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 3 105377858 105377858 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr3:105377858C>T c.2905G>A c.(2905-2907)Gaa>Aaa p.E969K BLCA 3 105377939 105377939 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 g.chr3:105377939C>G c.2824G>C c.(2824-2826)Gag>Cag p.E942Q BLCA 3 105377987 105377987 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr3:105377987C>G c.2776G>C c.(2776-2778)Gag>Cag p.E926Q BLCA 3 105377987 105377987 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr3:105377987C>T c.2776G>A c.(2776-2778)Gag>Aag p.E926K BLCA 3 105378062 105378062 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 g.chr3:105378062C>T c.2701G>A c.(2701-2703)Gca>Aca p.A901T BLCA 3 105400433 105400433 + Missense_Mutation SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 g.chr3:105400433G>C c.2318C>G c.(2317-2319)tCt>tGt p.S773C BLCA 3 105400443 105400443 + Missense_Mutation SNP C C G TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr3:105400443C>G c.2308G>C c.(2308-2310)Gat>Cat p.D770H BLCA 3 105404267 105404267 + Missense_Mutation SNP C C T TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr3:105404267C>T c.2098G>A c.(2098-2100)Gac>Aac p.D700N BLCA 3 105421029 105421029 + Nonsense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr3:105421029G>C c.1868C>G c.(1867-1869)tCa>tGa p.S623* BLCA 3 105438984 105438984 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr3:105438984G>A c.1314C>T c.(1312-1314)atC>atT p.I438I BLCA 3 105459345 105459345 + Missense_Mutation SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr3:105459345C>T c.976G>A c.(976-978)Gaa>Aaa p.E326K BLCA 3 105459361 105459361 + Silent SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr3:105459361C>G c.960G>C c.(958-960)ctG>ctC p.L320L BLCA 3 105464816 105464816 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr3:105464816G>A c.790C>T c.(790-792)Ctc>Ttc p.L264F BLCA 3 105464872 105464872 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr3:105464872G>C c.734C>G c.(733-735)tCt>tGt p.S245C BLCA 3 105572451 105572451 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 g.chr3:105572451C>T c.226G>A c.(226-228)Gat>Aat p.D76N BRCA 3 105377845 105377845 + Missense_Mutation SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr3:105377845G>A c.2918C>T c.(2917-2919)cCt>cTt p.P973L BRCA 3 105397361 105397361 + Missense_Mutation SNP G G A TCGA-BH-A0C1-01B-11D-A12B-09 TCGA-BH-A0C1-10A-01D-A12B-09 g.chr3:105397361G>A c.2483C>T c.(2482-2484)gCa>gTa p.A828V BRCA 3 105397410 105397410 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 g.chr3:105397410C>G c.2434G>C c.(2434-2436)Gat>Cat p.D812H BRCA 3 105404165 105404165 + Splice_Site SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:105404165G>A c.2200C>T c.(2200-2202)Cgg>Tgg p.R734W BRCA 3 105421040 105421040 + Silent SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:105421040G>T c.1857C>A c.(1855-1857)atC>atA p.I619I BRCA 3 105421144 105421144 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 g.chr3:105421144C>T c.1753G>A c.(1753-1755)Gac>Aac p.D585N BRCA 3 105421211 105421211 + Silent SNP A A T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 g.chr3:105421211A>T c.1686T>A c.(1684-1686)ccT>ccA p.P562P BRCA 3 105421267 105421267 + Missense_Mutation SNP G G C TCGA-OL-A5RW-01A-11D-A28B-09 TCGA-OL-A5RW-10A-01D-A28E-09 g.chr3:105421267G>C c.1630C>G c.(1630-1632)Ctc>Gtc p.L544V BRCA 3 105422910 105422910 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr3:105422910T>G c.1515A>C c.(1513-1515)ccA>ccC p.P505P BRCA 3 105439088 105439088 + Missense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 g.chr3:105439088C>T c.1210G>A c.(1210-1212)Gat>Aat p.D404N BRCA 3 105452983 105452983 + Splice_Site SNP T T C TCGA-BH-A0DK-01A-21W-A071-09 TCGA-BH-A0DK-11A-13W-A100-09 g.chr3:105452983T>C c.1073A>G c.(1072-1074)gAa>gGa p.E358G BRCA 3 105459369 105459369 + Missense_Mutation SNP G G C TCGA-B6-A0IK-01A-12W-A071-09 TCGA-B6-A0IK-10A-01W-A071-09 g.chr3:105459369G>C c.952C>G c.(952-954)Caa>Gaa p.Q318E BRCA 3 105464837 105464837 + Missense_Mutation SNP G G A TCGA-AR-A251-01A-12D-A167-09 TCGA-AR-A251-10A-01D-A167-09 g.chr3:105464837G>A c.769C>T c.(769-771)Cat>Tat p.H257Y BRCA 3 105495384 105495384 + Missense_Mutation SNP C C T TCGA-A7-A0CJ-01A-21W-A019-09 TCGA-A7-A0CJ-10A-01W-A021-09 g.chr3:105495384C>T c.422G>A c.(421-423)cGa>cAa p.R141Q BRCA 3 105572448 105572448 + Missense_Mutation SNP T T C TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 g.chr3:105572448T>C c.229A>G c.(229-231)Att>Gtt p.I77V BRCA 3 105586354 105586354 + Missense_Mutation SNP A A C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:105586354A>C c.68T>G c.(67-69)tTg>tGg p.L23W BRCA 3 105586395 105586395 + Missense_Mutation SNP G G T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 g.chr3:105586395G>T c.27C>A c.(25-27)aaC>aaA p.N9K CESC 3 105377916 105377916 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr3:105377916C>T c.2847G>A c.(2845-2847)gtG>gtA p.V949V CESC 3 105397350 105397350 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr3:105397350G>A c.2494C>T c.(2494-2496)Ctc>Ttc p.L832F CESC 3 105400388 105400388 + Missense_Mutation SNP T T C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 g.chr3:105400388T>C c.2363A>G c.(2362-2364)aAt>aGt p.N788S CESC 3 105420966 105420966 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr3:105420966C>T c.1931G>A c.(1930-1932)cGc>cAc p.R644H CESC 3 105459466 105459466 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr3:105459466G>C c.855C>G c.(853-855)ttC>ttG p.F285L CESC 3 105464807 105464807 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 g.chr3:105464807C>T c.799G>A c.(799-801)Gat>Aat p.D267N COAD 3 105377848 105377848 + Missense_Mutation SNP A A G TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr3:105377848A>G c.2915T>C c.(2914-2916)tTc>tCc p.F972S COAD 3 105377875 105377875 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr3:105377875G>A c.2888C>T c.(2887-2889)gCc>gTc p.A963V COAD 3 105389107 105389107 + Nonsense_Mutation SNP G G A TCGA-AA-3679-01A-02W-0900-09 TCGA-AA-3679-10A-01W-0900-09 g.chr3:105389107G>A c.2659C>T c.(2659-2661)Cag>Tag p.Q887* COAD 3 105400588 105400588 + Missense_Mutation SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr3:105400588T>C c.2276A>G c.(2275-2277)gAc>gGc p.D759G COAD 3 105400588 105400588 + Missense_Mutation SNP T T C TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr3:105400588T>C c.2276A>G c.(2275-2277)gAc>gGc p.D759G COAD 3 105412384 105412384 + Missense_Mutation SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr3:105412384G>A c.2008C>T c.(2008-2010)Cgg>Tgg p.R670W COAD 3 105412419 105412419 + Missense_Mutation SNP C C G TCGA-AA-A00O-01A-02W-A00E-09 TCGA-AA-A00O-10A-01W-A00E-09 g.chr3:105412419C>G c.1973G>C c.(1972-1974)gGt>gCt p.G658A COAD 3 105412432 105412432 + Splice_Site SNP C C T TCGA-AA-3664-01A-01W-0900-09 TCGA-AA-3664-10A-01W-0900-09 g.chr3:105412432C>T c.1960G>A c.(1960-1962)Gtc>Atc p.V654I COAD 3 105421042 105421042 + Missense_Mutation SNP T T C TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr3:105421042T>C c.1855A>G c.(1855-1857)Atc>Gtc p.I619V COAD 3 105422903 105422903 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:105422903G>A c.1522C>T c.(1522-1524)Cct>Tct p.P508S COAD 3 105438956 105438956 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:105438956C>T c.1342G>A c.(1342-1344)Gac>Aac p.D448N COAD 3 105438963 105438963 + Silent SNP C C T TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr3:105438963C>T c.1335G>A c.(1333-1335)ccG>ccA p.P445P COAD 3 105438964 105438964 + Missense_Mutation SNP G G A TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr3:105438964G>A c.1334C>T c.(1333-1335)cCg>cTg p.P445L COAD 3 105452858 105452858 + Missense_Mutation SNP A A G TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr3:105452858A>G c.1198T>C c.(1198-1200)Tgg>Cgg p.W400R COAD 3 105470449 105470449 + Missense_Mutation SNP A A G TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr3:105470449A>G c.580T>C c.(580-582)Tgg>Cgg p.W194R COADREAD 3 105377848 105377848 + Missense_Mutation SNP A A G TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr3:105377848A>G c.2915T>C c.(2914-2916)tTc>tCc p.F972S COADREAD 3 105377875 105377875 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr3:105377875G>A c.2888C>T c.(2887-2889)gCc>gTc p.A963V COADREAD 3 105389107 105389107 + Nonsense_Mutation SNP G G A TCGA-AA-3679-01A-02W-0900-09 TCGA-AA-3679-10A-01W-0900-09 g.chr3:105389107G>A c.2659C>T c.(2659-2661)Cag>Tag p.Q887* COADREAD 3 105400588 105400588 + Missense_Mutation SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr3:105400588T>C c.2276A>G c.(2275-2277)gAc>gGc p.D759G COADREAD 3 105400588 105400588 + Missense_Mutation SNP T T C TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr3:105400588T>C c.2276A>G c.(2275-2277)gAc>gGc p.D759G COADREAD 3 105412384 105412384 + Missense_Mutation SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr3:105412384G>A c.2008C>T c.(2008-2010)Cgg>Tgg p.R670W COADREAD 3 105412419 105412419 + Missense_Mutation SNP C C G TCGA-AA-A00O-01A-02W-A00E-09 TCGA-AA-A00O-10A-01W-A00E-09 g.chr3:105412419C>G c.1973G>C c.(1972-1974)gGt>gCt p.G658A COADREAD 3 105412432 105412432 + Splice_Site SNP C C T TCGA-AA-3664-01A-01W-0900-09 TCGA-AA-3664-10A-01W-0900-09 g.chr3:105412432C>T c.1960G>A c.(1960-1962)Gtc>Atc p.V654I COADREAD 3 105421042 105421042 + Missense_Mutation SNP T T C TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr3:105421042T>C c.1855A>G c.(1855-1857)Atc>Gtc p.I619V COADREAD 3 105421116 105421116 + Missense_Mutation SNP C C T TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr3:105421116C>T c.1781G>A c.(1780-1782)tGc>tAc p.C594Y COADREAD 3 105422903 105422903 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:105422903G>A c.1522C>T c.(1522-1524)Cct>Tct p.P508S COADREAD 3 105438956 105438956 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:105438956C>T c.1342G>A c.(1342-1344)Gac>Aac p.D448N COADREAD 3 105438963 105438963 + Silent SNP C C T TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr3:105438963C>T c.1335G>A c.(1333-1335)ccG>ccA p.P445P COADREAD 3 105438964 105438964 + Missense_Mutation SNP G G A TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr3:105438964G>A c.1334C>T c.(1333-1335)cCg>cTg p.P445L COADREAD 3 105452858 105452858 + Missense_Mutation SNP A A G TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr3:105452858A>G c.1198T>C c.(1198-1200)Tgg>Cgg p.W400R COADREAD 3 105459353 105459353 + Missense_Mutation SNP C C A TCGA-AG-A01W-01A-21W-A096-10 TCGA-AG-A01W-11A-11W-A096-10 g.chr3:105459353C>A c.968G>T c.(967-969)gGc>gTc p.G323V COADREAD 3 105470358 105470358 + Missense_Mutation SNP C C T TCGA-DC-6157-01A-11D-1657-10 TCGA-DC-6157-10A-01D-1657-10 g.chr3:105470358C>T c.671G>A c.(670-672)tGc>tAc p.C224Y COADREAD 3 105470449 105470449 + Missense_Mutation SNP A A G TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr3:105470449A>G c.580T>C c.(580-582)Tgg>Cgg p.W194R DLBC 3 105495385 105495385 + Splice_Site SNP G G A TCGA-FA-A4BB-01A-11D-A31X-10 TCGA-FA-A4BB-10A-01D-A31X-10 g.chr3:105495385G>A c.421C>T c.(421-423)Cga>Tga p.R141* ESCA 3 105377882 105377882 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr3:105377882C>T c.2881G>A c.(2881-2883)Gaa>Aaa p.E961K ESCA 3 105421029 105421029 + Nonsense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 g.chr3:105421029G>T c.1868C>A c.(1867-1869)tCa>tAa p.S623* ESCA 3 105421182 105421182 + Missense_Mutation SNP C C G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 g.chr3:105421182C>G c.1715G>C c.(1714-1716)aGt>aCt p.S572T ESCA 3 105459455 105459455 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr3:105459455C>T c.866G>A c.(865-867)tGc>tAc p.C289Y GBM 3 105400636 105400636 + Missense_Mutation SNP A A G TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 g.chr3:105400636A>G c.2228T>C c.(2227-2229)cTg>cCg p.L743P GBMLGG 3 105389183 105389183 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:105389183A>G c.2583T>C c.(2581-2583)gaT>gaC p.D861D GBMLGG 3 105400636 105400636 + Missense_Mutation SNP A A G TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 g.chr3:105400636A>G c.2228T>C c.(2227-2229)cTg>cCg p.L743P GBMLGG 3 105452941 105452941 + Missense_Mutation SNP A A G TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 g.chr3:105452941A>G c.1115T>C c.(1114-1116)cTc>cCc p.L372P GBMLGG 3 105495351 105495351 + Missense_Mutation SNP T T A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 g.chr3:105495351T>A c.455A>T c.(454-456)cAc>cTc p.H152L HNSC 3 105377969 105377969 + Missense_Mutation SNP C C G TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr3:105377969C>G c.2794G>C c.(2794-2796)Gtc>Ctc p.V932L HNSC 3 105421037 105421037 + Silent SNP T T A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 g.chr3:105421037T>A c.1860A>T c.(1858-1860)acA>acT p.T620T HNSC 3 105456029 105456029 + Missense_Mutation SNP T T C TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr3:105456029T>C c.1057A>G c.(1057-1059)Ata>Gta p.I353V HNSC 3 105456100 105456100 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 g.chr3:105456100T>C c.986A>G c.(985-987)tAt>tGt p.Y329C HNSC 3 105459342 105459342 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr3:105459342C>T c.979G>A c.(979-981)Gga>Aga p.G327R HNSC 3 105572430 105572430 + Nonsense_Mutation SNP G G A TCGA-CV-A6JT-01A-11D-A31L-08 TCGA-CV-A6JT-10A-01D-A31J-08 g.chr3:105572430G>A c.247C>T c.(247-249)Cag>Tag p.Q83* HNSC 3 105572471 105572471 + Missense_Mutation SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 g.chr3:105572471T>C c.206A>G c.(205-207)aAt>aGt p.N69S HNSC 3 105586266 105586266 + Silent SNP G G C TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr3:105586266G>C c.156C>G c.(154-156)ctC>ctG p.L52L HNSC 3 105586348 105586348 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr3:105586348A>T c.74T>A c.(73-75)aTt>aAt p.I25N KICH 3 105464866 105464866 + Missense_Mutation SNP A A C TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr3:105464866A>C c.740T>G c.(739-741)tTg>tGg p.L247W KIPAN 3 105389115 105389115 + Missense_Mutation SNP C C A TCGA-CJ-4640-01A-02D-1386-10 TCGA-CJ-4640-11A-01D-1251-10 g.chr3:105389115C>A c.2651G>T c.(2650-2652)aGa>aTa p.R884I KIPAN 3 105400639 105400639 + Frame_Shift_Del DEL A A - TCGA-CW-5581-01A-02D-1534-10 TCGA-CW-5581-11A-01D-1535-10 g.chr3:105400639delA c.2225delT c.(2224-2226)atgfs p.M742fs KIPAN 3 105459395 105459395 + Missense_Mutation SNP G G T TCGA-F9-A8NY-01A-11D-A35Z-10 TCGA-F9-A8NY-10A-01D-A35Z-10 g.chr3:105459395G>T c.926C>A c.(925-927)aCc>aAc p.T309N KIPAN 3 105464866 105464866 + Missense_Mutation SNP A A C TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr3:105464866A>C c.740T>G c.(739-741)tTg>tGg p.L247W KIPAN 3 105572285 105572285 + Missense_Mutation SNP C C A TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr3:105572285C>A c.392G>T c.(391-393)aGa>aTa p.R131I KIRC 3 105389115 105389115 + Missense_Mutation SNP C C A TCGA-CJ-4640-01A-02D-1386-10 TCGA-CJ-4640-11A-01D-1251-10 g.chr3:105389115C>A c.2651G>T c.(2650-2652)aGa>aTa p.R884I KIRC 3 105400639 105400639 + Frame_Shift_Del DEL A A - TCGA-CW-5581-01A-02D-1534-10 TCGA-CW-5581-11A-01D-1535-10 g.chr3:105400639delA c.2225delT c.(2224-2226)atgfs p.M742fs KIRP 3 105459395 105459395 + Missense_Mutation SNP G G T TCGA-F9-A8NY-01A-11D-A35Z-10 TCGA-F9-A8NY-10A-01D-A35Z-10 g.chr3:105459395G>T c.926C>A c.(925-927)aCc>aAc p.T309N KIRP 3 105572285 105572285 + Missense_Mutation SNP C C A TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr3:105572285C>A c.392G>T c.(391-393)aGa>aTa p.R131I LGG 3 105389183 105389183 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:105389183A>G c.2583T>C c.(2581-2583)gaT>gaC p.D861D LGG 3 105452941 105452941 + Missense_Mutation SNP A A G TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 g.chr3:105452941A>G c.1115T>C c.(1114-1116)cTc>cCc p.L372P LGG 3 105495351 105495351 + Missense_Mutation SNP T T A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 g.chr3:105495351T>A c.455A>T c.(454-456)cAc>cTc p.H152L LIHC 3 105404274 105404274 + Silent SNP T T C TCGA-DD-AAW3-01A-11D-A40P-10 TCGA-DD-AAW3-10A-01D-A40P-10 g.chr3:105404274T>C c.2091A>G c.(2089-2091)aaA>aaG p.K697K LIHC 3 105452913 105452913 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr3:105452913delT c.1143delA c.(1141-1143)aaafs p.K381fs LIHC 3 105459455 105459455 + Missense_Mutation SNP C C A TCGA-RC-A7S9-01A-11D-A33Q-10 TCGA-RC-A7S9-10A-02D-A33Q-10 g.chr3:105459455C>A c.866G>T c.(865-867)tGc>tTc p.C289F LIHC 3 105464838 105464838 + Silent SNP T T C TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr3:105464838T>C c.768A>G c.(766-768)acA>acG p.T256T LIHC 3 105586253 105586253 + Splice_Site DEL C C - TCGA-K7-A6G5-01A-11D-A30V-10 TCGA-K7-A6G5-10A-01D-A30V-10 g.chr3:105586253delC c.e2+1 LUAD 3 105378032 105378032 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr3:105378032G>A c.2731C>T c.(2731-2733)Cgc>Tgc p.R911C LUAD 3 105378048 105378048 + Silent SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr3:105378048G>A c.2715C>T c.(2713-2715)ccC>ccT p.P905P LUAD 3 105400429 105400429 + Missense_Mutation SNP A A T TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr3:105400429A>T c.2322T>A c.(2320-2322)gaT>gaA p.D774E LUAD 3 105400431 105400431 + Missense_Mutation SNP C C A TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr3:105400431C>A c.2320G>T c.(2320-2322)Gat>Tat p.D774Y LUAD 3 105400605 105400605 + Silent SNP C C T TCGA-35-4122-01A-01D-1105-08 TCGA-35-4122-10A-01D-1105-08 g.chr3:105400605C>T c.2259G>A c.(2257-2259)aaG>aaA p.K753K LUAD 3 105412398 105412398 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr3:105412398T>C c.1994A>G c.(1993-1995)tAt>tGt p.Y665C LUAD 3 105422977 105422977 + Missense_Mutation SNP G G C TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr3:105422977G>C c.1448C>G c.(1447-1449)tCc>tGc p.S483C LUAD 3 105439010 105439010 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 g.chr3:105439010C>T c.1288G>A c.(1288-1290)Gat>Aat p.D430N LUAD 3 105456052 105456052 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr3:105456052C>G c.1034G>C c.(1033-1035)tGt>tCt p.C345S LUAD 3 105456067 105456067 + Missense_Mutation SNP T T C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 g.chr3:105456067T>C c.1019A>G c.(1018-1020)gAt>gGt p.D340G LUAD 3 105459348 105459348 + Missense_Mutation SNP T T C TCGA-55-6979-01A-11D-1945-08 TCGA-55-6979-11A-01D-1945-08 g.chr3:105459348T>C c.973A>G c.(973-975)Agg>Ggg p.R325G LUAD 3 105464841 105464841 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr3:105464841C>A c.765G>T c.(763-765)gtG>gtT p.V255V LUAD 3 105495359 105495359 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr3:105495359G>C c.447C>G c.(445-447)atC>atG p.I149M LUSC 3 105389121 105389121 + Missense_Mutation SNP G G C TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr3:105389121G>C c.2645C>G c.(2644-2646)aCt>aGt p.T882S LUSC 3 105421219 105421219 + Missense_Mutation SNP C C T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 g.chr3:105421219C>T c.1678G>A c.(1678-1680)Gaa>Aaa p.E560K LUSC 3 105438956 105438956 + Missense_Mutation SNP C C A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr3:105438956C>A c.1342G>T c.(1342-1344)Gac>Tac p.D448Y LUSC 3 105439079 105439079 + Missense_Mutation SNP C C A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr3:105439079C>A c.1219G>T c.(1219-1221)Ggc>Tgc p.G407C LUSC 3 105495385 105495385 + Splice_Site SNP G G A TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr3:105495385G>A c.421C>T c.(421-423)Cga>Tga p.R141* LUSC 3 105572277 105572277 + Missense_Mutation SNP C C T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 g.chr3:105572277C>T c.400G>A c.(400-402)Gaa>Aaa p.E134K LUSC 3 105586391 105586391 + Missense_Mutation SNP C C G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr3:105586391C>G c.31G>C c.(31-33)Ggt>Cgt p.G11R OV 3 105397360 105397360 + Silent SNP T T G TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 g.chr3:105397360T>G c.2484A>C c.(2482-2484)gcA>gcC p.A828A OV 3 105400587 105400587 + Missense_Mutation SNP G G C TCGA-24-1423-01A-01W-0545-08 TCGA-24-1423-10A-01W-0545-08 g.chr3:105400587G>C c.2277C>G c.(2275-2277)gaC>gaG p.D759E OV 3 105438963 105438963 + Silent SNP C C T TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 g.chr3:105438963C>T c.1335G>A c.(1333-1335)ccG>ccA p.P445P PAAD 3 105420979 105420979 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 g.chr3:105420979G>A c.1918C>T c.(1918-1920)Cgg>Tgg p.R640W PAAD 3 105456084 105456084 + Silent SNP C C T TCGA-2J-AABO-01A-21D-A40W-08 TCGA-2J-AABO-10A-01D-A40W-08 g.chr3:105456084C>T c.1002G>A c.(1000-1002)ggG>ggA p.G334G PAAD 3 105572504 105572504 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:105572504C>T c.173G>A c.(172-174)aGa>aAa p.R58K PRAD 3 105377969 105377969 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:105377969C>T c.2794G>A c.(2794-2796)Gtc>Atc p.V932I PRAD 3 105422838 105422838 + Silent SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:105422838T>C c.1587A>G c.(1585-1587)tcA>tcG p.S529S PRAD 3 105438945 105438945 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:105438945G>A c.1353C>T c.(1351-1353)gaC>gaT p.D451D READ 3 105421116 105421116 + Missense_Mutation SNP C C T TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr3:105421116C>T c.1781G>A c.(1780-1782)tGc>tAc p.C594Y READ 3 105459353 105459353 + Missense_Mutation SNP C C A TCGA-AG-A01W-01A-21W-A096-10 TCGA-AG-A01W-11A-11W-A096-10 g.chr3:105459353C>A c.968G>T c.(967-969)gGc>gTc p.G323V READ 3 105470358 105470358 + Missense_Mutation SNP C C T TCGA-DC-6157-01A-11D-1657-10 TCGA-DC-6157-10A-01D-1657-10 g.chr3:105470358C>T c.671G>A c.(670-672)tGc>tAc p.C224Y SARC 3 105412343 105412343 + Missense_Mutation SNP G G T TCGA-X6-A8C4-01A-11D-A36J-09 TCGA-X6-A8C4-10A-01D-A36M-09 g.chr3:105412343G>T c.2049C>A c.(2047-2049)agC>agA p.S683R SARC 3 105421207 105421207 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 g.chr3:105421207G>A c.1690C>T c.(1690-1692)Cca>Tca p.P564S SKCM 3 105377928 105377928 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr3:105377928G>A c.2835C>T c.(2833-2835)gcC>gcT p.A945A SKCM 3 105378019 105378019 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:105378019G>A c.2744C>T c.(2743-2745)cCa>cTa p.P915L SKCM 3 105378035 105378035 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr3:105378035G>A c.2728C>T c.(2728-2730)Ccg>Tcg p.P910S SKCM 3 105378047 105378047 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr3:105378047G>A c.2716C>T c.(2716-2718)Cct>Tct p.P906S SKCM 3 105378048 105378048 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr3:105378048G>A c.2715C>T c.(2713-2715)ccC>ccT p.P905P SKCM 3 105378050 105378050 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr3:105378050G>A c.2713C>T c.(2713-2715)Ccc>Tcc p.P905S SKCM 3 105397281 105397281 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:105397281G>A c.2563C>T c.(2563-2565)Cct>Tct p.P855S SKCM 3 105397331 105397331 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr3:105397331G>A c.2513C>T c.(2512-2514)cCt>cTt p.P838L SKCM 3 105400333 105400333 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr3:105400333G>A c.2418C>T c.(2416-2418)atC>atT p.I806I SKCM 3 105404212 105404212 + Missense_Mutation SNP G G A TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr3:105404212G>A c.2153C>T c.(2152-2154)tCc>tTc p.S718F SKCM 3 105412365 105412367 + In_Frame_Del DEL GGA GGA - TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chr3:105412365_105412367delGGA c.2025_2027delTCC c.(2023-2028)cctcca>cca p.675_676PP>P SKCM 3 105412371 105412371 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:105412371G>A c.2021C>T c.(2020-2022)cCt>cTt p.P674L SKCM 3 105412372 105412372 + Missense_Mutation SNP G G A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr3:105412372G>A c.2020C>T c.(2020-2022)Cct>Tct p.P674S SKCM 3 105412384 105412384 + Missense_Mutation SNP G G A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr3:105412384G>A c.2008C>T c.(2008-2010)Cgg>Tgg p.R670W SKCM 3 105421045 105421045 + Missense_Mutation SNP C C T TCGA-D3-A1Q5-06A-11D-A196-08 TCGA-D3-A1Q5-10A-01D-A198-08 g.chr3:105421045C>T c.1852G>A c.(1852-1854)Gga>Aga p.G618R SKCM 3 105421053 105421053 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr3:105421053G>A c.1844C>T c.(1843-1845)cCa>cTa p.P615L SKCM 3 105421075 105421075 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr3:105421075G>A c.1822C>T c.(1822-1824)Cga>Tga p.R608* SKCM 3 105421145 105421145 + Silent SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:105421145T>C c.1752A>G c.(1750-1752)agA>agG p.R584R SKCM 3 105421148 105421148 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 g.chr3:105421148G>A c.1749C>T c.(1747-1749)tcC>tcT p.S583S SKCM 3 105421149 105421149 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 g.chr3:105421149G>A c.1748C>T c.(1747-1749)tCc>tTc p.S583F SKCM 3 105422934 105422934 + Silent SNP G G C TCGA-ER-A1A1-06A-11D-A197-08 TCGA-ER-A1A1-10A-01D-A199-08 g.chr3:105422934G>C c.1491C>G c.(1489-1491)ctC>ctG p.L497L SKCM 3 105422976 105422976 + Silent SNP G G A TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr3:105422976G>A c.1449C>T c.(1447-1449)tcC>tcT p.S483S SKCM 3 105438891 105438891 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr3:105438891C>T c.1407G>A c.(1405-1407)aaG>aaA p.K469K SKCM 3 105438911 105438911 + Missense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr3:105438911G>A c.1387C>T c.(1387-1389)Cgg>Tgg p.R463W SKCM 3 105438935 105438935 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr3:105438935G>A c.1363C>T c.(1363-1365)Cgt>Tgt p.R455C SKCM 3 105439016 105439016 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr3:105439016G>A c.1282C>T c.(1282-1284)Cca>Tca p.P428S SKCM 3 105470439 105470439 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr3:105470439A>T c.590T>A c.(589-591)tTc>tAc p.F197Y SKCM 3 105586288 105586288 + Missense_Mutation SNP G G A TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr3:105586288G>A c.134C>T c.(133-135)aCc>aTc p.T45I

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 3 105404305 105404305 single base substitution G C missense_variant T687S 2060C>G BLCA-CN 3 105404305 105404305 single base substitution G C missense_variant T709S 2126C>G BLCA-CN 3 105404305 105404305 single base substitution G C missense_variant T70S 209C>G BLCA-CN 3 105404305 105404305 single base substitution G C upstream_gene_variant BLCA-US 3 105377858 105377858 single base substitution C T exon_variant BLCA-US 3 105377858 105377858 single base substitution C T missense_variant E184K 550G>A BLCA-US 3 105377858 105377858 single base substitution C T missense_variant E308K 922G>A BLCA-US 3 105377858 105377858 single base substitution C T missense_variant E947K 2839G>A BLCA-US 3 105377858 105377858 single base substitution C T missense_variant E969K 2905G>A BLCA-US 3 105377939 105377939 single base substitution C G exon_variant BLCA-US 3 105377939 105377939 single base substitution C G missense_variant E157Q 469G>C BLCA-US 3 105377939 105377939 single base substitution C G missense_variant E281Q 841G>C BLCA-US 3 105377939 105377939 single base substitution C G missense_variant E920Q 2758G>C BLCA-US 3 105377939 105377939 single base substitution C G missense_variant E942Q 2824G>C BLCA-US 3 105377987 105377987 single base substitution C T exon_variant BLCA-US 3 105377987 105377987 single base substitution C T missense_variant E141K 421G>A BLCA-US 3 105377987 105377987 single base substitution C T missense_variant E265K 793G>A BLCA-US 3 105377987 105377987 single base substitution C T missense_variant E904K 2710G>A BLCA-US 3 105377987 105377987 single base substitution C T missense_variant E926K 2776G>A BLCA-US 3 105378062 105378062 single base substitution C T exon_variant BLCA-US 3 105378062 105378062 single base substitution C T missense_variant A116T 346G>A BLCA-US 3 105378062 105378062 single base substitution C T missense_variant A240T 718G>A BLCA-US 3 105378062 105378062 single base substitution C T missense_variant A879T 2635G>A BLCA-US 3 105378062 105378062 single base substitution C T missense_variant A901T 2701G>A BLCA-US 3 105400433 105400433 single base substitution G C 3_prime_UTR_variant BLCA-US 3 105400433 105400433 single base substitution G C intron_variant BLCA-US 3 105400433 105400433 single base substitution G C missense_variant S773C 2318C>G BLCA-US 3 105421029 105421029 single base substitution G C stop_gained S6* 17C>G BLCA-US 3 105421029 105421029 single base substitution G C stop_gained S623* 1868C>G BLCA-US 3 105421029 105421029 single base substitution G C stop_gained S645* 1934C>G BLCA-US 3 105438984 105438984 single base substitution G A 3_prime_UTR_variant BLCA-US 3 105438984 105438984 single base substitution G A synonymous_variant I438I 1314C>T BLCA-US 3 105438984 105438984 single base substitution G A synonymous_variant I460I 1380C>T BLCA-US 3 105459361 105459361 single base substitution C G 3_prime_UTR_variant BLCA-US 3 105459361 105459361 single base substitution C G synonymous_variant L320L 960G>C BLCA-US 3 105459361 105459361 single base substitution C G synonymous_variant L342L 1026G>C BOCA-FR 3 105408151 105408151 single base substitution T C intron_variant BOCA-FR 3 105436677 105436677 single base substitution A G downstream_gene_variant BOCA-FR 3 105436677 105436677 single base substitution A G intron_variant BRCA-EU 3 105369740 105369740 single base substitution T C downstream_gene_variant BRCA-EU 3 105371789 105371789 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 105372727 105372727 single base substitution G A downstream_gene_variant BRCA-EU 3 105373508 105373508 single base substitution T C downstream_gene_variant BRCA-EU 3 105375151 105375151 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 105375151 105375151 single base substitution C G downstream_gene_variant BRCA-EU 3 105375234 105375234 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 105375234 105375234 single base substitution C G downstream_gene_variant BRCA-EU 3 105375362 105375362 single base substitution T G 3_prime_UTR_variant BRCA-EU 3 105375362 105375362 single base substitution T G downstream_gene_variant BRCA-EU 3 105375811 105375812 deletion of <=200bp AA - 3_prime_UTR_variant BRCA-EU 3 105375811 105375812 deletion of <=200bp AA - downstream_gene_variant BRCA-EU 3 105375986 105375986 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 3 105375986 105375986 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 105376694 105376694 single base substitution C A 3_prime_UTR_variant BRCA-EU 3 105376694 105376694 single base substitution C A downstream_gene_variant BRCA-EU 3 105377091 105377091 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 3 105377091 105377091 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 105378063 105378063 single base substitution C A exon_variant BRCA-EU 3 105378063 105378063 single base substitution C A missense_variant Q115H 345G>T BRCA-EU 3 105378063 105378063 single base substitution C A missense_variant Q239H 717G>T BRCA-EU 3 105378063 105378063 single base substitution C A missense_variant Q878H 2634G>T BRCA-EU 3 105378063 105378063 single base substitution C A missense_variant Q900H 2700G>T BRCA-EU 3 105380522 105380522 single base substitution G A intron_variant BRCA-EU 3 105380607 105380607 single base substitution C A intron_variant BRCA-EU 3 105381513 105381513 single base substitution A T intron_variant BRCA-EU 3 105381944 105381944 single base substitution G A intron_variant BRCA-EU 3 105382295 105382295 single base substitution C A intron_variant BRCA-EU 3 105382813 105382813 single base substitution C T intron_variant BRCA-EU 3 105383034 105383034 single base substitution C A intron_variant BRCA-EU 3 105383698 105383698 single base substitution T C intron_variant BRCA-EU 3 105383706 105383706 single base substitution C T intron_variant BRCA-EU 3 105384199 105384199 single base substitution C T intron_variant BRCA-EU 3 105385530 105385530 insertion of <=200bp - A intron_variant BRCA-EU 3 105385987 105385987 single base substitution A T intron_variant BRCA-EU 3 105386318 105386318 deletion of <=200bp C - intron_variant BRCA-EU 3 105386905 105386905 deletion of <=200bp A - intron_variant BRCA-EU 3 105389286 105389286 single base substitution T C exon_variant BRCA-EU 3 105389286 105389286 single base substitution T C intron_variant BRCA-EU 3 105389628 105389628 single base substitution C G exon_variant BRCA-EU 3 105389628 105389628 single base substitution C G intron_variant BRCA-EU 3 105390216 105390216 single base substitution C T exon_variant BRCA-EU 3 105390216 105390216 single base substitution C T intron_variant BRCA-EU 3 105391863 105391863 deletion of <=200bp A - exon_variant BRCA-EU 3 105391863 105391863 deletion of <=200bp A - intron_variant BRCA-EU 3 105393062 105393062 single base substitution C T intron_variant BRCA-EU 3 105393062 105393062 single base substitution C T upstream_gene_variant BRCA-EU 3 105394639 105394639 single base substitution G A intron_variant BRCA-EU 3 105394639 105394639 single base substitution G A upstream_gene_variant BRCA-EU 3 105395117 105395117 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 105395117 105395117 deletion of <=200bp T - intron_variant BRCA-EU 3 105395117 105395117 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 105397124 105397124 single base substitution C T downstream_gene_variant BRCA-EU 3 105397124 105397124 single base substitution C T intron_variant BRCA-EU 3 105397124 105397124 single base substitution C T upstream_gene_variant BRCA-EU 3 105397706 105397706 single base substitution G A downstream_gene_variant BRCA-EU 3 105397706 105397706 single base substitution G A intron_variant BRCA-EU 3 105397706 105397706 single base substitution G A upstream_gene_variant BRCA-EU 3 105398503 105398503 single base substitution C A downstream_gene_variant BRCA-EU 3 105398503 105398503 single base substitution C A intron_variant BRCA-EU 3 105399470 105399470 single base substitution G C downstream_gene_variant BRCA-EU 3 105399470 105399470 single base substitution G C intron_variant BRCA-EU 3 105399532 105399532 single base substitution C T downstream_gene_variant BRCA-EU 3 105399532 105399532 single base substitution C T intron_variant BRCA-EU 3 105401723 105401723 single base substitution G A intron_variant BRCA-EU 3 105401723 105401723 single base substitution G A upstream_gene_variant BRCA-EU 3 105402108 105402108 deletion of <=200bp A - intron_variant BRCA-EU 3 105402108 105402108 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 105403271 105403271 single base substitution T A intron_variant BRCA-EU 3 105403271 105403271 single base substitution T A upstream_gene_variant BRCA-EU 3 105404321 105404321 deletion of <=200bp A - intron_variant BRCA-EU 3 105404321 105404321 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 105405422 105405422 single base substitution G C intron_variant BRCA-EU 3 105405422 105405422 single base substitution G C upstream_gene_variant BRCA-EU 3 105405431 105405431 single base substitution G A intron_variant BRCA-EU 3 105405431 105405431 single base substitution G A upstream_gene_variant BRCA-EU 3 105405469 105405469 single base substitution G A intron_variant BRCA-EU 3 105405469 105405469 single base substitution G A upstream_gene_variant BRCA-EU 3 105406824 105406824 deletion of <=200bp A - intron_variant BRCA-EU 3 105408221 105408221 insertion of <=200bp - A intron_variant BRCA-EU 3 105408320 105408320 single base substitution C G intron_variant BRCA-EU 3 105408602 105408602 single base substitution T C intron_variant BRCA-EU 3 105408919 105408919 single base substitution C A intron_variant BRCA-EU 3 105410799 105410799 single base substitution C G intron_variant BRCA-EU 3 105411213 105411213 single base substitution G A intron_variant BRCA-EU 3 105414946 105414946 insertion of <=200bp - AT intron_variant BRCA-EU 3 105415334 105415334 single base substitution A C intron_variant BRCA-EU 3 105415344 105415344 single base substitution C T intron_variant BRCA-EU 3 105416717 105416717 single base substitution G C intron_variant BRCA-EU 3 105418153 105418153 single base substitution G A intron_variant BRCA-EU 3 105418578 105418578 single base substitution A C intron_variant BRCA-EU 3 105418595 105418595 single base substitution G A intron_variant BRCA-EU 3 105419322 105419322 single base substitution A T intron_variant BRCA-EU 3 105420198 105420198 single base substitution C G intron_variant BRCA-EU 3 105420563 105420563 single base substitution C T intron_variant BRCA-EU 3 105420848 105420848 deletion of <=200bp A - intron_variant BRCA-EU 3 105422122 105422122 single base substitution G C intron_variant BRCA-EU 3 105422122 105422122 single base substitution G C upstream_gene_variant BRCA-EU 3 105422961 105422961 single