Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 2 240085574 240085574 + Missense_Mutation SNP A A T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr2:240085574A>T c.536T>A c.(535-537)gTc>gAc p.V179D BLCA 2 240036766 240036766 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr2:240036766C>G c.1759G>C c.(1759-1761)Gag>Cag p.E587Q BLCA 2 240061422 240061422 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr2:240061422C>T c.936G>A c.(934-936)gcG>gcA p.A312A BLCA 2 240061422 240061422 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 g.chr2:240061422C>T c.936G>A c.(934-936)gcG>gcA p.A312A BLCA 2 240078424 240078424 + Silent SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 g.chr2:240078424G>A c.657C>T c.(655-657)agC>agT p.S219S BLCA 2 240111708 240111708 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr2:240111708C>T c.160G>A c.(160-162)Gac>Aac p.D54N BRCA 2 239975187 239975187 + Silent SNP G G A TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr2:239975187G>A c.3184C>T c.(3184-3186)Ctg>Ttg p.L1062L BRCA 2 240011772 240011772 + Missense_Mutation SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 g.chr2:240011772C>T c.2306G>A c.(2305-2307)gGg>gAg p.G769E BRCA 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 g.chr2:240016733G>T c.2238C>A c.(2236-2238)ttC>ttA p.F746L BRCA 2 240033318 240033318 + Missense_Mutation SNP C C A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 g.chr2:240033318C>A c.1867G>T c.(1867-1869)Ggc>Tgc p.G623C BRCA 2 240056103 240056103 + Missense_Mutation SNP G G C TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr2:240056103G>C c.1132C>G c.(1132-1134)Ctt>Gtt p.L378V BRCA 2 240056337 240056337 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr2:240056337C>T c.981G>A c.(979-981)acG>acA p.T327T BRCA 2 240066299 240066299 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr2:240066299delT c.845delA c.(844-846)aagfs p.K282fs BRCA 2 240066378 240066378 + Silent SNP G G A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 g.chr2:240066378G>A c.766C>T c.(766-768)Cta>Tta p.L256L CESC 2 240002874 240002874 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr2:240002874G>A c.2652C>T c.(2650-2652)ccC>ccT p.P884P CESC 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 g.chr2:240016733G>T c.2238C>A c.(2236-2238)ttC>ttA p.F746L CESC 2 240098187 240098187 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 g.chr2:240098187G>A c.412C>T c.(412-414)Cgc>Tgc p.R138C CHOL 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-YR-A95A-01A-12D-A417-09 TCGA-YR-A95A-10A-01D-A41A-09 g.chr2:240016733G>T c.2238C>A c.(2236-2238)ttC>ttA p.F746L CHOL 2 240048352 240048352 + Missense_Mutation SNP C C T TCGA-W5-AA2U-01A-11D-A417-09 TCGA-W5-AA2U-10A-01D-A41A-09 g.chr2:240048352C>T c.1318G>A c.(1318-1320)Gca>Aca p.A440T COAD 2 239990251 239990251 + Missense_Mutation SNP A A T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr2:239990251A>T c.2788T>A c.(2788-2790)Tca>Aca p.S930T COAD 2 240002823 240002823 + Frame_Shift_Del DEL G G - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr2:240002823delG c.2703delC c.(2701-2703)cccfs p.P901fs COAD 2 240024510 240024510 + Missense_Mutation SNP G G T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr2:240024510G>T c.2180C>A c.(2179-2181)cCc>cAc p.P727H COAD 2 240024556 240024556 + Nonsense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr2:240024556G>A c.2134C>T c.(2134-2136)Cag>Tag p.Q712* COAD 2 240024584 240024584 + Silent SNP G G A TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr2:240024584G>A c.2106C>T c.(2104-2106)cgC>cgT p.R702R COAD 2 240024584 240024584 + Silent SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr2:240024584G>A c.2106C>T c.(2104-2106)cgC>cgT p.R702R COAD 2 240024584 240024584 + Silent SNP G G A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr2:240024584G>A c.2106C>T c.(2104-2106)cgC>cgT p.R702R COAD 2 240024587 240024588 + Frame_Shift_Del DEL GA GA - TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:240024587_240024588delGA c.2102_2103delTC c.(2101-2103)atcfs p.I701fs COAD 2 240033264 240033264 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr2:240033264C>T c.1921G>A c.(1921-1923)Gtg>Atg p.V641M COAD 2 240033317 240033317 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr2:240033317C>T c.1868G>A c.(1867-1869)gGc>gAc p.G623D COAD 2 240036871 240036871 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr2:240036871C>T c.1654G>A c.(1654-1656)Gca>Aca p.A552T COAD 2 240056068 240056068 + Frame_Shift_Del DEL G G - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr2:240056068delG c.1167delC c.(1165-1167)cccfs p.P389fs COAD 2 240056326 240056326 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:240056326T>C c.992A>G c.(991-993)cAc>cGc p.H331R COAD 2 240061383 240061383 + Silent SNP C C A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr2:240061383C>A c.975G>T c.(973-975)gcG>gcT p.A325A COAD 2 240061460 240061460 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr2:240061460G>A c.898C>T c.(898-900)Ccc>Tcc p.P300S COAD 2 240061475 240061475 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:240061475C>T c.883G>A c.(883-885)Gcc>Acc p.A295T COAD 2 240066326 240066326 + Missense_Mutation SNP T T C TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:240066326T>C c.818A>G c.(817-819)gAc>gGc p.D273G COAD 2 240066342 240066342 + Frame_Shift_Del DEL G G - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr2:240066342delG c.802delC c.(802-804)ctgfs p.L269fs COAD 2 240078376 240078376 + Silent SNP G G A TCGA-AA-A00U-01A-01W-A005-10 TCGA-AA-A00U-10A-01W-A005-10 g.chr2:240078376G>A c.705C>T c.(703-705)gcC>gcT p.A235A COAD 2 240085520 240085520 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr2:240085520C>T c.590G>A c.(589-591)aGc>aAc p.S197N COAD 2 240085594 240085594 + Missense_Mutation SNP C C G TCGA-AA-3812-01A-01W-0900-09 TCGA-AA-3812-10A-01W-0900-09 g.chr2:240085594C>G c.516G>C c.(514-516)aaG>aaC p.K172N COAD 2 240098252 240098252 + Missense_Mutation SNP T T C TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr2:240098252T>C c.347A>G c.(346-348)cAg>cGg p.Q116R COAD 2 240111556 240111556 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr2:240111556G>A c.312C>T c.(310-312)caC>caT p.H104H COAD 2 240111561 240111561 + Nonsense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr2:240111561G>A c.307C>T c.(307-309)Cag>Tag p.Q103* COAD 2 240111713 240111713 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:240111713C>T c.155G>A c.(154-156)cGc>cAc p.R52H COADREAD 2 239990251 239990251 + Missense_Mutation SNP A A T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr2:239990251A>T c.2788T>A c.(2788-2790)Tca>Aca p.S930T COADREAD 2 240002823 240002823 + Frame_Shift_Del DEL G G - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr2:240002823delG c.2703delC c.(2701-2703)cccfs p.P901fs COADREAD 2 240024510 240024510 + Missense_Mutation SNP G G T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr2:240024510G>T c.2180C>A c.(2179-2181)cCc>cAc p.P727H COADREAD 2 240024515 240024515 + Silent SNP C C T TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr2:240024515C>T c.2175G>A c.(2173-2175)acG>acA p.T725T COADREAD 2 240024556 240024556 + Nonsense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr2:240024556G>A c.2134C>T c.(2134-2136)Cag>Tag p.Q712* COADREAD 2 240024584 240024584 + Silent SNP G G A TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr2:240024584G>A c.2106C>T c.(2104-2106)cgC>cgT p.R702R COADREAD 2 240024584 240024584 + Silent SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr2:240024584G>A c.2106C>T c.(2104-2106)cgC>cgT p.R702R COADREAD 2 240024584 240024584 + Silent SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:240024584G>A c.2106C>T c.(2104-2106)cgC>cgT p.R702R COADREAD 2 240024584 240024584 + Silent SNP G G A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr2:240024584G>A c.2106C>T c.(2104-2106)cgC>cgT p.R702R COADREAD 2 240024587 240024588 + Frame_Shift_Del DEL GA GA - TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:240024587_240024588delGA c.2102_2103delTC c.(2101-2103)atcfs p.I701fs COADREAD 2 240033264 240033264 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr2:240033264C>T c.1921G>A c.(1921-1923)Gtg>Atg p.V641M COADREAD 2 240033317 240033317 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr2:240033317C>T c.1868G>A c.(1867-1869)gGc>gAc p.G623D COADREAD 2 240036871 240036871 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr2:240036871C>T c.1654G>A c.(1654-1656)Gca>Aca p.A552T COADREAD 2 240056068 240056068 + Frame_Shift_Del DEL G G - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr2:240056068delG c.1167delC c.(1165-1167)cccfs p.P389fs COADREAD 2 240056326 240056326 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:240056326T>C c.992A>G c.(991-993)cAc>cGc p.H331R COADREAD 2 240061383 240061383 + Silent SNP C C A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr2:240061383C>A c.975G>T c.(973-975)gcG>gcT p.A325A COADREAD 2 240061460 240061460 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr2:240061460G>A c.898C>T c.(898-900)Ccc>Tcc p.P300S COADREAD 2 240061475 240061475 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:240061475C>T c.883G>A c.(883-885)Gcc>Acc p.A295T COADREAD 2 240061476 240061476 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:240061476G>A c.882C>T c.(880-882)agC>agT p.S294S COADREAD 2 240066326 240066326 + Missense_Mutation SNP T T C TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:240066326T>C c.818A>G c.(817-819)gAc>gGc p.D273G COADREAD 2 240066342 240066342 + Frame_Shift_Del DEL G G - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr2:240066342delG c.802delC c.(802-804)ctgfs p.L269fs COADREAD 2 240078376 240078376 + Silent SNP G G A TCGA-AA-A00U-01A-01W-A005-10 TCGA-AA-A00U-10A-01W-A005-10 g.chr2:240078376G>A c.705C>T c.(703-705)gcC>gcT p.A235A COADREAD 2 240085520 240085520 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr2:240085520C>T c.590G>A c.(589-591)aGc>aAc p.S197N COADREAD 2 240085594 240085594 + Missense_Mutation SNP C C G TCGA-AA-3812-01A-01W-0900-09 TCGA-AA-3812-10A-01W-0900-09 g.chr2:240085594C>G c.516G>C c.(514-516)aaG>aaC p.K172N COADREAD 2 240098252 240098252 + Missense_Mutation SNP T T C TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr2:240098252T>C c.347A>G c.(346-348)cAg>cGg p.Q116R COADREAD 2 240111556 240111556 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr2:240111556G>A c.312C>T c.(310-312)caC>caT p.H104H COADREAD 2 240111561 240111561 + Nonsense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr2:240111561G>A c.307C>T c.(307-309)Cag>Tag p.Q103* COADREAD 2 240111713 240111713 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:240111713C>T c.155G>A c.(154-156)cGc>cAc p.R52H DLBC 2 240003873 240003873 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr2:240003873G>A c.2562C>T c.(2560-2562)gaC>gaT p.D854D DLBC 2 240036848 240036848 + Silent SNP C C T TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr2:240036848C>T c.1677G>A c.(1675-1677)aaG>aaA p.K559K DLBC 2 240078400 240078400 + Silent SNP G G A TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr2:240078400G>A c.681C>T c.(679-681)caC>caT p.H227H DLBC 2 240111556 240111556 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr2:240111556G>A c.312C>T c.(310-312)caC>caT p.H104H ESCA 2 239975285 239975285 + Missense_Mutation SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 g.chr2:239975285C>G c.3086G>C c.(3085-3087)cGc>cCc p.R1029P ESCA 2 239990219 239990219 + Frame_Shift_Del DEL G G - TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 g.chr2:239990219delG c.2820delC c.(2818-2820)cccfs p.P940fs ESCA 2 240002800 240002800 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr2:240002800G>A c.2726C>T c.(2725-2727)gCg>gTg p.A909V ESCA 2 240002840 240002840 + Missense_Mutation SNP C C A TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr2:240002840C>A c.2686G>T c.(2686-2688)Ggc>Tgc p.G896C ESCA 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 g.chr2:240016733G>T c.2238C>A c.(2236-2238)ttC>ttA p.F746L ESCA 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr2:240016733G>T c.2238C>A c.(2236-2238)ttC>ttA p.F746L ESCA 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr2:240016733G>T c.2238C>A c.(2236-2238)ttC>ttA p.F746L ESCA 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:240016733G>T c.2238C>A c.(2236-2238)ttC>ttA p.F746L ESCA 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 g.chr2:240016733G>T c.2238C>A c.(2236-2238)ttC>ttA p.F746L ESCA 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-R6-A8W5-01B-11D-A37C-09 TCGA-R6-A8W5-10A-01D-A37F-09 g.chr2:240016733G>T c.2238C>A c.(2236-2238)ttC>ttA p.F746L ESCA 2 240036792 240036792 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:240036792G>A c.1733C>T c.(1732-1734)cCg>cTg p.P578L ESCA 2 240036937 240036937 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 g.chr2:240036937G>A c.1588C>T c.(1588-1590)Cgt>Tgt p.R530C ESCA 2 240085519 240085519 + Silent SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 g.chr2:240085519G>A c.591C>T c.(589-591)agC>agT p.S197S GBM 2 240002804 240002804 + Silent SNP A A G TCGA-32-4213-01A-01D-1353-08 TCGA-32-4213-10A-01D-1353-08 g.chr2:240002804A>G c.2722T>C c.(2722-2724)Ttg>Ctg p.L908L GBM 2 240061423 240061423 + Missense_Mutation SNP G G A TCGA-76-4927-01A-01D-1486-08 TCGA-76-4927-10A-01D-1486-08 g.chr2:240061423G>A c.935C>T c.(934-936)gCg>gTg p.A312V GBMLGG 2 239975226 239975226 + Missense_Mutation SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr2:239975226C>T c.3145G>A c.(3145-3147)Gag>Aag p.E1049K GBMLGG 2 239976491 239976491 + Silent SNP G G A TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 g.chr2:239976491G>A c.3027C>T c.(3025-3027)ccC>ccT p.P1009P GBMLGG 2 240002804 240002804 + Silent SNP A A G TCGA-32-4213-01A-01D-1353-08 TCGA-32-4213-10A-01D-1353-08 g.chr2:240002804A>G c.2722T>C c.(2722-2724)Ttg>Ctg p.L908L GBMLGG 2 240005917 240005917 + Silent SNP G G A TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 g.chr2:240005917G>A c.2451C>T c.(2449-2451)tcC>tcT p.S817S GBMLGG 2 240029749 240029749 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:240029749G>A c.2094C>T c.(2092-2094)tgC>tgT p.C698C GBMLGG 2 240061423 240061423 + Missense_Mutation SNP G G A TCGA-76-4927-01A-01D-1486-08 TCGA-76-4927-10A-01D-1486-08 g.chr2:240061423G>A c.935C>T c.(934-936)gCg>gTg p.A312V GBMLGG 2 240061441 240061441 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:240061441C>T c.917G>A c.(916-918)aGc>aAc p.S306N GBMLGG 2 240111713 240111713 + Missense_Mutation SNP C C T TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 g.chr2:240111713C>T c.155G>A c.(154-156)cGc>cAc p.R52H HNSC 2 239975189 239975189 + Missense_Mutation SNP G G A TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr2:239975189G>A c.3182C>T c.(3181-3183)tCg>tTg p.S1061L HNSC 2 239975193 239975193 + Missense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 g.chr2:239975193C>A c.3178G>T c.(3178-3180)Gcc>Tcc p.A1060S HNSC 2 239976475 239976475 + Missense_Mutation SNP G G A TCGA-QK-A64Z-01A-11D-A30E-08 TCGA-QK-A64Z-10A-01D-A30H-08 g.chr2:239976475G>A c.3043C>T c.(3043-3045)Cgt>Tgt p.R1015C HNSC 2 239988450 239988450 + Nonsense_Mutation SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 g.chr2:239988450C>A c.2956G>T c.(2956-2958)Gaa>Taa p.E986* HNSC 2 239990186 239990186 + Splice_Site SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 g.chr2:239990186T>C c.2853A>G c.(2851-2853)agA>agG p.R951R HNSC 2 240003803 240003803 + Missense_Mutation SNP C C A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 g.chr2:240003803C>A c.2632G>T c.(2632-2634)Gat>Tat p.D878Y HNSC 2 240009285 240009285 + Frame_Shift_Del DEL G G - TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr2:240009285delG c.2399delC c.(2398-2400)cctfs p.P800fs HNSC 2 240029767 240029767 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 g.chr2:240029767C>T c.2076G>A c.(2074-2076)acG>acA p.T692T HNSC 2 240036972 240036972 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 g.chr2:240036972G>A c.1553C>T c.(1552-1554)cCg>cTg p.P518L HNSC 2 240061464 240061464 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 g.chr2:240061464G>A c.894C>T c.(892-894)tcC>tcT p.S298S HNSC 2 240085500 240085500 + Splice_Site SNP C C T TCGA-CV-A463-01A-11D-A25Y-08 TCGA-CV-A463-10A-01D-A25Y-08 g.chr2:240085500C>T c.610G>A c.(610-612)Ggg>Agg p.G204R HNSC 2 240085518 240085518 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 g.chr2:240085518C>T c.592G>A c.(592-594)Gac>Aac p.D198N HNSC 2 240111605 240111605 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:240111605A>T c.263T>A c.(262-264)aTc>aAc p.I88N KICH 2 240033259 240033259 + Silent SNP A A G TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr2:240033259A>G c.1926T>C c.(1924-1926)tcT>tcC p.S642S KIPAN 2 239988463 239988463 + Silent SNP A A T TCGA-EV-5903-01A-11D-1589-08 TCGA-EV-5903-10A-01D-1589-08 g.chr2:239988463A>T c.2943T>A c.(2941-2943)atT>atA p.I981I KIPAN 2 240011717 240011717 + Silent SNP T T C TCGA-BP-4799-01A-01D-1373-10 TCGA-BP-4799-11A-01D-1373-10 g.chr2:240011717T>C c.2361A>G c.(2359-2361)acA>acG p.T787T KIPAN 2 240033259 240033259 + Silent SNP A A G TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr2:240033259A>G c.1926T>C c.(1924-1926)tcT>tcC p.S642S KIPAN 2 240111615 240111615 + Missense_Mutation SNP G G C TCGA-CJ-6031-01A-11D-1669-08 TCGA-CJ-6031-11A-01D-1669-08 g.chr2:240111615G>C c.253C>G c.(253-255)Cag>Gag p.Q85E KIRC 2 240011717 240011717 + Silent SNP T T C TCGA-BP-4799-01A-01D-1373-10 TCGA-BP-4799-11A-01D-1373-10 g.chr2:240011717T>C c.2361A>G c.(2359-2361)acA>acG p.T787T KIRC 2 240111615 240111615 + Missense_Mutation SNP G G C TCGA-CJ-6031-01A-11D-1669-08 TCGA-CJ-6031-11A-01D-1669-08 g.chr2:240111615G>C c.253C>G c.(253-255)Cag>Gag p.Q85E KIRP 2 239988463 239988463 + Silent SNP A A T TCGA-EV-5903-01A-11D-1589-08 TCGA-EV-5903-10A-01D-1589-08 g.chr2:239988463A>T c.2943T>A c.(2941-2943)atT>atA p.I981I LGG 2 239975226 239975226 + Missense_Mutation SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr2:239975226C>T c.3145G>A c.(3145-3147)Gag>Aag p.E1049K LGG 2 239976491 239976491 + Silent SNP G G A TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 g.chr2:239976491G>A c.3027C>T c.(3025-3027)ccC>ccT p.P1009P LGG 2 240005917 240005917 + Silent SNP G G A TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 g.chr2:240005917G>A c.2451C>T c.(2449-2451)tcC>tcT p.S817S LGG 2 240029749 240029749 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:240029749G>A c.2094C>T c.(2092-2094)tgC>tgT p.C698C LGG 2 240061441 240061441 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:240061441C>T c.917G>A c.(916-918)aGc>aAc p.S306N LGG 2 240111713 240111713 + Missense_Mutation SNP C C T TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 g.chr2:240111713C>T c.155G>A c.(154-156)cGc>cAc p.R52H LIHC 2 239975278 239975278 + Frame_Shift_Del DEL C C - TCGA-DD-AACK-01A-11D-A40R-10 TCGA-DD-AACK-10A-01D-A40U-10 g.chr2:239975278delC c.3093delG c.(3091-3093)ctgfs p.L1031fs LIHC 2 239975280 239975281 + Frame_Shift_Del DEL GG GG - TCGA-DD-AACK-01A-11D-A40R-10 TCGA-DD-AACK-10A-01D-A40U-10 g.chr2:239975280_239975281delGG c.3090_3091delCC c.(3088-3093)tgcctgfs p.L1031fs LIHC 2 240029867 240029867 + Missense_Mutation SNP T T C TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr2:240029867T>C c.1976A>G c.(1975-1977)gAc>gGc p.D659G LIHC 2 240056082 240056082 + Missense_Mutation SNP G G A TCGA-DD-A4NF-01A-11D-A27I-10 TCGA-DD-A4NF-10A-01D-A27I-10 g.chr2:240056082G>A c.1153C>T c.(1153-1155)Ctc>Ttc p.L385F LIHC 2 240056268 240056268 + Silent SNP G G A TCGA-RC-A6M6-01A-11D-A32G-10 TCGA-RC-A6M6-10A-01D-A32G-10 g.chr2:240056268G>A c.1050C>T c.(1048-1050)tcC>tcT p.S350S LIHC 2 240056341 240056341 + Splice_Site SNP T T C TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr2:240056341T>C c.e10-2 LIHC 2 240111545 240111545 + Missense_Mutation SNP A A G TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr2:240111545A>G c.323T>C c.(322-324)cTc>cCc p.L108P LIHC 2 240158361 240158361 + Splice_Site SNP C C G TCGA-T1-A6J8-01A-11D-A32G-10 TCGA-T1-A6J8-10A-01D-A32G-10 g.chr2:240158361C>G c.e3-1 LIHC 2 240274391 240274391 + Missense_Mutation SNP T T C TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr2:240274391T>C c.4A>G c.(4-6)Agc>Ggc p.S2G LUAD 2 239974810 239974810 + Nonsense_Mutation SNP C C A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr2:239974810C>A c.3238G>T c.(3238-3240)Gag>Tag p.E1080* LUAD 2 239974820 239974820 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr2:239974820C>A c.3228G>T c.(3226-3228)gaG>gaT p.E1076D LUAD 2 239975197 239975197 + Silent SNP G G A TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr2:239975197G>A c.3174C>T c.(3172-3174)gcC>gcT p.A1058A LUAD 2 239976508 239976508 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr2:239976508C>T c.3010G>A c.(3010-3012)Gtt>Att p.V1004I LUAD 2 239976512 239976512 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chr2:239976512T>A c.3006A>T c.(3004-3006)gaA>gaT p.E1002D LUAD 2 239988418 239988418 + Splice_Site SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr2:239988418C>A c.2988G>T c.(2986-2988)gaG>gaT p.E996D LUAD 2 239988489 239988489 + Missense_Mutation SNP C C T TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chr2:239988489C>T c.2917G>A c.(2917-2919)Gag>Aag p.E973K LUAD 2 239990288 239990288 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr2:239990288C>G c.2751G>C c.(2749-2751)ccG>ccC p.P917P LUAD 2 240009282 240009282 + Missense_Mutation SNP C C A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr2:240009282C>A c.2402G>T c.(2401-2403)gGa>gTa p.G801V LUAD 2 240011772 240011772 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 g.chr2:240011772C>A c.2306G>T c.(2305-2307)gGg>gTg p.G769V LUAD 2 240036854 240036854 + Missense_Mutation SNP C C A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr2:240036854C>A c.1671G>T c.(1669-1671)caG>caT p.Q557H LUAD 2 240036859 240036859 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 g.chr2:240036859C>A c.1666G>T c.(1666-1668)Gtg>Ttg p.V556L LUAD 2 240036884 240036884 + Missense_Mutation SNP C C G TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr2:240036884C>G c.1641G>C c.(1639-1641)caG>caC p.Q547H LUAD 2 240036897 240036897 + Missense_Mutation SNP C C T TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr2:240036897C>T c.1628G>A c.(1627-1629)cGg>cAg p.R543Q LUAD 2 240036915 240036915 + Missense_Mutation SNP T T A TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr2:240036915T>A c.1610A>T c.(1609-1611)gAc>gTc p.D537V LUAD 2 240036977 240036977 + Silent SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 g.chr2:240036977C>T c.1548G>A c.(1546-1548)cgG>cgA p.R516R LUAD 2 240056263 240056263 + Missense_Mutation SNP G G A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr2:240056263G>A c.1055C>T c.(1054-1056)cCc>cTc p.P352L LUAD 2 240066294 240066294 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr2:240066294G>A c.850C>T c.(850-852)Ccg>Tcg p.P284S LUAD 2 240066304 240066304 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr2:240066304T>A c.840A>T c.(838-840)ctA>ctT p.L280L LUAD 2 240066313 240066313 + Silent SNP G G T TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr2:240066313G>T c.831C>A c.(829-831)gtC>gtA p.V277V LUAD 2 240085557 240085557 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr2:240085557C>A c.553G>T c.(553-555)Gcg>Tcg p.A185S LUAD 2 240085567 240085567 + Silent SNP A A G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr2:240085567A>G c.543T>C c.(541-543)aaT>aaC p.N181N LUAD 2 240085607 240085607 + Missense_Mutation SNP C C A TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr2:240085607C>A c.503G>T c.(502-504)aGc>aTc p.S168I LUAD 2 240098157 240098157 + Missense_Mutation SNP G G C TCGA-50-5051-01A-21D-1855-08 TCGA-50-5051-10A-01D-1855-08 g.chr2:240098157G>C c.442C>G c.(442-444)Cgg>Ggg p.R148G LUAD 2 240111690 240111690 + Missense_Mutation SNP G G C TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr2:240111690G>C c.178C>G c.(178-180)Cct>Gct p.P60A LUAD 2 240111691 240111691 + Silent SNP C C A TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr2:240111691C>A c.177G>T c.(175-177)ctG>ctT p.L59L LUSC 2 239975206 239975206 + Silent SNP C C T TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr2:239975206C>T c.3165G>A c.(3163-3165)acG>acA p.T1055T LUSC 2 239988490 239988490 + Silent SNP G G A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr2:239988490G>A c.2916C>T c.(2914-2916)ctC>ctT p.L972L LUSC 2 239990202 239990202 + Missense_Mutation SNP T T C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr2:239990202T>C c.2837A>G c.(2836-2838)tAc>tGc p.Y946C LUSC 2 239990258 239990258 + Silent SNP C C A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr2:239990258C>A c.2781G>T c.(2779-2781)gtG>gtT p.V927V LUSC 2 240016748 240016748 + Silent SNP C C T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr2:240016748C>T c.2223G>A c.(2221-2223)tcG>tcA p.S741S LUSC 2 240029801 240029801 + Missense_Mutation SNP C C T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr2:240029801C>T c.2042G>A c.(2041-2043)aGg>aAg p.R681K LUSC 2 240055998 240055998 + Missense_Mutation SNP G G C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 g.chr2:240055998G>C c.1237C>G c.(1237-1239)Ctt>Gtt p.L413V LUSC 2 240078360 240078360 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr2:240078360G>A c.721C>T c.(721-723)Ctt>Ttt p.L241F LUSC 2 240111549 240111549 + Missense_Mutation SNP G G T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr2:240111549G>T c.319C>A c.(319-321)Cag>Aag p.Q107K OV 2 240024584 240024584 + Silent SNP G G A TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 g.chr2:240024584G>A c.2106C>T c.(2104-2106)cgC>cgT p.R702R OV 2 240085532 240085532 + Missense_Mutation SNP T T G TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 g.chr2:240085532T>G c.578A>C c.(577-579)cAc>cCc p.H193P PAAD 2 240029793 240029793 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:240029793T>C c.2050A>G c.(2050-2052)Agc>Ggc p.S684G PAAD 2 240033255 240033255 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:240033255G>A c.1930C>T c.(1930-1932)Cag>Tag p.Q644* PAAD 2 240048328 240048328 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:240048328G>A c.1342C>T c.(1342-1344)Cgg>Tgg p.R448W PAAD 2 240056274 240056274 + Silent SNP C C T TCGA-US-A776-01A-13D-A33T-08 TCGA-US-A776-11A-11D-A33W-08 g.chr2:240056274C>T c.1044G>A c.(1042-1044)tcG>tcA p.S348S PCPG 2 239988460 239988460 + Silent SNP G G A TCGA-RW-A68A-01A-11D-A35D-08 TCGA-RW-A68A-11A-21D-A35B-08 g.chr2:239988460G>A c.2946C>T c.(2944-2946)tgC>tgT p.C982C PRAD 2 240003880 240003880 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:240003880T>C c.2555A>G c.(2554-2556)tAc>tGc p.Y852C PRAD 2 240009300 240009300 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:240009300G>T c.2384C>A c.(2383-2385)gCt>gAt p.A795D PRAD 2 240111765 240111765 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:240111765C>T c.103G>A c.(103-105)Gcc>Acc p.A35T READ 2 240024515 240024515 + Silent SNP C C T TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr2:240024515C>T c.2175G>A c.(2173-2175)acG>acA p.T725T READ 2 240024584 240024584 + Silent SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:240024584G>A c.2106C>T c.(2104-2106)cgC>cgT p.R702R READ 2 240061476 240061476 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:240061476G>A c.882C>T c.(880-882)agC>agT p.S294S SKCM 2 239976470 239976470 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 g.chr2:239976470G>A c.3048C>T c.(3046-3048)tcC>tcT p.S1016S SKCM 2 239990214 239990214 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:239990214G>A c.2825C>T c.(2824-2826)cCt>cTt p.P942L SKCM 2 239990240 239990240 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:239990240G>A c.2799C>T c.(2797-2799)ttC>ttT p.F933F SKCM 2 239990269 239990269 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:239990269G>A c.2770C>T c.(2770-2772)Ccg>Tcg p.P924S SKCM 2 240016749 240016749 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:240016749G>A c.2222C>T c.(2221-2223)tCg>tTg p.S741L SKCM 2 240024505 240024505 + Missense_Mutation SNP T T A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr2:240024505T>A c.2185A>T c.(2185-2187)Aac>Tac p.N729Y SKCM 2 240029877 240029877 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr2:240029877G>A c.1966C>T c.(1966-1968)Ctc>Ttc p.L656F SKCM 2 240033241 240033241 + Silent SNP G G A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr2:240033241G>A c.1944C>T c.(1942-1944)acC>acT p.T648T SKCM 2 240033331 240033331 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 g.chr2:240033331G>A c.1854C>T c.(1852-1854)ccC>ccT p.P618P SKCM 2 240036809 240036809 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr2:240036809G>A c.1716C>T c.(1714-1716)ccC>ccT p.P572P SKCM 2 240036880 240036881 + Frame_Shift_Del DEL CC CC - TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr2:240036880_240036881delCC c.1644_1645delGG c.(1642-1647)aaggagfs p.E549fs SKCM 2 240036892 240036892 + Missense_Mutation SNP G G A TCGA-D3-A51F-06A-11D-A25O-08 TCGA-D3-A51F-10A-01D-A25O-08 g.chr2:240036892G>A c.1633C>T c.(1633-1635)Ccg>Tcg p.P545S SKCM 2 240055964 240055964 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 g.chr2:240055964G>A c.1271C>T c.(1270-1272)cCg>cTg p.P424L SKCM 2 240056275 240056275 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr2:240056275G>A c.1043C>T c.(1042-1044)tCg>tTg p.S348L SKCM 2 240078470 240078470 + Splice_Site SNP C C T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr2:240078470C>T c.e7-1 SKCM 2 240085518 240085518 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr2:240085518C>T c.592G>A c.(592-594)Gac>Aac p.D198N

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 2 240085519 240085519 single base substitution G A downstream_gene_variant BLCA-CN 2 240085519 240085519 single base substitution G A exon_variant BLCA-CN 2 240085519 240085519 single base substitution G A synonymous_variant S166S 498C>T BLCA-CN 2 240085519 240085519 single base substitution G A synonymous_variant S197S 591C>T BLCA-CN 2 240098209 240098209 single base substitution G A exon_variant BLCA-CN 2 240098209 240098209 single base substitution G A synonymous_variant H103H 309C>T BLCA-CN 2 240098209 240098209 single base substitution G A synonymous_variant H130H 390C>T BLCA-CN 2 240098209 240098209 single base substitution G A synonymous_variant H99H 297C>T BLCA-US 2 240036766 240036766 single base substitution C G exon_variant BLCA-US 2 240036766 240036766 single base substitution C G missense_variant E171Q 511G>C BLCA-US 2 240036766 240036766 single base substitution C G missense_variant E561Q 1681G>C BLCA-US 2 240036766 240036766 single base substitution C G missense_variant E587Q 1759G>C BLCA-US 2 240061422 240061422 single base substitution C T 5_prime_UTR_variant BLCA-US 2 240061422 240061422 single base substitution C T exon_variant BLCA-US 2 240061422 240061422 single base substitution C T synonymous_variant A281A 843G>A BLCA-US 2 240061422 240061422 single base substitution C T synonymous_variant A312A 936G>A BLCA-US 2 240061422 240061422 single base substitution C T synonymous_variant A55A 165G>A BLCA-US 2 240111708 240111708 single base substitution C T exon_variant BLCA-US 2 240111708 240111708 single base substitution C T missense_variant D23N 67G>A BLCA-US 2 240111708 240111708 single base substitution C T missense_variant D27N 79G>A BLCA-US 2 240111708 240111708 single base substitution C T missense_variant D54N 160G>A BOCA-FR 2 239965343 239965343 single base substitution C T downstream_gene_variant BOCA-FR 2 240278166 240278166 single base substitution C A intron_variant BRCA-EU 2 239965267 239965267 single base substitution G C downstream_gene_variant BRCA-EU 2 239965487 239965487 single base substitution C T downstream_gene_variant BRCA-EU 2 239965953 239965953 single base substitution C A downstream_gene_variant BRCA-EU 2 239966281 239966281 single base substitution G A downstream_gene_variant BRCA-EU 2 239967064 239967064 single base substitution C G downstream_gene_variant BRCA-EU 2 239967340 239967340 single base substitution C T downstream_gene_variant BRCA-EU 2 239970676 239970676 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 239970676 239970676 single base substitution C G downstream_gene_variant BRCA-EU 2 239973333 239973333 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 239973333 239973333 single base substitution G A downstream_gene_variant BRCA-EU 2 239973937 239973937 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 239973937 239973937 single base substitution G A downstream_gene_variant BRCA-EU 2 239974415 239974415 single base substitution T A 3_prime_UTR_variant BRCA-EU 2 239974415 239974415 single base substitution T A downstream_gene_variant BRCA-EU 2 239974464 239974464 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 239974464 239974464 single base substitution G C downstream_gene_variant BRCA-EU 2 239975601 239975601 single base substitution C T downstream_gene_variant BRCA-EU 2 239975601 239975601 single base substitution C T intron_variant BRCA-EU 2 239981086 239981086 single base substitution A C intron_variant BRCA-EU 2 239981652 239981652 single base substitution C T intron_variant BRCA-EU 2 239984991 239984991 single base substitution G A intron_variant BRCA-EU 2 239985333 239985333 single base substitution C T intron_variant BRCA-EU 2 239985692 239985692 single base substitution G A intron_variant BRCA-EU 2 239985754 239985754 single base substitution C T intron_variant BRCA-EU 2 239986340 239986340 single base substitution C A intron_variant BRCA-EU 2 239987244 239987244 single base substitution C A intron_variant BRCA-EU 2 239987791 239987791 single base substitution C T intron_variant BRCA-EU 2 239988597 239988597 single base substitution C G intron_variant BRCA-EU 2 239988597 239988597 single base substitution C G missense_variant A27P 79G>C BRCA-EU 2 239990543 239990543 single base substitution G T intron_variant BRCA-EU 2 239990543 239990543 single base substitution G T upstream_gene_variant BRCA-EU 2 239991537 239991537 single base substitution G C intron_variant BRCA-EU 2 239991537 239991537 single base substitution G C upstream_gene_variant BRCA-EU 2 239992245 239992245 single base substitution C G intron_variant BRCA-EU 2 239992245 239992245 single base substitution C G upstream_gene_variant BRCA-EU 2 239992489 239992489 single base substitution A G intron_variant BRCA-EU 2 239992489 239992489 single base substitution A G upstream_gene_variant BRCA-EU 2 239995666 239995666 single base substitution G A intron_variant BRCA-EU 2 239995737 239995737 single base substitution G A intron_variant BRCA-EU 2 239997261 239997261 single base substitution C T intron_variant BRCA-EU 2 239998556 239998556 single base substitution G C downstream_gene_variant BRCA-EU 2 239998556 239998556 single base substitution G C intron_variant BRCA-EU 2 239999540 239999543 deletion of <=200bp AACA - downstream_gene_variant BRCA-EU 2 239999540 239999543 deletion of <=200bp AACA - intron_variant BRCA-EU 2 239999543 239999543 single base substitution A G downstream_gene_variant BRCA-EU 2 239999543 239999543 single base substitution A G intron_variant BRCA-EU 2 240000742 240000742 single base substitution C A downstream_gene_variant BRCA-EU 2 240000742 240000742 single base substitution C A intron_variant BRCA-EU 2 240002780 240002780 single base substitution G A exon_variant BRCA-EU 2 240002780 240002780 single base substitution G A intron_variant BRCA-EU 2 240007023 240007023 single base substitution G C downstream_gene_variant BRCA-EU 2 240007023 240007023 single base substitution G C intron_variant BRCA-EU 2 240007023 240007023 single base substitution G C upstream_gene_variant BRCA-EU 2 240008219 240008219 single base substitution C G downstream_gene_variant BRCA-EU 2 240008219 240008219 single base substitution C G intron_variant BRCA-EU 2 240009101 240009101 single base substitution C T downstream_gene_variant BRCA-EU 2 240009101 240009101 single base substitution C T intron_variant BRCA-EU 2 240010395 240010395 single base substitution C T downstream_gene_variant BRCA-EU 2 240010395 240010395 single base substitution C T intron_variant BRCA-EU 2 240011035 240011035 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 240011035 240011035 deletion of <=200bp T - intron_variant BRCA-EU 2 240011322 240011322 single base substitution C T downstream_gene_variant BRCA-EU 2 240011322 240011322 single base substitution C T intron_variant BRCA-EU 2 240012359 240012359 single base substitution C T downstream_gene_variant BRCA-EU 2 240012359 240012359 single base substitution C T intron_variant BRCA-EU 2 240012382 240012382 single base substitution G A downstream_gene_variant BRCA-EU 2 240012382 240012382 single base substitution G A intron_variant BRCA-EU 2 240012789 240012789 single base substitution C T downstream_gene_variant BRCA-EU 2 240012789 240012789 single base substitution