Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 16 2215900 2215900 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr16:2215900C>T c.102C>T c.(100-102)ttC>ttT p.F34F BLCA 16 2222352 2222352 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 g.chr16:2222352C>T c.636C>T c.(634-636)ttC>ttT p.F212F BLCA 16 2225896 2225896 + Missense_Mutation SNP A A G TCGA-FJ-A3Z9-01A-11D-A26M-08 TCGA-FJ-A3Z9-10A-01D-A26K-08 g.chr16:2225896A>G c.1688A>G c.(1687-1689)tAc>tGc p.Y563C BLCA 16 2226345 2226345 + Frame_Shift_Del DEL G G - TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 g.chr16:2226345delG c.1958delG c.(1957-1959)cggfs p.R653fs BRCA 16 2220730 2220730 + Splice_Site SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 g.chr16:2220730C>T c.347C>T c.(346-348)cCg>cTg p.P116L BRCA 16 2222552 2222552 + Missense_Mutation SNP C C A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 g.chr16:2222552C>A c.746C>A c.(745-747)gCc>gAc p.A249D BRCA 16 2223196 2223196 + Frame_Shift_Del DEL G G - TCGA-E9-A1NI-01A-11W-A16H-09 TCGA-E9-A1NI-10A-01D-A17G-09 g.chr16:2223196delG c.808delG c.(808-810)gggfs p.G270fs BRCA 16 2223334 2223334 + Missense_Mutation SNP C C T TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr16:2223334C>T c.946C>T c.(946-948)Cgc>Tgc p.R316C BRCA 16 2225153 2225153 + Splice_Site SNP T T C TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 g.chr16:2225153T>C c.e15+2 BRCA 16 2226284 2226285 + Frame_Shift_Del DEL AT AT - TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 g.chr16:2226284_2226285delAT c.1897_1898delAT c.(1897-1899)atgfs p.M633fs CESC 16 2223241 2223241 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 g.chr16:2223241G>A c.853G>A c.(853-855)Gag>Aag p.E285K CESC 16 2225135 2225135 + Missense_Mutation SNP C C T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 g.chr16:2225135C>T c.1370C>T c.(1369-1371)gCa>gTa p.A457V CESC 16 2225536 2225536 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr16:2225536G>C c.1539G>C c.(1537-1539)aaG>aaC p.K513N COAD 16 2213960 2213961 + Frame_Shift_Ins INS - - G TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr16:2213960_2213961insG c.39_40insG c.(40-42)gggfs p.G14fs COAD 16 2220647 2220647 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr16:2220647C>T c.264C>T c.(262-264)tcC>tcT p.S88S COAD 16 2220721 2220721 + Missense_Mutation SNP A A G TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr16:2220721A>G c.338A>G c.(337-339)gAg>gGg p.E113G COAD 16 2221294 2221294 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr16:2221294G>A c.378G>A c.(376-378)tcG>tcA p.S126S COAD 16 2222203 2222203 + Missense_Mutation SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr16:2222203G>A c.487G>A c.(487-489)Gtg>Atg p.V163M COAD 16 2223484 2223484 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr16:2223484G>A c.1015G>A c.(1015-1017)Gtc>Atc p.V339I COAD 16 2223810 2223810 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr16:2223810G>A c.1108G>A c.(1108-1110)Gcg>Acg p.A370T COAD 16 2223967 2223967 + Missense_Mutation SNP G G T TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr16:2223967G>T c.1181G>T c.(1180-1182)gGc>gTc p.G394V COAD 16 2224032 2224032 + Missense_Mutation SNP T T C TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr16:2224032T>C c.1246T>C c.(1246-1248)Tct>Cct p.S416P COAD 16 2225555 2225555 + Missense_Mutation SNP A A T TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chr16:2225555A>T c.1558A>T c.(1558-1560)Aac>Tac p.N520Y COAD 16 2225596 2225596 + Silent SNP G G T TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr16:2225596G>T c.1599G>T c.(1597-1599)ctG>ctT p.L533L COADREAD 16 2213960 2213961 + Frame_Shift_Ins INS - - G TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr16:2213960_2213961insG c.39_40insG c.(40-42)gggfs p.G14fs COADREAD 16 2220647 2220647 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr16:2220647C>T c.264C>T c.(262-264)tcC>tcT p.S88S COADREAD 16 2220721 2220721 + Missense_Mutation SNP A A G TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr16:2220721A>G c.338A>G c.(337-339)gAg>gGg p.E113G COADREAD 16 2221294 2221294 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr16:2221294G>A c.378G>A c.(376-378)tcG>tcA p.S126S COADREAD 16 2222203 2222203 + Missense_Mutation SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr16:2222203G>A c.487G>A c.(487-489)Gtg>Atg p.V163M COADREAD 16 2223484 2223484 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr16:2223484G>A c.1015G>A c.(1015-1017)Gtc>Atc p.V339I COADREAD 16 2223810 2223810 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr16:2223810G>A c.1108G>A c.(1108-1110)Gcg>Acg p.A370T COADREAD 16 2223967 2223967 + Missense_Mutation SNP G G T TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr16:2223967G>T c.1181G>T c.(1180-1182)gGc>gTc p.G394V COADREAD 16 2224032 2224032 + Missense_Mutation SNP T T C TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr16:2224032T>C c.1246T>C c.(1246-1248)Tct>Cct p.S416P COADREAD 16 2225555 2225555 + Missense_Mutation SNP A A T TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chr16:2225555A>T c.1558A>T c.(1558-1560)Aac>Tac p.N520Y COADREAD 16 2225596 2225596 + Silent SNP G G T TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr16:2225596G>T c.1599G>T c.(1597-1599)ctG>ctT p.L533L DLBC 16 2226351 2226351 + Missense_Mutation SNP G G A TCGA-FA-A7Q1-01A-11D-A382-10 TCGA-FA-A7Q1-10A-01D-A385-10 g.chr16:2226351G>A c.1964G>A c.(1963-1965)cGa>cAa p.R655Q ESCA 16 2225837 2225837 + Silent SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 g.chr16:2225837C>T c.1629C>T c.(1627-1629)atC>atT p.I543I GBMLGG 16 2223509 2223509 + Missense_Mutation SNP T T C TCGA-HT-7677-01A-11D-2253-08 TCGA-HT-7677-10A-01D-2253-08 g.chr16:2223509T>C c.1040T>C c.(1039-1041)cTc>cCc p.L347P GBMLGG 16 2225554 2225554 + Silent SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 g.chr16:2225554C>T c.1557C>T c.(1555-1557)ctC>ctT p.L519L HNSC 16 2218133 2218133 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 g.chr16:2218133C>T c.195C>T c.(193-195)acC>acT p.T65T HNSC 16 2222339 2222339 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr16:2222339G>A c.623G>A c.(622-624)cGa>cAa p.R208Q HNSC 16 2226127 2226127 + Silent SNP C C T TCGA-QK-AA3J-01A-11D-A391-08 TCGA-QK-AA3J-10A-01D-A394-08 g.chr16:2226127C>T c.1824C>T c.(1822-1824)atC>atT p.I608I KICH 16 2226329 2226329 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr16:2226329G>A c.1942G>A c.(1942-1944)Gcg>Acg p.A648T KIPAN 16 2220688 2220688 + Missense_Mutation SNP C C G TCGA-B8-4621-01A-01D-1501-10 TCGA-B8-4621-10A-01D-1501-10 g.chr16:2220688C>G c.305C>G c.(304-306)tCt>tGt p.S102C KIPAN 16 2225568 2225568 + Missense_Mutation SNP G G A TCGA-BP-4983-01A-01D-1462-08 TCGA-BP-4983-11A-01D-1462-08 g.chr16:2225568G>A c.1571G>A c.(1570-1572)cGg>cAg p.R524Q KIPAN 16 2226329 2226329 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr16:2226329G>A c.1942G>A c.(1942-1944)Gcg>Acg p.A648T KIRC 16 2220688 2220688 + Missense_Mutation SNP C C G TCGA-B8-4621-01A-01D-1501-10 TCGA-B8-4621-10A-01D-1501-10 g.chr16:2220688C>G c.305C>G c.(304-306)tCt>tGt p.S102C KIRC 16 2225568 2225568 + Missense_Mutation SNP G G A TCGA-BP-4983-01A-01D-1462-08 TCGA-BP-4983-11A-01D-1462-08 g.chr16:2225568G>A c.1571G>A c.(1570-1572)cGg>cAg p.R524Q LGG 16 2223509 2223509 + Missense_Mutation SNP T T C TCGA-HT-7677-01A-11D-2253-08 TCGA-HT-7677-10A-01D-2253-08 g.chr16:2223509T>C c.1040T>C c.(1039-1041)cTc>cCc p.L347P LGG 16 2225554 2225554 + Silent SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 g.chr16:2225554C>T c.1557C>T c.(1555-1557)ctC>ctT p.L519L LIHC 16 2215890 2215890 + Missense_Mutation SNP A A C TCGA-K7-AAU7-01A-11D-A382-10 TCGA-K7-AAU7-10A-01D-A385-10 g.chr16:2215890A>C c.92A>C c.(91-93)gAa>gCa p.E31A LIHC 16 2218152 2218152 + Missense_Mutation SNP G G T TCGA-CC-A8HV-01A-11D-A35Z-10 TCGA-CC-A8HV-10A-01D-A35Z-10 g.chr16:2218152G>T c.214G>T c.(214-216)Gac>Tac p.D72Y LIHC 16 2221291 2221291 + Silent SNP C C G TCGA-UB-AA0V-01A-11D-A382-10 TCGA-UB-AA0V-10A-01D-A385-10 g.chr16:2221291C>G c.375C>G c.(373-375)ccC>ccG p.P125P LIHC 16 2225896 2225896 + Missense_Mutation SNP A A T TCGA-CC-5259-01A-31D-A20W-10 TCGA-CC-5259-10A-01D-A20W-10 g.chr16:2225896A>T c.1688A>T c.(1687-1689)tAc>tTc p.Y563F LUAD 16 2222317 2222317 + Missense_Mutation SNP C C T TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr16:2222317C>T c.601C>T c.(601-603)Ccc>Tcc p.P201S LUAD 16 2223814 2223814 + Missense_Mutation SNP G G T TCGA-97-8172-01A-11D-2284-08 TCGA-97-8172-10A-01D-2284-08 g.chr16:2223814G>T c.1112G>T c.(1111-1113)cGg>cTg p.R371L LUAD 16 2223983 2223983 + Silent SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 g.chr16:2223983G>T c.1197G>T c.(1195-1197)gtG>gtT p.V399V LUAD 16 2225359 2225359 + Missense_Mutation SNP G G C TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr16:2225359G>C c.1444G>C c.(1444-1446)Gtg>Ctg p.V482L LUAD 16 2225515 2225515 + Silent SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr16:2225515G>C c.1518G>C c.(1516-1518)gtG>gtC p.V506V LUAD 16 2226101 2226101 + Missense_Mutation SNP G G A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr16:2226101G>A c.1798G>A c.(1798-1800)Ggc>Agc p.G600S LUAD 16 2226102 2226102 + Missense_Mutation SNP G G T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr16:2226102G>T c.1799G>T c.(1798-1800)gGc>gTc p.G600V LUSC 16 2223818 2223818 + Silent SNP G G A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr16:2223818G>A c.1116G>A c.(1114-1116)ctG>ctA p.L372L OV 16 2223967 2223967 + Missense_Mutation SNP G G A TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 g.chr16:2223967G>A c.1181G>A c.(1180-1182)gGc>gAc p.G394D PAAD 16 2223366 2223366 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:2223366C>T c.978C>T c.(976-978)atC>atT p.I326I PAAD 16 2223811 2223811 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:2223811C>T c.1109C>T c.(1108-1110)gCg>gTg p.A370V PRAD 16 2223318 2223318 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:2223318G>T c.930G>T c.(928-930)caG>caT p.Q310H PRAD 16 2225572 2225572 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:2225572C>T c.1575C>T c.(1573-1575)gcC>gcT p.A525A PRAD 16 2226330 2226330 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr16:2226330C>T c.1943C>T c.(1942-1944)gCg>gTg p.A648V SARC 16 2215902 2215902 + Missense_Mutation SNP G G T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 g.chr16:2215902G>T c.104G>T c.(103-105)gGa>gTa p.G35V SARC 16 2220714 2220716 + In_Frame_Del DEL GAG GAG - TCGA-DX-A6YU-01A-12D-A33E-09 TCGA-DX-A6YU-10A-01D-A33H-09 g.chr16:2220714_2220716delGAG c.331_333delGAG c.(331-333)gagdel p.E115del SARC 16 2220714 2220716 + In_Frame_Del DEL GAG GAG - TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 g.chr16:2220714_2220716delGAG c.331_333delGAG c.(331-333)gagdel p.E115del SARC 16 2225556 2225556 + Missense_Mutation SNP A A G TCGA-DX-A1L4-01A-12D-A26G-09 TCGA-DX-A1L4-10A-01D-A26G-09 g.chr16:2225556A>G c.1559A>G c.(1558-1560)aAc>aGc p.N520S SKCM 16 2222201 2222201 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:2222201C>T c.485C>T c.(484-486)cCc>cTc p.P162L SKCM 16 2222336 2222336 + Missense_Mutation SNP C C T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr16:2222336C>T c.620C>T c.(619-621)cCc>cTc p.P207L SKCM 16 2223226 2223226 + Missense_Mutation SNP G G C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr16:2223226G>C c.838G>C c.(838-840)Gag>Cag p.E280Q SKCM 16 2223270 2223270 + Silent SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr16:2223270G>A c.882G>A c.(880-882)acG>acA p.T294T SKCM 16 2223538 2223538 + Missense_Mutation SNP G G T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr16:2223538G>T c.1069G>T c.(1069-1071)Gac>Tac p.D357Y SKCM 16 2225900 2225900 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr16:2225900C>T c.1692C>T c.(1690-1692)tcC>tcT p.S564S SKCM 16 2226162 2226162 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr16:2226162C>T c.1859C>T c.(1858-1860)tCc>tTc p.S620F