base substitution C T synonymous_variant Q488Q 1464G>A BRCA-EU 3 105422961 105422961 single base substitution C T synonymous_variant Q510Q 1530G>A BRCA-EU 3 105422961 105422961 single base substitution C T upstream_gene_variant BRCA-EU 3 105423313 105423313 single base substitution C G intron_variant BRCA-EU 3 105423313 105423313 single base substitution C G upstream_gene_variant BRCA-EU 3 105424484 105424484 single base substitution C T intron_variant BRCA-EU 3 105424484 105424484 single base substitution C T upstream_gene_variant BRCA-EU 3 105425868 105425868 single base substitution T C intron_variant BRCA-EU 3 105425868 105425868 single base substitution T C upstream_gene_variant BRCA-EU 3 105426096 105426096 single base substitution C T intron_variant BRCA-EU 3 105426350 105426350 single base substitution T G intron_variant BRCA-EU 3 105427583 105427583 single base substitution C A intron_variant BRCA-EU 3 105427680 105427680 single base substitution G A intron_variant BRCA-EU 3 105428611 105428611 single base substitution G A intron_variant BRCA-EU 3 105429519 105429519 single base substitution C G intron_variant BRCA-EU 3 105429683 105429683 single base substitution C G intron_variant BRCA-EU 3 105429715 105429715 single base substitution G A intron_variant BRCA-EU 3 105430452 105430452 single base substitution A G intron_variant BRCA-EU 3 105430620 105430620 single base substitution C T intron_variant BRCA-EU 3 105431374 105431374 single base substitution C G intron_variant BRCA-EU 3 105433161 105433161 single base substitution G A intron_variant BRCA-EU 3 105433366 105433366 single base substitution C G intron_variant BRCA-EU 3 105433478 105433478 single base substitution G T intron_variant BRCA-EU 3 105434140 105434140 single base substitution C T downstream_gene_variant BRCA-EU 3 105434140 105434140 single base substitution C T intron_variant BRCA-EU 3 105437033 105437033 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 105437033 105437033 insertion of <=200bp - A intron_variant BRCA-EU 3 105439050 105439050 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 3 105439050 105439050 deletion of <=200bp T - frameshift_variant K416 BRCA-EU 3 105439050 105439050 deletion of <=200bp T - frameshift_variant K438 BRCA-EU 3 105440674 105440674 single base substitution G C intron_variant BRCA-EU 3 105442628 105442628 insertion of <=200bp - T intron_variant BRCA-EU 3 105442727 105442727 single base substitution C T intron_variant BRCA-EU 3 105443085 105443085 single base substitution C T intron_variant BRCA-EU 3 105446055 105446055 single base substitution T C intron_variant BRCA-EU 3 105446075 105446075 single base substitution C T intron_variant BRCA-EU 3 105446794 105446794 single base substitution G A intron_variant BRCA-EU 3 105447279 105447279 single base substitution T G intron_variant BRCA-EU 3 105447470 105447470 single base substitution G C intron_variant BRCA-EU 3 105448185 105448185 single base substitution G A intron_variant BRCA-EU 3 105448791 105448791 single base substitution G A intron_variant BRCA-EU 3 105449490 105449490 single base substitution A G intron_variant BRCA-EU 3 105452000 105452000 single base substitution G A intron_variant BRCA-EU 3 105452102 105452102 single base substitution G A intron_variant BRCA-EU 3 105454790 105454790 insertion of <=200bp - A intron_variant BRCA-EU 3 105458526 105458527 deletion of <=200bp AT - intron_variant BRCA-EU 3 105458576 105458576 single base substitution C T intron_variant BRCA-EU 3 105458731 105458731 single base substitution G C intron_variant BRCA-EU 3 105458878 105458878 single base substitution C T intron_variant BRCA-EU 3 105458880 105458880 single base substitution G C intron_variant BRCA-EU 3 105459449 105459449 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 105459449 105459449 single base substitution C T missense_variant R291Q 872G>A BRCA-EU 3 105459449 105459449 single base substitution C T missense_variant R313Q 938G>A BRCA-EU 3 105461599 105461599 single base substitution T C intron_variant BRCA-EU 3 105461970 105461970 single base substitution T C intron_variant BRCA-EU 3 105464125 105464125 single base substitution G T intron_variant BRCA-EU 3 105464416 105464416 deletion of <=200bp A - intron_variant BRCA-EU 3 105466870 105466870 single base substitution G A intron_variant BRCA-EU 3 105467676 105467676 single base substitution C G intron_variant BRCA-EU 3 105469019 105469019 single base substitution C T intron_variant BRCA-EU 3 105469775 105469775 single base substitution T G intron_variant BRCA-EU 3 105472410 105472410 deletion of <=200bp A - intron_variant BRCA-EU 3 105472568 105472568 single base substitution A T intron_variant BRCA-EU 3 105473247 105473247 single base substitution G A intron_variant BRCA-EU 3 105473431 105473431 single base substitution G C intron_variant BRCA-EU 3 105474469 105474469 single base substitution C G intron_variant BRCA-EU 3 105475428 105475428 insertion of <=200bp - T intron_variant BRCA-EU 3 105475604 105475604 single base substitution G A intron_variant BRCA-EU 3 105478230 105478230 single base substitution C G intron_variant BRCA-EU 3 105479271 105479271 single base substitution C T intron_variant BRCA-EU 3 105483274 105483274 single base substitution C G intron_variant BRCA-EU 3 105484766 105484766 single base substitution G A intron_variant BRCA-EU 3 105488931 105488931 insertion of <=200bp - G intron_variant BRCA-EU 3 105489144 105489144 single base substitution G A intron_variant BRCA-EU 3 105490060 105490060 single base substitution G C intron_variant BRCA-EU 3 105490319 105490319 single base substitution G A intron_variant BRCA-EU 3 105490596 105490596 single base substitution G C intron_variant BRCA-EU 3 105492161 105492161 single base substitution A G intron_variant BRCA-EU 3 105492939 105492939 single base substitution G T intron_variant BRCA-EU 3 105495049 105495049 insertion of <=200bp - A intron_variant BRCA-EU 3 105495541 105495541 deletion of <=200bp A - intron_variant BRCA-EU 3 105499678 105499678 single base substitution T A intron_variant BRCA-EU 3 105499909 105499909 single base substitution T G intron_variant BRCA-EU 3 105499924 105499924 single base substitution G T intron_variant BRCA-EU 3 105500130 105500130 single base substitution G C intron_variant BRCA-EU 3 105500638 105500638 single base substitution T G intron_variant BRCA-EU 3 105500701 105500710 deletion of <=200bp AAGCTAGAAC - intron_variant BRCA-EU 3 105501565 105501565 single base substitution T G intron_variant BRCA-EU 3 105502647 105502647 single base substitution G A intron_variant BRCA-EU 3 105503066 105503066 single base substitution T C intron_variant BRCA-EU 3 105503965 105503965 single base substitution G A intron_variant BRCA-EU 3 105504265 105504265 insertion of <=200bp - T intron_variant BRCA-EU 3 105504556 105504556 single base substitution C T intron_variant BRCA-EU 3 105505661 105505669 deletion of <=200bp TTATATAGA - intron_variant BRCA-EU 3 105506055 105506055 single base substitution A G intron_variant BRCA-EU 3 105506079 105506079 single base substitution A C intron_variant BRCA-EU 3 105507299 105507299 deletion of <=200bp A - intron_variant BRCA-EU 3 105509083 105509083 single base substitution T G intron_variant BRCA-EU 3 105509417 105509417 single base substitution C T intron_variant BRCA-EU 3 105510512 105510512 single base substitution G A intron_variant BRCA-EU 3 105510610 105510610 insertion of <=200bp - G intron_variant BRCA-EU 3 105511219 105511219 single base substitution C T intron_variant BRCA-EU 3 105511867 105511867 single base substitution A G intron_variant BRCA-EU 3 105512077 105512077 single base substitution G C intron_variant BRCA-EU 3 105513161 105513161 single base substitution A G intron_variant BRCA-EU 3 105513225 105513225 single base substitution G A intron_variant BRCA-EU 3 105515185 105515187 deletion of <=200bp AGA - intron_variant BRCA-EU 3 105515238 105515238 single base substitution G A intron_variant BRCA-EU 3 105515804 105515804 single base substitution G C intron_variant BRCA-EU 3 105516743 105516743 single base substitution G C intron_variant BRCA-EU 3 105519380 105519380 single base substitution G A intron_variant BRCA-EU 3 105519574 105519574 single base substitution G A intron_variant BRCA-EU 3 105520712 105520749 deletion of <=200bp CACTTTGAGCTGTAACCTTGGAAAAATCCTGAAAGATC - intron_variant BRCA-EU 3 105520773 105520773 single base substitution G C intron_variant BRCA-EU 3 105521615 105521615 single base substitution A C intron_variant BRCA-EU 3 105521642 105521642 single base substitution A G intron_variant BRCA-EU 3 105523671 105523671 single base substitution G C intron_variant BRCA-EU 3 105525892 105525892 single base substitution T A intron_variant BRCA-EU 3 105525981 105525981 single base substitution G A intron_variant BRCA-EU 3 105528560 105528560 single base substitution T G intron_variant BRCA-EU 3 105528781 105528781 single base substitution C G intron_variant BRCA-EU 3 105532418 105532418 single base substitution A G intron_variant BRCA-EU 3 105533803 105533803 single base substitution C A intron_variant BRCA-EU 3 105534033 105534033 single base substitution G A intron_variant BRCA-EU 3 105534697 105534697 single base substitution T C intron_variant BRCA-EU 3 105534992 105534992 single base substitution C A intron_variant BRCA-EU 3 105535088 105535088 single base substitution G C intron_variant BRCA-EU 3 105535424 105535424 deletion of <=200bp A - intron_variant BRCA-EU 3 105536190 105536190 deletion of <=200bp T - intron_variant BRCA-EU 3 105538164 105538164 single base substitution C A intron_variant BRCA-EU 3 105540791 105540791 single base substitution C T intron_variant BRCA-EU 3 105541062 105541062 single base substitution G C intron_variant BRCA-EU 3 105541510 105541510 single base substitution C G intron_variant BRCA-EU 3 105541883 105541883 single base substitution G C intron_variant BRCA-EU 3 105543674 105543674 single base substitution G T intron_variant BRCA-EU 3 105543852 105543852 single base substitution G T intron_variant BRCA-EU 3 105543895 105543895 single base substitution C T intron_variant BRCA-EU 3 105546493 105546493 single base substitution A G intron_variant BRCA-EU 3 105549044 105549044 single base substitution A T intron_variant BRCA-EU 3 105549318 105549334 deletion of <=200bp ATCATATAACAAGAAAG - intron_variant BRCA-EU 3 105549999 105549999 single base substitution T C intron_variant BRCA-EU 3 105551014 105551014 single base substitution T C intron_variant BRCA-EU 3 105552007 105552007 single base substitution G A intron_variant BRCA-EU 3 105552531 105552531 single base substitution T C intron_variant BRCA-EU 3 105553727 105553727 single base substitution C A intron_variant BRCA-EU 3 105555041 105555041 single base substitution C T intron_variant BRCA-EU 3 105556071 105556071 single base substitution G A intron_variant BRCA-EU 3 105557329 105557329 single base substitution A G intron_variant BRCA-EU 3 105557704 105557704 single base substitution G A intron_variant BRCA-EU 3 105558332 105558332 single base substitution G A intron_variant BRCA-EU 3 105559019 105559019 single base substitution C T intron_variant BRCA-EU 3 105559147 105559147 single base substitution G C intron_variant BRCA-EU 3 105559890 105559890 single base substitution C A intron_variant BRCA-EU 3 105560019 105560019 single base substitution A T intron_variant BRCA-EU 3 105560020 105560020 single base substitution G T intron_variant BRCA-EU 3 105561402 105561402 single base substitution G A intron_variant BRCA-EU 3 105562202 105562202 single base substitution G A intron_variant BRCA-EU 3 105562432 105562432 single base substitution C A intron_variant BRCA-EU 3 105562929 105562929 single base substitution C G intron_variant BRCA-EU 3 105565604 105565604 single base substitution G C intron_variant BRCA-EU 3 105567735 105567735 single base substitution C A downstream_gene_variant BRCA-EU 3 105567735 105567735 single base substitution C A intron_variant BRCA-EU 3 105570315 105570315 single base substitution C T downstream_gene_variant BRCA-EU 3 105570315 105570315 single base substitution C T intron_variant BRCA-EU 3 105571198 105571198 single base substitution C G downstream_gene_variant BRCA-EU 3 105571198 105571198 single base substitution C G intron_variant BRCA-EU 3 105571242 105571242 single base substitution T A downstream_gene_variant BRCA-EU 3 105571242 105571242 single base substitution T A intron_variant BRCA-EU 3 105571590 105571590 single base substitution T A downstream_gene_variant BRCA-EU 3 105571590 105571590 single base substitution T A intron_variant BRCA-EU 3 105571664 105571664 single base substitution C A downstream_gene_variant BRCA-EU 3 105571664 105571664 single base substitution C A intron_variant BRCA-EU 3 105572020 105572020 single base substitution T A downstream_gene_variant BRCA-EU 3 105572020 105572020 single base substitution T A intron_variant BRCA-EU 3 105572820 105572820 deletion of <=200bp T - intron_variant BRCA-EU 3 105572967 105572967 single base substitution G A intron_variant BRCA-EU 3 105573147 105573147 single base substitution G T intron_variant BRCA-EU 3 105573325 105573325 single base substitution G C intron_variant BRCA-EU 3 105573570 105573570 single base substitution G A intron_variant BRCA-EU 3 105575854 105575854 single base substitution G A intron_variant BRCA-EU 3 105576004 105576004 deletion of <=200bp T - intron_variant BRCA-EU 3 105577161 105577161 single base substitution C T intron_variant BRCA-EU 3 105578587 105578587 insertion of <=200bp - TA intron_variant BRCA-EU 3 105579495 105579495 single base substitution C T intron_variant BRCA-EU 3 105581270 105581270 single base substitution C G intron_variant BRCA-EU 3 105584749 105584749 single base substitution A C intron_variant BRCA-EU 3 105584957 105584957 single base substitution G A intron_variant BRCA-EU 3 105585079 105585079 single base substitution C T intron_variant BRCA-EU 3 105585604 105585604 single base substitution A C intron_variant BRCA-EU 3 105585756 105585756 single base substitution G T intron_variant BRCA-EU 3 105586048 105586048 single base substitution G C intron_variant BRCA-EU 3 105586794 105586794 single base substitution C T intron_variant BRCA-EU 3 105588536 105588536 single base substitution C G upstream_gene_variant BRCA-EU 3 105588648 105588648 single base substitution G A upstream_gene_variant BRCA-EU 3 105589829 105589829 single base substitution C T upstream_gene_variant BRCA-EU 3 105590820 105590820 single base substitution G A upstream_gene_variant BRCA-EU 3 105591319 105591319 single base substitution A G upstream_gene_variant BRCA-EU 3 105593224 105593224 single base substitution A G upstream_gene_variant BRCA-FR 3 105393062 105393062 single base substitution C T intron_variant BRCA-FR 3 105393062 105393062 single base substitution C T upstream_gene_variant BRCA-FR 3 105399470 105399470 single base substitution G C downstream_gene_variant BRCA-FR 3 105399470 105399470 single base substitution G C intron_variant BRCA-FR 3 105399532 105399532 single base substitution C T downstream_gene_variant BRCA-FR 3 105399532 105399532 single base substitution C T intron_variant BRCA-FR 3 105406028 105406028 single base substitution C G intron_variant BRCA-FR 3 105427680 105427680 single base substitution G A intron_variant BRCA-FR 3 105433161 105433161 single base substitution G A intron_variant BRCA-FR 3 105433478 105433478 single base substitution G T intron_variant BRCA-FR 3 105457575 105457575 single base substitution T G intron_variant BRCA-FR 3 105464125 105464125 single base substitution G T intron_variant BRCA-FR 3 105466870 105466870 single base substitution G A intron_variant BRCA-FR 3 105499909 105499909 single base substitution T G intron_variant BRCA-FR 3 105521615 105521615 single base substitution A C intron_variant BRCA-FR 3 105528781 105528781 single base substitution C G intron_variant BRCA-FR 3 105541062 105541062 single base substitution G C intron_variant BRCA-FR 3 105541883 105541883 single base substitution G C intron_variant BRCA-FR 3 105544492 105544492 single base substitution G C intron_variant BRCA-FR 3 105546493 105546493 single base substitution A G intron_variant BRCA-FR 3 105549999 105549999 single base substitution T C intron_variant BRCA-FR 3 105551279 105551279 single base substitution G C intron_variant BRCA-FR 3 105565604 105565604 single base substitution G C intron_variant BRCA-FR 3 105567735 105567735 single base substitution C A downstream_gene_variant BRCA-FR 3 105567735 105567735 single base substitution C A intron_variant BRCA-FR 3 105571664 105571664 single base substitution C A downstream_gene_variant BRCA-FR 3 105571664 105571664 single base substitution C A intron_variant BRCA-FR 3 105590340 105590340 single base substitution G T upstream_gene_variant BRCA-FR 3 105590820 105590820 single base substitution G A upstream_gene_variant BRCA-UK 3 105373508 105373508 single base substitution T C downstream_gene_variant BRCA-UK 3 105401723 105401723 single base substitution G A intron_variant BRCA-UK 3 105401723 105401723 single base substitution G A upstream_gene_variant BRCA-UK 3 105416717 105416717 single base substitution G C intron_variant BRCA-UK 3 105445745 105445745 single base substitution C G intron_variant BRCA-UK 3 105448653 105448653 single base substitution T C intron_variant BRCA-UK 3 105502062 105502062 single base substitution C G intron_variant BRCA-UK 3 105505844 105505844 single base substitution C T intron_variant BRCA-UK 3 105510329 105510329 single base substitution C G intron_variant BRCA-UK 3 105586794 105586794 single base substitution C T intron_variant BRCA-US 3 105377845 105377845 single base substitution G A exon_variant BRCA-US 3 105377845 105377845 single base substitution G A missense_variant P188L 563C>T BRCA-US 3 105377845 105377845 single base substitution G A missense_variant P312L 935C>T BRCA-US 3 105377845 105377845 single base substitution G A missense_variant P951L 2852C>T BRCA-US 3 105377845 105377845 single base substitution G A missense_variant P973L 2918C>T BRCA-US 3 105397361 105397361 single base substitution G A downstream_gene_variant BRCA-US 3 105397361 105397361 single base substitution G A missense_variant A167V 500C>T BRCA-US 3 105397361 105397361 single base substitution G A missense_variant A43V 128C>T BRCA-US 3 105397361 105397361 single base substitution G A missense_variant A806V 2417C>T BRCA-US 3 105397361 105397361 single base substitution G A missense_variant A828V 2483C>T BRCA-US 3 105397361 105397361 single base substitution G A upstream_gene_variant BRCA-US 3 105397410 105397410 single base substitution C G downstream_gene_variant BRCA-US 3 105397410 105397410 single base substitution C G missense_variant D151H 451G>C BRCA-US 3 105397410 105397410 single base substitution C G missense_variant D27H 79G>C BRCA-US 3 105397410 105397410 single base substitution C G missense_variant D790H 2368G>C BRCA-US 3 105397410 105397410 single base substitution C G missense_variant D812H 2434G>C BRCA-US 3 105397410 105397410 single base substitution C G upstream_gene_variant BRCA-US 3 105404165 105404165 single base substitution G A missense_variant R117W 349C>T BRCA-US 3 105404165 105404165 single base substitution G A missense_variant R734W 2200C>T BRCA-US 3 105404165 105404165 single base substitution G A missense_variant R756W 2266C>T BRCA-US 3 105404165 105404165 single base substitution G A upstream_gene_variant BRCA-US 3 105421040 105421040 single base substitution G T synonymous_variant I2I 6C>A BRCA-US 3 105421040 105421040 single base substitution G T synonymous_variant I619I 1857C>A BRCA-US 3 105421040 105421040 single base substitution G T synonymous_variant I641I 1923C>A BRCA-US 3 105421144 105421144 single base substitution C T missense_variant D585N 1753G>A BRCA-US 3 105421144 105421144 single base substitution C T missense_variant D607N 1819G>A BRCA-US 3 105421144 105421144 single base substitution C T upstream_gene_variant BRCA-US 3 105421211 105421211 single base substitution A T synonymous_variant P562P 1686T>A BRCA-US 3 105421211 105421211 single base substitution A T synonymous_variant P584P 1752T>A BRCA-US 3 105421211 105421211 single base substitution A T upstream_gene_variant BRCA-US 3 105421267 105421267 single base substitution G C missense_variant L544V 1630C>G BRCA-US 3 105421267 105421267 single base substitution G C missense_variant L566V 1696C>G BRCA-US 3 105421267 105421267 single base substitution G C upstream_gene_variant BRCA-US 3 105422910 105422910 single base substitution T G synonymous_variant P505P 1515A>C BRCA-US 3 105422910 105422910 single base substitution T G synonymous_variant P527P 1581A>C BRCA-US 3 105422910 105422910 single base substitution T G upstream_gene_variant BRCA-US 3 105439088 105439088 single base substitution C T 3_prime_UTR_variant BRCA-US 3 105439088 105439088 single base substitution C T missense_variant D404N 1210G>A BRCA-US 3 105439088 105439088 single base substitution C T missense_variant D426N 1276G>A BRCA-US 3 105452983 105452983 single base substitution T C missense_variant E358G 1073A>G BRCA-US 3 105452983 105452983 single base substitution T C missense_variant E380G 1139A>G BRCA-US 3 105452983 105452983 single base substitution T C splice_region_variant BRCA-US 3 105459369 105459369 single base substitution G C 3_prime_UTR_variant BRCA-US 3 105459369 105459369 single base substitution G C missense_variant Q318E 952C>G BRCA-US 3 105459369 105459369 single base substitution G C missense_variant Q340E 1018C>G BRCA-US 3 105464837 105464837 single base substitution G A 3_prime_UTR_variant BRCA-US 3 105464837 105464837 single base substitution G A missense_variant H257Y 769C>T BRCA-US 3 105464837 105464837 single base substitution G A missense_variant H279Y 835C>T BRCA-US 3 105495384 105495384 single base substitution C T intron_variant BRCA-US 3 105495384 105495384 single base substitution C T missense_variant R141Q 422G>A BRCA-US 3 105495384 105495384 single base substitution C T missense_variant R163Q 488G>A BRCA-US 3 105572448 105572448 single base substitution T C missense_variant I77V 229A>G BRCA-US 3 105572448 105572448 single base substitution T C missense_variant I99V 295A>G BRCA-US 3 105586354 105586354 single base substitution A C missense_variant L23W 68T>G BRCA-US 3 105586354 105586354 single base substitution A C missense_variant L45W 134T>G BRCA-US 3 105586395 105586395 single base substitution G T missense_variant N31K 93C>A BRCA-US 3 105586395 105586395 single base substitution G T missense_variant N9K 27C>A BTCA-JP 3 105404274 105404274 single base substitution T A missense_variant K697N 2091A>T BTCA-JP 3 105404274 105404274 single base substitution T A missense_variant K719N 2157A>T BTCA-JP 3 105404274 105404274 single base substitution T A missense_variant K80N 240A>T BTCA-JP 3 105404274 105404274 single base substitution T A upstream_gene_variant BTCA-JP 3 105404321 105404321 deletion of <=200bp A - intron_variant BTCA-JP 3 105404321 105404321 deletion of <=200bp A - upstream_gene_variant BTCA-JP 3 105412426 105412426 single base substitution A C missense_variant S39A 115T>G BTCA-JP 3 105412426 105412426 single base substitution A C missense_variant S656A 1966T>G BTCA-JP 3 105412426 105412426 single base substitution A C missense_variant S678A 2032T>G BTCA-JP 3 105412449 105412449 single base substitution T G intron_variant BTCA-JP 3 105421344 105421344 single base substitution C A intron_variant BTCA-JP 3 105421344 105421344 single base substitution C A upstream_gene_variant BTCA-JP 3 105421345 105421345 single base substitution T A intron_variant BTCA-JP 3 105421345 105421345 single base substitution T A upstream_gene_variant BTCA-JP 3 105459322 105459322 single base substitution C A intron_variant BTCA-JP 3 105464875 105464875 single base substitution C T 3_prime_UTR_variant BTCA-JP 3 105464875 105464875 single base substitution C T missense_variant G244D 731G>A BTCA-JP 3 105464875 105464875 single base substitution C T missense_variant G266D 797G>A BTCA-JP 3 105495393 105495393 single base substitution G A intron_variant BTCA-JP 3 105495393 105495393 single base substitution G A splice_region_variant BTCA-JP 3 105572471 105572471 single base substitution T C missense_variant N69S 206A>G BTCA-JP 3 105572471 105572471 single base substitution T C missense_variant N91S 272A>G BTCA-JP 3 105572533 105572533 single base substitution T C intron_variant CESC-US 3 105377916 105377916 single base substitution C T exon_variant CESC-US 3 105377916 105377916 single base substitution C T synonymous_variant V164V 492G>A CESC-US 3 105377916 105377916 single base substitution C T synonymous_variant V288V 864G>A CESC-US 3 105377916 105377916 single base substitution C T synonymous_variant V927V 2781G>A CESC-US 3 105377916 105377916 single base substitution C T synonymous_variant V949V 2847G>A CESC-US 3 105397350 105397350 single base substitution G A downstream_gene_variant CESC-US 3 105397350 105397350 single base substitution G A missense_variant L171F 511C>T CESC-US 3 105397350 105397350 single base substitution G A missense_variant L47F 139C>T CESC-US 3 105397350 105397350 single base substitution G A missense_variant L810F 2428C>T CESC-US 3 105397350 105397350 single base substitution G A missense_variant L832F 2494C>T CESC-US 3 105397350 105397350 single base substitution G A upstream_gene_variant CESC-US 3 105400388 105400388 single base substitution T C 3_prime_UTR_variant CESC-US 3 105400388 105400388 single base substitution T C intron_variant CESC-US 3 105400388 105400388 single base substitution T C missense_variant N788S 2363A>G CESC-US 3 105420966 105420966 single base substitution C T missense_variant R27H 80G>A CESC-US 3 105420966 105420966 single base substitution C T missense_variant R644H 1931G>A CESC-US 3 105420966 105420966 single base substitution C T missense_variant R666H 1997G>A CESC-US 3 105459466 105459466 single base substitution G C 3_prime_UTR_variant CESC-US 3 105459466 105459466 single base substitution G C missense_variant F285L 855C>G CESC-US 3 105459466 105459466 single base substitution G C missense_variant F307L 921C>G CESC-US 3 105464807 105464807 single base substitution C T 3_prime_UTR_variant CESC-US 3 105464807 105464807 single base substitution C T missense_variant D267N 799G>A CESC-US 3 105464807 105464807 single base substitution C T missense_variant D289N 865G>A CLLE-ES 3 105385227 105385227 single base substitution A G intron_variant CLLE-ES 3 105390563 105390563 deletion of <=200bp T - exon_variant CLLE-ES 3 105390563 105390563 deletion of <=200bp T - intron_variant CLLE-ES 3 105431353 105431353 single base substitution T G intron_variant CLLE-ES 3 105475962 105475962 single base substitution G A intron_variant CLLE-ES 3 105483100 105483100 single base substitution T A intron_variant CLLE-ES 3 105501431 105501431 single base substitution T C intron_variant CLLE-ES 3 105504639 105504639 single base substitution T A intron_variant CLLE-ES 3 105511445 105511445 single base substitution C G intron_variant CLLE-ES 3 105516179 105516179 single base substitution A T intron_variant CLLE-ES 3 105516226 105516226 single base substitution T A intron_variant CLLE-ES 3 105516296 105516296 single base substitution G C intron_variant CLLE-ES 3 105535610 105535610 single base substitution C T intron_variant CLLE-ES 3 105544668 105544668 single base substitution C A intron_variant CLLE-ES 3 105548591 105548591 single base substitution A G intron_variant CLLE-ES 3 105559607 105559607 single base substitution T C intron_variant CLLE-ES 3 105576246 105576247 deletion of <=200bp AA - intron_variant COAD-US 3 105377875 105377875 single base substitution G A exon_variant COAD-US 3 105377875 105377875 single base substitution G A missense_variant A178V 533C>T COAD-US 3 105377875 105377875 single base substitution G A missense_variant A302V 905C>T COAD-US 3 105377875 105377875 single base substitution G A missense_variant A941V 2822C>T COAD-US 3 105377875 105377875 single base substitution G A missense_variant A963V 2888C>T COAD-US 3 105422903 105422903 single base substitution G A missense_variant P508S 1522C>T COAD-US 3 105422903 105422903 single base substitution G A missense_variant P530S 1588C>T COAD-US 3 105422903 105422903 single base substitution G A upstream_gene_variant COAD-US 3 105438957 105438957 single base substitution T G 3_prime_UTR_variant COAD-US 3 105438957 105438957 single base substitution T G synonymous_variant L447L 1341A>C COAD-US 3 105438957 105438957 single base substitution T G synonymous_variant L469L 1407A>C COAD-US 3 105439026 105439026 single base substitution G A 3_prime_UTR_variant COAD-US 3 105439026 105439026 single base substitution G A synonymous_variant D424D 1272C>T COAD-US 3 105439026 105439026 single base substitution G A synonymous_variant D446D 1338C>T COCA-CN 3 105377827 105377827 single base substitution C T exon_variant COCA-CN 3 105377827 105377827 single base substitution C T missense_variant R194H 581G>A COCA-CN 3 105377827 105377827 single base substitution C T missense_variant R318H 953G>A COCA-CN 3 105377827 105377827 single base substitution C T missense_variant R957H 2870G>A COCA-CN 3 105377827 105377827 single base substitution C T missense_variant R979H 2936G>A COCA-CN 3 105397293 105397293 single base substitution G T downstream_gene_variant COCA-CN 3 105397293 105397293 single base substitution G T missense_variant L190I 568C>A COCA-CN 3 105397293 105397293 single base substitution G T missense_variant L66I 196C>A COCA-CN 3 105397293 105397293 single base substitution G T missense_variant L829I 2485C>A COCA-CN 3 105397293 105397293 single base substitution G T missense_variant L851I 2551C>A COCA-CN 3 105397293 105397293 single base substitution G T upstream_gene_variant COCA-CN 3 105422814 105422814 single base substitution C G intron_variant COCA-CN 3 105422814 105422814 single base substitution C G upstream_gene_variant COCA-CN 3 105439186 105439186 single base substitution C A intron_variant COCA-CN 3 105453069 105453069 single base substitution C T intron_variant COCA-CN 3 105459449 105459449 single base substitution C T 3_prime_UTR_variant COCA-CN 3 105459449 105459449 single base substitution C T missense_variant R291Q 872G>A COCA-CN 3 105459449 105459449 single base substitution C T missense_variant R313Q 938G>A COCA-CN 3 105464874 105464874 single base substitution G A 3_prime_UTR_variant COCA-CN 3 105464874 105464874 single base substitution G A synonymous_variant G244G 732C>T COCA-CN 3 105464874 105464874 single base substitution G A synonymous_variant G266G 798C>T COCA-CN 3 105470217 105470217 single base substitution T A intron_variant COCA-CN 3 105525291 105525291 single base substitution T G intron_variant COCA-CN 3 105586165 105586165 single base substitution T C intron_variant COCA-CN 3 105586511 105586511 single base substitution A G intron_variant EOPC-DE 3 105398502 105398502 single base substitution C A downstream_gene_variant EOPC-DE 3 105398502 105398502 single base substitution C A intron_variant EOPC-DE 3 105508604 105508604 single base substitution T C intron_variant EOPC-DE 3 105517951 105517951 single base substitution T A intron_variant ESAD-UK 3 105369414 105369414 single base substitution G T downstream_gene_variant ESAD-UK 3 105370286 105370286 single base substitution A T downstream_gene_variant ESAD-UK 3 105370386 105370386 single base substitution C G downstream_gene_variant ESAD-UK 3 105371166 105371166 single base substitution A G downstream_gene_variant ESAD-UK 3 105371789 105371789 insertion of <=200bp - T downstream_gene_variant ESAD-UK 3 105373754 105373754 single base substitution C T downstream_gene_variant ESAD-UK 3 105374723 105374723 single base substitution A G 3_prime_UTR_variant ESAD-UK 3 105374723 105374723 single base substitution A G downstream_gene_variant ESAD-UK 3 105379817 105379817 single base substitution T C intron_variant ESAD-UK 3 105380076 105380076 single base substitution C A intron_variant ESAD-UK 3 105380976 105380976 single base substitution C A intron_variant ESAD-UK 3 105381918 105381918 single base substitution C T intron_variant ESAD-UK 3 105382967 105382967 single base substitution T C intron_variant ESAD-UK 3 105384986 105384986 single base substitution T C intron_variant ESAD-UK 3 105385219 105385219 single base substitution G T intron_variant ESAD-UK 3 105386888 105386888 single base substitution G A intron_variant ESAD-UK 3 105388336 105388336 single base substitution T C intron_variant ESAD-UK 3 105388554 105388554 single base substitution G T intron_variant ESAD-UK 3 105389317 105389317 single base substitution T A exon_variant ESAD-UK 3 105389317 105389317 single base substitution T A intron_variant ESAD-UK 3 105389611 105389611 single base substitution A T exon_variant ESAD-UK 3 105389611 105389611 single base substitution A T intron_variant ESAD-UK 3 105390533 105390533 single base substitution G A exon_variant ESAD-UK 3 105390533 105390533 single base substitution G A intron_variant ESAD-UK 3 105391100 105391117 deletion of <=200bp TGTACTATATTCTTCCAT - exon_variant ESAD-UK 3 105391100 105391117 deletion of <=200bp TGTACTATATTCTTCCAT - intron_variant ESAD-UK 3 105391865 105391865 single base substitution A C exon_variant ESAD-UK 3 105391865 105391865 single base substitution A C intron_variant ESAD-UK 3 105392726 105392726 single base substitution T A exon_variant ESAD-UK 3 105392726 105392726 single base substitution T A intron_variant ESAD-UK 3 105393121 105393121 single base substitution G A intron_variant ESAD-UK 3 105393121 105393121 single base substitution G A upstream_gene_variant ESAD-UK 3 105393880 105393880 single base substitution C T intron_variant ESAD-UK 3 105393880 105393880 single base substitution C T upstream_gene_variant ESAD-UK 3 105394084 105394084 single base substitution A G intron_variant ESAD-UK 3 105394084 105394084 single base substitution A G upstream_gene_variant ESAD-UK 3 105395487 105395487 insertion of <=200bp - A downstream_gene_variant ESAD-UK 3 105395487 105395487 insertion of <=200bp - A intron_variant ESAD-UK 3 105395487 105395487 insertion of <=200bp - A upstream_gene_variant ESAD-UK 3 105396800 105396800 single base substitution A G downstream_gene_variant ESAD-UK 3 105396800 105396800 single base substitution A G intron_variant ESAD-UK 3 105396800 105396800 single base substitution A G upstream_gene_variant ESAD-UK 3 105397357 105397357 single base substitution C T downstream_gene_variant ESAD-UK 3 105397357 105397357 single base substitution C T synonymous_variant R168R 504G>A ESAD-UK 3 105397357 105397357 single base substitution C T synonymous_variant R44R 132G>A ESAD-UK 3 105397357 105397357 single base substitution C T synonymous_variant R807R 2421G>A ESAD-UK 3 105397357 105397357 single base substitution C T synonymous_variant R829R 2487G>A ESAD-UK 3 105397357 105397357 single base substitution C T upstream_gene_variant ESAD-UK 3 105399961 105399961 single base substitution A G 3_prime_UTR_variant ESAD-UK 3 105399961 105399961 single base substitution A G intron_variant ESAD-UK 3 105400895 105400895 single base substitution A C 5_prime_UTR_variant ESAD-UK 3 105400895 105400895 single base substitution A C intron_variant ESAD-UK 3 105401031 105401031 single base substitution C T intron_variant ESAD-UK 3 105401031 105401031 single base substitution C T upstream_gene_variant ESAD-UK 3 105405813 105405813 single base substitution A C intron_variant ESAD-UK 3 105405813 105405813 single base substitution A C upstream_gene_variant ESAD-UK 3 105406362 105406362 single base substitution C A intron_variant ESAD-UK 3 105406775 105406775 single base substitution A G intron_variant ESAD-UK 3 105409426 105409426 single base substitution G A intron_variant ESAD-UK 3 105410437 105410437 single base substitution G A intron_variant ESAD-UK 3 105410701 105410701 single base substitution C T intron_variant ESAD-UK 3 105411684 105411684 single base substitution A T intron_variant ESAD-UK 3 105412230 105412230 single base substitution T C intron_variant ESAD-UK 3 105413192 105413192 single base substitution C T intron_variant ESAD-UK 3 105413670 105413670 single base substitution T C intron_variant ESAD-UK 3 105413949 105413949 single base substitution C T intron_variant ESAD-UK 3 105414932 105414932 insertion of <=200bp - AC intron_variant ESAD-UK 3 105414987 105414987 single base substitution T C intron_variant ESAD-UK 3 105417096 105417096 single base substitution C T intron_variant ESAD-UK 3 105417701 105417701 single base substitution T C intron_variant ESAD-UK 3 105419803 105419803 single base substitution T A intron_variant ESAD-UK 3 105422580 105422580 single base substitution T C intron_variant ESAD-UK 3 105422580 105422580 single base substitution T C upstream_gene_variant ESAD-UK 3 105422634 105422634 single