C T intron_variant BRCA-EU 2 240013158 240013158 single base substitution C T downstream_gene_variant BRCA-EU 2 240013158 240013158 single base substitution C T exon_variant BRCA-EU 2 240013158 240013158 single base substitution C T intron_variant BRCA-EU 2 240015341 240015341 single base substitution G A downstream_gene_variant BRCA-EU 2 240015341 240015341 single base substitution G A intron_variant BRCA-EU 2 240015654 240015654 single base substitution C T downstream_gene_variant BRCA-EU 2 240015654 240015654 single base substitution C T intron_variant BRCA-EU 2 240016275 240016275 single base substitution C A 3_prime_UTR_variant BRCA-EU 2 240016275 240016275 single base substitution C A downstream_gene_variant BRCA-EU 2 240016275 240016275 single base substitution C A exon_variant BRCA-EU 2 240016275 240016275 single base substitution C A intron_variant BRCA-EU 2 240016303 240016303 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 240016303 240016303 single base substitution G A downstream_gene_variant BRCA-EU 2 240016303 240016303 single base substitution G A exon_variant BRCA-EU 2 240016303 240016303 single base substitution G A intron_variant BRCA-EU 2 240016373 240016373 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 240016373 240016373 single base substitution C T downstream_gene_variant BRCA-EU 2 240016373 240016373 single base substitution C T exon_variant BRCA-EU 2 240016373 240016373 single base substitution C T intron_variant BRCA-EU 2 240016570 240016570 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 240016570 240016570 single base substitution G A downstream_gene_variant BRCA-EU 2 240016570 240016570 single base substitution G A exon_variant BRCA-EU 2 240016570 240016570 single base substitution G A intron_variant BRCA-EU 2 240018553 240018553 single base substitution C T intron_variant BRCA-EU 2 240020336 240020336 single base substitution C A downstream_gene_variant BRCA-EU 2 240020336 240020336 single base substitution C A intron_variant BRCA-EU 2 240021755 240021755 single base substitution C T downstream_gene_variant BRCA-EU 2 240021755 240021755 single base substitution C T intron_variant BRCA-EU 2 240022433 240022433 single base substitution C G downstream_gene_variant BRCA-EU 2 240022433 240022433 single base substitution C G intron_variant BRCA-EU 2 240025085 240025085 single base substitution C G intron_variant BRCA-EU 2 240025085 240025085 single base substitution C G upstream_gene_variant BRCA-EU 2 240025572 240025572 single base substitution G C intron_variant BRCA-EU 2 240025572 240025572 single base substitution G C upstream_gene_variant BRCA-EU 2 240029079 240029079 single base substitution C G intron_variant BRCA-EU 2 240029079 240029079 single base substitution C G upstream_gene_variant BRCA-EU 2 240030361 240030361 single base substitution C T intron_variant BRCA-EU 2 240030361 240030361 single base substitution C T upstream_gene_variant BRCA-EU 2 240030922 240030922 single base substitution C T intron_variant BRCA-EU 2 240030922 240030922 single base substitution C T upstream_gene_variant BRCA-EU 2 240034082 240034082 single base substitution A G intron_variant BRCA-EU 2 240034082 240034082 single base substitution A G upstream_gene_variant BRCA-EU 2 240034126 240034126 single base substitution C T intron_variant BRCA-EU 2 240034126 240034126 single base substitution C T upstream_gene_variant BRCA-EU 2 240034202 240034202 single base substitution G A intron_variant BRCA-EU 2 240034202 240034202 single base substitution G A upstream_gene_variant BRCA-EU 2 240034945 240034945 single base substitution C G intron_variant BRCA-EU 2 240035209 240035209 single base substitution G A intron_variant BRCA-EU 2 240035545 240035545 single base substitution A G intron_variant BRCA-EU 2 240036105 240036105 single base substitution C T intron_variant BRCA-EU 2 240037525 240037525 single base substitution C A intron_variant BRCA-EU 2 240039555 240039555 single base substitution G A intron_variant BRCA-EU 2 240040771 240040771 single base substitution C G intron_variant BRCA-EU 2 240040909 240040909 single base substitution G C intron_variant BRCA-EU 2 240041804 240041804 single base substitution C G intron_variant BRCA-EU 2 240042675 240042675 single base substitution C A intron_variant BRCA-EU 2 240043000 240043000 single base substitution C T intron_variant BRCA-EU 2 240043150 240043150 single base substitution G A intron_variant BRCA-EU 2 240043161 240043161 single base substitution C T intron_variant BRCA-EU 2 240045554 240045554 single base substitution C G downstream_gene_variant BRCA-EU 2 240045554 240045554 single base substitution C G intron_variant BRCA-EU 2 240048422 240048422 single base substitution G A intron_variant BRCA-EU 2 240048459 240048459 single base substitution G C intron_variant BRCA-EU 2 240048710 240048710 single base substitution T C intron_variant BRCA-EU 2 240052697 240052697 single base substitution C T downstream_gene_variant BRCA-EU 2 240052697 240052697 single base substitution C T intron_variant BRCA-EU 2 240052965 240052965 single base substitution C T downstream_gene_variant BRCA-EU 2 240052965 240052965 single base substitution C T intron_variant BRCA-EU 2 240054211 240054211 single base substitution G A downstream_gene_variant BRCA-EU 2 240054211 240054211 single base substitution G A intron_variant BRCA-EU 2 240057232 240057232 single base substitution C A intron_variant BRCA-EU 2 240057301 240057301 single base substitution T C intron_variant BRCA-EU 2 240058190 240058190 deletion of <=200bp C - intron_variant BRCA-EU 2 240058686 240058686 single base substitution A G intron_variant BRCA-EU 2 240061343 240061343 single base substitution C G intron_variant BRCA-EU 2 240063114 240063114 single base substitution C G intron_variant BRCA-EU 2 240063114 240063114 single base substitution C G upstream_gene_variant BRCA-EU 2 240064476 240064476 single base substitution C G intron_variant BRCA-EU 2 240064476 240064476 single base substitution C G upstream_gene_variant BRCA-EU 2 240064573 240064573 single base substitution A G intron_variant BRCA-EU 2 240064573 240064573 single base substitution A G upstream_gene_variant BRCA-EU 2 240064838 240064838 single base substitution G A intron_variant BRCA-EU 2 240064838 240064838 single base substitution G A upstream_gene_variant BRCA-EU 2 240065308 240065308 single base substitution C G intron_variant BRCA-EU 2 240065308 240065308 single base substitution C G upstream_gene_variant BRCA-EU 2 240068489 240068489 single base substitution C G intron_variant BRCA-EU 2 240068899 240068899 single base substitution T C intron_variant BRCA-EU 2 240069285 240069285 single base substitution C T intron_variant BRCA-EU 2 240071128 240071128 single base substitution G C intron_variant BRCA-EU 2 240071460 240071460 single base substitution G A intron_variant BRCA-EU 2 240071785 240071785 single base substitution G C intron_variant BRCA-EU 2 240074978 240074978 single base substitution C G intron_variant BRCA-EU 2 240075044 240075044 single base substitution A G intron_variant BRCA-EU 2 240075546 240075546 single base substitution G A intron_variant BRCA-EU 2 240078766 240078766 single base substitution C T intron_variant BRCA-EU 2 240078766 240078766 single base substitution C T upstream_gene_variant BRCA-EU 2 240082102 240082102 single base substitution T C downstream_gene_variant BRCA-EU 2 240082102 240082102 single base substitution T C intron_variant BRCA-EU 2 240082102 240082102 single base substitution T C upstream_gene_variant BRCA-EU 2 240082229 240082229 single base substitution G A downstream_gene_variant BRCA-EU 2 240082229 240082229 single base substitution G A intron_variant BRCA-EU 2 240082229 240082229 single base substitution G A upstream_gene_variant BRCA-EU 2 240082929 240082929 single base substitution C T downstream_gene_variant BRCA-EU 2 240082929 240082929 single base substitution C T intron_variant BRCA-EU 2 240082981 240082981 single base substitution T C downstream_gene_variant BRCA-EU 2 240082981 240082981 single base substitution T C intron_variant BRCA-EU 2 240083325 240083325 single base substitution G C downstream_gene_variant BRCA-EU 2 240083325 240083325 single base substitution G C intron_variant BRCA-EU 2 240084548 240084548 deletion of <=200bp G - downstream_gene_variant BRCA-EU 2 240084548 240084548 deletion of <=200bp G - intron_variant BRCA-EU 2 240084555 240084555 single base substitution T A downstream_gene_variant BRCA-EU 2 240084555 240084555 single base substitution T A intron_variant BRCA-EU 2 240085419 240085419 single base substitution C A downstream_gene_variant BRCA-EU 2 240085419 240085419 single base substitution C A intron_variant BRCA-EU 2 240087792 240087792 single base substitution C G intron_variant BRCA-EU 2 240089305 240089305 single base substitution G A intron_variant BRCA-EU 2 240092502 240092502 single base substitution C T intron_variant BRCA-EU 2 240093587 240093587 single base substitution A G downstream_gene_variant BRCA-EU 2 240093587 240093587 single base substitution A G intron_variant BRCA-EU 2 240094628 240094628 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 240094628 240094628 deletion of <=200bp A - intron_variant BRCA-EU 2 240094852 240094852 single base substitution G A downstream_gene_variant BRCA-EU 2 240094852 240094852 single base substitution G A intron_variant BRCA-EU 2 240094877 240094877 single base substitution A C downstream_gene_variant BRCA-EU 2 240094877 240094877 single base substitution A C intron_variant BRCA-EU 2 240095856 240095856 single base substitution C G downstream_gene_variant BRCA-EU 2 240095856 240095856 single base substitution C G intron_variant BRCA-EU 2 240096581 240096581 single base substitution A C downstream_gene_variant BRCA-EU 2 240096581 240096581 single base substitution A C intron_variant BRCA-EU 2 240096977 240096977 single base substitution G A downstream_gene_variant BRCA-EU 2 240096977 240096977 single base substitution G A intron_variant BRCA-EU 2 240099880 240099880 single base substitution C T intron_variant BRCA-EU 2 240100402 240100402 single base substitution G T intron_variant BRCA-EU 2 240100851 240100851 single base substitution C T intron_variant BRCA-EU 2 240101096 240101096 single base substitution G A intron_variant BRCA-EU 2 240101287 240101287 single base substitution G C intron_variant BRCA-EU 2 240101553 240101553 single base substitution C T intron_variant BRCA-EU 2 240102415 240102415 single base substitution C T intron_variant BRCA-EU 2 240102865 240102865 single base substitution C T intron_variant BRCA-EU 2 240104254 240104254 single base substitution C G downstream_gene_variant BRCA-EU 2 240104254 240104254 single base substitution C G intron_variant BRCA-EU 2 240104487 240104487 single base substitution C T downstream_gene_variant BRCA-EU 2 240104487 240104487 single base substitution C T intron_variant BRCA-EU 2 240106835 240106835 single base substitution C T downstream_gene_variant BRCA-EU 2 240106835 240106835 single base substitution C T intron_variant BRCA-EU 2 240108190 240108190 single base substitution A T exon_variant BRCA-EU 2 240108190 240108190 single base substitution A T intron_variant BRCA-EU 2 240108483 240108483 single base substitution C T exon_variant BRCA-EU 2 240108483 240108483 single base substitution C T intron_variant BRCA-EU 2 240108613 240108613 single base substitution C T exon_variant BRCA-EU 2 240108613 240108613 single base substitution C T intron_variant BRCA-EU 2 240109330 240109330 single base substitution C G intron_variant BRCA-EU 2 240112228 240112228 single base substitution C G intron_variant BRCA-EU 2 240112887 240112887 single base substitution C G intron_variant BRCA-EU 2 240112887 240112887 single base substitution C G upstream_gene_variant BRCA-EU 2 240112897 240112897 single base substitution G A intron_variant BRCA-EU 2 240112897 240112897 single base substitution G A upstream_gene_variant BRCA-EU 2 240115443 240115443 single base substitution G A intron_variant BRCA-EU 2 240115443 240115443 single base substitution G A upstream_gene_variant BRCA-EU 2 240115796 240115796 single base substitution C G intron_variant BRCA-EU 2 240115796 240115796 single base substitution C G upstream_gene_variant BRCA-EU 2 240116130 240116130 single base substitution G A intron_variant BRCA-EU 2 240116130 240116130 single base substitution G A upstream_gene_variant BRCA-EU 2 240116391 240116391 single base substitution C T intron_variant BRCA-EU 2 240116391 240116391 single base substitution C T upstream_gene_variant BRCA-EU 2 240117634 240117634 single base substitution T C intron_variant BRCA-EU 2 240117634 240117634 single base substitution T C upstream_gene_variant BRCA-EU 2 240117689 240117689 single base substitution G A intron_variant BRCA-EU 2 240117689 240117689 single base substitution G A upstream_gene_variant BRCA-EU 2 240119176 240119176 single base substitution C G intron_variant BRCA-EU 2 240120350 240120350 insertion of <=200bp - T intron_variant BRCA-EU 2 240121185 240121185 single base substitution G C intron_variant BRCA-EU 2 240121726 240121726 single base substitution G A intron_variant BRCA-EU 2 240125638 240125638 single base substitution A G intron_variant BRCA-EU 2 240125659 240125659 single base substitution G A intron_variant BRCA-EU 2 240127250 240127250 single base substitution G A intron_variant BRCA-EU 2 240128171 240128171 single base substitution C T intron_variant BRCA-EU 2 240128845 240128845 single base substitution T A intron_variant BRCA-EU 2 240130508 240130508 single base substitution G A intron_variant BRCA-EU 2 240130715 240130715 single base substitution G A intron_variant BRCA-EU 2 240131239 240131239 single base substitution C G intron_variant BRCA-EU 2 240133034 240133034 single base substitution G A intron_variant BRCA-EU 2 240133829 240133829 single base substitution A T intron_variant BRCA-EU 2 240136228 240136228 single base substitution T C intron_variant BRCA-EU 2 240136440 240136440 single base substitution G T intron_variant BRCA-EU 2 240136680 240136680 single base substitution C G intron_variant BRCA-EU 2 240137505 240137505 single base substitution G A intron_variant BRCA-EU 2 240138814 240138814 single base substitution C T intron_variant BRCA-EU 2 240139643 240139643 single base substitution C A intron_variant BRCA-EU 2 240139984 240139984 single base substitution G C intron_variant BRCA-EU 2 240141526 240141526 single base substitution G A intron_variant BRCA-EU 2 240141644 240141644 single base substitution A G intron_variant BRCA-EU 2 240141905 240141905 single base substitution C G intron_variant BRCA-EU 2 240142599 240142599 single base substitution C T intron_variant BRCA-EU 2 240142905 240142905 single base substitution C T intron_variant BRCA-EU 2 240144714 240144714 single base substitution C A intron_variant BRCA-EU 2 240146131 240146131 single base substitution C G intron_variant BRCA-EU 2 240147119 240147119 single base substitution C A intron_variant BRCA-EU 2 240147328 240147328 single base substitution C A intron_variant BRCA-EU 2 240147759 240147759 single base substitution C T intron_variant BRCA-EU 2 240150963 240150963 single base substitution C A intron_variant BRCA-EU 2 240151749 240151753 deletion of <=200bp AGGGT - intron_variant BRCA-EU 2 240152165 240152165 single base substitution C A intron_variant BRCA-EU 2 240152314 240152314 single base substitution G T intron_variant BRCA-EU 2 240152810 240152810 single base substitution G C intron_variant BRCA-EU 2 240152981 240152981 single base substitution A G intron_variant BRCA-EU 2 240153600 240153600 single base substitution G A downstream_gene_variant BRCA-EU 2 240153600 240153600 single base substitution G A intron_variant BRCA-EU 2 240153748 240153748 single base substitution C T downstream_gene_variant BRCA-EU 2 240153748 240153748 single base substitution C T intron_variant BRCA-EU 2 240154451 240154451 single base substitution G T downstream_gene_variant BRCA-EU 2 240154451 240154451 single base substitution G T intron_variant BRCA-EU 2 240154633 240154633 single base substitution G C downstream_gene_variant BRCA-EU 2 240154633 240154633 single base substitution G C intron_variant BRCA-EU 2 240159267 240159267 single base substitution A T intron_variant BRCA-EU 2 240159267 240159267 single base substitution A T upstream_gene_variant BRCA-EU 2 240159299 240159299 single base substitution T A intron_variant BRCA-EU 2 240159299 240159299 single base substitution T A upstream_gene_variant BRCA-EU 2 240159346 240159346 single base substitution G A intron_variant BRCA-EU 2 240159346 240159346 single base substitution G A upstream_gene_variant BRCA-EU 2 240159501 240159501 single base substitution G A intron_variant BRCA-EU 2 240159501 240159501 single base substitution G A upstream_gene_variant BRCA-EU 2 240161249 240161249 single base substitution C T intron_variant BRCA-EU 2 240161249 240161249 single base substitution C T upstream_gene_variant BRCA-EU 2 240163080 240163080 single base substitution A G intron_variant BRCA-EU 2 240163080 240163080 single base substitution A G upstream_gene_variant BRCA-EU 2 240163148 240163148 single base substitution T G intron_variant BRCA-EU 2 240163148 240163148 single base substitution T G upstream_gene_variant BRCA-EU 2 240163376 240163376 single base substitution G A intron_variant BRCA-EU 2 240164251 240164251 single base substitution T C intron_variant BRCA-EU 2 240165083 240165083 single base substitution T C intron_variant BRCA-EU 2 240165996 240165996 single base substitution T A intron_variant BRCA-EU 2 240166419 240166419 single base substitution C G intron_variant BRCA-EU 2 240170745 240170745 single base substitution C T intron_variant BRCA-EU 2 240172716 240172716 single base substitution C T intron_variant BRCA-EU 2 240173612 240173612 single base substitution C T intron_variant BRCA-EU 2 240174571 240174571 single base substitution G A intron_variant BRCA-EU 2 240175118 240175118 single base substitution C T intron_variant BRCA-EU 2 240175185 240175185 single base substitution G A intron_variant BRCA-EU 2 240176434 240176434 single base substitution C T intron_variant BRCA-EU 2 240177871 240177871 single base substitution G A intron_variant BRCA-EU 2 240179730 240179730 single base substitution C A intron_variant BRCA-EU 2 240180213 240180213 single base substitution A T intron_variant BRCA-EU 2 240180264 240180264 single base substitution C T intron_variant BRCA-EU 2 240181042 240181042 single base substitution G C intron_variant BRCA-EU 2 240182358 240182358 single base substitution C A intron_variant BRCA-EU 2 240182828 240182828 single base substitution C T intron_variant BRCA-EU 2 240185563 240185563 single base substitution C T intron_variant BRCA-EU 2 240186875 240186875 single base substitution G A intron_variant BRCA-EU 2 240187011 240187011 single base substitution C A intron_variant BRCA-EU 2 240187566 240187566 single base substitution T A intron_variant BRCA-EU 2 240189894 240189894 single base substitution G C intron_variant BRCA-EU 2 240190133 240190133 single base substitution A T intron_variant BRCA-EU 2 240190180 240190180 single base substitution T C intron_variant BRCA-EU 2 240191401 240191401 single base substitution G C intron_variant BRCA-EU 2 240191523 240191523 insertion of <=200bp - CA intron_variant BRCA-EU 2 240191891 240191891 single base substitution G C intron_variant BRCA-EU 2 240192777 240192777 single base substitution T A intron_variant BRCA-EU 2 240192778 240192778 single base substitution T A intron_variant BRCA-EU 2 240193434 240193434 single base substitution G A intron_variant BRCA-EU 2 240194476 240194476 single base substitution G A intron_variant BRCA-EU 2 240194693 240194693 single base substitution G A intron_variant BRCA-EU 2 240195316 240195316 single base substitution T C intron_variant BRCA-EU 2 240195694 240195694 single base substitution T A intron_variant BRCA-EU 2 240199884 240199884 single base substitution A G intron_variant BRCA-EU 2 240201137 240201137 single base substitution T C intron_variant BRCA-EU 2 240201664 240201664 single base substitution C T intron_variant BRCA-EU 2 240201733 240201733 single base substitution A G intron_variant BRCA-EU 2 240201871 240201871 deletion of <=200bp A - intron_variant BRCA-EU 2 240202208 240202208 single base substitution C T intron_variant BRCA-EU 2 240202668 240202668 single base substitution T A intron_variant BRCA-EU 2 240203327 240203327 single base substitution T C intron_variant BRCA-EU 2 240204267 240204267 single base substitution A T intron_variant BRCA-EU 2 240205455 240205455 single base substitution G A intron_variant BRCA-EU 2 240205636 240205636 single base substitution G T intron_variant BRCA-EU 2 240206290 240206290 single base substitution G T intron_variant BRCA-EU 2 240209713 240209713 single base substitution T A intron_variant BRCA-EU 2 240211802 240211802 single base substitution C T intron_variant BRCA-EU 2 240212141 240212141 single base substitution G C intron_variant BRCA-EU 2 240212727 240212727 single base substitution G A intron_variant BRCA-EU 2 240214227 240214227 single base substitution G C intron_variant BRCA-EU 2 240215099 240215099 single base substitution A G intron_variant BRCA-EU 2 240216164 240216164 single base substitution G A intron_variant BRCA-EU 2 240216408 240216408 insertion of <=200bp - GCCTCGGAG intron_variant BRCA-EU 2 240217354 240217354 single base substitution C A intron_variant BRCA-EU 2 240217679 240217694 deletion of <=200bp CGCATCTACAGAGGGA - intron_variant BRCA-EU 2 240217845 240217845 single base substitution C T intron_variant BRCA-EU 2 240218240 240218240 single base substitution C T intron_variant BRCA-EU 2 240218612 240218612 single base substitution A G intron_variant BRCA-EU 2 240221113 240221113 single base substitution G T intron_variant BRCA-EU 2 240221113 240221113 single base substitution G T upstream_gene_variant BRCA-EU 2 240221964 240221964 single base substitution G A intron_variant BRCA-EU 2 240221964 240221964 single base substitution G A upstream_gene_variant BRCA-EU 2 240222279 240222279 single base substitution A G intron_variant BRCA-EU 2 240222279 240222279 single base substitution A G upstream_gene_variant BRCA-EU 2 240222840 240222840 single base substitution C T intron_variant BRCA-EU 2 240222840 240222840 single base substitution C T upstream_gene_variant BRCA-EU 2 240222914 240222914 single base substitution T A intron_variant BRCA-EU 2 240222914 240222914 single base substitution T A upstream_gene_variant BRCA-EU 2 240224813 240224813 single base substitution G A intron_variant BRCA-EU 2 240224813 240224813 single base substitution G A upstream_gene_variant BRCA-EU 2 240224814 240224814 single base substitution G T intron_variant BRCA-EU 2 240224814 240224814 single base substitution G T upstream_gene_variant BRCA-EU 2 240225095 240225095 single base substitution C G intron_variant BRCA-EU 2 240225095 240225095 single base substitution C G upstream_gene_variant BRCA-EU 2 240226227 240226227 single base substitution G T intron_variant BRCA-EU 2 240226477 240226477 single base substitution G C intron_variant BRCA-EU 2 240226478 240226478 single base substitution C A intron_variant BRCA-EU 2 240226883 240226883 single base substitution G A intron_variant BRCA-EU 2 240226952 240226952 single base substitution T A intron_variant BRCA-EU 2 240227264 240227266 deletion of <=200bp TTG - intron_variant BRCA-EU 2 240228282 240228282 single base substitution C G intron_variant BRCA-EU 2 240229053 240229053 single base substitution A T intron_variant BRCA-EU 2 240229641 240229641 single base substitution C T intron_variant BRCA-EU 2 240230384 240230384 single base substitution C G intron_variant BRCA-EU 2 240230501 240230501 single base substitution C G intron_variant BRCA-EU 2 240232837 240232837 single base substitution C G intron_variant BRCA-EU 2 240232837 240232837 single base substitution C G upstream_gene_variant BRCA-EU 2 240233368 240233368 single base substitution T G intron_variant BRCA-EU 2 240233368 240233368 single base substitution T G upstream_gene_variant BRCA-EU 2 240234985 240234985 single base substitution C T intron_variant BRCA-EU 2 240234985 240234985 single base substitution C T upstream_gene_variant BRCA-EU 2 240235864 240235864 single base substitution G C intron_variant BRCA-EU 2 240235864 240235864 single base substitution G C upstream_gene_variant BRCA-EU 2 240236681 240236681 single base substitution G A intron_variant BRCA-EU 2 240236920 240236920 single base substitution C T intron_variant BRCA-EU 2 240237567 240237567 insertion of <=200bp - A intron_variant BRCA-EU 2 240239846 240239846 single base substitution G C intron_variant BRCA-EU 2 240240766 240240766 single base substitution G A intron_variant BRCA-EU 2 240240975 240240975 single base substitution C T intron_variant BRCA-EU 2 240241062 240241062 single base substitution C A intron_variant BRCA-EU 2 240241698 240241698 single base substitution G A intron_variant BRCA-EU 2 240241937 240241937 single base substitution C T intron_variant BRCA-EU 2 240242814 240242814 single base substitution G A intron_variant BRCA-EU 2 240242976 240242976 single base substitution C A intron_variant BRCA-EU 2 240243850 240243850 single base substitution C G intron_variant BRCA-EU 2 240243917 240243917 single base substitution C T intron_variant BRCA-EU 2 240244447 240244447 single base substitution T A intron_variant BRCA-EU 2 240244741 240244741 single base substitution C G intron_variant BRCA-EU 2 240244975 240244975 insertion of <=200bp - AG intron_variant BRCA-EU 2 240247654 240247654 insertion of <=200bp - A intron_variant BRCA-EU 2 240248068 240248068 single base substitution A C intron_variant BRCA-EU 2 240248656 240248656 single base substitution C T intron_variant BRCA-EU 2 240250195 240250196 deletion of <=200bp CA - intron_variant BRCA-EU 2 240250469 240250469 single base substitution T A intron_variant BRCA-EU 2 240253249 240253249 single base substitution A G intron_variant BRCA-EU 2 240253250 240253250 single base substitution G A intron_variant BRCA-EU 2 240253713 240253713 single base substitution A C intron_variant BRCA-EU 2 240257733 240257733 single base substitution A G intron_variant BRCA-EU 2 240258801 240258801 single base substitution C T intron_variant BRCA-EU 2 240259470 240259470 single base substitution C G intron_variant BRCA-EU 2 240259931 240259931 single base substitution C T intron_variant BRCA-EU 2 240259949 240259949 single base substitution G C intron_variant BRCA-EU 2 240263096 240263096 single base substitution G A intron_variant BRCA-EU 2 240263121 240263121 single base substitution C T intron_variant BRCA-EU 2 240264008 240264008 single base substitution C T intron_variant BRCA-EU 2 240264433 240264433 single base substitution T C intron_variant BRCA-EU 2 240265884 240265884 single base substitution C T intron_variant BRCA-EU 2 240266041 240266041 single base substitution G C intron_variant BRCA-EU 2 240269214 240269214 deletion of <=200bp T - intron_variant BRCA-EU 2 240271437 240271437 single base substitution C T intron_variant BRCA-EU 2 240271945 240271945 single base substitution G C intron_variant BRCA-EU 2 240273719 240273719 single base substitution G A intron_variant BRCA-EU 2 240274707 240274707 deletion of <=200bp T - intron_variant BRCA-EU 2 240274938 240274938 single base substitution G C intron_variant BRCA-EU 2 240275545 240275545 single base substitution T C intron_variant BRCA-EU 2 240275828 240275828 single base substitution C T intron_variant BRCA-EU 2 240277379 240277379 single base substitution G C intron_variant BRCA-EU 2 240277610 240277610 single base substitution G C intron_variant BRCA-EU 2 240277903 240277903 single base substitution G A intron_variant BRCA-EU 2 240279344 240279344 single base substitution C T intron_variant BRCA-EU 2 240283738 240283738 single base substitution G A intron_variant BRCA-EU 2 240284949 240284949 single base substitution G C intron_variant BRCA-EU 2 240285454 240285454 single base substitution C G intron_variant BRCA-EU 2 240285915 240285915 single base substitution A G intron_variant BRCA-EU 2 240286033 240286033 single base substitution A T intron_variant BRCA-EU 2 240286096 240286096 single base substitution T C intron_variant BRCA-EU 2 240287022 240287022 single base substitution G C intron_variant BRCA-EU 2 240287381 240287381 single base substitution C T intron_variant BRCA-EU 2 240287989 240287989 single base substitution T C intron_variant BRCA-EU 2 240288477 240288477 single base substitution C T intron_variant BRCA-EU 2 240289651 240289651 single base substitution C T intron_variant BRCA-EU 2 240290369 240290369 single base substitution C T intron_variant BRCA-EU 2 240291609 240291609 single base substitution G A intron_variant BRCA-EU 2 240293890 240293890 single base substitution C A intron_variant BRCA-EU 2 240294718 240294718 single base substitution G A intron_variant BRCA-EU 2 240295862 240295872 deletion of <=200bp CAGCCGGTGAA - intron_variant BRCA-EU 2 240296728 240296728 single base substitution G C intron_variant BRCA-EU 2 240297590 240297590 single base substitution G A intron_variant BRCA-EU 2 240297611 240297611 single base substitution C A intron_variant BRCA-EU 2 240297719 240297719 single base substitution C A intron_variant BRCA-EU 2 240298038 240298038 single base substitution A C intron_variant BRCA-EU 2 240298192 240298192 single base substitution G C intron_variant BRCA-EU 2 240299759 240299759 single base substitution G A intron_variant BRCA-EU 2 240301153 240301153 single base substitution C T intron_variant BRCA-EU 2 240301940 240301940 single base substitution G A intron_variant BRCA-EU 2 240303561 240303561 single base substitution C G intron_variant BRCA-EU 2 240303840 240303840 single base substitution A G intron_variant BRCA-EU 2 240304597 240304597 deletion of <=200bp T - intron_variant BRCA-EU 2 240306085 240306085 single base substitution G A intron_variant BRCA-EU 2 240306464 240306464 single base substitution G A intron_variant BRCA-EU 2 240307333 240307333 single base substitution C T intron_variant BRCA-EU 2 240307392 240307392 single base substitution G C intron_variant BRCA-EU 2 240308435 240308435 single base substitution C T intron_variant BRCA-EU 2 240310619 240310619 single base substitution G C intron_variant BRCA-EU 2 240311625 240311625 single base substitution A C intron_variant BRCA-EU 2 240311673 240311673 single base substitution G A intron_variant BRCA-EU 2 240314325 240314325 single base substitution G A intron_variant BRCA-EU 2 240314528 240314528 single base substitution C T intron_variant BRCA-EU 2 240316095 240316095 single base substitution G A intron_variant BRCA-EU 2 240318858 240318858 single base substitution G A intron_variant BRCA-EU 2 240319681 240319681 single base substitution C G intron_variant BRCA-EU 2 240320313 240320313 single base substitution G C intron_variant BRCA-EU 2 240320938 240320938 single base substitution T G intron_variant BRCA-EU 2 240321245 240321245 single base substitution G C intron_variant BRCA-EU 2 240322547 240322547 insertion of <=200bp - GGC 5_prime_UTR_variant BRCA-EU 2 240322547 240322547 insertion of <=200bp - GGC intron_variant BRCA-EU 2 240322654 240322654 single base substitution C T intron_variant BRCA-EU 2 240322654 240322654 single base substitution C T upstream_gene_variant BRCA-EU 2 240322848 240322848 single base substitution G A intron_variant BRCA-EU 2 240322848 240322848 single base substitution G A upstream_gene_variant BRCA-EU 2 240323331 240323331 single base substitution C T exon_variant BRCA-EU 2 240323331 240323331 single base substitution C T upstream_gene_variant BRCA-EU 2 240323940 240323940 single base substitution G A upstream_gene_variant BRCA-EU 2 240326416 240326416 single base substitution C T upstream_gene_variant BRCA-EU 2 240326965 240326965 single base substitution T C upstream_gene_variant BRCA-EU 2 240327328 240327328 single base substitution G A upstream_gene_variant BRCA-FR 2 239968284 239968284 single base substitution G A downstream_gene_variant BRCA-FR 2 239974464 239974464 single base substitution G C 3_prime_UTR_variant BRCA-FR 2 239974464 239974464 single base substitution G C downstream_gene_variant BRCA-FR 2 239985754 239985754 single base substitution C T intron_variant BRCA-FR 2 239998556 239998556 single base substitution G C downstream_gene_variant BRCA-FR 2 239998556 239998556 single base substitution G C intron_variant BRCA-FR 2 239999406 239999406 single base substitution G A downstream_gene_variant BRCA-FR 2 239999406 239999406 single base substitution G A intron_variant BRCA-FR 2 240021755 240021755 single base substitution C T downstream_gene_variant BRCA-FR 2 240021755 240021755 single base substitution C T intron_variant BRCA-FR 2 240023048 240023048 single base substitution C T downstream_gene_variant BRCA-FR 2 240023048 240023048 single base substitution C T intron_variant BRCA-FR 2 240032126 240032126 single base substitution G T intron_variant BRCA-FR 2 240032126 240032126 single base substitution G T upstream_gene_variant BRCA-FR 2 240036105 240036105 single base substitution C T intron_variant BRCA-FR 2 240045554 240045554 single base substitution C G downstream_gene_variant BRCA-FR 2 240045554 240045554 single base substitution C G intron_variant BRCA-FR 2 240078766 240078766 single base substitution C T intron_variant BRCA-FR 2 240078766 240078766 single base substitution C T upstream_gene_variant BRCA-FR 2 240092502 240092502 single base substitution C T intron_variant BRCA-FR 2 240095856 240095856 single base substitution C G downstream_gene_variant BRCA-FR 2 240095856 240095856 single base substitution C G intron_variant BRCA-FR 2 240096581 240096581 single base substitution A C downstream_gene_variant BRCA-FR 2 240096581 240096581 single base substitution A C intron_variant BRCA-FR 2 240099851 240099851 single base substitution C G intron_variant BRCA-FR 2 240099880 240099880 single base substitution C T intron_variant BRCA-FR 2 240108483 240108483 single base substitution C T exon_variant BRCA-FR 2 240108483 240108483 single base substitution C T intron_variant BRCA-FR 2 240111216 240111216 single base substitution C T intron_variant BRCA-FR 2 240127250 240127250 single base substitution G A intron_variant BRCA-FR 2 240137505 240137505 single base substitution G A intron_variant BRCA-FR 2 240180213 240180213 single base substitution A T intron_variant BRCA-FR 2 240182828 240182828 single base substitution C T intron_variant BRCA-FR 2 240185563 240185563 single base substitution C T intron_variant BRCA-FR 2 240187566 240187566 single base substitution T A intron_variant BRCA-FR 2 240190133 240190133 single base substitution A T intron_variant BRCA-FR 2 240191891 240191891 single base substitution G C intron_variant BRCA-FR 2 240195091 240195091 single base substitution C T intron_variant BRCA-FR 2 240225095 240225095 single base substitution C G intron_variant BRCA-FR 2 240225095 240225095 single base substitution C G upstream_gene_variant BRCA-FR 2 240226952 240226952 single base substitution T A intron_variant BRCA-FR 2 240229585 240229585 single base substitution C T intron_variant BRCA-FR 2 240238784 240238784 single base substitution C T intron_variant BRCA-FR 2 240248068 240248068 single base substitution A C intron_variant BRCA-FR 2 240264309 240264309 single base substitution G A intron_variant BRCA-FR 2 240265884 240265884 single base substitution C T intron_variant BRCA-FR 2 240273719 240273719 single base substitution G A intron_variant BRCA-FR 2 240275310 240275310 single base substitution A G intron_variant BRCA-FR 2 240280124 240280124 single base substitution T A intron_variant BRCA-FR 2 240285896 240285896 single base substitution G A intron_variant BRCA-FR 2 240293367 240293367 single base substitution C A intron_variant BRCA-FR 2 240313843 240313843 single base substitution T A intron_variant BRCA-FR 2 240314325 240314325 single base substitution G A intron_variant BRCA-FR 2 240314570 240314570 single base substitution C A intron_variant BRCA-FR 2 240320313 240320313 single base substitution G C intron_variant BRCA-KR 2 240061371 240061371 single base substitution C T intron_variant BRCA-UK 2 239988624 239988624 single base substitution C T intron_variant BRCA-UK 2 239988624 239988624 single base substitution C T missense_variant E18K 52G>A BRCA-UK 2 239991493 239991493 single base substitution G T intron_variant BRCA-UK 2 239991493 239991493 single base substitution G T upstream_gene_variant BRCA-UK 2 239995752 239995752 single base substitution T G intron_variant BRCA-UK 2 239995757 239995757 single base substitution A C intron_variant BRCA-UK 2 240015449 240015449 single base substitution C T downstream_gene_variant BRCA-UK 2 240015449 240015449 single base substitution C T intron_variant BRCA-UK 2 240046540 240046540 single base substitution C T downstream_gene_variant BRCA-UK 2 240046540 240046540 single base substitution C T intron_variant BRCA-UK 2 240057301 240057301 