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 16 2226328 2226328 single base substitution C T downstream_gene_variant BLCA-CN 16 2226328 2226328 single base substitution C T synonymous_variant T647T 1941C>T BLCA-US 16 2215900 2215900 single base substitution C T exon_variant BLCA-US 16 2215900 2215900 single base substitution C T synonymous_variant F34F 102C>T BRCA-EU 16 2200946 2200946 single base substitution C T upstream_gene_variant BRCA-EU 16 2201004 2201004 single base substitution G T upstream_gene_variant BRCA-EU 16 2201339 2201339 single base substitution G T upstream_gene_variant BRCA-EU 16 2201421 2201421 single base substitution G A upstream_gene_variant BRCA-EU 16 2201838 2201838 single base substitution C T upstream_gene_variant BRCA-EU 16 2203668 2203668 single base substitution C G upstream_gene_variant BRCA-EU 16 2204672 2204672 single base substitution C T upstream_gene_variant BRCA-EU 16 2205365 2205365 single base substitution G T upstream_gene_variant BRCA-EU 16 2206044 2206044 single base substitution C G intron_variant BRCA-EU 16 2208048 2208048 single base substitution G A intron_variant BRCA-EU 16 2210061 2210061 single base substitution G T intron_variant BRCA-EU 16 2210061 2210061 single base substitution G T upstream_gene_variant BRCA-EU 16 2213631 2213631 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 16 2213631 2213631 single base substitution G T intron_variant BRCA-EU 16 2215469 2215469 single base substitution G A intron_variant BRCA-EU 16 2216127 2216127 single base substitution C T intron_variant BRCA-EU 16 2216915 2216915 single base substitution C G intron_variant BRCA-EU 16 2217335 2217335 single base substitution A C intron_variant BRCA-EU 16 2218869 2218869 single base substitution T A downstream_gene_variant BRCA-EU 16 2218869 2218869 single base substitution T A intron_variant BRCA-EU 16 2218869 2218869 single base substitution T A upstream_gene_variant BRCA-EU 16 2219697 2219697 single base substitution T C downstream_gene_variant BRCA-EU 16 2219697 2219697 single base substitution T C intron_variant BRCA-EU 16 2219697 2219697 single base substitution T C upstream_gene_variant BRCA-EU 16 2220402 2220402 single base substitution G A downstream_gene_variant BRCA-EU 16 2220402 2220402 single base substitution G A intron_variant BRCA-EU 16 2220402 2220402 single base substitution G A upstream_gene_variant BRCA-EU 16 2220536 2220536 single base substitution C T downstream_gene_variant BRCA-EU 16 2220536 2220536 single base substitution C T intron_variant BRCA-EU 16 2220536 2220536 single base substitution C T upstream_gene_variant BRCA-EU 16 2220930 2220930 single base substitution C G downstream_gene_variant BRCA-EU 16 2220930 2220930 single base substitution C G intron_variant BRCA-EU 16 2220930 2220930 single base substitution C G upstream_gene_variant BRCA-EU 16 2223443 2223443 single base substitution C T downstream_gene_variant BRCA-EU 16 2223443 2223443 single base substitution C T intron_variant BRCA-EU 16 2223443 2223443 single base substitution C T upstream_gene_variant BRCA-EU 16 2223944 2223944 single base substitution C G downstream_gene_variant BRCA-EU 16 2223944 2223944 single base substitution C G exon_variant BRCA-EU 16 2223944 2223944 single base substitution C G missense_variant F386L 1158C>G BRCA-EU 16 2223950 2223950 single base substitution C T downstream_gene_variant BRCA-EU 16 2223950 2223950 single base substitution C T exon_variant BRCA-EU 16 2223950 2223950 single base substitution C T synonymous_variant C388C 1164C>T BRCA-EU 16 2224846 2224846 single base substitution G A downstream_gene_variant BRCA-EU 16 2224846 2224846 single base substitution G A intron_variant BRCA-EU 16 2224878 2224878 single base substitution C T downstream_gene_variant BRCA-EU 16 2224878 2224878 single base substitution C T intron_variant BRCA-EU 16 2224948 2224948 single base substitution G T downstream_gene_variant BRCA-EU 16 2224948 2224948 single base substitution G T intron_variant BRCA-EU 16 2225294 2225294 single base substitution C G downstream_gene_variant BRCA-EU 16 2225294 2225294 single base substitution C G splice_region_variant BRCA-EU 16 2227179 2227179 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 2227179 2227179 single base substitution C T downstream_gene_variant BRCA-EU 16 2227995 2227995 single base substitution A C 3_prime_UTR_variant BRCA-EU 16 2227995 2227995 single base substitution A C downstream_gene_variant BRCA-EU 16 2228022 2228024 deletion of <=200bp AAT - 3_prime_UTR_variant BRCA-EU 16 2228022 2228024 deletion of <=200bp AAT - downstream_gene_variant BRCA-EU 16 2230543 2230543 single base substitution C A downstream_gene_variant BRCA-EU 16 2231025 2231025 single base substitution T C downstream_gene_variant BRCA-EU 16 2231170 2231170 single base substitution G A downstream_gene_variant BRCA-EU 16 2232303 2232303 single base substitution T G downstream_gene_variant BRCA-EU 16 2233015 2233015 single base substitution C G downstream_gene_variant BRCA-EU 16 2233108 2233108 single base substitution A G downstream_gene_variant BRCA-FR 16 2223381 2223381 single base substitution G A downstream_gene_variant BRCA-FR 16 2223381 2223381 single base substitution G A synonymous_variant K331K 993G>A BRCA-FR 16 2223381 2223381 single base substitution G A upstream_gene_variant BRCA-UK 16 2202038 2202038 single base substitution C T upstream_gene_variant BRCA-UK 16 2215004 2215004 single base substitution T C intron_variant BRCA-UK 16 2215096 2215096 single base substitution G A intron_variant BRCA-UK 16 2215126 2215126 single base substitution C G intron_variant BRCA-UK 16 2215194 2215194 single base substitution G T intron_variant BRCA-UK 16 2218508 2218508 single base substitution G C exon_variant BRCA-UK 16 2218508 2218508 single base substitution G C intron_variant BRCA-UK 16 2227995 2227995 single base substitution A C 3_prime_UTR_variant BRCA-UK 16 2227995 2227995 single base substitution A C downstream_gene_variant BRCA-US 16 2201891 2201891 single base substitution C T upstream_gene_variant BRCA-US 16 2203026 2203027 deletion of <=200bp GA - upstream_gene_variant BRCA-US 16 2220730 2220730 single base substitution C T downstream_gene_variant BRCA-US 16 2220730 2220730 single base substitution C T missense_variant P116L 347C>T BRCA-US 16 2220730 2220730 single base substitution C T splice_region_variant BRCA-US 16 2220730 2220730 single base substitution C T upstream_gene_variant BRCA-US 16 2222552 2222552 single base substitution C A 3_prime_UTR_variant BRCA-US 16 2222552 2222552 single base substitution C A downstream_gene_variant BRCA-US 16 2222552 2222552 single base substitution C A missense_variant A249D 746C>A BRCA-US 16 2222552 2222552 single base substitution C A upstream_gene_variant BRCA-US 16 2223196 2223196 deletion of <=200bp G - downstream_gene_variant BRCA-US 16 2223196 2223196 deletion of <=200bp G - frameshift_variant G270 BRCA-US 16 2223196 2223196 deletion of <=200bp G - upstream_gene_variant BRCA-US 16 2223334 2223334 single base substitution C T downstream_gene_variant BRCA-US 16 2223334 2223334 single base substitution C T missense_variant R316C 946C>T BRCA-US 16 2223334 2223334 single base substitution C T upstream_gene_variant BRCA-US 16 2225153 2225153 single base substitution T C downstream_gene_variant BRCA-US 16 2225153 2225153 single base substitution T C exon_variant BRCA-US 16 2225153 2225153 single base substitution T C splice_donor_variant BRCA-US 16 2226284 2226285 deletion of <=200bp AT - downstream_gene_variant BRCA-US 16 2226284 2226285 deletion of <=200bp AT - frameshift_variant M633 BRCA-US 16 2229628 2229628 single base substitution G A downstream_gene_variant BRCA-US 16 2231334 2231334 single base substitution A G downstream_gene_variant BRCA-US 16 2231353 2231353 single base substitution C G downstream_gene_variant BTCA-JP 16 2203209 2203209 single base substitution C A upstream_gene_variant BTCA-JP 16 2203444 2203444 single base substitution T C upstream_gene_variant BTCA-JP 16 2205099 2205100 deletion of <=200bp CA - upstream_gene_variant BTCA-JP 16 2223835 2223835 single base substitution G A downstream_gene_variant BTCA-JP 16 2223835 2223835 single base substitution G A missense_variant G378D 1133G>A BTCA-JP 16 2223835 2223835 single base substitution G A splice_region_variant BTCA-JP 16 2225340 2225340 single base substitution C A downstream_gene_variant BTCA-JP 16 2225340 2225340 single base substitution C A synonymous_variant I475I 1425C>A BTCA-JP 16 2225373 2225375 deletion of <=200bp CTC - downstream_gene_variant BTCA-JP 16 2225373 2225375 deletion of <=200bp CTC - inframe_deletion VS486V BTCA-JP 16 2226309 2226309 single base substitution G A downstream_gene_variant BTCA-JP 16 2226309 2226309 single base substitution G A missense_variant R641H 1922G>A BTCA-JP 16 2228683 2228683 single base substitution G T downstream_gene_variant BTCA-JP 16 2231642 2231642 single base substitution G A downstream_gene_variant CESC-US 16 2201859 2201859 single base substitution C G upstream_gene_variant CESC-US 16 2201870 2201870 single base substitution C G upstream_gene_variant CESC-US 16 2223241 2223241 single base substitution G A downstream_gene_variant CESC-US 16 2223241 2223241 single base substitution G A missense_variant E285K 853G>A CESC-US 16 2223241 2223241 single base substitution G A upstream_gene_variant CESC-US 16 2225135 2225135 single base substitution C T downstream_gene_variant CESC-US 16 2225135 2225135 single base substitution C T exon_variant CESC-US 16 2225135 2225135 single base substitution C T missense_variant A457V 1370C>T CESC-US 16 2225536 2225536 single base substitution G C downstream_gene_variant CESC-US 16 2225536 2225536 single base substitution G C missense_variant K513N 1539G>C CLLE-ES 16 2212077 2212077 single base substitution C T intron_variant CLLE-ES 16 2212077 2212077 single base substitution C T upstream_gene_variant CLLE-ES 16 2219009 2219009 single base substitution G A downstream_gene_variant CLLE-ES 16 2219009 2219009 single base substitution G A intron_variant CLLE-ES 16 2219009 2219009 single base substitution G A upstream_gene_variant CLLE-ES 16 2222441 2222441 single base substitution C T downstream_gene_variant CLLE-ES 16 2222441 2222441 single base substitution C T intron_variant CLLE-ES 16 2222441 2222441 single base substitution C T upstream_gene_variant CLLE-ES 16 2229174 2229174 single base substitution C T downstream_gene_variant COAD-US 16 2203224 2203224 insertion of <=200bp - T upstream_gene_variant COAD-US 16 2220647 2220647 single base substitution C T 3_prime_UTR_variant COAD-US 16 2220647 2220647 single base substitution C T downstream_gene_variant COAD-US 16 2220647 2220647 