 single base substitution C A missense_variant G482C 1444G>T STAD-US 1 16269901 16269901 single base substitution C A missense_variant G564C 1690G>T STAD-US 1 16269901 16269901 single base substitution C A upstream_gene_variant STAD-US 1 16270392 16270392 single base substitution T C 3_prime_UTR_variant STAD-US 1 16270392 16270392 single base substitution T C downstream_gene_variant STAD-US 1 16270392 16270392 single base substitution T C exon_variant STAD-US 1 16270392 16270392 single base substitution T C intron_variant STAD-US 1 16270392 16270392 single base substitution T C splice_acceptor_variant STAD-US 1 16270392 16270392 single base substitution T C upstream_gene_variant STAD-US 1 16271569 16271569 single base substitution C T downstream_gene_variant STAD-US 1 16271569 16271569 single base substitution C T exon_variant STAD-US 1 16271569 16271569 single base substitution C T missense_variant E182K 544G>A STAD-US 1 16271569 16271569 single base substitution C T missense_variant E201K 601G>A STAD-US 1 16271569 16271569 single base substitution C T missense_variant E264K 790G>A STAD-US 1 16271569 16271569 single base substitution C T upstream_gene_variant STAD-US 1 16272679 16272679 single base substitution G A exon_variant STAD-US 1 16272679 16272679 single base substitution G A missense_variant R106C 316C>T STAD-US 1 16272679 16272679 single base substitution G A missense_variant R169C 505C>T STAD-US 1 16272679 16272679 single base substitution G A missense_variant R87C 259C>T STAD-US 1 16272679 16272679 single base substitution G A upstream_gene_variant STAD-US 1 16272720 16272720 single base substitution C T exon_variant STAD-US 1 16272720 16272720 single base substitution C T missense_variant R155H 464G>A STAD-US 1 16272720 16272720 single base substitution C T missense_variant R73H 218G>A STAD-US 1 16272720 16272720 single base substitution C T missense_variant R92H 275G>A STAD-US 1 16272720 16272720 single base substitution C T upstream_gene_variant STAD-US 1 16274869 16274869 single base substitution A T exon_variant STAD-US 1 16274869 16274869 single base substitution A T intron_variant STAD-US 1 16274869 16274869 single base substitution A T missense_variant V41E 122T>A STAD-US 1 16274869 16274869 single base substitution A T upstream_gene_variant UCEC-US 1 16264058 16264058 single base substitution C T downstream_gene_variant UCEC-US 1 16264444 16264444 single base substitution C T downstream_gene_variant UCEC-US 1 16265284 16265284 single base substitution C T downstream_gene_variant UCEC-US 1 16265349 16265349 single base substitution T A downstream_gene_variant UCEC-US 1 16268936 16268936 single base substitution C T downstream_gene_variant UCEC-US 1 16268936 16268936 single base substitution C T exon_variant UCEC-US 1 16268936 16268936 single base substitution C T intron_variant UCEC-US 1 16268936 16268936 single base substitution C T missense_variant G680D 2039G>A UCEC-US 1 16268936 16268936 single base substitution C T missense_variant G79D 236G>A UCEC-US 1 16269071 16269071 single base substitution G A downstream_gene_variant UCEC-US 1 16269071 16269071 single base substitution G A exon_variant UCEC-US 1 16269071 16269071 single base substitution G A missense_variant T220M 659C>T UCEC-US 1 16269071 16269071 single base substitution G A missense_variant T582M 1745C>T UCEC-US 1 16269071 16269071 single base substitution G A missense_variant T63M 188C>T UCEC-US 1 16269071 16269071 single base substitution G A missense_variant T664M 1991C>T UCEC-US 1 16269682 16269682 single base substitution G A downstream_gene_variant UCEC-US 1 16269682 16269682 single base substitution G A exon_variant UCEC-US 1 16269682 16269682 single base substitution G A stop_gained Q125* 373C>T UCEC-US 1 16269682 16269682 single base substitution G A stop_gained Q487* 1459C>T UCEC-US 1 16269682 16269682 single base substitution G A stop_gained Q569* 1705C>T UCEC-US 1 16269682 16269682 single base substitution G A upstream_gene_variant UCEC-US 1 16269907 16269907 single base substitution G A downstream_gene_variant UCEC-US 1 16269907 16269907 single base substitution G A exon_variant