single base substitution T C intron_variant BRCA-UK 2 240064763 240064763 single base substitution C T intron_variant BRCA-UK 2 240064763 240064763 single base substitution C T upstream_gene_variant BRCA-UK 2 240094877 240094877 single base substitution A C downstream_gene_variant BRCA-UK 2 240094877 240094877 single base substitution A C intron_variant BRCA-UK 2 240103909 240103909 single base substitution C T downstream_gene_variant BRCA-UK 2 240103909 240103909 single base substitution C T intron_variant BRCA-UK 2 240104773 240104773 single base substitution G A downstream_gene_variant BRCA-UK 2 240104773 240104773 single base substitution G A intron_variant BRCA-UK 2 240104908 240104908 single base substitution G A downstream_gene_variant BRCA-UK 2 240104908 240104908 single base substitution G A intron_variant BRCA-UK 2 240147759 240147759 single base substitution C T intron_variant BRCA-UK 2 240152810 240152810 single base substitution G C intron_variant BRCA-UK 2 240167551 240167551 single base substitution C T intron_variant BRCA-UK 2 240215099 240215099 single base substitution A G intron_variant BRCA-UK 2 240217786 240217786 single base substitution G C intron_variant BRCA-UK 2 240226478 240226478 single base substitution C A intron_variant BRCA-UK 2 240240975 240240975 single base substitution C T intron_variant BRCA-UK 2 240281519 240281519 single base substitution G C intron_variant BRCA-UK 2 240287989 240287989 single base substitution T C intron_variant BRCA-UK 2 240297950 240297950 single base substitution C A intron_variant BRCA-UK 2 240320938 240320938 single base substitution T G intron_variant BRCA-UK 2 240326416 240326416 single base substitution C T upstream_gene_variant BRCA-US 2 239975187 239975187 single base substitution G A downstream_gene_variant BRCA-US 2 239975187 239975187 single base substitution G A synonymous_variant L1062L 3184C>T BRCA-US 2 239975187 239975187 single base substitution G A synonymous_variant L152L 454C>T BRCA-US 2 239975187 239975187 single base substitution G A synonymous_variant L646L 1936C>T BRCA-US 2 240011772 240011772 single base substitution C T downstream_gene_variant BRCA-US 2 240011772 240011772 single base substitution C T exon_variant BRCA-US 2 240011772 240011772 single base substitution C T missense_variant G353E 1058G>A BRCA-US 2 240011772 240011772 single base substitution C T missense_variant G769E 2306G>A BRCA-US 2 240016733 240016733 single base substitution G T exon_variant BRCA-US 2 240016733 240016733 single base substitution G T missense_variant F330L 990C>A BRCA-US 2 240016733 240016733 single base substitution G T missense_variant F720L 2160C>A BRCA-US 2 240016733 240016733 single base substitution G T missense_variant F746L 2238C>A BRCA-US 2 240033318 240033318 single base substitution C A exon_variant BRCA-US 2 240033318 240033318 single base substitution C A missense_variant G207C 619G>T BRCA-US 2 240033318 240033318 single base substitution C A missense_variant G597C 1789G>T BRCA-US 2 240033318 240033318 single base substitution C A missense_variant G623C 1867G>T BRCA-US 2 240033318 240033318 single base substitution C A upstream_gene_variant BRCA-US 2 240056103 240056103 single base substitution G C 5_prime_UTR_variant BRCA-US 2 240056103 240056103 single base substitution G C exon_variant BRCA-US 2 240056103 240056103 single base substitution G C missense_variant L121V 361C>G BRCA-US 2 240056103 240056103 single base substitution G C missense_variant L347V 1039C>G BRCA-US 2 240056103 240056103 single base substitution G C missense_variant L378V 1132C>G BRCA-US 2 240056337 240056337 single base substitution C T splice_region_variant BRCA-US 2 240066299 240066299 deletion of <=200bp T - 5_prime_UTR_variant BRCA-US 2 240066299 240066299 deletion of <=200bp T - exon_variant BRCA-US 2 240066299 240066299 deletion of <=200bp T - frameshift_variant K251 BRCA-US 2 240066299 240066299 deletion of <=200bp T - frameshift_variant K282 BRCA-US 2 240066299 240066299 deletion of <=200bp T - upstream_gene_variant BTCA-JP 2 239975178 239975178 single base substitution C G downstream_gene_variant BTCA-JP 2 239975178 239975178 single base substitution C G missense_variant G1065R 3193G>C BTCA-JP 2 239975178 239975178 single base substitution C G missense_variant G155R 463G>C BTCA-JP 2 239975178 239975178 single base substitution C G missense_variant G649R 1945G>C BTCA-JP 2 240005870 240005870 single base substitution T G exon_variant BTCA-JP 2 240005870 240005870 single base substitution T G missense_variant K417T 1250A>C BTCA-JP 2 240005870 240005870 single base substitution T G missense_variant K833T 2498A>C BTCA-JP 2 240005870 240005870 single base substitution T G upstream_gene_variant BTCA-JP 2 240016757 240016757 deletion of <=200bp G - intron_variant BTCA-JP 2 240016757 240016757 deletion of <=200bp G - splice_region_variant BTCA-JP 2 240033500 240033500 single base substitution G A intron_variant BTCA-JP 2 240033500 240033500 single base substitution G A upstream_gene_variant BTCA-JP 2 240036666 240036666 single base substitution G A intron_variant BTCA-JP 2 240056068 240056068 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 2 240056068 240056068 single base substitution G A exon_variant BTCA-JP 2 240056068 240056068 single base substitution G A synonymous_variant P132P 396C>T BTCA-JP 2 240056068 240056068 single base substitution G A synonymous_variant P358P 1074C>T BTCA-JP 2 240056068 240056068 single base substitution G A synonymous_variant P389P 1167C>T BTCA-JP 2 240061371 240061371 single base substitution C T intron_variant BTCA-JP 2 240061400 240061400 single base substitution C T 5_prime_UTR_variant BTCA-JP 2 240061400 240061400 single base substitution C T exon_variant BTCA-JP 2 240061400 240061400 single base substitution C T missense_variant V289I 865G>A BTCA-JP 2 240061400 240061400 single base substitution C T missense_variant V320I 958G>A BTCA-JP 2 240061400 240061400 single base substitution C T missense_variant V63I 187G>A BTCA-JP 2 240062585 240062585 single base substitution G A intron_variant BTCA-JP 2 240062585 240062585 single base substitution G A missense_variant A28V 83C>T BTCA-JP 2 240083567 240083567 single base substitution G A downstream_gene_variant BTCA-JP 2 240083567 240083567 single base substitution G A intron_variant BTCA-JP 2 240083658 240083658 single base substitution C T downstream_gene_variant BTCA-JP 2 240083658 240083658 single base substitution C T intron_variant BTCA-JP 2 240084024 240084024 single base substitution C T downstream_gene_variant BTCA-JP 2 240084024 240084024 single base substitution C T intron_variant BTCA-JP 2 240085469 240085470 deletion of <=200bp GG - downstream_gene_variant BTCA-JP 2 240085469 240085470 deletion of <=200bp GG - intron_variant CESC-US 2 240002874 240002874 single base substitution G A exon_variant CESC-US 2 240002874 240002874 single base substitution G A synonymous_variant P468P 1404C>T CESC-US 2 240002874 240002874 single base substitution G A synonymous_variant P884P 2652C>T CESC-US 2 240002874 240002874 single base substitution G A upstream_gene_variant CESC-US 2 240016733 240016733 single base substitution G T exon_variant CESC-US 2 240016733 240016733 single base substitution G T missense_variant F330L 990C>A CESC-US 2 240016733 240016733 single base substitution G T missense_variant F720L 2160C>A CESC-US 2 240016733 240016733 single base substitution G T missense_variant F746L 2238C>A CESC-US 2 240048391 240048391 single base substitution C T intron_variant CESC-US 2 240048391 240048391 single base substitution C T splice_acceptor_variant CESC-US 2 240098187 240098187 single base substitution G A exon_variant CESC-US 2 240098187 240098187 single base substitution G A missense_variant R107C 319C>T CESC-US 2 240098187 240098187 single base substitution G A missense_variant R111C 331C>T CESC-US 2 240098187 240098187 single base substitution G A missense_variant R138C 412C>T CLLE-ES 2 239968253 239968253 single base substitution T C downstream_gene_variant CLLE-ES 2 239976582 239976582 single base substitution G A downstream_gene_variant CLLE-ES 2 239976582 239976582 single base substitution G A intron_variant CLLE-ES 2 239998706 239998706 single base substitution A C downstream_gene_variant CLLE-ES 2 239998706 239998706 single base substitution A C intron_variant CLLE-ES 2 240002294 240002294 single base substitution G C downstream_gene_variant CLLE-ES 2 240002294 240002294 single base substitution G C intron_variant CLLE-ES 2 240006363 240006363 insertion of <=200bp - ACAG intron_variant CLLE-ES 2 240006363 240006363 insertion of <=200bp - ACAG upstream_gene_variant CLLE-ES 2 240040967 240040967 single base substitution A G intron_variant CLLE-ES 2 240041777 240041777 single base substitution C T intron_variant CLLE-ES 2 240070872 240070872 single base substitution T G intron_variant CLLE-ES 2 240078260 240078260 single base substitution G T intron_variant CLLE-ES 2 240078260 240078260 single base substitution G T upstream_gene_variant CLLE-ES 2 240090315 240090315 single base substitution A G intron_variant CLLE-ES 2 240112062 240112062 single base substitution G A intron_variant CLLE-ES 2 240137907 240137907 single base substitution C T intron_variant CLLE-ES 2 240187624 240187624 single base substitution G C intron_variant CLLE-ES 2 240199840 240199840 single base substitution A G intron_variant CLLE-ES 2 240214467 240214467 single base substitution A G intron_variant CLLE-ES 2 240231488 240231488 single base substitution T A intron_variant CLLE-ES 2 240231488 240231488 single base substitution T A upstream_gene_variant CLLE-ES 2 240246862 240246862 single base substitution A G intron_variant CLLE-ES 2 240251185 240251185 insertion of <=200bp - ACACCCCTCCTCCCACCGGG intron_variant CLLE-ES 2 240251973 240251973 single base substitution C T intron_variant CLLE-ES 2 240273684 240273684 single base substitution C T intron_variant CLLE-ES 2 240287658 240287658 single base substitution T G intron_variant CLLE-ES 2 240297623 240297623 single base substitution G A intron_variant CLLE-ES 2 240309707 240309707 insertion of <=200bp - GGAAAAAC intron_variant CLLE-ES 2 240326146 240326146 single base substitution C G upstream_gene_variant CLLE-ES 2 240327613 240327613 single base substitution A G upstream_gene_variant COAD-US 2 240002823 240002823 deletion of <=200bp G - exon_variant COAD-US 2 240002823 240002823 deletion of <=200bp G - frameshift_variant P485 COAD-US 2 240002823 240002823 deletion of <=200bp G - frameshift_variant P901 COAD-US 2 240033264 240033264 single base substitution C T exon_variant COAD-US 2 240033264 240033264 single base substitution C T missense_variant V225M 673G>A COAD-US 2 240033264 240033264 single base substitution C T missense_variant V615M 1843G>A COAD-US 2 240033264 240033264 single base substitution C T missense_variant V641M 1921G>A COAD-US 2 240033264 240033264 single base substitution C T upstream_gene_variant COAD-US 2 240033317 240033317 single base substitution C T exon_variant COAD-US 2 240033317 240033317 single base substitution C T missense_variant G207D 620G>A COAD-US 2 240033317 240033317 single base substitution C T missense_variant G597D 1790G>A COAD-US 2 240033317 240033317 single base substitution C T missense_variant G623D 1868G>A COAD-US 2 240033317 240033317 single base substitution C T upstream_gene_variant COAD-US 2 240036959 240036959 single base substitution C T exon_variant COAD-US 2 240036959 240036959 single base substitution C T synonymous_variant P106P 318G>A COAD-US 2 240036959 240036959 single base substitution C T synonymous_variant P496P 1488G>A COAD-US 2 240036959 240036959 single base substitution C T synonymous_variant P522P 1566G>A COAD-US 2 240056068 240056068 deletion of <=200bp G - 5_prime_UTR_variant COAD-US 2 240056068 240056068 deletion of <=200bp G - exon_variant COAD-US 2 240056068 240056068 deletion of <=200bp G - frameshift_variant P132 COAD-US 2 240056068 240056068 deletion of <=200bp G - frameshift_variant P358 COAD-US 2 240056068 240056068 deletion of <=200bp G - frameshift_variant P389 COAD-US 2 240061383 240061383 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 2 240061383 240061383 single base substitution C A exon_variant COAD-US 2 240061383 240061383 single base substitution C A synonymous_variant A294A 882G>T COAD-US 2 240061383 240061383 single base substitution C A synonymous_variant A325A 975G>T COAD-US 2 240061383 240061383 single base substitution C A synonymous_variant A68A 204G>T COAD-US 2 240061460 240061460 single base substitution G A 5_prime_UTR_variant COAD-US 2 240061460 240061460 single base substitution G A exon_variant COAD-US 2 240061460 240061460 single base substitution G A missense_variant P269S 805C>T COAD-US 2 240061460 240061460 single base substitution G A missense_variant P300S 898C>T COAD-US 2 240061460 240061460 single base substitution G A missense_variant P43S 127C>T COAD-US 2 240061475 240061475 single base substitution C T 5_prime_UTR_variant COAD-US 2 240061475 240061475 single base substitution C T exon_variant COAD-US 2 240061475 240061475 single base substitution C T missense_variant A264T 790G>A COAD-US 2 240061475 240061475 single base substitution C T missense_variant A295T 883G>A COAD-US 2 240061475 240061475 single base substitution C T missense_variant A38T 112G>A COAD-US 2 240111556 240111556 single base substitution G A exon_variant COAD-US 2 240111556 240111556 single base substitution G A synonymous_variant H104H 312C>T COAD-US 2 240111556 240111556 single base substitution G A synonymous_variant H73H 219C>T COAD-US 2 240111556 240111556 single base substitution G A synonymous_variant H77H 231C>T COAD-US 2 240111561 240111561 single base substitution G A exon_variant COAD-US 2 240111561 240111561 single base substitution G A stop_gained Q103* 307C>T COAD-US 2 240111561 240111561 single base substitution G A stop_gained Q72* 214C>T COAD-US 2 240111561 240111561 single base substitution G A stop_gained Q76* 226C>T COAD-US 2 240111713 240111713 single base substitution C T exon_variant COAD-US 2 240111713 240111713 single base substitution C T missense_variant R21H 62G>A COAD-US 2 240111713 240111713 single base substitution C T missense_variant R25H 74G>A COAD-US 2 240111713 240111713 single base substitution C T missense_variant R52H 155G>A COAD-US 2 240158313 240158313 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 2 240158313 240158313 single base substitution G A exon_variant COAD-US 2 240158313 240158313 single base substitution G A missense_variant R24C 70C>T COCA-CN 2 239976690 239976690 single base substitution G A downstream_gene_variant COCA-CN 2 239976690 239976690 single base substitution G A intron_variant COCA-CN 2 239988460 239988460 single base substitution G A exon_variant COCA-CN 2 239988460 239988460 single base substitution G A synonymous_variant C566C 1698C>T COCA-CN 2 239988460 239988460 single base substitution G A synonymous_variant C72C 216C>T COCA-CN 2 239988460 239988460 single base substitution G A synonymous_variant C982C 2946C>T COCA-CN 2 239990250 239990250 single base substitution G A exon_variant COCA-CN 2 239990250 239990250 single base substitution G A missense_variant S514L 1541C>T COCA-CN 2 239990250 239990250 single base substitution G A missense_variant S930L 2789C>T COCA-CN 2 239990250 239990250 single base substitution G A upstream_gene_variant COCA-CN 2 239991256 239991256 single base substitution A G intron_variant COCA-CN 2 239991256 239991256 single base substitution A G upstream_gene_variant COCA-CN 2 239991354 239991354 single base substitution G A intron_variant COCA-CN 2 239991354 239991354 single base substitution G A upstream_gene_variant COCA-CN 2 239991377 239991377 single base substitution G A intron_variant COCA-CN 2 239991377 239991377 single base substitution G A upstream_gene_variant COCA-CN 2 240002886 240002886 single base substitution C T splice_region_variant COCA-CN 2 240002886 240002886 single base substitution C T upstream_gene_variant COCA-CN 2 240009291 240009291 single base substitution C T downstream_gene_variant COCA-CN 2 240009291 240009291 single base substitution C T exon_variant COCA-CN 2 240009291 240009291 single base substitution C T missense_variant R382H 1145G>A COCA-CN 2 240009291 240009291 single base substitution C T missense_variant R798H 2393G>A COCA-CN 2 240016675 240016675 single base substitution G T 3_prime_UTR_variant COCA-CN 2 240016675 240016675 single base substitution G T exon_variant COCA-CN 2 240016675 240016675 single base substitution G T intron_variant COCA-CN 2 240016749 240016749 single base substitution G A exon_variant COCA-CN 2 240016749 240016749 single base substitution G A missense_variant S325L 974C>T COCA-CN 2 240016749 240016749 single base substitution G A missense_variant S715L 2144C>T COCA-CN 2 240016749 240016749 single base substitution G A missense_variant S741L 2222C>T COCA-CN 2 240046481 240046481 single base substitution T C downstream_gene_variant COCA-CN 2 240046481 240046481 single base substitution T C intron_variant COCA-CN 2 240046492 240046492 single base substitution T C downstream_gene_variant COCA-CN 2 240046492 240046492 single base substitution T C intron_variant COCA-CN 2 240046510 240046510 single base substitution G A downstream_gene_variant COCA-CN 2 240046510 240046510 single base substitution G A intron_variant COCA-CN 2 240046616 240046616 single base substitution T C downstream_gene_variant COCA-CN 2 240046616 240046616 single base substitution T C intron_variant COCA-CN 2 240061403 240061403 single base substitution C T 5_prime_UTR_variant COCA-CN 2 240061403 240061403 single base substitution C T exon_variant COCA-CN 2 240061403 240061403 single base substitution C T missense_variant A288T 862G>A COCA-CN 2 240061403 240061403 single base substitution C T missense_variant A319T 955G>A COCA-CN 2 240061403 240061403 single base substitution C T missense_variant A62T 184G>A COCA-CN 2 240084004 240084004 single base substitution C T downstream_gene_variant COCA-CN 2 240084004 240084004 single base substitution C T intron_variant COCA-CN 2 240085403 240085403 single base substitution C A downstream_gene_variant COCA-CN 2 240085403 240085403 single base substitution C A intron_variant COCA-CN 2 240098068 240098068 single base substitution G A downstream_gene_variant COCA-CN 2 240098068 240098068 single base substitution G A intron_variant COCA-CN 2 240111757 240111757 single base substitution C T exon_variant COCA-CN 2 240111757 240111757 single base substitution C T synonymous_variant A10A 30G>A COCA-CN 2 240111757 240111757 single base substitution C T synonymous_variant A37A 111G>A COCA-CN 2 240111757 240111757 single base substitution C T synonymous_variant A6A 18G>A COCA-CN 2 240111758 240111758 single base substitution G A exon_variant COCA-CN 2 240111758 240111758 single base substitution G A missense_variant A10V 29C>T COCA-CN 2 240111758 240111758 single base substitution G A missense_variant A37V 110C>T COCA-CN 2 240111758 240111758 single base substitution G A missense_variant A6V 17C>T COCA-CN 2 240111851 240111851 single base substitution A C intron_variant COCA-CN 2 240112701 240112701 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 2 240112701 240112701 single base substitution G T intron_variant COCA-CN 2 240112718 240112718 single base substitution C T 5_prime_UTR_variant COCA-CN 2 240112718 240112718 single base substitution C T intron_variant COCA-CN 2 240204069 240204069 single base substitution C T intron_variant COCA-CN 2 240323737 240323737 single base substitution C A upstream_gene_variant COCA-CN 2 240324053 240324053 single base substitution T G upstream_gene_variant EOPC-DE 2 239991493 239991493 single base substitution G T intron_variant EOPC-DE 2 239991493 239991493 single base substitution G T upstream_gene_variant EOPC-DE 2 240007454 240007454 single base substitution T G downstream_gene_variant EOPC-DE 2 240007454 240007454 single base substitution T G intron_variant EOPC-DE 2 240007454 240007454 single base substitution T G upstream_gene_variant EOPC-DE 2 240008119 240008119 single base substitution C T downstream_gene_variant EOPC-DE 2 240008119 240008119 single base substitution C T intron_variant EOPC-DE 2 240023565 240023565 single base substitution C A downstream_gene_variant EOPC-DE 2 240023565 240023565 single base substitution C A intron_variant EOPC-DE 2 240026177 240026177 single base substitution C T intron_variant EOPC-DE 2 240026177 240026177 single base substitution C T upstream_gene_variant EOPC-DE 2 240027097 240027097 single base substitution C T intron_variant EOPC-DE 2 240027097 240027097 single base substitution C T upstream_gene_variant EOPC-DE 2 240126432 240126432 single base substitution G C intron_variant EOPC-DE 2 240287644 240287644 single base substitution T C intron_variant ESAD-UK 2 239965695 239965695 single base substitution G A downstream_gene_variant ESAD-UK 2 239966088 239966088 single base substitution C A downstream_gene_variant ESAD-UK 2 239966783 239966783 single base substitution G A downstream_gene_variant ESAD-UK 2 239967564 239967564 single base substitution T C downstream_gene_variant ESAD-UK 2 239969601 239969601 single base substitution C T downstream_gene_variant ESAD-UK 2 239970328 239970328 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 239970328 239970328 single base substitution G A downstream_gene_variant ESAD-UK 2 239970353 239970353 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 2 239970353 239970353 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 239971145 239971145 single base substitution T A 3_prime_UTR_variant ESAD-UK 2 239971145 239971145 single base substitution T A downstream_gene_variant ESAD-UK 2 239976117 239976117 single base substitution C T downstream_gene_variant ESAD-UK 2 239976117 239976117 single base substitution C T intron_variant ESAD-UK 2 239976542 239976542 single base substitution G A downstream_gene_variant ESAD-UK 2 239976542 239976542 single base substitution G A intron_variant ESAD-UK 2 239977646 239977646 single base substitution G A intron_variant ESAD-UK 2 239979674 239979674 single base substitution T C intron_variant ESAD-UK 2 239987125 239987125 single base substitution G A intron_variant ESAD-UK 2 239989541 239989541 single base substitution C T intron_variant ESAD-UK 2 239989541 239989541 single base substitution C T upstream_gene_variant ESAD-UK 2 239991501 239991501 single base substitution G A intron_variant ESAD-UK 2 239991501 239991501 single base substitution G A upstream_gene_variant ESAD-UK 2 239992166 239992166 single base substitution G A intron_variant ESAD-UK 2 239992166 239992166 single base substitution G A upstream_gene_variant ESAD-UK 2 239995437 239995437 single base substitution C T intron_variant ESAD-UK 2 239999002 239999002 single base substitution G A downstream_gene_variant ESAD-UK 2 239999002 239999002 single base substitution G A intron_variant ESAD-UK 2 240000601 240000601 single base substitution T G downstream_gene_variant ESAD-UK 2 240000601 240000601 single base substitution T G intron_variant ESAD-UK 2 240000644 240000644 single base substitution C T downstream_gene_variant ESAD-UK 2 240000644 240000644 single base substitution C T intron_variant ESAD-UK 2 240000758 240000758 single base substitution C T downstream_gene_variant ESAD-UK 2 240000758 240000758 single base substitution C T intron_variant ESAD-UK 2 240000851 240000851 single base substitution C T downstream_gene_variant ESAD-UK 2 240000851 240000851 single base substitution C T intron_variant ESAD-UK 2 240001168 240001168 single base substitution C T downstream_gene_variant ESAD-UK 2 240001168 240001168 single base substitution C T intron_variant ESAD-UK 2 240002411 240002411 single base substitution C A downstream_gene_variant ESAD-UK 2 240002411 240002411 single base substitution C A intron_variant ESAD-UK 2 240003769 240003769 single base substitution C T intron_variant ESAD-UK 2 240003769 240003769 single base substitution C T upstream_gene_variant ESAD-UK 2 240004912 240004912 single base substitution C T intron_variant ESAD-UK 2 240004912 240004912 single base substitution C T upstream_gene_variant ESAD-UK 2 240006668 240006669 deletion of <=200bp CA - downstream_gene_variant ESAD-UK 2 240006668 240006669 deletion of <=200bp CA - intron_variant ESAD-UK 2 240006668 240006669 deletion of <=200bp CA - upstream_gene_variant ESAD-UK 2 240006863 240006863 single base substitution C T downstream_gene_variant ESAD-UK 2 240006863 240006863 single base substitution C T intron_variant ESAD-UK 2 240006863 240006863 single base substitution C T upstream_gene_variant ESAD-UK 2 240007214 240007214 single base substitution C G downstream_gene_variant ESAD-UK 2 240007214 240007214 single base substitution C G intron_variant ESAD-UK 2 240007214 240007214 single base substitution C G upstream_gene_variant ESAD-UK 2 240009387 240009387 single base substitution C T downstream_gene_variant ESAD-UK 2 240009387 240009387 single base substitution C T intron_variant ESAD-UK 2 240010499 240010499 single base substitution C A downstream_gene_variant ESAD-UK 2 240010499 240010499 single base substitution C A intron_variant ESAD-UK 2 240014747 240014747 single base substitution G A downstream_gene_variant ESAD-UK 2 240014747 240014747 single base substitution G A intron_variant ESAD-UK 2 240015681 240015681 single base substitution C G downstream_gene_variant ESAD-UK 2 240015681 240015681 single base substitution C G intron_variant ESAD-UK 2 240015698 240015698 single base substitution A G downstream_gene_variant ESAD-UK 2 240015698 240015698 single base substitution A G intron_variant ESAD-UK 2 240016665 240016665 single base substitution G C 3_prime_UTR_variant ESAD-UK 2 240016665 240016665 single base substitution G C exon_variant ESAD-UK 2 240016665 240016665 single base substitution G C intron_variant ESAD-UK 2 240020898 240020898 single base substitution C T downstream_gene_variant ESAD-UK 2 240020898 240020898 single base substitution C T intron_variant ESAD-UK 2 240024435 240024435 single base substitution A C exon_variant ESAD-UK 2 240024435 240024435 single base substitution A C intron_variant ESAD-UK 2 240030919 240030919 single base substitution C T intron_variant ESAD-UK 2 240030919 240030919 single base substitution C T upstream_gene_variant ESAD-UK 2 240031917 240031917 single base substitution G C intron_variant ESAD-UK 2 240031917 240031917 single base substitution G C upstream_gene_variant ESAD-UK 2 240033246 240033246 single base substitution G A exon_variant ESAD-UK 2 240033246 240033246 single base substitution G A missense_variant P231S 691C>T ESAD-UK 2 240033246 240033246 single base substitution G A missense_variant P621S 1861C>T ESAD-UK 2 240033246 240033246 single base substitution G A missense_variant P647S 1939C>T ESAD-UK 2 240033246 240033246 single base substitution G A upstream_gene_variant ESAD-UK 2 240033561 240033561 single base substitution C T intron_variant ESAD-UK 2 240033561 240033561 single base substitution C T upstream_gene_variant ESAD-UK 2 240038747 240038747 single base substitution T G intron_variant ESAD-UK 2 240039132 240039132 single base substitution C T intron_variant ESAD-UK 2 240039133 240039133 single base substitution C A intron_variant ESAD-UK 2 240039691 240039691 single base substitution C G intron_variant ESAD-UK 2 240040071 240040071 single base substitution G A intron_variant ESAD-UK 2 240040237 240040237 single base substitution G A intron_variant ESAD-UK 2 240041021 240041023 deletion of <=200bp GGA - intron_variant ESAD-UK 2 240042930 240042930 single base substitution G T intron_variant ESAD-UK 2 240043975 240043975 single base substitution G C downstream_gene_variant ESAD-UK 2 240043975 240043975 single base substitution G C intron_variant ESAD-UK 2 240044185 240044185 single base substitution C A downstream_gene_variant ESAD-UK 2 240044185 240044185 single base substitution C A intron_variant ESAD-UK 2 240047778 240047778 single base substitution C T downstream_gene_variant ESAD-UK 2 240047778 240047778 single base substitution C T intron_variant ESAD-UK 2 240047932 240047932 single base substitution C A downstream_gene_variant ESAD-UK 2 240047932 240047932 single base substitution C A intron_variant ESAD-UK 2 240050043 240050043 single base substitution G C intron_variant ESAD-UK 2 240050233 240050233 single base substitution T A intron_variant ESAD-UK 2 240050234 240050234 single base substitution A T intron_variant ESAD-UK 2 240055842 240055842 single base substitution G A downstream_gene_variant ESAD-UK 2 240055842 240055842 single base substitution G A intron_variant ESAD-UK 2 240058104 240058104 single base substitution T C intron_variant ESAD-UK 2 240059430 240059430 single base substitution G A intron_variant ESAD-UK 2 240061902 240061902 single base substitution C T intron_variant ESAD-UK 2 240061905 240061905 single base substitution C T intron_variant ESAD-UK 2 240063332 240063332 single base substitution G A intron_variant ESAD-UK 2 240063332 240063332 single base substitution G A upstream_gene_variant ESAD-UK 2 240063545 240063545 insertion of <=200bp - T intron_variant ESAD-UK 2 240063545 240063545 insertion of <=200bp - T upstream_gene_variant ESAD-UK 2 240065852 240065852 single base substitution G A intron_variant ESAD-UK 2 240065852 240065852 single base substitution G A upstream_gene_variant ESAD-UK 2 240067156 240067156 single base substitution A G intron_variant ESAD-UK 2 240067156 240067156 single base substitution A G upstream_gene_variant ESAD-UK 2 240067495 240067495 single base substitution C T intron_variant ESAD-UK 2 240067495 240067495 single base substitution C T upstream_gene_variant ESAD-UK 2 240069520 240069520 single base substitution C A intron_variant ESAD-UK 2 240070528 240070528 single base substitution C T intron_variant ESAD-UK 2 240073333 240073333 single base substitution G A intron_variant ESAD-UK 2 240073732 240073732 single base substitution G A intron_variant ESAD-UK 2 240075412 240075412 single base substitution C G intron_variant ESAD-UK 2 240076110 240076110 single base substitution G T intron_variant ESAD-UK 2 240076644 240076644 single base substitution C T exon_variant ESAD-UK 2 240076644 240076644 single base substitution C T intron_variant ESAD-UK 2 240077816 240077816 single base substitution G A intron_variant ESAD-UK 2 240077816 240077816 single base substitution G A upstream_gene_variant ESAD-UK 2 240080540 240080540 single base substitution G A downstream_gene_variant ESAD-UK 2 240080540 240080540 single base substitution G A intron_variant ESAD-UK 2 240080540 240080540 single base substitution G A upstream_gene_variant ESAD-UK 2 240082596 240082596 single base substitution G A downstream_gene_variant ESAD-UK 2 240082596 240082596 single base substitution G A intron_variant ESAD-UK 2 240082833 240082833 single base substitution G A downstream_gene_variant ESAD-UK 2 240082833 240082833 single base substitution G A intron_variant ESAD-UK 2 240083465 240083465 single base substitution G T downstream_gene_variant ESAD-UK 2 240083465 240083465 single base substitution G T intron_variant ESAD-UK 2 240083504 240083504 single base substitution T G downstream_gene_variant ESAD-UK 2 240083504 240083504 single base substitution T G intron_variant ESAD-UK 2 240085151 240085151 single base substitution C A downstream_gene_variant ESAD-UK 2 240085151 240085151 single base substitution C A intron_variant ESAD-UK 2 240088097 240088097 single base substitution T A intron_variant ESAD-UK 2 240088429 240088429 single base substitution G A intron_variant ESAD-UK 2 240090088 240090088 single base substitution G A intron_variant ESAD-UK 2 240090648 240090648 single base substitution T G intron_variant ESAD-UK 2 240091396 240091396 single base substitution C A intron_variant ESAD-UK 2 240095367 240095367 single base substitution A C downstream_gene_variant ESAD-UK 2 240095367 240095367 single base substitution A C intron_variant ESAD-UK 2 240095406 240095406 single base substitution A C downstream_gene_variant ESAD-UK 2 240095406 240095406 single base substitution A C intron_variant ESAD-UK 2 240096003 240096003 single base substitution G C downstream_gene_variant ESAD-UK 2 240096003 240096003 single base substitution G C intron_variant ESAD-UK 2 240098156 240098156 single base substitution C T exon_variant ESAD-UK 2 240098156 240098156 single base substitution C T missense_variant R117Q 350G>A ESAD-UK 2 240098156 240098156 single base substitution C T missense_variant R121Q 362G>A ESAD-UK 2 240098156 240098156 single base substitution C T missense_variant R148Q 443G>A ESAD-UK 2 240098414 240098414 insertion of <=200bp - A intron_variant ESAD-UK 2 240101446 240101446 single base substitution A G intron_variant ESAD-UK 2 240103196 240103196 single base substitution A G downstream_gene_variant ESAD-UK 2 240103196 240103196 single base substitution A G intron_variant ESAD-UK 2 240106997 240106997 single base substitution G A downstream_gene_variant ESAD-UK 2 240106997 240106997 single base substitution G A intron_variant ESAD-UK 2 240107509 240107509 single base substitution T C downstream_gene_variant ESAD-UK 2 240107509 240107509 single base substitution T C intron_variant ESAD-UK 2 240107548 240107548 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 240107548 240107548 deletion of <=200bp A - intron_variant ESAD-UK 2 240109023 240109023 single base substitution C G intron_variant ESAD-UK 2 240111044 240111044 deletion of <=200bp A - intron_variant ESAD-UK 2 240111359 240111359 single base substitution G A intron_variant ESAD-UK 2 240111695 240111695 single base substitution G A exon_variant ESAD-UK 2 240111695 240111695 single base substitution G A missense_variant S27L 80C>T ESAD-UK 2 240111695 240111695 single base substitution G A missense_variant S31L 92C>T ESAD-UK 2 240111695 240111695 single base substitution G A missense_variant S58L 173C>T ESAD-UK 2 240111994 240111994 single base substitution C A intron_variant ESAD-UK 2 240114382 240114382 single base substitution G A intron_variant ESAD-UK 2 240114382 240114382 single base substitution G A upstream_gene_variant ESAD-UK 2 240114797 240114797 single base substitution G A intron_variant ESAD-UK 2 240114797 240114797 single base substitution G A upstream_gene_variant ESAD-UK 2 240116200 240116200 single base substitution C T intron_variant ESAD-UK 2 240116200 240116200 single base substitution C T upstream_gene_variant ESAD-UK 2 240116747 240116747 single base substitution G T intron_variant ESAD-UK 2 240116747 240116747 single base substitution G T upstream_gene_variant ESAD-UK 2 240119957 240119957 single base substitution G C intron_variant ESAD-UK 2 240126434 240126434 single base substitution T G intron_variant ESAD-UK 2 240132897 240132897 single base substitution A G intron_variant ESAD-UK 2 240135462 240135462 single base substitution G C intron_variant ESAD-UK 2 240135825 240135825 single base substitution A G intron_variant ESAD-UK 2 240137896 240137897 deletion of <=200bp AC - intron_variant ESAD-UK 2 240138421 240138421 single base substitution T G intron_variant ESAD-UK 2 240139252 240139252 single base substitution G A intron_variant ESAD-UK 2 240141344 240141344 single base substitution T A intron_variant ESAD-UK 2 240141345 240141345 single base substitution A T intron_variant ESAD-UK 2 240142495 240142495 deletion of <=200bp A - intron_variant ESAD-UK 2 240144018 240144018 single base substitution C A intron_variant ESAD-UK 2 240146461 240146461 single base substitution A G intron_variant ESAD-UK 2 240148362 240148362 insertion of <=200bp - G intron_variant ESAD-UK 2 240149061 240149061 single base substitution G A intron_variant ESAD-UK 2 240149229 240149229 single base substitution G A intron_variant ESAD-UK 2 240149266 240149266 single base substitution C T intron_variant ESAD-UK 2 240150614 240150614 single base substitution G C intron_variant ESAD-UK 2 240151255 240151255 single base substitution T A intron_variant ESAD-UK 2 240154476 240154476 single base substitution C T downstream_gene_variant ESAD-UK 2 240154476 240154476 single base substitution C T intron_variant ESAD-UK 2 240154542 240154542 single base substitution A T downstream_gene_variant ESAD-UK 2 240154542 240154542 single base substitution A T intron_variant ESAD-UK 2 240154555 240154555 single base substitution T C downstream_gene_variant ESAD-UK 2 240154555 240154555 single base substitution T C intron_variant ESAD-UK 2 240159837 240159837 single base substitution C T intron_variant ESAD-UK 2 240159837 240159837 single base substitution C T upstream_gene_variant ESAD-UK 2 240160349 240160349 single base substitution T G intron_variant ESAD-UK 2 240160349 240160349 single base substitution T G upstream_gene_variant ESAD-UK 2 240161250 240161250 single base substitution G A intron_variant ESAD-UK 2 240161250 240161250 single base substitution G A upstream_gene_variant ESAD-UK 2 240161416 240161416 single base substitution A T intron_variant ESAD-UK 2 240161416 240161416 