single base substitution C T exon_variant COAD-US 16 2220647 2220647 single base substitution C T synonymous_variant S88S 264C>T COAD-US 16 2220647 2220647 single base substitution C T upstream_gene_variant COAD-US 16 2222203 2222203 single base substitution G A 3_prime_UTR_variant COAD-US 16 2222203 2222203 single base substitution G A downstream_gene_variant COAD-US 16 2222203 2222203 single base substitution G A missense_variant V163M 487G>A COAD-US 16 2222203 2222203 single base substitution G A upstream_gene_variant COAD-US 16 2223484 2223484 single base substitution G A downstream_gene_variant COAD-US 16 2223484 2223484 single base substitution G A missense_variant V339I 1015G>A COAD-US 16 2223484 2223484 single base substitution G A upstream_gene_variant COAD-US 16 2225596 2225596 single base substitution G T downstream_gene_variant COAD-US 16 2225596 2225596 single base substitution G T synonymous_variant L533L 1599G>T COAD-US 16 2226121 2226121 single base substitution G A downstream_gene_variant COAD-US 16 2226121 2226121 single base substitution G A synonymous_variant A606A 1818G>A COAD-US 16 2229707 2229707 single base substitution G A downstream_gene_variant COAD-US 16 2230038 2230038 single base substitution C T downstream_gene_variant COAD-US 16 2230867 2230867 single base substitution G A downstream_gene_variant COAD-US 16 2231037 2231037 deletion of <=200bp G - downstream_gene_variant COAD-US 16 2231521 2231521 insertion of <=200bp - C downstream_gene_variant COCA-CN 16 2201270 2201270 single base substitution G C upstream_gene_variant COCA-CN 16 2202941 2202941 single base substitution A T upstream_gene_variant COCA-CN 16 2205045 2205045 single base substitution A C upstream_gene_variant COCA-CN 16 2214162 2214162 single base substitution C T intron_variant COCA-CN 16 2214164 2214164 single base substitution C T intron_variant COCA-CN 16 2215918 2215918 single base substitution C T exon_variant COCA-CN 16 2215918 2215918 single base substitution C T synonymous_variant A40A 120C>T COCA-CN 16 2221253 2221253 single base substitution G A downstream_gene_variant COCA-CN 16 2221253 2221253 single base substitution G A intron_variant COCA-CN 16 2221253 2221253 single base substitution G A upstream_gene_variant COCA-CN 16 2222378 2222378 single base substitution A G downstream_gene_variant COCA-CN 16 2222378 2222378 single base substitution A G splice_region_variant COCA-CN 16 2222378 2222378 single base substitution A G upstream_gene_variant COCA-CN 16 2222379 2222379 single base substitution A C downstream_gene_variant COCA-CN 16 2222379 2222379 single base substitution A C splice_region_variant COCA-CN 16 2222379 2222379 single base substitution A C upstream_gene_variant COCA-CN 16 2222391 2222391 single base substitution T C downstream_gene_variant COCA-CN 16 2222391 2222391 single base substitution T C intron_variant COCA-CN 16 2222391 2222391 single base substitution T C upstream_gene_variant COCA-CN 16 2223325 2223325 single base substitution G A downstream_gene_variant COCA-CN 16 2223325 2223325 single base substitution G A missense_variant A313T 937G>A COCA-CN 16 2223325 2223325 single base substitution G A upstream_gene_variant COCA-CN 16 2223541 2223541 single base substitution G A downstream_gene_variant COCA-CN 16 2223541 2223541 single base substitution G A exon_variant COCA-CN 16 2223541 2223541 single base substitution G A missense_variant A358T 1072G>A COCA-CN 16 2226345 2226345 single base substitution G A downstream_gene_variant COCA-CN 16 2226345 2226345 single base substitution G A missense_variant R653Q 1958G>A COCA-CN 16 2230181 2230181 single base substitution C T downstream_gene_variant COCA-CN 16 2230482 2230482 single base substitution C A downstream_gene_variant COCA-CN 16 2231613 2231613 single base substitution C A downstream_gene_variant COCA-CN 16 2232066 2232066 single base substitution A T downstream_gene_variant EOPC-DE 16 2214304 2214304 single base substitution A G intron_variant EOPC-DE 16 2215716 2215716 single base substitution A G intron_variant EOPC-DE 16 2222872 2222872 single base substitution T G downstream_gene_variant EOPC-DE 16 2222872 2222872 single base substitution T G intron_variant EOPC-DE 16 2222872 2222872 single base substitution T G upstream_gene_variant ESAD-UK 16 2201537 2201537 single base substitution C T upstream_gene_variant ESAD-UK 16 2202256 2202256 single base substitution C A upstream_gene_variant ESAD-UK 16 2202319 2202319 single base substitution C T upstream_gene_variant ESAD-UK 16 2202846 2202864 deletion of <=200bp ACGCCCAGCACGACGTGGC - upstream_gene_variant ESAD-UK 16 2202957 2202957 single base substitution C A upstream_gene_variant ESAD-UK 16 2204485 2204485 single base substitution C G upstream_gene_variant ESAD-UK 16 2205516 2205516 single base substitution G T upstream_gene_variant ESAD-UK 16 2207740 2207740 single base substitution C T intron_variant ESAD-UK 16 2208043 2208043 single base substitution G T intron_variant ESAD-UK 16 2212048 2212048 single base substitution C T intron_variant ESAD-UK 16 2212048 2212048 single base substitution C T upstream_gene_variant ESAD-UK 16 2214171 2214171 single base substitution G A intron_variant ESAD-UK 16 2216595 2216595 single base substitution G A intron_variant ESAD-UK 16 2216760 2216760 single base substitution C G intron_variant ESAD-UK 16 2220080 2220080 single base substitution C T downstream_gene_variant ESAD-UK 16 2220080 2220080 single base substitution C T intron_variant ESAD-UK 16 2220080 2220080 single base substitution C T upstream_gene_variant ESAD-UK 16 2220469 2220469 single base substitution C T downstream_gene_variant ESAD-UK 16 2220469 2220469 single base substitution C T intron_variant ESAD-UK 16 2220469 2220469 single base substitution C T upstream_gene_variant ESAD-UK 16 2222769 2222769 single base substitution G C downstream_gene_variant ESAD-UK 16 2222769 2222769 single base substitution G C intron_variant ESAD-UK 16 2222769 2222769 single base substitution G C upstream_gene_variant ESAD-UK 16 2224345 2224345 single base substitution G A downstream_gene_variant ESAD-UK 16 2224345 2224345 single base substitution G A intron_variant ESAD-UK 16 2226703 2226703 single base substitution C T 3_prime_UTR_variant ESAD-UK 16 2226703 2226703 single base substitution C T downstream_gene_variant ESAD-UK 16 2226850 2226850 single base substitution G A 3_prime_UTR_variant ESAD-UK 16 2226850 2226850 single base substitution G A downstream_gene_variant ESAD-UK 16 2228511 2228511 single base substitution G T downstream_gene_variant ESAD-UK 16 2228537 2228537 single base substitution C T downstream_gene_variant ESAD-UK 16 2228538 2228538 single base substitution G T downstream_gene_variant ESAD-UK 16 2228855 2228855 single base substitution C T downstream_gene_variant ESAD-UK 16 2230600 2230600 single base substitution G A downstream_gene_variant ESAD-UK 16 2231417 2231417 single base substitution G A downstream_gene_variant ESAD-UK 16 2232422 2232422 single base substitution C T downstream_gene_variant ESAD-UK 16 2232955 2232955 single base substitution C T downstream_gene_variant ESCA-CN 16 2221592 2221592 single base substitution G A 3_prime_UTR_variant ESCA-CN 16 2221592 2221592 single base substitution G A downstream_gene_variant ESCA-CN 16 2221592 2221592 single base substitution G A missense_variant C154Y 461G>A ESCA-CN 16 2221592 2221592 single base substitution G A upstream_gene_variant ESCA-CN 16 2230798 2230798 single base substitution C T downstream_gene_variant GBM-US 16 2231462 2231462 single base substitution G A downstream_gene_variant KIRC-US 16 2220688 2220688 single base substitution C G 3_prime_UTR_variant KIRC-US 16 2220688 2220688 single base substitution C G downstream_gene_variant KIRC-US 16 2220688 2220688 single base substitution C G exon_variant KIRC-US 16 2220688 2220688 single base substitution C G missense_variant S102C 305C>G KIRC-US 16 2220688 2220688 single base substitution C G upstream_gene_variant KIRC-US 16 2225568 2225568 single base substitution G A downstream_gene_variant KIRC-US 16 2225568 2225568 single base substitution G A missense_variant R524Q 1571G>A KIRC-US 16 2230531 2230531 insertion of <=200bp - G downstream_gene_variant KIRP-US 16 2201715 2201715 single base substitution A G upstream_gene_variant LAML-KR 16 2214784 2214784 single base substitution T G intron_variant LAML-KR 16 2215194 2215194 single base substitution G T intron_variant LAML-KR 16 2215373 2215373 single base substitution C T intron_variant LGG-US 16 2202854 2202854 single base substitution C T upstream_gene_variant LGG-US 16 2223509 2223509 single base substitution T C downstream_gene_variant LGG-US 16 2223509 2223509 single base substitution T C missense_variant L347P 1040T>C LGG-US 16 2223509 2223509 single base substitution T C upstream_gene_variant LGG-US 16 2230409 2230409 single base substitution C T downstream_gene_variant LICA-CN 16 2213951 2213951 single base substitution C T exon_variant LICA-CN 16 2213951 2213951 single base substitution C T synonymous_variant N10N 30C>T LICA-CN 16 2230588 2230588 single base substitution G T downstream_gene_variant LICA-FR 16 2201751 2201751 single base substitution G T upstream_gene_variant LICA-FR 16 2213385 2213385 single base substitution A G intron_variant LICA-FR 16 2213385 2213385 single base substitution A G upstream_gene_variant LICA-FR 16 2218103 2218103 single base substitution G C 3_prime_UTR_variant LICA-FR 16 2218103 2218103 single base substitution G C exon_variant LICA-FR 16 2218103 2218103 single base substitution G C missense_variant Q55H 165G>C LICA-FR 16 2218104 2218104 single base substitution C A 3_prime_UTR_variant LICA-FR 16 2218104 2218104 single base substitution C A exon_variant LICA-FR 16 2218104 2218104 single base substitution C A missense_variant H56N 166C>A LICA-FR 16 2223213 2223213 single base substitution C T downstream_gene_variant LICA-FR 16 2223213 2223213 single base substitution C T synonymous_variant Y275Y 825C>T LICA-FR 16 2223213 2223213 single base substitution C T upstream_gene_variant LICA-FR 16 2223271 2223271 single base substitution G A downstream_gene_variant LICA-FR 16 2223271 2223271 single base substitution G A missense_variant D295N 883G>A LICA-FR 16 2223271 2223271 single base substitution G A upstream_gene_variant LICA-FR 16 2223537 2223537 single base substitution G T downstream_gene_variant LICA-FR 16 2223537 2223537 single base substitution G T exon_variant LICA-FR 16 2223537 2223537 single base substitution G T synonymous_variant R356R 1068G>T LICA-FR 16 2229736 2229736 single base substitution C T downstream_gene_variant LICA-FR 16 2230384 2230384 single base substitution C A downstream_gene_variant LIHC-US 16 2225896 2225896 single base substitution A T downstream_gene_variant LIHC-US 16 2225896 2225896 single base substitution A T missense_variant Y563F 1688A>T LINC-JP 16 2201006 2201006 single base substitution G A upstream_gene_variant LINC-JP 16 2202059 2202059 single base substitution T C upstream_gene_variant LINC-JP 16 2208076 2208076 single base substitution C G intron_variant LINC-JP 16 2214173 2214173 single base substitution G A intron_variant LINC-JP 16 2214552 2214552 single base substitution C G intron_variant LINC-JP 16 2220601 2220601 single base substitution C A downstream_gene_variant LINC-JP 16 2220601 2220601 