UCEC-US 1 16269907 16269907 single base substitution G A missense_variant R118C 352C>T UCEC-US 1 16269907 16269907 single base substitution G A missense_variant R480C 1438C>T UCEC-US 1 16269907 16269907 single base substitution G A missense_variant R562C 1684C>T UCEC-US 1 16269907 16269907 single base substitution G A upstream_gene_variant UCEC-US 1 16269942 16269942 single base substitution C T downstream_gene_variant UCEC-US 1 16269942 16269942 single base substitution C T exon_variant UCEC-US 1 16269942 16269942 single base substitution C T missense_variant R106H 317G>A UCEC-US 1 16269942 16269942 single base substitution C T missense_variant R468H 1403G>A UCEC-US 1 16269942 16269942 single base substitution C T missense_variant R550H 1649G>A UCEC-US 1 16269942 16269942 single base substitution C T upstream_gene_variant UCEC-US 1 16270714 16270714 single base substitution C T downstream_gene_variant UCEC-US 1 16270714 16270714 single base substitution C T exon_variant UCEC-US 1 16270714 16270714 single base substitution C T intron_variant UCEC-US 1 16270714 16270714 single base substitution C T synonymous_variant A421A 1263G>A UCEC-US 1 16270714 16270714 single base substitution C T upstream_gene_variant UCEC-US 1 16270876 16270876 single base substitution G A downstream_gene_variant UCEC-US 1 16270876 16270876 single base substitution G A exon_variant UCEC-US 1 16270876 16270876 single base substitution G A missense_variant H16Y 46C>T UCEC-US 1 16270876 16270876 single base substitution G A synonymous_variant P348P 1044C>T UCEC-US 1 16270876 16270876 single base substitution G A synonymous_variant P367P 1101C>T UCEC-US 1 16270876 16270876 single base substitution G A synonymous_variant P430P 1290C>T UCEC-US 1 16270876 16270876 single base substitution G A upstream_gene_variant UCEC-US 1 16270923 16270923 single base substitution C T 5_prime_UTR_variant UCEC-US 1 16270923 16270923 single base substitution C T downstream_gene_variant UCEC-US 1 16270923 16270923 single base substitution C T exon_variant UCEC-US 1 16270923 16270923 single base substitution C T missense_variant E333K 997G>A UCEC-US 1 16270923 16270923 single base substitution C T missense_variant E352K 1054G>A UCEC-US 1 16270923 16270923 single base substitution C T missense_variant E415K 1243G>A UCEC-US 1 16270923 16270923 single base substitution C T upstream_gene_variant UCEC-US 1 16271518 16271518 single base substitution C T downstream_gene_variant UCEC-US 1 16271518 16271518 single base substitution C T exon_variant UCEC-US 1 16271518 16271518 single base substitution C T missense_variant G199S 595G>A UCEC-US 1 16271518 16271518 single base substitution C T missense_variant G218S 652G>A UCEC-US 1 16271518 16271518 single base substitution C T missense_variant G281S 841G>A UCEC-US 1 16271518 16271518 single base substitution C T upstream_gene_variant UCEC-US 1 16271569 16271569 single base substitution C T downstream_gene_variant UCEC-US 1 16271569 16271569 single base substitution C T exon_variant UCEC-US 1 16271569 16271569 single base substitution C T missense_variant E182K 544G>A UCEC-US 1 16271569 16271569 single base substitution C T missense_variant E201K 601G>A UCEC-US 1 16271569 16271569 single base substitution C T missense_variant E264K 790G>A UCEC-US 1 16271569 16271569 single base substitution C T upstream_gene_variant UCEC-US 1 16273450 16273450 single base substitution G A exon_variant UCEC-US 1 16273450 16273450 single base substitution G A intron_variant UCEC-US 1 16273450 16273450 single base substitution G A missense_variant A125V 374C>T UCEC-US 1 16273450 16273450 single base substitution G A missense_variant R36W 106C>T UCEC-US 1 16273450 16273450 single base substitution G A upstream_gene_variant UCEC-US 1 16274938 16274938 single base substitution C T exon_variant UCEC-US 1 16274938 16274938 single base substitution C T intron_variant UCEC-US 1 16274938 16274938 single base substitution C T missense_variant R18Q 53G>A UCEC-US 1 16274938 16274938 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHEWS011 COSM4576517 c.748G>A p.V250I Substitution - Missense 1:15945116-15945116 - 19 COSM5745583 