single base substitution A T upstream_gene_variant ESAD-UK 2 240161530 240161530 single base substitution G C intron_variant ESAD-UK 2 240161530 240161530 single base substitution G C upstream_gene_variant ESAD-UK 2 240162376 240162376 insertion of <=200bp - T intron_variant ESAD-UK 2 240162376 240162376 insertion of <=200bp - T upstream_gene_variant ESAD-UK 2 240162556 240162556 single base substitution G A intron_variant ESAD-UK 2 240162556 240162556 single base substitution G A upstream_gene_variant ESAD-UK 2 240166188 240166188 single base substitution G T intron_variant ESAD-UK 2 240167859 240167859 single base substitution A C intron_variant ESAD-UK 2 240169113 240169113 insertion of <=200bp - TTTA intron_variant ESAD-UK 2 240171695 240171695 single base substitution C A intron_variant ESAD-UK 2 240171975 240171975 single base substitution C T intron_variant ESAD-UK 2 240171985 240171985 single base substitution G A intron_variant ESAD-UK 2 240173301 240173301 single base substitution T C intron_variant ESAD-UK 2 240174574 240174574 single base substitution G A intron_variant ESAD-UK 2 240174700 240174700 single base substitution T A intron_variant ESAD-UK 2 240175363 240175363 single base substitution G C intron_variant ESAD-UK 2 240175920 240175920 single base substitution A G intron_variant ESAD-UK 2 240176737 240176737 single base substitution G T intron_variant ESAD-UK 2 240179542 240179542 deletion of <=200bp A - intron_variant ESAD-UK 2 240180731 240180731 single base substitution A G intron_variant ESAD-UK 2 240182816 240182816 single base substitution G T intron_variant ESAD-UK 2 240184702 240184702 single base substitution G A intron_variant ESAD-UK 2 240184950 240184950 single base substitution C T intron_variant ESAD-UK 2 240185744 240185744 single base substitution A G intron_variant ESAD-UK 2 240188639 240188639 single base substitution A G intron_variant ESAD-UK 2 240188752 240188752 single base substitution G A intron_variant ESAD-UK 2 240189599 240189599 single base substitution G T intron_variant ESAD-UK 2 240189610 240189610 single base substitution A G intron_variant ESAD-UK 2 240189767 240189767 single base substitution A C intron_variant ESAD-UK 2 240189942 240189942 single base substitution C A intron_variant ESAD-UK 2 240190488 240190488 single base substitution G T intron_variant ESAD-UK 2 240192231 240192231 single base substitution T C intron_variant ESAD-UK 2 240192845 240192845 single base substitution G A intron_variant ESAD-UK 2 240197554 240197554 single base substitution C T intron_variant ESAD-UK 2 240197962 240197962 single base substitution G A intron_variant ESAD-UK 2 240199082 240199082 single base substitution C T intron_variant ESAD-UK 2 240205575 240205575 single base substitution G T intron_variant ESAD-UK 2 240209159 240209159 single base substitution G A intron_variant ESAD-UK 2 240210260 240210260 insertion of <=200bp - C intron_variant ESAD-UK 2 240210669 240210669 single base substitution C T intron_variant ESAD-UK 2 240212029 240212029 single base substitution C T intron_variant ESAD-UK 2 240212205 240212205 single base substitution A T intron_variant ESAD-UK 2 240215358 240215358 single base substitution C T intron_variant ESAD-UK 2 240216292 240216292 single base substitution G A intron_variant ESAD-UK 2 240217894 240217894 single base substitution C G intron_variant ESAD-UK 2 240221658 240221658 single base substitution G A intron_variant ESAD-UK 2 240221658 240221658 single base substitution G A upstream_gene_variant ESAD-UK 2 240222149 240222149 single base substitution G A intron_variant ESAD-UK 2 240222149 240222149 single base substitution G A upstream_gene_variant ESAD-UK 2 240223685 240223685 single base substitution C A intron_variant ESAD-UK 2 240223685 240223685 single base substitution C A upstream_gene_variant ESAD-UK 2 240223923 240223923 single base substitution G T intron_variant ESAD-UK 2 240223923 240223923 single base substitution G T upstream_gene_variant ESAD-UK 2 240225026 240225026 single base substitution C T intron_variant ESAD-UK 2 240225026 240225026 single base substitution C T upstream_gene_variant ESAD-UK 2 240225540 240225540 single base substitution C T intron_variant ESAD-UK 2 240226251 240226251 single base substitution T C intron_variant ESAD-UK 2 240226780 240226780 single base substitution G C intron_variant ESAD-UK 2 240229304 240229304 single base substitution T G intron_variant ESAD-UK 2 240229696 240229696 single base substitution G A intron_variant ESAD-UK 2 240230065 240230065 single base substitution A T intron_variant ESAD-UK 2 240232606 240232606 single base substitution C T intron_variant ESAD-UK 2 240232606 240232606 single base substitution C T upstream_gene_variant ESAD-UK 2 240235682 240235682 single base substitution A C intron_variant ESAD-UK 2 240235682 240235682 single base substitution A C upstream_gene_variant ESAD-UK 2 240236963 240236963 single base substitution C T intron_variant ESAD-UK 2 240237126 240237126 single base substitution G C intron_variant ESAD-UK 2 240237602 240237602 single base substitution C A intron_variant ESAD-UK 2 240240606 240240606 single base substitution G C intron_variant ESAD-UK 2 240240626 240240626 single base substitution G A intron_variant ESAD-UK 2 240241048 240241048 single base substitution G T intron_variant ESAD-UK 2 240242411 240242411 single base substitution A C intron_variant ESAD-UK 2 240243836 240243836 single base substitution A C intron_variant ESAD-UK 2 240245606 240245606 single base substitution A G intron_variant ESAD-UK 2 240249768 240249768 single base substitution C T intron_variant ESAD-UK 2 240250223 240250223 insertion of <=200bp - CAGAATGC intron_variant ESAD-UK 2 240251447 240251447 single base substitution A G intron_variant ESAD-UK 2 240252888 240252888 single base substitution G T intron_variant ESAD-UK 2 240253507 240253507 single base substitution G T intron_variant ESAD-UK 2 240256579 240256579 single base substitution G A intron_variant ESAD-UK 2 240257848 240257848 single base substitution G A intron_variant ESAD-UK 2 240258606 240258606 single base substitution C T intron_variant ESAD-UK 2 240259075 240259075 single base substitution C T intron_variant ESAD-UK 2 240259629 240259629 single base substitution A C intron_variant ESAD-UK 2 240259714 240259714 single base substitution C G intron_variant ESAD-UK 2 240262417 240262417 single base substitution G A intron_variant ESAD-UK 2 240262565 240262565 single base substitution A C intron_variant ESAD-UK 2 240264365 240264365 single base substitution G A intron_variant ESAD-UK 2 240265643 240265643 single base substitution T G intron_variant ESAD-UK 2 240266764 240266764 single base substitution T G intron_variant ESAD-UK 2 240267306 240267306 single base substitution C A intron_variant ESAD-UK 2 240269785 240269785 single base substitution C G intron_variant ESAD-UK 2 240271800 240271800 single base substitution A G intron_variant ESAD-UK 2 240272818 240272818 single base substitution A G intron_variant ESAD-UK 2 240273657 240273657 single base substitution G A intron_variant ESAD-UK 2 240274452 240274452 single base substitution C T 5_prime_UTR_variant ESAD-UK 2 240274452 240274452 single base substitution C T exon_variant ESAD-UK 2 240275061 240275061 single base substitution G A intron_variant ESAD-UK 2 240276001 240276001 single base substitution G A intron_variant ESAD-UK 2 240276787 240276787 single base substitution C T intron_variant ESAD-UK 2 240278618 240278618 single base substitution A G intron_variant ESAD-UK 2 240281650 240281650 single base substitution G A intron_variant ESAD-UK 2 240285798 240285798 single base substitution C T intron_variant ESAD-UK 2 240286070 240286070 single base substitution A T intron_variant ESAD-UK 2 240286165 240286165 single base substitution A G intron_variant ESAD-UK 2 240286595 240286595 single base substitution G A intron_variant ESAD-UK 2 240286954 240286954 single base substitution C A intron_variant ESAD-UK 2 240287564 240287564 single base substitution C T intron_variant ESAD-UK 2 240287716 240287716 single base substitution G A intron_variant ESAD-UK 2 240289870 240289870 single base substitution C G intron_variant ESAD-UK 2 240290981 240290981 single base substitution G A intron_variant ESAD-UK 2 240291804 240291804 single base substitution G A intron_variant ESAD-UK 2 240293037 240293037 single base substitution C T intron_variant ESAD-UK 2 240295735 240295735 single base substitution C T intron_variant ESAD-UK 2 240300814 240300814 insertion of <=200bp - CCC intron_variant ESAD-UK 2 240303199 240303199 single base substitution T C intron_variant ESAD-UK 2 240306558 240306558 single base substitution C T intron_variant ESAD-UK 2 240306631 240306631 single base substitution C T intron_variant ESAD-UK 2 240308895 240308895 single base substitution G A intron_variant ESAD-UK 2 240308914 240308914 single base substitution C A intron_variant ESAD-UK 2 240309147 240309147 single base substitution C T intron_variant ESAD-UK 2 240311326 240311326 single base substitution G A intron_variant ESAD-UK 2 240313254 240313254 single base substitution G C intron_variant ESAD-UK 2 240317757 240317757 single base substitution G C intron_variant ESAD-UK 2 240318010 240318010 single base substitution G A intron_variant ESAD-UK 2 240318020 240318020 single base substitution G A intron_variant ESAD-UK 2 240318079 240318079 single base substitution G A intron_variant ESAD-UK 2 240318151 240318151 single base substitution G A intron_variant ESAD-UK 2 240318209 240318209 single base substitution G T intron_variant ESAD-UK 2 240318244 240318244 single base substitution G C intron_variant ESAD-UK 2 240318282 240318282 single base substitution G A intron_variant ESAD-UK 2 240323819 240323819 single base substitution C T upstream_gene_variant ESAD-UK 2 240325179 240325179 single base substitution G A upstream_gene_variant ESAD-UK 2 240326254 240326254 single base substitution C T upstream_gene_variant ESAD-UK 2 240326334 240326334 single base substitution C T upstream_gene_variant ESAD-UK 2 240327055 240327055 insertion of <=200bp - T upstream_gene_variant ESAD-UK 2 240327592 240327592 single base substitution G A upstream_gene_variant ESAD-UK 2 240328067 240328067 single base substitution G A upstream_gene_variant ESCA-CN 2 240003837 240003837 single base substitution G A exon_variant ESCA-CN 2 240003837 240003837 single base substitution G A synonymous_variant D450D 1350C>T ESCA-CN 2 240003837 240003837 single base substitution G A synonymous_variant D866D 2598C>T ESCA-CN 2 240003837 240003837 single base substitution G A upstream_gene_variant ESCA-CN 2 240016808 240016808 single base substitution G A intron_variant ESCA-CN 2 240029490 240029490 single base substitution C T intron_variant ESCA-CN 2 240029490 240029490 single base substitution C T upstream_gene_variant ESCA-CN 2 240033524 240033524 single base substitution C A intron_variant ESCA-CN 2 240033524 240033524 single base substitution C A upstream_gene_variant ESCA-CN 2 240056124 240056124 single base substitution G T 5_prime_UTR_variant ESCA-CN 2 240056124 240056124 single base substitution G T exon_variant ESCA-CN 2 240056124 240056124 single base substitution G T missense_variant Q114K 340C>A ESCA-CN 2 240056124 240056124 single base substitution G T missense_variant Q340K 1018C>A ESCA-CN 2 240056124 240056124 single base substitution G T missense_variant Q371K 1111C>A ESCA-CN 2 240111555 240111555 single base substitution C T exon_variant ESCA-CN 2 240111555 240111555 single base substitution C T missense_variant E105K 313G>A ESCA-CN 2 240111555 240111555 single base substitution C T missense_variant E74K 220G>A ESCA-CN 2 240111555 240111555 single base substitution C T missense_variant E78K 232G>A ESCA-CN 2 240169541 240169541 single base substitution G C intron_variant GBM-US 2 240002804 240002804 single base substitution A G exon_variant GBM-US 2 240002804 240002804 single base substitution A G synonymous_variant L492L 1474T>C GBM-US 2 240002804 240002804 single base substitution A G synonymous_variant L908L 2722T>C GBM-US 2 240061423 240061423 single base substitution G A 5_prime_UTR_variant GBM-US 2 240061423 240061423 single base substitution G A exon_variant GBM-US 2 240061423 240061423 single base substitution G A missense_variant A281V 842C>T GBM-US 2 240061423 240061423 single base substitution G A missense_variant A312V 935C>T GBM-US 2 240061423 240061423 single base substitution G A missense_variant A55V 164C>T KIRC-US 2 240011717 240011717 single base substitution T C downstream_gene_variant KIRC-US 2 240011717 240011717 single base substitution T C exon_variant KIRC-US 2 240011717 240011717 single base substitution T C synonymous_variant T371T 1113A>G KIRC-US 2 240011717 240011717 single base substitution T C synonymous_variant T787T 2361A>G KIRC-US 2 240111615 240111615 single base substitution G C exon_variant KIRC-US 2 240111615 240111615 single base substitution G C missense_variant Q54E 160C>G KIRC-US 2 240111615 240111615 single base substitution G C missense_variant Q58E 172C>G KIRC-US 2 240111615 240111615 single base substitution G C missense_variant Q85E 253C>G KIRP-US 2 239988463 239988463 single base substitution A T exon_variant KIRP-US 2 239988463 239988463 single base substitution A T synonymous_variant I565I 1695T>A KIRP-US 2 239988463 239988463 single base substitution A T synonymous_variant I71I 213T>A KIRP-US 2 239988463 239988463 single base substitution A T synonymous_variant I981I 2943T>A LAML-KR 2 239990543 239990543 single base substitution G T intron_variant LAML-KR 2 239990543 239990543 single base substitution G T upstream_gene_variant LAML-KR 2 239990544 239990544 single base substitution A G intron_variant LAML-KR 2 239990544 239990544 single base substitution A G upstream_gene_variant LAML-KR 2 239990602 239990602 single base substitution T G intron_variant LAML-KR 2 239990602 239990602 single base substitution T G upstream_gene_variant LAML-KR 2 239991043 239991043 single base substitution G T intron_variant LAML-KR 2 239991043 239991043 single base substitution G T upstream_gene_variant LAML-KR 2 239991101 239991101 single base substitution T G intron_variant LAML-KR 2 239991101 239991101 single base substitution T G upstream_gene_variant LAML-KR 2 239991180 239991180 single base substitution G T intron_variant LAML-KR 2 239991180 239991180 single base substitution G T upstream_gene_variant LAML-KR 2 239991181 239991181 single base substitution A G intron_variant LAML-KR 2 239991181 239991181 single base substitution A G upstream_gene_variant LAML-KR 2 239991444 239991444 single base substitution G T intron_variant LAML-KR 2 239991444 239991444 single base substitution G T upstream_gene_variant LAML-KR 2 240007463 240007463 single base substitution A G downstream_gene_variant LAML-KR 2 240007463 240007463 single base substitution A G intron_variant LAML-KR 2 240007463 240007463 single base substitution A G upstream_gene_variant LAML-KR 2 240007475 240007475 single base substitution T C downstream_gene_variant LAML-KR 2 240007475 240007475 single base substitution T C intron_variant LAML-KR 2 240007475 240007475 single base substitution T C upstream_gene_variant LAML-KR 2 240007479 240007479 single base substitution T C downstream_gene_variant LAML-KR 2 240007479 240007479 single base substitution T C intron_variant LAML-KR 2 240007479 240007479 single base substitution T C upstream_gene_variant LAML-KR 2 240007519 240007519 single base substitution T G downstream_gene_variant LAML-KR 2 240007519 240007519 single base substitution T G intron_variant LAML-KR 2 240007519 240007519 single base substitution T G upstream_gene_variant LAML-KR 2 240008049 240008049 single base substitution C T downstream_gene_variant LAML-KR 2 240008049 240008049 single base substitution C T intron_variant LAML-KR 2 240008119 240008119 single base substitution C T downstream_gene_variant LAML-KR 2 240008119 240008119 single base substitution C T intron_variant LAML-KR 2 240042105 240042105 single base substitution A G intron_variant LAML-KR 2 240046200 240046200 single base substitution A G downstream_gene_variant LAML-KR 2 240046200 240046200 single base substitution A G intron_variant LAML-KR 2 240046714 240046714 single base substitution C T downstream_gene_variant LAML-KR 2 240046714 240046714 single base substitution C T intron_variant LAML-KR 2 240064596 240064596 single base substitution A C intron_variant LAML-KR 2 240064596 240064596 single base substitution A C upstream_gene_variant LAML-KR 2 240064602 240064602 single base substitution G A intron_variant LAML-KR 2 240064602 240064602 single base substitution G A upstream_gene_variant LAML-KR 2 240064653 240064653 single base substitution T C intron_variant LAML-KR 2 240064653 240064653 single base substitution T C upstream_gene_variant LAML-KR 2 240064654 240064654 single base substitution G C intron_variant LAML-KR 2 240064654 240064654 single base substitution G C upstream_gene_variant LAML-KR 2 240066417 240066417 single base substitution A G splice_region_variant LAML-KR 2 240066417 240066417 single base substitution A G upstream_gene_variant LAML-KR 2 240072304 240072304 single base substitution G A intron_variant LAML-KR 2 240072441 240072441 single base substitution G A intron_variant LAML-KR 2 240083731 240083731 single base substitution C T downstream_gene_variant LAML-KR 2 240083731 240083731 single base substitution C T intron_variant LAML-KR 2 240098002 240098002 single base substitution C T downstream_gene_variant LAML-KR 2 240098002 240098002 single base substitution C T intron_variant LAML-KR 2 240098010 240098010 single base substitution T C downstream_gene_variant LAML-KR 2 240098010 240098010 single base substitution T C intron_variant LAML-KR 2 240098012 240098012 single base substitution C T downstream_gene_variant LAML-KR 2 240098012 240098012 single base substitution C T intron_variant LAML-KR 2 240098017 240098017 single base substitution G A downstream_gene_variant LAML-KR 2 240098017 240098017 single base substitution G A intron_variant LAML-KR 2 240098023 240098023 single base substitution C A downstream_gene_variant LAML-KR 2 240098023 240098023 single base substitution C A intron_variant LAML-KR 2 240098027 240098027 single base substitution C T downstream_gene_variant LAML-KR 2 240098027 240098027 single base substitution C T intron_variant LAML-KR 2 240098030 240098030 single base substitution C T downstream_gene_variant LAML-KR 2 240098030 240098030 single base substitution C T intron_variant LAML-KR 2 240140254 240140254 single base substitution G C intron_variant LAML-KR 2 240140299 240140299 single base substitution C A intron_variant LAML-KR 2 240140453 240140453 single base substitution C G intron_variant LAML-KR 2 240153707 240153707 single base substitution T C downstream_gene_variant LAML-KR 2 240153707 240153707 single base substitution T C intron_variant LAML-KR 2 240154305 240154305 single base substitution C G downstream_gene_variant LAML-KR 2 240154305 240154305 single base substitution C G intron_variant LAML-KR 2 240154317 240154317 single base substitution T C downstream_gene_variant LAML-KR 2 240154317 240154317 single base substitution T C intron_variant LAML-KR 2 240202844 240202844 single base substitution A T intron_variant LAML-KR 2 240202904 240202904 single base substitution A T intron_variant LAML-KR 2 240203439 240203439 single base substitution A C intron_variant LAML-KR 2 240203957 240203957 single base substitution C T intron_variant LAML-KR 2 240203985 240203985 single base substitution T A intron_variant LAML-KR 2 240241281 240241281 single base substitution C T intron_variant LAML-KR 2 240267440 240267440 single base substitution A G intron_variant LAML-KR 2 240287776 240287776 single base substitution C T intron_variant LAML-KR 2 240287829 240287829 single base substitution A G intron_variant LAML-KR 2 240297821 240297821 single base substitution C A intron_variant LAML-KR 2 240297865 240297865 single base substitution C A intron_variant LGG-US 2 239975226 239975226 single base substitution C T downstream_gene_variant LGG-US 2 239975226 239975226 single base substitution C T missense_variant E1049K 3145G>A LGG-US 2 239975226 239975226 single base substitution C T missense_variant E139K 415G>A LGG-US 2 239975226 239975226 single base substitution C T missense_variant E633K 1897G>A LGG-US 2 239976491 239976491 single base substitution G A downstream_gene_variant LGG-US 2 239976491 239976491 single base substitution G A synonymous_variant P1009P 3027C>T LGG-US 2 239976491 239976491 single base substitution G A synonymous_variant P593P 1779C>T LGG-US 2 239976491 239976491 single base substitution G A synonymous_variant P99P 297C>T LGG-US 2 240111713 240111713 single base substitution C T exon_variant LGG-US 2 240111713 240111713 single base substitution C T missense_variant R21H 62G>A LGG-US 2 240111713 240111713 single base substitution C T missense_variant R25H 74G>A LGG-US 2 240111713 240111713 single base substitution C T missense_variant R52H 155G>A LIAD-FR 2 239975207 239975207 single base substitution G C downstream_gene_variant LIAD-FR 2 239975207 239975207 single base substitution G C missense_variant T1055R 3164C>G LIAD-FR 2 239975207 239975207 single base substitution G C missense_variant T145R 434C>G LIAD-FR 2 239975207 239975207 single base substitution G C missense_variant T639R 1916C>G LICA-FR 2 239967927 239967927 insertion of <=200bp - A downstream_gene_variant LICA-FR 2 239977901 239977901 single base substitution T G intron_variant LICA-FR 2 239988477 239988477 single base substitution C A exon_variant LICA-FR 2 239988477 239988477 single base substitution C A missense_variant D561Y 1681G>T LICA-FR 2 239988477 239988477 single base substitution C A missense_variant D67Y 199G>T LICA-FR 2 239988477 239988477 single base substitution C A missense_variant D977Y 2929G>T LICA-FR 2 239990205 239990205 single base substitution C T exon_variant LICA-FR 2 239990205 239990205 single base substitution C T missense_variant G529D 1586G>A LICA-FR 2 239990205 239990205 single base substitution C T missense_variant G945D 2834G>A LICA-FR 2 239990205 239990205 single base substitution C T upstream_gene_variant LICA-FR 2 240001364 240001364 single base substitution G A downstream_gene_variant LICA-FR 2 240001364 240001364 single base substitution G A intron_variant LICA-FR 2 240012128 240012129 deletion of <=200bp TT - downstream_gene_variant LICA-FR 2 240012128 240012129 deletion of <=200bp TT - intron_variant LICA-FR 2 240016208 240016208 single base substitution C A 3_prime_UTR_variant LICA-FR 2 240016208 240016208 single base substitution C A downstream_gene_variant LICA-FR 2 240016208 240016208 single base substitution C A intron_variant LICA-FR 2 240024500 240024500 single base substitution C T exon_variant LICA-FR 2 240024500 240024500 single base substitution C T synonymous_variant R314R 942G>A LICA-FR 2 240024500 240024500 single base substitution C T synonymous_variant R704R 2112G>A LICA-FR 2 240024500 240024500 single base substitution C T synonymous_variant R730R 2190G>A LICA-FR 2 240031306 240031308 deletion of <=200bp AAA - intron_variant LICA-FR 2 240031306 240031308 deletion of <=200bp AAA - upstream_gene_variant LICA-FR 2 240036523 240036523 single base substitution C T intron_variant LICA-FR 2 240042105 240042105 single base substitution A G intron_variant LICA-FR 2 240055314 240055314 single base substitution C A downstream_gene_variant LICA-FR 2 240055314 240055314 single base substitution C A intron_variant LICA-FR 2 240056116 240056116 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 2 240056116 240056116 single base substitution G A exon_variant LICA-FR 2 240056116 240056116 single base substitution G A synonymous_variant A116A 348C>T LICA-FR 2 240056116 240056116 single base substitution G A synonymous_variant A342A 1026C>T LICA-FR 2 240056116 240056116 single base substitution G A synonymous_variant A373A 1119C>T LICA-FR 2 240063808 240063808 single base substitution G A intron_variant LICA-FR 2 240063808 240063808 single base substitution G A upstream_gene_variant LICA-FR 2 240092866 240092866 deletion of <=200bp A - intron_variant LICA-FR 2 240108016 240108016 single base substitution T A downstream_gene_variant LICA-FR 2 240108016 240108016 single base substitution T A intron_variant LICA-FR 2 240111583 240111583 single base substitution C T exon_variant LICA-FR 2 240111583 240111583 single base substitution C T synonymous_variant R64R 192G>A LICA-FR 2 240111583 240111583 single base substitution C T synonymous_variant R68R 204G>A LICA-FR 2 240111583 240111583 single base substitution C T synonymous_variant R95R 285G>A LICA-FR 2 240118872 240118872 single base substitution T A intron_variant LICA-FR 2 240121248 240121248 single base substitution G T intron_variant LICA-FR 2 240137169 240137169 single base substitution G A intron_variant LICA-FR 2 240151023 240151023 single base substitution C T intron_variant LICA-FR 2 240158542 240158542 single base substitution A G intron_variant LICA-FR 2 240158542 240158542 single base substitution A G upstream_gene_variant LICA-FR 2 240187484 240187484 single base substitution C A intron_variant LICA-FR 2 240211585 240211585 single base substitution C T intron_variant LICA-FR 2 240278003 240278003 single base substitution T C intron_variant LICA-FR 2 240282388 240282388 single base substitution C T intron_variant LIHC-US 2 240056082 240056082 single base substitution G A 5_prime_UTR_variant LIHC-US 2 240056082 240056082 single base substitution G A exon_variant LIHC-US 2 240056082 240056082 single base substitution G A missense_variant L128F 382C>T LIHC-US 2 240056082 240056082 single base substitution G A missense_variant L354F 1060C>T LIHC-US 2 240056082 240056082 single base substitution G A missense_variant L385F 1153C>T LINC-JP 2 239973919 239973919 single base substitution G T 3_prime_UTR_variant LINC-JP 2 239973919 239973919 single base substitution G T downstream_gene_variant LINC-JP 2 239977148 239977148 single base substitution C G intron_variant LINC-JP 2 239988559 239988559 single base substitution G T splice_region_variant LINC-JP 2 239988559 239988559 single base substitution G T synonymous_variant P39P 117C>A LINC-JP 2 239988600 239988600 single base substitution C A intron_variant LINC-JP 2 239988600 239988600 single base substitution C A missense_variant A26S 76G>T LINC-JP 2 239988717 239988717 single base substitution G C intron_variant LINC-JP 2 239988717 239988717 single base substitution G C upstream_gene_variant LINC-JP 2 239989100 239989100 single base substitution C A intron_variant LINC-JP 2 239989100 239989100 single base substitution C A upstream_gene_variant LINC-JP 2 239990434 239990434 single base substitution T A intron_variant LINC-JP 2 239990434 239990434 single base substitution T A upstream_gene_variant LINC-JP 2 239990593 239990593 single base substitution G A intron_variant LINC-JP 2 239990593 239990593 single base substitution G A upstream_gene_variant LINC-JP 2 240006579 240006579 deletion of <=200bp C - downstream_gene_variant LINC-JP 2 240006579 240006579 deletion of <=200bp C - intron_variant LINC-JP 2 240006579 240006579 deletion of <=200bp C - upstream_gene_variant LINC-JP 2 240007105 240007106 deletion of <=200bp GG - downstream_gene_variant LINC-JP 2 240007105 240007106 deletion of <=200bp GG - intron_variant LINC-JP 2 240007105 240007106 deletion of <=200bp GG - upstream_gene_variant LINC-JP 2 240009631 240009632 deletion of <=200bp TG - downstream_gene_variant LINC-JP 2 240009631 240009632 deletion of <=200bp TG - intron_variant LINC-JP 2 240010321 240010321 insertion of <=200bp - GT downstream_gene_variant LINC-JP 2 240010321 240010321 insertion of <=200bp - GT intron_variant LINC-JP 2 240010974 240010974 single base substitution G C downstream_gene_variant LINC-JP 2 240010974 240010974 single base substitution G C intron_variant LINC-JP 2 240011703 240011703 single base substitution A G downstream_gene_variant LINC-JP 2 240011703 240011703 single base substitution A G exon_variant LINC-JP 2 240011703 240011703 single base substitution A G splice_donor_variant LINC-JP 2 240033851 240033851 single base substitution C T intron_variant LINC-JP 2 240033851 240033851 single base substitution C T upstream_gene_variant LINC-JP 2 240033968 240033968 single base substitution C T intron_variant LINC-JP 2 240033968 240033968 single base substitution C T upstream_gene_variant LINC-JP 2 240036774 240036774 single base substitution C A exon_variant LINC-JP 2 240036774 240036774 single base substitution C A missense_variant S168I 503G>T LINC-JP 2 240036774 240036774 single base substitution C A missense_variant S558I 1673G>T LINC-JP 2 240036774 240036774 single base substitution C A missense_variant S584I 1751G>T LINC-JP 2 240037221 240037221 single base substitution C A intron_variant LINC-JP 2 240037246 240037246 single base substitution G A intron_variant LINC-JP 2 240042078 240042078 single base substitution G C intron_variant LINC-JP 2 240048269 240048269 single base substitution C A downstream_gene_variant LINC-JP 2 240048269 240048269 single base substitution C A exon_variant LINC-JP 2 240048269 240048269 single base substitution C A synonymous_variant S441S 1323G>T LINC-JP 2 240048269 240048269 single base substitution C A synonymous_variant S467S 1401G>T LINC-JP 2 240048269 240048269 single base substitution C A synonymous_variant S51S 153G>T LINC-JP 2 240056091 240056091 single base substitution G T 5_prime_UTR_variant LINC-JP 2 240056091 240056091 single base substitution G T exon_variant LINC-JP 2 240056091 240056091 single base substitution G T missense_variant Q125K 373C>A LINC-JP 2 240056091 240056091 single base substitution G T missense_variant Q351K 1051C>A LINC-JP 2 240056091 240056091 single base substitution G T missense_variant Q382K 1144C>A LINC-JP 2 240061416 240061416 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 2 240061416 240061416 single base substitution G A exon_variant LINC-JP 2 240061416 240061416 single base substitution G A synonymous_variant N283N 849C>T LINC-JP 2 240061416 240061416 single base substitution G A synonymous_variant N314N 942C>T LINC-JP 2 240061416 240061416 single base substitution G A synonymous_variant N57N 171C>T LINC-JP 2 240063455 240063455 single base substitution T A intron_variant LINC-JP 2 240063455 240063455 single base substitution T A upstream_gene_variant LINC-JP 2 240064236 240064236 single base substitution G T intron_variant LINC-JP 2 240064236 240064236 single base substitution G T upstream_gene_variant LINC-JP 2 240078326 240078326 single base substitution C T intron_variant LINC-JP 2 240078326 240078326 single base substitution C T upstream_gene_variant LINC-JP 2 240078365 240078365 single base substitution A T exon_variant LINC-JP 2 240078365 240078365 single base substitution A T missense_variant F208Y 623T>A LINC-JP 2 240078365 240078365 single base substitution A T missense_variant F239Y 716T>A LINC-JP 2 240078365 240078365 single base substitution A T upstream_gene_variant LINC-JP 2 240078444 240078444 single base substitution G A exon_variant LINC-JP 2 240078444 240078444 single base substitution G A stop_gained Q182* 544C>T LINC-JP 2 240078444 240078444 single base substitution G A stop_gained Q213* 637C>T LINC-JP 2 240078444 240078444 single base substitution G A upstream_gene_variant LINC-JP 2 240085353 240085353 single base substitution G A downstream_gene_variant LINC-JP 2 240085353 240085353 single base substitution G A intron_variant LINC-JP 2 240089753 240089753 single base substitution C G intron_variant LINC-JP 2 240111803 240111803 single base substitution C A intron_variant LINC-JP 2 240116891 240116891 single base substitution C A intron_variant LINC-JP 2 240116891 240116891 single base substitution C A upstream_gene_variant LINC-JP 2 240123041 240123041 single base substitution A C intron_variant LINC-JP 2 240125439 240125439 single base substitution T G intron_variant LINC-JP 2 240131379 240131379 single base substitution T C intron_variant LINC-JP 2 240133443 240133443 single base substitution A G intron_variant LINC-JP 2 240166953 240166953 single base substitution T G intron_variant LINC-JP 2 240168169 240168169 single base substitution G A intron_variant LINC-JP 2 240171282 240171282 insertion of <=200bp - A intron_variant LINC-JP 2 240174396 240174396 single base substitution C T intron_variant LINC-JP 2 240176600 240176600 single base substitution T C intron_variant LINC-JP 2 240182701 240182701 single base substitution C A intron_variant LINC-JP 2 240184981 240184981 single base substitution C T intron_variant LINC-JP 2 240197722 240197722 single base substitution G A intron_variant LINC-JP 2 240211781 240211781 single base substitution A C intron_variant LINC-JP 2 240233396 240233396 single base substitution C T intron_variant LINC-JP 2 240233396 240233396 single base substitution C T upstream_gene_variant LINC-JP 2 240234731 240234731 single base substitution T G intron_variant LINC-JP 2 240234731 240234731 single base substitution T G upstream_gene_variant LINC-JP 2 240247218 240247218 single base substitution C T intron_variant LINC-JP 2 240260568 240260568 single base substitution C G intron_variant LINC-JP 2 240268273 240268273 single base substitution G C intron_variant LINC-JP 2 240274698 240274698 single base substitution G A intron_variant LINC-JP 2 240289279 240289279 single base substitution T C intron_variant LINC-JP 2 240317812 240317812 single base substitution C G intron_variant LIRI-JP 2 239967964 239967964 single base substitution C G downstream_gene_variant LIRI-JP 2 239971881 239971881 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 239971881 239971881 single base substitution G A downstream_gene_variant LIRI-JP 2 239975173 239975173 single base substitution C G downstream_gene_variant LIRI-JP 2 239975173 239975173 single base substitution C G synonymous_variant V1066V 3198G>C LIRI-JP 2 239975173 239975173 single base substitution C G synonymous_variant V156V 468G>C LIRI-JP 2 239975173 239975173 single base substitution C G synonymous_variant V650V 1950G>C LIRI-JP 2 239977522 239977522 single base substitution G T intron_variant LIRI-JP 2 239979208 239979208 single base substitution C T intron_variant LIRI-JP 2 239979686 239979686 single base substitution T C intron_variant LIRI-JP 2 239983197 239983197 single base substitution A T intron_variant LIRI-JP 2 239986041 239986041 single base substitution G A intron_variant LIRI-JP 2 239987537 239987537 single base substitution C A intron_variant LIRI-JP 2 239987711 239987711 single base substitution G C intron_variant LIRI-JP 2 239989596 239989596 single base substitution C A intron_variant LIRI-JP 2 239989596 239989596 single base substitution C A upstream_gene_variant LIRI-JP 2 239992896 239992896 single base substitution C A intron_variant LIRI-JP 2 239992896 239992896 single base substitution C A upstream_gene_variant LIRI-JP 2 239993077 239993077 single base substitution C A intron_variant LIRI-JP 2 239993077 239993077 single base substitution C A upstream_gene_variant LIRI-JP 2 239993462 239993462 single base substitution G A intron_variant LIRI-JP 2 239993462 239993462 single base substitution G A upstream_gene_variant LIRI-JP 2 239994601 239994601 single base substitution C T intron_variant LIRI-JP 2 239996255 239996255 single base substitution T G intron_variant LIRI-JP 2 239998600 239998600 single base substitution T C downstream_gene_variant LIRI-JP 2 239998600 239998600 single base substitution T C intron_variant LIRI-JP 2 239999961 239999961 single base substitution A C downstream_gene_variant LIRI-JP 2 239999961 239999961 single base substitution A C intron_variant LIRI-JP 2 240005312 240005312 single base substitution T C intron_variant LIRI-JP 2 240005312 240005312 single base substitution T C upstream_gene_variant LIRI-JP 2 240011643 240011643 single base substitution C T downstream_gene_variant LIRI-JP 2 240011643 240011643 single base substitution C T exon_variant LIRI-JP 2 240011643 240011643 single base substitution C T intron_variant LIRI-JP 2 240012381 240012381 single base substitution C T downstream_gene_variant LIRI-JP 2 240012381 240012381 single base substitution C T intron_variant LIRI-JP 2 240012394 240012394 single base substitution G A downstream_gene_variant LIRI-JP 2 240012394 240012394 single base substitution G A intron_variant LIRI-JP 2 240012728 240012728 single base substitution C G downstream_gene_variant LIRI-JP 2 240012728 240012728 single base substitution C G intron_variant LIRI-JP 2 240013174 240013174 single base substitution C A downstream_gene_variant LIRI-JP 2 240013174 240013174 single base substitution C A exon_variant LIRI-JP 2 240013174 240013174 single base substitution C A intron_variant LIRI-JP 2 240015900 240015900 single base substitution C T downstream_gene_variant LIRI-JP 2 240015900 240015900 single base substitution C T intron_variant LIRI-JP 2 240017949 240017949 