base substitution T C intron_variant ESAD-UK 3 105422634 105422634 single base substitution T C upstream_gene_variant ESAD-UK 3 105427336 105427336 single base substitution A T intron_variant ESAD-UK 3 105427655 105427655 single base substitution A C intron_variant ESAD-UK 3 105428892 105428892 deletion of <=200bp T - intron_variant ESAD-UK 3 105429160 105429160 single base substitution T G intron_variant ESAD-UK 3 105430341 105430341 single base substitution G T intron_variant ESAD-UK 3 105432841 105432841 single base substitution T C intron_variant ESAD-UK 3 105435099 105435099 single base substitution A G downstream_gene_variant ESAD-UK 3 105435099 105435099 single base substitution A G intron_variant ESAD-UK 3 105435535 105435535 single base substitution A G downstream_gene_variant ESAD-UK 3 105435535 105435535 single base substitution A G intron_variant ESAD-UK 3 105435677 105435677 single base substitution T A downstream_gene_variant ESAD-UK 3 105435677 105435677 single base substitution T A intron_variant ESAD-UK 3 105436125 105436125 insertion of <=200bp - A downstream_gene_variant ESAD-UK 3 105436125 105436125 insertion of <=200bp - A intron_variant ESAD-UK 3 105436321 105436321 deletion of <=200bp T - downstream_gene_variant ESAD-UK 3 105436321 105436321 deletion of <=200bp T - intron_variant ESAD-UK 3 105437476 105437476 single base substitution G A downstream_gene_variant ESAD-UK 3 105437476 105437476 single base substitution G A intron_variant ESAD-UK 3 105437677 105437677 single base substitution G T downstream_gene_variant ESAD-UK 3 105437677 105437677 single base substitution G T intron_variant ESAD-UK 3 105438381 105438381 single base substitution A C downstream_gene_variant ESAD-UK 3 105438381 105438381 single base substitution A C intron_variant ESAD-UK 3 105438446 105438446 single base substitution G A downstream_gene_variant ESAD-UK 3 105438446 105438446 single base substitution G A intron_variant ESAD-UK 3 105438925 105438925 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 105438925 105438925 single base substitution G A missense_variant S458F 1373C>T ESAD-UK 3 105438925 105438925 single base substitution G A missense_variant S480F 1439C>T ESAD-UK 3 105444419 105444419 single base substitution C T intron_variant ESAD-UK 3 105445315 105445315 single base substitution T C intron_variant ESAD-UK 3 105447422 105447422 single base substitution G T intron_variant ESAD-UK 3 105447756 105447756 single base substitution A G intron_variant ESAD-UK 3 105447864 105447864 single base substitution C T intron_variant ESAD-UK 3 105448408 105448408 single base substitution A G intron_variant ESAD-UK 3 105451687 105451687 single base substitution G A intron_variant ESAD-UK 3 105451706 105451706 single base substitution T A intron_variant ESAD-UK 3 105452003 105452003 single base substitution C T intron_variant ESAD-UK 3 105454517 105454517 single base substitution G A intron_variant ESAD-UK 3 105455212 105455212 single base substitution G A intron_variant ESAD-UK 3 105456001 105456001 single base substitution G A intron_variant ESAD-UK 3 105456085 105456085 single base substitution C G 3_prime_UTR_variant ESAD-UK 3 105456085 105456085 single base substitution C G missense_variant G334A 1001G>C ESAD-UK 3 105456085 105456085 single base substitution C G missense_variant G356A 1067G>C ESAD-UK 3 105457093 105457093 single base substitution C T intron_variant ESAD-UK 3 105461368 105461368 single base substitution C T intron_variant ESAD-UK 3 105461421 105461421 single base substitution C T intron_variant ESAD-UK 3 105461635 105461635 single base substitution A G intron_variant ESAD-UK 3 105462934 105462934 single base substitution T C intron_variant ESAD-UK 3 105463516 105463516 single base substitution C T intron_variant ESAD-UK 3 105463665 105463665 single base substitution T G intron_variant ESAD-UK 3 105463921 105463921 single base substitution G A intron_variant ESAD-UK 3 105464526 105464526 single base substitution A T intron_variant ESAD-UK 3 105465166 105465166 single base substitution C G intron_variant ESAD-UK 3 105466315 105466315 insertion of <=200bp - T intron_variant ESAD-UK 3 105466722 105466722 single base substitution T A intron_variant ESAD-UK 3 105466962 105466962 deletion of <=200bp T - intron_variant ESAD-UK 3 105466969 105466969 single base substitution T A intron_variant ESAD-UK 3 105467300 105467300 single base substitution C T intron_variant ESAD-UK 3 105467591 105467591 single base substitution A G intron_variant ESAD-UK 3 105468071 105468071 single base substitution G A intron_variant ESAD-UK 3 105469192 105469192 single base substitution C T intron_variant ESAD-UK 3 105469618 105469618 single base substitution A G intron_variant ESAD-UK 3 105470036 105470036 single base substitution G A intron_variant ESAD-UK 3 105471329 105471329 single base substitution A C intron_variant ESAD-UK 3 105472110 105472110 insertion of <=200bp - A intron_variant ESAD-UK 3 105472223 105472223 single base substitution A T intron_variant ESAD-UK 3 105474349 105474349 insertion of <=200bp - A intron_variant ESAD-UK 3 105478379 105478379 single base substitution C T intron_variant ESAD-UK 3 105479624 105479624 single base substitution A G intron_variant ESAD-UK 3 105479780 105479780 single base substitution C G intron_variant ESAD-UK 3 105481356 105481356 single base substitution C T intron_variant ESAD-UK 3 105482362 105482362 single base substitution A T intron_variant ESAD-UK 3 105482768 105482768 single base substitution C T intron_variant ESAD-UK 3 105485134 105485134 single base substitution T C intron_variant ESAD-UK 3 105485964 105485964 single base substitution C G intron_variant ESAD-UK 3 105486209 105486211 deletion of <=200bp TAT - intron_variant ESAD-UK 3 105486212 105486212 single base substitution T G intron_variant ESAD-UK 3 105488407 105488407 single base substitution A G intron_variant ESAD-UK 3 105489373 105489373 single base substitution A C intron_variant ESAD-UK 3 105491216 105491216 single base substitution C G intron_variant ESAD-UK 3 105492341 105492341 single base substitution A G intron_variant ESAD-UK 3 105494586 105494586 single base substitution A T intron_variant ESAD-UK 3 105495029 105495029 single base substitution A C intron_variant ESAD-UK 3 105495346 105495346 single base substitution G A intron_variant ESAD-UK 3 105495346 105495346 single base substitution G A synonymous_variant L154L 460C>T ESAD-UK 3 105495346 105495346 single base substitution G A synonymous_variant L176L 526C>T ESAD-UK 3 105495890 105495890 single base substitution A G intron_variant ESAD-UK 3 105496961 105496961 single base substitution G T intron_variant ESAD-UK 3 105498799 105498799 single base substitution G T intron_variant ESAD-UK 3 105500482 105500482 single base substitution A G intron_variant ESAD-UK 3 105501054 105501054 single base substitution T G intron_variant ESAD-UK 3 105502757 105502757 single base substitution A C intron_variant ESAD-UK 3 105503837 105503837 single base substitution C A intron_variant ESAD-UK 3 105505861 105505861 single base substitution T C intron_variant ESAD-UK 3 105507435 105507435 single base substitution A T intron_variant ESAD-UK 3 105508532 105508532 single base substitution G A intron_variant ESAD-UK 3 105512470 105512470 single base substitution A G intron_variant ESAD-UK 3 105512501 105512501 single base substitution C T intron_variant ESAD-UK 3 105512684 105512684 single base substitution T G intron_variant ESAD-UK 3 105513372 105513372 single base substitution G A intron_variant ESAD-UK 3 105513570 105513570 single base substitution T G intron_variant ESAD-UK 3 105515372 105515372 single base substitution T G intron_variant ESAD-UK 3 105515815 105515815 single base substitution A G intron_variant ESAD-UK 3 105517087 105517087 single base substitution C A intron_variant ESAD-UK 3 105517576 105517576 deletion of <=200bp T - intron_variant ESAD-UK 3 105519255 105519255 single base substitution G C intron_variant ESAD-UK 3 105520224 105520224 single base substitution T C intron_variant ESAD-UK 3 105520850 105520850 single base substitution C T intron_variant ESAD-UK 3 105521199 105521199 single base substitution T C intron_variant ESAD-UK 3 105521335 105521335 single base substitution G A intron_variant ESAD-UK 3 105522117 105522117 single base substitution G A intron_variant ESAD-UK 3 105522185 105522185 single base substitution C A intron_variant ESAD-UK 3 105522522 105522522 single base substitution A T intron_variant ESAD-UK 3 105522597 105522597 single base substitution A T intron_variant ESAD-UK 3 105524397 105524397 single base substitution G T intron_variant ESAD-UK 3 105525515 105525515 single base substitution A T intron_variant ESAD-UK 3 105526647 105526647 single base substitution G A intron_variant ESAD-UK 3 105528575 105528575 single base substitution A G intron_variant ESAD-UK 3 105528702 105528702 single base substitution C T intron_variant ESAD-UK 3 105530010 105530010 single base substitution T C intron_variant ESAD-UK 3 105530671 105530671 single base substitution A G intron_variant ESAD-UK 3 105533158 105533158 single base substitution A C intron_variant ESAD-UK 3 105534068 105534068 insertion of <=200bp - A intron_variant ESAD-UK 3 105536832 105536832 deletion of <=200bp T - intron_variant ESAD-UK 3 105537051 105537051 single base substitution T C intron_variant ESAD-UK 3 105537779 105537779 single base substitution T C intron_variant ESAD-UK 3 105538012 105538012 single base substitution G C intron_variant ESAD-UK 3 105541309 105541309 single base substitution C A intron_variant ESAD-UK 3 105541836 105541836 single base substitution G A intron_variant ESAD-UK 3 105541936 105541936 single base substitution G A intron_variant ESAD-UK 3 105543804 105543804 single base substitution T A intron_variant ESAD-UK 3 105544738 105544738 single base substitution T C intron_variant ESAD-UK 3 105545419 105545419 single base substitution G T intron_variant ESAD-UK 3 105548094 105548094 deletion of <=200bp A - intron_variant ESAD-UK 3 105549292 105549292 single base substitution C T intron_variant ESAD-UK 3 105551734 105551734 single base substitution G A intron_variant ESAD-UK 3 105552693 105552693 single base substitution C A intron_variant ESAD-UK 3 105554282 105554282 single base substitution G A intron_variant ESAD-UK 3 105554653 105554653 single base substitution C T intron_variant ESAD-UK 3 105555947 105555947 single base substitution G C intron_variant ESAD-UK 3 105556411 105556411 single base substitution G T intron_variant ESAD-UK 3 105558186 105558186 single base substitution G C intron_variant ESAD-UK 3 105558459 105558459 single base substitution A C intron_variant ESAD-UK 3 105559066 105559066 single base substitution C A intron_variant ESAD-UK 3 105560345 105560345 single base substitution G A intron_variant ESAD-UK 3 105560595 105560595 single base substitution C G intron_variant ESAD-UK 3 105560843 105560844 deletion of <=200bp AC - intron_variant ESAD-UK 3 105561068 105561068 single base substitution G A intron_variant ESAD-UK 3 105563373 105563373 single base substitution G A intron_variant ESAD-UK 3 105563933 105563933 single base substitution T A intron_variant ESAD-UK 3 105565165 105565165 single base substitution G C intron_variant ESAD-UK 3 105566981 105566981 single base substitution C A intron_variant ESAD-UK 3 105572828 105572828 single base substitution T A intron_variant ESAD-UK 3 105573667 105573667 single base substitution G T intron_variant ESAD-UK 3 105575014 105575014 single base substitution T C intron_variant ESAD-UK 3 105577229 105577229 single base substitution A C intron_variant ESAD-UK 3 105577316 105577316 single base substitution T C intron_variant ESAD-UK 3 105577582 105577582 single base substitution T A intron_variant ESAD-UK 3 105579445 105579445 single base substitution C T intron_variant ESAD-UK 3 105587194 105587194 single base substitution T A intron_variant ESAD-UK 3 105587195 105587195 single base substitution C A intron_variant ESAD-UK 3 105587966 105587966 single base substitution G A 5_prime_UTR_variant ESAD-UK 3 105587966 105587966 single base substitution G A intron_variant ESAD-UK 3 105587966 105587966 single base substitution G A upstream_gene_variant ESAD-UK 3 105588199 105588199 single base substitution G C 5_prime_UTR_variant ESAD-UK 3 105588199 105588199 single base substitution G C intron_variant ESAD-UK 3 105588199 105588199 single base substitution G C missense_variant H12D 34C>G ESAD-UK 3 105588199 105588199 single base substitution G C upstream_gene_variant ESAD-UK 3 105589092 105589092 single base substitution T C upstream_gene_variant ESAD-UK 3 105589571 105589571 single base substitution G T upstream_gene_variant ESAD-UK 3 105590862 105590862 single base substitution C T upstream_gene_variant ESAD-UK 3 105591191 105591191 single base substitution G A upstream_gene_variant ESAD-UK 3 105592039 105592039 single base substitution A G upstream_gene_variant ESAD-UK 3 105592782 105592782 deletion of <=200bp A - upstream_gene_variant ESCA-CN 3 105421309 105421309 single base substitution G A splice_region_variant ESCA-CN 3 105421309 105421309 single base substitution G A upstream_gene_variant ESCA-CN 3 105421313 105421313 single base substitution C A intron_variant ESCA-CN 3 105421313 105421313 single base substitution C A upstream_gene_variant ESCA-CN 3 105450301 105450301 single base substitution T A intron_variant ESCA-CN 3 105588326 105588326 single base substitution C T 5_prime_UTR_variant ESCA-CN 3 105588326 105588326 single base substitution C T upstream_gene_variant GBM-US 3 105400636 105400636 single base substitution A G missense_variant L126P 377T>C GBM-US 3 105400636 105400636 single base substitution A G missense_variant L2P 5T>C GBM-US 3 105400636 105400636 single base substitution A G missense_variant L743P 2228T>C GBM-US 3 105400636 105400636 single base substitution A G missense_variant L765P 2294T>C KIRC-US 3 105389115 105389115 single base substitution C A exon_variant KIRC-US 3 105389115 105389115 single base substitution C A missense_variant R223I 668G>T KIRC-US 3 105389115 105389115 single base substitution C A missense_variant R862I 2585G>T KIRC-US 3 105389115 105389115 single base substitution C A missense_variant R884I 2651G>T KIRC-US 3 105389115 105389115 single base substitution C A missense_variant R99I 296G>T KIRC-US 3 105400639 105400639 deletion of <=200bp A - frameshift_variant M1 KIRC-US 3 105400639 105400639 deletion of <=200bp A - frameshift_variant M125 KIRC-US 3 105400639 105400639 deletion of <=200bp A - frameshift_variant M742 KIRC-US 3 105400639 105400639 deletion of <=200bp A - frameshift_variant M764 KIRP-US 3 105572285 105572285 single base substitution C A missense_variant R131I 392G>T KIRP-US 3 105572285 105572285 single base substitution C A missense_variant R153I 458G>T LAML-KR 3 105420834 105420834 single base substitution G C intron_variant LAML-KR 3 105438806 105438806 single base substitution G A downstream_gene_variant LAML-KR 3 105438806 105438806 single base substitution G A intron_variant LAML-KR 3 105559727 105559727 single base substitution A G intron_variant LGG-US 3 105495351 105495351 single base substitution T A intron_variant LGG-US 3 105495351 105495351 single base substitution T A missense_variant H152L 455A>T LGG-US 3 105495351 105495351 single base substitution T A missense_variant H174L 521A>T LICA-CN 3 105397344 105397344 single base substitution C T downstream_gene_variant LICA-CN 3 105397344 105397344 single base substitution C T missense_variant E173K 517G>A LICA-CN 3 105397344 105397344 single base substitution C T missense_variant E49K 145G>A LICA-CN 3 105397344 105397344 single base substitution C T missense_variant E812K 2434G>A LICA-CN 3 105397344 105397344 single base substitution C T missense_variant E834K 2500G>A LICA-CN 3 105397344 105397344 single base substitution C T upstream_gene_variant LICA-FR 3 105371474 105371477 deletion of <=200bp CTAA - downstream_gene_variant LICA-FR 3 105387910 105387910 insertion of <=200bp - ATCC intron_variant LICA-FR 3 105391912 105391912 deletion of <=200bp T - exon_variant LICA-FR 3 105391912 105391912 deletion of <=200bp T - intron_variant LICA-FR 3 105394908 105394908 single base substitution T C downstream_gene_variant LICA-FR 3 105394908 105394908 single base substitution T C intron_variant LICA-FR 3 105394908 105394908 single base substitution T C upstream_gene_variant LICA-FR 3 105405347 105405347 single base substitution T C intron_variant LICA-FR 3 105405347 105405347 single base substitution T C upstream_gene_variant LICA-FR 3 105410529 105410529 single base substitution T C intron_variant LICA-FR 3 105414893 105414893 single base substitution T C intron_variant LICA-FR 3 105417104 105417104 single base substitution T A intron_variant LICA-FR 3 105421060 105421060 single base substitution C T missense_variant G613S 1837G>A LICA-FR 3 105421060 105421060 single base substitution C T missense_variant G635S 1903G>A LICA-FR 3 105421060 105421060 single base substitution C T upstream_gene_variant LICA-FR 3 105439357 105439357 single base substitution A T intron_variant LICA-FR 3 105452246 105452246 single base substitution C G intron_variant LICA-FR 3 105464885 105464885 insertion of <=200bp - A splice_region_variant LICA-FR 3 105473379 105473379 single base substitution G C intron_variant LICA-FR 3 105473408 105473408 single base substitution T A intron_variant LICA-FR 3 105479746 105479746 deletion of <=200bp A - intron_variant LICA-FR 3 105480520 105480520 single base substitution G T intron_variant LICA-FR 3 105500364 105500364 single base substitution T C intron_variant LICA-FR 3 105512676 105512676 single base substitution C T intron_variant LICA-FR 3 105531957 105531957 single base substitution T A intron_variant LICA-FR 3 105548352 105548352 single base substitution A G intron_variant LICA-FR 3 105569874 105569874 single base substitution T C downstream_gene_variant LICA-FR 3 105569874 105569874 single base substitution T C intron_variant LIHC-US 3 105459455 105459455 single base substitution C A 3_prime_UTR_variant LIHC-US 3 105459455 105459455 single base substitution C A missense_variant C289F 866G>T LIHC-US 3 105459455 105459455 single base substitution C A missense_variant C311F 932G>T LIHC-US 3 105586253 105586253 deletion of <=200bp C - splice_donor_variant LINC-JP 3 105373363 105373363 insertion of <=200bp - G downstream_gene_variant LINC-JP 3 105374142 105374142 single base substitution T C downstream_gene_variant LINC-JP 3 105375965 105375965 single base substitution T C 3_prime_UTR_variant LINC-JP 3 105375965 105375965 single base substitution T C downstream_gene_variant LINC-JP 3 105380333 105380333 single base substitution T C intron_variant LINC-JP 3 105381946 105381946 single base substitution T C intron_variant LINC-JP 3 105383315 105383315 single base substitution A T intron_variant LINC-JP 3 105388371 105388371 single base substitution G T intron_variant LINC-JP 3 105390789 105390789 single base substitution G A exon_variant LINC-JP 3 105390789 105390789 single base substitution G A intron_variant LINC-JP 3 105391331 105391331 single base substitution T C exon_variant LINC-JP 3 105391331 105391331 single base substitution T C intron_variant LINC-JP 3 105397489 105397489 single base substitution T A downstream_gene_variant LINC-JP 3 105397489 105397489 single base substitution T A intron_variant LINC-JP 3 105397489 105397489 single base substitution T A upstream_gene_variant LINC-JP 3 105406327 105406327 single base substitution C T intron_variant LINC-JP 3 105410169 105410169 single base substitution A G intron_variant LINC-JP 3 105414907 105414907 single base substitution T C intron_variant LINC-JP 3 105420848 105420848 insertion of <=200bp - A intron_variant LINC-JP 3 105421318 105421318 single base substitution G A intron_variant LINC-JP 3 105421318 105421318 single base substitution G A upstream_gene_variant LINC-JP 3 105421320 105421320 single base substitution G A intron_variant LINC-JP 3 105421320 105421320 single base substitution G A upstream_gene_variant LINC-JP 3 105448711 105448711 single base substitution A C intron_variant LINC-JP 3 105452126 105452126 single base substitution A G intron_variant LINC-JP 3 105458441 105458441 deletion of <=200bp T - intron_variant LINC-JP 3 105459373 105459373 single base substitution T A 3_prime_UTR_variant LINC-JP 3 105459373 105459373 single base substitution T A missense_variant L316F 948A>T LINC-JP 3 105459373 105459373 single base substitution T A missense_variant L338F 1014A>T LINC-JP 3 105477401 105477401 single base substitution A G intron_variant LINC-JP 3 105495236 105495236 single base substitution T C intron_variant LINC-JP 3 105495236 105495236 single base substitution T C splice_region_variant LINC-JP 3 105507563 105507563 single base substitution C A intron_variant LINC-JP 3 105508547 105508547 single base substitution T A intron_variant LINC-JP 3 105525340 105525340 single base substitution C A intron_variant LINC-JP 3 105532158 105532158 single base substitution T C intron_variant LINC-JP 3 105534544 105534544 single base substitution T C intron_variant LINC-JP 3 105547706 105547706 single base substitution T C intron_variant LINC-JP 3 105564284 105564284 single base substitution T C intron_variant LINC-JP 3 105579190 105579190 single base substitution G A intron_variant LINC-JP 3 105586373 105586373 single base substitution G A missense_variant P17S 49C>T LINC-JP 3 105586373 105586373 single base substitution G A missense_variant P39S 115C>T LIRI-JP 3 105369320 105369320 single base substitution G T downstream_gene_variant LIRI-JP 3 105371118 105371118 single base substitution G T downstream_gene_variant LIRI-JP 3 105371176 105371176 single base substitution G C downstream_gene_variant LIRI-JP 3 105371396 105371396 single base substitution G C downstream_gene_variant LIRI-JP 3 105372879 105372879 single base substitution T C downstream_gene_variant LIRI-JP 3 105373462 105373462 single base substitution T C downstream_gene_variant LIRI-JP 3 105373578 105373578 single base substitution A C downstream_gene_variant LIRI-JP 3 105374530 105374530 single base substitution C A 3_prime_UTR_variant LIRI-JP 3 105374530 105374530 single base substitution C A downstream_gene_variant LIRI-JP 3 105374957 105374957 single base substitution T G 3_prime_UTR_variant LIRI-JP 3 105374957 105374957 single base substitution T G downstream_gene_variant LIRI-JP 3 105375351 105375351 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 105375351 105375351 single base substitution T C downstream_gene_variant LIRI-JP 3 105375798 105375798 single base substitution C T 3_prime_UTR_variant LIRI-JP 3 105375798 105375798 single base substitution C T downstream_gene_variant LIRI-JP 3 105376097 105376097 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 105376097 105376097 single base substitution T C downstream_gene_variant LIRI-JP 3 105378420 105378420 single base substitution C T intron_variant LIRI-JP 3 105379188 105379188 single base substitution T A intron_variant LIRI-JP 3 105379300 105379300 single base substitution T C intron_variant LIRI-JP 3 105381539 105381539 single base substitution T C intron_variant LIRI-JP 3 105383517 105383517 single base substitution G A intron_variant LIRI-JP 3 105383993 105383993 single base substitution T C intron_variant LIRI-JP 3 105386238 105386241 deletion of <=200bp ATAG - intron_variant LIRI-JP 3 105387854 105387854 single base substitution T A intron_variant LIRI-JP 3 105392893 105392893 single base substitution C T intron_variant LIRI-JP 3 105392893 105392893 single base substitution C T upstream_gene_variant LIRI-JP 3 105392916 105392916 single base substitution T C intron_variant LIRI-JP 3 105392916 105392916 single base substitution T C upstream_gene_variant LIRI-JP 3 105394921 105394922 deletion of <=200bp AG - downstream_gene_variant LIRI-JP 3 105394921 105394922 deletion of <=200bp AG - intron_variant LIRI-JP 3 105394921 105394922 deletion of <=200bp AG - upstream_gene_variant LIRI-JP 3 105397213 105397213 single base substitution A T downstream_gene_variant LIRI-JP 3 105397213 105397213 single base substitution A T intron_variant LIRI-JP 3 105397213 105397213 single base substitution A T upstream_gene_variant LIRI-JP 3 105397221 105397221 single base substitution T G downstream_gene_variant LIRI-JP 3 105397221 105397221 single base substitution T G intron_variant LIRI-JP 3 105397221 105397221 single base substitution T G upstream_gene_variant LIRI-JP 3 105397375 105397375 deletion of <=200bp A - downstream_gene_variant LIRI-JP 3 105397375 105397375 deletion of <=200bp A - frameshift_variant P162 LIRI-JP 3 105397375 105397375 deletion of <=200bp A - frameshift_variant P38 LIRI-JP 3 105397375 105397375 deletion of <=200bp A - frameshift_variant P801 LIRI-JP 3 105397375 105397375 deletion of <=200bp A - frameshift_variant P823 LIRI-JP 3 105397375 105397375 deletion of <=200bp A - upstream_gene_variant LIRI-JP 3 105398289 105398289 single base substitution C T downstream_gene_variant LIRI-JP 3 105398289 105398289 single base substitution C T intron_variant LIRI-JP 3 105400527 105400527 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 105400527 105400527 single base substitution T C intron_variant LIRI-JP 3 105400584 105400584 single base substitution T A missense_variant L143F 429A>T LIRI-JP 3 105400584 105400584 single base substitution T A missense_variant L19F 57A>T LIRI-JP 3 105400584 105400584 single base substitution T A missense_variant L760F 2280A>T LIRI-JP 3 105400584 105400584 single base substitution T A missense_variant L782F 2346A>T LIRI-JP 3 105402223 105402223 single base substitution T G intron_variant LIRI-JP 3 105402223 105402223 single base substitution T G upstream_gene_variant LIRI-JP 3 105403249 105403249 single base substitution T G intron_variant LIRI-JP 3 105403249 105403249 single base substitution T G upstream_gene_variant LIRI-JP 3 105405707 105405707 single base substitution C A intron_variant LIRI-JP 3 105405707 105405707 single base substitution C A upstream_gene_variant LIRI-JP 3 105406299 105406299 single base substitution T C intron_variant LIRI-JP 3 105407203 105407203 single base substitution A T intron_variant LIRI-JP 3 105408127 105408127 single base substitution T A intron_variant LIRI-JP 3 105408151 105408151 single base substitution T C intron_variant LIRI-JP 3 105408954 105408957 deletion of <=200bp TATT - intron_variant LIRI-JP 3 105409470 105409470 single base substitution A G intron_variant LIRI-JP 3 105411412 105411412 single base substitution T C intron_variant LIRI-JP 3 105415015 105415015 single base substitution T C intron_variant LIRI-JP 3 105416291 105416291 single base substitution C T intron_variant LIRI-JP 3 105419164 105419164 single base substitution C T intron_variant LIRI-JP 3 105420991 105420991 single base substitution G A missense_variant P19S 55C>T LIRI-JP 3 105420991 105420991 single base substitution G A missense_variant P636S 1906C>T LIRI-JP 3 105420991 105420991 single base substitution G A missense_variant P658S 1972C>T LIRI-JP 3 105421462 105421462 single base substitution A C intron_variant LIRI-JP 3 105421462 105421462 single base substitution A C upstream_gene_variant LIRI-JP 3 105421876 105421876 single base substitution G T intron_variant LIRI-JP 3 105421876 105421876 single base substitution G T upstream_gene_variant LIRI-JP 3 105422392 105422392 single base substitution C T intron_variant LIRI-JP 3 105422392 105422392 single base substitution C T upstream_gene_variant LIRI-JP 3 105423695 105423695 single base substitution T C intron_variant LIRI-JP 3 105423695 105423695 single base substitution T C upstream_gene_variant LIRI-JP 3 105423700 105423700 single base substitution T G intron_variant LIRI-JP 3 105423700 105423700 single base substitution T G upstream_gene_variant LIRI-JP 3 105423716 105423716 single base substitution T C intron_variant LIRI-JP 3 105423716 105423716 single base substitution T C upstream_gene_variant LIRI-JP 3 105426556 105426556 single base substitution T A intron_variant LIRI-JP 3 105427936 105427936 single base substitution C A intron_variant LIRI-JP 3 105430503 105430505 deletion of <=200bp AGA - intron_variant LIRI-JP 3 105431272 105431272 single base substitution T A intron_variant LIRI-JP 3 105433980 105433980 single base substitution T C downstream_gene_variant LIRI-JP 3 105433980 105433980 single base substitution T C intron_variant LIRI-JP 3 105434784 105434784 single base substitution G T downstream_gene_variant LIRI-JP 3 105434784 105434784 single base substitution G T intron_variant LIRI-JP 3 105435053 105435053 single base substitution A G downstream_gene_variant LIRI-JP 3 105435053 105435053 single base substitution A G intron_variant LIRI-JP 3 105438998 105438998 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 105438998 105438998 single base substitution T C missense_variant R434G 1300A>G LIRI-JP 3 105438998 105438998 single base substitution T C missense_variant R456G 1366A>G LIRI-JP 3 105443994 105443994 single base substitution T C intron_variant LIRI-JP 3 105444174 105444174 single base substitution C T intron_variant LIRI-JP 3 105445195 105445195 single base substitution T C intron_variant LIRI-JP 3 105445764 105445764 single base substitution T C intron_variant LIRI-JP 3 105448103 105448103 single base substitution G C intron_variant LIRI-JP 3 105449879 105449879 single base substitution T C intron_variant LIRI-JP 3 105451813 105451813 single base substitution A G intron_variant LIRI-JP 3 105452337 105452337 single base substitution A G intron_variant LIRI-JP 3 105453207 105453207 single base substitution C G intron_variant LIRI-JP 3 105455000 105455000 single base substitution C T intron_variant LIRI-JP 3 105455370 105455370 single base substitution A G intron_variant LIRI-JP 3 105455896 105455896 single base substitution T A intron_variant LIRI-JP 3 105456025 105456025 single base substitution T G 3_prime_UTR_variant LIRI-JP 3 105456025 105456025 single base substitution T G missense_variant K354T 1061A>C LIRI-JP 3 105456025 105456025 single base substitution T G missense_variant K376T 1127A>C LIRI-JP 3 105456312 105456312 single base substitution T C intron_variant LIRI-JP 3 105456382 105456382 single base substitution T A intron_variant LIRI-JP 3 105456428 105456428 single base substitution T C intron_variant LIRI-JP 3 105457292 105457292 single base substitution A G intron_variant LIRI-JP 3 105457486 105457486 single base substitution A T intron_variant LIRI-JP 3 105459035 105459036 deletion of <=200bp AT - intron_variant LIRI-JP 3 105459203 105459203 single base substitution A C intron_variant LIRI-JP 3 105462862 105462863 deletion of <=200bp TA - intron_variant LIRI-JP 3 105463632 105463632 single base substitution G C intron_variant LIRI-JP 3 105463784 105463784 single base substitution A G intron_variant LIRI-JP 3 105465581 105465581 single base substitution G T intron_variant LIRI-JP 3 105465588 105465588 single base substitution T C intron_variant LIRI-JP 3 105465855 105465855 single base substitution G C intron_variant LIRI-JP 3 105466821 105466821 single base substitution T C intron_variant LIRI-JP 3 105466954 105466954 single base substitution A G intron_variant LIRI-JP 3 105467768 105467768 single base substitution C A intron_variant LIRI-JP 3 105470357 105470357 single base substitution G A synonymous_variant C197C 591C>T LIRI-JP 3 105470357 105470357 single base substitution G A synonymous_variant C224C 672C>T LIRI-JP 3 105470357 105470357 single base substitution G A synonymous_variant C246C 738C>T LIRI-JP 3 105472032 105472032 single base substitution G A intron_variant LIRI-JP 3 105472497 105472497 single base substitution A C intron_variant LIRI-JP 3 105474190 105474190 single base substitution C G intron_variant LIRI-JP 3 105474241 105474241 single base substitution T A intron_variant LIRI-JP 3 105475543 105475543 single base substitution T C intron_variant LIRI-JP 3 105478742 105478742 single base substitution A C intron_variant LIRI-JP 3 105479031 105479031 single base substitution T C intron_variant LIRI-JP 3 105479382 105479382 single base substitution T C intron_variant LIRI-JP 3 105479738 105479738 single base substitution T C intron_variant LIRI-JP 3 105483011 105483018 deletion of <=200bp GTTTAGAG - intron_variant LIRI-JP 3 105483294 105483294 single base substitution G A intron_variant LIRI-JP 3 105485208 105485208 single base substitution G A intron_variant LIRI-JP 3 105486184 105486184 single base substitution A G intron_variant LIRI-JP 3 105487914 105487914 single base substitution T G intron_variant LIRI-JP 3 105488507 105488507 single base substitution T C intron_variant LIRI-JP 3 105491003 105491003 single base substitution A T intron_variant LIRI-JP 3 105491005 105491005 single base substitution T C intron_variant LIRI-JP 3 105491903 105491903 single base substitution T C intron_variant LIRI-JP 3 105493841 105493841 single base substitution A G intron_variant LIRI-JP 3 105495210 105495210 single base substitution T C intron_variant LIRI-JP 3 105495211 105495211 single base substitution C T intron_variant LIRI-JP 3 105495251 105495251 single base substitution A C intron_variant LIRI-JP 3 105495251 105495251 single base substitution A C missense_variant F185L 555T>G LIRI-JP 3 105495251 105495251 single base substitution A C missense_variant F207L 621T>G LIRI-JP 3 105497645 105497645 single base substitution T C intron_variant LIRI-JP 3 105497931 105497931 single base substitution T C intron_variant LIRI-JP 3 105499954 105499954 single base substitution G C intron_variant LIRI-JP 3 105501246 105501246 single base substitution T G intron_variant LIRI-JP 3 105501306 105501306 single base substitution C G intron_variant LIRI-JP 3 105503660 105503660 single base substitution C T intron_variant LIRI-JP 3 105504568 105504568 single base substitution T C intron_variant LIRI-JP 3 105506340 105506340 single base substitution G T intron_variant LIRI-JP 3 105507113 105507113 single base substitution T C intron_variant LIRI-JP 3 105507393 105507393 single base substitution G T intron_variant LIRI-JP 3 105507406 105507406 single base substitution A C intron_variant LIRI-JP 3 105507686 105507686 single base substitution A C intron_variant LIRI-JP 3 105508062 105508062 single base substitution C A intron_variant LIRI-JP 3 105508551 105508551 single base substitution T G intron_variant LIRI-JP 3 105510119 105510119 single base substitution G T intron_variant LIRI-JP 3 105510145 105510145 single base substitution G A intron_variant LIRI-JP 3 105511615 105511615 single base substitution G T intron_variant LIRI-JP 3 105513051 105513051 single base substitution T C intron_variant LIRI-JP 3 105513994 105513994 single base substitution G T intron_variant LIRI-JP 3 105514394 105514394 single base substitution C A intron_variant LIRI-JP 3 105519630 105519630 single base substitution T C intron_variant LIRI-JP 3 105520729 105520729 single base substitution T C intron_variant LIRI-JP 3 105521080 105521080 single base substitution T C intron_variant LIRI-JP 3 105521342 105521342 single base substitution C T intron_variant LIRI-JP 3 105521652 105521652 single base substitution T C intron_variant LIRI-JP 3 105521746 105521746 single base substitution T A intron_variant LIRI-JP 3 105522627 105522627 single base substitution T C intron_variant LIRI-JP 3 105522758 105522758 single base substitution A T intron_variant LIRI-JP 3 105523090 105523090 single base substitution C T intron_variant LIRI-JP 3 105523516 105523516 single base substitution A T intron_variant LIRI-JP 3 105528085 105528085 single base substitution T C intron_variant LIRI-JP 3 105528560 105528560 single base substitution T C intron_variant LIRI-JP 3 105528742 105528742 single base substitution A G intron_variant LIRI-JP 3 105529329 105529329 single base substitution A T intron_variant LIRI-JP 3 105529660 105529660 single base substitution A G intron_variant LIRI-JP 3 105529927 105529927 single base substitution A C intron_variant LIRI-JP 3 105531858 105531858 single base substitution G A intron_variant LIRI-JP 3 105533230 105533230 single base substitution T C intron_variant LIRI-JP 3 105534580 105534580 single base substitution A G intron_variant LIRI-JP 3 105534930 105534930 single base substitution G C intron_variant LIRI-JP 3 105535093 105535093 single base substitution T C intron_variant LIRI-JP 3 105535717 105535717 single base substitution C G intron_variant LIRI-JP 3 105536930 105536930 single base substitution T C intron_variant LIRI-JP 3 105538768 105538768 single base substitution C G intron_variant LIRI-JP 3 105539702 105539702 single base substitution T C intron_variant LIRI-JP 3 105541181 105541181 single base substitution A G intron_variant LIRI-JP 3 105542054 105542054 single base