single base substitution C A intron_variant LINC-JP 16 2220601 2220601 single base substitution C A upstream_gene_variant LINC-JP 16 2226431 2226431 single base substitution G A downstream_gene_variant LINC-JP 16 2226431 2226431 single base substitution G A intron_variant LIRI-JP 16 2201678 2201678 single base substitution C A upstream_gene_variant LIRI-JP 16 2204258 2204258 single base substitution A G upstream_gene_variant LIRI-JP 16 2205311 2205311 single base substitution G T upstream_gene_variant LIRI-JP 16 2207788 2207788 single base substitution G A intron_variant LIRI-JP 16 2209971 2209971 single base substitution C T intron_variant LIRI-JP 16 2209971 2209971 single base substitution C T upstream_gene_variant LIRI-JP 16 2210791 2210791 single base substitution C T intron_variant LIRI-JP 16 2210791 2210791 single base substitution C T upstream_gene_variant LIRI-JP 16 2211763 2211763 single base substitution C A intron_variant LIRI-JP 16 2211763 2211763 single base substitution C A upstream_gene_variant LIRI-JP 16 2213065 2213065 single base substitution A G intron_variant LIRI-JP 16 2213065 2213065 single base substitution A G upstream_gene_variant LIRI-JP 16 2219582 2219582 single base substitution C T downstream_gene_variant LIRI-JP 16 2219582 2219582 single base substitution C T intron_variant LIRI-JP 16 2219582 2219582 single base substitution C T upstream_gene_variant LIRI-JP 16 2219662 2219662 single base substitution T A downstream_gene_variant LIRI-JP 16 2219662 2219662 single base substitution T A intron_variant LIRI-JP 16 2219662 2219662 single base substitution T A upstream_gene_variant LIRI-JP 16 2220502 2220502 single base substitution G T downstream_gene_variant LIRI-JP 16 2220502 2220502 single base substitution G T intron_variant LIRI-JP 16 2220502 2220502 single base substitution G T upstream_gene_variant LIRI-JP 16 2230325 2230325 insertion of <=200bp - C downstream_gene_variant LUSC-KR 16 2203928 2203928 single base substitution A G upstream_gene_variant LUSC-KR 16 2205290 2205290 single base substitution C T upstream_gene_variant LUSC-KR 16 2205325 2205325 single base substitution C A upstream_gene_variant LUSC-KR 16 2211206 2211206 single base substitution C T intron_variant LUSC-KR 16 2211206 2211206 single base substitution C T upstream_gene_variant LUSC-KR 16 2214456 2214456 single base substitution T G intron_variant LUSC-KR 16 2214717 2214717 single base substitution C T intron_variant LUSC-KR 16 2215003 2215003 single base substitution C G intron_variant LUSC-KR 16 2215325 2215325 single base substitution T C intron_variant LUSC-KR 16 2215373 2215373 single base substitution C T intron_variant LUSC-KR 16 2215440 2215440 single base substitution T G intron_variant LUSC-KR 16 2229726 2229726 single base substitution C T downstream_gene_variant LUSC-KR 16 2230582 2230582 single base substitution G T downstream_gene_variant LUSC-US 16 2202841 2202841 single base substitution C A upstream_gene_variant LUSC-US 16 2203412 2203412 single base substitution G T upstream_gene_variant LUSC-US 16 2223818 2223818 single base substitution G A downstream_gene_variant LUSC-US 16 2223818 2223818 single base substitution G A exon_variant LUSC-US 16 2223818 2223818 single base substitution G A synonymous_variant L372L 1116G>A MALY-DE 16 2205143 2205143 single base substitution C T upstream_gene_variant MALY-DE 16 2205153 2205153 single base substitution G A upstream_gene_variant MALY-DE 16 2216589 2216589 single base substitution G T intron_variant MALY-DE 16 2223142 2223142 single base substitution G A downstream_gene_variant MALY-DE 16 2223142 2223142 single base substitution G A intron_variant MALY-DE 16 2223142 2223142 single base substitution G A upstream_gene_variant MALY-DE 16 2226396 2226396 single base substitution G A downstream_gene_variant MALY-DE 16 2226396 2226396 single base substitution G A intron_variant MALY-DE 16 2228239 2228239 single base substitution C A downstream_gene_variant MALY-DE 16 2228291 2228291 single base substitution G A downstream_gene_variant MALY-DE 16 2230174 2230174 single base substitution C T downstream_gene_variant MALY-DE 16 2230622 2230622 single base substitution C T downstream_gene_variant MELA-AU 16 2200884 2200884 single base substitution G A upstream_gene_variant MELA-AU 16 2201100 2201100 single base substitution G A upstream_gene_variant MELA-AU 16 2201251 2201251 single base substitution G A upstream_gene_variant MELA-AU 16 2201791 2201792 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 2202235 2202235 single base substitution A G upstream_gene_variant MELA-AU 16 2202362 2202362 single base substitution G A upstream_gene_variant MELA-AU 16 2202626 2202626 single base substitution G A upstream_gene_variant MELA-AU 16 2202645 2202645 single base substitution G A upstream_gene_variant MELA-AU 16 2202681 2202681 single base substitution G A upstream_gene_variant MELA-AU 16 2202955 2202955 single base substitution G A upstream_gene_variant MELA-AU 16 2203046 2203046 single base substitution G A upstream_gene_variant MELA-AU 16 2203410 2203410 single base substitution C G upstream_gene_variant MELA-AU 16 2204047 2204047 single base substitution G A upstream_gene_variant MELA-AU 16 2205426 2205426 single base substitution G A upstream_gene_variant MELA-AU 16 2205437 2205437 single base substitution C G upstream_gene_variant MELA-AU 16 2205441 2205441 single base substitution C T upstream_gene_variant MELA-AU 16 2205441 2205442 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 2205443 2205443 single base substitution C T upstream_gene_variant MELA-AU 16 2205466 2205466 single base substitution C T upstream_gene_variant MELA-AU 16 2205652 2205652 single base substitution G A upstream_gene_variant MELA-AU 16 2205729 2205729 single base substitution A G exon_variant MELA-AU 16 2205729 2205729 single base substitution A G upstream_gene_variant MELA-AU 16 2206309 2206309 single base substitution T C intron_variant MELA-AU 16 2206798 2206799 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 2207278 2207278 single base substitution C T intron_variant MELA-AU 16 2209540 2209540 single base substitution T C intron_variant MELA-AU 16 2209540 2209540 single base substitution T C upstream_gene_variant MELA-AU 16 2209934 2209934 single base substitution C T intron_variant MELA-AU 16 2209934 2209934 single base substitution C T upstream_gene_variant MELA-AU 16 2209938 2209938 single base substitution C T intron_variant MELA-AU 16 2209938 2209938 single base substitution C T upstream_gene_variant MELA-AU 16 2211646 2211646 single base substitution C T intron_variant MELA-AU 16 2211646 2211646 single base substitution C T upstream_gene_variant MELA-AU 16 2211819 2211820 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 2211819 2211820 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 2211896 2211896 single base substitution C T intron_variant MELA-AU 16 2211896 2211896 single base substitution C T upstream_gene_variant MELA-AU 16 2212048 2212048 single base substitution C T intron_variant MELA-AU 16 2212048 2212048 single base substitution C T upstream_gene_variant MELA-AU 16 2212072 2212072 single base substitution A G intron_variant MELA-AU 16 2212072 2212072 single base substitution A G upstream_gene_variant MELA-AU 16 2212185 2212186 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 2212185 2212186 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 2212588 2212588 single base substitution C T intron_variant MELA-AU 16 2212588 2212588 single base substitution C T upstream_gene_variant MELA-AU 16 2213006 2213007 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 2213006 2213007 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 2213037 2213037 single base substitution C T intron_variant MELA-AU 16 2213037 2213037 single base substitution C T upstream_gene_variant MELA-AU 16 2213614 2213614 single base substitution A C 5_prime_UTR_variant MELA-AU 16 2213614 2213614 single base substitution A C intron_variant MELA-AU 16 2214480 2214480 single base substitution C T intron_variant MELA-AU 16 2214644 2214644 single base substitution C T intron_variant MELA-AU 16 2215013 2215013 single base substitution C T intron_variant MELA-AU 16 2215095 2215095 single base substitution C T intron_variant MELA-AU 16 2215546 2215546 single base substitution C T intron_variant MELA-AU 16 2215710 2215710 single base substitution C T intron_variant MELA-AU 16 2215901 2215901 single base substitution G A exon_variant MELA-AU 16 2215901 2215901 single base substitution G A missense_variant G35R 103G>A MELA-AU 16 2215987 2215987 single base substitution C T intron_variant MELA-AU 16 2216191 2216191 single base substitution C T intron_variant MELA-AU 16 2216456 2216456 single base substitution C G intron_variant MELA-AU 16 2216599 2216599 single base substitution C T intron_variant MELA-AU 16 2216671 2216671 single base substitution G A intron_variant MELA-AU 16 2217080 2217080 single base substitution C T intron_variant MELA-AU 16 2217254 2217254 single base substitution C T intron_variant MELA-AU 16 2217490 2217491 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 16 2217505 2217505 single base substitution C T intron_variant MELA-AU 16 2217630 2217630 single base substitution G A intron_variant MELA-AU 16 2217687 2217688 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 2217959 2217960 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 2218888 2218888 single base substitution G A downstream_gene_variant MELA-AU 16 2218888 2218888 single base substitution G A intron_variant MELA-AU 16 2218888 2218888 single base substitution G A upstream_gene_variant MELA-AU 16 2219009 2219010 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 2219009 2219010 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 2219009 2219010 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 2219109 2219109 single base substitution C T downstream_gene_variant MELA-AU 16 2219109 2219109 single base substitution C T intron_variant MELA-AU 16 2219109 2219109 single base substitution C T upstream_gene_variant MELA-AU 16 2219765 2219765 single base substitution C T downstream_gene_variant MELA-AU 16 2219765 2219765 single base substitution C T intron_variant MELA-AU 16 2219765 2219765 single base substitution C T upstream_gene_variant MELA-AU 16 2219765 2219766 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 2219765 2219766 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 2219765 2219766 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 2220548 2220548 single base substitution G T downstream_gene_variant MELA-AU 16 2220548 2220548 single base substitution G T intron_variant MELA-AU 16 2220548 2220548 single base substitution G T upstream_gene_variant MELA-AU 16 2221431 2221431 single base substitution G A downstream_gene_variant MELA-AU 16 2221431 2221431 single base substitution G A intron_variant MELA-AU 16 2221431 2221431 single base substitution G A upstream_gene_variant MELA-AU 16 2222161 2222161 single base substitution C T downstream_gene_variant MELA-AU 16 2222161 2222161 single base substitution C T intron_variant MELA-AU 16 2222161 2222161 single base substitution C T upstream_gene_variant MELA-AU 16 2222388 2222388 single base substitution C T downstream_gene_variant MELA-AU 16 2222388 2222388 single base substitution