single base substitution C G intron_variant LIRI-JP 2 240019781 240019781 single base substitution G A downstream_gene_variant LIRI-JP 2 240019781 240019781 single base substitution G A intron_variant LIRI-JP 2 240020955 240020955 single base substitution T C downstream_gene_variant LIRI-JP 2 240020955 240020955 single base substitution T C intron_variant LIRI-JP 2 240021029 240021030 deletion of <=200bp GT - downstream_gene_variant LIRI-JP 2 240021029 240021030 deletion of <=200bp GT - intron_variant LIRI-JP 2 240021518 240021518 single base substitution A G downstream_gene_variant LIRI-JP 2 240021518 240021518 single base substitution A G intron_variant LIRI-JP 2 240022682 240022682 single base substitution C A downstream_gene_variant LIRI-JP 2 240022682 240022682 single base substitution C A intron_variant LIRI-JP 2 240022742 240022742 single base substitution C A downstream_gene_variant LIRI-JP 2 240022742 240022742 single base substitution C A intron_variant LIRI-JP 2 240028057 240028057 single base substitution G C intron_variant LIRI-JP 2 240028057 240028057 single base substitution G C upstream_gene_variant LIRI-JP 2 240028223 240028223 single base substitution C G intron_variant LIRI-JP 2 240028223 240028223 single base substitution C G upstream_gene_variant LIRI-JP 2 240029012 240029012 single base substitution T C intron_variant LIRI-JP 2 240029012 240029012 single base substitution T C upstream_gene_variant LIRI-JP 2 240030203 240030203 single base substitution C T intron_variant LIRI-JP 2 240030203 240030203 single base substitution C T upstream_gene_variant LIRI-JP 2 240031121 240031121 single base substitution G A intron_variant LIRI-JP 2 240031121 240031121 single base substitution G A upstream_gene_variant LIRI-JP 2 240035556 240035556 single base substitution T C intron_variant LIRI-JP 2 240035693 240035693 single base substitution C T intron_variant LIRI-JP 2 240036922 240036922 single base substitution G T exon_variant LIRI-JP 2 240036922 240036922 single base substitution G T missense_variant L119M 355C>A LIRI-JP 2 240036922 240036922 single base substitution G T missense_variant L509M 1525C>A LIRI-JP 2 240036922 240036922 single base substitution G T missense_variant L535M 1603C>A LIRI-JP 2 240040192 240040192 single base substitution G A intron_variant LIRI-JP 2 240044372 240044372 single base substitution C T downstream_gene_variant LIRI-JP 2 240044372 240044372 single base substitution C T intron_variant LIRI-JP 2 240050544 240050544 single base substitution T A intron_variant LIRI-JP 2 240051434 240051434 single base substitution C T downstream_gene_variant LIRI-JP 2 240051434 240051434 single base substitution C T intron_variant LIRI-JP 2 240054591 240054591 single base substitution C T downstream_gene_variant LIRI-JP 2 240054591 240054591 single base substitution C T intron_variant LIRI-JP 2 240054973 240054973 single base substitution C A downstream_gene_variant LIRI-JP 2 240054973 240054973 single base substitution C A intron_variant LIRI-JP 2 240055456 240055456 single base substitution T C downstream_gene_variant LIRI-JP 2 240055456 240055456 single base substitution T C intron_variant LIRI-JP 2 240055629 240055629 single base substitution T C downstream_gene_variant LIRI-JP 2 240055629 240055629 single base substitution T C intron_variant LIRI-JP 2 240056930 240056930 single base substitution C T intron_variant LIRI-JP 2 240057963 240057963 single base substitution C A intron_variant LIRI-JP 2 240058470 240058470 single base substitution T A intron_variant LIRI-JP 2 240058532 240058532 single base substitution C A intron_variant LIRI-JP 2 240059034 240059034 single base substitution C A intron_variant LIRI-JP 2 240059362 240059362 single base substitution C T intron_variant LIRI-JP 2 240061229 240061229 single base substitution G A intron_variant LIRI-JP 2 240061949 240061949 single base substitution T C intron_variant LIRI-JP 2 240067121 240067121 single base substitution G A intron_variant LIRI-JP 2 240067121 240067121 single base substitution G A upstream_gene_variant LIRI-JP 2 240068232 240068232 single base substitution A G intron_variant LIRI-JP 2 240070737 240070737 single base substitution C A intron_variant LIRI-JP 2 240078202 240078202 single base substitution G T intron_variant LIRI-JP 2 240078202 240078202 single base substitution G T upstream_gene_variant LIRI-JP 2 240078723 240078723 deletion of <=200bp G - intron_variant LIRI-JP 2 240078723 240078723 deletion of <=200bp G - upstream_gene_variant LIRI-JP 2 240080264 240080264 single base substitution C T intron_variant LIRI-JP 2 240080264 240080264 single base substitution C T upstream_gene_variant LIRI-JP 2 240080520 240080520 single base substitution C T intron_variant LIRI-JP 2 240080520 240080520 single base substitution C T upstream_gene_variant LIRI-JP 2 240084629 240084629 single base substitution G T downstream_gene_variant LIRI-JP 2 240084629 240084629 single base substitution G T intron_variant LIRI-JP 2 240085482 240085482 single base substitution C A downstream_gene_variant LIRI-JP 2 240085482 240085482 single base substitution C A intron_variant LIRI-JP 2 240085569 240085569 single base substitution T C exon_variant LIRI-JP 2 240085569 240085569 single base substitution T C missense_variant N150D 448A>G LIRI-JP 2 240085569 240085569 single base substitution T C missense_variant N181D 541A>G LIRI-JP 2 240087473 240087473 single base substitution G A intron_variant LIRI-JP 2 240088489 240088489 single base substitution A G intron_variant LIRI-JP 2 240091525 240091525 single base substitution G T intron_variant LIRI-JP 2 240093954 240093954 single base substitution A G downstream_gene_variant LIRI-JP 2 240093954 240093954 single base substitution A G intron_variant LIRI-JP 2 240094896 240094896 single base substitution G C downstream_gene_variant LIRI-JP 2 240094896 240094896 single base substitution G C intron_variant LIRI-JP 2 240095454 240095454 single base substitution G A downstream_gene_variant LIRI-JP 2 240095454 240095454 single base substitution G A intron_variant LIRI-JP 2 240096001 240096001 single base substitution A C downstream_gene_variant LIRI-JP 2 240096001 240096001 single base substitution A C intron_variant LIRI-JP 2 240097010 240097010 single base substitution C A downstream_gene_variant LIRI-JP 2 240097010 240097010 single base substitution C A intron_variant LIRI-JP 2 240098467 240098467 single base substitution T C intron_variant LIRI-JP 2 240098679 240098679 single base substitution C T intron_variant LIRI-JP 2 240099365 240099365 single base substitution C G intron_variant LIRI-JP 2 240101290 240101290 single base substitution C A intron_variant LIRI-JP 2 240103974 240103974 single base substitution C A downstream_gene_variant LIRI-JP 2 240103974 240103974 single base substitution C A intron_variant LIRI-JP 2 240107980 240107980 single base substitution T A downstream_gene_variant LIRI-JP 2 240107980 240107980 single base substitution T A intron_variant LIRI-JP 2 240109384 240109384 single base substitution C G intron_variant LIRI-JP 2 240113282 240113282 single base substitution G T intron_variant LIRI-JP 2 240113282 240113282 single base substitution G T upstream_gene_variant LIRI-JP 2 240114215 240114215 single base substitution C T intron_variant LIRI-JP 2 240114215 240114215 single base substitution C T upstream_gene_variant LIRI-JP 2 240114632 240114632 single base substitution C T intron_variant LIRI-JP 2 240114632 240114632 single base substitution C T upstream_gene_variant LIRI-JP 2 240115210 240115210 deletion of <=200bp C - intron_variant LIRI-JP 2 240115210 240115210 deletion of <=200bp C - upstream_gene_variant LIRI-JP 2 240115571 240115579 deletion of <=200bp AAAGCATCT - intron_variant LIRI-JP 2 240115571 240115579 deletion of <=200bp AAAGCATCT - upstream_gene_variant LIRI-JP 2 240118106 240118106 single base substitution T C intron_variant LIRI-JP 2 240118491 240118491 single base substitution C A intron_variant LIRI-JP 2 240119345 240119345 single base substitution C A intron_variant LIRI-JP 2 240121047 240121047 single base substitution T C intron_variant LIRI-JP 2 240125443 240125443 single base substitution G T intron_variant LIRI-JP 2 240129391 240129391 single base substitution C T intron_variant LIRI-JP 2 240129468 240129468 single base substitution T G intron_variant LIRI-JP 2 240129572 240129572 single base substitution A T intron_variant LIRI-JP 2 240131466 240131466 single base substitution G A intron_variant LIRI-JP 2 240132133 240132133 single base substitution C T intron_variant LIRI-JP 2 240132293 240132293 single base substitution T A intron_variant LIRI-JP 2 240132574 240132574 single base substitution C T intron_variant LIRI-JP 2 240139020 240139020 single base substitution A G intron_variant LIRI-JP 2 240143903 240143903 insertion of <=200bp - CT intron_variant LIRI-JP 2 240144172 240144172 single base substitution A G intron_variant LIRI-JP 2 240146058 240146058 single base substitution T C intron_variant LIRI-JP 2 240146634 240146634 single base substitution T C intron_variant LIRI-JP 2 240147270 240147270 single base substitution A G intron_variant LIRI-JP 2 240150125 240150125 single base substitution G A intron_variant LIRI-JP 2 240150567 240150567 single base substitution G T intron_variant LIRI-JP 2 240150634 240150634 single base substitution T G intron_variant LIRI-JP 2 240151501 240151501 single base substitution G A intron_variant LIRI-JP 2 240152194 240152194 single base substitution G A intron_variant LIRI-JP 2 240153960 240153960 single base substitution T C downstream_gene_variant LIRI-JP 2 240153960 240153960 single base substitution T C intron_variant LIRI-JP 2 240155141 240155141 single base substitution T C downstream_gene_variant LIRI-JP 2 240155141 240155141 single base substitution T C intron_variant LIRI-JP 2 240158748 240158748 single base substitution A G intron_variant LIRI-JP 2 240158748 240158748 single base substitution A G upstream_gene_variant LIRI-JP 2 240160327 240160327 single base substitution A T intron_variant LIRI-JP 2 240160327 240160327 single base substitution A T upstream_gene_variant LIRI-JP 2 240161025 240161025 single base substitution G A intron_variant LIRI-JP 2 240161025 240161025 single base substitution G A upstream_gene_variant LIRI-JP 2 240164463 240164463 single base substitution T A intron_variant LIRI-JP 2 240164828 240164828 single base substitution G A intron_variant LIRI-JP 2 240165127 240165127 single base substitution C A intron_variant LIRI-JP 2 240170009 240170009 single base substitution T C intron_variant LIRI-JP 2 240170199 240170199 single base substitution T A intron_variant LIRI-JP 2 240171136 240171136 single base substitution A C intron_variant LIRI-JP 2 240171976 240171976 single base substitution G T intron_variant LIRI-JP 2 240173371 240173371 single base substitution A G intron_variant LIRI-JP 2 240174523 240174523 single base substitution T C intron_variant LIRI-JP 2 240177086 240177086 single base substitution T G intron_variant LIRI-JP 2 240177134 240177134 single base substitution T G intron_variant LIRI-JP 2 240179017 240179017 single base substitution T C intron_variant LIRI-JP 2 240183946 240183946 deletion of <=200bp T - intron_variant LIRI-JP 2 240186163 240186163 single base substitution A C intron_variant LIRI-JP 2 240187022 240187022 deletion of <=200bp C - intron_variant LIRI-JP 2 240188806 240188806 single base substitution C A intron_variant LIRI-JP 2 240189452 240189452 single base substitution A T intron_variant LIRI-JP 2 240189970 240189984 deletion of <=200bp GCGGGCCAGGCCCCA - intron_variant LIRI-JP 2 240190571 240190571 single base substitution C A intron_variant LIRI-JP 2 240192113 240192113 single base substitution T G intron_variant LIRI-JP 2 240195204 240195204 single base substitution T C intron_variant LIRI-JP 2 240195326 240195326 single base substitution C A intron_variant LIRI-JP 2 240205697 240205698 deletion of <=200bp GC - intron_variant LIRI-JP 2 240206799 240206799 single base substitution T A intron_variant LIRI-JP 2 240207260 240207260 single base substitution G A intron_variant LIRI-JP 2 240209039 240209039 single base substitution T A intron_variant LIRI-JP 2 240213124 240213124 single base substitution G T intron_variant LIRI-JP 2 240214966 240214966 single base substitution C A intron_variant LIRI-JP 2 240214967 240214967 single base substitution C A intron_variant LIRI-JP 2 240215493 240215493 single base substitution G A intron_variant LIRI-JP 2 240218128 240218128 single base substitution A G intron_variant LIRI-JP 2 240218499 240218499 single base substitution G C intron_variant LIRI-JP 2 240223414 240223414 single base substitution A C intron_variant LIRI-JP 2 240223414 240223414 single base substitution A C upstream_gene_variant LIRI-JP 2 240224589 240224589 single base substitution G C intron_variant LIRI-JP 2 240224589 240224589 single base substitution G C upstream_gene_variant LIRI-JP 2 240227244 240227244 single base substitution G C intron_variant LIRI-JP 2 240227626 240227626 single base substitution G C intron_variant LIRI-JP 2 240228344 240228344 single base substitution C G intron_variant LIRI-JP 2 240234417 240234417 single base substitution C A intron_variant LIRI-JP 2 240234417 240234417 single base substitution C A upstream_gene_variant LIRI-JP 2 240236838 240236838 single base substitution A G intron_variant LIRI-JP 2 240236970 240236970 single base substitution C T intron_variant LIRI-JP 2 240237730 240237730 single base substitution T C intron_variant LIRI-JP 2 240237732 240237732 single base substitution T G intron_variant LIRI-JP 2 240238018 240238018 single base substitution G A intron_variant LIRI-JP 2 240241523 240241523 single base substitution T C intron_variant LIRI-JP 2 240242623 240242623 single base substitution T A intron_variant LIRI-JP 2 240244707 240244707 single base substitution G A intron_variant LIRI-JP 2 240247645 240247645 single base substitution A C intron_variant LIRI-JP 2 240247893 240247893 single base substitution A G intron_variant LIRI-JP 2 240250015 240250015 single base substitution T A intron_variant LIRI-JP 2 240251882 240251882 single base substitution G C intron_variant LIRI-JP 2 240251959 240251959 single base substitution G A intron_variant LIRI-JP 2 240252718 240252718 single base substitution T G intron_variant LIRI-JP 2 240252886 240252886 single base substitution T C intron_variant LIRI-JP 2 240255928 240255928 single base substitution C T intron_variant LIRI-JP 2 240257395 240257395 single base substitution T A intron_variant LIRI-JP 2 240257697 240257697 single base substitution T C intron_variant LIRI-JP 2 240260021 240260021 single base substitution C T intron_variant LIRI-JP 2 240260397 240260397 single base substitution A C intron_variant LIRI-JP 2 240261143 240261143 single base substitution C A intron_variant LIRI-JP 2 240262456 240262456 single base substitution T C intron_variant LIRI-JP 2 240262947 240262947 single base substitution T C intron_variant LIRI-JP 2 240263981 240263981 single base substitution T C intron_variant LIRI-JP 2 240264063 240264063 single base substitution T C intron_variant LIRI-JP 2 240264973 240264973 single base substitution T A intron_variant LIRI-JP 2 240266685 240266685 single base substitution T A intron_variant LIRI-JP 2 240269167 240269167 single base substitution C A intron_variant LIRI-JP 2 240270192 240270192 single base substitution A C intron_variant LIRI-JP 2 240272199 240272199 single base substitution T C intron_variant LIRI-JP 2 240272274 240272274 single base substitution C T intron_variant LIRI-JP 2 240274073 240274073 single base substitution T G intron_variant LIRI-JP 2 240277432 240277432 single base substitution A C intron_variant LIRI-JP 2 240283806 240283806 single base substitution G T intron_variant LIRI-JP 2 240289031 240289031 single base substitution T C intron_variant LIRI-JP 2 240289718 240289718 single base substitution G C intron_variant LIRI-JP 2 240289882 240289882 single base substitution A G intron_variant LIRI-JP 2 240292344 240292344 single base substitution C T intron_variant LIRI-JP 2 240299317 240299317 single base substitution G A intron_variant LIRI-JP 2 240301509 240301509 single base substitution T C intron_variant LIRI-JP 2 240303123 240303123 single base substitution G A intron_variant LIRI-JP 2 240303985 240303985 single base substitution C T intron_variant LIRI-JP 2 240305881 240305881 single base substitution C T intron_variant LIRI-JP 2 240307413 240307413 single base substitution C A intron_variant LIRI-JP 2 240309425 240309425 single base substitution C T intron_variant LIRI-JP 2 240309629 240309629 single base substitution C T intron_variant LIRI-JP 2 240313477 240313477 single base substitution G A intron_variant LIRI-JP 2 240314546 240314546 insertion of <=200bp - C intron_variant LIRI-JP 2 240314833 240314833 single base substitution T C intron_variant LIRI-JP 2 240317958 240317958 single base substitution A G intron_variant LIRI-JP 2 240320892 240320892 single base substitution T G intron_variant LIRI-JP 2 240325693 240325693 single base substitution C T upstream_gene_variant LUSC-KR 2 239965663 239965663 single base substitution C T downstream_gene_variant LUSC-KR 2 239969763 239969763 single base substitution C A downstream_gene_variant LUSC-KR 2 239969974 239969974 single base substitution G C 3_prime_UTR_variant LUSC-KR 2 239969974 239969974 single base substitution G C downstream_gene_variant LUSC-KR 2 239970071 239970071 single base substitution C A 3_prime_UTR_variant LUSC-KR 2 239970071 239970071 single base substitution C A downstream_gene_variant LUSC-KR 2 239970360 239970360 single base substitution A C 3_prime_UTR_variant LUSC-KR 2 239970360 239970360 single base substitution A C downstream_gene_variant LUSC-KR 2 239970450 239970450 single base substitution C G 3_prime_UTR_variant LUSC-KR 2 239970450 239970450 single base substitution C G downstream_gene_variant LUSC-KR 2 239971525 239971525 single base substitution C T 3_prime_UTR_variant LUSC-KR 2 239971525 239971525 single base substitution C T downstream_gene_variant LUSC-KR 2 239974267 239974267 single base substitution C A 3_prime_UTR_variant LUSC-KR 2 239974267 239974267 single base substitution C A downstream_gene_variant LUSC-KR 2 239975026 239975026 single base substitution G A downstream_gene_variant LUSC-KR 2 239975026 239975026 single base substitution G A intron_variant LUSC-KR 2 239975663 239975663 single base substitution G A downstream_gene_variant LUSC-KR 2 239975663 239975663 single base substitution G A intron_variant LUSC-KR 2 239984250 239984250 single base substitution C A intron_variant LUSC-KR 2 239987091 239987091 single base substitution C A intron_variant LUSC-KR 2 239989917 239989917 single base substitution C T intron_variant LUSC-KR 2 239989917 239989917 single base substitution C T upstream_gene_variant LUSC-KR 2 239990543 239990543 single base substitution G T intron_variant LUSC-KR 2 239990543 239990543 single base substitution G T upstream_gene_variant LUSC-KR 2 239990544 239990544 single base substitution A G intron_variant LUSC-KR 2 239990544 239990544 single base substitution A G upstream_gene_variant LUSC-KR 2 239991132 239991132 single base substitution A G intron_variant LUSC-KR 2 239991132 239991132 single base substitution A G upstream_gene_variant LUSC-KR 2 239991181 239991181 single base substitution A G intron_variant LUSC-KR 2 239991181 239991181 single base substitution A G upstream_gene_variant LUSC-KR 2 239991493 239991493 single base substitution G T intron_variant LUSC-KR 2 239991493 239991493 single base substitution G T upstream_gene_variant LUSC-KR 2 239997617 239997617 single base substitution G A downstream_gene_variant LUSC-KR 2 239997617 239997617 single base substitution G A intron_variant LUSC-KR 2 239998333 239998333 single base substitution C A downstream_gene_variant LUSC-KR 2 239998333 239998333 single base substitution C A intron_variant LUSC-KR 2 240001099 240001099 single base substitution C A downstream_gene_variant LUSC-KR 2 240001099 240001099 single base substitution C A intron_variant LUSC-KR 2 240007528 240007528 single base substitution A G downstream_gene_variant LUSC-KR 2 240007528 240007528 single base substitution A G intron_variant LUSC-KR 2 240007528 240007528 single base substitution A G upstream_gene_variant LUSC-KR 2 240007649 240007649 single base substitution G T downstream_gene_variant LUSC-KR 2 240007649 240007649 single base substitution G T intron_variant LUSC-KR 2 240007649 240007649 single base substitution G T upstream_gene_variant LUSC-KR 2 240008069 240008069 single base substitution A C downstream_gene_variant LUSC-KR 2 240008069 240008069 single base substitution A C intron_variant LUSC-KR 2 240013572 240013572 single base substitution C A downstream_gene_variant LUSC-KR 2 240013572 240013572 single base substitution C A exon_variant LUSC-KR 2 240013572 240013572 single base substitution C A intron_variant LUSC-KR 2 240014495 240014495 single base substitution C A downstream_gene_variant LUSC-KR 2 240014495 240014495 single base substitution C A intron_variant LUSC-KR 2 240015896 240015896 single base substitution C T downstream_gene_variant LUSC-KR 2 240015896 240015896 single base substitution C T intron_variant LUSC-KR 2 240018365 240018365 single base substitution C A intron_variant LUSC-KR 2 240018491 240018491 single base substitution C A intron_variant LUSC-KR 2 240021230 240021230 single base substitution T C downstream_gene_variant LUSC-KR 2 240021230 240021230 single base substitution T C intron_variant LUSC-KR 2 240023692 240023692 single base substitution A G downstream_gene_variant LUSC-KR 2 240023692 240023692 single base substitution A G intron_variant LUSC-KR 2 240029125 240029125 single base substitution C A intron_variant LUSC-KR 2 240029125 240029125 single base substitution C A upstream_gene_variant LUSC-KR 2 240029467 240029467 single base substitution C G intron_variant LUSC-KR 2 240029467 240029467 single base substitution C G upstream_gene_variant LUSC-KR 2 240029756 240029756 single base substitution C A exon_variant LUSC-KR 2 240029756 240029756 single base substitution C A missense_variant G280V 839G>T LUSC-KR 2 240029756 240029756 single base substitution C A missense_variant G670V 2009G>T LUSC-KR 2 240029756 240029756 single base substitution C A missense_variant G696V 2087G>T LUSC-KR 2 240029756 240029756 single base substitution C A upstream_gene_variant LUSC-KR 2 240035189 240035189 single base substitution G A intron_variant LUSC-KR 2 240038307 240038307 single base substitution C T intron_variant LUSC-KR 2 240047577 240047577 single base substitution T C downstream_gene_variant LUSC-KR 2 240047577 240047577 single base substitution T C intron_variant LUSC-KR 2 240049057 240049057 single base substitution T A intron_variant LUSC-KR 2 240049776 240049776 single base substitution A G intron_variant LUSC-KR 2 240050203 240050203 single base substitution G A intron_variant LUSC-KR 2 240051161 240051161 single base substitution C A downstream_gene_variant LUSC-KR 2 240051161 240051161 single base substitution C A intron_variant LUSC-KR 2 240053278 240053278 single base substitution C T downstream_gene_variant LUSC-KR 2 240053278 240053278 single base substitution C T intron_variant LUSC-KR 2 240061023 240061023 single base substitution G A intron_variant LUSC-KR 2 240061042 240061042 single base substitution C T intron_variant LUSC-KR 2 240064379 240064379 single base substitution G A intron_variant LUSC-KR 2 240064379 240064379 single base substitution G A upstream_gene_variant LUSC-KR 2 240064421 240064421 single base substitution T C intron_variant LUSC-KR 2 240064421 240064421 single base substitution T C upstream_gene_variant LUSC-KR 2 240066526 240066526 single base substitution T C intron_variant LUSC-KR 2 240066526 240066526 single base substitution T C upstream_gene_variant LUSC-KR 2 240066614 240066614 single base substitution T A intron_variant LUSC-KR 2 240066614 240066614 single base substitution T A upstream_gene_variant LUSC-KR 2 240076956 240076956 single base substitution G C intron_variant LUSC-KR 2 240076956 240076956 single base substitution G C upstream_gene_variant LUSC-KR 2 240079693 240079693 single base substitution C A intron_variant LUSC-KR 2 240079693 240079693 single base substitution C A upstream_gene_variant LUSC-KR 2 240082342 240082342 single base substitution T A downstream_gene_variant LUSC-KR 2 240082342 240082342 single base substitution T A intron_variant LUSC-KR 2 240083103 240083103 single base substitution C A downstream_gene_variant LUSC-KR 2 240083103 240083103 single base substitution C A intron_variant LUSC-KR 2 240085652 240085652 single base substitution G A intron_variant LUSC-KR 2 240085674 240085674 single base substitution C T intron_variant LUSC-KR 2 240086125 240086125 single base substitution C A intron_variant LUSC-KR 2 240086897 240086897 single base substitution C G intron_variant LUSC-KR 2 240090159 240090159 single base substitution G A intron_variant LUSC-KR 2 240092468 240092468 single base substitution G A intron_variant LUSC-KR 2 240093248 240093248 single base substitution T A downstream_gene_variant LUSC-KR 2 240093248 240093248 single base substitution T A intron_variant LUSC-KR 2 240096843 240096843 single base substitution T A downstream_gene_variant LUSC-KR 2 240096843 240096843 single base substitution T A intron_variant LUSC-KR 2 240097916 240097916 single base substitution A C downstream_gene_variant LUSC-KR 2 240097916 240097916 single base substitution A C intron_variant LUSC-KR 2 240100684 240100684 single base substitution A G intron_variant LUSC-KR 2 240100712 240100712 single base substitution T C intron_variant LUSC-KR 2 240100798 240100798 single base substitution A T intron_variant LUSC-KR 2 240106243 240106243 single base substitution T G downstream_gene_variant LUSC-KR 2 240106243 240106243 single base substitution T G intron_variant LUSC-KR 2 240116476 240116476 single base substitution C T intron_variant LUSC-KR 2 240116476 240116476 single base substitution C T upstream_gene_variant LUSC-KR 2 240116612 240116612 single base substitution C G intron_variant LUSC-KR 2 240116612 240116612 single base substitution C G upstream_gene_variant LUSC-KR 2 240116858 240116858 single base substitution A G intron_variant LUSC-KR 2 240116858 240116858 single base substitution A G upstream_gene_variant LUSC-KR 2 240124152 240124152 single base substitution C A intron_variant LUSC-KR 2 240124276 240124276 single base substitution C A intron_variant LUSC-KR 2 240124481 240124481 single base substitution G C intron_variant LUSC-KR 2 240125759 240125759 single base substitution G A intron_variant LUSC-KR 2 240125840 240125840 single base substitution C A intron_variant LUSC-KR 2 240136113 240136113 single base substitution A T intron_variant LUSC-KR 2 240137107 240137107 single base substitution C A intron_variant LUSC-KR 2 240138831 240138831 single base substitution C A intron_variant LUSC-KR 2 240139766 240139766 single base substitution C G intron_variant LUSC-KR 2 240140425 240140425 single base substitution G A intron_variant LUSC-KR 2 240140453 240140453 single base substitution C G intron_variant LUSC-KR 2 240153678 240153678 single base substitution C T downstream_gene_variant LUSC-KR 2 240153678 240153678 single base substitution C T intron_variant LUSC-KR 2 240156177 240156177 single base substitution C A downstream_gene_variant LUSC-KR 2 240156177 240156177 single base substitution C A intron_variant LUSC-KR 2 240156654 240156654 single base substitution C G downstream_gene_variant LUSC-KR 2 240156654 240156654 single base substitution C G intron_variant LUSC-KR 2 240156655 240156655 single base substitution C A downstream_gene_variant LUSC-KR 2 240156655 240156655 single base substitution C A intron_variant LUSC-KR 2 240160221 240160221 single base substitution C T intron_variant LUSC-KR 2 240160221 240160221 single base substitution C T upstream_gene_variant LUSC-KR 2 240162230 240162230 single base substitution A G intron_variant LUSC-KR 2 240162230 240162230 single base substitution A G upstream_gene_variant LUSC-KR 2 240163999 240163999 single base substitution G T intron_variant LUSC-KR 2 240164951 240164951 single base substitution C G intron_variant LUSC-KR 2 240180097 240180097 single base substitution C A intron_variant LUSC-KR 2 240183046 240183046 single base substitution C A intron_variant LUSC-KR 2 240184399 240184399 single base substitution T G intron_variant LUSC-KR 2 240190890 240190890 single base substitution C A intron_variant LUSC-KR 2 240193055 240193055 single base substitution C A intron_variant LUSC-KR 2 240199686 240199686 single base substitution C T intron_variant LUSC-KR 2 240201328 240201328 single base substitution C A intron_variant LUSC-KR 2 240202179 240202179 single base substitution G A intron_variant LUSC-KR 2 240202670 240202670 single base substitution A T intron_variant LUSC-KR 2 240202683 240202683 single base substitution A C intron_variant LUSC-KR 2 240203263 240203263 single base substitution C G intron_variant LUSC-KR 2 240203370 240203370 single base substitution C T intron_variant LUSC-KR 2 240211889 240211889 single base substitution T A intron_variant LUSC-KR 2 240215288 240215288 single base substitution C A intron_variant LUSC-KR 2 240215928 240215928 single base substitution A G intron_variant LUSC-KR 2 240218754 240218754 single base substitution C T intron_variant LUSC-KR 2 240219957 240219957 single base substitution G C exon_variant LUSC-KR 2 240219957 240219957 single base substitution G C intron_variant LUSC-KR 2 240221618 240221618 single base substitution G A intron_variant LUSC-KR 2 240221618 240221618 single base substitution G A upstream_gene_variant LUSC-KR 2 240229071 240229071 single base substitution C A intron_variant LUSC-KR 2 240230364 240230364 single base substitution C A intron_variant LUSC-KR 2 240230734 240230734 single base substitution T C intron_variant LUSC-KR 2 240236046 240236046 single base substitution C T intron_variant LUSC-KR 2 240238991 240238991 single base substitution C A intron_variant LUSC-KR 2 240238992 240238992 single base substitution A T intron_variant LUSC-KR 2 240251087 240251087 single base substitution C A intron_variant LUSC-KR 2 240253677 240253677 single base substitution A G intron_variant LUSC-KR 2 240256274 240256274 single base substitution G A intron_variant LUSC-KR 2 240259872 240259872 single base substitution C G intron_variant LUSC-KR 2 240267883 240267883 single base substitution T C intron_variant LUSC-KR 2 240269695 240269695 single base substitution T C intron_variant LUSC-KR 2 240269703 240269703 single base substitution G C intron_variant LUSC-KR 2 240269831 240269831 single base substitution C A intron_variant LUSC-KR 2 240274570 240274570 single base substitution C T 5_prime_UTR_variant LUSC-KR 2 240274570 240274570 single base substitution C T exon_variant LUSC-KR 2 240280367 240280367 single base substitution C A intron_variant LUSC-KR 2 240293719 240293719 single base substitution T A intron_variant LUSC-KR 2 240293803 240293803 single base substitution C G intron_variant LUSC-KR 2 240297821 240297821 single base substitution C A intron_variant LUSC-KR 2 240297994 240297994 single base substitution A C intron_variant LUSC-KR 2 240299898 240299898 single base substitution C A intron_variant LUSC-KR 2 240299899 240299899 single base substitution C T intron_variant LUSC-KR 2 240305981 240305981 single base substitution T C intron_variant LUSC-KR 2 240306088 240306088 single base substitution C A intron_variant LUSC-KR 2 240310239 240310239 single base substitution G T intron_variant LUSC-KR 2 240311162 240311162 single base substitution C A intron_variant LUSC-KR 2 240311276 240311276 single base substitution C A intron_variant LUSC-KR 2 240316504 240316504 single base substitution C A intron_variant LUSC-KR 2 240317648 240317648 single base substitution T C intron_variant LUSC-KR 2 240318635 240318635 single base substitution T C intron_variant LUSC-KR 2 240325375 240325375 single base substitution G T upstream_gene_variant LUSC-KR 2 240327153 240327153 single base substitution C A upstream_gene_variant LUSC-US 2 239975206 239975206 single base substitution C T downstream_gene_variant LUSC-US 2 239975206 239975206 single base substitution C T synonymous_variant T1055T 3165G>A LUSC-US 2 239975206 239975206 single base substitution C T synonymous_variant T145T 435G>A LUSC-US 2 239975206 239975206 single base substitution C T synonymous_variant T639T 1917G>A LUSC-US 2 239988490 239988490 single base substitution G A exon_variant LUSC-US 2 239988490 239988490 single base substitution G A synonymous_variant L556L 1668C>T LUSC-US 2 239988490 239988490 single base substitution G A synonymous_variant L62L 186C>T LUSC-US 2 239988490 239988490 single base substitution G A synonymous_variant L972L 2916C>T LUSC-US 2 239990202 239990202 single base substitution T C exon_variant LUSC-US 2 239990202 239990202 single base substitution T C missense_variant Y530C 1589A>G LUSC-US 2 239990202 239990202 single base substitution T C missense_variant Y946C 2837A>G LUSC-US 2 239990202 239990202 single base substitution T C upstream_gene_variant LUSC-US 2 239990258 239990258 single base substitution C A exon_variant LUSC-US 2 239990258 239990258 single base substitution C A synonymous_variant V511V 1533G>T LUSC-US 2 239990258 239990258 single base substitution C A synonymous_variant V927V 2781G>T LUSC-US 2 239990258 239990258 single base substitution C A upstream_gene_variant LUSC-US 2 240016748 240016748 single base substitution C T exon_variant LUSC-US 2 240016748 240016748 single base substitution C T synonymous_variant S325S 975G>A LUSC-US 2 240016748 240016748 single base substitution C T synonymous_variant S715S 2145G>A LUSC-US 2 240016748 240016748 single base substitution C T synonymous_variant S741S 2223G>A LUSC-US 2 240029801 240029801 single base substitution C T exon_variant LUSC-US 2 240029801 240029801 single base substitution C T missense_variant R265K 794G>A LUSC-US 2 240029801 240029801 single base substitution C T missense_variant R655K 1964G>A LUSC-US 2 240029801 240029801 single base substitution C T missense_variant R681K 2042G>A LUSC-US 2 240029801 240029801 single base substitution C T upstream_gene_variant LUSC-US 2 240055998 240055998 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 2 240055998 240055998 single base substitution G C downstream_gene_variant LUSC-US 2 240055998 240055998 single base substitution G C exon_variant LUSC-US 2 240055998 240055998 single base substitution G C missense_variant L382V 1144C>G LUSC-US 2 240055998 240055998 single base substitution G C missense_variant L413V 1237C>G LUSC-US 2 240078360 240078360 single base substitution G A exon_variant LUSC-US 2 240078360 240078360 single base substitution G A missense_variant L210F 628C>T LUSC-US 2 240078360 240078360 single base substitution G A missense_variant L241F 721C>T LUSC-US 2 240078360 240078360 single base substitution G A upstream_gene_variant LUSC-US 2 240111549 240111549 single base substitution G T exon_variant LUSC-US 2 240111549 240111549 single base substitution G T missense_variant Q107K 319C>A LUSC-US 2 240111549 240111549 single base substitution G T missense_variant Q76K 226C>A LUSC-US 2 240111549 240111549 single base substitution G T missense_variant Q80K 238C>A MALY-DE 2 239965395 239965395 single base substitution G A downstream_gene_variant MALY-DE 2 239970327 239970327 single base substitution C T 3_prime_UTR_variant MALY-DE 2 239970327 239970327 single base substitution C T downstream_gene_variant MALY-DE 2 239970666 239970666 single base substitution C T 3_prime_UTR_variant MALY-DE 2 239970666 239970666 single base substitution C T downstream_gene_variant MALY-DE 2 239970844 239970844 single base substitution T G 3_prime_UTR_variant MALY-DE 2 239970844 239970844 single base substitution T G downstream_gene_variant MALY-DE 2 239972326 239972326 single base substitution C G 3_prime_UTR_variant MALY-DE 2 239972326 239972326 single base substitution C G downstream_gene_variant MALY-DE 2 239981870 239981870 single base substitution C A intron_variant MALY-DE 2 239988972 239988972 single base substitution T G intron_variant MALY-DE 2 239988972 239988972 single base substitution T G upstream_gene_variant MALY-DE 2 239993612 239993612 single base substitution T A intron_variant MALY-DE 2 239993612 239993612 single base substitution T A upstream_gene_variant MALY-DE 2 240000267 240000267 single base substitution T C downstream_gene_variant MALY-DE 2 240000267 240000267 single base substitution T C intron_variant MALY-DE 2 240003625 240003625 single base substitution C T intron_variant MALY-DE 2 240003625 240003625 single base substitution C T upstream_gene_variant MALY-DE 2 240008082 240008082 single base substitution C T downstream_gene_variant MALY-DE 2 240008082 240008082 single base substitution C T intron_variant MALY-DE 2 240021155 