substitution C G intron_variant LIRI-JP 3 105543242 105543242 single base substitution C G intron_variant LIRI-JP 3 105544156 105544156 single base substitution C A intron_variant LIRI-JP 3 105544157 105544157 single base substitution C A intron_variant LIRI-JP 3 105545361 105545361 single base substitution T C intron_variant LIRI-JP 3 105545802 105545802 single base substitution C T intron_variant LIRI-JP 3 105545950 105545950 single base substitution C T intron_variant LIRI-JP 3 105548026 105548026 single base substitution T C intron_variant LIRI-JP 3 105548653 105548653 single base substitution T C intron_variant LIRI-JP 3 105550999 105550999 single base substitution T C intron_variant LIRI-JP 3 105551990 105551990 single base substitution T C intron_variant LIRI-JP 3 105552275 105552275 single base substitution A G intron_variant LIRI-JP 3 105555299 105555299 single base substitution T C intron_variant LIRI-JP 3 105555593 105555593 single base substitution G C intron_variant LIRI-JP 3 105559889 105559889 single base substitution G A intron_variant LIRI-JP 3 105560836 105560836 single base substitution A T intron_variant LIRI-JP 3 105562036 105562036 single base substitution C A intron_variant LIRI-JP 3 105562299 105562299 single base substitution T C intron_variant LIRI-JP 3 105563115 105563115 single base substitution T C intron_variant LIRI-JP 3 105567292 105567292 single base substitution T C downstream_gene_variant LIRI-JP 3 105567292 105567292 single base substitution T C intron_variant LIRI-JP 3 105568011 105568011 single base substitution T C downstream_gene_variant LIRI-JP 3 105568011 105568011 single base substitution T C intron_variant LIRI-JP 3 105569943 105569943 single base substitution T C downstream_gene_variant LIRI-JP 3 105569943 105569943 single base substitution T C intron_variant LIRI-JP 3 105571443 105571443 single base substitution A T downstream_gene_variant LIRI-JP 3 105571443 105571443 single base substitution A T intron_variant LIRI-JP 3 105571778 105571778 single base substitution C A downstream_gene_variant LIRI-JP 3 105571778 105571778 single base substitution C A intron_variant LIRI-JP 3 105574309 105574309 single base substitution A C intron_variant LIRI-JP 3 105576164 105576164 single base substitution T G intron_variant LIRI-JP 3 105576865 105576865 single base substitution T C intron_variant LIRI-JP 3 105576882 105576882 single base substitution A G intron_variant LIRI-JP 3 105578791 105578791 single base substitution G A intron_variant LIRI-JP 3 105578998 105578998 single base substitution T C intron_variant LIRI-JP 3 105580252 105580252 single base substitution T C intron_variant LIRI-JP 3 105581893 105581893 single base substitution T C intron_variant LIRI-JP 3 105582445 105582445 single base substitution T C intron_variant LIRI-JP 3 105582458 105582458 single base substitution C T intron_variant LIRI-JP 3 105585570 105585570 single base substitution T C intron_variant LIRI-JP 3 105585808 105585808 single base substitution C A intron_variant LIRI-JP 3 105586385 105586385 single base substitution G C missense_variant R13G 37C>G LIRI-JP 3 105586385 105586385 single base substitution G C missense_variant R35G 103C>G LIRI-JP 3 105587125 105587127 deletion of <=200bp AGG - intron_variant LIRI-JP 3 105588654 105588654 single base substitution A G upstream_gene_variant LIRI-JP 3 105589016 105589016 single base substitution T G upstream_gene_variant LIRI-JP 3 105589598 105589598 single base substitution G A upstream_gene_variant LIRI-JP 3 105591921 105591921 single base substitution A T upstream_gene_variant LIRI-JP 3 105592383 105592383 single base substitution A G upstream_gene_variant LIRI-JP 3 105593272 105593272 single base substitution A G upstream_gene_variant LUSC-KR 3 105369759 105369759 single base substitution C G downstream_gene_variant LUSC-KR 3 105371309 105371309 single base substitution T A downstream_gene_variant LUSC-KR 3 105371585 105371585 single base substitution C T downstream_gene_variant LUSC-KR 3 105373413 105373413 single base substitution G A downstream_gene_variant LUSC-KR 3 105374357 105374357 single base substitution G C 3_prime_UTR_variant LUSC-KR 3 105374357 105374357 single base substitution G C downstream_gene_variant LUSC-KR 3 105383360 105383360 single base substitution C T intron_variant LUSC-KR 3 105384023 105384023 single base substitution G T intron_variant LUSC-KR 3 105384153 105384153 single base substitution G T intron_variant LUSC-KR 3 105384651 105384651 single base substitution G A intron_variant LUSC-KR 3 105391270 105391270 single base substitution C A exon_variant LUSC-KR 3 105391270 105391270 single base substitution C A intron_variant LUSC-KR 3 105393647 105393647 single base substitution T A intron_variant LUSC-KR 3 105393647 105393647 single base substitution T A upstream_gene_variant LUSC-KR 3 105394055 105394055 single base substitution T A intron_variant LUSC-KR 3 105394055 105394055 single base substitution T A upstream_gene_variant LUSC-KR 3 105394712 105394712 single base substitution G A intron_variant LUSC-KR 3 105394712 105394712 single base substitution G A upstream_gene_variant LUSC-KR 3 105395837 105395837 single base substitution C T downstream_gene_variant LUSC-KR 3 105395837 105395837 single base substitution C T intron_variant LUSC-KR 3 105395837 105395837 single base substitution C T upstream_gene_variant LUSC-KR 3 105396084 105396084 single base substitution C G downstream_gene_variant LUSC-KR 3 105396084 105396084 single base substitution C G intron_variant LUSC-KR 3 105396084 105396084 single base substitution C G upstream_gene_variant LUSC-KR 3 105399343 105399343 single base substitution T C downstream_gene_variant LUSC-KR 3 105399343 105399343 single base substitution T C intron_variant LUSC-KR 3 105402706 105402706 single base substitution T G intron_variant LUSC-KR 3 105402706 105402706 single base substitution T G upstream_gene_variant LUSC-KR 3 105403110 105403110 single base substitution C T intron_variant LUSC-KR 3 105403110 105403110 single base substitution C T upstream_gene_variant LUSC-KR 3 105404096 105404096 single base substitution A G intron_variant LUSC-KR 3 105404096 105404096 single base substitution A G upstream_gene_variant LUSC-KR 3 105406289 105406289 single base substitution T A intron_variant LUSC-KR 3 105417751 105417751 single base substitution T C intron_variant LUSC-KR 3 105422734 105422734 single base substitution A G intron_variant LUSC-KR 3 105422734 105422734 single base substitution A G upstream_gene_variant LUSC-KR 3 105429561 105429561 single base substitution C G intron_variant LUSC-KR 3 105432686 105432686 single base substitution A C intron_variant LUSC-KR 3 105432950 105432950 single base substitution T A intron_variant LUSC-KR 3 105439910 105439910 single base substitution C A intron_variant LUSC-KR 3 105443200 105443200 single base substitution C A intron_variant LUSC-KR 3 105444842 105444842 single base substitution C A intron_variant LUSC-KR 3 105446104 105446104 single base substitution T C intron_variant LUSC-KR 3 105447990 105447990 single base substitution C A intron_variant LUSC-KR 3 105447991 105447991 single base substitution C A intron_variant LUSC-KR 3 105449802 105449802 single base substitution T C intron_variant LUSC-KR 3 105451055 105451055 single base substitution C A intron_variant LUSC-KR 3 105456285 105456285 single base substitution T C intron_variant LUSC-KR 3 105458155 105458155 single base substitution T A intron_variant LUSC-KR 3 105458343 105458343 single base substitution G A intron_variant LUSC-KR 3 105459861 105459861 single base substitution C A intron_variant LUSC-KR 3 105462285 105462285 single base substitution C A intron_variant LUSC-KR 3 105465167 105465167 single base substitution G T intron_variant LUSC-KR 3 105468779 105468779 single base substitution C T intron_variant LUSC-KR 3 105470286 105470286 single base substitution C A intron_variant LUSC-KR 3 105470931 105470931 single base substitution G A intron_variant LUSC-KR 3 105479822 105479822 single base substitution C A intron_variant LUSC-KR 3 105493881 105493881 single base substitution T A intron_variant LUSC-KR 3 105501432 105501432 single base substitution T C intron_variant LUSC-KR 3 105505785 105505785 single base substitution G A intron_variant LUSC-KR 3 105511057 105511057 single base substitution C A intron_variant LUSC-KR 3 105513166 105513166 single base substitution T G intron_variant LUSC-KR 3 105513779 105513779 single base substitution G T intron_variant LUSC-KR 3 105514002 105514002 single base substitution C A intron_variant LUSC-KR 3 105515970 105515970 single base substitution C A intron_variant LUSC-KR 3 105517219 105517219 single base substitution G A intron_variant LUSC-KR 3 105520360 105520360 single base substitution G A intron_variant LUSC-KR 3 105523192 105523192 single base substitution G A intron_variant LUSC-KR 3 105527517 105527517 single base substitution T C intron_variant LUSC-KR 3 105529490 105529490 single base substitution C A intron_variant LUSC-KR 3 105532120 105532120 single base substitution C T intron_variant LUSC-KR 3 105534112 105534112 single base substitution G A intron_variant LUSC-KR 3 105537983 105537983 single base substitution G A intron_variant LUSC-KR 3 105540202 105540202 single base substitution C T intron_variant LUSC-KR 3 105541022 105541022 single base substitution G T intron_variant LUSC-KR 3 105542550 105542550 single base substitution G C intron_variant LUSC-KR 3 105543256 105543256 single base substitution C G intron_variant LUSC-KR 3 105544256 105544256 single base substitution G A intron_variant LUSC-KR 3 105545801 105545801 single base substitution G T intron_variant LUSC-KR 3 105559490 105559490 single base substitution T A intron_variant LUSC-KR 3 105562979 105562979 single base substitution C A intron_variant LUSC-KR 3 105563828 105563828 single base substitution T G intron_variant LUSC-KR 3 105566559 105566559 single base substitution T C intron_variant LUSC-KR 3 105573067 105573067 single base substitution T C intron_variant LUSC-KR 3 105577139 105577139 single base substitution T C intron_variant LUSC-KR 3 105581665 105581665 single base substitution C T intron_variant LUSC-KR 3 105582862 105582862 single base substitution T C intron_variant LUSC-KR 3 105593305 105593305 single base substitution T C upstream_gene_variant LUSC-US 3 105389121 105389121 single base substitution G C exon_variant LUSC-US 3 105389121 105389121 single base substitution G C missense_variant T221S 662C>G LUSC-US 3 105389121 105389121 single base substitution G C missense_variant T860S 2579C>G LUSC-US 3 105389121 105389121 single base substitution G C missense_variant T882S 2645C>G LUSC-US 3 105389121 105389121 single base substitution G C missense_variant T97S 290C>G LUSC-US 3 105421219 105421219 single base substitution C T missense_variant E560K 1678G>A LUSC-US 3 105421219 105421219 single base substitution C T missense_variant E582K 1744G>A LUSC-US 3 105421219 105421219 single base substitution C T upstream_gene_variant LUSC-US 3 105438956 105438956 single base substitution C A 3_prime_UTR_variant LUSC-US 3 105438956 105438956 single base substitution C A missense_variant D448Y 1342G>T LUSC-US 3 105438956 105438956 single base substitution C A missense_variant D470Y 1408G>T LUSC-US 3 105439079 105439079 single base substitution C A 3_prime_UTR_variant LUSC-US 3 105439079 105439079 single base substitution C A missense_variant G407C 1219G>T LUSC-US 3 105439079 105439079 single base substitution C A missense_variant G429C 1285G>T LUSC-US 3 105495385 105495385 single base substitution G A intron_variant LUSC-US 3 105495385 105495385 single base substitution G A stop_gained R141* 421C>T LUSC-US 3 105495385 105495385 single base substitution G A stop_gained R163* 487C>T LUSC-US 3 105572277 105572277 single base substitution C T missense_variant E134K 400G>A LUSC-US 3 105572277 105572277 single base substitution C T missense_variant E156K 466G>A LUSC-US 3 105586391 105586391 single base substitution C G missense_variant G11R 31G>C LUSC-US 3 105586391 105586391 single base substitution C G missense_variant G33R 97G>C MALY-DE 3 105372815 105372815 single base substitution A G downstream_gene_variant MALY-DE 3 105376332 105376332 deletion of <=200bp T - 3_prime_UTR_variant MALY-DE 3 105376332 105376332 deletion of <=200bp T - downstream_gene_variant MALY-DE 3 105383778 105383778 insertion of <=200bp - T intron_variant MALY-DE 3 105387233 105387233 single base substitution T A intron_variant MALY-DE 3 105391194 105391194 single base substitution T C exon_variant MALY-DE 3 105391194 105391194 single base substitution T C intron_variant MALY-DE 3 105391431 105391431 single base substitution T A exon_variant MALY-DE 3 105391431 105391431 single base substitution T A intron_variant MALY-DE 3 105393951 105393951 single base substitution A G intron_variant MALY-DE 3 105393951 105393951 single base substitution A G upstream_gene_variant MALY-DE 3 105394862 105394862 single base substitution A G downstream_gene_variant MALY-DE 3 105394862 105394862 single base substitution A G intron_variant MALY-DE 3 105394862 105394862 single base substitution A G upstream_gene_variant MALY-DE 3 105396976 105396976 single base substitution A T downstream_gene_variant MALY-DE 3 105396976 105396976 single base substitution A T intron_variant MALY-DE 3 105396976 105396976 single base substitution A T upstream_gene_variant MALY-DE 3 105399233 105399233 single base substitution G A downstream_gene_variant MALY-DE 3 105399233 105399233 single base substitution G A intron_variant MALY-DE 3 105399378 105399378 single base substitution A G downstream_gene_variant MALY-DE 3 105399378 105399378 single base substitution A G intron_variant MALY-DE 3 105402036 105402036 single base substitution T A intron_variant MALY-DE 3 105402036 105402036 single base substitution T A upstream_gene_variant MALY-DE 3 105402454 105402454 insertion of <=200bp - T intron_variant MALY-DE 3 105402454 105402454 insertion of <=200bp - T upstream_gene_variant MALY-DE 3 105402892 105402892 single base substitution G C intron_variant MALY-DE 3 105402892 105402892 single base substitution G C upstream_gene_variant MALY-DE 3 105406058 105406058 single base substitution A G intron_variant MALY-DE 3 105406692 105406692 single base substitution A G intron_variant MALY-DE 3 105406824 105406824 insertion of <=200bp - A intron_variant MALY-DE 3 105407879 105407879 single base substitution C G intron_variant MALY-DE 3 105407881 105407881 single base substitution T A intron_variant MALY-DE 3 105409623 105409623 single base substitution G A intron_variant MALY-DE 3 105414274 105414274 single base substitution A T intron_variant MALY-DE 3 105414588 105414588 single base substitution T A intron_variant MALY-DE 3 105418903 105418903 single base substitution T A intron_variant MALY-DE 3 105421068 105421068 single base substitution A G missense_variant L610P 1829T>C MALY-DE 3 105421068 105421068 single base substitution A G missense_variant L632P 1895T>C MALY-DE 3 105421068 105421068 single base substitution A G upstream_gene_variant MALY-DE 3 105423388 105423388 insertion of <=200bp - T intron_variant MALY-DE 3 105423388 105423388 insertion of <=200bp - T upstream_gene_variant MALY-DE 3 105425340 105425340 single base substitution A C intron_variant MALY-DE 3 105425340 105425340 single base substitution A C upstream_gene_variant MALY-DE 3 105425507 105425507 single base substitution T C intron_variant MALY-DE 3 105425507 105425507 single base substitution T C upstream_gene_variant MALY-DE 3 105438086 105438086 single base substitution T C downstream_gene_variant MALY-DE 3 105438086 105438086 single base substitution T C intron_variant MALY-DE 3 105442100 105442100 single base substitution T C intron_variant MALY-DE 3 105442109 105442109 single base substitution A G intron_variant MALY-DE 3 105443117 105443117 single base substitution T A intron_variant MALY-DE 3 105447070 105447070 single base substitution C T intron_variant MALY-DE 3 105450581 105450581 single base substitution G A intron_variant MALY-DE 3 105451024 105451024 single base substitution T C intron_variant MALY-DE 3 105452893 105452893 single base substitution C T 3_prime_UTR_variant MALY-DE 3 105452893 105452893 single base substitution C T missense_variant C388Y 1163G>A MALY-DE 3 105452893 105452893 single base substitution C T missense_variant C410Y 1229G>A MALY-DE 3 105452935 105452935 single base substitution T G 3_prime_UTR_variant MALY-DE 3 105452935 105452935 single base substitution T G missense_variant K374T 1121A>C MALY-DE 3 105452935 105452935 single base substitution T G missense_variant K396T 1187A>C MALY-DE 3 105453019 105453019 single base substitution A C intron_variant MALY-DE 3 105459041 105459041 single base substitution A G intron_variant MALY-DE 3 105462352 105462352 single base substitution A G intron_variant MALY-DE 3 105463358 105463358 single base substitution C A intron_variant MALY-DE 3 105466399 105466399 single base substitution G A intron_variant MALY-DE 3 105468637 105468637 insertion of <=200bp - A intron_variant MALY-DE 3 105476332 105476332 single base substitution C A intron_variant MALY-DE 3 105477225 105477225 insertion of <=200bp - TAAAAAG intron_variant MALY-DE 3 105477226 105477226 single base substitution A G intron_variant MALY-DE 3 105478000 105478000 single base substitution C G intron_variant MALY-DE 3 105481360 105481360 single base substitution A T intron_variant MALY-DE 3 105481542 105481542 single base substitution G C intron_variant MALY-DE 3 105482132 105482132 single base substitution T C intron_variant MALY-DE 3 105486301 105486301 single base substitution A G intron_variant MALY-DE 3 105488661 105488661 single base substitution A C intron_variant MALY-DE 3 105488805 105488805 single base substitution A C intron_variant MALY-DE 3 105489046 105489046 single base substitution G T intron_variant MALY-DE 3 105491904 105491904 single base substitution C T intron_variant MALY-DE 3 105494467 105494467 single base substitution T G intron_variant MALY-DE 3 105498010 105498010 single base substitution T C intron_variant MALY-DE 3 105508839 105508839 single base substitution C G intron_variant MALY-DE 3 105522405 105522405 single base substitution G A intron_variant MALY-DE 3 105525381 105525381 single base substitution A T intron_variant MALY-DE 3 105525846 105525846 single base substitution C T intron_variant MALY-DE 3 105527639 105527639 single base substitution G A intron_variant MALY-DE 3 105530564 105530564 single base substitution T C intron_variant MALY-DE 3 105534848 105534848 single base substitution G C intron_variant MALY-DE 3 105537513 105537513 single base substitution G A intron_variant MALY-DE 3 105541403 105541403 deletion of <=200bp A - intron_variant MALY-DE 3 105543093 105543093 single base substitution G A intron_variant MALY-DE 3 105544853 105544853 single base substitution C A intron_variant MALY-DE 3 105545144 105545151 deletion of <=200bp AACCATAT - intron_variant MALY-DE 3 105546337 105546338 deletion of <=200bp TG - intron_variant MALY-DE 3 105552323 105552323 deletion of <=200bp T - intron_variant MALY-DE 3 105554797 105554800 deletion of <=200bp TAAA - intron_variant MALY-DE 3 105555097 105555097 single base substitution T C intron_variant MALY-DE 3 105555428 105555428 single base substitution G A intron_variant MALY-DE 3 105565553 105565553 single base substitution C T intron_variant MALY-DE 3 105568898 105568898 insertion of <=200bp - CATTAATTA downstream_gene_variant MALY-DE 3 105568898 105568898 insertion of <=200bp - CATTAATTA intron_variant MALY-DE 3 105570113 105570113 single base substitution G T downstream_gene_variant MALY-DE 3 105570113 105570113 single base substitution G T intron_variant MALY-DE 3 105580529 105580530 deletion of <=200bp AC - intron_variant MALY-DE 3 105587292 105587292 single base substitution A T intron_variant MALY-DE 3 105589064 105589064 single base substitution C G upstream_gene_variant MALY-DE 3 105589098 105589098 single base substitution T G upstream_gene_variant MALY-DE 3 105589109 105589109 deletion of <=200bp T - upstream_gene_variant MALY-DE 3 105589128 105589128 single base substitution T G upstream_gene_variant MELA-AU 3 105369306 105369306 single base substitution G A downstream_gene_variant MELA-AU 3 105369385 105369385 single base substitution C T downstream_gene_variant MELA-AU 3 105369546 105369546 single base substitution C T downstream_gene_variant MELA-AU 3 105369822 105369822 single base substitution G A downstream_gene_variant MELA-AU 3 105370158 105370158 single base substitution T C downstream_gene_variant MELA-AU 3 105370189 105370189 single base substitution G A downstream_gene_variant MELA-AU 3 105370229 105370229 single base substitution G A downstream_gene_variant MELA-AU 3 105370256 105370256 single base substitution G A downstream_gene_variant MELA-AU 3 105370350 105370350 single base substitution G A downstream_gene_variant MELA-AU 3 105370525 105370525 single base substitution C A downstream_gene_variant MELA-AU 3 105370565 105370565 single base substitution G A downstream_gene_variant MELA-AU 3 105370821 105370821 single base substitution C T downstream_gene_variant MELA-AU 3 105371037 105371037 single base substitution C T downstream_gene_variant MELA-AU 3 105371093 105371093 single base substitution G A downstream_gene_variant MELA-AU 3 105371177 105371177 single base substitution G A downstream_gene_variant MELA-AU 3 105371240 105371240 single base substitution G A downstream_gene_variant MELA-AU 3 105371349 105371349 single base substitution A C downstream_gene_variant MELA-AU 3 105371377 105371377 single base substitution G A downstream_gene_variant MELA-AU 3 105371396 105371396 single base substitution G A downstream_gene_variant MELA-AU 3 105371457 105371457 single base substitution G A downstream_gene_variant MELA-AU 3 105371818 105371818 single base substitution T C downstream_gene_variant MELA-AU 3 105372373 105372373 single base substitution G A downstream_gene_variant MELA-AU 3 105372374 105372374 single base substitution G A downstream_gene_variant MELA-AU 3 105372389 105372389 single base substitution C T downstream_gene_variant MELA-AU 3 105372482 105372482 insertion of <=200bp - T downstream_gene_variant MELA-AU 3 105372675 105372675 single base substitution G A downstream_gene_variant MELA-AU 3 105372786 105372786 single base substitution G A downstream_gene_variant MELA-AU 3 105373231 105373231 single base substitution G A downstream_gene_variant MELA-AU 3 105373367 105373367 single base substitution G A downstream_gene_variant MELA-AU 3 105373388 105373388 single base substitution G A downstream_gene_variant MELA-AU 3 105373444 105373444 single base substitution T C downstream_gene_variant MELA-AU 3 105373570 105373570 single base substitution G A downstream_gene_variant MELA-AU 3 105373770 105373770 single base substitution G A downstream_gene_variant MELA-AU 3 105374071 105374071 single base substitution G A downstream_gene_variant MELA-AU 3 105374281 105374281 single base substitution G A downstream_gene_variant MELA-AU 3 105374528 105374528 single base substitution C T 3_prime_UTR_variant MELA-AU 3 105374528 105374528 single base substitution C T downstream_gene_variant MELA-AU 3 105374678 105374678 single base substitution A C 3_prime_UTR_variant MELA-AU 3 105374678 105374678 single base substitution A C downstream_gene_variant MELA-AU 3 105374717 105374717 single base substitution G A 3_prime_UTR_variant MELA-AU 3 105374717 105374717 single base substitution G A downstream_gene_variant MELA-AU 3 105375165 105375165 single base substitution G A 3_prime_UTR_variant MELA-AU 3 105375165 105375165 single base substitution G A downstream_gene_variant MELA-AU 3 105375460 105375460 single base substitution C A 3_prime_UTR_variant MELA-AU 3 105375460 105375460 single base substitution C A downstream_gene_variant MELA-AU 3 105375551 105375551 single base substitution A G 3_prime_UTR_variant MELA-AU 3 105375551 105375551 single base substitution A G downstream_gene_variant MELA-AU 3 105376113 105376113 single base substitution C T 3_prime_UTR_variant MELA-AU 3 105376113 105376113 single base substitution C T downstream_gene_variant MELA-AU 3 105376336 105376336 single base substitution G A 3_prime_UTR_variant MELA-AU 3 105376336 105376336 single base substitution G A downstream_gene_variant MELA-AU 3 105376863 105376863 single base substitution A G 3_prime_UTR_variant MELA-AU 3 105376863 105376863 single base substitution A G downstream_gene_variant MELA-AU 3 105376956 105376956 single base substitution G A 3_prime_UTR_variant MELA-AU 3 105376956 105376956 single base substitution G A downstream_gene_variant MELA-AU 3 105377309 105377309 single base substitution G A 3_prime_UTR_variant MELA-AU 3 105377309 105377309 single base substitution G A exon_variant MELA-AU 3 105377641 105377641 single base substitution G A 3_prime_UTR_variant MELA-AU 3 105377641 105377641 single base substitution G A exon_variant MELA-AU 3 105377688 105377688 single base substitution G A 3_prime_UTR_variant MELA-AU 3 105377688 105377688 single base substitution G A exon_variant MELA-AU 3 105377732 105377732 single base substitution G A 3_prime_UTR_variant MELA-AU 3 105377732 105377732 single base substitution G A exon_variant MELA-AU 3 105378118 105378118 single base substitution A G intron_variant MELA-AU 3 105378237 105378237 single base substitution T A intron_variant MELA-AU 3 105378718 105378718 single base substitution G A intron_variant MELA-AU 3 105378768 105378769 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 105379306 105379306 single base substitution G A intron_variant MELA-AU 3 105379487 105379487 single base substitution G A intron_variant MELA-AU 3 105380021 105380021 single base substitution G A intron_variant MELA-AU 3 105380747 105380747 single base substitution G A intron_variant MELA-AU 3 105380901 105380901 single base substitution G A intron_variant MELA-AU 3 105380932 105380932 single base substitution G A intron_variant MELA-AU 3 105381093 105381093 single base substitution G T intron_variant MELA-AU 3 105381692 105381692 single base substitution G A intron_variant MELA-AU 3 105381740 105381740 single base substitution A T intron_variant MELA-AU 3 105381946 105381946 single base substitution T C intron_variant MELA-AU 3 105382028 105382028 single base substitution T C intron_variant MELA-AU 3 105382096 105382096 single base substitution G A intron_variant MELA-AU 3 105382597 105382597 single base substitution C T intron_variant MELA-AU 3 105382603 105382603 single base substitution G A intron_variant MELA-AU 3 105382661 105382661 single base substitution G A intron_variant MELA-AU 3 105382931 105382931 single base substitution G A intron_variant MELA-AU 3 105383143 105383144 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 3 105383572 105383572 single base substitution G A intron_variant MELA-AU 3 105383610 105383610 single base substitution G A intron_variant MELA-AU 3 105383618 105383618 single base substitution G A intron_variant MELA-AU 3 105383621 105383621 single base substitution A T intron_variant MELA-AU 3 105384217 105384217 single base substitution G A intron_variant MELA-AU 3 105384320 105384320 single base substitution C T intron_variant MELA-AU 3 105384639 105384639 single base substitution C T intron_variant MELA-AU 3 105384950 105384950 single base substitution G A intron_variant MELA-AU 3 105384989 105384989 single base substitution G A intron_variant MELA-AU 3 105385031 105385031 single base substitution C T intron_variant MELA-AU 3 105385358 105385358 single base substitution C T intron_variant MELA-AU 3 105385393 105385393 single base substitution G A intron_variant MELA-AU 3 105385656 105385656 single base substitution A G intron_variant MELA-AU 3 105385805 105385805 single base substitution A G intron_variant MELA-AU 3 105385828 105385828 single base substitution G A intron_variant MELA-AU 3 105386451 105386451 single base substitution T A intron_variant MELA-AU 3 105386540 105386540 single base substitution G A intron_variant MELA-AU 3 105386904 105386904 single base substitution G A intron_variant MELA-AU 3 105387133 105387133 single base substitution G A intron_variant MELA-AU 3 105387692 105387692 single base substitution G A intron_variant MELA-AU 3 105388125 105388125 single base substitution G A intron_variant MELA-AU 3 105388423 105388423 single base substitution G A intron_variant MELA-AU 3 105388463 105388463 single base substitution A C intron_variant MELA-AU 3 105388703 105388703 single base substitution G A intron_variant MELA-AU 3 105389289 105389289 single base substitution C T exon_variant MELA-AU 3 105389289 105389289 single base substitution C T intron_variant MELA-AU 3 105389336 105389336 deletion of <=200bp T - exon_variant MELA-AU 3 105389336 105389336 deletion of <=200bp T - intron_variant MELA-AU 3 105389676 105389676 single base substitution G A exon_variant MELA-AU 3 105389676 105389676 single base substitution G A intron_variant MELA-AU 3 105389910 105389910 single base substitution G A exon_variant MELA-AU 3 105389910 105389910 single base substitution G A intron_variant MELA-AU 3 105391572 105391572 single base substitution G A exon_variant MELA-AU 3 105391572 105391572 single base substitution G A intron_variant MELA-AU 3 105391902 105391902 single base substitution G A exon_variant MELA-AU 3 105391902 105391902 single base substitution G A intron_variant MELA-AU 3 105391910 105391910 single base substitution G A exon_variant MELA-AU 3 105391910 105391910 single base substitution G A intron_variant MELA-AU 3 105392075 105392076 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 3 105392075 105392076 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 105392152 105392152 single base substitution A G exon_variant MELA-AU 3 105392152 105392152 single base substitution A G intron_variant MELA-AU 3 105392326 105392326 single base substitution C T exon_variant MELA-AU 3 105392326 105392326 single base substitution C T intron_variant MELA-AU 3 105393344 105393344 single base substitution C T intron_variant MELA-AU 3 105393344 105393344 single base substitution C T upstream_gene_variant MELA-AU 3 105393537 105393537 single base substitution G A intron_variant MELA-AU 3 105393537 105393537 single base substitution G A upstream_gene_variant MELA-AU 3 105393800 105393800 single base substitution G A intron_variant MELA-AU 3 105393800 105393800 single base substitution G A upstream_gene_variant MELA-AU 3 105393940 105393940 single base substitution A G intron_variant MELA-AU 3 105393940 105393940 single base substitution A G upstream_gene_variant MELA-AU 3 105394089 105394089 single base substitution G A intron_variant MELA-AU 3 105394089 105394089 single base substitution G A upstream_gene_variant MELA-AU 3 105394220 105394220 single base substitution G A intron_variant MELA-AU 3 105394220 105394220 single base substitution G A upstream_gene_variant MELA-AU 3 105394625 105394625 single base substitution G A intron_variant MELA-AU 3 105394625 105394625 single base substitution G A upstream_gene_variant MELA-AU 3 105394809 105394809 single base substitution G A intron_variant MELA-AU 3 105394809 105394809 single base substitution G A upstream_gene_variant MELA-AU 3 105394864 105394864 single base substitution G A downstream_gene_variant MELA-AU 3 105394864 105394864 single base substitution G A intron_variant MELA-AU 3 105394864 105394864 single base substitution G A upstream_gene_variant MELA-AU 3 105394885 105394885 single base substitution G A downstream_gene_variant MELA-AU 3 105394885 105394885 single base substitution G A intron_variant MELA-AU 3 105394885 105394885 single base substitution G A upstream_gene_variant MELA-AU 3 105395156 105395156 single base substitution G A downstream_gene_variant MELA-AU 3 105395156 105395156 single base substitution G A intron_variant MELA-AU 3 105395156 105395156 single base substitution G A upstream_gene_variant MELA-AU 3 105395400 105395400 single base substitution G A downstream_gene_variant MELA-AU 3 105395400 105395400 single base substitution G A intron_variant MELA-AU 3 105395400 105395400 single base substitution G A upstream_gene_variant MELA-AU 3 105395701 105395701 single base substitution G A downstream_gene_variant MELA-AU 3 105395701 105395701 single base substitution G A intron_variant MELA-AU 3 105395701 105395701 single base substitution G A upstream_gene_variant MELA-AU 3 105395834 105395834 single base substitution G A downstream_gene_variant MELA-AU 3 105395834 105395834 single base substitution G A intron_variant MELA-AU 3 105395834 105395834 single base substitution G A upstream_gene_variant MELA-AU 3 105395947 105395947 single base substitution G A downstream_gene_variant MELA-AU 3 105395947 105395947 single base substitution G A intron_variant MELA-AU 3 105395947 105395947 single base substitution G A upstream_gene_variant MELA-AU 3 105396245 105396245 single base substitution A G downstream_gene_variant MELA-AU 3 105396245 105396245 single base substitution A G intron_variant MELA-AU 3 105396245 105396245 single base substitution A G upstream_gene_variant MELA-AU 3 105396434 105396434 single base substitution G A downstream_gene_variant MELA-AU 3 105396434 105396434 single base substitution G A intron_variant MELA-AU 3 105396434 105396434 single base substitution G A upstream_gene_variant MELA-AU 3 105396554 105396554 single base substitution G A downstream_gene_variant MELA-AU 3 105396554 105396554 single base substitution G A intron_variant MELA-AU 3 105396554 105396554 single base substitution G A upstream_gene_variant MELA-AU 3 105397133 105397133 single base substitution G A downstream_gene_variant MELA-AU 3 105397133 105397133 single base substitution G A intron_variant MELA-AU 3 105397133 105397133 single base substitution G A upstream_gene_variant MELA-AU 3 105397281 105397281 single base substitution G A downstream_gene_variant MELA-AU 3 105397281 105397281 single base substitution G A missense_variant P194S 580C>T MELA-AU 3 105397281 105397281 single base substitution G A missense_variant P70S 208C>T MELA-AU 3 105397281 105397281 single base substitution G A missense_variant P833S 2497C>T MELA-AU 3 105397281 105397281 single base substitution G A missense_variant P855S 2563C>T MELA-AU 3 105397281 105397281 single base substitution G A upstream_gene_variant MELA-AU 3 105397350 105397350 single base substitution G A downstream_gene_variant MELA-AU 3 105397350 105397350 single base substitution G A missense_variant L171F 511C>T MELA-AU 3 105397350 105397350 single base substitution G A missense_variant L47F 139C>T MELA-AU 3 105397350 105397350 single base substitution G A missense_variant L810F 2428C>T MELA-AU 3 105397350 105397350 single base substitution G A missense_variant L832F 2494C>T MELA-AU 3 105397350 105397350 single base substitution G A upstream_gene_variant MELA-AU 3 105397388 105397388 single base substitution G A downstream_gene_variant MELA-AU 3 105397388 105397388 single base substitution G A missense_variant P158L 473C>T MELA-AU 3 105397388 105397388 single base substitution G A missense_variant P34L 101C>T MELA-AU 3 105397388 105397388 single base substitution G A missense_variant P797L 2390C>T MELA-AU 3 105397388 105397388 single base substitution G A missense_variant P819L 2456C>T MELA-AU 3 105397388 105397388 single base substitution G A upstream_gene_variant MELA-AU 3 105398571 105398571 single base substitution G A downstream_gene_variant MELA-AU 3 105398571 105398571 single base substitution G A intron_variant MELA-AU 3 105398836 105398836 single base substitution G A downstream_gene_variant MELA-AU 3 105398836 105398836 single base substitution G A intron_variant MELA-AU 3 105399163 105399163 single base substitution G A downstream_gene_variant MELA-AU 3 105399163 105399163 single base substitution G A intron_variant MELA-AU 3 105399321 105399321 single base substitution G A downstream_gene_variant MELA-AU 3 105399321 105399321 single base substitution G A intron_variant MELA-AU 3 105399336 105399336 single base substitution G A downstream_gene_variant MELA-AU 3 105399336 105399336 single base substitution G A intron_variant MELA-AU 3 105399558 105399558 single base substitution G A downstream_gene_variant MELA-AU 3 105399558 105399558 single base substitution G A intron_variant MELA-AU 3 105399863 105399863 single base substitution G A 3_prime_UTR_variant MELA-AU 3 105399863 105399863 single base substitution G A intron_variant MELA-AU 3 105400180 105400180 single base substitution C T 3_prime_UTR_variant MELA-AU 3 105400180 105400180 single base substitution C T intron_variant MELA-AU 3 105400333 105400333 single base substitution G A 3_prime_UTR_variant MELA-AU 3 105400333 105400333 single base