C T intron_variant MELA-AU 16 2222388 2222388 single base substitution C T upstream_gene_variant MELA-AU 16 2222456 2222456 single base substitution C T downstream_gene_variant MELA-AU 16 2222456 2222456 single base substitution C T intron_variant MELA-AU 16 2222456 2222456 single base substitution C T upstream_gene_variant MELA-AU 16 2223146 2223146 single base substitution G A downstream_gene_variant MELA-AU 16 2223146 2223146 single base substitution G A intron_variant MELA-AU 16 2223146 2223146 single base substitution G A upstream_gene_variant MELA-AU 16 2223516 2223517 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 2223516 2223517 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 16 2223516 2223517 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant ED349EN MELA-AU 16 2225253 2225253 single base substitution C T downstream_gene_variant MELA-AU 16 2225253 2225253 single base substitution C T intron_variant MELA-AU 16 2225728 2225729 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 2225728 2225729 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 2225765 2225766 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 16 2225765 2225766 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 16 2225823 2225823 single base substitution G A downstream_gene_variant MELA-AU 16 2225823 2225823 single base substitution G A intron_variant MELA-AU 16 2225856 2225856 single base substitution G C downstream_gene_variant MELA-AU 16 2225856 2225856 single base substitution G C missense_variant D550H 1648G>C MELA-AU 16 2226162 2226162 single base substitution C T downstream_gene_variant MELA-AU 16 2226162 2226162 single base substitution C T missense_variant S620F 1859C>T MELA-AU 16 2226199 2226199 single base substitution G A downstream_gene_variant MELA-AU 16 2226199 2226199 single base substitution G A intron_variant MELA-AU 16 2226550 2226550 single base substitution T C downstream_gene_variant MELA-AU 16 2226550 2226550 single base substitution T C intron_variant MELA-AU 16 2227775 2227775 single base substitution G A 3_prime_UTR_variant MELA-AU 16 2227775 2227775 single base substitution G A downstream_gene_variant MELA-AU 16 2228213 2228213 single base substitution T A downstream_gene_variant MELA-AU 16 2228584 2228584 single base substitution G A downstream_gene_variant MELA-AU 16 2228735 2228736 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 2230329 2230329 single base substitution C T downstream_gene_variant MELA-AU 16 2231148 2231148 single base substitution C T downstream_gene_variant MELA-AU 16 2231859 2231859 single base substitution G C downstream_gene_variant MELA-AU 16 2232042 2232042 single base substitution G A downstream_gene_variant MELA-AU 16 2232366 2232366 single base substitution G A downstream_gene_variant ORCA-IN 16 2213407 2213407 single base substitution G A intron_variant ORCA-IN 16 2213407 2213407 single base substitution G A upstream_gene_variant ORCA-IN 16 2214511 2214511 single base substitution C G intron_variant ORCA-IN 16 2221252 2221252 single base substitution C T downstream_gene_variant ORCA-IN 16 2221252 2221252 single base substitution C T intron_variant ORCA-IN 16 2221252 2221252 single base substitution C T upstream_gene_variant ORCA-IN 16 2225088 2225088 single base substitution G A downstream_gene_variant ORCA-IN 16 2225088 2225088 single base substitution G A intron_variant OV-AU 16 2202858 2202858 single base substitution A G upstream_gene_variant OV-AU 16 2204538 2204538 single base substitution C T upstream_gene_variant OV-AU 16 2209170 2209170 single base substitution A C intron_variant OV-AU 16 2209170 2209170 single base substitution A C upstream_gene_variant OV-AU 16 2209913 2209913 single base substitution C T intron_variant OV-AU 16 2209913 2209913 single base substitution C T upstream_gene_variant OV-AU 16 2211826 2211826 single base substitution C A intron_variant OV-AU 16 2211826 2211826 single base substitution C A upstream_gene_variant OV-AU 16 2212586 2212586 single base substitution G C intron_variant OV-AU 16 2212586 2212586 single base substitution G C upstream_gene_variant OV-AU 16 2217355 2217355 single base substitution C T intron_variant OV-AU 16 2222160 2222160 single base substitution G T downstream_gene_variant OV-AU 16 2222160 2222160 single base substitution G T intron_variant OV-AU 16 2222160 2222160 single base substitution G T upstream_gene_variant OV-AU 16 2222684 2222684 single base substitution C T downstream_gene_variant OV-AU 16 2222684 2222684 single base substitution C T intron_variant OV-AU 16 2222684 2222684 single base substitution C T upstream_gene_variant OV-AU 16 2224708 2224708 single base substitution C T downstream_gene_variant OV-AU 16 2224708 2224708 single base substitution C T intron_variant OV-AU 16 2230536 2230536 single base substitution G A downstream_gene_variant PACA-AU 16 2201233 2201233 deletion of <=200bp A - upstream_gene_variant PACA-AU 16 2202009 2202009 single base substitution G A upstream_gene_variant PACA-AU 16 2204420 2204420 single base substitution C T upstream_gene_variant PACA-AU 16 2205212 2205212 single base substitution G T upstream_gene_variant PACA-AU 16 2205366 2205366 single base substitution G A upstream_gene_variant PACA-AU 16 2207626 2207626 single base substitution C G intron_variant PACA-AU 16 2207883 2207883 single base substitution C A intron_variant PACA-AU 16 2209862 2209862 single base substitution A T intron_variant PACA-AU 16 2209862 2209862 single base substitution A T upstream_gene_variant PACA-AU 16 2214181 2214181 single base substitution G A intron_variant PACA-AU 16 2215080 2215080 single base substitution A G intron_variant PACA-AU 16 2215144 2215144 single base substitution G T intron_variant PACA-AU 16 2220714 2220714 single base substitution G A 3_prime_UTR_variant PACA-AU 16 2220714 2220714 single base substitution G A downstream_gene_variant PACA-AU 16 2220714 2220714 single base substitution G A exon_variant PACA-AU 16 2220714 2220714 single base substitution G A missense_variant E111K 331G>A PACA-AU 16 2220714 2220714 single base substitution G A upstream_gene_variant PACA-AU 16 2220778 2220778 single base substitution G A downstream_gene_variant PACA-AU 16 2220778 2220778 single base substitution G A intron_variant PACA-AU 16 2220778 2220778 single base substitution G A upstream_gene_variant PACA-AU 16 2223058 2223058 single base substitution T G downstream_gene_variant PACA-AU 16 2223058 2223058 single base substitution T G intron_variant PACA-AU 16 2223058 2223058 single base substitution T G upstream_gene_variant PACA-AU 16 2226807 2226819 deletion of <=200bp CCCACCCTCCATC - 3_prime_UTR_variant PACA-AU 16 2226807 2226819 deletion of <=200bp CCCACCCTCCATC - downstream_gene_variant PACA-AU 16 2231328 2231328 single base substitution G T downstream_gene_variant PACA-AU 16 2233119 2233119 single base substitution C T downstream_gene_variant PACA-CA 16 2214387 2214387 single base substitution T C intron_variant PACA-CA 16 2214669 2214669 single base substitution T C intron_variant PACA-CA 16 2215142 2215142 single base substitution C G intron_variant PACA-CA 16 2215235 2215235 single base substitution T G intron_variant PACA-CA 16 2215325 2215325 single base substitution T C intron_variant PACA-CA 16 2215716 2215716 single base substitution A G intron_variant PACA-CA 16 2217752 2217752 single base substitution C A intron_variant PACA-CA 16 2219397 2219397 single base substitution C T downstream_gene_variant PACA-CA 16 2219397 2219397 single base substitution C T intron_variant PACA-CA 16 2219397 2219397 single base substitution C T upstream_gene_variant PACA-CA 16 2221340 2221340 single base substitution G A 3_prime_UTR_variant PACA-CA 16 2221340 2221340 single base substitution G A downstream_gene_variant PACA-CA 16 2221340 2221340 single base substitution G A exon_variant PACA-CA 16 2221340 2221340 single base substitution G A missense_variant V142M 424G>A PACA-CA 16 2221340 2221340 single base substitution G A upstream_gene_variant PACA-CA 16 2222224 2222224 single base substitution G A 3_prime_UTR_variant PACA-CA 16 2222224 2222224 single base substitution G A downstream_gene_variant PACA-CA 16 2222224 2222224 single base substitution G A missense_variant V170M 508G>A PACA-CA 16 2222224 2222224 single base substitution G A upstream_gene_variant PACA-CA 16 2222239 2222239 single base substitution A G 3_prime_UTR_variant PACA-CA 16 2222239 2222239 single base substitution A G downstream_gene_variant PACA-CA 16 2222239 2222239 single base substitution A G missense_variant I175V 523A>G PACA-CA 16 2222239 2222239 single base substitution A G upstream_gene_variant PACA-CA 16 2223873 2223873 deletion of <=200bp C - downstream_gene_variant PACA-CA 16 2223873 2223873 deletion of <=200bp C - intron_variant PACA-CA 16 2224927 2224927 single base substitution C T downstream_gene_variant PACA-CA 16 2224927 2224927 single base substitution C T intron_variant PACA-CA 16 2226294 2226294 single base substitution C T downstream_gene_variant PACA-CA 16 2226294 2226294 single base substitution C T missense_variant T636M 1907C>T PACA-CA 16 2228154 2228154 deletion of <=200bp G - downstream_gene_variant PACA-CA 16 2230984 2230984 single base substitution A G downstream_gene_variant PAEN-AU 16 2215080 2215080 single base substitution A G intron_variant PAEN-AU 16 2215689 2215689 single base substitution C T intron_variant PAEN-AU 16 2222633 2222633 single base substitution T G downstream_gene_variant PAEN-AU 16 2222633 2222633 single base substitution T G intron_variant PAEN-AU 16 2222633 2222633 single base substitution T G upstream_gene_variant PAEN-IT 16 2211805 2211805 single base substitution C T intron_variant PAEN-IT 16 2211805 2211805 single base substitution C T upstream_gene_variant PAEN-IT 16 2216336 2216336 single base substitution G A intron_variant PBCA-DE 16 2212831 2212831 insertion of <=200bp - CGGCTG intron_variant PBCA-DE 16 2212831 2212831 insertion of <=200bp - CGGCTG upstream_gene_variant PBCA-DE 16 2212837 2212837 single base substitution C T intron_variant PBCA-DE 16 2212837 2212837 single base substitution C T upstream_gene_variant PBCA-DE 16 2227425 2227425 deletion of <=200bp T - 3_prime_UTR_variant PBCA-DE 16 2227425 2227425 deletion of <=200bp T - downstream_gene_variant PBCA-DE 16 2229038 2229040 deletion of <=200bp GCG - downstream_gene_variant PRAD-CA 16 2214129 2214129 single base substitution G T intron_variant PRAD-CA 16 2214504 2214504 single base substitution A G intron_variant PRAD-CA 16 2215242 2215242 single base substitution A G intron_variant PRAD-CA 16 2218626 2218626 single base substitution C T downstream_gene_variant PRAD-CA 16 2218626 2218626 single base substitution C T intron_variant PRAD-CA 16 2218626 2218626 single base substitution C T upstream_gene_variant PRAD-UK 16 2207292 2207292 single base substitution T G intron_variant PRAD-UK 16 2207388 2207388 single base substitution C T intron_variant PRAD-UK 16 2210264 2210264 single base substitution A T intron_variant PRAD-UK 16 2210264 2210264 single base substitution A T upstream_gene_variant PRAD-UK 16 2210778 2210778 single base substitution C T intron_variant PRAD-UK 16 2210778 2210778 single base substitution C T upstream_gene_variant PRAD-UK 16 2213401 2213401 single base substitution G T intron_variant PRAD-UK 16 2213401 2213401 