240021155 single base substitution C T downstream_gene_variant MALY-DE 2 240021155 240021155 single base substitution C T intron_variant MALY-DE 2 240024510 240024510 single base substitution G A exon_variant MALY-DE 2 240024510 240024510 single base substitution G A missense_variant P311L 932C>T MALY-DE 2 240024510 240024510 single base substitution G A missense_variant P701L 2102C>T MALY-DE 2 240024510 240024510 single base substitution G A missense_variant P727L 2180C>T MALY-DE 2 240024817 240024817 insertion of <=200bp - A intron_variant MALY-DE 2 240024817 240024817 insertion of <=200bp - A upstream_gene_variant MALY-DE 2 240028722 240028722 single base substitution G T intron_variant MALY-DE 2 240028722 240028722 single base substitution G T upstream_gene_variant MALY-DE 2 240037956 240037956 single base substitution G T intron_variant MALY-DE 2 240046330 240046341 deletion of <=200bp CCGCACATCATT - downstream_gene_variant MALY-DE 2 240046330 240046341 deletion of <=200bp CCGCACATCATT - intron_variant MALY-DE 2 240046333 240046344 deletion of <=200bp CACATCATTCCA - downstream_gene_variant MALY-DE 2 240046333 240046344 deletion of <=200bp CACATCATTCCA - intron_variant MALY-DE 2 240046451 240046451 single base substitution T C downstream_gene_variant MALY-DE 2 240046451 240046451 single base substitution T C intron_variant MALY-DE 2 240046461 240046461 single base substitution C T downstream_gene_variant MALY-DE 2 240046461 240046461 single base substitution C T intron_variant MALY-DE 2 240058239 240058240 deletion of <=200bp CT - intron_variant MALY-DE 2 240061497 240061497 single base substitution G A splice_region_variant MALY-DE 2 240062397 240062397 single base substitution G A intron_variant MALY-DE 2 240077728 240077728 single base substitution C T intron_variant MALY-DE 2 240077728 240077728 single base substitution C T upstream_gene_variant MALY-DE 2 240079232 240079232 single base substitution C T intron_variant MALY-DE 2 240079232 240079232 single base substitution C T upstream_gene_variant MALY-DE 2 240082573 240082573 single base substitution T C downstream_gene_variant MALY-DE 2 240082573 240082573 single base substitution T C intron_variant MALY-DE 2 240087561 240087561 single base substitution C T intron_variant MALY-DE 2 240088400 240088400 single base substitution A C intron_variant MALY-DE 2 240099404 240099404 single base substitution A T intron_variant MALY-DE 2 240104132 240104132 single base substitution C T downstream_gene_variant MALY-DE 2 240104132 240104132 single base substitution C T intron_variant MALY-DE 2 240105687 240105687 single base substitution C G downstream_gene_variant MALY-DE 2 240105687 240105687 single base substitution C G intron_variant MALY-DE 2 240105716 240105717 deletion of <=200bp AC - downstream_gene_variant MALY-DE 2 240105716 240105717 deletion of <=200bp AC - intron_variant MALY-DE 2 240120936 240120936 single base substitution G C intron_variant MALY-DE 2 240121388 240121388 single base substitution G A intron_variant MALY-DE 2 240122505 240122505 single base substitution G A intron_variant MALY-DE 2 240124497 240124497 single base substitution A G intron_variant MALY-DE 2 240128091 240128092 deletion of <=200bp CA - intron_variant MALY-DE 2 240128788 240128788 single base substitution C T intron_variant MALY-DE 2 240151838 240151838 single base substitution C T intron_variant MALY-DE 2 240153047 240153047 single base substitution C A intron_variant MALY-DE 2 240160450 240160450 single base substitution G A intron_variant MALY-DE 2 240160450 240160450 single base substitution G A upstream_gene_variant MALY-DE 2 240160714 240160714 single base substitution G A intron_variant MALY-DE 2 240160714 240160714 single base substitution G A upstream_gene_variant MALY-DE 2 240165620 240165620 single base substitution G A intron_variant MALY-DE 2 240171282 240171282 deletion of <=200bp A - intron_variant MALY-DE 2 240176992 240176993 deletion of <=200bp TG - intron_variant MALY-DE 2 240178952 240178952 single base substitution A G intron_variant MALY-DE 2 240183119 240183119 single base substitution G A intron_variant MALY-DE 2 240183291 240183291 single base substitution C A intron_variant MALY-DE 2 240184668 240184668 single base substitution G A intron_variant MALY-DE 2 240186496 240186496 single base substitution A G intron_variant MALY-DE 2 240189284 240189284 single base substitution A G intron_variant MALY-DE 2 240193716 240193716 single base substitution A C intron_variant MALY-DE 2 240194374 240194374 single base substitution C G intron_variant MALY-DE 2 240198535 240198535 single base substitution C A intron_variant MALY-DE 2 240203087 240203087 insertion of <=200bp - TA intron_variant MALY-DE 2 240207666 240207666 single base substitution C A intron_variant MALY-DE 2 240212277 240212278 deletion of <=200bp CA - intron_variant MALY-DE 2 240219012 240219012 single base substitution G A intron_variant MALY-DE 2 240222279 240222279 deletion of <=200bp A - intron_variant MALY-DE 2 240222279 240222279 deletion of <=200bp A - upstream_gene_variant MALY-DE 2 240224886 240224886 single base substitution C T intron_variant MALY-DE 2 240224886 240224886 single base substitution C T upstream_gene_variant MALY-DE 2 240226578 240226578 single base substitution A C intron_variant MALY-DE 2 240227852 240227852 single base substitution T G intron_variant MALY-DE 2 240227891 240227891 single base substitution G A intron_variant MALY-DE 2 240228843 240228843 single base substitution C T intron_variant MALY-DE 2 240229017 240229017 single base substitution A C intron_variant MALY-DE 2 240240925 240240925 single base substitution A C intron_variant MALY-DE 2 240247442 240247442 single base substitution C T intron_variant MALY-DE 2 240249408 240249408 single base substitution G A intron_variant MALY-DE 2 240251965 240251965 single base substitution G T intron_variant MALY-DE 2 240252736 240252736 single base substitution A C intron_variant MALY-DE 2 240257165 240257165 single base substitution A C intron_variant MALY-DE 2 240257856 240257856 single base substitution C T intron_variant MALY-DE 2 240258393 240258393 single base substitution A G intron_variant MALY-DE 2 240260328 240260328 single base substitution T C intron_variant MALY-DE 2 240260596 240260596 single base substitution G A intron_variant MALY-DE 2 240267729 240267729 single base substitution A G intron_variant MALY-DE 2 240273613 240273613 single base substitution C T intron_variant MALY-DE 2 240283027 240283027 single base substitution T G intron_variant MALY-DE 2 240284094 240284094 single base substitution G A intron_variant MALY-DE 2 240285925 240285925 single base substitution C T intron_variant MALY-DE 2 240288188 240288188 single base substitution G A intron_variant MALY-DE 2 240291958 240291958 single base substitution C T intron_variant MALY-DE 2 240303020 240303020 single base substitution G A intron_variant MALY-DE 2 240306649 240306649 single base substitution G A intron_variant MALY-DE 2 240314927 240314927 single base substitution G A intron_variant MALY-DE 2 240320534 240320534 single base substitution C G intron_variant MALY-DE 2 240327055 240327055 deletion of <=200bp T - upstream_gene_variant MELA-AU 2 239964964 239964964 single base substitution C T downstream_gene_variant MELA-AU 2 239965350 239965350 single base substitution C T downstream_gene_variant MELA-AU 2 239965718 239965718 single base substitution G A downstream_gene_variant MELA-AU 2 239966531 239966532 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 239966556 239966556 single base substitution G T downstream_gene_variant MELA-AU 2 239966996 239966996 single base substitution C T downstream_gene_variant MELA-AU 2 239967600 239967600 single base substitution G A downstream_gene_variant MELA-AU 2 239968807 239968807 single base substitution G T downstream_gene_variant MELA-AU 2 239969620 239969620 single base substitution G A downstream_gene_variant MELA-AU 2 239969705 239969705 single base substitution G T downstream_gene_variant MELA-AU 2 239970571 239970571 single base substitution T A 3_prime_UTR_variant MELA-AU 2 239970571 239970571 single base substitution T A downstream_gene_variant MELA-AU 2 239970689 239970689 single base substitution G A 3_prime_UTR_variant MELA-AU 2 239970689 239970689 single base substitution G A downstream_gene_variant MELA-AU 2 239971034 239971034 single base substitution G A 3_prime_UTR_variant MELA-AU 2 239971034 239971034 single base substitution G A downstream_gene_variant MELA-AU 2 239972042 239972042 single base substitution G A 3_prime_UTR_variant MELA-AU 2 239972042 239972042 single base substitution G A downstream_gene_variant MELA-AU 2 239972829 239972829 single base substitution G A 3_prime_UTR_variant MELA-AU 2 239972829 239972829 single base substitution G A downstream_gene_variant MELA-AU 2 239973581 239973581 single base substitution A G 3_prime_UTR_variant MELA-AU 2 239973581 239973581 single base substitution A G downstream_gene_variant MELA-AU 2 239973605 239973605 single base substitution G A 3_prime_UTR_variant MELA-AU 2 239973605 239973605 single base substitution G A downstream_gene_variant MELA-AU 2 239973628 239973628 single base substitution G A 3_prime_UTR_variant MELA-AU 2 239973628 239973628 single base substitution G A downstream_gene_variant MELA-AU 2 239974134 239974134 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239974134 239974134 single base substitution C T downstream_gene_variant MELA-AU 2 239974619 239974619 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239974619 239974619 single base substitution C T downstream_gene_variant MELA-AU 2 239975441 239975441 single base substitution G A downstream_gene_variant MELA-AU 2 239975441 239975441 single base substitution G A intron_variant MELA-AU 2 239975609 239975609 single base substitution G A downstream_gene_variant MELA-AU 2 239975609 239975609 single base substitution G A intron_variant MELA-AU 2 239976246 239976246 single base substitution G A downstream_gene_variant MELA-AU 2 239976246 239976246 single base substitution G A intron_variant MELA-AU 2 239976859 239976859 single base substitution G A downstream_gene_variant MELA-AU 2 239976859 239976859 single base substitution G A intron_variant MELA-AU 2 239977708 239977709 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 239978123 239978123 single base substitution G A intron_variant MELA-AU 2 239978283 239978283 single base substitution G A intron_variant MELA-AU 2 239978471 239978471 single base substitution G A intron_variant MELA-AU 2 239978517 239978517 single base substitution C T intron_variant MELA-AU 2 239978562 239978562 single base substitution G A intron_variant MELA-AU 2 239978891 239978891 single base substitution G A intron_variant MELA-AU 2 239979682 239979682 single base substitution G A intron_variant MELA-AU 2 239979723 239979723 single base substitution C A intron_variant MELA-AU 2 239980366 239980367 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 239980578 239980578 single base substitution G A intron_variant MELA-AU 2 239981104 239981104 single base substitution G A intron_variant MELA-AU 2 239981107 239981107 single base substitution C T intron_variant MELA-AU 2 239981224 239981224 single base substitution C T intron_variant MELA-AU 2 239981601 239981601 single base substitution G A intron_variant MELA-AU 2 239982135 239982135 single base substitution G A intron_variant MELA-AU 2 239982223 239982223 single base substitution G A intron_variant MELA-AU 2 239982261 239982261 single base substitution T C intron_variant MELA-AU 2 239982416 239982417 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 239982480 239982480 single base substitution C T intron_variant MELA-AU 2 239982553 239982553 single base substitution G A intron_variant MELA-AU 2 239982562 239982563 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 239982630 239982630 single base substitution G A intron_variant MELA-AU 2 239983925 239983925 single base substitution G A intron_variant MELA-AU 2 239983946 239983946 single base substitution C T intron_variant MELA-AU 2 239984308 239984308 single base substitution G A intron_variant MELA-AU 2 239985024 239985024 single base substitution G A intron_variant MELA-AU 2 239985468 239985468 single base substitution C T intron_variant MELA-AU 2 239986226 239986227 multiple base substitution (>=2bp and <=200bp) GC AT intron_variant MELA-AU 2 239986819 239986820 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 239986944 239986944 single base substitution G A intron_variant MELA-AU 2 239988003 239988003 single base substitution C T intron_variant MELA-AU 2 239988084 239988084 single base substitution A G intron_variant MELA-AU 2 239988500 239988500 single base substitution A C exon_variant MELA-AU 2 239988500 239988500 single base substitution A C missense_variant V553G 1658T>G MELA-AU 2 239988500 239988500 single base substitution A C missense_variant V59G 176T>G MELA-AU 2 239988500 239988500 single base substitution A C missense_variant V969G 2906T>G MELA-AU 2 239988797 239988797 single base substitution G A intron_variant MELA-AU 2 239988797 239988797 single base substitution G A upstream_gene_variant MELA-AU 2 239989931 239989931 single base substitution A T intron_variant MELA-AU 2 239989931 239989931 single base substitution A T upstream_gene_variant MELA-AU 2 239990093 239990093 single base substitution C A intron_variant MELA-AU 2 239990093 239990093 single base substitution C A upstream_gene_variant MELA-AU 2 239990109 239990109 single base substitution G A intron_variant MELA-AU 2 239990109 239990109 single base substitution G A upstream_gene_variant MELA-AU 2 239990452 239990452 single base substitution A G intron_variant MELA-AU 2 239990452 239990452 single base substitution A G upstream_gene_variant MELA-AU 2 239990543 239990544 multiple base substitution (>=2bp and <=200bp) GA TG intron_variant MELA-AU 2 239990543 239990544 multiple base substitution (>=2bp and <=200bp) GA TG upstream_gene_variant MELA-AU 2 239991493 239991493 single base substitution G T intron_variant MELA-AU 2 239991493 239991493 single base substitution G T upstream_gene_variant MELA-AU 2 239991545 239991545 single base substitution G A intron_variant MELA-AU 2 239991545 239991545 single base substitution G A upstream_gene_variant MELA-AU 2 239991591 239991591 single base substitution A G intron_variant MELA-AU 2 239991591 239991591 single base substitution A G upstream_gene_variant MELA-AU 2 239991622 239991622 single base substitution G A intron_variant MELA-AU 2 239991622 239991622 single base substitution G A upstream_gene_variant MELA-AU 2 239991882 239991883 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 2 239991882 239991883 multiple base substitution (>=2bp and <=200bp) CC GT upstream_gene_variant MELA-AU 2 239991981 239991981 single base substitution G A intron_variant MELA-AU 2 239991981 239991981 single base substitution G A upstream_gene_variant MELA-AU 2 239992145 239992145 single base substitution G A intron_variant MELA-AU 2 239992145 239992145 single base substitution G A upstream_gene_variant MELA-AU 2 239992420 239992420 single base substitution G A intron_variant MELA-AU 2 239992420 239992420 single base substitution G A upstream_gene_variant MELA-AU 2 239992467 239992467 single base substitution C T intron_variant MELA-AU 2 239992467 239992467 single base substitution C T upstream_gene_variant MELA-AU 2 239992551 239992551 single base substitution C T intron_variant MELA-AU 2 239992551 239992551 single base substitution C T upstream_gene_variant MELA-AU 2 239992826 239992826 single base substitution G A intron_variant MELA-AU 2 239992826 239992826 single base substitution G A upstream_gene_variant MELA-AU 2 239993339 239993339 single base substitution G A intron_variant MELA-AU 2 239993339 239993339 single base substitution G A upstream_gene_variant MELA-AU 2 239993642 239993642 single base substitution C T intron_variant MELA-AU 2 239993642 239993642 single base substitution C T upstream_gene_variant MELA-AU 2 239993671 239993671 single base substitution G A intron_variant MELA-AU 2 239993671 239993671 single base substitution G A upstream_gene_variant MELA-AU 2 239994060 239994060 single base substitution G A intron_variant MELA-AU 2 239994152 239994152 single base substitution C T intron_variant MELA-AU 2 239994880 239994880 single base substitution G A intron_variant MELA-AU 2 239995091 239995091 single base substitution G A intron_variant MELA-AU 2 239995199 239995199 single base substitution C T intron_variant MELA-AU 2 239996278 239996278 single base substitution G A intron_variant MELA-AU 2 239996318 239996318 single base substitution C T intron_variant MELA-AU 2 239996335 239996335 single base substitution T C intron_variant MELA-AU 2 239996684 239996685 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 239996869 239996869 single base substitution G A intron_variant MELA-AU 2 239997338 239997338 single base substitution G A intron_variant MELA-AU 2 239997558 239997558 single base substitution G A intron_variant MELA-AU 2 239997871 239997871 single base substitution G A downstream_gene_variant MELA-AU 2 239997871 239997871 single base substitution G A intron_variant MELA-AU 2 239998330 239998330 single base substitution G A downstream_gene_variant MELA-AU 2 239998330 239998330 single base substitution G A intron_variant MELA-AU 2 239998471 239998472 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 239998471 239998472 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 240000081 240000081 single base substitution G A downstream_gene_variant MELA-AU 2 240000081 240000081 single base substitution G A intron_variant MELA-AU 2 240000403 240000403 single base substitution G A downstream_gene_variant MELA-AU 2 240000403 240000403 single base substitution G A intron_variant MELA-AU 2 240000491 240000491 single base substitution C T downstream_gene_variant MELA-AU 2 240000491 240000491 single base substitution C T intron_variant MELA-AU 2 240001177 240001177 single base substitution G C downstream_gene_variant MELA-AU 2 240001177 240001177 single base substitution G C intron_variant MELA-AU 2 240001230 240001230 single base substitution G A downstream_gene_variant MELA-AU 2 240001230 240001230 single base substitution G A intron_variant MELA-AU 2 240001659 240001659 single base substitution C A downstream_gene_variant MELA-AU 2 240001659 240001659 single base substitution C A intron_variant MELA-AU 2 240002947 240002947 single base substitution G A intron_variant MELA-AU 2 240002947 240002947 single base substitution G A upstream_gene_variant MELA-AU 2 240003333 240003333 single base substitution G A intron_variant MELA-AU 2 240003333 240003333 single base substitution G A upstream_gene_variant MELA-AU 2 240003436 240003436 single base substitution G A intron_variant MELA-AU 2 240003436 240003436 single base substitution G A upstream_gene_variant MELA-AU 2 240004878 240004878 single base substitution G A intron_variant MELA-AU 2 240004878 240004878 single base substitution G A upstream_gene_variant MELA-AU 2 240005700 240005701 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240005700 240005701 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 240009326 240009326 single base substitution G A downstream_gene_variant MELA-AU 2 240009326 240009326 single base substitution G A intron_variant MELA-AU 2 240009451 240009451 single base substitution G A downstream_gene_variant MELA-AU 2 240009451 240009451 single base substitution G A intron_variant MELA-AU 2 240009663 240009663 single base substitution C A downstream_gene_variant MELA-AU 2 240009663 240009663 single base substitution C A intron_variant MELA-AU 2 240010229 240010229 single base substitution G A downstream_gene_variant MELA-AU 2 240010229 240010229 single base substitution G A intron_variant MELA-AU 2 240010364 240010364 single base substitution G A downstream_gene_variant MELA-AU 2 240010364 240010364 single base substitution G A intron_variant MELA-AU 2 240010366 240010366 single base substitution A G downstream_gene_variant MELA-AU 2 240010366 240010366 single base substitution A G intron_variant MELA-AU 2 240010938 240010939 deletion of <=200bp CC - downstream_gene_variant MELA-AU 2 240010938 240010939 deletion of <=200bp CC - intron_variant MELA-AU 2 240011251 240011251 single base substitution G A downstream_gene_variant MELA-AU 2 240011251 240011251 single base substitution G A intron_variant MELA-AU 2 240011331 240011331 single base substitution T A downstream_gene_variant MELA-AU 2 240011331 240011331 single base substitution T A intron_variant MELA-AU 2 240011752 240011752 single base substitution C T downstream_gene_variant MELA-AU 2 240011752 240011752 single base substitution C T exon_variant MELA-AU 2 240011752 240011752 single base substitution C T missense_variant G360S 1078G>A MELA-AU 2 240011752 240011752 single base substitution C T missense_variant G776S 2326G>A MELA-AU 2 240011834 240011834 single base substitution G A downstream_gene_variant MELA-AU 2 240011834 240011834 single base substitution G A intron_variant MELA-AU 2 240012362 240012362 single base substitution G A downstream_gene_variant MELA-AU 2 240012362 240012362 single base substitution G A intron_variant MELA-AU 2 240012395 240012395 single base substitution G A downstream_gene_variant MELA-AU 2 240012395 240012395 single base substitution G A intron_variant MELA-AU 2 240012451 240012451 single base substitution G A downstream_gene_variant MELA-AU 2 240012451 240012451 single base substitution G A intron_variant MELA-AU 2 240012576 240012576 single base substitution G A downstream_gene_variant MELA-AU 2 240012576 240012576 single base substitution G A intron_variant MELA-AU 2 240012665 240012665 single base substitution G A downstream_gene_variant MELA-AU 2 240012665 240012665 single base substitution G A intron_variant MELA-AU 2 240013066 240013066 single base substitution G A downstream_gene_variant MELA-AU 2 240013066 240013066 single base substitution G A exon_variant MELA-AU 2 240013066 240013066 single base substitution G A intron_variant MELA-AU 2 240013145 240013145 single base substitution G A downstream_gene_variant MELA-AU 2 240013145 240013145 single base substitution G A exon_variant MELA-AU 2 240013145 240013145 single base substitution G A intron_variant MELA-AU 2 240013218 240013219 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 2 240013218 240013219 multiple base substitution (>=2bp and <=200bp) CC TA exon_variant MELA-AU 2 240013218 240013219 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 2 240013261 240013261 single base substitution C A downstream_gene_variant MELA-AU 2 240013261 240013261 single base substitution C A exon_variant MELA-AU 2 240013261 240013261 single base substitution C A intron_variant MELA-AU 2 240013296 240013296 single base substitution G C downstream_gene_variant MELA-AU 2 240013296 240013296 single base substitution G C exon_variant MELA-AU 2 240013296 240013296 single base substitution G C intron_variant MELA-AU 2 240013612 240013612 single base substitution A T downstream_gene_variant MELA-AU 2 240013612 240013612 single base substitution A T intron_variant MELA-AU 2 240013716 240013716 single base substitution G C downstream_gene_variant MELA-AU 2 240013716 240013716 single base substitution G C intron_variant MELA-AU 2 240013851 240013851 single base substitution C T downstream_gene_variant MELA-AU 2 240013851 240013851 single base substitution C T intron_variant MELA-AU 2 240014040 240014040 single base substitution G A downstream_gene_variant MELA-AU 2 240014040 240014040 single base substitution G A intron_variant MELA-AU 2 240014642 240014643 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 240014642 240014643 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240014739 240014739 single base substitution G A downstream_gene_variant MELA-AU 2 240014739 240014739 single base substitution G A intron_variant MELA-AU 2 240015854 240015854 single base substitution G A downstream_gene_variant MELA-AU 2 240015854 240015854 single base substitution G A intron_variant MELA-AU 2 240016412 240016412 single base substitution G A 3_prime_UTR_variant MELA-AU 2 240016412 240016412 single base substitution G A downstream_gene_variant MELA-AU 2 240016412 240016412 single base substitution G A exon_variant MELA-AU 2 240016412 240016412 single base substitution G A intron_variant MELA-AU 2 240016761 240016761 single base substitution G A intron_variant MELA-AU 2 240016766 240016767 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240017044 240017044 single base substitution G A intron_variant MELA-AU 2 240017155 240017155 single base substitution C T intron_variant MELA-AU 2 240017226 240017227 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240017642 240017642 single base substitution G A intron_variant MELA-AU 2 240017724 240017724 single base substitution G A intron_variant MELA-AU 2 240018593 240018593 single base substitution C G intron_variant MELA-AU 2 240018720 240018720 single base substitution G A intron_variant MELA-AU 2 240018734 240018734 single base substitution G A intron_variant MELA-AU 2 240018843 240018843 single base substitution G A intron_variant MELA-AU 2 240018959 240018959 single base substitution C T intron_variant MELA-AU 2 240020770 240020771 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 2 240020770 240020771 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 2 240021484 240021484 single base substitution G A downstream_gene_variant MELA-AU 2 240021484 240021484 single base substitution G A intron_variant MELA-AU 2 240022406 240022406 single base substitution C T downstream_gene_variant MELA-AU 2 240022406 240022406 single base substitution C T intron_variant MELA-AU 2 240023353 240023353 single base substitution G A downstream_gene_variant MELA-AU 2 240023353 240023353 single base substitution G A intron_variant MELA-AU 2 240023385 240023385 single base substitution G A downstream_gene_variant MELA-AU 2 240023385 240023385 single base substitution G A intron_variant MELA-AU 2 240023386 240023386 single base substitution G A downstream_gene_variant MELA-AU 2 240023386 240023386 single base substitution G A intron_variant MELA-AU 2 240023671 240023671 single base substitution G A downstream_gene_variant MELA-AU 2 240023671 240023671 single base substitution G A intron_variant MELA-AU 2 240023750 240023750 single base substitution C T downstream_gene_variant MELA-AU 2 240023750 240023750 single base substitution C T intron_variant MELA-AU 2 240023851 240023851 single base substitution G A downstream_gene_variant MELA-AU 2 240023851 240023851 single base substitution G A intron_variant MELA-AU 2 240024327 240024327 single base substitution G A exon_variant MELA-AU 2 240024327 240024327 single base substitution G A intron_variant MELA-AU 2 240024428 240024428 single base substitution G A exon_variant MELA-AU 2 240024428 240024428 single base substitution G A intron_variant MELA-AU 2 240024768 240024768 single base substitution A T intron_variant MELA-AU 2 240024768 240024768 single base substitution A T upstream_gene_variant MELA-AU 2 240024818 240024818 single base substitution A C intron_variant MELA-AU 2 240024818 240024818 single base substitution A C upstream_gene_variant MELA-AU 2 240025556 240025556 single base substitution G A intron_variant MELA-AU 2 240025556 240025556 single base substitution G A upstream_gene_variant MELA-AU 2 240025578 240025578 single base substitution G A intron_variant MELA-AU 2 240025578 240025578 single base substitution G A upstream_gene_variant MELA-AU 2 240025658 240025658 single base substitution G A intron_variant MELA-AU 2 240025658 240025658 single base substitution G A upstream_gene_variant MELA-AU 2 240026607 240026607 single base substitution A G intron_variant MELA-AU 2 240026607 240026607 single base substitution A G upstream_gene_variant MELA-AU 2 240026620 240026620 single base substitution C G intron_variant MELA-AU 2 240026620 240026620 single base substitution C G upstream_gene_variant MELA-AU 2 240026717 240026717 single base substitution C T intron_variant MELA-AU 2 240026717 240026717 single base substitution C T upstream_gene_variant MELA-AU 2 240026888 240026889 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 240026888 240026889 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 240027849 240027849 single base substitution G A intron_variant MELA-AU 2 240027849 240027849 single base substitution G A upstream_gene_variant MELA-AU 2 240027965 240027965 single base substitution T C intron_variant MELA-AU 2 240027965 240027965 single base substitution T C upstream_gene_variant MELA-AU 2 240028051 240028051 single base substitution G A intron_variant MELA-AU 2 240028051 240028051 single base substitution G A upstream_gene_variant MELA-AU 2 240028056 240028056 single base substitution G A intron_variant MELA-AU 2 240028056 240028056 single base substitution G A upstream_gene_variant MELA-AU 2 240028136 240028136 single base substitution C T intron_variant MELA-AU 2 240028136 240028136 single base substitution C T upstream_gene_variant MELA-AU 2 240028219 240028219 single base substitution C T intron_variant MELA-AU 2 240028219 240028219 single base substitution C T upstream_gene_variant MELA-AU 2 240028678 240028678 single base substitution G A intron_variant MELA-AU 2 240028678 240028678 single base substitution G A upstream_gene_variant MELA-AU 2 240028937 240028937 single base substitution G A intron_variant MELA-AU 2 240028937 240028937 single base substitution G A upstream_gene_variant MELA-AU 2 240029022 240029022 single base substitution G A intron_variant MELA-AU 2 240029022 240029022 single base substitution G A upstream_gene_variant MELA-AU 2 240029087 240029087 single base substitution G A intron_variant MELA-AU 2 240029087 240029087 single base substitution G A upstream_gene_variant MELA-AU 2 240029385 240029385 single base substitution G A intron_variant MELA-AU 2 240029385 240029385 single base substitution G A upstream_gene_variant MELA-AU 2 240029409 240029409 single base substitution C T intron_variant MELA-AU 2 240029409 240029409 single base substitution C T upstream_gene_variant MELA-AU 2 240029550 240029550 single base substitution G A intron_variant MELA-AU 2 240029646 240029646 single base substitution A G intron_variant MELA-AU 2 240030003 240030003 single base substitution G A intron_variant MELA-AU 2 240030003 240030003 single base substitution G A upstream_gene_variant MELA-AU 2 240030065 240030065 single base substitution G A intron_variant MELA-AU 2 240030065 240030065 single base substitution G A upstream_gene_variant MELA-AU 2 240030352 240030352 single base substitution G A intron_variant MELA-AU 2 240030352 240030352 single base substitution G A upstream_gene_variant MELA-AU 2 240030744 240030744 single base substitution G A intron_variant MELA-AU 2 240030744 240030744 single base substitution G A upstream_gene_variant MELA-AU 2 240030948 240030948 single base substitution G A intron_variant MELA-AU 2 240030948 240030948 single base substitution G A upstream_gene_variant MELA-AU 2 240031333 240031333 single base substitution G A intron_variant MELA-AU 2 240031333 240031333 single base substitution G A upstream_gene_variant MELA-AU 2 240031575 240031575 single base substitution C T intron_variant MELA-AU 2 240031575 240031575 single base substitution C T upstream_gene_variant MELA-AU 2 240032216 240032216 single base substitution G A intron_variant MELA-AU 2 240032216 240032216 single base substitution G A upstream_gene_variant MELA-AU 2 240032941 240032941 single base substitution G A intron_variant MELA-AU 2 240032941 240032941 single base substitution G A upstream_gene_variant MELA-AU 2 240033060 240033061 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240033060 240033061 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 240033150 240033150 single base substitution G A intron_variant MELA-AU 2 240033150 240033150 single base substitution G A upstream_gene_variant MELA-AU 2 240033213 240033213 single base substitution A C intron_variant MELA-AU 2 240033213 240033213 single base substitution A C upstream_gene_variant MELA-AU 2 240033400 240033400 single base substitution G A exon_variant MELA-AU 2 240033400 240033400 single base substitution G A synonymous_variant L179L 537C>T MELA-AU 2 240033400 240033400 single base substitution G A synonymous_variant L569L 1707C>T MELA-AU 2 240033400 240033400 single base substitution G A synonymous_variant L595L 1785C>T MELA-AU 2 240033400 240033400 single base substitution G A upstream_gene_variant MELA-AU 2 240033407 240033407 single base substitution T A missense_variant Q177L 530A>T MELA-AU 2 240033407 240033407 single base substitution T A missense_variant Q567L 1700A>T MELA-AU 2 240033407 240033407 single base substitution T A missense_variant Q593L 1778A>T MELA-AU 2 240033407 240033407 single base substitution T A splice_region_variant MELA-AU 2 240033407 240033407 single base substitution T A upstream_gene_variant MELA-AU 2 240033554 240033554 single base substitution G A intron_variant MELA-AU 2 240033554 240033554 single base substitution G A upstream_gene_variant MELA-AU 2 240033760 240033760 single base substitution G A intron_variant MELA-AU 2 240033760 240033760 single base substitution G A upstream_gene_variant MELA-AU 2 240033771 240033771 single base substitution G A intron_variant MELA-AU 2 240033771 240033771 single base substitution G A upstream_gene_variant MELA-AU 2 240033882 240033882 single base substitution G A intron_variant MELA-AU 2 240033882 240033882 single base substitution G A upstream_gene_variant MELA-AU 2 240034172 240034172 single base substitution G A intron_variant MELA-AU 2 240034172 240034172 single base substitution G A upstream_gene_variant MELA-AU 2 240034181 240034181 single base substitution G C intron_variant MELA-AU 2 240034181 240034181 single base substitution G C upstream_gene_variant MELA-AU 2 240034271 240034271 single base substitution G A intron_variant MELA-AU 2 240034271 240034271 single base substitution G A upstream_gene_variant MELA-AU 2 240034457 240034457 single base substitution C T intron_variant MELA-AU 2 240034457 240034457 single base substitution C T upstream_gene_variant MELA-AU 2 240034697 240034697 single base substitution G A intron_variant MELA-AU 2 240034697 240034697 single base substitution G A upstream_gene_variant MELA-AU 2 240035809 240035809 single base substitution A G intron_variant MELA-AU 2 240036158 240036158 single base substitution C T intron_variant MELA-AU 2 240037579 240037579 single base substitution G A intron_variant MELA-AU 2 240038076 240038076 single base substitution G A intron_variant MELA-AU 2 240038164 240038164 single base substitution C T intron_variant MELA-AU 2 240039243 240039243 single base substitution G A intron_variant MELA-AU 2 240039560 240039560 single base substitution C T intron_variant MELA-AU 2 240039857 240039857 single base substitution G A intron_variant MELA-AU 2 240040036 240040036 single base substitution G A intron_variant MELA-AU 2 240040052 240040052 single base substitution C G intron_variant MELA-AU 2 240040540 240040540 single base substitution C T intron_variant MELA-AU 2 240040560 240040560 single base substitution G A intron_variant MELA-AU 2 240040745 240040745 single base substitution G A intron_variant MELA-AU 2 240040876 240040876 single base substitution G A intron_variant MELA-AU 2 240041110 240041110 single base substitution G A intron_variant MELA-AU 2 240041111 240041111 single base substitution G A intron_variant MELA-AU 2 240041350 240041350 single base substitution C T intron_variant MELA-AU 2 240041503 240041503 single base substitution G A intron_variant MELA-AU 2 240041593 240041593 single base substitution G A intron_variant MELA-AU 2 240042105 240042105 single base substitution A G intron_variant MELA-AU 2 240042547 240042547 single base substitution G A intron_variant MELA-AU 2 240043043 240043054 deletion of <=200bp TAGTGGGGGTCA - intron_variant MELA-AU 2 240043048 240043048 single base substitution G A intron_variant MELA-AU 2 240043407 240043407 single base substitution G A downstream_gene_variant MELA-AU 2 240043407 240043407 single base substitution G A intron_variant MELA-AU 2 240043536 240043536 insertion of <=200bp - TC downstream_gene_variant MELA-AU 2 240043536 240043536 insertion of <=200bp - TC intron_variant MELA-AU 2 240043736 240043737 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 240043736 240043737 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240044297 240044297 single base substitution G A downstream_gene_variant MELA-AU 2 240044297 240044297 single base substitution G A intron_variant MELA-AU 2 240044716 240044716 single base substitution G A downstream_gene_variant MELA-AU 2 240044716 240044716 single base substitution G A intron_variant MELA-AU 2 240044974 240044974 single base substitution C T downstream_gene_variant MELA-AU 2 240044974 240044974 single base substitution