substitution G A intron_variant MELA-AU 3 105400333 105400333 single base substitution G A synonymous_variant I806I 2418C>T MELA-AU 3 105400501 105400501 single base substitution G A 3_prime_UTR_variant MELA-AU 3 105400501 105400501 single base substitution G A intron_variant MELA-AU 3 105400618 105400618 single base substitution G A missense_variant P132L 395C>T MELA-AU 3 105400618 105400618 single base substitution G A missense_variant P749L 2246C>T MELA-AU 3 105400618 105400618 single base substitution G A missense_variant P771L 2312C>T MELA-AU 3 105400618 105400618 single base substitution G A missense_variant P8L 23C>T MELA-AU 3 105400660 105400660 single base substitution G A 5_prime_UTR_variant MELA-AU 3 105400660 105400660 single base substitution G A missense_variant S118F 353C>T MELA-AU 3 105400660 105400660 single base substitution G A missense_variant S735F 2204C>T MELA-AU 3 105400660 105400660 single base substitution G A missense_variant S757F 2270C>T MELA-AU 3 105401617 105401617 single base substitution G A intron_variant MELA-AU 3 105401617 105401617 single base substitution G A upstream_gene_variant MELA-AU 3 105402016 105402016 single base substitution G A intron_variant MELA-AU 3 105402016 105402016 single base substitution G A upstream_gene_variant MELA-AU 3 105402522 105402522 single base substitution G A intron_variant MELA-AU 3 105402522 105402522 single base substitution G A upstream_gene_variant MELA-AU 3 105402768 105402768 single base substitution A C intron_variant MELA-AU 3 105402768 105402768 single base substitution A C upstream_gene_variant MELA-AU 3 105402887 105402887 single base substitution G A intron_variant MELA-AU 3 105402887 105402887 single base substitution G A upstream_gene_variant MELA-AU 3 105403165 105403165 single base substitution C T intron_variant MELA-AU 3 105403165 105403165 single base substitution C T upstream_gene_variant MELA-AU 3 105403500 105403500 single base substitution G A intron_variant MELA-AU 3 105403500 105403500 single base substitution G A upstream_gene_variant MELA-AU 3 105403640 105403640 single base substitution C T intron_variant MELA-AU 3 105403640 105403640 single base substitution C T upstream_gene_variant MELA-AU 3 105404022 105404022 single base substitution G A intron_variant MELA-AU 3 105404022 105404022 single base substitution G A upstream_gene_variant MELA-AU 3 105404066 105404066 single base substitution G A intron_variant MELA-AU 3 105404066 105404066 single base substitution G A upstream_gene_variant MELA-AU 3 105404318 105404318 single base substitution G A splice_region_variant MELA-AU 3 105404318 105404318 single base substitution G A upstream_gene_variant MELA-AU 3 105404819 105404819 single base substitution G A intron_variant MELA-AU 3 105404819 105404819 single base substitution G A upstream_gene_variant MELA-AU 3 105404835 105404835 single base substitution T C intron_variant MELA-AU 3 105404835 105404835 single base substitution T C upstream_gene_variant MELA-AU 3 105405095 105405095 single base substitution C T intron_variant MELA-AU 3 105405095 105405095 single base substitution C T upstream_gene_variant MELA-AU 3 105405352 105405352 single base substitution G A intron_variant MELA-AU 3 105405352 105405352 single base substitution G A upstream_gene_variant MELA-AU 3 105405353 105405353 single base substitution G A intron_variant MELA-AU 3 105405353 105405353 single base substitution G A upstream_gene_variant MELA-AU 3 105405590 105405590 single base substitution C T intron_variant MELA-AU 3 105405590 105405590 single base substitution C T upstream_gene_variant MELA-AU 3 105405659 105405659 single base substitution G T intron_variant MELA-AU 3 105405659 105405659 single base substitution G T upstream_gene_variant MELA-AU 3 105405861 105405861 single base substitution G A intron_variant MELA-AU 3 105405861 105405861 single base substitution G A upstream_gene_variant MELA-AU 3 105406069 105406069 single base substitution A G intron_variant MELA-AU 3 105406982 105406982 single base substitution A G intron_variant MELA-AU 3 105407983 105407983 single base substitution G A intron_variant MELA-AU 3 105408867 105408867 single base substitution G A intron_variant MELA-AU 3 105409452 105409452 single base substitution G A intron_variant MELA-AU 3 105409827 105409827 single base substitution G A intron_variant MELA-AU 3 105411052 105411052 single base substitution C T intron_variant MELA-AU 3 105411507 105411507 single base substitution G A intron_variant MELA-AU 3 105411671 105411671 single base substitution G A intron_variant MELA-AU 3 105411809 105411809 single base substitution G A intron_variant MELA-AU 3 105411889 105411890 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 105412027 105412027 single base substitution G A intron_variant MELA-AU 3 105412074 105412074 single base substitution C T intron_variant MELA-AU 3 105412619 105412619 single base substitution G A intron_variant MELA-AU 3 105412650 105412650 single base substitution G A intron_variant MELA-AU 3 105412825 105412825 single base substitution C T intron_variant MELA-AU 3 105413406 105413406 single base substitution C T intron_variant MELA-AU 3 105413995 105413995 single base substitution G A intron_variant MELA-AU 3 105414314 105414314 single base substitution T C intron_variant MELA-AU 3 105414624 105414624 single base substitution A G intron_variant MELA-AU 3 105415057 105415057 single base substitution C T intron_variant MELA-AU 3 105416095 105416095 single base substitution G A intron_variant MELA-AU 3 105416450 105416450 single base substitution G A intron_variant MELA-AU 3 105416717 105416717 single base substitution G A intron_variant MELA-AU 3 105416918 105416918 single base substitution C T intron_variant MELA-AU 3 105417030 105417030 single base substitution G A intron_variant MELA-AU 3 105417039 105417039 single base substitution G A intron_variant MELA-AU 3 105417065 105417065 single base substitution C T intron_variant MELA-AU 3 105417189 105417189 single base substitution G A intron_variant MELA-AU 3 105417421 105417421 single base substitution A G intron_variant MELA-AU 3 105418034 105418034 single base substitution G A intron_variant MELA-AU 3 105418949 105418949 single base substitution G A intron_variant MELA-AU 3 105418991 105418991 single base substitution T C intron_variant MELA-AU 3 105419207 105419207 single base substitution G A intron_variant MELA-AU 3 105419332 105419332 single base substitution C T intron_variant MELA-AU 3 105419827 105419827 single base substitution G A intron_variant MELA-AU 3 105420096 105420096 single base substitution G A intron_variant MELA-AU 3 105420130 105420130 single base substitution G A intron_variant MELA-AU 3 105420389 105420389 single base substitution C T intron_variant MELA-AU 3 105420431 105420431 single base substitution A G intron_variant MELA-AU 3 105420647 105420647 single base substitution A T intron_variant MELA-AU 3 105420684 105420684 single base substitution G A intron_variant MELA-AU 3 105420852 105420852 single base substitution A C intron_variant MELA-AU 3 105421810 105421810 single base substitution C T intron_variant MELA-AU 3 105421810 105421810 single base substitution C T upstream_gene_variant MELA-AU 3 105422705 105422705 single base substitution G A intron_variant MELA-AU 3 105422705 105422705 single base substitution G A upstream_gene_variant MELA-AU 3 105422928 105422928 single base substitution G A synonymous_variant I499I 1497C>T MELA-AU 3 105422928 105422928 single base substitution G A synonymous_variant I521I 1563C>T MELA-AU 3 105422928 105422928 single base substitution G A upstream_gene_variant MELA-AU 3 105422972 105422972 single base substitution G A missense_variant P485S 1453C>T MELA-AU 3 105422972 105422972 single base substitution G A missense_variant P507S 1519C>T MELA-AU 3 105422972 105422972 single base substitution G A upstream_gene_variant MELA-AU 3 105423094 105423094 single base substitution G A intron_variant MELA-AU 3 105423094 105423094 single base substitution G A upstream_gene_variant MELA-AU 3 105423327 105423327 single base substitution G A intron_variant MELA-AU 3 105423327 105423327 single base substitution G A upstream_gene_variant MELA-AU 3 105423491 105423491 single base substitution G A intron_variant MELA-AU 3 105423491 105423491 single base substitution G A upstream_gene_variant MELA-AU 3 105423688 105423688 single base substitution G C intron_variant MELA-AU 3 105423688 105423688 single base substitution G C upstream_gene_variant MELA-AU 3 105423701 105423701 single base substitution C T intron_variant MELA-AU 3 105423701 105423701 single base substitution C T upstream_gene_variant MELA-AU 3 105424106 105424106 single base substitution C T intron_variant MELA-AU 3 105424106 105424106 single base substitution C T upstream_gene_variant MELA-AU 3 105424122 105424122 single base substitution G A intron_variant MELA-AU 3 105424122 105424122 single base substitution G A upstream_gene_variant MELA-AU 3 105424161 105424161 single base substitution G A intron_variant MELA-AU 3 105424161 105424161 single base substitution G A upstream_gene_variant MELA-AU 3 105425361 105425361 single base substitution C T intron_variant MELA-AU 3 105425361 105425361 single base substitution C T upstream_gene_variant MELA-AU 3 105425405 105425405 single base substitution A T intron_variant MELA-AU 3 105425405 105425405 single base substitution A T upstream_gene_variant MELA-AU 3 105425966 105425966 single base substitution G A intron_variant MELA-AU 3 105425966 105425966 single base substitution G A upstream_gene_variant MELA-AU 3 105426306 105426306 single base substitution C T intron_variant MELA-AU 3 105426708 105426708 single base substitution A G intron_variant MELA-AU 3 105426938 105426938 single base substitution C A intron_variant MELA-AU 3 105427033 105427033 single base substitution T G intron_variant MELA-AU 3 105427062 105427062 single base substitution G A intron_variant MELA-AU 3 105427322 105427322 single base substitution G A intron_variant MELA-AU 3 105427746 105427746 single base substitution G A intron_variant MELA-AU 3 105427746 105427747 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 105428230 105428230 single base substitution C T intron_variant MELA-AU 3 105428259 105428259 single base substitution C T intron_variant MELA-AU 3 105428506 105428506 single base substitution G A intron_variant MELA-AU 3 105428923 105428923 single base substitution C T intron_variant MELA-AU 3 105429137 105429137 single base substitution C A intron_variant MELA-AU 3 105429517 105429517 single base substitution C T intron_variant MELA-AU 3 105429863 105429863 single base substitution C T intron_variant MELA-AU 3 105429917 105429917 single base substitution C A intron_variant MELA-AU 3 105430163 105430163 single base substitution G A intron_variant MELA-AU 3 105430342 105430349 deletion of <=200bp CTTACACA - intron_variant MELA-AU 3 105430791 105430791 single base substitution G A intron_variant MELA-AU 3 105430958 105430958 single base substitution G A intron_variant MELA-AU 3 105431739 105431739 single base substitution C T intron_variant MELA-AU 3 105431938 105431938 single base substitution A C intron_variant MELA-AU 3 105432087 105432087 single base substitution G A intron_variant MELA-AU 3 105432143 105432143 single base substitution G A intron_variant MELA-AU 3 105432752 105432752 single base substitution A C intron_variant MELA-AU 3 105432778 105432778 single base substitution C T intron_variant MELA-AU 3 105432924 105432924 single base substitution T G intron_variant MELA-AU 3 105433051 105433051 single base substitution G A intron_variant MELA-AU 3 105433142 105433142 single base substitution A T intron_variant MELA-AU 3 105433369 105433369 single base substitution G A intron_variant MELA-AU 3 105433642 105433642 single base substitution G A intron_variant MELA-AU 3 105433745 105433745 single base substitution C T intron_variant MELA-AU 3 105433797 105433797 single base substitution A T intron_variant MELA-AU 3 105434386 105434386 single base substitution C T downstream_gene_variant MELA-AU 3 105434386 105434386 single base substitution C T intron_variant MELA-AU 3 105434517 105434517 single base substitution G A downstream_gene_variant MELA-AU 3 105434517 105434517 single base substitution G A intron_variant MELA-AU 3 105434692 105434692 single base substitution G A downstream_gene_variant MELA-AU 3 105434692 105434692 single base substitution G A intron_variant MELA-AU 3 105434940 105434940 single base substitution G A downstream_gene_variant MELA-AU 3 105434940 105434940 single base substitution G A intron_variant MELA-AU 3 105434954 105434954 single base substitution G A downstream_gene_variant MELA-AU 3 105434954 105434954 single base substitution G A intron_variant MELA-AU 3 105435185 105435185 single base substitution G A downstream_gene_variant MELA-AU 3 105435185 105435185 single base substitution G A intron_variant MELA-AU 3 105435726 105435726 single base substitution G A downstream_gene_variant MELA-AU 3 105435726 105435726 single base substitution G A intron_variant MELA-AU 3 105435787 105435787 single base substitution G A downstream_gene_variant MELA-AU 3 105435787 105435787 single base substitution G A intron_variant MELA-AU 3 105435870 105435870 single base substitution T C downstream_gene_variant MELA-AU 3 105435870 105435870 single base substitution T C intron_variant MELA-AU 3 105435942 105435942 single base substitution G A downstream_gene_variant MELA-AU 3 105435942 105435942 single base substitution G A intron_variant MELA-AU 3 105435968 105435968 single base substitution C T downstream_gene_variant MELA-AU 3 105435968 105435968 single base substitution C T intron_variant MELA-AU 3 105436033 105436033 single base substitution A T downstream_gene_variant MELA-AU 3 105436033 105436033 single base substitution A T intron_variant MELA-AU 3 105436083 105436083 single base substitution G A downstream_gene_variant MELA-AU 3 105436083 105436083 single base substitution G A intron_variant MELA-AU 3 105436254 105436254 single base substitution G A downstream_gene_variant MELA-AU 3 105436254 105436254 single base substitution G A intron_variant MELA-AU 3 105436812 105436813 multiple base substitution (>=2bp and <=200bp) TC AA downstream_gene_variant MELA-AU 3 105436812 105436813 multiple base substitution (>=2bp and <=200bp) TC AA intron_variant MELA-AU 3 105436906 105436906 single base substitution C T downstream_gene_variant MELA-AU 3 105436906 105436906 single base substitution C T intron_variant MELA-AU 3 105437042 105437042 single base substitution C T downstream_gene_variant MELA-AU 3 105437042 105437042 single base substitution C T intron_variant MELA-AU 3 105438662 105438662 single base substitution G A downstream_gene_variant MELA-AU 3 105438662 105438662 single base substitution G A intron_variant MELA-AU 3 105439144 105439144 single base substitution C T intron_variant MELA-AU 3 105439179 105439179 single base substitution G A intron_variant MELA-AU 3 105439216 105439216 single base substitution G A intron_variant MELA-AU 3 105439357 105439357 single base substitution A T intron_variant MELA-AU 3 105439612 105439612 single base substitution G A intron_variant MELA-AU 3 105439615 105439615 single base substitution A C intron_variant MELA-AU 3 105439747 105439747 single base substitution G A intron_variant MELA-AU 3 105440083 105440083 single base substitution G A intron_variant MELA-AU 3 105440088 105440088 single base substitution G A intron_variant MELA-AU 3 105440147 105440147 single base substitution A T intron_variant MELA-AU 3 105440197 105440197 single base substitution G A intron_variant MELA-AU 3 105440489 105440489 single base substitution A G intron_variant MELA-AU 3 105440521 105440521 single base substitution G A intron_variant MELA-AU 3 105440555 105440555 single base substitution C T intron_variant MELA-AU 3 105441288 105441288 single base substitution C T intron_variant MELA-AU 3 105441446 105441446 single base substitution T A intron_variant MELA-AU 3 105441633 105441633 single base substitution G A intron_variant MELA-AU 3 105441932 105441932 single base substitution G A intron_variant MELA-AU 3 105442461 105442461 single base substitution A C intron_variant MELA-AU 3 105443592 105443592 single base substitution G A intron_variant MELA-AU 3 105443873 105443873 single base substitution A T intron_variant MELA-AU 3 105444694 105444694 single base substitution C T intron_variant MELA-AU 3 105444927 105444927 single base substitution A C intron_variant MELA-AU 3 105444986 105444986 single base substitution C T intron_variant MELA-AU 3 105445332 105445332 single base substitution A T intron_variant MELA-AU 3 105445928 105445929 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 105445936 105445936 single base substitution G A intron_variant MELA-AU 3 105446270 105446270 single base substitution C T intron_variant MELA-AU 3 105446670 105446670 single base substitution C T intron_variant MELA-AU 3 105446692 105446692 single base substitution G A intron_variant MELA-AU 3 105446819 105446819 single base substitution G A intron_variant MELA-AU 3 105446890 105446890 single base substitution G A intron_variant MELA-AU 3 105446973 105446973 single base substitution G A intron_variant MELA-AU 3 105447220 105447220 single base substitution G A intron_variant MELA-AU 3 105447325 105447325 single base substitution G A intron_variant MELA-AU 3 105448009 105448009 single base substitution G A intron_variant MELA-AU 3 105448457 105448457 single base substitution C T intron_variant MELA-AU 3 105448710 105448710 single base substitution G A intron_variant MELA-AU 3 105448899 105448899 single base substitution T A intron_variant MELA-AU 3 105448947 105448947 single base substitution G A intron_variant MELA-AU 3 105449115 105449115 single base substitution G A intron_variant MELA-AU 3 105449471 105449471 single base substitution G A intron_variant MELA-AU 3 105449867 105449867 single base substitution C T intron_variant MELA-AU 3 105450161 105450161 single base substitution G A intron_variant MELA-AU 3 105450828 105450828 single base substitution G A intron_variant MELA-AU 3 105450852 105450852 single base substitution G A intron_variant MELA-AU 3 105450865 105450865 single base substitution G A intron_variant MELA-AU 3 105451338 105451338 single base substitution G A intron_variant MELA-AU 3 105451354 105451354 single base substitution G A intron_variant MELA-AU 3 105451364 105451364 single base substitution A G intron_variant MELA-AU 3 105451517 105451517 single base substitution A T intron_variant MELA-AU 3 105451763 105451763 single base substitution C T intron_variant MELA-AU 3 105451992 105451992 single base substitution G A intron_variant MELA-AU 3 105452368 105452368 single base substitution G A intron_variant MELA-AU 3 105453323 105453323 single base substitution G A intron_variant MELA-AU 3 105453637 105453637 single base substitution T G intron_variant MELA-AU 3 105453770 105453770 single base substitution G A intron_variant MELA-AU 3 105453956 105453956 single base substitution A C intron_variant MELA-AU 3 105453987 105453987 single base substitution A C intron_variant MELA-AU 3 105454261 105454261 single base substitution G A intron_variant MELA-AU 3 105454456 105454456 single base substitution G A intron_variant MELA-AU 3 105454518 105454518 single base substitution G A intron_variant MELA-AU 3 105454763 105454763 single base substitution C T intron_variant MELA-AU 3 105455061 105455061 single base substitution A G intron_variant MELA-AU 3 105455635 105455635 single base substitution A G intron_variant MELA-AU 3 105456091 105456091 single base substitution G A 3_prime_UTR_variant MELA-AU 3 105456091 105456091 single base substitution G A missense_variant P332L 995C>T MELA-AU 3 105456091 105456091 single base substitution G A missense_variant P354L 1061C>T MELA-AU 3 105456349 105456349 single base substitution G A intron_variant MELA-AU 3 105456407 105456407 single base substitution A C intron_variant MELA-AU 3 105456774 105456774 single base substitution G A intron_variant MELA-AU 3 105457204 105457204 single base substitution G A intron_variant MELA-AU 3 105457362 105457362 single base substitution C T intron_variant MELA-AU 3 105457416 105457416 single base substitution G A intron_variant MELA-AU 3 105457774 105457774 single base substitution G A intron_variant MELA-AU 3 105457974 105457974 single base substitution G A intron_variant MELA-AU 3 105458234 105458234 single base substitution G A intron_variant MELA-AU 3 105458428 105458429 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 105460585 105460585 single base substitution G A intron_variant MELA-AU 3 105461313 105461313 single base substitution A C intron_variant MELA-AU 3 105461345 105461345 single base substitution C T intron_variant MELA-AU 3 105462218 105462218 single base substitution C T intron_variant MELA-AU 3 105462782 105462782 single base substitution G A intron_variant MELA-AU 3 105462793 105462793 single base substitution T A intron_variant MELA-AU 3 105463211 105463211 single base substitution G A intron_variant MELA-AU 3 105463592 105463592 single base substitution G A intron_variant MELA-AU 3 105463607 105463607 single base substitution C T intron_variant MELA-AU 3 105464539 105464539 single base substitution G A intron_variant MELA-AU 3 105464598 105464598 single base substitution A G intron_variant MELA-AU 3 105464829 105464829 single base substitution A G 3_prime_UTR_variant MELA-AU 3 105464829 105464829 single base substitution A G synonymous_variant G259G 777T>C MELA-AU 3 105464829 105464829 single base substitution A G synonymous_variant G281G 843T>C MELA-AU 3 105465778 105465778 single base substitution G A intron_variant MELA-AU 3 105465975 105465975 single base substitution G A intron_variant MELA-AU 3 105466104 105466104 single base substitution A C intron_variant MELA-AU 3 105466341 105466341 single base substitution G A intron_variant MELA-AU 3 105467047 105467047 single base substitution A G intron_variant MELA-AU 3 105467142 105467142 single base substitution G A intron_variant MELA-AU 3 105467596 105467596 single base substitution G A intron_variant MELA-AU 3 105467966 105467966 single base substitution T G intron_variant MELA-AU 3 105468014 105468014 single base substitution A G intron_variant MELA-AU 3 105468351 105468351 single base substitution C T intron_variant MELA-AU 3 105468401 105468401 single base substitution G A intron_variant MELA-AU 3 105468811 105468817 deletion of <=200bp TAGAAGG - intron_variant MELA-AU 3 105468926 105468926 single base substitution G A intron_variant MELA-AU 3 105469743 105469743 single base substitution G A intron_variant MELA-AU 3 105470439 105470439 single base substitution A T missense_variant F170Y 509T>A MELA-AU 3 105470439 105470439 single base substitution A T missense_variant F197Y 590T>A MELA-AU 3 105470439 105470439 single base substitution A T missense_variant F219Y 656T>A MELA-AU 3 105470483 105470483 single base substitution G A intron_variant MELA-AU 3 105470484 105470484 single base substitution G A intron_variant MELA-AU 3 105470485 105470485 single base substitution G A intron_variant MELA-AU 3 105470800 105470812 deletion of <=200bp ATAATGAATCAAG - intron_variant MELA-AU 3 105471021 105471021 single base substitution G A intron_variant MELA-AU 3 105471063 105471063 single base substitution G A intron_variant MELA-AU 3 105471326 105471326 single base substitution G A intron_variant MELA-AU 3 105472125 105472125 single base substitution C T intron_variant MELA-AU 3 105472465 105472465 single base substitution C T intron_variant MELA-AU 3 105473006 105473006 single base substitution G A intron_variant MELA-AU 3 105473365 105473365 single base substitution G C intron_variant MELA-AU 3 105474607 105474607 single base substitution G A intron_variant MELA-AU 3 105474791 105474791 single base substitution G A intron_variant MELA-AU 3 105474891 105474891 single base substitution A G intron_variant MELA-AU 3 105475336 105475337 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 3 105475726 105475726 single base substitution C T intron_variant MELA-AU 3 105476171 105476171 single base substitution C T intron_variant MELA-AU 3 105476420 105476420 single base substitution C A intron_variant MELA-AU 3 105477024 105477024 single base substitution G A intron_variant MELA-AU 3 105477644 105477644 single base substitution G A intron_variant MELA-AU 3 105478046 105478046 single base substitution C T intron_variant MELA-AU 3 105478117 105478117 single base substitution G A intron_variant MELA-AU 3 105478155 105478155 single base substitution A T intron_variant MELA-AU 3 105478258 105478258 single base substitution G A intron_variant MELA-AU 3 105478616 105478616 single base substitution G A intron_variant MELA-AU 3 105478734 105478734 single base substitution G A intron_variant MELA-AU 3 105478907 105478907 single base substitution G A intron_variant MELA-AU 3 105478968 105478968 single base substitution A G intron_variant MELA-AU 3 105479502 105479502 single base substitution A G intron_variant MELA-AU 3 105480067 105480067 single base substitution G A intron_variant MELA-AU 3 105480283 105480283 single base substitution G A intron_variant MELA-AU 3 105480470 105480470 single base substitution G A intron_variant MELA-AU 3 105480675 105480675 single base substitution G A intron_variant MELA-AU 3 105480759 105480759 single base substitution G A intron_variant MELA-AU 3 105480891 105480891 single base substitution A G intron_variant MELA-AU 3 105481142 105481143 multiple base substitution (>=2bp and <=200bp) AG CA intron_variant MELA-AU 3 105481180 105481180 single base substitution G A intron_variant MELA-AU 3 105481371 105481371 single base substitution C T intron_variant MELA-AU 3 105481591 105481591 single base substitution G A intron_variant MELA-AU 3 105481595 105481595 single base substitution G A intron_variant MELA-AU 3 105481595 105481596 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 3 105481662 105481662 single base substitution G A intron_variant MELA-AU 3 105481770 105481770 single base substitution G A intron_variant MELA-AU 3 105481799 105481799 single base substitution G A intron_variant MELA-AU 3 105481907 105481907 single base substitution G A intron_variant MELA-AU 3 105482412 105482412 single base substitution G A intron_variant MELA-AU 3 105482701 105482701 single base substitution G A intron_variant MELA-AU 3 105482701 105482702 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 105482834 105482834 single base substitution G A intron_variant MELA-AU 3 105483138 105483138 single base substitution A G intron_variant MELA-AU 3 105483631 105483631 single base substitution G A intron_variant MELA-AU 3 105483685 105483685 single base substitution C T intron_variant MELA-AU 3 105483692 105483692 single base substitution G A intron_variant MELA-AU 3 105484161 105484161 deletion of <=200bp A - intron_variant MELA-AU 3 105484656 105484656 single base substitution G A intron_variant MELA-AU 3 105484870 105484870 single base substitution G A intron_variant MELA-AU 3 105484906 105484906 single base substitution G A intron_variant MELA-AU 3 105485026 105485027 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 105485064 105485064 single base substitution G A intron_variant MELA-AU 3 105485159 105485159 single base substitution G A intron_variant MELA-AU 3 105485955 105485955 single base substitution G A intron_variant MELA-AU 3 105486126 105486126 single base substitution G A intron_variant MELA-AU 3 105486224 105486224 single base substitution G A intron_variant MELA-AU 3 105486266 105486266 single base substitution G A intron_variant MELA-AU 3 105486972 105486972 single base substitution T C intron_variant MELA-AU 3 105487412 105487412 single base substitution G T intron_variant MELA-AU 3 105487433 105487433 single base substitution G A intron_variant MELA-AU 3 105487594 105487594 single base substitution A T intron_variant MELA-AU 3 105487623 105487623 single base substitution C T intron_variant MELA-AU 3 105487758 105487758 single base substitution G A intron_variant MELA-AU 3 105487822 105487822 single base substitution G A intron_variant MELA-AU 3 105487928 105487928 single base substitution C A intron_variant MELA-AU 3 105487944 105487944 single base substitution G A intron_variant MELA-AU 3 105488097 105488097 single base substitution G A intron_variant MELA-AU 3 105488202 105488202 single base substitution G A intron_variant MELA-AU 3 105488725 105488725 single base substitution G A intron_variant MELA-AU 3 105488932 105488932 single base substitution T G intron_variant MELA-AU 3 105489019 105489019 single base substitution G A intron_variant MELA-AU 3 105489397 105489397 single base substitution G A intron_variant MELA-AU 3 105489590 105489590 single base substitution G A intron_variant MELA-AU 3 105489657 105489657 single base substitution G A intron_variant MELA-AU 3 105489802 105489802 single base substitution C T intron_variant MELA-AU 3 105490399 105490401 deletion of <=200bp AAG - intron_variant MELA-AU 3 105490696 105490696 single base substitution G A intron_variant MELA-AU 3 105490713 105490713 single base substitution G A intron_variant MELA-AU 3 105490829 105490829 single base substitution A G intron_variant MELA-AU 3 105490878 105490878 single base substitution C T intron_variant MELA-AU 3 105490924 105490924 single base substitution G A intron_variant MELA-AU 3 105493068 105493068 single base substitution C T intron_variant MELA-AU 3 105493092 105493092 single base substitution G A intron_variant MELA-AU 3 105493148 105493148 single base substitution G A intron_variant MELA-AU 3 105493981 105493981 single base substitution A C intron_variant MELA-AU 3 105494239 105494239 single base substitution G A intron_variant MELA-AU 3 105494682 105494682 single base substitution C A intron_variant MELA-AU 3 105494684 105494684 single base substitution T G intron_variant MELA-AU 3 105494767 105494767 single base substitution G A intron_variant MELA-AU 3 105494796 105494796 single base substitution C T intron_variant MELA-AU 3 105494868 105494868 single base substitution A C intron_variant MELA-AU 3 105495195 105495195 single base substitution C T intron_variant MELA-AU 3 105495285 105495285 single base substitution G C intron_variant MELA-AU 3 105495285 105495285 single base substitution G C missense_variant T174R 521C>G MELA-AU 3 105495285 105495285 single base substitution G C missense_variant T196R 587C>G MELA-AU 3 105495384 105495384 single base substitution C G intron_variant MELA-AU 3 105495384 105495384 single base substitution C G missense_variant R141P 422G>C MELA-AU 3 105495384 105495384 single base substitution C G missense_variant R163P 488G>C MELA-AU 3 105496240 105496240 single base substitution G A intron_variant MELA-AU 3 105496302 105496302 single base substitution G A intron_variant MELA-AU 3 105496489 105496489 single base substitution G A intron_variant MELA-AU 3 105497244 105497244 single base substitution G A intron_variant MELA-AU 3 105497427 105497427 single base substitution C T intron_variant MELA-AU 3 105497464 105497464 single base substitution G T intron_variant MELA-AU 3 105497741 105497741 single base substitution G A intron_variant MELA-AU 3 105498009 105498009 single base substitution A T intron_variant MELA-AU 3 105498057 105498058 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 105498440 105498440 single base substitution C T intron_variant MELA-AU 3 105498966 105498966 single base substitution G A intron_variant MELA-AU 3 105499281 105499281 single base substitution A G intron_variant MELA-AU 3 105499570 105499570 single base substitution G A intron_variant MELA-AU 3 105499742 105499742 single base substitution G A intron_variant MELA-AU 3 105500413 105500413 single base substitution G A intron_variant MELA-AU 3 105500486 105500486 single base substitution G A intron_variant MELA-AU 3 105500889 105500916 deletion of <=200bp TGACCTTAGGAATGTTGTGATTCCTAAG - intron_variant MELA-AU 3 105501216 105501216 single base substitution G A intron_variant MELA-AU 3 105501290 105501290 single base substitution G A intron_variant MELA-AU 3 105501870 105501870 single base substitution G A intron_variant MELA-AU 3 105502110 105502110 single base substitution C T intron_variant MELA-AU 3 105502336 105502336 single base substitution G A intron_variant MELA-AU 3 105502537 105502537 single base substitution C T intron_variant MELA-AU 3 105502590 105502590 single base substitution A G intron_variant MELA-AU 3 105502749 105502749 single base substitution G A intron_variant MELA-AU 3 105503799 105503799 single base substitution G A intron_variant MELA-AU 3 105503843 105503843 single base substitution A T intron_variant MELA-AU 3 105504571 105504571 single base substitution C T intron_variant MELA-AU 3 105505113 105505113 single base substitution T G intron_variant MELA-AU 3 105505308 105505308 single base substitution G A intron_variant MELA-AU 3 105505961 105505961 single base substitution C T intron_variant MELA-AU 3 105506258 105506258 single base substitution A G intron_variant MELA-AU 3 105507333 105507333 single base substitution G A intron_variant MELA-AU 3 105507840 105507840 single base substitution G A intron_variant MELA-AU 3 105507910 105507910 single base substitution A C intron_variant MELA-AU 3 105507949 105507949 single base substitution G A intron_variant MELA-AU 3 105508099 105508099 single base substitution G A intron_variant MELA-AU 3 105508333 105508333 single base substitution G A intron_variant MELA-AU 3 105508800 105508800 single base substitution G A intron_variant MELA-AU 3 105509504 105509504 single base substitution G A intron_variant MELA-AU 3 105509513 105509513 single base substitution G A intron_variant MELA-AU 3 105509681 105509681 single base substitution G A intron_variant MELA-AU 3 105510242 105510242 single base substitution G A intron_variant MELA-AU 3 105510449 105510449 single base substitution G A intron_variant MELA-AU 3 105510610 105510610 single base substitution G A intron_variant MELA-AU 3 105510952 105510952 single base substitution C T intron_variant MELA-AU 3 105511520 105511520 single base substitution G A intron_variant MELA-AU 3 105511549 105511549 single base substitution G A intron_variant MELA-AU 3 105512068 105512068 single base substitution A G intron_variant MELA-AU 3 105512455 105512455 single base substitution G A intron_variant MELA-AU 3 105512787 105512787 single base substitution G A intron_variant MELA-AU 3 105512968 105512968 single base substitution G A intron_variant MELA-AU 3 105513944 105513944 single base substitution G A intron_variant MELA-AU 3 105514025 105514026 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 105514354 105514354 single base substitution C T intron_variant MELA-AU 3 105514624 105514624 single base substitution G T intron_variant MELA-AU 3 105514626 105514626 single base substitution C T intron_variant MELA-AU 3 105514668 105514668 single base substitution A G intron_variant MELA-AU 3 105515134 105515134 single base substitution C A intron_variant MELA-AU 3 105515718 105515718 single base substitution G A intron_variant MELA-AU 3 105516185 105516185 single base substitution C T intron_variant MELA-AU 3 105516259 105516259 single base substitution G A intron_variant MELA-AU 3 105516774 105516774 single base substitution G A intron_variant MELA-AU 3 105516802 105516802 single base substitution G A intron_variant MELA-AU 3 105517587 105517587 single base substitution C T intron_variant MELA-AU 3 105517746 105517746 single base substitution G A intron_variant MELA-AU 3 105517917 105517917 single base substitution G A intron_variant MELA-AU 3 105518531 105518531 single base substitution G A intron_variant MELA-AU 3 105518894 105518894 single base substitution G A intron_variant MELA-AU 3 105518989 105518989 single base substitution G A intron_variant MELA-AU 3 105520015 105520015 single base substitution A T intron_variant MELA-AU 3 105521124 105521124 single base substitution G A intron_variant MELA-AU 3 105521218 105521218 single base substitution G A intron_variant MELA-AU 3 105521981 105521981 single base substitution G A intron_variant MELA-AU 3 105522721 105522721 single base substitution G A intron_variant MELA-AU 3 105522743 105522743 single base substitution A T intron_variant MELA-AU 3 105523403 105523403 single base substitution T C intron_variant MELA-AU 3 105523605 105523605 single base substitution T A intron_variant MELA-AU 3 105523829 105523830 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 105523973 105523973 single base substitution C T intron_variant MELA-AU 3 105525061 105525061 single base substitution G A intron_variant MELA-AU 3 105526059 105526059 single base