single base substitution G T upstream_gene_variant PRAD-UK 16 2223006 2223006 single base substitution T G downstream_gene_variant PRAD-UK 16 2223006 2223006 single base substitution T G intron_variant PRAD-UK 16 2223006 2223006 single base substitution T G upstream_gene_variant PRAD-US 16 2226330 2226330 single base substitution C T downstream_gene_variant PRAD-US 16 2226330 2226330 single base substitution C T missense_variant A648V 1943C>T RECA-EU 16 2204089 2204089 single base substitution G A upstream_gene_variant RECA-EU 16 2208394 2208394 single base substitution C G intron_variant RECA-EU 16 2209097 2209097 single base substitution G A intron_variant RECA-EU 16 2209097 2209097 single base substitution G A upstream_gene_variant RECA-EU 16 2215254 2215254 single base substitution C A intron_variant SKCA-BR 16 2201800 2201800 single base substitution T G upstream_gene_variant SKCA-BR 16 2202516 2202516 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 16 2204625 2204625 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 16 2206748 2206748 single base substitution T G intron_variant SKCA-BR 16 2210698 2210699 deletion of <=200bp CT - intron_variant SKCA-BR 16 2210698 2210699 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 16 2212017 2212017 single base substitution C T intron_variant SKCA-BR 16 2212017 2212017 single base substitution C T upstream_gene_variant SKCA-BR 16 2212018 2212018 single base substitution C T intron_variant SKCA-BR 16 2212018 2212018 single base substitution C T upstream_gene_variant SKCA-BR 16 2212917 2212917 single base substitution G A intron_variant SKCA-BR 16 2212917 2212917 single base substitution G A upstream_gene_variant SKCA-BR 16 2213784 2213784 single base substitution A C 5_prime_UTR_variant SKCA-BR 16 2213784 2213784 single base substitution A C intron_variant SKCA-BR 16 2214575 2214575 single base substitution A G intron_variant SKCA-BR 16 2214586 2214586 single base substitution A G intron_variant SKCA-BR 16 2214669 2214669 single base substitution T C intron_variant SKCA-BR 16 2215325 2215325 single base substitution T C intron_variant SKCA-BR 16 2215440 2215440 single base substitution T G intron_variant SKCA-BR 16 2215620 2215620 single base substitution A G intron_variant SKCA-BR 16 2215716 2215716 single base substitution A G intron_variant SKCA-BR 16 2220280 2220280 single base substitution T C downstream_gene_variant SKCA-BR 16 2220280 2220280 single base substitution T C intron_variant SKCA-BR 16 2220280 2220280 single base substitution T C upstream_gene_variant SKCA-BR 16 2221140 2221140 single base substitution C T downstream_gene_variant SKCA-BR 16 2221140 2221140 single base substitution C T intron_variant SKCA-BR 16 2221140 2221140 single base substitution C T upstream_gene_variant SKCA-BR 16 2221219 2221219 single base substitution T G downstream_gene_variant SKCA-BR 16 2221219 2221219 single base substitution T G intron_variant SKCA-BR 16 2221219 2221219 single base substitution T G upstream_gene_variant SKCA-BR 16 2221221 2221221 single base substitution A G downstream_gene_variant SKCA-BR 16 2221221 2221221 single base substitution A G intron_variant SKCA-BR 16 2221221 2221221 single base substitution A G upstream_gene_variant SKCA-BR 16 2223584 2223584 single base substitution T G downstream_gene_variant SKCA-BR 16 2223584 2223584 single base substitution T G intron_variant SKCA-BR 16 2223661 2223661 single base substitution T G downstream_gene_variant SKCA-BR 16 2223661 2223661 single base substitution T G intron_variant SKCA-BR 16 2223868 2223868 single base substitution A C downstream_gene_variant SKCA-BR 16 2223868 2223868 single base substitution A C intron_variant SKCA-BR 16 2231151 2231151 single base substitution T C downstream_gene_variant SKCA-BR 16 2231160 2231160 single base substitution T G downstream_gene_variant SKCA-BR 16 2232937 2232937 single base substitution A C downstream_gene_variant SKCM-US 16 2218111 2218111 single base substitution G A 3_prime_UTR_variant SKCM-US 16 2218111 2218111 single base substitution G A exon_variant SKCM-US 16 2218111 2218111 single base substitution G A missense_variant R58K 173G>A SKCM-US 16 2222201 2222201 single base substitution C T 3_prime_UTR_variant SKCM-US 16 2222201 2222201 single base substitution C T downstream_gene_variant SKCM-US 16 2222201 2222201 single base substitution C T missense_variant P162L 485C>T SKCM-US 16 2222201 2222201 single base substitution C T upstream_gene_variant SKCM-US 16 2222336 2222336 single base substitution C T 3_prime_UTR_variant SKCM-US 16 2222336 2222336 single base substitution C T downstream_gene_variant SKCM-US 16 2222336 2222336 single base substitution C T missense_variant P207L 620C>T SKCM-US 16 2222336 2222336 single base substitution C T upstream_gene_variant SKCM-US 16 2223226 2223226 single base substitution G C downstream_gene_variant SKCM-US 16 2223226 2223226 single base substitution G C missense_variant E280Q 838G>C SKCM-US 16 2223226 2223226 single base substitution G C upstream_gene_variant SKCM-US 16 2223270 2223270 single base substitution G A downstream_gene_variant SKCM-US 16 2223270 2223270 single base substitution G A synonymous_variant T294T 882G>A SKCM-US 16 2223270 2223270 single base substitution G A upstream_gene_variant SKCM-US 16 2223538 2223538 single base substitution G T downstream_gene_variant SKCM-US 16 2223538 2223538 single base substitution G T exon_variant SKCM-US 16 2223538 2223538 single base substitution G T missense_variant D357Y 1069G>T SKCM-US 16 2225900 2225900 single base substitution C T downstream_gene_variant SKCM-US 16 2225900 2225900 single base substitution C T synonymous_variant S564S 1692C>T SKCM-US 16 2226162 2226162 single base substitution C T downstream_gene_variant SKCM-US 16 2226162 2226162 single base substitution C T missense_variant S620F 1859C>T SKCM-US 16 2228577 2228577 single base substitution C G downstream_gene_variant SKCM-US 16 2229903 2229903 single base substitution C T downstream_gene_variant SKCM-US 16 2230299 2230299 single base substitution G A downstream_gene_variant SKCM-US 16 2230323 2230323 single base substitution C T downstream_gene_variant SKCM-US 16 2230998 2230998 single base substitution G A downstream_gene_variant SKCM-US 16 2231002 2231002 single base substitution C T downstream_gene_variant SKCM-US 16 2231004 2231004 single base substitution G A downstream_gene_variant SKCM-US 16 2231248 2231248 single base substitution C T downstream_gene_variant STAD-US 16 2201750 2201750 single base substitution C T upstream_gene_variant STAD-US 16 2203418 2203418 single base substitution C A upstream_gene_variant STAD-US 16 2215906 2215906 single base substitution C T exon_variant STAD-US 16 2215906 2215906 single base substitution C T synonymous_variant P36P 108C>T STAD-US 16 2218083 2218083 single base substitution G A 3_prime_UTR_variant STAD-US 16 2218083 2218083 single base substitution G A exon_variant STAD-US 16 2218083 2218083 single base substitution G A missense_variant G49R 145G>A STAD-US 16 2222242 2222242 single base substitution G A 3_prime_UTR_variant STAD-US 16 2222242 2222242 single base substitution G A downstream_gene_variant STAD-US 16 2222242 2222242 single base substitution G A missense_variant A176T 526G>A STAD-US 16 2222242 2222242 single base substitution G A upstream_gene_variant STAD-US 16 2222327 2222327 single base substitution A C 3_prime_UTR_variant STAD-US 16 2222327 2222327 single base substitution A C downstream_gene_variant STAD-US 16 2222327 2222327 single base substitution A C missense_variant E204A 611A>C STAD-US 16 2222327 2222327 single base substitution A C upstream_gene_variant STAD-US 16 2222338 2222338 single base substitution C T 3_prime_UTR_variant STAD-US 16 2222338 2222338 single base substitution C T downstream_gene_variant STAD-US 16 2222338 2222338 single base substitution C T stop_gained R208* 622C>T STAD-US 16 2222338 2222338 single base substitution C T upstream_gene_variant STAD-US 16 2223541 2223541 single base substitution G A downstream_gene_variant STAD-US 16 2223541 2223541 single base substitution G A exon_variant STAD-US 16 2223541 2223541 single base substitution G A missense_variant A358T 1072G>A STAD-US 16 2223817 2223817 single base substitution T C downstream_gene_variant STAD-US 16 2223817 2223817 single base substitution T C exon_variant STAD-US 16 2223817 2223817 single base substitution T C missense_variant L372P 1115T>C STAD-US 16 2223954 2223954 single base substitution G A downstream_gene_variant STAD-US 16 2223954 2223954 single base substitution G A exon_variant STAD-US 16 2223954 2223954 single base substitution G A missense_variant G390R 1168G>A STAD-US 16 2223996 2223996 single base substitution G A downstream_gene_variant STAD-US 16 2223996 2223996 single base substitution G A exon_variant STAD-US 16 2223996 2223996 single base substitution G A missense_variant V404I 1210G>A STAD-US 16 2225603 2225603 single base substitution G A downstream_gene_variant STAD-US 16 2225603 2225603 single base substitution G A missense_variant G536S 1606G>A STAD-US 16 2225924 2225927 deletion of <=200bp TGTC - downstream_gene_variant STAD-US 16 2225924 2225927 deletion of <=200bp TGTC - frameshift_variant IV572 STAD-US 16 2226124 2226124 single base substitution C T downstream_gene_variant STAD-US 16 2226124 2226124 single base substitution C T synonymous_variant V607V 1821C>T STAD-US 16 2226308 2226308 single base substitution C T downstream_gene_variant STAD-US 16 2226308 2226308 single base substitution C T missense_variant R641C 1921C>T STAD-US 16 2226331 2226331 single base substitution G A downstream_gene_variant STAD-US 16 2226331 2226331 single base substitution G A synonymous_variant A648A 1944G>A STAD-US 16 2228903 2228903 single base substitution C T downstream_gene_variant STAD-US 16 2229782 2229782 deletion of <=200bp G - downstream_gene_variant STAD-US 16 2229836 2229836 single base substitution C T downstream_gene_variant STAD-US 16 2230431 2230431 single base substitution G A downstream_gene_variant STAD-US 16 2230946 2230946 deletion of <=200bp G - downstream_gene_variant STAD-US 16 2231521 2231521 insertion of <=200bp - C downstream_gene_variant STAD-US 16 2231826 2231826 single base substitution C T downstream_gene_variant UCEC-US 16 2221293 2221293 single base substitution C T 3_prime_UTR_variant UCEC-US 16 2221293 2221293 single base substitution C T downstream_gene_variant UCEC-US 16 2221293 2221293 single base substitution C T exon_variant UCEC-US 16 2221293 2221293 single base substitution C T missense_variant S126L 377C>T UCEC-US 16 2221293 2221293 single base substitution C T upstream_gene_variant UCEC-US 16 2221578 2221578 single base substitution G A 3_prime_UTR_variant UCEC-US 16 2221578 2221578 single base substitution G A downstream_gene_variant UCEC-US 16 2221578 2221578 single base substitution G A synonymous_variant T149T 447G>A UCEC-US 16 2221578 2221578 single base substitution G A upstream_gene_variant UCEC-US 16 2222300 2222300 single base substitution C T 3_prime_UTR_variant UCEC-US 16 2222300 2222300 single base substitution C T downstream_gene_variant UCEC-US 16 2222300 2222300 single base substitution C T missense_variant A195V 584C>T UCEC-US 16 2222300 2222300 single base substitution C T upstream_gene_variant UCEC-US 16 2223261 2223261 single