C T intron_variant MELA-AU 2 240045011 240045011 single base substitution G A downstream_gene_variant MELA-AU 2 240045011 240045011 single base substitution G A intron_variant MELA-AU 2 240045016 240045016 single base substitution G A downstream_gene_variant MELA-AU 2 240045016 240045016 single base substitution G A intron_variant MELA-AU 2 240045625 240045625 single base substitution G A downstream_gene_variant MELA-AU 2 240045625 240045625 single base substitution G A intron_variant MELA-AU 2 240045701 240045701 single base substitution G A downstream_gene_variant MELA-AU 2 240045701 240045701 single base substitution G A intron_variant MELA-AU 2 240045933 240045933 single base substitution C T downstream_gene_variant MELA-AU 2 240045933 240045933 single base substitution C T intron_variant MELA-AU 2 240046032 240046032 single base substitution G A downstream_gene_variant MELA-AU 2 240046032 240046032 single base substitution G A intron_variant MELA-AU 2 240047071 240047071 single base substitution G A downstream_gene_variant MELA-AU 2 240047071 240047071 single base substitution G A intron_variant MELA-AU 2 240047863 240047863 single base substitution G C downstream_gene_variant MELA-AU 2 240047863 240047863 single base substitution G C intron_variant MELA-AU 2 240048289 240048289 single base substitution G A downstream_gene_variant MELA-AU 2 240048289 240048289 single base substitution G A exon_variant MELA-AU 2 240048289 240048289 single base substitution G A missense_variant P435S 1303C>T MELA-AU 2 240048289 240048289 single base substitution G A missense_variant P45S 133C>T MELA-AU 2 240048289 240048289 single base substitution G A missense_variant P461S 1381C>T MELA-AU 2 240048529 240048529 single base substitution G A intron_variant MELA-AU 2 240048594 240048594 single base substitution G A intron_variant MELA-AU 2 240049959 240049959 single base substitution C T intron_variant MELA-AU 2 240050046 240050046 single base substitution A G intron_variant MELA-AU 2 240051341 240051342 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 240051341 240051342 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240052136 240052136 single base substitution C T downstream_gene_variant MELA-AU 2 240052136 240052136 single base substitution C T intron_variant MELA-AU 2 240052923 240052923 single base substitution G A downstream_gene_variant MELA-AU 2 240052923 240052923 single base substitution G A intron_variant MELA-AU 2 240053204 240053205 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 240053204 240053205 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240053206 240053206 single base substitution G A downstream_gene_variant MELA-AU 2 240053206 240053206 single base substitution G A intron_variant MELA-AU 2 240053215 240053215 single base substitution G A downstream_gene_variant MELA-AU 2 240053215 240053215 single base substitution G A intron_variant MELA-AU 2 240053275 240053275 single base substitution G A downstream_gene_variant MELA-AU 2 240053275 240053275 single base substitution G A intron_variant MELA-AU 2 240053334 240053334 single base substitution T C downstream_gene_variant MELA-AU 2 240053334 240053334 single base substitution T C intron_variant MELA-AU 2 240053463 240053463 single base substitution G A downstream_gene_variant MELA-AU 2 240053463 240053463 single base substitution G A intron_variant MELA-AU 2 240053787 240053787 single base substitution G A downstream_gene_variant MELA-AU 2 240053787 240053787 single base substitution G A intron_variant MELA-AU 2 240054059 240054059 single base substitution C T downstream_gene_variant MELA-AU 2 240054059 240054059 single base substitution C T intron_variant MELA-AU 2 240055135 240055135 single base substitution C T downstream_gene_variant MELA-AU 2 240055135 240055135 single base substitution C T intron_variant MELA-AU 2 240055218 240055218 single base substitution A C downstream_gene_variant MELA-AU 2 240055218 240055218 single base substitution A C intron_variant MELA-AU 2 240055529 240055529 single base substitution C A downstream_gene_variant MELA-AU 2 240055529 240055529 single base substitution C A intron_variant MELA-AU 2 240055948 240055948 single base substitution G A downstream_gene_variant MELA-AU 2 240055948 240055948 single base substitution G A exon_variant MELA-AU 2 240055948 240055948 single base substitution G A synonymous_variant L13L 39C>T MELA-AU 2 240055948 240055948 single base substitution G A synonymous_variant L398L 1194C>T MELA-AU 2 240055948 240055948 single base substitution G A synonymous_variant L429L 1287C>T MELA-AU 2 240055951 240055951 single base substitution G A downstream_gene_variant MELA-AU 2 240055951 240055951 single base substitution G A exon_variant MELA-AU 2 240055951 240055951 single base substitution G A synonymous_variant P12P 36C>T MELA-AU 2 240055951 240055951 single base substitution G A synonymous_variant P397P 1191C>T MELA-AU 2 240055951 240055951 single base substitution G A synonymous_variant P428P 1284C>T MELA-AU 2 240056071 240056071 single base substitution G A 5_prime_UTR_variant MELA-AU 2 240056071 240056071 single base substitution G A exon_variant MELA-AU 2 240056071 240056071 single base substitution G A synonymous_variant F131F 393C>T MELA-AU 2 240056071 240056071 single base substitution G A synonymous_variant F357F 1071C>T MELA-AU 2 240056071 240056071 single base substitution G A synonymous_variant F388F 1164C>T MELA-AU 2 240056268 240056269 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 2 240056268 240056269 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 2 240056268 240056269 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S319F 956CC>TT MELA-AU 2 240056268 240056269 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S350F 1049CC>TT MELA-AU 2 240056268 240056269 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S93F 278CC>TT MELA-AU 2 240056290 240056290 single base substitution A G 5_prime_UTR_variant MELA-AU 2 240056290 240056290 single base substitution A G exon_variant MELA-AU 2 240056290 240056290 single base substitution A G missense_variant L312P 935T>C MELA-AU 2 240056290 240056290 single base substitution A G missense_variant L343P 1028T>C MELA-AU 2 240056290 240056290 single base substitution A G missense_variant L86P 257T>C MELA-AU 2 240056555 240056555 single base substitution C T intron_variant MELA-AU 2 240056761 240056761 single base substitution G A intron_variant MELA-AU 2 240056809 240056809 single base substitution G A intron_variant MELA-AU 2 240056988 240056988 single base substitution G A intron_variant MELA-AU 2 240057103 240057103 single base substitution C T intron_variant MELA-AU 2 240057474 240057474 single base substitution G A intron_variant MELA-AU 2 240057644 240057644 single base substitution A C intron_variant MELA-AU 2 240057650 240057650 single base substitution G A intron_variant MELA-AU 2 240058916 240058916 single base substitution G A intron_variant MELA-AU 2 240059102 240059102 single base substitution C T intron_variant MELA-AU 2 240059651 240059651 single base substitution G A intron_variant MELA-AU 2 240060166 240060166 single base substitution T A intron_variant MELA-AU 2 240061159 240061159 single base substitution G A intron_variant MELA-AU 2 240061536 240061536 single base substitution G A intron_variant MELA-AU 2 240061671 240061671 single base substitution G A intron_variant MELA-AU 2 240061757 240061757 single base substitution T C intron_variant MELA-AU 2 240062256 240062256 single base substitution G A intron_variant MELA-AU 2 240062413 240062413 single base substitution G A intron_variant MELA-AU 2 240063029 240063029 single base substitution T A intron_variant MELA-AU 2 240063029 240063029 single base substitution T A upstream_gene_variant MELA-AU 2 240063114 240063114 single base substitution C T intron_variant MELA-AU 2 240063114 240063114 single base substitution C T upstream_gene_variant MELA-AU 2 240063810 240063810 single base substitution G A intron_variant MELA-AU 2 240063810 240063810 single base substitution G A upstream_gene_variant MELA-AU 2 240064414 240064414 single base substitution G A intron_variant MELA-AU 2 240064414 240064414 single base substitution G A upstream_gene_variant MELA-AU 2 240064449 240064449 single base substitution G A intron_variant MELA-AU 2 240064449 240064449 single base substitution G A upstream_gene_variant MELA-AU 2 240065012 240065012 single base substitution G A intron_variant MELA-AU 2 240065012 240065012 single base substitution G A upstream_gene_variant MELA-AU 2 240065177 240065177 single base substitution G A intron_variant MELA-AU 2 240065177 240065177 single base substitution G A upstream_gene_variant MELA-AU 2 240065319 240065320 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 2 240065319 240065320 multiple base substitution (>=2bp and <=200bp) GG AC upstream_gene_variant MELA-AU 2 240065724 240065724 single base substitution G C intron_variant MELA-AU 2 240065724 240065724 single base substitution G C upstream_gene_variant MELA-AU 2 240066226 240066226 single base substitution G A intron_variant MELA-AU 2 240066226 240066226 single base substitution G A upstream_gene_variant MELA-AU 2 240066540 240066540 single base substitution G A intron_variant MELA-AU 2 240066540 240066540 single base substitution G A upstream_gene_variant MELA-AU 2 240067399 240067399 single base substitution G A intron_variant MELA-AU 2 240067399 240067399 single base substitution G A upstream_gene_variant MELA-AU 2 240068063 240068063 single base substitution C A intron_variant MELA-AU 2 240068597 240068597 single base substitution C T intron_variant MELA-AU 2 240068702 240068702 single base substitution G A intron_variant MELA-AU 2 240068770 240068770 single base substitution C T intron_variant MELA-AU 2 240068796 240068796 single base substitution G A intron_variant MELA-AU 2 240069418 240069418 single base substitution C T intron_variant MELA-AU 2 240069449 240069450 multiple base substitution (>=2bp and <=200bp) GG TT intron_variant MELA-AU 2 240070286 240070286 single base substitution G A intron_variant MELA-AU 2 240070353 240070353 single base substitution G T intron_variant MELA-AU 2 240070632 240070632 single base substitution C T intron_variant MELA-AU 2 240070753 240070753 single base substitution A T intron_variant MELA-AU 2 240071029 240071029 single base substitution G A intron_variant MELA-AU 2 240071039 240071039 single base substitution C T intron_variant MELA-AU 2 240071219 240071219 single base substitution G A intron_variant MELA-AU 2 240071592 240071592 single base substitution G A intron_variant MELA-AU 2 240073096 240073096 single base substitution G A intron_variant MELA-AU 2 240073116 240073116 single base substitution G A intron_variant MELA-AU 2 240073119 240073119 single base substitution G A intron_variant MELA-AU 2 240073369 240073369 single base substitution A C intron_variant MELA-AU 2 240074688 240074688 single base substitution G A intron_variant MELA-AU 2 240075505 240075505 single base substitution C T intron_variant MELA-AU 2 240076034 240076034 single base substitution G A intron_variant MELA-AU 2 240076693 240076693 single base substitution G A exon_variant MELA-AU 2 240076693 240076693 single base substitution G A intron_variant MELA-AU 2 240077962 240077962 single base substitution G A intron_variant MELA-AU 2 240077962 240077962 single base substitution G A upstream_gene_variant MELA-AU 2 240079230 240079230 single base substitution G A intron_variant MELA-AU 2 240079230 240079230 single base substitution G A upstream_gene_variant MELA-AU 2 240081882 240081882 single base substitution G A downstream_gene_variant MELA-AU 2 240081882 240081882 single base substitution G A intron_variant MELA-AU 2 240081882 240081882 single base substitution G A upstream_gene_variant MELA-AU 2 240082466 240082466 single base substitution G A downstream_gene_variant MELA-AU 2 240082466 240082466 single base substitution G A intron_variant MELA-AU 2 240082484 240082484 single base substitution C T downstream_gene_variant MELA-AU 2 240082484 240082484 single base substitution C T intron_variant MELA-AU 2 240083078 240083079 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 240083078 240083079 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240084014 240084014 single base substitution T A downstream_gene_variant MELA-AU 2 240084014 240084014 single base substitution T A intron_variant MELA-AU 2 240084080 240084080 single base substitution G A downstream_gene_variant MELA-AU 2 240084080 240084080 single base substitution G A intron_variant MELA-AU 2 240084167 240084167 single base substitution G A downstream_gene_variant MELA-AU 2 240084167 240084167 single base substitution G A intron_variant MELA-AU 2 240084520 240084520 single base substitution G A downstream_gene_variant MELA-AU 2 240084520 240084520 single base substitution G A intron_variant MELA-AU 2 240084612 240084612 single base substitution G A downstream_gene_variant MELA-AU 2 240084612 240084612 single base substitution G A intron_variant MELA-AU 2 240085321 240085321 single base substitution G A downstream_gene_variant MELA-AU 2 240085321 240085321 single base substitution G A intron_variant MELA-AU 2 240085570 240085570 single base substitution G C exon_variant MELA-AU 2 240085570 240085570 single base substitution G C synonymous_variant L149L 447C>G MELA-AU 2 240085570 240085570 single base substitution G C synonymous_variant L180L 540C>G MELA-AU 2 240085999 240085999 single base substitution G A intron_variant MELA-AU 2 240086334 240086334 single base substitution T A intron_variant MELA-AU 2 240086846 240086846 single base substitution G T intron_variant MELA-AU 2 240086865 240086865 single base substitution A G intron_variant MELA-AU 2 240087093 240087093 single base substitution G A intron_variant MELA-AU 2 240087259 240087259 single base substitution G A intron_variant MELA-AU 2 240088671 240088671 single base substitution G A intron_variant MELA-AU 2 240088693 240088693 single base substitution G A intron_variant MELA-AU 2 240089021 240089021 single base substitution C T intron_variant MELA-AU 2 240089231 240089231 single base substitution G A intron_variant MELA-AU 2 240089861 240089861 single base substitution G A intron_variant MELA-AU 2 240090184 240090184 single base substitution T C intron_variant MELA-AU 2 240090226 240090226 single base substitution G A intron_variant MELA-AU 2 240090275 240090275 single base substitution G A intron_variant MELA-AU 2 240090562 240090562 single base substitution C T intron_variant MELA-AU 2 240090985 240090985 single base substitution G A intron_variant MELA-AU 2 240091002 240091002 single base substitution C T intron_variant MELA-AU 2 240092077 240092077 single base substitution G A intron_variant MELA-AU 2 240092557 240092557 single base substitution G A intron_variant MELA-AU 2 240092568 240092568 single base substitution G A intron_variant MELA-AU 2 240093110 240093110 single base substitution G A intron_variant MELA-AU 2 240094071 240094071 single base substitution A T downstream_gene_variant MELA-AU 2 240094071 240094071 single base substitution A T intron_variant MELA-AU 2 240094524 240094524 single base substitution C T downstream_gene_variant MELA-AU 2 240094524 240094524 single base substitution C T intron_variant MELA-AU 2 240094561 240094561 single base substitution G A downstream_gene_variant MELA-AU 2 240094561 240094561 single base substitution G A intron_variant MELA-AU 2 240094717 240094717 single base substitution C T downstream_gene_variant MELA-AU 2 240094717 240094717 single base substitution C T intron_variant MELA-AU 2 240095719 240095719 single base substitution G T downstream_gene_variant MELA-AU 2 240095719 240095719 single base substitution G T intron_variant MELA-AU 2 240095821 240095821 single base substitution G A downstream_gene_variant MELA-AU 2 240095821 240095821 single base substitution G A intron_variant MELA-AU 2 240095861 240095861 single base substitution G A downstream_gene_variant MELA-AU 2 240095861 240095861 single base substitution G A intron_variant MELA-AU 2 240096208 240096208 single base substitution G A downstream_gene_variant MELA-AU 2 240096208 240096208 single base substitution G A intron_variant MELA-AU 2 240096679 240096679 single base substitution G A downstream_gene_variant MELA-AU 2 240096679 240096679 single base substitution G A intron_variant MELA-AU 2 240097308 240097308 single base substitution G A downstream_gene_variant MELA-AU 2 240097308 240097308 single base substitution G A intron_variant MELA-AU 2 240097338 240097338 single base substitution G A downstream_gene_variant MELA-AU 2 240097338 240097338 single base substitution G A intron_variant MELA-AU 2 240097410 240097410 single base substitution G A downstream_gene_variant MELA-AU 2 240097410 240097410 single base substitution G A intron_variant MELA-AU 2 240097519 240097519 single base substitution T A downstream_gene_variant MELA-AU 2 240097519 240097519 single base substitution T A intron_variant MELA-AU 2 240097689 240097689 single base substitution G A downstream_gene_variant MELA-AU 2 240097689 240097689 single base substitution G A intron_variant MELA-AU 2 240097782 240097782 single base substitution C T downstream_gene_variant MELA-AU 2 240097782 240097782 single base substitution C T intron_variant MELA-AU 2 240098223 240098224 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 240098223 240098224 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant QE125QK MELA-AU 2 240098223 240098224 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant QE94QK MELA-AU 2 240098223 240098224 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant QE98QK MELA-AU 2 240098377 240098377 single base substitution G A intron_variant MELA-AU 2 240098438 240098439 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240098469 240098469 single base substitution G A intron_variant MELA-AU 2 240098679 240098679 single base substitution C A intron_variant MELA-AU 2 240098715 240098715 single base substitution G A intron_variant MELA-AU 2 240099209 240099209 single base substitution G A intron_variant MELA-AU 2 240099818 240099818 single base substitution G A intron_variant MELA-AU 2 240100334 240100334 single base substitution C T intron_variant MELA-AU 2 240100419 240100419 single base substitution G A intron_variant MELA-AU 2 240100610 240100610 single base substitution G A intron_variant MELA-AU 2 240100640 240100640 single base substitution G A intron_variant MELA-AU 2 240100970 240100970 single base substitution G A intron_variant MELA-AU 2 240101131 240101131 single base substitution G A intron_variant MELA-AU 2 240101213 240101213 single base substitution G A intron_variant MELA-AU 2 240101227 240101227 single base substitution G A intron_variant MELA-AU 2 240101316 240101316 single base substitution A G intron_variant MELA-AU 2 240101369 240101369 single base substitution G A intron_variant MELA-AU 2 240101445 240101445 single base substitution G A intron_variant MELA-AU 2 240101939 240101939 single base substitution C T intron_variant MELA-AU 2 240102079 240102079 single base substitution G A intron_variant MELA-AU 2 240102432 240102432 single base substitution G A intron_variant MELA-AU 2 240102472 240102472 single base substitution C T intron_variant MELA-AU 2 240102672 240102672 single base substitution G A intron_variant MELA-AU 2 240102841 240102841 single base substitution G A intron_variant MELA-AU 2 240102941 240102941 single base substitution G A intron_variant MELA-AU 2 240103324 240103324 single base substitution G A downstream_gene_variant MELA-AU 2 240103324 240103324 single base substitution G A intron_variant MELA-AU 2 240103516 240103516 single base substitution G A downstream_gene_variant MELA-AU 2 240103516 240103516 single base substitution G A intron_variant MELA-AU 2 240103619 240103619 single base substitution G A downstream_gene_variant MELA-AU 2 240103619 240103619 single base substitution G A intron_variant MELA-AU 2 240103677 240103677 single base substitution G A downstream_gene_variant MELA-AU 2 240103677 240103677 single base substitution G A intron_variant MELA-AU 2 240103760 240103760 single base substitution G A downstream_gene_variant MELA-AU 2 240103760 240103760 single base substitution G A intron_variant MELA-AU 2 240103787 240103787 single base substitution G A downstream_gene_variant MELA-AU 2 240103787 240103787 single base substitution G A intron_variant MELA-AU 2 240104040 240104040 single base substitution G A downstream_gene_variant MELA-AU 2 240104040 240104040 single base substitution G A intron_variant MELA-AU 2 240104162 240104162 single base substitution G A downstream_gene_variant MELA-AU 2 240104162 240104162 single base substitution G A intron_variant MELA-AU 2 240104309 240104309 single base substitution G A downstream_gene_variant MELA-AU 2 240104309 240104309 single base substitution G A intron_variant MELA-AU 2 240104623 240104623 single base substitution G A downstream_gene_variant MELA-AU 2 240104623 240104623 single base substitution G A intron_variant MELA-AU 2 240104658 240104658 single base substitution G A downstream_gene_variant MELA-AU 2 240104658 240104658 single base substitution G A intron_variant MELA-AU 2 240104803 240104803 single base substitution G A downstream_gene_variant MELA-AU 2 240104803 240104803 single base substitution G A intron_variant MELA-AU 2 240104854 240104854 single base substitution G A downstream_gene_variant MELA-AU 2 240104854 240104854 single base substitution G A intron_variant MELA-AU 2 240104944 240104944 single base substitution G A downstream_gene_variant MELA-AU 2 240104944 240104944 single base substitution G A intron_variant MELA-AU 2 240104995 240104995 single base substitution G A downstream_gene_variant MELA-AU 2 240104995 240104995 single base substitution G A intron_variant MELA-AU 2 240105043 240105043 single base substitution C T downstream_gene_variant MELA-AU 2 240105043 240105043 single base substitution C T intron_variant MELA-AU 2 240105292 240105292 single base substitution G A downstream_gene_variant MELA-AU 2 240105292 240105292 single base substitution G A intron_variant MELA-AU 2 240105578 240105578 single base substitution G A downstream_gene_variant MELA-AU 2 240105578 240105578 single base substitution G A intron_variant MELA-AU 2 240105918 240105918 single base substitution G A downstream_gene_variant MELA-AU 2 240105918 240105918 single base substitution G A intron_variant MELA-AU 2 240106069 240106069 single base substitution G A downstream_gene_variant MELA-AU 2 240106069 240106069 single base substitution G A intron_variant MELA-AU 2 240106662 240106662 single base substitution G A downstream_gene_variant MELA-AU 2 240106662 240106662 single base substitution G A intron_variant MELA-AU 2 240106784 240106784 single base substitution C G downstream_gene_variant MELA-AU 2 240106784 240106784 single base substitution C G intron_variant MELA-AU 2 240106788 240106788 single base substitution G A downstream_gene_variant MELA-AU 2 240106788 240106788 single base substitution G A intron_variant MELA-AU 2 240106839 240106839 single base substitution G A downstream_gene_variant MELA-AU 2 240106839 240106839 single base substitution G A intron_variant MELA-AU 2 240106879 240106879 single base substitution G A downstream_gene_variant MELA-AU 2 240106879 240106879 single base substitution G A intron_variant MELA-AU 2 240106935 240106935 single base substitution C T downstream_gene_variant MELA-AU 2 240106935 240106935 single base substitution C T intron_variant MELA-AU 2 240106968 240106968 single base substitution G A downstream_gene_variant MELA-AU 2 240106968 240106968 single base substitution G A intron_variant MELA-AU 2 240106999 240106999 single base substitution G A downstream_gene_variant MELA-AU 2 240106999 240106999 single base substitution G A intron_variant MELA-AU 2 240107405 240107405 single base substitution A C downstream_gene_variant MELA-AU 2 240107405 240107405 single base substitution A C intron_variant MELA-AU 2 240107881 240107881 single base substitution G A downstream_gene_variant MELA-AU 2 240107881 240107881 single base substitution G A intron_variant MELA-AU 2 240108429 240108429 single base substitution C T exon_variant MELA-AU 2 240108429 240108429 single base substitution C T intron_variant MELA-AU 2 240108649 240108649 single base substitution G A exon_variant MELA-AU 2 240108649 240108649 single base substitution G A intron_variant MELA-AU 2 240109410 240109410 single base substitution G A intron_variant MELA-AU 2 240109593 240109593 single base substitution G A intron_variant MELA-AU 2 240110790 240110790 single base substitution G A intron_variant MELA-AU 2 240111156 240111156 single base substitution G A intron_variant MELA-AU 2 240111449 240111449 single base substitution C T intron_variant MELA-AU 2 240112314 240112314 single base substitution C T intron_variant MELA-AU 2 240112593 240112593 single base substitution G T intron_variant MELA-AU 2 240112935 240112935 single base substitution C T intron_variant MELA-AU 2 240112935 240112935 single base substitution C T upstream_gene_variant MELA-AU 2 240113266 240113266 single base substitution G A intron_variant MELA-AU 2 240113266 240113266 single base substitution G A upstream_gene_variant MELA-AU 2 240114012 240114012 single base substitution G A intron_variant MELA-AU 2 240114012 240114012 single base substitution G A upstream_gene_variant MELA-AU 2 240115202 240115202 single base substitution G A intron_variant MELA-AU 2 240115202 240115202 single base substitution G A upstream_gene_variant MELA-AU 2 240115204 240115204 single base substitution G C intron_variant MELA-AU 2 240115204 240115204 single base substitution G C upstream_gene_variant MELA-AU 2 240116323 240116323 single base substitution G A intron_variant MELA-AU 2 240116323 240116323 single base substitution G A upstream_gene_variant MELA-AU 2 240117177 240117177 single base substitution G C intron_variant MELA-AU 2 240117177 240117177 single base substitution G C upstream_gene_variant MELA-AU 2 240117365 240117365 single base substitution C T intron_variant MELA-AU 2 240117365 240117365 single base substitution C T upstream_gene_variant MELA-AU 2 240118236 240118236 single base substitution C T intron_variant MELA-AU 2 240119046 240119046 single base substitution C A intron_variant MELA-AU 2 240119384 240119384 single base substitution G A intron_variant MELA-AU 2 240119585 240119585 single base substitution T G intron_variant MELA-AU 2 240120699 240120700 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 2 240121191 240121191 single base substitution C G intron_variant MELA-AU 2 240121253 240121253 single base substitution C G intron_variant MELA-AU 2 240121326 240121326 single base substitution C G intron_variant MELA-AU 2 240121421 240121422 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 2 240121773 240121773 single base substitution T C intron_variant MELA-AU 2 240122677 240122677 single base substitution G A intron_variant MELA-AU 2 240122748 240122748 single base substitution G A intron_variant MELA-AU 2 240122877 240122877 single base substitution G A intron_variant MELA-AU 2 240123873 240123873 single base substitution G A intron_variant MELA-AU 2 240124026 240124026 single base substitution G A intron_variant MELA-AU 2 240126520 240126521 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240126525 240126525 single base substitution G A intron_variant MELA-AU 2 240127290 240127290 single base substitution G A intron_variant MELA-AU 2 240127380 240127380 single base substitution G A intron_variant MELA-AU 2 240128311 240128311 single base substitution C T intron_variant MELA-AU 2 240129944 240129944 single base substitution A G intron_variant MELA-AU 2 240130001 240130001 single base substitution G A intron_variant MELA-AU 2 240130299 240130299 single base substitution G A intron_variant MELA-AU 2 240131283 240131284 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240131394 240131394 single base substitution A C intron_variant MELA-AU 2 240132775 240132775 single base substitution A T intron_variant MELA-AU 2 240134471 240134471 single base substitution G A intron_variant MELA-AU 2 240135089 240135089 single base substitution C T intron_variant MELA-AU 2 240136249 240136249 single base substitution G A intron_variant MELA-AU 2 240136843 240136843 single base substitution G A intron_variant MELA-AU 2 240137304 240137304 single base substitution G A intron_variant MELA-AU 2 240141448 240141448 single base substitution A G intron_variant MELA-AU 2 240141602 240141602 single base substitution A C intron_variant MELA-AU 2 240141862 240141862 single base substitution A T intron_variant MELA-AU 2 240142643 240142643 single base substitution G A intron_variant MELA-AU 2 240142993 240142993 single base substitution G A intron_variant MELA-AU 2 240143148 240143148 single base substitution G A intron_variant MELA-AU 2 240143563 240143573 deletion of <=200bp GAACTTTGAGG - intron_variant MELA-AU 2 240143704 240143704 single base substitution C A intron_variant MELA-AU 2 240144037 240144037 single base substitution G A intron_variant MELA-AU 2 240144689 240144689 single base substitution G A intron_variant MELA-AU 2 240145078 240145078 single base substitution G A intron_variant MELA-AU 2 240145338 240145338 single base substitution G A intron_variant MELA-AU 2 240146730 240146730 single base substitution G A intron_variant MELA-AU 2 240147271 240147271 single base substitution G A intron_variant MELA-AU 2 240148028 240148029 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240148926 240148927 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 240153886 240153886 single base substitution G T downstream_gene_variant MELA-AU 2 240153886 240153886 single base substitution G T intron_variant MELA-AU 2 240154705 240154705 single base substitution G A downstream_gene_variant MELA-AU 2 240154705 240154705 single base substitution G A intron_variant MELA-AU 2 240155914 240155915 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 240155914 240155915 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 240156742 240156742 single base substitution T A downstream_gene_variant MELA-AU 2 240156742 240156742 single base substitution T A intron_variant MELA-AU 2 240156823 240156823 single base substitution A T downstream_gene_variant MELA-AU 2 240156823 240156823 single base substitution A T intron_variant MELA-AU 2 240157977 240157977 single base substitution G A downstream_gene_variant MELA-AU 2 240157977 240157977 single base substitution G A intron_variant MELA-AU 2 240158345 240158345 single base substitution C A 5_prime_UTR_variant MELA-AU 2 240158345 240158345 single base substitution C A exon_variant MELA-AU 2 240158345 240158345 single base substitution C A missense_variant R13L 38G>T MELA-AU 2 240158371 240158371 single base substitution G A intron_variant MELA-AU 2 240158371 240158371 single base substitution G A upstream_gene_variant MELA-AU 2 240159270 240159270 single base substitution G A intron_variant MELA-AU 2 240159270 240159270 single base substitution G A upstream_gene_variant MELA-AU 2 240159717 240159717 single base substitution G A intron_variant MELA-AU 2 240159717 240159717 single base substitution G A upstream_gene_variant MELA-AU 2 240161673 240161673 single base substitution G A intron_variant MELA-AU 2 240161673 240161673 single base substitution G A upstream_gene_variant MELA-AU 2 240161853 240161853 single base substitution G A intron_variant MELA-AU 2 240161853 240161853 single base substitution G A upstream_gene_variant MELA-AU 2 240162082 240162082 single base substitution G A intron_variant MELA-AU 2 240162082 240162082 single base substitution G A upstream_gene_variant MELA-AU 2 240162096 240162096 single base substitution G A intron_variant MELA-AU 2 240162096 240162096 single base substitution G A upstream_gene_variant MELA-AU 2 240162623 240162624 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240162623 240162624 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 240163201 240163201 single base substitution G A intron_variant MELA-AU 2 240163201 240163201 single base substitution G A upstream_gene_variant MELA-AU 2 240163282 240163282 single base substitution C T intron_variant MELA-AU 2 240163282 240163282 single base substitution C T upstream_gene_variant MELA-AU 2 240164510 240164510 single base substitution G A intron_variant MELA-AU 2 240164564 240164564 single base substitution C T intron_variant MELA-AU 2 240164882 240164882 single base substitution T C intron_variant MELA-AU 2 240164947 240164947 single base substitution C T intron_variant MELA-AU 2 240165298 240165298 single base substitution G A intron_variant MELA-AU 2 240165926 240165926 single base substitution G C intron_variant MELA-AU 2 240166066 240166066 insertion of <=200bp - GG intron_variant MELA-AU 2 240166069 240166070 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 240166462 240166462 single base substitution T C intron_variant MELA-AU 2 240166787 240166787 single base substitution A T intron_variant MELA-AU 2 240167132 240167132 single base substitution A G intron_variant MELA-AU 2 240168415 240168415 single base substitution G A intron_variant MELA-AU 2 240169122 240169122 single base substitution G A intron_variant MELA-AU 2 240169281 240169281 single base substitution G A intron_variant MELA-AU 2 240169576 240169576 single base substitution T A intron_variant MELA-AU 2 240169618 240169618 single base substitution T G intron_variant MELA-AU 2 240170535 240170535 single base substitution G A intron_variant MELA-AU 2 240170628 240170628 single base substitution G A intron_variant MELA-AU 2 240170628 240170629 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240170752 240170752 single base substitution G A intron_variant MELA-AU 2 240170793 240170793 single base substitution G A intron_variant MELA-AU 2 240170831 240170831 single base substitution G A intron_variant MELA-AU 2 240170894 240170894 single base substitution G A intron_variant MELA-AU 2 240171013 240171013 single base substitution G A intron_variant MELA-AU 2 240173293 240173293 single base substitution G A intron_variant MELA-AU 2 240174024 240174024 single base substitution G A intron_variant MELA-AU 2 240174419 240174419 single base substitution C T intron_variant MELA-AU 2 240175627 240175627 single base substitution G A intron_variant MELA-AU 2 240175714 240175714 single base substitution T A intron_variant MELA-AU 2 240176480 240176480 single base substitution A G intron_variant MELA-AU 2 240176513 240176513 single base substitution G T intron_variant MELA-AU 2 240176848 240176848 single base substitution C T intron_variant MELA-AU 2 240177243 240177243 single base substitution G A intron_variant MELA-AU 2 240178389 240178389 single base substitution G A intron_variant MELA-AU 2 240179549 240179549 single base substitution A C intron_variant MELA-AU 2 240179941 240179941 single base substitution C T intron_variant MELA-AU 2 240180119 240180119 single base substitution A C intron_variant MELA-AU 2 240180166 240180166 single base substitution G A intron_variant MELA-AU 2 240181330 240181330 single base substitution G A intron_variant MELA-AU 2 240181355 240181355 single base substitution G A intron_variant MELA-AU 2 240182148 240182148 single base substitution C T intron_variant MELA-AU 2 240182680 240182680 single base substitution G A intron_variant MELA-AU 2 240184306 240184306 single base substitution C T intron_variant MELA-AU 2 240184500 240184500 single base substitution G A intron_variant MELA-AU 2 240185341 240185341 single base substitution G A intron_variant MELA-AU 2 240185776 240185776 single base substitution G T intron_variant MELA-AU 2 240185959 240185959 single base substitution G A intron_variant MELA-AU 2 240185981 240185981 single base substitution C T intron_variant MELA-AU 2 240186872 240186878 deletion of <=200bp CAAGTGA - intron_variant MELA-AU 2 240187053 240187053 single base substitution C T intron_variant MELA-AU 2 240187266 240187266 single base substitution C T intron_variant MELA-AU 2 240187827 240187827 single base substitution G A intron_variant MELA-AU 2 240188743 240188743 single base substitution G A intron_variant MELA-AU 2 240188922 240188922 single base substitution G A intron_variant MELA-AU 2 240189222 240189222 single base substitution G A intron_variant MELA-AU 2 240189516 240189516 single base substitution G A intron_variant MELA-AU 2 240190189 240190189 single base substitution A G intron_variant MELA-AU 2 240190286 240190286 single base substitution G A intron_variant MELA-AU 2 240190583 240190583 single base substitution G A intron_variant MELA-AU 2 240190613 240190613 single base substitution G A intron_variant MELA-AU 2 240190741 240190741 single base substitution G A intron_variant MELA-AU 2 240191014 240191014 single base substitution C T intron_variant MELA-AU 2 240191504 240191504 single base substitution G A intron_variant MELA-AU 