substitution G A intron_variant MELA-AU 3 105526483 105526483 single base substitution G C intron_variant MELA-AU 3 105526932 105526932 single base substitution A T intron_variant MELA-AU 3 105528403 105528403 single base substitution C T intron_variant MELA-AU 3 105528548 105528548 single base substitution A G intron_variant MELA-AU 3 105528877 105528877 single base substitution A T intron_variant MELA-AU 3 105529204 105529204 single base substitution G A intron_variant MELA-AU 3 105529205 105529205 single base substitution G A intron_variant MELA-AU 3 105529238 105529238 single base substitution G A intron_variant MELA-AU 3 105529369 105529369 single base substitution G A intron_variant MELA-AU 3 105529464 105529464 single base substitution A G intron_variant MELA-AU 3 105529656 105529656 single base substitution G A intron_variant MELA-AU 3 105530657 105530657 single base substitution G A intron_variant MELA-AU 3 105531237 105531237 single base substitution G A intron_variant MELA-AU 3 105531372 105531372 single base substitution G A intron_variant MELA-AU 3 105531858 105531858 single base substitution G A intron_variant MELA-AU 3 105533167 105533167 single base substitution C T intron_variant MELA-AU 3 105533340 105533340 single base substitution G A intron_variant MELA-AU 3 105533541 105533541 single base substitution G C intron_variant MELA-AU 3 105533915 105533915 single base substitution G A intron_variant MELA-AU 3 105534170 105534170 single base substitution A C intron_variant MELA-AU 3 105534406 105534406 single base substitution G A intron_variant MELA-AU 3 105534510 105534510 single base substitution A G intron_variant MELA-AU 3 105534835 105534835 single base substitution G A intron_variant MELA-AU 3 105534898 105534898 single base substitution G A intron_variant MELA-AU 3 105535060 105535060 single base substitution A G intron_variant MELA-AU 3 105535374 105535374 single base substitution G A intron_variant MELA-AU 3 105535887 105535887 single base substitution G A intron_variant MELA-AU 3 105535912 105535912 single base substitution T A intron_variant MELA-AU 3 105536429 105536429 single base substitution G A intron_variant MELA-AU 3 105537436 105537436 single base substitution C A intron_variant MELA-AU 3 105538405 105538405 single base substitution C T intron_variant MELA-AU 3 105539686 105539686 single base substitution G A intron_variant MELA-AU 3 105539767 105539767 single base substitution C T intron_variant MELA-AU 3 105539789 105539789 single base substitution G A intron_variant MELA-AU 3 105539812 105539812 single base substitution A T intron_variant MELA-AU 3 105540053 105540053 single base substitution G A intron_variant MELA-AU 3 105540245 105540245 single base substitution C A intron_variant MELA-AU 3 105540547 105540547 single base substitution A T intron_variant MELA-AU 3 105540569 105540569 single base substitution G A intron_variant MELA-AU 3 105542360 105542360 single base substitution G A intron_variant MELA-AU 3 105542804 105542804 single base substitution C T intron_variant MELA-AU 3 105543038 105543038 single base substitution C T intron_variant MELA-AU 3 105543168 105543168 single base substitution G A intron_variant MELA-AU 3 105543333 105543333 single base substitution G A intron_variant MELA-AU 3 105543360 105543361 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 105543371 105543371 single base substitution C T intron_variant MELA-AU 3 105543434 105543434 single base substitution C T intron_variant MELA-AU 3 105543720 105543720 single base substitution A T intron_variant MELA-AU 3 105544124 105544124 single base substitution G A intron_variant MELA-AU 3 105544241 105544242 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 105544352 105544352 single base substitution G A intron_variant MELA-AU 3 105544449 105544449 single base substitution T C intron_variant MELA-AU 3 105545053 105545053 single base substitution A T intron_variant MELA-AU 3 105545730 105545730 single base substitution A T intron_variant MELA-AU 3 105546093 105546093 single base substitution A G intron_variant MELA-AU 3 105546222 105546222 single base substitution C A intron_variant MELA-AU 3 105546274 105546274 single base substitution C T intron_variant MELA-AU 3 105546499 105546499 single base substitution G A intron_variant MELA-AU 3 105546995 105546995 single base substitution G A intron_variant MELA-AU 3 105547191 105547191 single base substitution G A intron_variant MELA-AU 3 105547242 105547242 single base substitution G A intron_variant MELA-AU 3 105547597 105547597 deletion of <=200bp A - intron_variant MELA-AU 3 105548492 105548492 single base substitution G A intron_variant MELA-AU 3 105549772 105549772 single base substitution A C intron_variant MELA-AU 3 105549775 105549775 single base substitution A T intron_variant MELA-AU 3 105549824 105549824 single base substitution C T intron_variant MELA-AU 3 105549871 105549871 single base substitution G A intron_variant MELA-AU 3 105549898 105549898 single base substitution C T intron_variant MELA-AU 3 105550235 105550235 single base substitution G A intron_variant MELA-AU 3 105550247 105550247 single base substitution G A intron_variant MELA-AU 3 105550825 105550825 single base substitution C T intron_variant MELA-AU 3 105550864 105550864 single base substitution G A intron_variant MELA-AU 3 105551843 105551843 single base substitution G A intron_variant MELA-AU 3 105552133 105552133 single base substitution C T intron_variant MELA-AU 3 105552313 105552313 single base substitution G A intron_variant MELA-AU 3 105552356 105552356 single base substitution A G intron_variant MELA-AU 3 105552958 105552958 single base substitution G A intron_variant MELA-AU 3 105553407 105553407 single base substitution G A intron_variant MELA-AU 3 105553511 105553512 multiple base substitution (>=2bp and <=200bp) GA AG intron_variant MELA-AU 3 105553732 105553732 single base substitution G A intron_variant MELA-AU 3 105553967 105553967 single base substitution C T intron_variant MELA-AU 3 105554236 105554236 single base substitution A T intron_variant MELA-AU 3 105554237 105554237 single base substitution G A intron_variant MELA-AU 3 105554271 105554271 single base substitution G A intron_variant MELA-AU 3 105554765 105554765 single base substitution C T intron_variant MELA-AU 3 105555182 105555182 single base substitution C T intron_variant MELA-AU 3 105555980 105555981 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 105556309 105556309 single base substitution G A intron_variant MELA-AU 3 105556411 105556411 single base substitution G A intron_variant MELA-AU 3 105557360 105557360 single base substitution G A intron_variant MELA-AU 3 105557851 105557851 single base substitution G A intron_variant MELA-AU 3 105557859 105557859 single base substitution C T intron_variant MELA-AU 3 105558773 105558774 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 105558847 105558847 single base substitution G A intron_variant MELA-AU 3 105559897 105559897 single base substitution G A intron_variant MELA-AU 3 105559924 105559925 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 105560199 105560199 single base substitution G A intron_variant MELA-AU 3 105560519 105560519 single base substitution G A intron_variant MELA-AU 3 105562640 105562640 single base substitution T C intron_variant MELA-AU 3 105563649 105563649 single base substitution C G intron_variant MELA-AU 3 105564901 105564901 single base substitution C T intron_variant MELA-AU 3 105564923 105564923 single base substitution G A intron_variant MELA-AU 3 105565330 105565330 single base substitution A G intron_variant MELA-AU 3 105566379 105566379 single base substitution C T intron_variant MELA-AU 3 105566819 105566819 single base substitution A T intron_variant MELA-AU 3 105566997 105566997 single base substitution G A intron_variant MELA-AU 3 105567077 105567077 single base substitution G A intron_variant MELA-AU 3 105567992 105567992 single base substitution G A downstream_gene_variant MELA-AU 3 105567992 105567992 single base substitution G A intron_variant MELA-AU 3 105568576 105568576 single base substitution G A downstream_gene_variant MELA-AU 3 105568576 105568576 single base substitution G A intron_variant MELA-AU 3 105568923 105568923 single base substitution G A downstream_gene_variant MELA-AU 3 105568923 105568923 single base substitution G A intron_variant MELA-AU 3 105569008 105569008 single base substitution C T downstream_gene_variant MELA-AU 3 105569008 105569008 single base substitution C T intron_variant MELA-AU 3 105569254 105569254 single base substitution A T downstream_gene_variant MELA-AU 3 105569254 105569254 single base substitution A T intron_variant MELA-AU 3 105569259 105569259 single base substitution T G downstream_gene_variant MELA-AU 3 105569259 105569259 single base substitution T G intron_variant MELA-AU 3 105569430 105569430 single base substitution G A downstream_gene_variant MELA-AU 3 105569430 105569430 single base substitution G A intron_variant MELA-AU 3 105569719 105569719 single base substitution G A downstream_gene_variant MELA-AU 3 105569719 105569719 single base substitution G A intron_variant MELA-AU 3 105570385 105570385 single base substitution A T downstream_gene_variant MELA-AU 3 105570385 105570385 single base substitution A T intron_variant MELA-AU 3 105571781 105571781 single base substitution G A downstream_gene_variant MELA-AU 3 105571781 105571781 single base substitution G A intron_variant MELA-AU 3 105571982 105571982 single base substitution A T downstream_gene_variant MELA-AU 3 105571982 105571982 single base substitution A T intron_variant MELA-AU 3 105572016 105572016 single base substitution G A downstream_gene_variant MELA-AU 3 105572016 105572016 single base substitution G A intron_variant MELA-AU 3 105572019 105572020 multiple base substitution (>=2bp and <=200bp) GT AG downstream_gene_variant MELA-AU 3 105572019 105572020 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 3 105572068 105572068 single base substitution C T downstream_gene_variant MELA-AU 3 105572068 105572068 single base substitution C T intron_variant MELA-AU 3 105572967 105572967 single base substitution G A intron_variant MELA-AU 3 105573066 105573066 single base substitution C T intron_variant MELA-AU 3 105573222 105573223 multiple base substitution (>=2bp and <=200bp) GT TC intron_variant MELA-AU 3 105573540 105573540 single base substitution G A intron_variant MELA-AU 3 105573568 105573568 single base substitution C T intron_variant MELA-AU 3 105573724 105573724 single base substitution C T intron_variant MELA-AU 3 105573727 105573727 single base substitution G A intron_variant MELA-AU 3 105574107 105574107 single base substitution G A intron_variant MELA-AU 3 105574459 105574459 single base substitution G A intron_variant MELA-AU 3 105574794 105574794 single base substitution G A intron_variant MELA-AU 3 105574908 105574908 single base substitution G A intron_variant MELA-AU 3 105575242 105575242 single base substitution G A intron_variant MELA-AU 3 105575772 105575773 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 105576079 105576079 single base substitution C T intron_variant MELA-AU 3 105576439 105576439 single base substitution G A intron_variant MELA-AU 3 105576666 105576666 single base substitution G A intron_variant MELA-AU 3 105577012 105577012 single base substitution G A intron_variant MELA-AU 3 105577657 105577657 single base substitution G A intron_variant MELA-AU 3 105578065 105578065 single base substitution G A intron_variant MELA-AU 3 105578184 105578184 single base substitution T A intron_variant MELA-AU 3 105578286 105578286 single base substitution G A intron_variant MELA-AU 3 105579105 105579105 single base substitution G A intron_variant MELA-AU 3 105579769 105579769 single base substitution G A intron_variant MELA-AU 3 105579871 105579871 single base substitution A G intron_variant MELA-AU 3 105581118 105581118 single base substitution G A intron_variant MELA-AU 3 105581138 105581138 single base substitution G A intron_variant MELA-AU 3 105582251 105582251 single base substitution G A intron_variant MELA-AU 3 105582503 105582503 single base substitution A T intron_variant MELA-AU 3 105582829 105582829 single base substitution G A intron_variant MELA-AU 3 105583065 105583065 single base substitution T C intron_variant MELA-AU 3 105583172 105583172 single base substitution G A intron_variant MELA-AU 3 105584218 105584218 single base substitution T C intron_variant MELA-AU 3 105585096 105585096 single base substitution G A intron_variant MELA-AU 3 105586542 105586542 single base substitution A C intron_variant MELA-AU 3 105587908 105587908 single base substitution G A 5_prime_UTR_variant MELA-AU 3 105587908 105587908 single base substitution G A intron_variant MELA-AU 3 105587908 105587908 single base substitution G A upstream_gene_variant MELA-AU 3 105587918 105587918 single base substitution C T 5_prime_UTR_variant MELA-AU 3 105587918 105587918 single base substitution C T intron_variant MELA-AU 3 105587918 105587918 single base substitution C T upstream_gene_variant MELA-AU 3 105587963 105587963 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 3 105587963 105587963 single base substitution G A intron_variant MELA-AU 3 105587963 105587963 single base substitution G A upstream_gene_variant MELA-AU 3 105588417 105588417 single base substitution T C upstream_gene_variant MELA-AU 3 105589063 105589064 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 3 105589091 105589091 single base substitution C T upstream_gene_variant MELA-AU 3 105589733 105589733 single base substitution G A upstream_gene_variant MELA-AU 3 105590334 105590334 single base substitution G A upstream_gene_variant MELA-AU 3 105590352 105590352 single base substitution C T upstream_gene_variant MELA-AU 3 105590422 105590422 single base substitution G T upstream_gene_variant MELA-AU 3 105590578 105590578 single base substitution C T upstream_gene_variant MELA-AU 3 105590744 105590744 single base substitution C T upstream_gene_variant MELA-AU 3 105590987 105590987 single base substitution C T upstream_gene_variant MELA-AU 3 105591014 105591016 deletion of <=200bp AAA - upstream_gene_variant MELA-AU 3 105591091 105591091 single base substitution C T upstream_gene_variant MELA-AU 3 105591495 105591495 single base substitution C T upstream_gene_variant MELA-AU 3 105591566 105591566 single base substitution C T upstream_gene_variant MELA-AU 3 105591778 105591778 single base substitution C T upstream_gene_variant MELA-AU 3 105592042 105592042 single base substitution G A upstream_gene_variant MELA-AU 3 105592372 105592372 single base substitution T G upstream_gene_variant MELA-AU 3 105592741 105592741 single base substitution C T upstream_gene_variant ORCA-IN 3 105387950 105387950 single base substitution C A intron_variant ORCA-IN 3 105387950 105387951 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant ORCA-IN 3 105400426 105400426 single base substitution G T 3_prime_UTR_variant ORCA-IN 3 105400426 105400426 single base substitution G T intron_variant ORCA-IN 3 105400426 105400426 single base substitution G T synonymous_variant P775P 2325C>A ORCA-IN 3 105421188 105421188 single base substitution C T missense_variant R570K 1709G>A ORCA-IN 3 105421188 105421188 single base substitution C T missense_variant R592K 1775G>A ORCA-IN 3 105421188 105421188 single base substitution C T upstream_gene_variant ORCA-IN 3 105435755 105435755 single base substitution G A downstream_gene_variant ORCA-IN 3 105435755 105435755 single base substitution G A intron_variant ORCA-IN 3 105444792 105444792 single base substitution C T intron_variant ORCA-IN 3 105519559 105519559 single base substitution C T intron_variant ORCA-IN 3 105549312 105549312 single base substitution T C intron_variant ORCA-IN 3 105552383 105552383 single base substitution G A intron_variant ORCA-IN 3 105590664 105590664 single base substitution G C upstream_gene_variant OV-AU 3 105370146 105370146 single base substitution C G downstream_gene_variant OV-AU 3 105371796 105371796 single base substitution G T downstream_gene_variant OV-AU 3 105374232 105374232 single base substitution A C downstream_gene_variant OV-AU 3 105376144 105376144 single base substitution C T 3_prime_UTR_variant OV-AU 3 105376144 105376144 single base substitution C T downstream_gene_variant OV-AU 3 105378754 105378754 single base substitution C A intron_variant OV-AU 3 105382073 105382073 single base substitution C T intron_variant OV-AU 3 105384075 105384075 single base substitution T G intron_variant OV-AU 3 105386575 105386575 single base substitution C G intron_variant OV-AU 3 105390643 105390643 single base substitution G C exon_variant OV-AU 3 105390643 105390643 single base substitution G C intron_variant OV-AU 3 105393983 105393983 single base substitution A G intron_variant OV-AU 3 105393983 105393983 single base substitution A G upstream_gene_variant OV-AU 3 105403394 105403394 single base substitution A C intron_variant OV-AU 3 105403394 105403394 single base substitution A C upstream_gene_variant OV-AU 3 105405046 105405046 single base substitution A G intron_variant OV-AU 3 105405046 105405046 single base substitution A G upstream_gene_variant OV-AU 3 105407866 105407866 single base substitution C G intron_variant OV-AU 3 105416762 105416762 single base substitution T C intron_variant OV-AU 3 105422640 105422640 single base substitution A C intron_variant OV-AU 3 105422640 105422640 single base substitution A C upstream_gene_variant OV-AU 3 105426796 105426796 single base substitution A G intron_variant OV-AU 3 105429074 105429074 single base substitution A C intron_variant OV-AU 3 105431800 105431800 single base substitution G C intron_variant OV-AU 3 105436730 105436730 single base substitution T G downstream_gene_variant OV-AU 3 105436730 105436730 single base substitution T G intron_variant OV-AU 3 105437871 105437871 single base substitution G C downstream_gene_variant OV-AU 3 105437871 105437871 single base substitution G C intron_variant OV-AU 3 105438992 105438992 single base substitution A C 3_prime_UTR_variant OV-AU 3 105438992 105438992 single base substitution A C missense_variant C436G 1306T>G OV-AU 3 105438992 105438992 single base substitution A C missense_variant C458G 1372T>G OV-AU 3 105441416 105441416 single base substitution G C intron_variant OV-AU 3 105442417 105442417 single base substitution T G intron_variant OV-AU 3 105444518 105444518 single base substitution T C intron_variant OV-AU 3 105445767 105445767 single base substitution G A intron_variant OV-AU 3 105448110 105448110 single base substitution T A intron_variant OV-AU 3 105451709 105451709 single base substitution T C intron_variant OV-AU 3 105452549 105452549 single base substitution G C intron_variant OV-AU 3 105458846 105458846 single base substitution C A intron_variant OV-AU 3 105463620 105463620 single base substitution A G intron_variant OV-AU 3 105463855 105463855 single base substitution T G intron_variant OV-AU 3 105466529 105466529 single base substitution A G intron_variant OV-AU 3 105470057 105470057 single base substitution C G intron_variant OV-AU 3 105472641 105472641 single base substitution A G intron_variant OV-AU 3 105481154 105481154 single base substitution C T intron_variant OV-AU 3 105487040 105487040 single base substitution G C intron_variant OV-AU 3 105491990 105491990 single base substitution T C intron_variant OV-AU 3 105498136 105498136 single base substitution T A intron_variant OV-AU 3 105526224 105526224 single base substitution G C intron_variant OV-AU 3 105530359 105530359 single base substitution G C intron_variant OV-AU 3 105534262 105534262 single base substitution A G intron_variant OV-AU 3 105536716 105536716 single base substitution C T intron_variant OV-AU 3 105539582 105539582 single base substitution C T intron_variant OV-AU 3 105558517 105558517 single base substitution G C intron_variant OV-AU 3 105559536 105559536 single base substitution G C intron_variant OV-AU 3 105563763 105563763 single base substitution C G intron_variant OV-AU 3 105566005 105566005 single base substitution A C intron_variant OV-AU 3 105568065 105568065 single base substitution T C downstream_gene_variant OV-AU 3 105568065 105568065 single base substitution T C intron_variant OV-AU 3 105569594 105569594 single base substitution C G downstream_gene_variant OV-AU 3 105569594 105569594 single base substitution C G intron_variant OV-AU 3 105587914 105587914 single base substitution G T 5_prime_UTR_variant OV-AU 3 105587914 105587914 single base substitution G T intron_variant OV-AU 3 105587914 105587914 single base substitution G T upstream_gene_variant OV-AU 3 105592847 105592847 single base substitution A T upstream_gene_variant OV-US 3 105397360 105397360 single base substitution T G downstream_gene_variant OV-US 3 105397360 105397360 single base substitution T G synonymous_variant A167A 501A>C OV-US 3 105397360 105397360 single base substitution T G synonymous_variant A43A 129A>C OV-US 3 105397360 105397360 single base substitution T G synonymous_variant A806A 2418A>C OV-US 3 105397360 105397360 single base substitution T G synonymous_variant A828A 2484A>C OV-US 3 105397360 105397360 single base substitution T G upstream_gene_variant OV-US 3 105438963 105438963 single base substitution C T 3_prime_UTR_variant OV-US 3 105438963 105438963 single base substitution C T synonymous_variant P445P 1335G>A OV-US 3 105438963 105438963 single base substitution C T synonymous_variant P467P 1401G>A PACA-AU 3 105370590 105370590 single base substitution C A downstream_gene_variant PACA-AU 3 105373940 105373940 single base substitution C T downstream_gene_variant PACA-AU 3 105380354 105380354 single base substitution G T intron_variant PACA-AU 3 105384220 105384220 single base substitution A G intron_variant PACA-AU 3 105387906 105387906 single base substitution T A intron_variant PACA-AU 3 105390481 105390481 single base substitution C T exon_variant PACA-AU 3 105390481 105390481 single base substitution C T intron_variant PACA-AU 3 105390923 105390923 single base substitution C T exon_variant PACA-AU 3 105390923 105390923 single base substitution C T intron_variant PACA-AU 3 105392987 105392987 single base substitution C G intron_variant PACA-AU 3 105392987 105392987 single base substitution C G upstream_gene_variant PACA-AU 3 105397365 105397365 single base substitution G A downstream_gene_variant PACA-AU 3 105397365 105397365 single base substitution G A missense_variant P166S 496C>T PACA-AU 3 105397365 105397365 single base substitution G A missense_variant P42S 124C>T PACA-AU 3 105397365 105397365 single base substitution G A missense_variant P805S 2413C>T PACA-AU 3 105397365 105397365 single base substitution G A missense_variant P827S 2479C>T PACA-AU 3 105397365 105397365 single base substitution G A upstream_gene_variant PACA-AU 3 105397528 105397528 single base substitution G T downstream_gene_variant PACA-AU 3 105397528 105397528 single base substitution G T intron_variant PACA-AU 3 105397528 105397528 single base substitution G T upstream_gene_variant PACA-AU 3 105400090 105400092 deletion of <=200bp AAC - 3_prime_UTR_variant PACA-AU 3 105400090 105400092 deletion of <=200bp AAC - intron_variant PACA-AU 3 105401861 105401861 single base substitution G A intron_variant PACA-AU 3 105401861 105401861 single base substitution G A upstream_gene_variant PACA-AU 3 105402328 105402328 deletion of <=200bp A - intron_variant PACA-AU 3 105402328 105402328 deletion of <=200bp A - upstream_gene_variant PACA-AU 3 105409236 105409236 single base substitution G A intron_variant PACA-AU 3 105411898 105411898 single base substitution A G intron_variant PACA-AU 3 105411980 105411980 single base substitution T A intron_variant PACA-AU 3 105413955 105413955 single base substitution T A intron_variant PACA-AU 3 105413956 105413956 single base substitution C A intron_variant PACA-AU 3 105414353 105414353 single base substitution T G intron_variant PACA-AU 3 105414355 105414355 single base substitution G T intron_variant PACA-AU 3 105417881 105417881 single base substitution G A intron_variant PACA-AU 3 105418783 105418783 single base substitution A G intron_variant PACA-AU 3 105423066 105423066 single base substitution T G intron_variant PACA-AU 3 105423066 105423066 single base substitution T G upstream_gene_variant PACA-AU 3 105425144 105425144 single base substitution T C intron_variant PACA-AU 3 105425144 105425144 single base substitution T C upstream_gene_variant PACA-AU 3 105432604 105432604 single base substitution C T intron_variant PACA-AU 3 105432791 105432791 insertion of <=200bp - A intron_variant PACA-AU 3 105432962 105432962 single base substitution T A intron_variant PACA-AU 3 105433978 105433978 single base substitution G A downstream_gene_variant PACA-AU 3 105433978 105433978 single base substitution G A intron_variant PACA-AU 3 105439524 105439524 single base substitution T A intron_variant PACA-AU 3 105441808 105441808 single base substitution C A intron_variant PACA-AU 3 105442282 105442282 single base substitution G A intron_variant PACA-AU 3 105446867 105446867 single base substitution C T intron_variant PACA-AU 3 105455215 105455215 single base substitution C T intron_variant PACA-AU 3 105457450 105457450 single base substitution C T intron_variant PACA-AU 3 105461234 105461234 single base substitution C G intron_variant PACA-AU 3 105461888 105461888 single base substitution C G intron_variant PACA-AU 3 105468303 105468303 single base substitution C T intron_variant PACA-AU 3 105470218 105470218 single base substitution G A intron_variant PACA-AU 3 105470230 105470230 single base substitution G C intron_variant PACA-AU 3 105470275 105470275 single base substitution G A intron_variant PACA-AU 3 105470368 105470368 single base substitution C G missense_variant D194H 580G>C PACA-AU 3 105470368 105470368 single base substitution C G missense_variant D221H 661G>C PACA-AU 3 105470368 105470368 single base substitution C G missense_variant D243H 727G>C PACA-AU 3 105473294 105473294 single base substitution G A intron_variant PACA-AU 3 105474071 105474071 single base substitution G A intron_variant PACA-AU 3 105474346 105474346 insertion of <=200bp - T intron_variant PACA-AU 3 105474350 105474350 single base substitution A T intron_variant PACA-AU 3 105474512 105474512 single base substitution G T intron_variant PACA-AU 3 105483271 105483271 single base substitution T C intron_variant PACA-AU 3 105484381 105484381 single base substitution C T intron_variant PACA-AU 3 105487976 105487976 single base substitution G T intron_variant PACA-AU 3 105491798 105491798 single base substitution A G intron_variant PACA-AU 3 105492739 105492739 deletion of <=200bp C - intron_variant PACA-AU 3 105494541 105494541 single base substitution C G intron_variant PACA-AU 3 105499514 105499514 single base substitution T G intron_variant PACA-AU 3 105504305 105504305 single base substitution C G intron_variant PACA-AU 3 105506660 105506660 single base substitution C A intron_variant PACA-AU 3 105507284 105507284 deletion of <=200bp A - intron_variant PACA-AU 3 105511979 105511979 single base substitution A G intron_variant PACA-AU 3 105514716 105514716 single base substitution T A intron_variant PACA-AU 3 105515607 105515607 single base substitution G A intron_variant PACA-AU 3 105516224 105516224 single base substitution T G intron_variant PACA-AU 3 105521385 105521385 single base substitution C T intron_variant PACA-AU 3 105521991 105521991 single base substitution T A intron_variant PACA-AU 3 105526462 105526462 single base substitution T A intron_variant PACA-AU 3 105529062 105529062 single base substitution G A intron_variant PACA-AU 3 105532535 105532535 deletion of <=200bp T - intron_variant PACA-AU 3 105535287 105535287 single base substitution G T intron_variant PACA-AU 3 105536457 105536457 single base substitution G T intron_variant PACA-AU 3 105537119 105537119 single base substitution T C intron_variant PACA-AU 3 105537705 105537705 single base substitution A G intron_variant PACA-AU 3 105539846 105539846 single base substitution G A intron_variant PACA-AU 3 105540668 105540668 single base substitution A G intron_variant PACA-AU 3 105543366 105543366 single base substitution G A intron_variant PACA-AU 3 105545893 105545893 single base substitution A C intron_variant PACA-AU 3 105555427 105555427 single base substitution G A intron_variant PACA-AU 3 105568792 105568792 single base substitution T C downstream_gene_variant PACA-AU 3 105568792 105568792 single base substitution T C intron_variant PACA-AU 3 105571846 105571846 single base substitution C A downstream_gene_variant PACA-AU 3 105571846 105571846 single base substitution C A intron_variant PACA-AU 3 105574035 105574035 single base substitution A C intron_variant PACA-AU 3 105576264 105576264 single base substitution G A intron_variant PACA-AU 3 105578594 105578594 single base substitution A G intron_variant PACA-AU 3 105584049 105584049 single base substitution G A intron_variant PACA-AU 3 105588780 105588780 single base substitution C T upstream_gene_variant PACA-AU 3 105589745 105589745 single base substitution G T upstream_gene_variant PACA-AU 3 105593111 105593111 single base substitution G A upstream_gene_variant PACA-CA 3 105370659 105370659 single base substitution C A downstream_gene_variant PACA-CA 3 105371917 105371917 single base substitution A C downstream_gene_variant PACA-CA 3 105373511 105373511 insertion of <=200bp - A downstream_gene_variant PACA-CA 3 105375251 105375251 single base substitution A T 3_prime_UTR_variant PACA-CA 3 105375251 105375251 single base substitution A T downstream_gene_variant PACA-CA 3 105376223 105376223 single base substitution T C 3_prime_UTR_variant PACA-CA 3 105376223 105376223 single base substitution T C downstream_gene_variant PACA-CA 3 105379016 105379016 single base substitution T C intron_variant PACA-CA 3 105379212 105379212 single base substitution T C intron_variant PACA-CA 3 105381870 105381870 single base substitution A G intron_variant PACA-CA 3 105382960 105382960 single base substitution A G intron_variant PACA-CA 3 105384136 105384136 single base substitution A G intron_variant PACA-CA 3 105384251 105384252 deletion of <=200bp AA - intron_variant PACA-CA 3 105384300 105384300 single base substitution C T intron_variant PACA-CA 3 105384960 105384960 single base substitution T C intron_variant PACA-CA 3 105387365 105387365 insertion of <=200bp - A intron_variant PACA-CA 3 105391865 105391865 single base substitution A C exon_variant PACA-CA 3 105391865 105391865 single base substitution A C intron_variant PACA-CA 3 105395117 105395117 deletion of <=200bp T - downstream_gene_variant PACA-CA 3 105395117 105395117 deletion of <=200bp T - intron_variant PACA-CA 3 105395117 105395117 deletion of <=200bp T - upstream_gene_variant PACA-CA 3 105399515 105399515 single base substitution G T downstream_gene_variant PACA-CA 3 105399515 105399515 single base substitution G T intron_variant PACA-CA 3 105404126 105404126 single base substitution T C intron_variant PACA-CA 3 105404126 105404126 single base substitution T C upstream_gene_variant PACA-CA 3 105404593 105404593 single base substitution T G intron_variant PACA-CA 3 105404593 105404593 single base substitution T G upstream_gene_variant PACA-CA 3 105408274 105408274 single base substitution T C intron_variant PACA-CA 3 105409251 105409251 insertion of <=200bp - A intron_variant PACA-CA 3 105409829 105409829 single base substitution A G intron_variant PACA-CA 3 105411514 105411514 single base substitution T C intron_variant PACA-CA 3 105415581 105415586 deletion of <=200bp TCTTTC - intron_variant PACA-CA 3 105420556 105420556 single base substitution G T intron_variant PACA-CA 3 105421062 105421062 single base substitution T C missense_variant E612G 1835A>G PACA-CA 3 105421062 105421062 single base substitution T C missense_variant E634G 1901A>G PACA-CA 3 105421062 105421062 single base substitution T C upstream_gene_variant PACA-CA 3 105421226 105421226 single base substitution C T synonymous_variant P557P 1671G>A PACA-CA 3 105421226 105421226 single base substitution C T synonymous_variant P579P 1737G>A PACA-CA 3 105421226 105421226 single base substitution C T upstream_gene_variant PACA-CA 3 105421989 105421989 single base substitution T C intron_variant PACA-CA 3 105421989 105421989 single base substitution T C upstream_gene_variant PACA-CA 3 105423387 105423387 insertion of <=200bp - T intron_variant PACA-CA 3 105423387 105423387 insertion of <=200bp - T upstream_gene_variant PACA-CA 3 105429915 105429915 single base substitution G A intron_variant PACA-CA 3 105430029 105430029 single base substitution T C intron_variant PACA-CA 3 105431781 105431781 single base substitution G A intron_variant PACA-CA 3 105432325 105432329 deletion of <=200bp TGTCC - intron_variant PACA-CA 3 105433149 105433149 single base substitution T C intron_variant PACA-CA 3 105433541 105433541 single base substitution G A intron_variant PACA-CA 3 105434343 105434343 single base substitution C G downstream_gene_variant PACA-CA 3 105434343 105434343 single base substitution C G intron_variant PACA-CA 3 105440590 105440590 single base substitution C T intron_variant PACA-CA 3 105442463 105442463 single base substitution T A intron_variant PACA-CA 3 105444915 105444915 single base substitution A G intron_variant PACA-CA 3 105446487 105446487 single base substitution C A intron_variant PACA-CA 3 105449908 105449908 single base substitution A C intron_variant PACA-CA 3 105451264 105451264 single base substitution C G intron_variant PACA-CA 3 105454736 105454736 single base substitution G T intron_variant PACA-CA 3 105455692 105455692 single base substitution A C intron_variant PACA-CA 3 105456436 105456436 single base substitution T C intron_variant PACA-CA 3 105464054 105464054 single base substitution G A intron_variant PACA-CA 3 105464388 105464388 single base substitution T C intron_variant PACA-CA 3 105468416 105468416 single base substitution A C intron_variant PACA-CA 3 105468434 105468434 single base substitution C G intron_variant PACA-CA 3 105469750 105469750 single base substitution G A intron_variant PACA-CA 3 105470228 105470228 insertion of <=200bp - AG intron_variant PACA-CA 3 105474048 105474048 single base substitution G A intron_variant PACA-CA 3 105474665 105474665 single base substitution A C intron_variant PACA-CA 3 105476393 105476393 single base substitution G A intron_variant PACA-CA 3 105477453 105477453 single base substitution G A intron_variant PACA-CA 3 105480829 105480829 single base substitution G T intron_variant PACA-CA 3 105483709 105483709 single base substitution T A intron_variant PACA-CA 3 105486062 105486062 single base substitution T G intron_variant PACA-CA 3 105487097 105487097 single base substitution G A intron_variant PACA-CA 3 105489980 105489980 single base substitution A T intron_variant PACA-CA 3 105490687 105490687 single base substitution C A intron_variant PACA-CA 3 105490795 105490795 single base substitution T A intron_variant PACA-CA 3 105490905 105490905 single base substitution C T intron_variant PACA-CA 3 105493549 105493549 single base substitution T C intron_variant PACA-CA 3 105496958 105496958 single base substitution A T intron_variant PACA-CA 3 105499047 105499047 single base substitution C G intron_variant PACA-CA 3 105499441 105499441 single base substitution T C intron_variant PACA-CA 3 105500081 105500081 single base substitution T C intron_variant PACA-CA 3 105500648 105500648 single base substitution G T intron_variant PACA-CA 3 105501431 105501431 single base substitution T C intron_variant PACA-CA 3 105501712 105501712 single base substitution C T intron_variant PACA-CA 3 105503690 105503690 single base substitution C T intron_variant PACA-CA 3 105504567 105504576 deletion of <=200bp ATGTCGTGCA - intron_variant PACA-CA 3 105505892 105505892 insertion of <=200bp - T intron_variant PACA-CA 3 105507170 105507170 single base substitution A G intron_variant PACA-CA 3 105507611 105507611 single base substitution C G intron_variant PACA-CA 3 105508519 105508519 single base substitution T C intron_variant PACA-CA 3 105508672 105508673 deletion of <=200bp TC - intron_variant PACA-CA 3 105513545 105513545 single base substitution T C intron_variant PACA-CA 3 105517815 105517815 single base substitution G T intron_variant PACA-CA 3 105521306 105521306 single base substitution A G intron_variant PACA-CA 3 105522194 105522194 single base substitution G T intron_variant PACA-CA 3 105523426 105523426 single base substitution A G intron_variant PACA-CA 3 105523501 105523501 single base substitution T C intron_variant PACA-CA 3 105525141 105525141 single base substitution A G intron_variant PACA-CA 3 