c.818G>A p.G273D Substitution - Missense 1:15945046-15945046 - B41 COSM1747901 c.621T>C p.A207A Substitution - coding silent 1:15945755-15945755 - 89 COSM5014075 c.1933A>G p.I645V Substitution - Missense 1:15942634-15942634 - TCGA-A8-A07C-01 COSM3802643 c.621T>G p.A207A Substitution - coding silent 1:15945755-15945755 - TCGA-CG-5721-01 COSM898774 c.790G>A p.E264K Substitution - Missense 1:15945074-15945074 - Pat_60_B COSM5844307 c.2330G>A p.R777H Substitution - Missense 1:15942051-15942051 - CHC793T COSM4801355 c.1914G>T p.Q638H Substitution - Missense 1:15942653-15942653 - TCGA-D1-A0ZO-01 COSM898774 c.790G>A p.E264K Substitution - Missense 1:15945074-15945074 - sysucc-1510T COSM5764111 c.2359G>A p.D787N Substitution - Missense 1:15942043-15942043 - TCGA-CG-4306-01 COSM4024580 c.2244G>A p.Q748Q Substitution - coding silent 1:15942137-15942137 - TCGA-IR-A3LH-01 COSM4833518 c.502G>C p.E168Q Substitution - Missense 1:15946187-15946187 - 421 COSM4432142 c.2015C>T p.A672V Substitution - Missense 1:15942552-15942552 - Pat_60_B COSM5844309 c.2351G>A p.R784H Substitution - Missense 1:15942051-15942051 - 587226 COSM1233125 c.1165C>T p.R389C Substitution - Missense 1:15944506-15944506 - TCGA-DK-A1AC-01 COSM4811821 c.1726C>T p.H576Y Substitution - Missense 1:15943166-15943166 - TCGA-85-6560-01 COSM676568 c.1675G>A p.V559I Substitution - Missense 1:15943421-15943421 - TCGA-Q1-A73O-01 COSM4835517 c.759G>A p.E253E Substitution - coding silent 1:15945105-15945105 - HT55 COSM2088108 c.1759A>T p.K587* Substitution - Nonsense 1:15943133-15943133 - sysucc-311T COSM2088107 c.1861C>T p.R621C Substitution - Missense 1:15942706-15942706 - SNU-175 COSM898768 c.1649G>A p.R550H Substitution - Missense 1:15943447-15943447 - TCGA-Q1-A73O-01 COSM4835685 c.795G>A p.E265E Substitution - coding silent 1:15945069-15945069 - CSCC-7-T COSM4533004 c.1939G>A p.E647K Substitution - Missense 1:15942628-15942628 - SM-4B296 COSM4411844 c.85G>T p.V29L Substitution - Missense 1:15948411-15948411 - B56-Tumor COSM1747901 c.621T>C p.A207A Substitution - coding silent 1:15945755-15945755 - TCGA-04-1342-01 COSM118065 c.321C>G p.A107A Substitution - coding silent 1:15947008-15947008 - CN-AML-CR-22-Dx COSM3930473 c.621T>C p.A207A Substitution - coding silent 1:15945755-15945755 - CSCC-32-T COSM4564085 c.438_439GC>TT p.(=) Unknown 1:15946250-15946251 - BD114T COSM5502160 c.246G>T p.L82L Substitution - coding silent 1:15947083-15947083 - PD9592a COSM5800904 c.1702G>C p.V568L Substitution - Missense 1:15943190-15943190 - A4 COSM898774 c.790G>A p.E264K Substitution - Missense 1:15945074-15945074 - 1360-01-01TD COSM5417013 c.1413C>T p.D471D Substitution - coding silent 1:15943854-15943854 - TCGA-DM-A28H-01 COSM4784085 c.821C>G p.T274R Substitution - Missense 1:15945043-15945043 - TCGA-B5-A11E-01 COSM4870121 c.1243G>A p.E415K Substitution - Missense 1:15944428-15944428 - TCGA-B5-A11E-01 COSM898796 c.53G>A p.R18Q Substitution - Missense 1:15948443-15948443 - TCGA-B5-A11E-01 COSM4870484 c.53G>A p.R18Q Substitution - Missense 1:15948443-15948443 - RKO COSM4224535 c.2316C>T p.A772A Substitution - coding silent 1:15942086-15942086 - PT50 COSM5936963 c.1493G>A p.G498E Substitution - Missense 1:15943682-15943682 - RKO COSM2088095 c.2295C>T p.A765A Substitution - coding silent 1:15942086-15942086 - TCGA-Q1-A73O-01 COSM4834559 c.1981G>A p.D661N Substitution - Missense 1:15942586-15942586 - TCGA-B5-A11E-01 COSM898772 c.1243G>A p.E415K Substitution - Missense 1:15944428-15944428 - TCGA-CD-A4MJ-01 COSM316639 c.505C>T p.R169C Substitution - Missense 1:15946184-15946184 - U2940 COSM5622204 c.1921G>A p.A641T Substitution - Missense 1:15942646-15942646 - I2L-P19Ta-Tumor-Biopsy COSM5352467 c.2149+10delG p.? Unknown 1:15942321-15942321 - TCGA-J9-A52C-01 COSM4877606 c.1526G>A p.R509Q Substitution - Missense 1:15943649-15943649 - CHEWS030 COSM4576515 c.2335C>T p.R779C Substitution - Missense 1:15942046-15942046 - TCGA-D1-A0ZO-01 COSM4024588 c.790G>A p.E264K Substitution - Missense 1:15945074-15945074 - TCGA-BR-6452-01 COSM4024613 c.122T>A p.V41E Substitution - Missense 1:15948374-15948374 - TCGA-D1-A17T-01 COSM898769 c.1388C>A p.A463D Substitution - Missense 1:15943879-15943879 - TCGA-F4-6807-01 COSM4786921 c.1792G>T p.V598L Substitution - Missense 1:15943100-15943100 - HCC078T COSM5805955 c.476T>C p.I159T Substitution - Missense 1:15946213-15946213 - HT55 COSM4224549 c.1759A>T p.K587* Substitution - Nonsense 1:15943133-15943133 - S00936 COSM316639 c.505C>T p.R169C Substitution - Missense 1:15946184-15946184 - B66-0-Tumor COSM1747901 c.621T>C p.A207A Substitution - coding silent 1:15945755-15945755 - sysucc-1510T COSM5764109 c.2338G>A p.D780N Substitution - Missense 1:15942043-15942043 - Pat_45_A COSM5844318 c.713A>G p.E238G Substitution - Missense 1:15945151-15945151 - TCGA-AX-A0J1-01 COSM898768 c.1649G>A p.R550H Substitution - Missense 1:15943447-15943447 - TCGA-A2-A0T5-01 COSM3802640 c.671T>G p.V224G Substitution - Missense 1:15945193-15945193 - TCGA-D1-A15X-01 COSM898773 c.841G>A p.G281S Substitution - Missense 1:15945023-15945023 - 1517_CLM COSM5754252 c.784G>C p.A262P Substitution - Missense 1:15945080-15945080 - BD57T COSM4871991 c.841G>A p.G281S Substitution - Missense 1:15945023-15945023 - LP6007427-DNA_A01 COSM5035294 c.948G>A p.T316T Substitution - coding silent 1:15944819-15944819 - SC_9100 COSM5548894 c.527C>T p.A176V Substitution - Missense 1:15946162-15946162 - pfg008T COSM1196001 c.1873C>T p.R625W Substitution - Missense 1:15942694-15942694 - CSCC-37-T COSM4496427 c.474C>T p.P158P Substitution - coding silent 1:15946215-15946215 - T30 COSM5618364 c.265G>A p.V89M Substitution - Missense 1:15947064-15947064 - TCGA-Q1-A73O-01 COSM4835054 c.1957G>A p.E653K Substitution - Missense 1:15942610-15942610 - TCGA-Q1-A73O-01 COSM4835798 c.4G>T p.D2Y Substitution - Missense 1:15948492-15948492 - 61 COSM5735283 c.282C>T p.A94A Substitution - coding silent 1:15947047-15947047 - TCGA-Q1-A73O-01 COSM4834558 c.1981G>A p.D661N Substitution - Missense 1:15942586-15942586 - SC_9055 COSM5566834 c.2357G>A p.R786H Substitution - Missense 1:15942045-15942045 - Pat_24_A COSM4432141 c.2015C>T p.A672V Substitution - Missense 1:15942552-15942552 - T578 COSM4742082 c.1674C>T p.Y558Y Substitution - coding silent 1:15943422-15943422 - 89 COSM5014074 c.1933A>G p.I645V Substitution - Missense 1:15942634-15942634 - T2932 COSM4742080 c.1767C>A p.S589R Substitution - Missense 1:15943125-15943125 - BD57T COSM898773 c.841G>A p.G281S Substitution - Missense 1:15945023-15945023 - ESCC-225T COSM3934225 c.1304G>A p.R435H Substitution - Missense 1:15944367-15944367 - CLL167 COSM1290031 c.772G>A p.E258K Substitution - Missense 1:15945092-15945092 - HCC46T COSM3705194 c.1540C>T p.P514S Substitution - Missense 1:15943635-15943635 - B66-0-Tumor COSM3930473 c.621T>C p.A207A Substitution - coding silent 1:15945755-15945755 - TCGA-Q1-A73O-01 COSM4835518 c.759G>A p.E253E Substitution - coding silent 1:15945105-15945105 - HCT8 COSM4633379 c.1659C>T p.T553T Substitution - coding silent 1:15943437-15943437 - SNU-175 COSM4224552 c.1649G>A p.R550H Substitution - Missense 1:15943447-15943447 - HONE1 COSM4995307 c.281C>T p.A94V Substitution - Missense 1:15947048-15947048 - TCGA-EY-A1GS-01 COSM898770 c.1290C>T p.P430P Substitution - coding silent 1:15944381-15944381 - ESO-0133 COSM1270694 c.691G>A p.E231K Substitution - Missense 1:15945173-15945173 - I2L-P19Ta-Tumor-Organoid COSM5352467 c.2149+10delG p.? Unknown 1:15942321-15942321 - 421 COSM4432141 c.2015C>T p.A672V Substitution - Missense 1:15942552-15942552 - CSCC-37-T COSM4496426 c.474C>T p.P158P Substitution - coding silent 1:15946215-15946215 - B56-Tumor COSM3930473 c.621T>C p.A207A Substitution - coding silent 1:15945755-15945755 - 61 COSM5735281 c.282C>T p.A94A Substitution - coding silent 1:15947047-15947047 - TCGA-A2-A0T5-01 COSM3802641 c.671T>G p.V224G Substitution - Missense 1:15945193-15945193 - TCGA-A5-A0VP-01 COSM4874183 c.374C>T p.A125V Substitution - Missense 1:15946955-15946955 - TCGA-DK-A1AC-01 COSM1295385 c.1726C>T p.H576Y Substitution - Missense 1:15943166-15943166 - B16-Tumor COSM1747901 c.621T>C p.A207A Substitution - coding silent 1:15945755-15945755 - 587318 COSM1233126 c.1354G>A p.D452N Substitution - Missense 1:15944317-15944317 - TCGA-EA-A1QS-01 COSM4831027 c.2210G>A p.R737Q Substitution - Missense 1:15942171-15942171 - LP6007401-DNA_A01 COSM5036092 c.1187G>A p.G396D Substitution - Missense 1:15944484-15944484 - TCGA-AC-A23H-01 COSM3802638 c.1093G>A p.E365K Substitution - Missense 1:15944578-15944578 - TCGA-06-6700-01 COSM3399934 c.2264A>G p.Q755R Substitution - Missense 1:15942138-15942138 - TCGA-Q1-A73O-01 COSM4834277 c.1945G>A p.E649K Substitution - Missense 1:15942622-15942622 - TCGA-DK-A1AC-01 COSM4811894 c.1899G>A p.V633V Substitution - coding silent 1:15942668-15942668 - TCGA-IR-A3LH-01 COSM4833517 c.502G>C p.E168Q Substitution - Missense 1:15946187-15946187 - TCGA-D1-A17F-01 COSM3355965 c.2039G>A p.G680D Substitution - Missense 1:15942441-15942441 - Pat_06_A COSM5844314 c.1037C>T p.P346L Substitution - Missense 1:15944730-15944730 - CHEWS011 COSM4576518 c.748G>A p.V250I Substitution - Missense 1:15945116-15945116 - PD4844a COSM5771521 c.1171C>T p.R391C Substitution - Missense 1:15944500-15944500 - 61 COSM5735278 c.319G>A p.A107T Substitution - Missense 1:15947010-15947010 - TCGA-J9-A52C-01 COSM4877607 c.1526G>A p.R509Q Substitution - Missense 1:15943649-15943649 - B16-Tumor COSM3930473 c.621T>C p.A207A Substitution - coding silent 1:15945755-15945755 - pfg024T COSM1639599 c.2370G>C p.E790D Substitution - Missense 1:15942011-15942011 - TCGA-Q1-A73O-01 COSM4835553 c.1299G>C p.K433N Substitution - Missense 1:15944372-15944372 - T3724 COSM4742084 c.1561G>A p.V521I Substitution - Missense 1:15943614-15943614 - SM-4B296 COSM4411845 c.85G>T p.V29L Substitution - Missense 1:15948411-15948411 - YUNIBO COSM5378255 c.1195T>G p.F399V Substitution - Missense 1:15944476-15944476 - I2L-P7-Tumor-Organoid COSM5353479 c.1015T>C p.C339R Substitution - Missense 1:15944752-15944752 - TCGA-A8-A07C-01 COSM3802644 c.621T>G p.A207A Substitution - coding silent 1:15945755-15945755 - TCGA-BR-4184-01 COSM4024601 c.464G>A p.R155H Substitution - Missense 1:15946225-15946225 - 1360-01-01TD COSM5417015 c.1413C>T p.D471D Substitution - coding silent 1:15943854-15943854 - TCGA-06-6700-01 COSM3399933 c.2243A>G p.Q748R Substitution - Missense 1:15942138-15942138 - B63-Tumor COSM3930473 c.621T>C p.A207A Substitution - coding silent 1:15945755-15945755 - BD114T COSM5502161 c.246G>T p.L82L Substitution - coding silent 1:15947083-15947083 - TCGA-Q1-A73O-01 COSM4835552 c.1299G>C p.K433N Substitution - Missense 1:15944372-15944372 - CSCC-7-T COSM4533005 c.1939G>A p.E647K Substitution - Missense 1:15942628-15942628 - TCGA-Q1-A73O-01 COSM4835763 c.1467G>A p.L489L Substitution - coding silent 1:15943708-15943708 - RK308_C01 COSM3740794 c.2273C>G p.A758G Substitution - Missense 1:15942129-15942129 - TCGA-AX-A0J1-01 COSM4224552 c.1649G>A p.R550H Substitution - Missense 1:15943447-15943447 - CSCC-10-T COSM4529044 c.1581G>A p.E527E Substitution - coding silent 1:15943515-15943515 - TCGA-DM-A28H-01 COSM1335822 c.821C>G p.T274R Substitution - Missense 1:15945043-15945043 - TCGA-D8-A27G-01 COSM3802653 c.69C>G p.L23L Substitution - coding silent 1:15948427-15948427 - 1517_CLM COSM5754250 c.784G>C p.A262P Substitution - Missense 1:15945080-15945080 - 61 COSM5735280 c.319G>A p.A107T Substitution - Missense 1:15947010-15947010 - T3091 COSM1233127 c.1429C>T p.R477* Substitution - Nonsense 1:15943838-15943838 - TCGA-A6-5665-01 COSM4783310 c.1956T>C p.S652S Substitution - coding silent 1:15942611-15942611 - P09-1580 COSM248406 c.605C>T p.T202M Substitution - Missense 1:15945771-15945771 - Pat_45_A COSM5844320 c.713A>G p.E238G Substitution - Missense 1:15945151-15945151 - TCGA-AC-A23H-01 COSM3802634 c.1879G>C p.D627H Substitution - Missense 1:15942688-15942688 - HCC078T COSM5805953 c.476T>C p.I159T Substitution - Missense 1:15946213-15946213 - HCC46T COSM3705193 c.1540C>T p.P514S Substitution - Missense 1:15943635-15943635 - PCSI_0083_Pa_P_526 COSM3849302 c.2151C>T p.Y717Y Substitution - coding silent 1:15942230-15942230 - PD9592a COSM5800906 c.1702G>C p.V568L Substitution - Missense 1:15943190-15943190 - TCGA-CG-4442-01 COSM4024587 c.1372-2A>G p.? Unknown 1:15943897-15943897 - 16T COSM3711193 c.1491C>T p.S497S Substitution - coding silent 1:15943684-15943684 - OSCC-GB_00160111 COSM3711192 c.1491C>T p.S497S Substitution - coding silent 1:15943684-15943684 - TCGA-CG-4442-01 COSM4024584 c.1690G>T p.G564C Substitution - Missense 1:15943406-15943406 - CSCC-62-T COSM4490327 c.361C>T p.P121S Substitution - Missense 1:15946968-15946968 - TCGA-Q1-A73O-01 COSM4835056 c.721G>C p.E241Q Substitution - Missense 1:15945143-15945143 - TCGA-Q1-A73O-01 COSM4835055 c.721G>C p.E241Q Substitution - Missense 1:15945143-15945143 - PTC-7C COSM4142945 c.2419C>T p.P807S Substitution - Missense 1:15941983-15941983 - CSCC-7-T COSM4503638 c.644C>T p.S215F Substitution - Missense 1:15945732-15945732 - TCGA-Q1-A73O-01 COSM4835684 c.795G>A p.E265E Substitution - coding silent 1:15945069-15945069 - SC_9055 COSM5566832 c.2336G>A p.R779H Substitution - Missense 1:15942045-15942045 - CSCC-32-T COSM4564086 c.438_439GC>TT p.(=) Unknown 1:15946250-15946251 - TCGA-DK-A1AC-01 COSM1295384 c.1899G>A p.V633V Substitution - coding silent 1:15942668-15942668 - Pat_53_B COSM5844313 c.1732C>T p.R578C Substitution - Missense 1:15943160-15943160 - 61 COSM5735276 c.847G>A p.E283K Substitution - Missense 1:15945017-15945017 - T2932 COSM4742079 c.1767C>A p.S589R Substitution - Missense 1:15943125-15943125 - PD11750a COSM5786518 c.42G>C p.L14L Substitution - coding silent 1:15948454-15948454 - PD4120a COSM165652 c.591C>G p.L197L Substitution - coding silent 1:15945785-15945785 - I2L-P7-Tumor-Organoid COSM5353477 c.1015T>C p.C339R Substitution - Missense 1:15944752-15944752 - PD9604a COSM5792678 c.1941G>A p.E647E Substitution - coding silent 1:15942626-15942626 - TCGA-Q1-A73O-01 COSM4835009 c.2347G>A p.E783K Substitution - Missense 1:15942034-15942034 - CHC793T COSM4801354 c.1914G>T p.Q638H Substitution - Missense 1:15942653-15942653 - LC_S12 COSM1185335 c.365G>C p.G122A Substitution - Missense 1:15946964-15946964 - TCGA-AC-A23H-01 COSM3802635 c.1879G>C p.D627H Substitution - Missense 1:15942688-15942688 - TCGA-Q1-A73O-01 COSM4835762 c.1467G>A p.L489L Substitution - coding silent 1:15943708-15943708 - TCGA-D8-A27G-01 COSM3802652 c.69C>G p.L23L Substitution - coding silent 1:15948427-15948427 - TCGA-EJ-5503-01 COSM4877999 c.109G>T p.A37S Substitution - Missense 1:15948387-15948387 - YUNIBO COSM5378253 c.1195T>G p.F399V Substitution - Missense 1:15944476-15944476 - I2L-P19Ta-Tumor-Organoid COSM5352465 c.2128+10delG p.? Unknown 1:15942321-15942321 - TCGA-D1-A15X-01 COSM4871991 c.841G>A p.G281S Substitution - Missense 1:15945023-15945023 - HCC46 COSM3705193 c.1540C>T p.P514S Substitution - Missense 1:15943635-15943635 - A4 COSM4024588 c.790G>A p.E264K Substitution - Missense 1:15945074-15945074 - CSCC-7-T COSM4503639 c.644C>T p.S215F Substitution - Missense 1:15945732-15945732 - TCGA-EA-A1QS-01 COSM4831028 c.2231G>A p.R744Q Substitution - Missense 1:15942171-15942171 - HONE1 COSM4995308 c.281C>T p.A94V Substitution - Missense 1:15947048-15947048 - CHEWS030 COSM4576516 c.2356C>T p.R786C Substitution - Missense 1:15942046-15942046 - TCGA-CG-5721-01 COSM4024588 c.790G>A p.E264K Substitution - Missense 1:15945074-15945074 - T578 COSM4742081 c.1674C>T p.Y558Y Substitution - coding silent 1:15943422-15943422 - I2L-P7-Tumor-Organoid COSM5353678 c.576G>A p.P192P Substitution - coding silent 1:15945800-15945800 - TCGA-F4-6807-01 COSM1335821 c.1792G>T p.V598L Substitution - Missense 1:15943100-15943100 - TCGA-24-2298-01 COSM117556 c.1904C>G p.T635S Substitution - Missense 1:15942663-15942663 - TCGA-A6-6780-01 COSM5092478 c.2147_2149delAAG p.E716delE Deletion - In frame 1:15942331-15942333 - 16T COSM3711192 c.1491C>T p.S497S Substitution - coding silent 1:15943684-15943684 - TCGA-D1-A0ZO-01 COSM898771 c.1260C>T p.C420C Substitution - coding silent 1:15944411-15944411 - TCGA-85-6560-01 COSM4859832 c.1675G>A p.V559I Substitution - Missense 1:15943421-15943421 - TCGA-CD-A4MJ-01 COSM4024598 c.505C>T p.R169C Substitution - Missense 1:15946184-15946184 - LP6007401-DNA_A01 COSM5036091 c.1187G>A p.G396D Substitution - Missense 1:15944484-15944484 - TCGA-Q1-A73O-01 COSM4835797 c.4G>T p.D2Y Substitution - Missense 1:15948492-15948492 - Pat_24_A COSM4432142 c.2015C>T p.A672V Substitution - Missense 1:15942552-15942552 - TCGA-Q1-A73O-01 COSM4834276 c.1945G>A p.E649K