base substitution G A downstream_gene_variant UCEC-US 16 2223261 2223261 single base substitution G A synonymous_variant L291L 873G>A UCEC-US 16 2223261 2223261 single base substitution G A upstream_gene_variant UCEC-US 16 2225514 2225514 single base substitution T C downstream_gene_variant UCEC-US 16 2225514 2225514 single base substitution T C missense_variant V506A 1517T>C UCEC-US 16 2225848 2225848 single base substitution G A downstream_gene_variant UCEC-US 16 2225848 2225848 single base substitution G A missense_variant R547Q 1640G>A UCEC-US 16 2226167 2226167 single base substitution G A downstream_gene_variant UCEC-US 16 2226167 2226167 single base substitution G A missense_variant D622N 1864G>A UCEC-US 16 2231893 2231893 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand MAVER-1 COSM1740275 c.23G>A p.R8H Substitution - Missense 16:2163943-2163943 + TCGA-RA-A741-01 COSM326749 c.1370C>T p.A457V Substitution - Missense 16:2175134-2175134 + MN-304 COSM1578113 c.1958G>A p.R653Q Substitution - Missense 16:2176344-2176344 + MN-3212 COSM1666963 c.? p.G390R Substitution - Missense PCSI_0090_Pa_X COSM3377829 c.424G>A p.V142M Substitution - Missense 16:2171339-2171339 + MN-201 COSM1666972 c.1737_1739delCCT p.L580del Deletion - In frame 16:2175944-2175946 + MN-265 COSM1667015 c.? p.G560D Substitution - Missense 587316 COSM1230216 c.1111C>T p.R371W Substitution - Missense 16:2173812-2173812 + CHC451T COSM4957223 c.165G>C p.Q55H Substitution - Missense 16:2168102-2168102 + 56484 COSM1578115 c.1843A>G p.K615E Substitution - Missense 16:2176145-2176145 + CHC796T COSM4954178 c.1068G>T p.R356R Substitution - coding silent 16:2173536-2173536 + MN-4691 COSM1667007 c.? p.Y621D Substitution - Missense MN-4747 COSM1667016 c.? p.K389E Substitution - Missense TCGA-CD-5801-01 COSM4059254 c.611A>C p.E204A Substitution - Missense 16:2172326-2172326 + PD12803a COSM3770092 c.112T>A p.F38I Substitution - Missense 16:2165909-2165909 + YUKAT COSM5384504 c.618C>T p.D206D Substitution - coding silent 16:2172333-2172333 + 56508 COSM1578118 c.1606G>A p.G536S Substitution - Missense 16:2175602-2175602 + MN-105 COSM1578635 c.1921C>T p.R641C Substitution - Missense 16:2176307-2176307 + 2167 COSM5016748 c.1822_1830delATCTCGACG p.I608_T610delIST Deletion - In frame 16:2176124-2176132 + TCGA-A7-A0DA-01 COSM434895 c.1897_1898delAT p.M633fs*30 Deletion - Frameshift 16:2176283-2176284 + A5 COSM5350323 c.308T>C p.L103P Substitution - Missense 16:2170690-2170690 + MN-13 COSM1666998 c.? p.H642P Substitution - Missense TCGA-66-2785-01 COSM702303 c.1116G>A p.L372L Substitution - coding silent 16:2173817-2173817 + U87 COSM3278518 c.1515C>A p.I505I Substitution - coding silent 16:2175511-2175511 + 585260 COSM326749 c.1370C>T p.A457V Substitution - Missense 16:2175134-2175134 + CHC1028T COSM4790927 c.883G>A p.D295N Substitution - Missense 16:2173270-2173270 + MN-108 COSM1666965 c.? p.N520S Substitution - Missense MN-42100 COSM1667021 c.1135+G>A p.? Unknown 16:2173837-2173837 + I2L-P16-Tumor-Organoid COSM5363309 c.1777C>T p.R593W Substitution - Missense 16:2176079-2176079 + DLD1 COSM1678766 c.1732G>A p.E578K Substitution - Missense 16:2175939-2175939 + TARGET-30-PARZMY COSM1288609 c.964C>A p.L322I Substitution - Missense 16:2173351-2173351 + LAPC-4 COSM238549 c.82-1_82insG p.T28fs*21 Unknown 16:2165878-2165879 + 56506 COSM1582889 c.1729T>G p.Y577D Substitution - Missense 16:2175936-2175936 + MN-42019 COSM1666973 c.1135+2T>C p.? Unknown 16:2173838-2173838 + LIM2405 COSM4642000 c.778C>A p.P260T Substitution - Missense 16:2172583-2172583 + LN18 COSM3278476 c.268A>T p.I90F Substitution - Missense 16:2170650-2170650 + TCGA-BR-8487-01 COSM4059255 c.622C>T p.R208* Substitution - Nonsense 16:2172337-2172337 + CSCC-31-T COSM4447363 c.1879-3C>T p.? Unknown 16:2176262-2176262 + 930 COSM1578115 c.1843A>G p.K615E Substitution - Missense 16:2176145-2176145 + PCSI_0046_Pa_P_526 COSM216365 c.508G>A p.V170M Substitution - Missense 16:2172223-2172223 + HCT15 COSM1678766 c.1732G>A p.E578K Substitution - Missense 16:2175939-2175939 + Au1 COSM5597741 c.72C>T p.V24V Substitution - coding silent 16:2163992-2163992 + 900T COSM673838 c.1922G>A p.R641H Substitution - Missense 16:2176308-2176308 + TCGA-BR-8080-01 COSM4059260 c.1210G>A p.V404I Substitution - Missense 16:2173995-2173995 + MN-305 COSM1578118 c.1606G>A p.G536S Substitution - Missense 16:2175602-2175602 + MN-86 COSM1666965 c.? p.N520S Substitution - Missense MN-4962 COSM1666965 c.? p.N520S Substitution - Missense 834 COSM1578119 c.1559A>G p.N520S Substitution - Missense 16:2175555-2175555 + MN-1200 COSM1666969 c.? p.P398T Substitution - Missense LC_C27 COSM1189140 c.1534T>A p.L512M Substitution - Missense 16:2175530-2175530 + LUAD-S01315 COSM344414 c.1627A>C p.I543L Substitution - Missense 16:2175834-2175834 + MN-3302 COSM1667001 c.? p.C388W Substitution - Missense 2310 COSM1578117 c.1682G>A p.S561N Substitution - Missense 16:2175889-2175889 + MN-4644 COSM1667008 c.? p.P398R Substitution - Missense 8044570 COSM3387290 c.331G>A p.E111K Substitution - Missense 16:2170713-2170713 + TCGA-DK-A1AC-01 COSM1301734 c.102C>T p.F34F Substitution - coding silent 16:2165899-2165899 + MN-84 COSM1666970 c.? p.R653P Substitution - Missense MN-163 COSM1666966 c.? p.V665A Substitution - Missense MN-1187 COSM1666968 c.? p.K615E Substitution - Missense MN-249 COSM1578635 c.1921C>T p.R641C Substitution - Missense 16:2176307-2176307 + 58282 COSM1578124 c.1136-1G>T p.? Unknown 16:2173837-2173837 + TCGA-D1-A167-01 COSM968556 c.584C>T p.A195V Substitution - Missense 16:2172299-2172299 + 56490 COSM1578115 c.1843A>G p.K615E Substitution - Missense 16:2176145-2176145 + TCGA-ER-A194-01 COSM3507629 c.1859C>T p.S620F Substitution - Missense 16:2176161-2176161 + TCGA-ER-A193-06 COSM3507619 c.838G>C p.E280Q Substitution - Missense 16:2173225-2173225 + cSCCP1 COSM135688 c.263C>T p.S88F Substitution - Missense 16:2170645-2170645 + MN-292 COSM1578717 c.1911G>C p.Q637H Substitution - Missense 16:2176297-2176297 + TCGA-HU-A4GN-01 COSM4059252 c.145G>A p.G49R Substitution - Missense 16:2168082-2168082 + MN-72 COSM1578717 c.1911G>C p.Q637H Substitution - Missense 16:2176297-2176297 + MN-26 COSM1578583 c.1163G>A p.C388Y Substitution - Missense 16:2173948-2173948 + PD10014a COSM5769809 c.1387-8C>G p.? Unknown 16:2175293-2175293 + TCGA-BP-4983-01 COSM471488 c.1571G>A p.R524Q Substitution - Missense 16:2175567-2175567 + TCGA-E9-A1NI-01 COSM5833040 c.808delG p.N271fs*17 Deletion - Frameshift 16:2173195-2173195 + MN-69 COSM1666971 c.? p.T391I Substitution - Missense I2L-P19Ta-Tumor-Biopsy COSM5363328 c.1327C>T p.L443L Substitution - coding silent 16:2174314-2174314 + B78-Tumor COSM3932286 c.1941C>T p.T647T Substitution - coding silent 16:2176327-2176327 + TCGA-CC-5259-01 COSM4928228 c.1688A>T p.Y563F Substitution - Missense 16:2175895-2175895 + 56520 COSM1578119 c.1559A>G p.N520S Substitution - Missense 16:2175555-2175555 + TCGA-ER-A19P-06 COSM3507618 c.620C>T p.P207L Substitution - Missense 16:2172335-2172335 + MN-3075 COSM1666968 c.? p.K615E Substitution - Missense 56476 COSM1578119 c.1559A>G p.N520S Substitution - Missense 16:2175555-2175555 + TCGA-AA-3681-01 COSM293097 c.1558A>T p.N520Y Substitution - Missense 16:2175554-2175554 + MN-3219 COSM1578118 c.1606G>A p.G536S Substitution - Missense 16:2175602-2175602 + sysucc-1397T COSM3278393 c.120C>T p.A40A Substitution - coding silent 16:2165917-2165917 + CHC1028T COSM4790927 c.883G>A p.D295N Substitution - Missense 16:2173270-2173270 + RKO COSM3278519 c.1536_1538delGAA p.K514delK Deletion - In frame 16:2175532-2175534 + TCGA-AA-3833-01 COSM295108 c.39_40insG p.P16fs*33 Insertion - Frameshift 16:2163959-2163960 + 56570 COSM673838 c.1922G>A p.R641H Substitution - Missense 16:2176308-2176308 + RKO COSM4059262 c.1944G>A p.A648A Substitution - coding silent 16:2176330-2176330 + sysucc-311T COSM5479058 c.937G>A p.A313T Substitution - Missense 16:2173324-2173324 + 112190 COSM95393 c.550C>A p.L184I Substitution - Missense 16:2172265-2172265 + TCGA-BR-4362-01 COSM1578122 c.1168G>A p.G390R Substitution - Missense 16:2173953-2173953 + sysucc-1317T COSM1578113 c.1958G>A p.R653Q Substitution - Missense 16:2176344-2176344 + DN11135 COSM5960589 c.993G>A p.K331K Substitution - coding silent 16:2173380-2173380 + TCGA-D8-A1JI-01 COSM1478638 c.1386+2T>C p.? Unknown 16:2175152-2175152 + T3498 COSM4735721 c.1408C>T p.Q470* Substitution - Nonsense 16:2175322-2175322 + MN-3481 COSM1667007 c.? p.Y621D Substitution - Missense TCGA-B5-A11E-01 COSM968555 c.447G>A p.T149T Substitution - coding silent 16:2171577-2171577 + TCGA-CG-4465-01 COSM1578118 c.1606G>A p.G536S Substitution - Missense 16:2175602-2175602 + TCGA-FP-A4BE-01 COSM1578635 c.1921C>T p.R641C Substitution - Missense 16:2176307-2176307 + YUMILAN COSM5384505 c.907G>T p.V303L Substitution - Missense 16:2173294-2173294 + TCGA-B8-4621-01 COSM471487 c.305C>G p.S102C Substitution - Missense 16:2170687-2170687 + CHC451T COSM4957337 c.166C>A p.H56N Substitution - Missense 16:2168103-2168103 + 23398 COSM1578115 c.1843A>G p.K615E Substitution - Missense 16:2176145-2176145 + MN-23 COSM1666963 c.? p.G390R Substitution - Missense BD98T COSM5520739 c.1133G>A p.G378D Substitution - Missense 16:2173834-2173834 + MN-49 COSM1667017 c.? p.Y603C Substitution - Missense MN-1037 COSM1666965 c.? p.N520S Substitution - Missense MN-206 COSM1666997 c.? p.G390E Substitution - Missense WA57 COSM242028 c.1670C>T p.T557M Substitution - Missense 16:2175877-2175877 + 56578 COSM1578119 c.1559A>G p.N520S Substitution - Missense 16:2175555-2175555 + TCGA-EJ-7782-01 COSM3782938 c.1943C>T p.A648V Substitution - Missense 16:2176329-2176329 + MN-1053 COSM1578528 c.1059_1060ins18 p.S359_M360insFRRDAS Insertion - In frame 16:2173527-2173528 + MN-14 COSM1578635 c.1921C>T p.R641C Substitution - Missense 16:2176307-2176307 + PD7069a COSM5788836 c.1158C>G p.F386L Substitution - Missense 16:2173943-2173943 + MN-16 COSM1666967 c.? p.T145M Substitution - Missense 56496 COSM1582881 c.1861T>A p.Y621N Substitution - Missense 16:2176163-2176163 + 660 COSM1578123 c.1169G>A p.G390E Substitution - Missense 16:2173954-2173954 + MN-41133 COSM1667004 c.? p.P398A Substitution - Missense MN-3189 COSM1667006 c.? p.R653Q Substitution - Missense PCSI_0504_Pa_P_526 COSM4806628 c.523A>G p.I175V Substitution - Missense 16:2172238-2172238 + MN-41208 COSM1666965 c.? p.N520S Substitution - Missense CHC451T COSM4957223 c.165G>C p.Q55H Substitution - Missense 16:2168102-2168102 + CHC796T COSM4954178 c.1068G>T p.R356R Substitution - coding silent 16:2173536-2173536 + CSCC-56-T COSM4499500 c.543C>T p.I181I Substitution - coding silent 16:2172258-2172258 + MN-4546 COSM1667013 c.? p.Y563C Substitution - Missense MN-126 COSM1578583 c.1163G>A p.C388Y Substitution - Missense 16:2173948-2173948 + sysucc-1150T COSM5452452 c.659+4A>C p.? Unknown 16:2172378-2172378 + TCGA-FW-A3R5-06 COSM3888194 c.485C>T p.P162L Substitution - Missense 16:2172200-2172200 + CSCC-46-T COSM4469214 c.1588C>T p.Q530* Substitution - Nonsense 16:2175584-2175584 + 2532141 COSM5885229 c.1922G>C p.R641P Substitution - Missense 16:2176308-2176308 + MN-303 COSM1578117 c.1682G>A p.S561N Substitution - Missense 16:2175889-2175889 + HCT15 COSM3278491 c.852C>T p.F284F Substitution - coding silent 16:2173239-2173239 + MN-41219 COSM1666965 c.? p.N520S Substitution - Missense 99815 COSM95394 c.943C>G p.L315V Substitution - Missense 16:2173330-2173330 + PCSI0046 