105525265 105525265 single base substitution A G intron_variant PACA-CA 3 105525617 105525617 single base substitution C T intron_variant PACA-CA 3 105533938 105533938 single base substitution A C intron_variant PACA-CA 3 105537064 105537064 single base substitution A G intron_variant PACA-CA 3 105544316 105544316 single base substitution T A intron_variant PACA-CA 3 105546363 105546363 single base substitution A G intron_variant PACA-CA 3 105549333 105549334 deletion of <=200bp AG - intron_variant PACA-CA 3 105550313 105550313 single base substitution G C intron_variant PACA-CA 3 105550538 105550538 deletion of <=200bp A - intron_variant PACA-CA 3 105551928 105551928 single base substitution G A intron_variant PACA-CA 3 105552763 105552763 single base substitution T A intron_variant PACA-CA 3 105552929 105552929 single base substitution G T intron_variant PACA-CA 3 105556202 105556202 single base substitution C A intron_variant PACA-CA 3 105556424 105556424 single base substitution A G intron_variant PACA-CA 3 105561238 105561238 single base substitution A G intron_variant PACA-CA 3 105561965 105561965 single base substitution C T intron_variant PACA-CA 3 105571021 105571021 single base substitution A C downstream_gene_variant PACA-CA 3 105571021 105571021 single base substitution A C intron_variant PACA-CA 3 105573764 105573764 single base substitution C T intron_variant PACA-CA 3 105574657 105574657 deletion of <=200bp A - intron_variant PACA-CA 3 105574834 105574834 single base substitution C T intron_variant PACA-CA 3 105575321 105575321 single base substitution T A intron_variant PACA-CA 3 105588400 105588400 single base substitution C T upstream_gene_variant PACA-CA 3 105590026 105590026 single base substitution T C upstream_gene_variant PACA-CA 3 105593359 105593359 single base substitution T A upstream_gene_variant PACA-CA 3 105593360 105593360 single base substitution A G upstream_gene_variant PAEN-AU 3 105379181 105379181 single base substitution A C intron_variant PAEN-AU 3 105415060 105415060 single base substitution A C intron_variant PAEN-AU 3 105437123 105437123 single base substitution A G downstream_gene_variant PAEN-AU 3 105437123 105437123 single base substitution A G intron_variant PAEN-AU 3 105463019 105463019 single base substitution A C intron_variant PAEN-AU 3 105502008 105502008 single base substitution T C intron_variant PAEN-AU 3 105586556 105586556 single base substitution A G intron_variant PAEN-IT 3 105377208 105377208 single base substitution G T 3_prime_UTR_variant PAEN-IT 3 105377208 105377208 single base substitution G T downstream_gene_variant PAEN-IT 3 105377208 105377208 single base substitution G T exon_variant PAEN-IT 3 105387287 105387287 single base substitution G A intron_variant PAEN-IT 3 105509007 105509007 single base substitution A C intron_variant PAEN-IT 3 105509038 105509038 single base substitution A G intron_variant PAEN-IT 3 105510830 105510830 single base substitution G A intron_variant PAEN-IT 3 105537533 105537533 single base substitution A C intron_variant PBCA-DE 3 105382028 105382028 single base substitution T C intron_variant PBCA-DE 3 105389674 105389674 single base substitution C T exon_variant PBCA-DE 3 105389674 105389674 single base substitution C T intron_variant PBCA-DE 3 105395711 105395711 deletion of <=200bp A - downstream_gene_variant PBCA-DE 3 105395711 105395711 deletion of <=200bp A - intron_variant PBCA-DE 3 105395711 105395711 deletion of <=200bp A - upstream_gene_variant PBCA-DE 3 105402404 105402404 insertion of <=200bp - A intron_variant PBCA-DE 3 105402404 105402404 insertion of <=200bp - A upstream_gene_variant PBCA-DE 3 105406613 105406613 single base substitution A T intron_variant PBCA-DE 3 105411598 105411598 single base substitution T C intron_variant PBCA-DE 3 105423449 105423449 single base substitution C A intron_variant PBCA-DE 3 105423449 105423449 single base substitution C A upstream_gene_variant PBCA-DE 3 105455712 105455712 single base substitution C A intron_variant PBCA-DE 3 105456625 105456625 single base substitution C G intron_variant PBCA-DE 3 105459617 105459617 single base substitution T C intron_variant PBCA-DE 3 105466017 105466017 single base substitution G A intron_variant PBCA-DE 3 105468181 105468181 single base substitution T C intron_variant PBCA-DE 3 105473328 105473328 single base substitution A G intron_variant PBCA-DE 3 105484608 105484608 single base substitution A G intron_variant PBCA-DE 3 105495754 105495754 single base substitution G T intron_variant PBCA-DE 3 105498117 105498117 single base substitution A G intron_variant PBCA-DE 3 105501374 105501374 deletion of <=200bp A - intron_variant PBCA-DE 3 105517067 105517067 single base substitution G T intron_variant PBCA-DE 3 105525173 105525173 single base substitution G A intron_variant PBCA-DE 3 105527587 105527587 deletion of <=200bp A - intron_variant PBCA-DE 3 105538333 105538333 insertion of <=200bp - A intron_variant PBCA-DE 3 105542553 105542553 single base substitution G T intron_variant PBCA-DE 3 105546337 105546338 deletion of <=200bp TG - intron_variant PBCA-DE 3 105551162 105551162 single base substitution C T intron_variant PBCA-DE 3 105553511 105553511 single base substitution G A intron_variant PBCA-DE 3 105559113 105559113 single base substitution C G intron_variant PBCA-DE 3 105559592 105559592 single base substitution A G intron_variant PRAD-CA 3 105381870 105381870 single base substitution A G intron_variant PRAD-CA 3 105381983 105381983 single base substitution T C intron_variant PRAD-CA 3 105395002 105395002 single base substitution A G downstream_gene_variant PRAD-CA 3 105395002 105395002 single base substitution A G intron_variant PRAD-CA 3 105395002 105395002 single base substitution A G upstream_gene_variant PRAD-CA 3 105427385 105427385 single base substitution C A intron_variant PRAD-CA 3 105435893 105435893 single base substitution T C downstream_gene_variant PRAD-CA 3 105435893 105435893 single base substitution T C intron_variant PRAD-CA 3 105442552 105442552 single base substitution T C intron_variant PRAD-CA 3 105478315 105478315 single base substitution T C intron_variant PRAD-CA 3 105486309 105486309 single base substitution T C intron_variant PRAD-CA 3 105486350 105486350 single base substitution T G intron_variant PRAD-CA 3 105489563 105489563 single base substitution T A intron_variant PRAD-CA 3 105496958 105496958 single base substitution A T intron_variant PRAD-CA 3 105500842 105500842 single base substitution T C intron_variant PRAD-CA 3 105531987 105531987 single base substitution G A intron_variant PRAD-CA 3 105542490 105542490 single base substitution T G intron_variant PRAD-CA 3 105550844 105550844 single base substitution G C intron_variant PRAD-CA 3 105580353 105580353 single base substitution A G intron_variant PRAD-CA 3 105583323 105583323 single base substitution G A intron_variant PRAD-CA 3 105585939 105585939 single base substitution A G intron_variant PRAD-UK 3 105396292 105396292 single base substitution C A downstream_gene_variant PRAD-UK 3 105396292 105396292 single base substitution C A intron_variant PRAD-UK 3 105396292 105396292 single base substitution C A upstream_gene_variant PRAD-UK 3 105397714 105397714 single base substitution T G downstream_gene_variant PRAD-UK 3 105397714 105397714 single base substitution T G intron_variant PRAD-UK 3 105397714 105397714 single base substitution T G upstream_gene_variant PRAD-UK 3 105402046 105402046 single base substitution C A intron_variant PRAD-UK 3 105402046 105402046 single base substitution C A upstream_gene_variant PRAD-UK 3 105403400 105403400 single base substitution T A intron_variant PRAD-UK 3 105403400 105403400 single base substitution T A upstream_gene_variant PRAD-UK 3 105405070 105405070 single base substitution A G intron_variant PRAD-UK 3 105405070 105405070 single base substitution A G upstream_gene_variant PRAD-UK 3 105423387 105423387 single base substitution A T intron_variant PRAD-UK 3 105423387 105423387 single base substitution A T upstream_gene_variant PRAD-UK 3 105425539 105425539 insertion of <=200bp - A intron_variant PRAD-UK 3 105425539 105425539 insertion of <=200bp - A upstream_gene_variant PRAD-UK 3 105425546 105425546 insertion of <=200bp - A intron_variant PRAD-UK 3 105425546 105425546 insertion of <=200bp - A upstream_gene_variant PRAD-UK 3 105431090 105431090 single base substitution G T intron_variant PRAD-UK 3 105435007 105435007 single base substitution C T downstream_gene_variant PRAD-UK 3 105435007 105435007 single base substitution C T intron_variant PRAD-UK 3 105435870 105435870 single base substitution T C downstream_gene_variant PRAD-UK 3 105435870 105435870 single base substitution T C intron_variant PRAD-UK 3 105444302 105444302 single base substitution C G intron_variant PRAD-UK 3 105451462 105451462 single base substitution C G intron_variant PRAD-UK 3 105469554 105469554 single base substitution C A intron_variant PRAD-UK 3 105485633 105485637 deletion of <=200bp TACTT - intron_variant PRAD-UK 3 105486037 105486037 single base substitution T A intron_variant PRAD-UK 3 105486618 105486618 single base substitution T A intron_variant PRAD-UK 3 105488980 105488980 single base substitution C A intron_variant PRAD-UK 3 105499966 105499966 single base substitution A G intron_variant PRAD-UK 3 105507775 105507775 single base substitution T C intron_variant PRAD-UK 3 105516990 105516990 single base substitution T A intron_variant PRAD-UK 3 105525772 105525772 single base substitution T C intron_variant PRAD-UK 3 105527236 105527248 deletion of <=200bp TTTATTTTACAGG - intron_variant PRAD-UK 3 105530616 105530616 single base substitution C T intron_variant PRAD-UK 3 105535737 105535737 single base substitution A T intron_variant PRAD-UK 3 105547081 105547081 single base substitution C A intron_variant PRAD-UK 3 105555581 105555581 single base substitution T C intron_variant PRAD-UK 3 105557472 105557472 single base substitution T C intron_variant PRAD-UK 3 105557513 105557513 single base substitution T C intron_variant PRAD-UK 3 105587454 105587454 single base substitution G C intron_variant READ-US 3 105377883 105377883 single base substitution G A exon_variant READ-US 3 105377883 105377883 single base substitution G A synonymous_variant V175V 525C>T READ-US 3 105377883 105377883 single base substitution G A synonymous_variant V299V 897C>T READ-US 3 105377883 105377883 single base substitution G A synonymous_variant V938V 2814C>T READ-US 3 105377883 105377883 single base substitution G A synonymous_variant V960V 2880C>T READ-US 3 105439041 105439041 single base substitution C T 3_prime_UTR_variant READ-US 3 105439041 105439041 single base substitution C T synonymous_variant E419E 1257G>A READ-US 3 105439041 105439041 single base substitution C T synonymous_variant E441E 1323G>A READ-US 3 105586436 105586436 single base substitution C A splice_acceptor_variant RECA-EU 3 105383171 105383171 single base substitution A T intron_variant RECA-EU 3 105388710 105388710 single base substitution T A intron_variant RECA-EU 3 105401511 105401511 single base substitution C T intron_variant RECA-EU 3 105401511 105401511 single base substitution C T upstream_gene_variant RECA-EU 3 105403893 105403893 single base substitution C G intron_variant RECA-EU 3 105403893 105403893 single base substitution C G upstream_gene_variant RECA-EU 3 105411910 105411910 single base substitution G A intron_variant RECA-EU 3 105413999 105413999 single base substitution A C intron_variant RECA-EU 3 105434458 105434458 single base substitution T A downstream_gene_variant RECA-EU 3 105434458 105434458 single base substitution T A intron_variant RECA-EU 3 105437483 105437483 single base substitution G T downstream_gene_variant RECA-EU 3 105437483 105437483 single base substitution G T intron_variant RECA-EU 3 105465956 105465956 single base substitution G C intron_variant RECA-EU 3 105488834 105488834 single base substitution T C intron_variant RECA-EU 3 105491488 105491488 single base substitution T A intron_variant RECA-EU 3 105491685 105491685 single base substitution A G intron_variant RECA-EU 3 105492019 105492019 single base substitution G A intron_variant RECA-EU 3 105492952 105492952 single base substitution G C intron_variant RECA-EU 3 105501430 105501430 single base substitution T C intron_variant RECA-EU 3 105503285 105503285 single base substitution A G intron_variant RECA-EU 3 105511051 105511051 single base substitution A T intron_variant RECA-EU 3 105512437 105512437 single base substitution T A intron_variant RECA-EU 3 105522880 105522880 single base substitution T G intron_variant RECA-EU 3 105528999 105528999 single base substitution T G intron_variant RECA-EU 3 105540802 105540802 single base substitution T G intron_variant RECA-EU 3 105558602 105558602 single base substitution C T intron_variant RECA-EU 3 105568800 105568800 single base substitution T C downstream_gene_variant RECA-EU 3 105568800 105568800 single base substitution T C intron_variant RECA-EU 3 105581848 105581848 single base substitution C T intron_variant RECA-EU 3 105585745 105585745 single base substitution A C intron_variant RECA-EU 3 105587660 105587660 single base substitution G T 5_prime_UTR_variant RECA-EU 3 105587660 105587660 single base substitution G T intron_variant SKCA-BR 3 105370189 105370189 single base substitution G A downstream_gene_variant SKCA-BR 3 105373356 105373356 single base substitution G A downstream_gene_variant SKCA-BR 3 105374516 105374516 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 105374516 105374516 single base substitution C T downstream_gene_variant SKCA-BR 3 105376342 105376342 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 105376342 105376342 single base substitution C T downstream_gene_variant SKCA-BR 3 105377376 105377376 single base substitution T C 3_prime_UTR_variant SKCA-BR 3 105377376 105377376 single base substitution T C exon_variant SKCA-BR 3 105378474 105378474 single base substitution G A intron_variant SKCA-BR 3 105379810 105379811 deletion of <=200bp CT - intron_variant SKCA-BR 3 105381243 105381243 single base substitution T A intron_variant SKCA-BR 3 105381897 105381897 single base substitution C G intron_variant SKCA-BR 3 105384223 105384223 single base substitution C T intron_variant SKCA-BR 3 105384234 105384238 deletion of <=200bp AAAAT - intron_variant SKCA-BR 3 105384248 105384264 deletion of <=200bp AATAAATAAATAAATAT - intron_variant SKCA-BR 3 105384256 105384256 single base substitution A T intron_variant SKCA-BR 3 105384286 105384286 insertion of <=200bp - TATACAC intron_variant SKCA-BR 3 105384286 105384290 deletion of <=200bp TACAC - intron_variant SKCA-BR 3 105385215 105385215 single base substitution T G intron_variant SKCA-BR 3 105386975 105386975 single base substitution G A intron_variant SKCA-BR 3 105389182 105389182 single base substitution G A exon_variant SKCA-BR 3 105389182 105389182 single base substitution G A synonymous_variant L201L 601C>T SKCA-BR 3 105389182 105389182 single base substitution G A synonymous_variant L77L 229C>T SKCA-BR 3 105389182 105389182 single base substitution G A synonymous_variant L840L 2518C>T SKCA-BR 3 105389182 105389182 single base substitution G A synonymous_variant L862L 2584C>T SKCA-BR 3 105391991 105391991 single base substitution C A exon_variant SKCA-BR 3 105391991 105391991 single base substitution C A intron_variant SKCA-BR 3 105392011 105392011 single base substitution C A exon_variant SKCA-BR 3 105392011 105392011 single base substitution C A intron_variant SKCA-BR 3 105393581 105393581 single base substitution A C intron_variant SKCA-BR 3 105393581 105393581 single base substitution A C upstream_gene_variant SKCA-BR 3 105393606 105393606 single base substitution G A intron_variant SKCA-BR 3 105393606 105393606 single base substitution G A upstream_gene_variant SKCA-BR 3 105397322 105397322 single base substitution G A downstream_gene_variant SKCA-BR 3 105397322 105397322 single base substitution G A missense_variant S180F 539C>T SKCA-BR 3 105397322 105397322 single base substitution G A missense_variant S56F 167C>T SKCA-BR 3 105397322 105397322 single base substitution G A missense_variant S819F 2456C>T SKCA-BR 3 105397322 105397322 single base substitution G A missense_variant S841F 2522C>T SKCA-BR 3 105397322 105397322 single base substitution G A upstream_gene_variant SKCA-BR 3 105401271 105401271 single base substitution G A intron_variant SKCA-BR 3 105401271 105401271 single base substitution G A upstream_gene_variant SKCA-BR 3 105401877 105401877 insertion of <=200bp - ATGG intron_variant SKCA-BR 3 105401877 105401877 insertion of <=200bp - ATGG upstream_gene_variant SKCA-BR 3 105403715 105403715 single base substitution G C intron_variant SKCA-BR 3 105403715 105403715 single base substitution G C upstream_gene_variant SKCA-BR 3 105403741 105403741 single base substitution G C intron_variant SKCA-BR 3 105403741 105403741 single base substitution G C upstream_gene_variant SKCA-BR 3 105403762 105403762 single base substitution G C intron_variant SKCA-BR 3 105403762 105403762 single base substitution G C upstream_gene_variant SKCA-BR 3 105403940 105403940 single base substitution G A intron_variant SKCA-BR 3 105403940 105403940 single base substitution G A upstream_gene_variant SKCA-BR 3 105404171 105404171 single base substitution G C missense_variant P115A 343C>G SKCA-BR 3 105404171 105404171 single base substitution G C missense_variant P732A 2194C>G SKCA-BR 3 105404171 105404171 single base substitution G C missense_variant P754A 2260C>G SKCA-BR 3 105404171 105404171 single base substitution G C upstream_gene_variant SKCA-BR 3 105404441 105404441 single base substitution G C intron_variant SKCA-BR 3 105404441 105404441 single base substitution G C upstream_gene_variant SKCA-BR 3 105404442 105404443 deletion of <=200bp AG - intron_variant SKCA-BR 3 105404442 105404443 deletion of <=200bp AG - upstream_gene_variant SKCA-BR 3 105404496 105404496 single base substitution G C intron_variant SKCA-BR 3 105404496 105404496 single base substitution G C upstream_gene_variant SKCA-BR 3 105404682 105404682 single base substitution G T intron_variant SKCA-BR 3 105404682 105404682 single base substitution G T upstream_gene_variant SKCA-BR 3 105404721 105404721 single base substitution G C intron_variant SKCA-BR 3 105404721 105404721 single base substitution G C upstream_gene_variant SKCA-BR 3 105404877 105404877 single base substitution G A intron_variant SKCA-BR 3 105404877 105404877 single base substitution G A upstream_gene_variant SKCA-BR 3 105409491 105409491 single base substitution C A intron_variant SKCA-BR 3 105409559 105409559 single base substitution G T intron_variant SKCA-BR 3 105411238 105411238 single base substitution G A intron_variant SKCA-BR 3 105411687 105411687 single base substitution C A intron_variant SKCA-BR 3 105413574 105413574 single base substitution C T intron_variant SKCA-BR 3 105414719 105414719 single base substitution A G intron_variant SKCA-BR 3 105419969 105419969 single base substitution G A intron_variant SKCA-BR 3 105420269 105420269 single base substitution A G intron_variant SKCA-BR 3 105421320 105421320 insertion of <=200bp - GA intron_variant SKCA-BR 3 105421320 105421320 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 3 105421320 105421321 deletion of <=200bp GA - intron_variant SKCA-BR 3 105421320 105421321 deletion of <=200bp GA - upstream_gene_variant SKCA-BR 3 105424859 105424859 single base substitution C A intron_variant SKCA-BR 3 105424859 105424859 single base substitution C A upstream_gene_variant SKCA-BR 3 105429294 105429294 single base substitution G A intron_variant SKCA-BR 3 105435113 105435113 single base substitution T A downstream_gene_variant SKCA-BR 3 105435113 105435113 single base substitution T A intron_variant SKCA-BR 3 105437725 105437725 single base substitution G A downstream_gene_variant SKCA-BR 3 105437725 105437725 single base substitution G A intron_variant SKCA-BR 3 105438044 105438044 single base substitution T A downstream_gene_variant SKCA-BR 3 105438044 105438044 single base substitution T A intron_variant SKCA-BR 3 105445389 105445390 deletion of <=200bp CT - intron_variant SKCA-BR 3 105448998 105448998 single base substitution G A intron_variant SKCA-BR 3 105451355 105451355 single base substitution G A intron_variant SKCA-BR 3 105452116 105452116 single base substitution G A intron_variant SKCA-BR 3 105454261 105454261 single base substitution G A intron_variant SKCA-BR 3 105454262 105454262 single base substitution A T intron_variant SKCA-BR 3 105455450 105455450 single base substitution C T intron_variant SKCA-BR 3 105459735 105459735 single base substitution G A intron_variant SKCA-BR 3 105464056 105464056 single base substitution A C intron_variant SKCA-BR 3 105464244 105464244 single base substitution G A intron_variant SKCA-BR 3 105465418 105465418 single base substitution G A intron_variant SKCA-BR 3 105473359 105473367 deletion of <=200bp GAGAGAGAC - intron_variant SKCA-BR 3 105478734 105478734 single base substitution G A intron_variant SKCA-BR 3 105479921 105479921 single base substitution G C intron_variant SKCA-BR 3 105484696 105484696 single base substitution T G intron_variant SKCA-BR 3 105488460 105488460 single base substitution G A intron_variant SKCA-BR 3 105490068 105490068 single base substitution G T intron_variant SKCA-BR 3 105499464 105499464 single base substitution G T intron_variant SKCA-BR 3 105499501 105499501 insertion of <=200bp - TTTTTTTTTTTG intron_variant SKCA-BR 3 105499903 105499903 single base substitution G A intron_variant SKCA-BR 3 105500391 105500399 deletion of <=200bp GAATAAATA - intron_variant SKCA-BR 3 105504905 105504905 insertion of <=200bp - CGGGG intron_variant SKCA-BR 3 105504915 105504915 single base substitution A G intron_variant SKCA-BR 3 105507070 105507070 single base substitution C A intron_variant SKCA-BR 3 105507183 105507183 single base substitution G A intron_variant SKCA-BR 3 105513741 105513741 single base substitution C T intron_variant SKCA-BR 3 105518020 105518020 insertion of <=200bp - AT intron_variant SKCA-BR 3 105518021 105518021 single base substitution C A intron_variant SKCA-BR 3 105524146 105524146 insertion of <=200bp - ATT intron_variant SKCA-BR 3 105524442 105524442 single base substitution A C intron_variant SKCA-BR 3 105531539 105531539 single base substitution G A intron_variant SKCA-BR 3 105536820 105536820 single base substitution G A intron_variant SKCA-BR 3 105538123 105538123 single base substitution G A intron_variant SKCA-BR 3 105538648 105538648 single base substitution G A intron_variant SKCA-BR 3 105544939 105544939 single base substitution G A intron_variant SKCA-BR 3 105547915 105547917 deletion of <=200bp AAC - intron_variant SKCA-BR 3 105550792 105550792 single base substitution G A intron_variant SKCA-BR 3 105559535 105559535 single base substitution G A intron_variant SKCA-BR 3 105569877 105569877 single base substitution T A downstream_gene_variant SKCA-BR 3 105569877 105569877 single base substitution T A intron_variant SKCA-BR 3 105573501 105573501 single base substitution G A intron_variant SKCA-BR 3 105575213 105575213 single base substitution G A intron_variant SKCA-BR 3 105576201 105576201 single base substitution G A intron_variant SKCA-BR 3 105578292 105578292 single base substitution G A intron_variant SKCA-BR 3 105578506 105578507 deletion of <=200bp CA - intron_variant SKCA-BR 3 105581737 105581737 single base substitution A G intron_variant SKCA-BR 3 105582087 105582087 single base substitution G A intron_variant SKCA-BR 3 105583046 105583046 single base substitution T C intron_variant SKCA-BR 3 105584674 105584674 single base substitution T C intron_variant SKCA-BR 3 105584684 105584684 single base substitution A G intron_variant SKCA-BR 3 105587906 105587906 insertion of <=200bp - CG 5_prime_UTR_variant SKCA-BR 3 105587906 105587906 insertion of <=200bp - CG intron_variant SKCA-BR 3 105587906 105587906 insertion of <=200bp - CG upstream_gene_variant SKCA-BR 3 105587912 105587912 single base substitution C G 5_prime_UTR_variant SKCA-BR 3 105587912 105587912 single base substitution C G intron_variant SKCA-BR 3 105587912 105587912 single base substitution C G upstream_gene_variant SKCA-BR 3 105588339 105588339 single base substitution T G 5_prime_UTR_variant SKCA-BR 3 105588339 105588339 single base substitution T G upstream_gene_variant SKCA-BR 3 105593206 105593206 single base substitution C T upstream_gene_variant SKCM-US 3 105377928 105377928 single base substitution G A exon_variant SKCM-US 3 105377928 105377928 single base substitution G A synonymous_variant A160A 480C>T SKCM-US 3 105377928 105377928 single base substitution G A synonymous_variant A284A 852C>T SKCM-US 3 105377928 105377928 single base substitution G A synonymous_variant A923A 2769C>T SKCM-US 3 105377928 105377928 single base substitution G A synonymous_variant A945A 2835C>T SKCM-US 3 105378011 105378011 single base substitution G A exon_variant SKCM-US 3 105378011 105378011 single base substitution G A missense_variant H133Y 397C>T SKCM-US 3 105378011 105378011 single base substitution G A missense_variant H257Y 769C>T SKCM-US 3 105378011 105378011 single base substitution G A missense_variant H896Y 2686C>T SKCM-US 3 105378011 105378011 single base substitution G A missense_variant H918Y 2752C>T SKCM-US 3 105378019 105378019 single base substitution G A exon_variant SKCM-US 3 105378019 105378019 single base substitution G A missense_variant P130L 389C>T SKCM-US 3 105378019 105378019 single base substitution G A missense_variant P254L 761C>T SKCM-US 3 105378019 105378019 single base substitution G A missense_variant P893L 2678C>T SKCM-US 3 105378019 105378019 single base substitution G A missense_variant P915L 2744C>T SKCM-US 3 105378035 105378035 single base substitution G A exon_variant SKCM-US 3 105378035 105378035 single base substitution G A missense_variant P125S 373C>T SKCM-US 3 105378035 105378035 single base substitution G A missense_variant P249S 745C>T SKCM-US 3 105378035 105378035 single base substitution G A missense_variant P888S 2662C>T SKCM-US 3 105378035 105378035 single base substitution G A missense_variant P910S 2728C>T SKCM-US 3 105378050 105378050 single base substitution G A exon_variant SKCM-US 3 105378050 105378050 single base substitution G A missense_variant P120S 358C>T SKCM-US 3 105378050 105378050 single base substitution G A missense_variant P244S 730C>T SKCM-US 3 105378050 105378050 single base substitution G A missense_variant P883S 2647C>T SKCM-US 3 105378050 105378050 single base substitution G A missense_variant P905S 2713C>T SKCM-US 3 105397281 105397281 single base substitution G A downstream_gene_variant SKCM-US 3 105397281 105397281 single base substitution G A missense_variant P194S 580C>T SKCM-US 3 105397281 105397281 single base substitution G A missense_variant P70S 208C>T SKCM-US 3 105397281 105397281 single base substitution G A missense_variant P833S 2497C>T SKCM-US 3 105397281 105397281 single base substitution G A missense_variant P855S 2563C>T SKCM-US 3 105397281 105397281 single base substitution G A upstream_gene_variant SKCM-US 3 105397331 105397331 single base substitution G A downstream_gene_variant SKCM-US 3 105397331 105397331 single base substitution G A missense_variant P177L 530C>T SKCM-US 3 105397331 105397331 single base substitution G A missense_variant P53L 158C>T SKCM-US 3 105397331 105397331 single base substitution G A missense_variant P816L 2447C>T SKCM-US 3 105397331 105397331 single base substitution G A missense_variant P838L 2513C>T SKCM-US 3 105397331 105397331 single base substitution G A upstream_gene_variant SKCM-US 3 105400333 105400333 single base substitution G A 3_prime_UTR_variant SKCM-US 3 105400333 105400333 single base substitution G A intron_variant SKCM-US 3 105400333 105400333 single base substitution G A synonymous_variant I806I 2418C>T SKCM-US 3 105404212 105404212 single base substitution G A missense_variant S101F 302C>T SKCM-US 3 105404212 105404212 single base substitution G A missense_variant S718F 2153C>T SKCM-US 3 105404212 105404212 single base substitution G A missense_variant S740F 2219C>T SKCM-US 3 105404212 105404212 single base substitution G A upstream_gene_variant SKCM-US 3 105412365 105412367 deletion of <=200bp GGA - disruptive_inframe_deletion PP58P SKCM-US 3 105412365 105412367 deletion of <=200bp GGA - disruptive_inframe_deletion PP675P SKCM-US 3 105412365 105412367 deletion of <=200bp GGA - disruptive_inframe_deletion PP697P SKCM-US 3 105412371 105412371 single base substitution G A missense_variant P57L 170C>T SKCM-US 3 105412371 105412371 single base substitution G A missense_variant P674L 2021C>T SKCM-US 3 105412371 105412371 single base substitution G A missense_variant P696L 2087C>T SKCM-US 3 105412372 105412372 single base substitution G A missense_variant P57S 169C>T SKCM-US 3 105412372 105412372 single base substitution G A missense_variant P674S 2020C>T SKCM-US 3 105412372 105412372 single base substitution G A missense_variant P696S 2086C>T SKCM-US 3 105412384 105412384 single base substitution G A missense_variant R53W 157C>T SKCM-US 3 105412384 105412384 single base substitution G A missense_variant R670W 2008C>T SKCM-US 3 105412384 105412384 single base substitution G A missense_variant R692W 2074C>T SKCM-US 3 105421045 105421045 single base substitution C T missense_variant G1R 1G>A SKCM-US 3 105421045 105421045 single base substitution C T missense_variant G618R 1852G>A SKCM-US 3 105421045 105421045 single base substitution C T missense_variant G640R 1918G>A SKCM-US 3 105421053 105421053 single base substitution G A missense_variant P615L 1844C>T SKCM-US 3 105421053 105421053 single base substitution G A missense_variant P637L 1910C>T SKCM-US 3 105421053 105421053 single base substitution G A upstream_gene_variant SKCM-US 3 105421075 105421075 single base substitution G A stop_gained R608* 1822C>T SKCM-US 3 105421075 105421075 single base substitution G A stop_gained R630* 1888C>T SKCM-US 3 105421075 105421075 single base substitution G A upstream_gene_variant SKCM-US 3 105421145 105421145 single base substitution T C synonymous_variant R584R 1752A>G SKCM-US 3 105421145 105421145 single base substitution T C synonymous_variant R606R 1818A>G SKCM-US 3 105421145 105421145 single base substitution T C upstream_gene_variant SKCM-US 3 105421299 105421299 single base substitution G A missense_variant S533F 1598C>T SKCM-US 3 105421299 105421299 single base substitution G A missense_variant S555F 1664C>T SKCM-US 3 105421299 105421299 single base substitution G A upstream_gene_variant SKCM-US 3 105422976 105422976 single base substitution G A synonymous_variant S483S 1449C>T SKCM-US 3 105422976 105422976 single base substitution G A synonymous_variant S505S 1515C>T SKCM-US 3 105422976 105422976 single base substitution G A upstream_gene_variant SKCM-US 3 105438891 105438891 single base substitution C T downstream_gene_variant SKCM-US 3 105438891 105438891 single base substitution C T splice_region_variant SKCM-US 3 105438911 105438911 single base substitution G A 3_prime_UTR_variant SKCM-US 3 105438911 105438911 single base substitution G A missense_variant R463W 1387C>T SKCM-US 3 105438911 105438911 single base substitution G A missense_variant R485W 1453C>T SKCM-US 3 105438935 105438935 single base substitution G A 3_prime_UTR_variant SKCM-US 3 105438935 105438935 single base substitution G A missense_variant R455C 1363C>T SKCM-US 3 105438935 105438935 single base substitution G A missense_variant R477C 1429C>T SKCM-US 3 105439016 105439016 single base substitution G A 3_prime_UTR_variant SKCM-US 3 105439016 105439016 single base substitution G A missense_variant P428S 1282C>T SKCM-US 3 105439016 105439016 single base substitution G A missense_variant P450S 1348C>T SKCM-US 3 105470439 105470439 single base substitution A T missense_variant F170Y 509T>A SKCM-US 3 105470439 105470439 single base substitution A T missense_variant F197Y 590T>A SKCM-US 3 105470439 105470439 single base substitution A T missense_variant F219Y 656T>A SKCM-US 3 105586288 105586288 single base substitution G A missense_variant T45I 134C>T SKCM-US 3 105586288 105586288 single base substitution G A missense_variant T67I 200C>T STAD-US 3 105377982 105377982 single base substitution C T exon_variant STAD-US 3 105377982 105377982 single base substitution C T synonymous_variant A142A 426G>A STAD-US 3 105377982 105377982 single base substitution C T synonymous_variant A266A 798G>A STAD-US 3 105377982 105377982 single base substitution C T synonymous_variant A905A 2715G>A STAD-US 3 105377982 105377982 single base substitution C T synonymous_variant A927A 2781G>A STAD-US 3 105378018 105378018 single base substitution T A exon_variant STAD-US 3 105378018 105378018 single base substitution T A synonymous_variant P130P 390A>T STAD-US 3 105378018 105378018 single base substitution T A synonymous_variant P254P 762A>T STAD-US 3 105378018 105378018 single base substitution T A synonymous_variant P893P 2679A>T STAD-US 3 105378018 105378018 single base substitution T A synonymous_variant P915P 2745A>T STAD-US 3 105378039 105378039 single base substitution T C exon_variant STAD-US 3 105378039 105378039 single base substitution T C synonymous_variant P123P 369A>G STAD-US 3 105378039 105378039 single base substitution T C synonymous_variant P247P 741A>G STAD-US 3 105378039 105378039 single base substitution T C synonymous_variant P886P 2658A>G STAD-US 3 105378039 105378039 single base substitution T C synonymous_variant P908P 2724A>G STAD-US 3 105389115 105389115 single base substitution C T exon_variant STAD-US 3 105389115 105389115 single base substitution C T missense_variant R223K 668G>A STAD-US 3 105389115 105389115 single base substitution C T missense_variant R862K 2585G>A STAD-US 3 105389115 105389115 single base substitution C T missense_variant R884K 2651G>A STAD-US 3 105389115 105389115 single base substitution C T missense_variant R99K 296G>A STAD-US 3 105400357 105400357 single base substitution C T 3_prime_UTR_variant STAD-US 3 105400357 105400357 single base substitution C T intron_variant STAD-US 3 105400357 105400357 single base substitution C T synonymous_variant T798T 2394G>A STAD-US 3 105400628 105400628 single base substitution T C missense_variant T129A 385A>G STAD-US 3 105400628 105400628 single base substitution T C missense_variant T5A 13A>G STAD-US 3 105400628 105400628 single base substitution T C missense_variant T746A 2236A>G STAD-US 3 105400628 105400628 single base substitution T C missense_variant T768A 2302A>G STAD-US 3 105404299 105404299 single base substitution G T missense_variant P689Q 2066C>A STAD-US 3 105404299 105404299 single base substitution G T missense_variant P711Q 2132C>A STAD-US 3 105404299 105404299 single base substitution G T missense_variant P72Q 215C>A STAD-US 3 105404299 105404299 single base substitution G T upstream_gene_variant STAD-US 3 105422838 105422838 single base substitution T C synonymous_variant S529S 1587A>G STAD-US 3 105422838 105422838 single base substitution T C synonymous_variant S551S 1653A>G STAD-US 3 105422838 105422838 single base substitution T C upstream_gene_variant STAD-US 3 105470339 105470339 single base substitution A G synonymous_variant V203V 609T>C STAD-US 3 105470339 105470339 single base substitution A G synonymous_variant V230V 690T>C STAD-US 3 105470339 105470339 single base substitution A G synonymous_variant V252V 756T>C THCA-US 3 105464772 105464772 single base substitution G T 3_prime_UTR_variant THCA-US 3 105464772 105464772 single base substitution G T synonymous_variant T278T 834C>A THCA-US 3 105464772 105464772 single base substitution G T synonymous_variant T300T 900C>A UCEC-US 3 105377828 105377828 single base substitution G A exon_variant UCEC-US 3 105377828 105377828 single base substitution G A missense_variant R194C 580C>T UCEC-US 3 105377828 105377828 single base substitution G A missense_variant R318C 952C>T UCEC-US 3 105377828 105377828 single base substitution G A missense_variant R957C 2869C>T UCEC-US 3 105377828 105377828 single base substitution G A missense_variant R979C 2935C>T UCEC-US 3 105377967 105377967 single base substitution G A exon_variant UCEC-US 3 105377967 105377967 single base substitution G A synonymous_variant V147V 441C>T UCEC-US 3 105377967 105377967 single base substitution G A synonymous_variant V271V 813C>T UCEC-US 3 105377967 105377967 single base substitution G A synonymous_variant V910V 2730C>T UCEC-US 3 105377967 105377967 single base substitution G A synonymous_variant V932V 2796C>T UCEC-US 3 105397403 105397403 single base substitution A C downstream_gene_variant UCEC-US 3 105397403 105397403 single base substitution A C missense_variant F153C 458T>G UCEC-US 3 105397403 105397403 single base substitution A