Substitution - Missense 1:15942622-15942622 - PT50 COSM5936965 c.1493G>A p.G498E Substitution - Missense 1:15943682-15943682 - TCGA-B5-A11Y-01 COSM4864213 c.1991C>T p.T664M Substitution - Missense 1:15942576-15942576 - TCGA-BR-7716-01 COSM4024583 c.1749C>T p.I583I Substitution - coding silent 1:15943143-15943143 - TCGA-EK-A2RA-01 COSM4848427 c.662-1G>A p.? Unknown 1:15945203-15945203 - TCGA-DA-A1IC-06 COSM3477469 c.1452C>T p.T484T Substitution - coding silent 1:15943815-15943815 - HCT8 COSM4633380 c.1659C>T p.T553T Substitution - coding silent 1:15943437-15943437 - B66-0 COSM1747901 c.621T>C p.A207A Substitution - coding silent 1:15945755-15945755 - T3091 COSM4742085 c.1429C>T p.R477* Substitution - Nonsense 1:15943838-15943838 - TCGA-BR-6452-01 COSM4024612 c.122T>A p.V41E Substitution - Missense 1:15948374-15948374 - 8057528 COSM3385365 c.1163C>T p.A388V Substitution - Missense 1:15944508-15944508 - TCGA-A5-A0VQ-01 COSM4863317 c.1705C>T p.Q569* Substitution - Nonsense 1:15943187-15943187 - CSCC-62-T COSM4490328 c.361C>T p.P121S Substitution - Missense 1:15946968-15946968 - TCGA-F4-6570-01 COSM4784103 c.558C>T p.A186A Substitution - coding silent 1:15945818-15945818 - HCC46 COSM3705194 c.1540C>T p.P514S Substitution - Missense 1:15943635-15943635 - CSCC-10-T COSM4529043 c.1581G>A p.E527E Substitution - coding silent 1:15943515-15943515 - ESO-539 COSM1270695 c.2288G>A p.W763* Substitution - Nonsense 1:15942093-15942093 - TCGA-B5-A11Y-01 COSM898765 c.1991C>T p.T664M Substitution - Missense 1:15942576-15942576 - TCGA-BS-A0UA-01 COSM3355965 c.2039G>A p.G680D Substitution - Missense 1:15942441-15942441 - TCGA-Q1-A73O-01 COSM4835897 c.1831G>C p.E611Q Substitution - Missense 1:15942736-15942736 - Pat_53_B COSM5844311 c.1732C>T p.R578C Substitution - Missense 1:15943160-15943160 - LP6007427-DNA_A01 COSM5035293 c.948G>A p.T316T Substitution - coding silent 1:15944819-15944819 - TCGA-EK-A2RA-01 COSM4848428 c.662-1G>A p.? Unknown 1:15945203-15945203 - TCGA-CG-4442-01 COSM4024586 c.1372-2A>G p.? Unknown 1:15943897-15943897 - B63-Tumor COSM1747901 c.621T>C p.A207A Substitution - coding silent 1:15945755-15945755 - TCGA-B5-A11H-01 COSM4868039 c.1684C>T p.R562C Substitution - Missense 1:15943412-15943412 - CN-AML-CR-22-Dx COSM1747901 c.621T>C p.A207A Substitution - coding silent 1:15945755-15945755 - TCGA-EY-A1GS-01 COSM4868350 c.1290C>T p.P430P Substitution - coding silent 1:15944381-15944381 - OSCC-GB_00160111 COSM3711193 c.1491C>T p.S497S Substitution - coding silent 1:15943684-15943684 - RK308_C01 COSM3740793 c.2252C>G p.A751G Substitution - Missense 1:15942129-15942129 - TCGA-AC-A23H-01 COSM3802637 c.1093G>A p.E365K Substitution - Missense 1:15944578-15944578 - CHC793T COSM4801355 c.1914G>T p.Q638H Substitution - Missense 1:15942653-15942653 - H1155 COSM1196001 c.1873C>T p.R625W Substitution - Missense 1:15942694-15942694 - Pat_06_A COSM5844316 c.1037C>T p.P346L Substitution - Missense 1:15944730-15944730 - TCGA-BR-4184-01 COSM4024600 c.464G>A p.R155H Substitution - Missense 1:15946225-15946225 - TCGA-A5-A0VQ-01 COSM898766 c.1705C>T p.Q569* Substitution - Nonsense 1:15943187-15943187 - 19 COSM5745585 c.818G>A p.G273D Substitution - Missense 1:15945046-15945046 - TCGA-CG-4306-01 COSM4024581 c.2265G>A p.Q755Q Substitution - coding silent 1:15942137-15942137 - B63 COSM1747901 c.621T>C p.A207A Substitution - coding silent 1:15945755-15945755 - RK027_C01 COSM1626592 c.1512C>T p.C504C Substitution - coding silent 1:15943663-15943663 - I2L-P19Ta-Tumor-Biopsy COSM5352465 c.2128+10delG p.? Unknown 1:15942321-15942321 - 61 COSM5735274 c.847G>A p.E283K Substitution - Missense 1:15945017-15945017 - TCGA-BR-7716-01 COSM4024582 c.1749C>T p.I583I Substitution - coding silent 1:15943143-15943143 - TCGA-B5-A11H-01 COSM898767 c.1684C>T p.R562C Substitution - Missense 1:15943412-15943412 - TCGA-Q1-A73O-01 COSM4835053 c.1957G>A p.E653K Substitution - Missense 1:15942610-15942610 - PD11750a COSM5786517 c.42G>C p.L14L Substitution - coding silent 1:15948454-15948454 - TCGA-Q1-A73O-01 COSM4835010 c.2368G>A p.E790K Substitution - Missense 1:15942034-15942034 - PTC-7C COSM4142944 c.2398C>T p.P800S Substitution - Missense 