COSM216365 c.508G>A p.V170M Substitution - Missense 16:2172223-2172223 + 58280 COSM1578121 c.1192C>T p.P398S Substitution - Missense 16:2173977-2173977 + 58278 COSM1578119 c.1559A>G p.N520S Substitution - Missense 16:2175555-2175555 + HCT8 COSM1678766 c.1732G>A p.E578K Substitution - Missense 16:2175939-2175939 + MN-4912 COSM1666965 c.? p.N520S Substitution - Missense TCGA-CM-6680-01 COSM3690843 c.1818G>A p.A606A Substitution - coding silent 16:2176120-2176120 + MN-41151 COSM1666968 c.? p.K615E Substitution - Missense HCT-15 COSM1678766 c.1732G>A p.E578K Substitution - Missense 16:2175939-2175939 + CSCC-41-T COSM4476457 c.206C>T p.S69F Substitution - Missense 16:2168143-2168143 + MN-3284 COSM1667009 c.? p.C388R Substitution - Missense 56492 COSM1582874 c.1561C>A p.H521N Substitution - Missense 16:2175557-2175557 + TCGA-C5-A7CJ-01 COSM4821438 c.853G>A p.E285K Substitution - Missense 16:2173240-2173240 + 2688 COSM1578113 c.1958G>A p.R653Q Substitution - Missense 16:2176344-2176344 + PCSI_0090_Pa_P COSM3377829 c.424G>A p.V142M Substitution - Missense 16:2171339-2171339 + TCGA-D5-6928-01 COSM1376628 c.1015G>A p.V339I Substitution - Missense 16:2173483-2173483 + CHC1052T COSM3278489 c.825C>T p.Y275Y Substitution - coding silent 16:2173212-2173212 + 1_RESISTANT COSM1720753 c.1764C>T p.S588S Substitution - coding silent 16:2176066-2176066 + MPCC_0032_Pa_C COSM216365 c.508G>A p.V170M Substitution - Missense 16:2172223-2172223 + CHC451T COSM4957337 c.166C>A p.H56N Substitution - Missense 16:2168103-2168103 + 56494 COSM1578120 c.1492A>G p.K498E Substitution - Missense 16:2175406-2175406 + MN-1066 COSM1578119 c.1559A>G p.N520S Substitution - Missense 16:2175555-2175555 + MN-39 COSM1666964 c.? p.H642Q Substitution - Missense MN-3042 COSM1667015 c.? p.G560D Substitution - Missense TCGA-CD-8531-01 COSM4059256 c.1072G>A p.A358T Substitution - Missense 16:2173540-2173540 + 587278 COSM1230217 c.1043G>A p.S348N Substitution - Missense 16:2173511-2173511 + MN-1197 COSM1578118 c.1606G>A p.G536S Substitution - Missense 16:2175602-2175602 + CHC1052T COSM3278489 c.825C>T p.Y275Y Substitution - coding silent 16:2173212-2173212 + 2072 COSM1578116 c.1688A>G p.Y563C Substitution - Missense 16:2175895-2175895 + TCGA-EE-A3AA-06 COSM3507629 c.1859C>T p.S620F Substitution - Missense 16:2176161-2176161 + PD4975a COSM5768636 c.1164C>T p.C388C Substitution - coding silent 16:2173949-2173949 + MN-4908 COSM1667019 c.1155_1160delCTTCAA p.I385_K387>M Complex - deletion inframe 16:2173940-2173945 + TCGA-BR-4361-01 COSM4059253 c.526G>A p.A176T Substitution - Missense 16:2172241-2172241 + Au4 COSM5605171 c.103G>A p.G35R Substitution - Missense 16:2165900-2165900 + MN-1209 COSM1667011 c.? p.G397R Substitution - Missense 526LT COSM4382581 c.907G>A p.V303M Substitution - Missense 16:2173294-2173294 + T3090 COSM3278350 c.40delG p.S17fs*111 Deletion - Frameshift 16:2163960-2163960 + 1_PRE-TREATMENT COSM1720753 c.1764C>T p.S588S Substitution - coding silent 16:2176066-2176066 + TCGA-BH-A0AV-01 COSM434892 c.746C>A p.A249D Substitution - Missense 16:2172551-2172551 + ESO-1488 COSM1268461 c.331_333delGAG p.E115delE Deletion - In frame 16:2170713-2170715 + MN-41018 COSM1578118 c.1606G>A p.G536S Substitution - Missense 16:2175602-2175602 + T263 COSM4059256 c.1072G>A p.A358T Substitution - Missense 16:2173540-2173540 + MN-4669 COSM1666965 c.? p.N520S Substitution - Missense STC246 COSM5054741 c.1140C>T p.Y380Y Substitution - coding silent 16:2173925-2173925 + 56516 COSM1582924 c.1558A>C p.N520H Substitution - Missense 16:2175554-2175554 + 56510 COSM1578119 c.1559A>G p.N520S Substitution - Missense 16:2175555-2175555 + I2L-P19Ta-Tumor-Organoid COSM5363328 c.1327C>T p.L443L Substitution - coding silent 16:2174314-2174314 + TCGA-13-2060-01 COSM73057 c.1181G>A p.G394D Substitution - Missense 16:2173966-2173966 + TCGA-EE-A3AG-06 COSM3507628 c.1692C>T p.S564S Substitution - coding silent 16:2175899-2175899 + T1154 COSM4735720 c.112delT p.S39fs*89 Deletion - Frameshift 16:2165909-2165909 + MN-83 COSM1666968 c.? p.K615E Substitution - Missense 1N53-VS-1T53 COSM4976889 c.1617G>A p.Q539Q Substitution - coding silent 16:2175613-2175613 + MN-57 COSM1667020 c.1101_1103delCAT p.I368del Deletion - In frame 16:2173802-2173804 + TCGA-CG-5733-01 COSM4059245 c.108C>T p.P36P Substitution - coding silent 16:2165905-2165905 + TCGA-EB-A44O-01 COSM3507617 c.173G>A p.R58K Substitution - Missense 16:2168110-2168110 + TTC466 COSM4578812 c.1482C>T p.S494S Substitution - coding silent 16:2175396-2175396 + BD124T COSM673838 c.1922G>A p.R641H Substitution - Missense 16:2176308-2176308 + PA285 COSM1163111 c.1431C>T p.A477A Substitution - coding silent 16:2175345-2175345 + TCGA-BH-A0HA-01 COSM434891 c.347C>T p.P116L Substitution - Missense 16:2170729-2170729 + ESO-0292 COSM1241848 c.495C>T p.N165N Substitution - coding silent 16:2172210-2172210 + 2332 COSM1578122 c.1168G>A p.G390R Substitution - Missense 16:2173953-2173953 + 6768 COSM1578124 c.1136-1G>T p.? Unknown 16:2173837-2173837 + MN-1025 COSM1578118 c.1606G>A p.G536S Substitution - Missense 16:2175602-2175602 + TCGA-HT-7677-01 COSM3969452 c.1040T>C p.L347P Substitution - Missense 16:2173508-2173508 + TCGA-B5-A11Z-01 COSM968554 c.377C>T p.S126L Substitution - Missense 16:2171292-2171292 + MN-4975 COSM1667006 c.? p.R653Q Substitution - Missense 2482 COSM1578113 c.1958G>A p.R653Q Substitution - Missense 16:2176344-2176344 + TCGA-CD-A4MJ-01 COSM4059259 c.1115T>C p.L372P Substitution - Missense 16:2173816-2173816 + DLD1 COSM3278491 c.852C>T p.F284F Substitution - coding silent 16:2173239-2173239 + TCGA-B5-A11E-01 COSM968557 c.873G>A p.L291L Substitution - coding silent 16:2173260-2173260 + TCGA-F1-A448-01 COSM4059262 c.1944G>A p.A648A Substitution - coding silent 16:2176330-2176330 + TCGA-AP-A059-01 COSM968564 c.1517T>C p.V506A Substitution - Missense 16:2175513-2175513 + T3225 COSM4735723 c.1829C>T p.T610M Substitution - Missense 16:2176131-2176131 + 56518 COSM1578119 c.1559A>G p.N520S Substitution - Missense 16:2175555-2175555 + MN-3210 COSM1667005 c.? p.R641H Substitution - Missense HCT8 COSM3278491 c.852C>T p.F284F Substitution - coding silent 16:2173239-2173239 + MN-42100 COSM1685238 c.1135+1G>A p.? Unknown 16:2173837-2173837 + TCGA-A6-5657-01 COSM1376639 c.1599G>T p.L533L Substitution - coding silent 16:2175595-2175595 + pfg008T COSM3278350 c.40delG p.S17fs*111 Deletion - Frameshift 16:2163960-2163960 + MN-142 COSM1667000 c.? p.Y621C Substitution - Missense 56522 COSM1582949 c.1150C>G p.Q384E Substitution - Missense 16:2173935-2173935 + TCGA-JX-A3Q0-01 COSM4824305 c.1539G>C p.K513N Substitution - Missense 16:2175535-2175535 + HCC063T COSM5812687 c.30C>T p.N10N Substitution - coding silent 16:2163950-2163950 + MN-3085 COSM1578118 c.1606G>A p.G536S Substitution - Missense 16:2175602-2175602 + MN-125 COSM1667010 c.? p.G378D Substitution - Missense ZZUFHECRKL-G026T COSM5435646 c.461G>A p.C154Y Substitution - Missense 16:2171591-2171591 + sysucc-1150T COSM5452451 c.659+3A>G p.? Unknown 16:2172377-2172377 + TCGA-D8-A1XQ-01 COSM3817522 c.946C>T p.R316C Substitution - Missense 16:2173333-2173333 + MN-1144 COSM1578936 c.1010T>C p.F337S Substitution - Missense 16:2173397-2173397 + I2L-P16-Tumor-Biopsy COSM5363309 c.1777C>T p.R593W Substitution - Missense 16:2176079-2176079 + PCSI_0046_Pa_P COSM216365 c.508G>A p.V170M Substitution - Missense 16:2172223-2172223 + MN-191 COSM1666968 c.? p.K615E Substitution - Missense TCGA-EE-A3J5-06 COSM3507620 c.882G>A p.T294T Substitution - coding silent 16:2173269-2173269 + ASHPC_0031_Pa_P COSM4962901 c.1907C>T p.T636M Substitution - Missense 16:2176293-2176293 + MN-73 COSM1666963 c.? p.G390R Substitution - Missense MN-1210 COSM1667014 c.? p.Y603D Substitution - Missense MN-1076 COSM1666973 c.1135+2T>C p.? Unknown 16:2173838-2173838 + 56486 COSM1578119 c.1559A>G p.N520S Substitution - Missense 16:2175555-2175555 + MD-050 COSM303441 c.126C>T p.T42T Substitution - coding silent 16:2165923-2165923 + 56512 COSM1582903 c.1676G>T p.G559V Substitution - Missense 16:2175883-2175883 + MN-237 COSM1667002 c.? p.C388Y Substitution - Missense TCGA-BS-A0UF-01 COSM968578 c.1864G>A p.D622N Substitution - Missense 16:2176166-2176166 + BD57T COSM5510770 c.1425C>A p.I475I Substitution - coding silent 16:2175339-2175339 + BoPT06 COSM5731101 c.1071C>G p.D357E Substitution - Missense 16:2173539-2173539 + MN-4431 COSM1578118 c.1606G>A p.G536S Substitution - Missense 16:2175602-2175602 + MN-4764 COSM1667018 c.? p.T391N Substitution - Missense T3498 COSM4735722 c.1625A>C p.K542T Substitution - Missense 16:2175621-2175621 + TCGA-CG-5730-01 COSM4059261 c.1821C>T p.V607V Substitution - coding silent 16:2176123-2176123 + 56580 COSM1583003 c.1559A>C p.N520T Substitution - Missense 16:2175555-2175555 + 56502 COSM1578114 c.1922G>T p.R641L Substitution - Missense 16:2176308-2176308 + 61 COSM5740522 c.1918C>A p.L640M Substitution - Missense 16:2176304-2176304 + MN-18 COSM1578635 c.1921C>T p.R641C Substitution - Missense 16:2176307-2176307 + 982 COSM1578113 c.1958G>A p.R653Q Substitution - Missense 16:2176344-2176344 + D3 COSM5006763 c.65C>T p.P22L Substitution - Missense 16:2163985-2163985 + TCGA-AZ-4615-01 COSM178326 c.264C>T p.S88S Substitution - coding silent 16:2170646-2170646 + TCGA-CK-5913-01 COSM1376619 c.487G>A p.V163M Substitution - Missense 16:2172202-2172202 + TCGA-EE-A2MC-06 COSM3507621 c.1069G>T p.D357Y Substitution - Missense 16:2173537-2173537 + 56514 COSM1582913 c.1172C>T p.T391I Substitution - Missense 16:2173957-2173957 + MN-4808 COSM1667003 c.? p.E578K Substitution - Missense MN-4685 COSM1666965 c.? p.N520S Substitution - Missense SJRHB012 COSM4776394 c.950_956delCCATGCT p.S317fs*11 Deletion - Frameshift 16:2173337-2173343 + TCGA-AP-A0LM-01 COSM968575 c.1640G>A p.R547Q Substitution - Missense 16:2175847-2175847 + CRC-02T COSM4059256 c.1072G>A p.A358T Substitution - Missense 16:2173540-2173540 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.713632 16p13.3 606692

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E204A c.611A>C 16 2222327 STAD AT - Frameshift p.M633Dfs*30 c.1897_1898delAT 16 2226284 BRCA A T Missense p.N520Y c.1558A>T 16 2225555 COREAD C A Missense p.A249D c.746C>A 16 2222552 BRCA C A Missense p.L322I c.964C>A 16 2223352 NB C G Missense p.S102C c.305C>G 16 2220688 RCCC C T Missense p.A457V c.1370C>T 16 2225135 SCLC C T Missense p.P201S c.601C>T 16 2222317 LUAD C T Missense p.P207L c.620C>T 16 2222336 CM C T Missense p.S126L c.377C>T 16 2221293 UCEC C T Missense p.S620F c.1859C>T 16 2226162 CM C T Synonymous p.P36P c.108C>T 16 2215906 STAD C T Synonymous p.S564S c.1692C>T 16 2225900 CM C T Synonymous p.T65T c.195C>T 16 2218133 HNSC C T Synonymous p.V607V c.1821C>T 16 2226124 STAD GAG - InFrameDeletion p.E115delE c.343_345delGAG 16 2220714 ESCA G A Missense p.G394D c.1181G>A 16 2223967 OV G A Missense p.G49E c.146G>A 16 2218084 CM G A Missense p.G536S c.1606G>A 16 2225603 STAD G A Missense p.R524Q c.1571G>A 16 2225568 RCCC G A Missense p.S345N c.1034G>A 16 2223503 STAD G A Missense p.V170M c.508G>A 16 2222224 PAAD G A Synonymous p.T294T c.882G>A 16 2223270 CM G C Missense p.E280Q c.838G>C 16 2223226 CM G C Synonymous p.V506V c.1518G>C 16 2225515 LUAD G T Missense p.D357Y c.1069G>T 16 2223538 CM G T Missense p.G14W c.40G>T 16 2213961 LUAD G T Missense p.V607F c.1819G>T 16 2226122 HNSC T C Missense p.L347P c.1040T>C 16 2223509 LGG T C SpliceDonorSNV . c.1386+2T>C 16 2225153 BRCA