C missense_variant F29C 86T>G UCEC-US 3 105397403 105397403 single base substitution A C missense_variant F792C 2375T>G UCEC-US 3 105397403 105397403 single base substitution A C missense_variant F814C 2441T>G UCEC-US 3 105397403 105397403 single base substitution A C upstream_gene_variant UCEC-US 3 105400406 105400406 single base substitution C A 3_prime_UTR_variant UCEC-US 3 105400406 105400406 single base substitution C A intron_variant UCEC-US 3 105400406 105400406 single base substitution C A missense_variant R782M 2345G>T UCEC-US 3 105400574 105400574 single base substitution A C missense_variant L147V 439T>G UCEC-US 3 105400574 105400574 single base substitution A C missense_variant L23V 67T>G UCEC-US 3 105400574 105400574 single base substitution A C missense_variant L764V 2290T>G UCEC-US 3 105400574 105400574 single base substitution A C missense_variant L786V 2356T>G UCEC-US 3 105400581 105400581 single base substitution G A synonymous_variant S144S 432C>T UCEC-US 3 105400581 105400581 single base substitution G A synonymous_variant S20S 60C>T UCEC-US 3 105400581 105400581 single base substitution G A synonymous_variant S761S 2283C>T UCEC-US 3 105400581 105400581 single base substitution G A synonymous_variant S783S 2349C>T UCEC-US 3 105422965 105422965 single base substitution G A missense_variant A487V 1460C>T UCEC-US 3 105422965 105422965 single base substitution G A missense_variant A509V 1526C>T UCEC-US 3 105422965 105422965 single base substitution G A upstream_gene_variant UCEC-US 3 105438895 105438895 single base substitution C T downstream_gene_variant UCEC-US 3 105438895 105438895 single base substitution C T missense_variant R468Q 1403G>A UCEC-US 3 105438895 105438895 single base substitution C T missense_variant R490Q 1469G>A UCEC-US 3 105438899 105438899 single base substitution C T downstream_gene_variant UCEC-US 3 105438899 105438899 single base substitution C T missense_variant V467I 1399G>A UCEC-US 3 105438899 105438899 single base substitution C T missense_variant V489I 1465G>A UCEC-US 3 105438944 105438944 single base substitution C T 3_prime_UTR_variant UCEC-US 3 105438944 105438944 single base substitution C T missense_variant D452N 1354G>A UCEC-US 3 105438944 105438944 single base substitution C T missense_variant D474N 1420G>A UCEC-US 3 105438963 105438963 single base substitution C T 3_prime_UTR_variant UCEC-US 3 105438963 105438963 single base substitution C T synonymous_variant P445P 1335G>A UCEC-US 3 105438963 105438963 single base substitution C T synonymous_variant P467P 1401G>A UCEC-US 3 105452901 105452901 single base substitution A G 3_prime_UTR_variant UCEC-US 3 105452901 105452901 single base substitution A G synonymous_variant I385I 1155T>C UCEC-US 3 105452901 105452901 single base substitution A G synonymous_variant I407I 1221T>C UCEC-US 3 105464791 105464791 single base substitution C T 3_prime_UTR_variant UCEC-US 3 105464791 105464791 single base substitution C T missense_variant R272Q 815G>A UCEC-US 3 105464791 105464791 single base substitution C T missense_variant R294Q 881G>A UCEC-US 3 105470368 105470368 single base substitution C A missense_variant D194Y 580G>T UCEC-US 3 105470368 105470368 single base substitution C A missense_variant D221Y 661G>T UCEC-US 3 105470368 105470368 single base substitution C A missense_variant D243Y 727G>T UCEC-US 3 105470379 105470379 single base substitution T G missense_variant K190T 569A>C UCEC-US 3 105470379 105470379 single base substitution T G missense_variant K217T 650A>C UCEC-US 3 105470379 105470379 single base substitution T G missense_variant K239T 716A>C UCEC-US 3 105470463 105470463 single base substitution C A splice_acceptor_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A3J5-06 COSM3584850 c.2728C>T p.P910S Substitution - Missense 3:105659191-105659191 - S04-45633-TP COSM4991816 c.450C>T p.F150F Substitution - coding silent 3:105776512-105776512 - 522_T COSM3944623 c.666A>G p.L222L Substitution - coding silent 3:105751519-105751519 - TCGA-D3-A3C8-06 COSM3584874 c.134C>T p.T45I Substitution - Missense 3:105867444-105867444 - T3498 COSM4669529 c.185delA p.N62fs*6 Deletion - Frameshift 3:105853648-105853648 - 2334187 COSM319247 c.2442T>A p.F814L Substitution - Missense 3:105678558-105678558 - ESCC-D14 COSM5045418 c.1760C>T p.P587L Substitution - Missense 3:105702293-105702293 - TCGA-AA-A00O-01 COSM278443 c.1973G>C p.G658A Substitution - Missense 3:105693575-105693575 - TCGA-24-1423-01 COSM70022 c.2277C>G p.D759E Substitution - Missense 3:105681743-105681743 - ZZUFHECRKL-G072T COSM5432905 c.1594-10G>T p.? Unknown 3:105702469-105702469 - TCGA-AO-A03N-01 COSM445258 c.27C>A p.N9K Substitution - Missense 3:105867551-105867551 - YUSIPU COSM5397714 c.2366C>T p.P789L Substitution - Missense 3:105681541-105681541 - TCGA-GF-A6C9-06 COSM4900419 c.1822C>T p.R608* Substitution - Nonsense 3:105702231-105702231 - TCGA-OL-A5RW-01 COSM3845728 c.1630C>G p.L544V Substitution - Missense 3:105702423-105702423 - TCGA-GV-A3JZ-01 COSM1308350 c.1868C>G p.S623* Substitution - Nonsense 3:105702185-105702185 - Pat_26_A COSM5863154 c.773C>T p.P258L Substitution - Missense 3:105745989-105745989 - T3724 COSM4669527 c.658A>C p.I220L Substitution - Missense 3:105751527-105751527 - TCGA-FR-A3YO-06 COSM3584870 c.1282C>T p.P428S Substitution - Missense 3:105720172-105720172 - TCGA-FW-A3R5-06 COSM3914450 c.2021C>T p.P674L Substitution - Missense 3:105693527-105693527 - PD7386a COSM4383695 c.1547A>T p.K516I Substitution - Missense 3:105704034-105704034 - YUWIA COSM445256 c.422G>A p.R141Q Substitution - Missense 3:105776540-105776540 - P155 COSM1737562 c.2609C>G p.P870R Substitution - Missense 3:105670313-105670313 - ATL069 COSM5708407 c.112C>T p.Q38* Substitution - Nonsense 3:105867466-105867466 - Gp2D COSM2916487 c.1078T>C p.Y360H Substitution - Missense 3:105734134-105734134 - TCGA-DA-A1HV-06 COSM3584868 c.1387C>T p.R463W Substitution - Missense 3:105720067-105720067 - Au4 COSM5603081 c.2246C>T p.P749L Substitution - Missense 3:105681774-105681774 - PT37 COSM5918001 c.2573C>T p.P858L Substitution - Missense 3:105670349-105670349 - PCSI0001 COSM216606 c.1671G>A p.P557P Substitution - coding silent 3:105702382-105702382 - TCGA-AR-A251-01 COSM1484398 c.769C>T p.H257Y Substitution - Missense 3:105745993-105745993 - TCGA-ER-A19P-06 COSM200555 c.2008C>T p.R670W Substitution - Missense 3:105693540-105693540 - PCSI_0001_Pa_P COSM216606 c.1671G>A p.P557P Substitution - coding silent 3:105702382-105702382 - CP66-MEL COSM26308 c.1525C>T p.P509S Substitution - Missense 3:105704056-105704056 - TCGA-DK-A1AG-01 COSM1308349 c.2318C>G p.S773C Substitution - Missense 3:105681589-105681589 - TCGA-B7-5816-01 COSM4112014 c.2394G>A p.T798T Substitution - coding silent 3:105681513-105681513 - 1N40-VS-1T40 COSM4975388 c.742C>T p.R248W Substitution - Missense 3:105746020-105746020 - I2L-P7-Tumor-Organoid COSM5355048 c.724-10delT p.? Unknown 3:105746048-105746048 - TCGA-FR-A3YN-06 COSM3584852 c.2713C>T p.P905S Substitution - Missense 3:105659206-105659206 - TCGA-ER-A19F-06 COSM3584866 c.1407G>A p.K469K Substitution - coding silent 3:105720047-105720047 - PD6044a COSM5752384 c.1248delA p.G417fs*5 Deletion - Frameshift 3:105720206-105720206 - 16949 COSM48269 c.1857C>G p.I619M Substitution - Missense 3:105702196-105702196 - ATL144 COSM5708401 c.1031T>G p.L344* Substitution - Nonsense 3:105737211-105737211 - CHC892T COSM4794440 c.1837G>A p.G613S Substitution - Missense 3:105702216-105702216 - TCGA-GV-A3JX-01 COSM1308348 c.2776G>A p.E926K Substitution - Missense 3:105659143-105659143 - TCGA-CJ-4640-01 COSM1136906 c.2651G>T p.R884I Substitution - Missense 3:105670271-105670271 - PD7110a COSM4383691 c.2111A>G p.E704G Substitution - Missense 3:105685410-105685410 - TCGA-EE-A3JD-06 COSM4396789 c.2744C>T p.P915L Substitution - Missense 3:105659175-105659175 - TCGA-BS-A0TC-01 COSM1035972 c.650A>C p.K217T Substitution - Missense 3:105751535-105751535 - 19M COSM3584868 c.1387C>T p.R463W Substitution - Missense 3:105720067-105720067 - 2474085 COSM5880241 c.2023C>T p.P675S Substitution - Missense 3:105693525-105693525 - 4095_T COSM3944619 c.2811A>G p.A937A Substitution - coding silent 3:105659108-105659108 - TCGA-EE-A2GC-06 COSM3584854 c.2513C>T p.P838L Substitution - Missense 3:105678487-105678487 - B52-Tumor COSM1752767 c.2060C>G p.T687S Substitution - Missense 3:105685461-105685461 - TCGA-AP-A0LT-01 COSM1035957 c.1460C>T p.A487V Substitution - Missense 3:105704121-105704121 - Au1 COSM5596444 c.2388C>T p.N796N Substitution - coding silent 3:105681519-105681519 - PD7386a COSM4383687 c.2473C>T p.P825S Substitution - Missense 3:105678527-105678527 - TCGA-13-1411-01 COSM80967 c.2484A>C p.A828A Substitution - coding silent 3:105678516-105678516 - PD6415a COSM5774721 c.872G>A p.R291Q Substitution - Missense 3:105740605-105740605 - YULAN COSM1693119 c.2195C>T p.P732L Substitution - Missense 3:105685326-105685326 - PD6044a COSM5752384 c.1248delA p.G417fs*5 Deletion - Frameshift 3:105720206-105720206 - ESCC_125 COSM5641155 c.1214G>A p.G405D Substitution - Missense 3:105720240-105720240 - Gp5D COSM2916487 c.1078T>C p.Y360H Substitution - Missense 3:105734134-105734134 - TCGA-BL-A13J-01 COSM419469 c.2701G>A p.A901T Substitution - Missense 3:105659218-105659218 - LUAD-NYU160 COSM370535 c.1199G>T p.W400L Substitution - Missense 3:105734013-105734013 - 1_RESISTANT COSM1718325 c.2916C>T p.F972F Substitution - coding silent 3:105659003-105659003 - TCGA-BS-A0U7-01 COSM1035976 c.273A>T p.K91N Substitution - Missense 3:105853560-105853560 - CSCC-41-T COSM4539596 c.2707G>A p.A903T Substitution - Missense 3:105659212-105659212 - TCGA-AX-A0J1-01 COSM1035961 c.1399G>A p.V467I Substitution - Missense 3:105720055-105720055 - CHC892T COSM4794440 c.1837G>A p.G613S Substitution - Missense 3:105702216-105702216 - C125 COSM4616877 c.519C>A p.I173I Substitution - coding silent 3:105776443-105776443 - DLD1 COSM4624911 c.1451C>G p.S484C Substitution - Missense 3:105704130-105704130 - TCGA-EE-A2GL-06 COSM3584859 c.2020C>T p.P674S Substitution - Missense 3:105693528-105693528 - CSCC-31-T COSM4560487 c.845G>T p.S282I Substitution - Missense 3:105745917-105745917 - sysucc-311T COSM5465665 c.2551C>A p.L851I Substitution - Missense 3:105678449-105678449 - TCGA-AP-A059-01 COSM1035943 c.2935C>T p.R979C Substitution - Missense 3:105658984-105658984 - GC8_T COSM149438 c.1863G>A p.A621A Substitution - coding silent 3:105702190-105702190 - S01020 COSM5665174 c.2891G>T p.R964L Substitution - Missense 3:105659028-105659028 - TCGA-BS-A0UV-01 COSM1035963 c.1354G>A p.D452N Substitution - Missense 3:105720100-105720100 - TCGA-BT-A0YX-01 COSM419468 c.1314C>T p.I438I Substitution - coding silent 3:105720140-105720140 - TCGA-F5-6814-01 COSM3426846 c.2880C>T p.V960V Substitution - coding silent 3:105659039-105659039 - ATL323 COSM5708389 c.2296+1delG p.? Unknown 3:105681723-105681723 - RKO COSM2916497 c.98T>C p.V33A Substitution - Missense 3:105867480-105867480 - SNUH_G16_S1 COSM149438 c.1863G>A p.A621A Substitution - coding silent 3:105702190-105702190 - PCSI_0295_Pa_P_526 COSM3759583 c.1272C>T p.D424D Substitution - coding silent 3:105720182-105720182 - UPN04096 COSM4422158 c.? p.E386G Substitution - Missense TCGA-39-5024-01 COSM727463 c.1678G>A p.E560K Substitution - Missense 3:105702375-105702375 - TCGA-BH-A18V-01 COSM445250 c.2434G>C p.D812H Substitution - Missense 3:105678566-105678566 - TCGA-A8-A09Q-01 COSM445251 c.1753G>A p.D585N Substitution - Missense 3:105702300-105702300 - TCGA-BS-A0TE-01 COSM1035953 c.2283C>T p.S761S Substitution - coding silent 3:105681737-105681737 - TCGA-BS-A0UV-01 COSM1035959 c.1403G>A p.R468Q Substitution - Missense 3:105720051-105720051 - YUAKER COSM1693120 c.1823G>A p.R608Q Substitution - Missense 3:105702230-105702230 - Gp2D COSM4628114 c.1821T>A p.C607* Substitution - Nonsense 3:105702232-105702232 - Pat_26_B COSM5863154 c.773C>T p.P258L Substitution - Missense 3:105745989-105745989 - S00050 COSM317089 c.2666A>G p.Y889C Substitution - Missense 3:105670256-105670256 - HCC085T COSM5808199 c.2500G>A p.E834K Substitution - Missense 3:105678500-105678500 - TCGA-B5-A0JY-01 COSM1035974 c.567-1G>T p.? Unknown 3:105751619-105751619 - TCGA-IM-A3U3-01 COSM3372938 c.834C>A p.T278T Substitution - coding silent 3:105745928-105745928 - BN50 COSM1616675 c.49C>T p.P17S Substitution - Missense 3:105867529-105867529 - RK193_C01 COSM3766839 c.37C>G p.R13G Substitution - Missense 3:105867541-105867541 - Pat_41_B COSM5863152 c.971G>A p.S324N Substitution - Missense 3:105740506-105740506 - 1540951 COSM4422157 c.?_?del? p.? Unknown OSCC-GB_01060111 COSM4882479 c.1709G>A p.R570K Substitution - Missense 3:105702344-105702344 - T155 COSM402330 c.2200C>T p.R734W Substitution - Missense 3:105685321-105685321 - CSCC-45-T COSM4511021 c.855C>T p.F285F Substitution - coding silent 3:105740622-105740622 - ATL065 COSM5708405 c.154C>G p.L52V Substitution - Missense 3:105867424-105867424 - 1115161 COSM5558947 c.631C>A p.L211M Substitution - Missense 3:105751554-105751554 - 587284 COSM1199720 c.643G>A p.A215T Substitution - Missense 3:105751542-105751542 - 1633280 COSM3584868 c.1387C>T p.R463W Substitution - Missense 3:105720067-105720067 - TCGA-AA-3679-01 COSM267937 c.2659C>T p.Q887* Substitution - Nonsense 3:105670263-105670263 - 2250230 COSM5029293 c.2530C>T p.R844W Substitution - Missense 3:105678470-105678470 - RK308_C01 COSM3766837 c.672C>T p.C224C Substitution - coding silent 3:105751513-105751513 - TCGA-AM-5820-01 COSM3759581 c.1341A>C p.L447L Substitution - coding silent 3:105720113-105720113 - TCGA-66-2763-01 COSM727460 c.421C>T p.R141* Substitution - Nonsense 3:105776541-105776541 - ESO-0015 COSM1247396 c.475delG p.A159fs*58 Deletion - Frameshift 3:105776487-105776487 - HCC2998 COSM445256 c.422G>A p.R141Q Substitution - Missense 3:105776540-105776540 - 8031867 COSM3391945 c.661G>C p.D221H Substitution - Missense 3:105751524-105751524 - 424 COSM4432639 c.2410C>T p.L804F Substitution - Missense 3:105681497-105681497 - TCGA-DU-6400-01 COSM3974059 c.455A>T p.H152L Substitution - Missense 3:105776507-105776507 - CSCC-57-T COSM4534877 c.2130G>A p.K710K Substitution - coding silent 3:105685391-105685391 - HCC67T COSM1616674 c.948A>T p.L316F Substitution - Missense 3:105740529-105740529 - TCGA-AP-A056-01 COSM1035968 c.815G>A p.R272Q Substitution - Missense 3:105745947-105745947 - HCC2998 COSM2916493 c.367A>C p.R123R Substitution - coding silent 3:105853466-105853466 - T26 COSM3759581 c.1341A>C p.L447L Substitution - coding silent 3:105720113-105720113 - RK059_C01 COSM3766833 c.2280A>T p.L760F Substitution - Missense 3:105681740-105681740 - C135 COSM4618275 c.1168C>T p.H390Y Substitution - Missense 3:105734044-105734044 - 2521262 COSM5603081 c.2246C>T p.P749L Substitution - Missense 3:105681774-105681774 - 4000_T COSM3944625 c.566+5G>T p.? Unknown 3:105776391-105776391 - CCK81 COSM2916439 c.2636delA p.N879fs*71 Deletion - Frameshift 3:105670286-105670286 - DLD1 COSM267937 c.2659C>T p.Q887* Substitution - Nonsense 3:105670263-105670263 - LUAD-F00170 COSM366826 c.2201+1G>T p.? Unknown 3:105685319-105685319 - MD-326 COSM301882 c.2649C>A p.N883K Substitution - Missense 3:105670273-105670273 - PCSI_0090_Pa_X COSM3380321 c.1835A>G p.E612G Substitution - Missense 3:105702218-105702218 - 61 COSM5736695 c.1943C>A p.P648H Substitution - Missense 3:105702110-105702110 - SH-3133 COSM149438 c.1863G>A p.A621A Substitution - coding silent 3:105702190-105702190 - 107394 COSM94014 c.1685C>T p.P562L Substitution - Missense 3:105702368-105702368 - CSCC-40-T COSM4488132 c.327C>T p.I109I Substitution - coding silent 3:105853506-105853506 - BD124T COSM5491692 c.731G>A p.G244D Substitution - Missense 3:105746031-105746031 - TCGA-D3-A5GO-06 COSM3584856 c.2418C>T p.I806I Substitution - coding silent 3:105681489-105681489 - 435 COSM4433895 c.765G>A p.V255V Substitution - coding silent 3:105745997-105745997 - I2L-P7-Tumor-Organoid COSM5355045 c.558delT p.F186fs*31 Deletion - Frameshift 3:105776404-105776404 - ME044T COSM228932 c.2782G>A p.A928T Substitution - Missense 3:105659137-105659137 - 1N40-VS-1T40 COSM4975386 c.2746G>C p.E916Q Substitution - Missense 3:105659173-105659173 - TCGA-RC-A7S9-01 COSM4940268 c.866G>T p.C289F Substitution - Missense 3:105740611-105740611 - 53 COSM5734786 c.256C>T p.R86* Substitution - Nonsense 3:105853577-105853577 - HCC108T COSM3660065 c.566+4A>G p.? Unknown 3:105776392-105776392 - 1_PRE-TREATMENT COSM1718325 c.2916C>T p.F972F Substitution - coding silent 3:105659003-105659003 - TCGA-GN-A26C-01 COSM3584848 c.2752C>T p.H918Y Substitution - Missense 3:105659167-105659167 - TCGA-GF-A6C9-06 COSM4902199 c.2835C>T p.A945A Substitution - coding silent 3:105659084-105659084 - TCGA-AP-A0LG-01 COSM1035955 c.1621G>T p.D541Y Substitution - Missense 3:105702432-105702432 - HCC2998 COSM445256 c.422G>A p.R141Q Substitution - Missense 3:105776540-105776540 - TCGA-EB-A3XC-01 COSM3914452 c.1598C>T p.S533F Substitution - Missense 3:105702455-105702455 - TCGA-GC-A3I6-01 COSM1308346 c.2905G>A p.E969K Substitution - Missense 3:105659014-105659014 - S00837 COSM309875 c.75T>C p.I25I Substitution - coding silent 3:105867503-105867503 - ATL065 COSM5708411 c.7_22del16 p.N3fs*50 Deletion - Frameshift 3:105867556-105867571 - S04-45633-TP COSM4991812 c.2716C>T p.P906S Substitution - Missense 3:105659203-105659203 - RK146_C01 COSM3702273 c.555T>G p.F185L Substitution - Missense 3:105776407-105776407 - TCGA-CG-5721-01 COSM4112015 c.2236A>G p.T746A Substitution - Missense 3:105681784-105681784 - RK023_C01 COSM1632685 c.1061A>C p.K354T Substitution - Missense 3:105737181-105737181 - AOCS-142-3-5 COSM4136457 c.1306T>G p.C436G Substitution - Missense 3:105720148-105720148 - TCGA-HU-8602-01 COSM4112019 c.1587A>G p.S529S Substitution - coding silent 3:105703994-105703994 - ATL325 COSM1693118 c.2902C>T p.R968* Substitution - Nonsense 3:105659017-105659017 - T3049 COSM4669525 c.1844C>T p.P615L Substitution - Missense 3:105702209-105702209 - TCGA-AO-A03L-01 COSM445257 c.229A>G p.I77V Substitution - Missense 3:105853604-105853604 - TCGA-D5-6928-01 COSM1417543 c.2888C>T p.A963V Substitution - Missense 3:105659031-105659031 - T55 COSM4383691 c.2111A>G p.E704G Substitution - Missense 3:105685410-105685410 - TCGA-FD-A3B6-01 COSM1308347 c.2824G>C p.E942Q Substitution - Missense 3:105659095-105659095 - 2474086 COSM5880241 c.2023C>T p.P675S Substitution - Missense 3:105693525-105693525 - Pat_41_B COSM5863150 c.2732G>A p.R911H Substitution - Missense 3:105659187-105659187 - U251 COSM1670399 c.2470C>T p.P824S Substitution - Missense 3:105678530-105678530 - 100960 COSM94013 c.2095A>G p.R699G Substitution - Missense 3:105685426-105685426 - TCGA-BR-6452-01 COSM4112012 c.2651G>A p.R884K Substitution - Missense 3:105670271-105670271 - TCGA-A7-A0CJ-01 COSM445256 c.422G>A p.R141Q Substitution - Missense 3:105776540-105776540 - TARGET-30-PATINJ COSM1283937 c.886_900del15 p.A296_V300delAIGYV Deletion - In frame 3:105740577-105740591 - PT13 COSM5895671 c.1601C>T p.P534L Substitution - Missense 3:105702452-105702452 - YULONE COSM5397715 c.2345G>A p.R782K Substitution - Missense 3:105681562-105681562 - TCGA-AM-5820-01 COSM3759583 c.1272C>T p.D424D Substitution - coding silent 3:105720182-105720182 - 587376 COSM1199721 c.405A>C p.E135D Substitution - Missense 3:105853428-105853428 - CSCC-27-T COSM2916446 c.2312C>T p.S771L Substitution - Missense 3:105681595-105681595 - SNU-C4 COSM4653585 c.1077A>C p.Q359H Substitution - Missense 3:105734135-105734135 - 42 COSM1716932 c.2925_2926insC p.V976fs*>8 Insertion - Frameshift 3:105658993-105658994 - TCGA-D9-A6EC-06 COSM4405496 c.1752A>G p.R584R Substitution - coding silent 3:105702301-105702301 - TCGA-BS-A0UV-01 COSM1035945 c.2796C>T p.V932V Substitution - coding silent 3:105659123-105659123 - TCGA-12-0688 COSM2153905 c.2228T>C p.L743P Substitution - Missense 3:105681792-105681792 - Gp2D COSM4628112 c.1902T>A p.S634S Substitution - coding silent 3:105702151-105702151 - TCGA-A8-A0A6-01 COSM3845730 c.1515A>C p.P505P Substitution - coding silent 3:105704066-105704066 - HCC108 COSM3660065 c.566+4A>G p.? Unknown 3:105776392-105776392 - TCGA-IR-A3LA-01 COSM4845050 c.2847G>A p.V949V Substitution - coding silent 3:105659072-105659072 - 134421 COSM319246 c.1959+1G>T p.? Unknown 3:105702093-105702093 - CSCC-27-T COSM4471834 c.1744C>T p.P582S Substitution - Missense 3:105702309-105702309 - HCC60T COSM1616675 c.49C>T p.P17S Substitution - Missense 3:105867529-105867529 - TCGA-CZ-5458-01 COSM479187 c.1005G>A p.R335R Substitution - coding silent 3:105737237-105737237 - PT48 COSM5931245 c.2930C>T p.S977F Substitution - Missense 3:105658989-105658989 - 2521259 COSM5889897 c.2572C>T p.P858S Substitution - Missense 3:105670350-105670350 - TCGA-AA-3664-01 COSM265674 c.1960G>A p.V654I Substitution - Missense 3:105693588-105693588 - CSCC-4-T COSM4564446 c.119_120CC>TT p.A40V Substitution - Missense 3:105867458-105867459 - TCGA-EE-A29L-06 COSM3584872 c.590T>A p.F197Y Substitution - Missense 3:105751595-105751595 - ATL260 COSM5708407 c.112C>T p.Q38* Substitution - Nonsense 3:105867466-105867466 - WA33 COSM239167 c.2707G>T p.A903S Substitution - Missense 3:105659212-105659212 - HCC60 COSM1616675 c.49C>T p.P17S Substitution - Missense 3:105867529-105867529 - sysucc-1370T COSM5471639 c.732C>T p.G244G Substitution - coding silent 3:105746030-105746030 - YUKAT COSM5397718 c.168G>A p.V56V Substitution - coding silent 3:105867410-105867410 - ATL059 COSM5708407 c.112C>T p.Q38* Substitution - Nonsense 3:105867466-105867466 - TCGA-22-4599-01 COSM727458 c.31G>C p.G11R Substitution - Missense 3:105867547-105867547 - QC2-25-T2 COSM5653245 c.857G>A p.R286Q Substitution - Missense 3:105740620-105740620 - PD8935a COSM4383689 c.2222G>A p.C741Y Substitution - Missense 3:105681798-105681798 - ATL382 COSM5708391 c.1960-1G>T p.? Unknown 3:105693589-105693589 - ESCC_8 COSM5623509 c.1835_1836insG p.S614fs*18 Insertion - Frameshift 3:105702217-105702218 - 8066470 COSM3780618 c.2479C>T p.P827S Substitution - Missense 3:105678521-105678521 - PCSI_0001_Pa_X COSM216606 c.1671G>A p.P557P Substitution - coding silent 3:105702382-105702382 - SM-4AX83 COSM5953260 c.2487G>A p.R829R Substitution - coding silent 3:105678513-105678513 - SNUH_G76_S1 COSM3759583 c.1272C>T p.D424D Substitution - coding silent 3:105720182-105720182 - LUAD-5V8LT COSM402330 c.2200C>T p.R734W Substitution - Missense 3:105685321-105685321 - PD9218a COSM5944997 c.406C>T p.Q136* Substitution - Nonsense 3:105853427-105853427 - CHEWS030 COSM4583757 c.1356T>C p.D452D Substitution - coding silent 3:105720098-105720098 - 2492730 COSM5728995 c.756C>T p.F252F Substitution - coding silent 3:105746006-105746006 - S10-47754-TP COSM4991810 c.2892G>A p.R964R Substitution - coding silent 3:105659027-105659027 - PT55 COSM5941771 c.1234C>T p.R412C Substitution - Missense 3:105720220-105720220 - QC2-32-T2 COSM4419180 c.2613T>C p.P871P Substitution - coding silent 3:105670309-105670309 - tumor_4135350 COSM1161431 c.1829T>C p.L610P Substitution - Missense 3:105702224-105702224 - 17060 COSM48270 c.730G>T p.G244C Substitution - Missense 3:105746032-105746032 - TCGA-37-4141-01 COSM727462 c.1342G>T p.D448Y Substitution - Missense 3:105720112-105720112 - TCGA-D1-A15X-01 COSM1035966 c.1155T>C p.I385I Substitution - coding silent 3:105734057-105734057 - 112521 COSM95584 c.2542G>T p.G848* Substitution - Nonsense 3:105678458-105678458 - 53 COSM5734784 c.1204-1G>T p.? Unknown 3:105720251-105720251 - HDC54 COSM4636442 c.2710A>T p.R904* Substitution - Nonsense 3:105659209-105659209 - TCGA-AN-A046-01 COSM3845732 c.68T>G p.L23W Substitution - Missense 3:105867510-105867510 - T3658 COSM4669523 c.1978C>T p.L660F Substitution - Missense 3:105693570-105693570 - DLD1 COSM4624913 c.23G>T p.R8I Substitution - Missense 3:105867555-105867555 - TCGA-AX-A0J0-01 COSM1035951 c.2290T>G p.L764V Substitution - Missense 3:105681730-105681730 - TCGA-EE-A3JD-06 COSM4396808 c.2563C>T p.P855S Substitution - Missense 3:105678437-105678437 - ATL038 COSM5708403 c.871C>T p.R291* Substitution - Nonsense 3:105740606-105740606 - SNUH_G76_S1 COSM4419180 c.2613T>C p.P871P Substitution - coding silent 3:105670309-105670309 - S04-45633-TP COSM4991814 c.2003C>T p.P668L Substitution - Missense 3:105693545-105693545 - TCGA-37-5819-01 COSM727464 c.2645C>G p.T882S Substitution - Missense 3:105670277-105670277 - LS411 COSM2916463 c.1518C>T p.P506P Substitution - coding silent 3:105704063-105704063 - ZZUFHECRKL-G072T COSM5432942 c.1594-6C>T p.? Unknown 3:105702465-105702465 - S00050 COSM317089 c.2666A>G p.Y889C Substitution - Missense 3:105670256-105670256 - B52 COSM1752767 c.2060C>G p.T687S Substitution - Missense 3:105685461-105685461 - SNUH_G15_S1 COSM2916444 c.2338C>G p.P780A Substitution - Missense 3:105681569-105681569 - TCGA-QB-A6FS-06 COSM3914454 c.1363C>T p.R455C Substitution - Missense 3:105720091-105720091 - ATL154 COSM5708395 c.1208C>T p.S403L Substitution - Missense 3:105720246-105720246 - TCGA-BR-6452-01 COSM4112010 c.2724A>G p.P908P Substitution - coding silent 3:105659195-105659195 - TCGA-BH-A0AV-01 COSM445252 c.1686T>A p.P562P Substitution - coding silent 3:105702367-105702367 - TCGA-P4-A5EB-01 COSM3992619 c.392G>T p.R131I Substitution - Missense 3:105853441-105853441 - PD6406a COSM5768918 c.1464G>A p.Q488Q Substitution - coding silent 3:105704117-105704117 - BD189T COSM5508301 c.2091A>T p.K697N Substitution - Missense 3:105685430-105685430 - T32 COSM1035961 c.1399G>A p.V467I Substitution - Missense 3:105720055-105720055 - tumor_4104893 COSM3357626 c.1163G>A p.C388Y Substitution - Missense 3:105734049-105734049 - 71M COSM5595716 c.1301G>A p.R434K Substitution - Missense 3:105720153-105720153 - HOP-92 COSM1670399 c.2470C>T p.P824S Substitution - Missense 3:105678530-105678530 - TCGA-B5-A11E-01 COSM1035949 c.2345G>T p.R782M Substitution - Missense 3:105681562-105681562 - HCC11T COSM131304 c.1600C>T p.P534S Substitution - Missense 3:105702453-105702453 - 234 COSM1035943 c.2935C>T p.R979C Substitution - Missense 3:105658984-105658984 - TCGA-CG-4305-01 COSM2916437 c.2781G>A p.A927A Substitution - coding silent 3:105659138-105659138 - YURAY COSM5397716 c.1946T>C p.L649S Substitution - Missense 3:105702107-105702107 - T613 COSM4669521 c.2806delA p.I936fs*14 Deletion - Frameshift 3:105659113-105659113 - SNUH_G10_S1 COSM3759583 c.1272C>T p.D424D Substitution - coding silent 3:105720182-105720182 - TCGA-IH-A3EA-01 COSM3584857 c.2153C>T p.S718F Substitution - Missense 3:105685368-105685368 - TCGA-BH-A0B5-01 COSM445253 c.1210G>A p.D404N Substitution - Missense 3:105720244-105720244 - TCGA-B6-A0IK-01 COSM445255 c.952C>G p.Q318E Substitution - Missense 3:105740525-105740525 - TCGA-BR-4184-01 COSM4112017 c.2066C>A p.P689Q Substitution - Missense 3:105685455-105685455 - 722_T COSM3944621 c.1288G>C p.D430H Substitution - Missense 3:105720166-105720166 - 16246 COSM5615150 c.593G>T p.R198I Substitution - Missense 3:105751592-105751592 - ATL239 COSM5708399 c.1088A>G p.Y363C Substitution - Missense 3:105734124-105734124 - TCGA-C5-A1M9-01 COSM4830985 c.799G>A p.D267N Substitution - Missense 3:105745963-105745963 - ATL015 COSM5708409 c.91delG p.D31fs*27 Deletion - Frameshift 3:105867487-105867487 - TCGA-Q1-A73O-01 COSM4834562 c.855C>G p.F285L Substitution - Missense 3:105740622-105740622 - ATL382 COSM5708387 c.2581G>T p.D861Y Substitution - Missense 3:105670341-105670341 - TCGA-AN-A046-01 COSM402330 c.2200C>T p.R734W Substitution - Missense 3:105685321-105685321 - TCGA-BS-A0UF-01 COSM1035970 c.661G>T p.D221Y Substitution - Missense 3:105751524-105751524 - TCGA-BH-A0HF-01 COSM3845723 c.2918C>T p.P973L Substitution - Missense 3:105659001-105659001 - TCGA-AN-A046-01 COSM3845726 c.1857C>A p.I619I Substitution - coding silent 3:105702196-105702196 - sysucc-1397T COSM5474529 c.2936G>A p.R979H Substitution - Missense 3:105658983-105658983 - GC8_T COSM149439 c.1396A>G p.N466D Substitution - Missense 3:105720058-105720058 - TCGA-BR-8589-01 COSM4112008 c.2745A>T p.P915P Substitution - coding silent 3:105659174-105659174 - TCGA-BH-A0DK-01 COSM445254 c.1073A>G p.E358G Substitution - Missense 3:105734139-105734139 - CCK81 COSM200559 c.1342G>A p.D448N Substitution - Missense 3:105720112-105720112 - ATL112 COSM5708393 c.1930C>T p.R644C Substitution - Missense 3:105702123-105702123 - PD6786a COSM4383693 c.1597T>A p.S533T Substitution - Missense 3:105702456-105702456 - RK308_C01 COSM3766835 c.1906C>T p.P636S Substitution - Missense 3:105702147-105702147 - ccRCC-12 COSM1660996 c.2070A>C p.L690F Substitution - Missense 3:105685451-105685451 - TCGA-CG-4442-01 COSM4112021 c.690T>C p.V230V Substitution - coding silent 3:105751495-105751495 - TCGA-34-5231-01 COSM727461 c.1219G>T p.G407C Substitution - Missense 3:105720235-105720235 - TCGA-AP-A056-01 COSM80968 c.1335G>A p.P445P Substitution - coding silent 3:105720119-105720119 - PD6156a COSM4383697 c.1106C>T p.T369I Substitution - Missense 3:105734106-105734106 - TCGA-G4-6588-01 COSM1417546 c.1522C>T p.P508S Substitution - Missense 3:105704059-105704059 - TCGA-GF-A6C9-06 COSM4669525 c.1844C>T p.P615L Substitution - Missense 3:105702209-105702209 - TCGA-12-0688-01 COSM2153905 c.2228T>C p.L743P Substitution - Missense 3:105681792-105681792 - PD6982a COSM4383699 c.43G>A p.G15R Substitution - Missense 3:105867535-105867535 - TCGA-F5-6814-01 COSM3426848 c.1257G>A p.E419E Substitution - coding silent 3:105720197-105720197 - BD124T COSM5491694 c.420-7C>T p.? Unknown 3:105776549-105776549 - TCGA-BR-4184-01 COSM4112014 c.2394G>A p.T798T Substitution - coding silent 3:105681513-105681513 - ATL302 COSM5708397 c.1125T>G p.I375M Substitution - Missense 3:105734087-105734087 - BCM723T COSM5348449 c.724-4_724-3insT p.? Unknown 3:105746041-105746042 - RK126_C01 COSM1632684 c.1300A>G p.R434G Substitution - Missense 3:105720154-105720154 - HCC67 COSM1616674 c.948A>T p.L316F Substitution - Missense 3:105740529-105740529 - TCGA-26-5135 COSM2157055 c.1203+2_1203+4delTAT p.? Unknown 3:105734005-105734007 - TCGA-13-0723-01 COSM80968 c.1335G>A p.P445P Substitution - coding silent 3:105720119-105720119 - 1540953 COSM3584868 c.1387C>T p.R463W Substitution - Missense 3:105720067-105720067 - ME009T COSM222826 c.1147G>A p.V383I Substitution - Missense 3:105734065-105734065 - ATL124 COSM5708385 c.2651_2652delGA p.R884fs*6 Deletion - Frameshift 3:105670270-105670271 - BN50T COSM1616675 c.49C>T p.P17S Substitution - Missense 3:105867529-105867529 - CSCC-60-T COSM4462730 c.1259C>T p.P420L Substitution - Missense 3:105720195-105720195 - TCGA-GN-A262-06 COSM3584857 c.2153C>T p.S718F Substitution - Missense 3:105685368-105685368 - TCGA-DG-A2KK-01 COSM4828193 c.2494C>T p.L832F Substitution - Missense 3:105678506-105678506 - OSCC-GB_01060111 COSM4882368 c.2325C>A p.P775P Substitution - coding silent 3:105681582-105681582 - TCGA-39-5035-01 COSM727459 c.400G>A p.E134K Substitution - Missense 3:105853433-105853433 - TCGA-BH-A0C1-01 COSM445249 c.2483C>T p.A828V Substitution - Missense 3:105678517-105678517 - SNUH_G76_S1 COSM3759581 c.1341A>C p.L447L Substitution - coding silent 3:105720113-105720113 - YUKLAB COSM1693118 c.2902C>T p.R968* Substitution - Nonsense 3:105659017-105659017 - TCGA-Q1-A5R3-01 COSM4834041 c.2363A>G p.N788S Substitution - Missense 3:105681544-105681544 - C70 COSM4619543 c.1756C>G p.P586A Substitution - Missense 3:105702297-105702297 - TCGA-D3-A2JO-06 COSM3584864 c.1449C>T p.S483S Substitution - coding silent 3:105704132-105704132 - TCGA-D1-A17Q-01 COSM1035947 c.2441T>G p.F814C Substitution - Missense 3:105678559-105678559 - TCGA-G2-A2EC-01 COSM1308351 c.960G>C p.L320L Substitution - coding silent 3:105740517-105740517 - TCGA-D3-A1Q5-06 COSM3584862 c.1852G>A p.G618R Substitution - Missense 3:105702201-105702201 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.430557;Hs.430589 3q13.11 604491

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.M742Sfs*2 c.2225delT 3 105400639 RCCC A G Missense p.L610P c.1829T>C 3 105421068 DLBCL A G Missense p.L743P c.2228T>C 3 105400636 GBM A G Synonymous p.I25I c.75T>C 3 105586347 SCLC A - IntronicDeletion . c.2055-11delT 3 105404321 STAD AT - IntronicDeletion . c.2570-1366_2570-1365delTA 3 105390562 CLL A T Missense p.F197Y c.590T>A 3 105470439 CM A T Missense p.F814L c.2442T>A 3 105397402 SCLC A T Synonymous p.P562P c.1686T>A 3 105421211 BRCA C A 3-UTRSNV . c.2946+3287G>T 3 105374530 HC CACATAGCCAATGGC - InFrameDeletion p.A296_V300delAIGYV c.886_900delGCCATTGGCTATGTG 3 105459421 NB C A Missense p.D448Y c.1342G>T 3 105438956 LUSC C A Missense p.D774Y c.2320G>T 3 105400431 LUAD C A Missense p.G244C c.730G>T 3 105464876 LUAD C A Missense p.G323V c.968G>T 3 105459353 COREAD C A Missense p.G407C c.1219G>T 3 105439079 LUSC C A Missense p.R198I c.593G>T 3 105470436 NSCLC C A Missense p.R884I c.2651G>T 3 105389115 RCCC C A SpliceDonorSNV . c.1959+1G>T 3 105420937 SCLC C A Synonymous p.V255V c.765G>T 3 105464841 LUAD C - Frameshift p.A159Qfs*58 c.475delG 3 105495331 ESCA C G Missense p.C345S c.1034G>C 3 105456052 LUAD C G Missense p.D812H c.2434G>C 3 105397410 BRCA C G Missense p.E942Q c.2824G>C 3 105377939 BLCA C G Missense p.G11R c.31G>C 3 105586391 LUSC C G Missense p.G658A c.1973G>C 3 105412419 COREAD C G Synonymous p.L320L c.960G>C 3 105459361 BLCA C - IntronicDeletion . c.2428+24delG 3 105400299 STAD C T 3-UTRSNV . c.2946+2019G>A 3 105375798 HC C T 3-UTRSNV . c.2946+40G>A 3 105377777 CM C T Missense p.A901T c.2701G>A 3 105378062 BLCA C T Missense p.A928T c.2782G>A 3 105377981 CM C T Missense p.C594Y c.1781G>A 3 105421116 COREAD C T Missense p.D404N c.1210G>A 3 105439088 BRCA C T Missense p.D404N c.1210G>A 3 105439088 CM C T Missense p.D585N c.1753G>A 3 105421144 BRCA C T Missense p.E130K c.388G>A 3 105572289 MM C T Missense p.E134K c.400G>A 3 105572277 LUSC C T Missense p.E560K c.1678G>A 3 105421219 LUSC C T Missense p.E926K c.2776G>A 3 105377987 BLCA C T Missense p.E969K c.2905G>A 3 105377858 BLCA C T Missense p.G618R c.1852G>A 3 105421045 CM C T Missense p.R141Q c.422G>A 3 105495384 BRCA C T Missense p.R325K c.974G>A 3 105459347 CM C T Missense p.V383I c.1147G>A 3 105452909 CM C T Missense p.V654I c.1960G>A 3 105412432 COREAD C T Synonymous p.A927A c.2781G>A 3 105377982 STAD C T Synonymous p.K469K c.1407G>A 3 105438891 CM C T Synonymous p.K753K c.2259G>A 3 105400605 LUAD C T Synonymous p.P445P c.1335G>A 3 105438963 OV C T Synonymous p.P557P c.1671G>A 3 105421226 PAAD C T Synonymous p.T798T c.2394G>A 3 105400357 STAD G A Missense p.A487V c.1460C>T 3 105422965 UCEC G A Missense p.A828V c.2483C>T 3 105397361 BRCA G A Missense p.H257Y c.769C>T 3 105464837 BRCA G A Missense p.H918Y c.2752C>T 3 105378011 CM G A Missense p.P674S c.2020C>T 3 105412372 CM G A Missense p.P807S c.2419C>T 3 105400332 CM G A Missense p.P838L c.2513C>T 3 105397331 CM G A Missense p.P855S c.2563C>T 3 105397281 CM G A Missense p.P910S c.2728C>T 3 105378035 CM G A Missense p.P915L c.2744C>T 3 105378019 CM G A Missense p.R463W c.1387C>T 3 105438911 CM G A Missense p.R670W c.2008C>T 3 105412384 CM G A Missense p.R734W c.2200C>T 3 105404165 CM G A Missense p.R911C c.2731C>T 3 105378032 LUAD G A Missense p.S147F c.440C>T 3 105495366 CM G A Missense p.S532F c.1595C>T 3 105421302 CM G A Missense p.S718F c.2153C>T 3 105404212 CM G A Missense p.S841F c.2522C>T 3 105397322 CM G A Missense p.T45I c.134C>T 3 105586288 CM G A Nonsense p.Q887* c.2659C>T 3 105389107 COREAD G A Nonsense p.R141* c.421C>T 3 105495385 LUSC G A Synonymous p.C224C c.672C>T 3 105470357 MM G A Synonymous p.I438I c.1314C>T 3 105438984 BLCA G A Synonymous p.S277S c.831C>T 3 105464775 BRCA G A Synonymous p.S483S c.1449C>T 3 105422976 CM G A Synonymous p.S761S c.2283C>T 3 105400581 UCEC G C Missense p.D759E c.2277C>G 3 105400587 OV G C Missense p.I619M c.1857C>G 3 105421040 LUAD G C Missense p.Q318E c.952C>G 3 105459369 BRCA G C Missense p.S773C c.2318C>G 3 105400433 BLCA G C Missense p.T882S c.2645C>G 3 105389121 LUSC G C Nonsense p.S623* c.1868C>G 3 105421029 BLCA G C Synonymous p.L497L c.1491C>G 3 105422934 CM GG AA Missense p.P906S c.2715_2716delinsTT 3 105378047 CM GG AA Missense p.S583F c.1748_1749delinsTT 3 105421148 CM GGA - InFrameDeletion p.P676delP c.2025_2027delTCC 3 105412365 CM G T Missense p.L486I c.1456C>A 3 105422969 STAD G T Missense p.N9K c.27C>A 3 105586395 BRCA G T Missense p.P858T c.2572C>A 3 105389194 CM G T Synonymous p.T278T c.834C>A 3 105464772 THCA T A IntronicSNV . c.2570-2235A>T 3 105391431 DLBCL T A Missense p.H152L c.455A>T 3 105495351 LGG T A Synonymous p.T620T c.1860A>T 3 105421037 HNSC T C IntronicSNV . c.2570-1998A>G 3 105391194 DLBCL T C Missense p.D340G c.1019A>G 3 105456067 LUAD T C Missense p.E358G c.1073A>G 3 105452983 BRCA T C Missense p.I77V c.229A>G 3 105572448 BRCA T C Missense p.N69S c.206A>G 3 105572471 HNSC T C Missense p.R434G c.1300A>G 3 105438998 HC T C Missense p.Y329C c.986A>G 3 105456100 HNSC T C Missense p.Y889C c.2666A>G 3 105389100 SCLC TG AA Missense p.P492L c.1475_1476delinsTT 3 105422949 CM T G IntronicSNV . c.1407+7538A>C 3 105431353 CLL T G Missense p.K217T c.650A>C 3 105470379 UCEC T G Missense p.K354T c.1061A>C 3 105456025 HC T G Missense p.Y133S c.398A>C 3 105572279 MM T G Synonymous p.A828A c.2484A>C 3 105397360 OV