1:15941983-15941983 - TCGA-A5-A0VP-01 COSM898782 c.374C>T p.A125V Substitution - Missense 1:15946955-15946955 - LC_C13 COSM1185334 c.2399C>T p.P800L Substitution - Missense 1:15941982-15941982 - 260211 COSM3725474 c.1008C>T p.C336C Substitution - coding silent 1:15944759-15944759 - PCSI_0083_Pa_P_526 COSM3849303 c.2172C>T p.Y724Y Substitution - coding silent 1:15942230-15942230 - ESCC-225T COSM3934224 c.1304G>A p.R435H Substitution - Missense 1:15944367-15944367 - TCGA-A6-5665-01 COSM1335820 c.1956T>C p.S652S Substitution - coding silent 1:15942611-15942611 - LUAD_E00623 COSM354077 c.451G>T p.E151* Substitution - Nonsense 1:15946238-15946238 - TCGA-EJ-5503-01 COSM1127289 c.109G>T p.A37S Substitution - Missense 1:15948387-15948387 - T30 COSM5618365 c.265G>A p.V89M Substitution - Missense 1:15947064-15947064 - TCGA-F4-6570-01 COSM1335823 c.558C>T p.A186A Substitution - coding silent 1:15945818-15945818 - sysucc-311T COSM4224548 c.1861C>T p.R621C Substitution - Missense 1:15942706-15942706 - TCGA-A6-6780-01 COSM1335819 c.2126_2128delAAG p.E709delE Deletion - In frame 1:15942331-15942333 - 260211 COSM3725475 c.1008C>T p.C336C Substitution - coding silent 1:15944759-15944759 - TCGA-Q1-A73O-01 COSM4835898 c.1831G>C p.E611Q Substitution - Missense 1:15942736-15942736 - CHC793T COSM4801354 c.1914G>T p.Q638H Substitution - Missense 1:15942653-15942653 - TCGA-CG-4442-01 COSM4024585 c.1690G>T p.G564C Substitution - Missense 1:15943406-15943406 - SC_9100 COSM5548892 c.527C>T p.A176V Substitution - Missense 1:15946162-15946162 - TCGA-DA-A1IC-06 COSM3477468 c.1452C>T p.T484T Substitution - coding silent 1:15943815-15943815 - T207 COSM4742087 c.463C>T p.R155C Substitution - Missense 1:15946226-15946226 - PD4844a COSM5771519 c.1171C>T p.R391C Substitution - Missense 1:15944500-15944500 - T207 COSM4742086 c.463C>T p.R155C Substitution - Missense 1:15946226-15946226 - U2940 COSM5622202 c.1921G>A p.A641T Substitution - Missense 1:15942646-15942646 - 587378 COSM1233127 c.1429C>T p.R477* Substitution - Nonsense 1:15943838-15943838 - PD9604a COSM5792676 c.1941G>A p.E647E Substitution - coding silent 1:15942626-15942626 - 8057528 COSM3385364 c.1163C>T p.A388V Substitution - Missense 1:15944508-15944508 - I2L-P7-Tumor-Organoid COSM5353676 c.576G>A p.P192P Substitution - coding silent 1:15945800-15945800 - T3724 COSM4742083 c.1561G>A p.V521I Substitution - Missense 1:15943614-15943614 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.433764 1p36.13 604084

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.1829-49T>G 1 16269282 CM A C Missense p.L197R c.590T>G 1 16272281 BRCA A - Frameshift p.L437Rfs*22 c.1310delT 1 16270856 CM A G IntronicSNV . c.1-11038T>C 1 16286028 CLL C A Missense p.A37S c.109G>T 1 16274882 PRAD CC TT Missense p.G781K c.2341_2342delinsAA 1 16268534 CM C G Missense p.E790D c.2370G>C 1 16268506 STAD C T IntronicSNV . c.2039-21G>A 1 16268936 UCEC C T IntronicSNV . c.2039-4G>A 1 16268919 STAD C T Missense p.C339Y c.1016G>A 1 16271246 CM C T Missense p.E231K c.691G>A 1 16271668 ESCA C T Missense p.E258K c.772G>A 1 16271587 CLL C T Missense p.E264K c.790G>A 1 16271569 UCEC C T Missense p.R522H c.1565G>A 1 16270105 HNSC C T Missense p.V559I c.1675G>A 1 16269916 LUSC C T Missense p.V683M c.2047G>A 1 16268907 LUAD C T Nonsense p.W763* c.2288G>A 1 16268588 ESCA C T Synonymous p.Q748Q c.2244G>A 1 16268632 STAD G A IntronicSNV . c.2039-39C>T 1 16268954 CM G A Missense p.A125V c.374C>T 1 16273450 UCEC G A Missense p.A176V c.527C>T 1 16272657 HNSC G A Missense p.R169C c.505C>T 1 16272679 SCLC G A Missense p.R562C c.1684C>T 1 16269907 UCEC G A Missense p.R625W c.1873C>T 1 16269189 STAD G A Missense p.T664M c.1991C>T 1 16269071 UCEC G A Nonsense p.Q569* c.1705C>T 1 16269682 UCEC G A Synonymous p.C504C c.1512C>T 1 16270158 HC G A Synonymous p.P430P c.1290C>T 1 16270876 UCEC G A Synonymous p.T484T c.1452C>T 1 16270310 CM G C Missense p.T635S c.1904C>G 1 16269158 OV G C Synonymous p.A107A c.321C>G 1 16273503 OV G C Synonymous p.L111L c.333C>G 1 16273491 HNSC G C Synonymous p.L197L c.591C>G 1 16272280 BRCA T C IntronicSNV . c.1-21654A>G 1 16296644 HC T C Missense p.Q748R c.2243A>G 1 16268633 GBM