2 240191858 240191858 single base substitution G C intron_variant MELA-AU 2 240191980 240191980 single base substitution C T intron_variant MELA-AU 2 240192843 240192843 single base substitution C T intron_variant MELA-AU 2 240193921 240193921 single base substitution G A intron_variant MELA-AU 2 240193973 240193973 single base substitution G A intron_variant MELA-AU 2 240194282 240194282 single base substitution G C intron_variant MELA-AU 2 240194836 240194836 single base substitution G A intron_variant MELA-AU 2 240195642 240195642 single base substitution G A intron_variant MELA-AU 2 240196679 240196679 single base substitution G C intron_variant MELA-AU 2 240196967 240196967 single base substitution C T intron_variant MELA-AU 2 240198043 240198043 single base substitution G A intron_variant MELA-AU 2 240199002 240199002 single base substitution C T intron_variant MELA-AU 2 240199686 240199686 single base substitution C T intron_variant MELA-AU 2 240200745 240200745 single base substitution G A intron_variant MELA-AU 2 240201392 240201393 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240201403 240201403 single base substitution G A intron_variant MELA-AU 2 240202048 240202048 single base substitution C G intron_variant MELA-AU 2 240202264 240202264 single base substitution G A intron_variant MELA-AU 2 240202607 240202607 single base substitution T A intron_variant MELA-AU 2 240203580 240203580 single base substitution T A intron_variant MELA-AU 2 240204700 240204700 single base substitution T C intron_variant MELA-AU 2 240205445 240205445 single base substitution A G intron_variant MELA-AU 2 240205658 240205658 single base substitution G A intron_variant MELA-AU 2 240206187 240206187 single base substitution T C intron_variant MELA-AU 2 240206201 240206201 single base substitution C T intron_variant MELA-AU 2 240206362 240206362 single base substitution G A intron_variant MELA-AU 2 240206400 240206400 single base substitution G A intron_variant MELA-AU 2 240206816 240206816 single base substitution G A intron_variant MELA-AU 2 240206817 240206817 single base substitution G A intron_variant MELA-AU 2 240206993 240206993 single base substitution G A intron_variant MELA-AU 2 240208555 240208555 single base substitution G T intron_variant MELA-AU 2 240208727 240208727 single base substitution G A intron_variant MELA-AU 2 240209078 240209078 single base substitution C A intron_variant MELA-AU 2 240209269 240209269 single base substitution A G intron_variant MELA-AU 2 240209680 240209680 single base substitution A G intron_variant MELA-AU 2 240210029 240210029 single base substitution T G intron_variant MELA-AU 2 240210509 240210509 single base substitution G A intron_variant MELA-AU 2 240210597 240210597 single base substitution A G intron_variant MELA-AU 2 240212771 240212771 single base substitution G A intron_variant MELA-AU 2 240213904 240213904 single base substitution C T intron_variant MELA-AU 2 240214342 240214342 single base substitution C G intron_variant MELA-AU 2 240215088 240215088 single base substitution C T intron_variant MELA-AU 2 240215317 240215317 single base substitution G A intron_variant MELA-AU 2 240215335 240215335 single base substitution C T intron_variant MELA-AU 2 240216035 240216035 single base substitution G A intron_variant MELA-AU 2 240216378 240216378 single base substitution G A intron_variant MELA-AU 2 240216593 240216593 single base substitution G A intron_variant MELA-AU 2 240217470 240217470 single base substitution G A intron_variant MELA-AU 2 240219237 240219237 single base substitution T A intron_variant MELA-AU 2 240219256 240219256 single base substitution G A intron_variant MELA-AU 2 240219368 240219368 single base substitution G A intron_variant MELA-AU 2 240219814 240219814 single base substitution G A intron_variant MELA-AU 2 240219887 240219887 single base substitution G A exon_variant MELA-AU 2 240219887 240219887 single base substitution G A intron_variant MELA-AU 2 240220197 240220197 single base substitution C T exon_variant MELA-AU 2 240220197 240220197 single base substitution C T intron_variant MELA-AU 2 240220360 240220360 single base substitution T C intron_variant MELA-AU 2 240220360 240220360 single base substitution T C upstream_gene_variant MELA-AU 2 240221817 240221817 single base substitution G C intron_variant MELA-AU 2 240221817 240221817 single base substitution G C upstream_gene_variant MELA-AU 2 240222635 240222635 single base substitution C T intron_variant MELA-AU 2 240222635 240222635 single base substitution C T upstream_gene_variant MELA-AU 2 240223158 240223161 deletion of <=200bp CTTT - intron_variant MELA-AU 2 240223158 240223161 deletion of <=200bp CTTT - upstream_gene_variant MELA-AU 2 240223732 240223733 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240223732 240223733 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 240225212 240225213 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240225212 240225213 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 240225526 240225526 single base substitution C T intron_variant MELA-AU 2 240225694 240225694 single base substitution G A intron_variant MELA-AU 2 240226492 240226493 multiple base substitution (>=2bp and <=200bp) TG CT intron_variant MELA-AU 2 240226495 240226495 single base substitution C T intron_variant MELA-AU 2 240226725 240226725 single base substitution G A intron_variant MELA-AU 2 240226838 240226838 single base substitution G A intron_variant MELA-AU 2 240227537 240227537 single base substitution C T intron_variant MELA-AU 2 240227661 240227661 single base substitution C T intron_variant MELA-AU 2 240228122 240228122 single base substitution C T intron_variant MELA-AU 2 240228392 240228392 single base substitution G A intron_variant MELA-AU 2 240228874 240228874 single base substitution G A intron_variant MELA-AU 2 240229198 240229198 single base substitution G A intron_variant MELA-AU 2 240229459 240229459 single base substitution G A intron_variant MELA-AU 2 240229460 240229460 single base substitution G A intron_variant MELA-AU 2 240229467 240229467 single base substitution G A intron_variant MELA-AU 2 240229501 240229501 single base substitution G A intron_variant MELA-AU 2 240229942 240229942 single base substitution G A intron_variant MELA-AU 2 240229969 240229969 single base substitution G A intron_variant MELA-AU 2 240231986 240231986 single base substitution G A intron_variant MELA-AU 2 240231986 240231986 single base substitution G A upstream_gene_variant MELA-AU 2 240232109 240232109 single base substitution G A intron_variant MELA-AU 2 240232109 240232109 single base substitution G A upstream_gene_variant MELA-AU 2 240232626 240232626 single base substitution G A intron_variant MELA-AU 2 240232626 240232626 single base substitution G A upstream_gene_variant MELA-AU 2 240232816 240232816 single base substitution T C intron_variant MELA-AU 2 240232816 240232816 single base substitution T C upstream_gene_variant MELA-AU 2 240233693 240233693 single base substitution G A intron_variant MELA-AU 2 240233693 240233693 single base substitution G A upstream_gene_variant MELA-AU 2 240233764 240233764 single base substitution C T intron_variant MELA-AU 2 240233764 240233764 single base substitution C T upstream_gene_variant MELA-AU 2 240234023 240234023 single base substitution G A intron_variant MELA-AU 2 240234023 240234023 single base substitution G A upstream_gene_variant MELA-AU 2 240234174 240234174 single base substitution G A intron_variant MELA-AU 2 240234174 240234174 single base substitution G A upstream_gene_variant MELA-AU 2 240234721 240234721 single base substitution G A intron_variant MELA-AU 2 240234721 240234721 single base substitution G A upstream_gene_variant MELA-AU 2 240234989 240234989 single base substitution G C intron_variant MELA-AU 2 240234989 240234989 single base substitution G C upstream_gene_variant MELA-AU 2 240235675 240235676 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240235675 240235676 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 240235722 240235722 single base substitution C T intron_variant MELA-AU 2 240235722 240235722 single base substitution C T upstream_gene_variant MELA-AU 2 240235741 240235741 single base substitution G A intron_variant MELA-AU 2 240235741 240235741 single base substitution G A upstream_gene_variant MELA-AU 2 240236203 240236203 single base substitution G A intron_variant MELA-AU 2 240236681 240236681 single base substitution G C intron_variant MELA-AU 2 240236791 240236791 single base substitution G C intron_variant MELA-AU 2 240236807 240236807 single base substitution A G intron_variant MELA-AU 2 240236946 240236946 single base substitution G A intron_variant MELA-AU 2 240236957 240236957 single base substitution G C intron_variant MELA-AU 2 240237067 240237067 single base substitution G C intron_variant MELA-AU 2 240237557 240237557 single base substitution G A intron_variant MELA-AU 2 240238291 240238291 single base substitution C T intron_variant MELA-AU 2 240238313 240238313 single base substitution G A intron_variant MELA-AU 2 240238382 240238382 single base substitution G T intron_variant MELA-AU 2 240238512 240238512 single base substitution G A intron_variant MELA-AU 2 240238614 240238614 single base substitution A T intron_variant MELA-AU 2 240238941 240238941 single base substitution G A intron_variant MELA-AU 2 240239017 240239018 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 2 240239723 240239723 single base substitution C T intron_variant MELA-AU 2 240240340 240240341 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240240661 240240662 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 240240702 240240702 single base substitution G A intron_variant MELA-AU 2 240241802 240241802 single base substitution G A intron_variant MELA-AU 2 240242213 240242213 single base substitution G A intron_variant MELA-AU 2 240242484 240242484 single base substitution G C intron_variant MELA-AU 2 240242504 240242504 single base substitution C T intron_variant MELA-AU 2 240242664 240242664 single base substitution G A intron_variant MELA-AU 2 240243035 240243035 single base substitution C G intron_variant MELA-AU 2 240243249 240243249 single base substitution T A intron_variant MELA-AU 2 240243882 240243882 single base substitution C T intron_variant MELA-AU 2 240244469 240244469 single base substitution G A intron_variant MELA-AU 2 240244517 240244517 single base substitution G A intron_variant MELA-AU 2 240244536 240244536 single base substitution C T intron_variant MELA-AU 2 240244950 240244950 single base substitution G A intron_variant MELA-AU 2 240245145 240245145 single base substitution A C intron_variant MELA-AU 2 240246339 240246339 single base substitution C T intron_variant MELA-AU 2 240246584 240246584 single base substitution G A intron_variant MELA-AU 2 240246798 240246798 single base substitution A T intron_variant MELA-AU 2 240248739 240248739 single base substitution G A intron_variant MELA-AU 2 240248778 240248778 single base substitution C G intron_variant MELA-AU 2 240250898 240250898 single base substitution G A intron_variant MELA-AU 2 240250899 240250899 single base substitution G A intron_variant MELA-AU 2 240251226 240251227 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 240251237 240251237 single base substitution C T intron_variant MELA-AU 2 240252937 240252937 single base substitution G A intron_variant MELA-AU 2 240253019 240253019 single base substitution G A intron_variant MELA-AU 2 240253484 240253484 single base substitution G A intron_variant MELA-AU 2 240253560 240253560 single base substitution C T intron_variant MELA-AU 2 240253570 240253570 single base substitution G A intron_variant MELA-AU 2 240253854 240253854 single base substitution G A intron_variant MELA-AU 2 240254959 240254959 single base substitution G A intron_variant MELA-AU 2 240254969 240254969 single base substitution A C intron_variant MELA-AU 2 240255999 240255999 single base substitution G A intron_variant MELA-AU 2 240256142 240256142 single base substitution G A intron_variant MELA-AU 2 240256434 240256434 single base substitution G A intron_variant MELA-AU 2 240258142 240258142 single base substitution G A intron_variant MELA-AU 2 240258707 240258707 single base substitution G A intron_variant MELA-AU 2 240258911 240258911 single base substitution G A intron_variant MELA-AU 2 240258983 240258983 single base substitution G A intron_variant MELA-AU 2 240258990 240258990 single base substitution A G intron_variant MELA-AU 2 240259067 240259067 single base substitution G A intron_variant MELA-AU 2 240259400 240259400 single base substitution G A intron_variant MELA-AU 2 240259494 240259494 single base substitution C T intron_variant MELA-AU 2 240260131 240260131 single base substitution C T intron_variant MELA-AU 2 240260313 240260313 single base substitution A T intron_variant MELA-AU 2 240260502 240260502 single base substitution A C intron_variant MELA-AU 2 240260567 240260567 single base substitution C T intron_variant MELA-AU 2 240261050 240261051 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 240261238 240261238 single base substitution C A intron_variant MELA-AU 2 240261940 240261940 single base substitution C A intron_variant MELA-AU 2 240262504 240262504 single base substitution G A intron_variant MELA-AU 2 240262976 240262976 single base substitution A T intron_variant MELA-AU 2 240263207 240263208 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 240264248 240264248 single base substitution G A intron_variant MELA-AU 2 240265397 240265398 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240265471 240265471 single base substitution G A intron_variant MELA-AU 2 240266338 240266338 single base substitution T A intron_variant MELA-AU 2 240266767 240266767 single base substitution G A intron_variant MELA-AU 2 240267343 240267343 single base substitution C T intron_variant MELA-AU 2 240267680 240267680 single base substitution C T intron_variant MELA-AU 2 240268692 240268692 single base substitution A G intron_variant MELA-AU 2 240269333 240269333 single base substitution C T intron_variant MELA-AU 2 240270098 240270098 single base substitution G A intron_variant MELA-AU 2 240270919 240270919 single base substitution G A intron_variant MELA-AU 2 240270948 240270948 single base substitution G A intron_variant MELA-AU 2 240270987 240270987 single base substitution G A intron_variant MELA-AU 2 240273818 240273819 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 240274107 240274107 single base substitution G T intron_variant MELA-AU 2 240274465 240274465 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 2 240274465 240274465 single base substitution G A exon_variant MELA-AU 2 240275089 240275089 single base substitution G A intron_variant MELA-AU 2 240275370 240275370 single base substitution C T intron_variant MELA-AU 2 240275968 240275968 single base substitution T A intron_variant MELA-AU 2 240275982 240275982 single base substitution G T intron_variant MELA-AU 2 240276690 240276690 single base substitution A G intron_variant MELA-AU 2 240276904 240276904 single base substitution G A intron_variant MELA-AU 2 240277426 240277426 single base substitution G A intron_variant MELA-AU 2 240279282 240279282 single base substitution G A intron_variant MELA-AU 2 240280044 240280044 single base substitution G A intron_variant MELA-AU 2 240281946 240281946 single base substitution G A intron_variant MELA-AU 2 240281972 240281972 single base substitution G A intron_variant MELA-AU 2 240282347 240282347 single base substitution T G intron_variant MELA-AU 2 240282409 240282409 single base substitution G A intron_variant MELA-AU 2 240282428 240282428 single base substitution G A intron_variant MELA-AU 2 240282659 240282659 single base substitution G A intron_variant MELA-AU 2 240283163 240283163 single base substitution T A intron_variant MELA-AU 2 240284433 240284433 single base substitution C T intron_variant MELA-AU 2 240284435 240284435 single base substitution A G intron_variant MELA-AU 2 240285114 240285114 single base substitution G A intron_variant MELA-AU 2 240285160 240285160 single base substitution G A intron_variant MELA-AU 2 240285328 240285328 single base substitution G A intron_variant MELA-AU 2 240285355 240285355 single base substitution C T intron_variant MELA-AU 2 240286213 240286213 single base substitution G A intron_variant MELA-AU 2 240286231 240286231 single base substitution C T intron_variant MELA-AU 2 240286249 240286249 single base substitution G A intron_variant MELA-AU 2 240286666 240286666 single base substitution G A intron_variant MELA-AU 2 240287516 240287517 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240288054 240288054 single base substitution G A intron_variant MELA-AU 2 240288088 240288088 single base substitution T C intron_variant MELA-AU 2 240288216 240288216 single base substitution G A intron_variant MELA-AU 2 240288398 240288399 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 2 240288591 240288591 single base substitution G A intron_variant MELA-AU 2 240290030 240290030 single base substitution G A intron_variant MELA-AU 2 240290511 240290511 single base substitution G A intron_variant MELA-AU 2 240290802 240290802 single base substitution C T intron_variant MELA-AU 2 240290860 240290860 single base substitution G T intron_variant MELA-AU 2 240291054 240291054 single base substitution G A intron_variant MELA-AU 2 240292776 240292776 single base substitution G A intron_variant MELA-AU 2 240292820 240292820 single base substitution G A intron_variant MELA-AU 2 240293453 240293453 single base substitution G A intron_variant MELA-AU 2 240293457 240293457 single base substitution G A intron_variant MELA-AU 2 240294615 240294615 single base substitution C T intron_variant MELA-AU 2 240295545 240295545 single base substitution G A intron_variant MELA-AU 2 240295974 240295975 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240296047 240296047 single base substitution G A intron_variant MELA-AU 2 240296527 240296527 single base substitution G A intron_variant MELA-AU 2 240297458 240297458 single base substitution C G intron_variant MELA-AU 2 240297576 240297576 single base substitution G A intron_variant MELA-AU 2 240298334 240298334 single base substitution C T intron_variant MELA-AU 2 240298749 240298749 single base substitution T C intron_variant MELA-AU 2 240299120 240299120 single base substitution G A intron_variant MELA-AU 2 240299237 240299237 single base substitution G A intron_variant MELA-AU 2 240299440 240299441 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 2 240299481 240299481 single base substitution C T intron_variant MELA-AU 2 240299709 240299709 single base substitution C G intron_variant MELA-AU 2 240301114 240301114 single base substitution G A intron_variant MELA-AU 2 240301459 240301459 single base substitution C A intron_variant MELA-AU 2 240301619 240301619 single base substitution G A intron_variant MELA-AU 2 240302460 240302460 single base substitution C T intron_variant MELA-AU 2 240302535 240302535 single base substitution C T intron_variant MELA-AU 2 240302569 240302569 single base substitution G A intron_variant MELA-AU 2 240302654 240302654 single base substitution G A intron_variant MELA-AU 2 240302881 240302881 single base substitution G A intron_variant MELA-AU 2 240303115 240303115 single base substitution G A intron_variant MELA-AU 2 240303223 240303223 single base substitution G A intron_variant MELA-AU 2 240303534 240303534 single base substitution G A intron_variant MELA-AU 2 240303537 240303537 single base substitution G A intron_variant MELA-AU 2 240303892 240303892 single base substitution T C intron_variant MELA-AU 2 240305403 240305403 single base substitution G A intron_variant MELA-AU 2 240305868 240305869 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 240306658 240306658 single base substitution A C intron_variant MELA-AU 2 240307631 240307631 single base substitution G A intron_variant MELA-AU 2 240308097 240308097 single base substitution G A intron_variant MELA-AU 2 240308193 240308193 single base substitution G A intron_variant MELA-AU 2 240308239 240308239 single base substitution C T intron_variant MELA-AU 2 240308841 240308841 single base substitution G A intron_variant MELA-AU 2 240309153 240309153 single base substitution G A intron_variant MELA-AU 2 240309517 240309517 single base substitution G A intron_variant MELA-AU 2 240309674 240309674 single base substitution G A intron_variant MELA-AU 2 240309819 240309819 single base substitution G A intron_variant MELA-AU 2 240309910 240309910 single base substitution G A intron_variant MELA-AU 2 240309918 240309918 single base substitution G A intron_variant MELA-AU 2 240310348 240310348 single base substitution G A intron_variant MELA-AU 2 240310490 240310490 single base substitution G A intron_variant MELA-AU 2 240310753 240310753 single base substitution G A intron_variant MELA-AU 2 240310755 240310755 single base substitution G A intron_variant MELA-AU 2 240310902 240310902 single base substitution G A intron_variant MELA-AU 2 240311448 240311448 insertion of <=200bp - C intron_variant MELA-AU 2 240311580 240311580 single base substitution C T intron_variant MELA-AU 2 240311830 240311830 single base substitution G A intron_variant MELA-AU 2 240311935 240311936 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 240313711 240313711 single base substitution A T intron_variant MELA-AU 2 240313796 240313796 single base substitution G C intron_variant MELA-AU 2 240316736 240316736 single base substitution G A intron_variant MELA-AU 2 240316776 240316776 single base substitution G A intron_variant MELA-AU 2 240318140 240318140 single base substitution G A intron_variant MELA-AU 2 240318681 240318682 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 240319802 240319802 single base substitution G A intron_variant MELA-AU 2 240320921 240320921 single base substitution C T intron_variant MELA-AU 2 240323011 240323011 single base substitution G A intron_variant MELA-AU 2 240323011 240323011 single base substitution G A upstream_gene_variant MELA-AU 2 240323078 240323078 single base substitution C A intron_variant MELA-AU 2 240323078 240323078 single base substitution C A upstream_gene_variant MELA-AU 2 240323083 240323083 single base substitution G A intron_variant MELA-AU 2 240323083 240323083 single base substitution G A upstream_gene_variant MELA-AU 2 240325178 240325178 single base substitution C T upstream_gene_variant MELA-AU 2 240326069 240326069 single base substitution C T upstream_gene_variant MELA-AU 2 240326791 240326791 single base substitution G A upstream_gene_variant MELA-AU 2 240326879 240326879 single base substitution T A upstream_gene_variant MELA-AU 2 240326901 240326901 single base substitution G A upstream_gene_variant MELA-AU 2 240327254 240327254 single base substitution C T upstream_gene_variant MELA-AU 2 240327317 240327317 single base substitution G A upstream_gene_variant MELA-AU 2 240327479 240327479 single base substitution G A upstream_gene_variant MELA-AU 2 240327621 240327621 single base substitution G A upstream_gene_variant MELA-AU 2 240327796 240327796 single base substitution G A upstream_gene_variant MELA-AU 2 240328043 240328043 single base substitution G A upstream_gene_variant MELA-AU 2 240328304 240328304 single base substitution C T upstream_gene_variant ORCA-IN 2 239970280 239970280 single base substitution G T 3_prime_UTR_variant ORCA-IN 2 239970280 239970280 single base substitution G T downstream_gene_variant ORCA-IN 2 240002873 240002873 single base substitution C G exon_variant ORCA-IN 2 240002873 240002873 single base substitution C G missense_variant G469R 1405G>C ORCA-IN 2 240002873 240002873 single base substitution C G missense_variant G885R 2653G>C ORCA-IN 2 240002873 240002873 single base substitution C G upstream_gene_variant ORCA-IN 2 240011440 240011440 deletion of <=200bp A - downstream_gene_variant ORCA-IN 2 240011440 240011440 deletion of <=200bp A - exon_variant ORCA-IN 2 240011440 240011440 deletion of <=200bp A - intron_variant ORCA-IN 2 240011440 240011441 deletion of <=200bp AA - downstream_gene_variant ORCA-IN 2 240011440 240011441 deletion of <=200bp AA - exon_variant ORCA-IN 2 240011440 240011441 deletion of <=200bp AA - intron_variant ORCA-IN 2 240013941 240013941 deletion of <=200bp G - downstream_gene_variant ORCA-IN 2 240013941 240013941 deletion of <=200bp G - intron_variant ORCA-IN 2 240018939 240018939 single base substitution G C intron_variant ORCA-IN 2 240033283 240033283 single base substitution G T exon_variant ORCA-IN 2 240033283 240033283 single base substitution G T synonymous_variant P218P 654C>A ORCA-IN 2 240033283 240033283 single base substitution G T synonymous_variant P608P 1824C>A ORCA-IN 2 240033283 240033283 single base substitution G T synonymous_variant P634P 1902C>A ORCA-IN 2 240033283 240033283 single base substitution G T upstream_gene_variant ORCA-IN 2 240041253 240041253 single base substitution G A intron_variant ORCA-IN 2 240057841 240057841 single base substitution A G intron_variant ORCA-IN 2 240073686 240073686 single base substitution T C intron_variant ORCA-IN 2 240075529 240075529 single base substitution G C intron_variant ORCA-IN 2 240091055 240091055 single base substitution C T intron_variant ORCA-IN 2 240099111 240099111 single base substitution G A intron_variant ORCA-IN 2 240100097 240100097 single base substitution G C intron_variant ORCA-IN 2 240117797 240117797 single base substitution C G intron_variant ORCA-IN 2 240119519 240119519 single base substitution T C intron_variant ORCA-IN 2 240119543 240119543 single base substitution T G intron_variant ORCA-IN 2 240169311 240169311 single base substitution C T intron_variant ORCA-IN 2 240169605 240169605 single base substitution C T intron_variant ORCA-IN 2 240171255 240171255 single base substitution G A intron_variant ORCA-IN 2 240198244 240198244 single base substitution A T intron_variant ORCA-IN 2 240198784 240198784 single base substitution C T intron_variant ORCA-IN 2 240202378 240202378 single base substitution G A intron_variant ORCA-IN 2 240212772 240212772 single base substitution G A intron_variant ORCA-IN 2 240222878 240222878 single base substitution G A intron_variant ORCA-IN 2 240222878 240222878 single base substitution G A upstream_gene_variant ORCA-IN 2 240241184 240241184 single base substitution G A intron_variant ORCA-IN 2 240261166 240261166 single base substitution G A intron_variant ORCA-IN 2 240272048 240272048 single base substitution G C intron_variant ORCA-IN 2 240321484 240321484 single base substitution C T intron_variant ORCA-IN 2 240323921 240323921 single base substitution T G upstream_gene_variant ORCA-IN 2 240327516 240327516 single base substitution C G upstream_gene_variant OV-AU 2 239966783 239966783 single base substitution G C downstream_gene_variant OV-AU 2 239974869 239974869 single base substitution G C downstream_gene_variant OV-AU 2 239974869 239974869 single base substitution G C intron_variant OV-AU 2 239978440 239978440 single base substitution A T intron_variant OV-AU 2 239979796 239979796 single base substitution T G intron_variant OV-AU 2 239988468 239988468 single base substitution C T exon_variant OV-AU 2 239988468 239988468 single base substitution C T missense_variant A564T 1690G>A OV-AU 2 239988468 239988468 single base substitution C T missense_variant A70T 208G>A OV-AU 2 239988468 239988468 single base substitution C T missense_variant A980T 2938G>A OV-AU 2 239992821 239992821 single base substitution G A intron_variant OV-AU 2 239992821 239992821 single base substitution G A upstream_gene_variant OV-AU 2 240002576 240002576 single base substitution C T downstream_gene_variant OV-AU 2 240002576 240002576 single base substitution C T intron_variant OV-AU 2 240004608 240004608 single base substitution C T intron_variant OV-AU 2 240004608 240004608 single base substitution C T upstream_gene_variant OV-AU 2 240006449 240006449 single base substitution C G downstream_gene_variant OV-AU 2 240006449 240006449 single base substitution C G intron_variant OV-AU 2 240006449 240006449 single base substitution C G upstream_gene_variant OV-AU 2 240006578 240006578 single base substitution A C downstream_gene_variant OV-AU 2 240006578 240006578 single base substitution A C intron_variant OV-AU 2 240006578 240006578 single base substitution A C upstream_gene_variant OV-AU 2 240008089 240008089 single base substitution C T downstream_gene_variant OV-AU 2 240008089 240008089 single base substitution C T intron_variant OV-AU 2 240015763 240015763 single base substitution G C downstream_gene_variant OV-AU 2 240015763 240015763 single base substitution G C intron_variant OV-AU 2 240016575 240016575 single base substitution T C 3_prime_UTR_variant OV-AU 2 240016575 240016575 single base substitution T C downstream_gene_variant OV-AU 2 240016575 240016575 single base substitution T C exon_variant OV-AU 2 240016575 240016575 single base substitution T C intron_variant OV-AU 2 240019876 240019876 single base substitution T A downstream_gene_variant OV-AU 2 240019876 240019876 single base substitution T A intron_variant OV-AU 2 240021239 240021239 single base substitution C T downstream_gene_variant OV-AU 2 240021239 240021239 single base substitution C T intron_variant OV-AU 2 240023088 240023088 single base substitution G A downstream_gene_variant OV-AU 2 240023088 240023088 single base substitution G A intron_variant OV-AU 2 240036708 240036708 single base substitution G T intron_variant OV-AU 2 240036850 240036850 single base substitution T A exon_variant OV-AU 2 240036850 240036850 single base substitution T A stop_gained K143* 427A>T OV-AU 2 240036850 240036850 single base substitution T A stop_gained K533* 1597A>T OV-AU 2 240036850 240036850 single base substitution T A stop_gained K559* 1675A>T OV-AU 2 240039493 240039493 single base substitution G C intron_variant OV-AU 2 240042186 240042186 single base substitution A G intron_variant OV-AU 2 240053481 240053481 single base substitution G T downstream_gene_variant OV-AU 2 240053481 240053481 single base substitution G T intron_variant OV-AU 2 240062347 240062347 single base substitution C T intron_variant OV-AU 2 240069535 240069535 single base substitution C T intron_variant OV-AU 2 240077236 240077236 single base substitution T C 5_prime_UTR_variant OV-AU 2 240077236 240077236 single base substitution T C exon_variant OV-AU 2 240077236 240077236 single base substitution T C intron_variant OV-AU 2 240077236 240077236 single base substitution T C upstream_gene_variant OV-AU 2 240080239 240080239 single base substitution C T intron_variant OV-AU 2 240080239 240080239 single base substitution C T upstream_gene_variant OV-AU 2 240091855 240091855 single base substitution T G intron_variant OV-AU 2 240096036 240096036 single base substitution G A downstream_gene_variant OV-AU 2 240096036 240096036 single base substitution G A intron_variant OV-AU 2 240109479 240109479 single base substitution C T intron_variant OV-AU 2 240109565 240109565 single base substitution G C intron_variant OV-AU 2 240121297 240121297 single base substitution C T intron_variant OV-AU 2 240125352 240125352 single base substitution C T intron_variant OV-AU 2 240128993 240128993 single base substitution C T intron_variant OV-AU 2 240130721 240130721 single base substitution C T intron_variant OV-AU 2 240132285 240132285 single base substitution G A intron_variant OV-AU 2 240139630 240139630 single base substitution A G intron_variant OV-AU 2 240154293 240154293 single base substitution C T downstream_gene_variant OV-AU 2 240154293 240154293 single base substitution C T intron_variant OV-AU 2 240167374 240167374 single base substitution C T intron_variant OV-AU 2 240171826 240171826 single base substitution G A intron_variant OV-AU 2 240191119 240191119 single base substitution C A intron_variant OV-AU 2 240195767 240195767 single base substitution T G intron_variant OV-AU 2 240196365 240196365 single base substitution C T intron_variant OV-AU 2 240196787 240196787 single base substitution G A intron_variant OV-AU 2 240197383 240197383 single base substitution G C intron_variant OV-AU 2 240199544 240199544 single base substitution C A intron_variant OV-AU 2 240201475 240201475 single base substitution C T intron_variant OV-AU 2 240202616 240202616 single base substitution C G intron_variant OV-AU 2 240205132 240205132 single base substitution A G intron_variant OV-AU 2 240214188 240214188 single base substitution C A intron_variant OV-AU 2 240214948 240214948 single base substitution T C intron_variant OV-AU 2 240215094 240215094 single base substitution G A intron_variant OV-AU 2 240218650 240218650 single base substitution C T intron_variant OV-AU 2 240235617 240235617 single base substitution G C intron_variant OV-AU 2 240235617 240235617 single base substitution G C upstream_gene_variant OV-AU 2 240236017 240236017 single base substitution C G intron_variant OV-AU 2 240236876 240236876 single base substitution C T intron_variant OV-AU 2 240240643 240240643 single base substitution C A intron_variant OV-AU 2 240245039 240245039 single base substitution C T intron_variant OV-AU 2 240245828 240245828 single base substitution G T intron_variant OV-AU 2 240250584 240250584 single base substitution C G intron_variant OV-AU 2 240251943 240251943 single base substitution T C intron_variant OV-AU 2 240253316 240253316 single base substitution C T intron_variant OV-AU 2 240254103 240254103 single base substitution T G intron_variant OV-AU 2 240259580 240259580 single base substitution G C intron_variant OV-AU 2 240270793 240270793 single base substitution C T intron_variant OV-AU 2 240272474 240272474 single base substitution G A intron_variant OV-AU 2 240279611 240279611 single base substitution A G intron_variant OV-AU 2 240281256 240281256 single base substitution A C intron_variant OV-AU 2 240283732 240283732 single base substitution A T intron_variant OV-AU 2 240289965 240289965 single base substitution G A intron_variant OV-AU 2 240290902 240290902 single base substitution C T intron_variant OV-AU 2 240298403 240298403 single base substitution A G intron_variant OV-AU 2 240308190 240308190 single base substitution C G intron_variant OV-AU 2 240308718 240308718 single base substitution G T intron_variant OV-AU 2 240318645 240318645 single base substitution G A intron_variant OV-AU 2 240322460 240322460 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant OV-AU 2 240322460 240322460 single base substitution C A intron_variant PACA-AU 2 239965394 239965394 single base substitution C T downstream_gene_variant PACA-AU 2 239967252 239967252 single base substitution C A downstream_gene_variant PACA-AU 2 239977652 239977652 single base substitution C T intron_variant PACA-AU 2 239981633 239981633 single base substitution C T intron_variant PACA-AU 2 239981762 239981762 single base substitution C T intron_variant PACA-AU 2 239986046 239986046 single base substitution A C intron_variant PACA-AU 2 239988510 239988510 single base substitution C T exon_variant PACA-AU 2 239988510 239988510 single base substitution C T missense_variant G550S 1648G>A PACA-AU 2 239988510 239988510 single base substitution C T missense_variant G56S 166G>A PACA-AU 2 239988510 239988510 single base substitution C T missense_variant G966S 2896G>A PACA-AU 2 240008778 240008778 single base substitution C T downstream_gene_variant PACA-AU 2 240008778 240008778 single base substitution C T intron_variant PACA-AU 2 240011193 240011193 single base substitution T G downstream_gene_variant PACA-AU 2 240011193 240011193 single base substitution T G intron_variant PACA-AU 2 240015986 240015986 single base substitution T C downstream_gene_variant PACA-AU 2 240015986 240015986 single base substitution T C intron_variant PACA-AU 2 240019459 240019459 single base substitution T C downstream_gene_variant PACA-AU 2 240019459 240019459 single base substitution T C intron_variant PACA-AU 2 240020029 240020029 single base substitution G A downstream_gene_variant PACA-AU 2 240020029 240020029 single base substitution G A intron_variant PACA-AU 2 240025033 240025033 single base substitution G A intron_variant PACA-AU 2 240025033 240025033 single base substitution G A upstream_gene_variant PACA-AU 2 240026493 240026493 single base substitution G C intron_variant PACA-AU 2 240026493 240026493 single base substitution G C upstream_gene_variant PACA-AU 2 240037055 240037055 single base substitution G A intron_variant PACA-AU 2 240039014 240039014 single base substitution T C intron_variant PACA-AU 2 240040326 240040326 single base substitution G A intron_variant PACA-AU 2 240050377 240050377 single base substitution C T intron_variant PACA-AU 2 240051804 240051804 single base substitution G A downstream_gene_variant PACA-AU 2 240051804 240051804 single base substitution G A intron_variant PACA-AU 2 240060847 240060847 single base substitution C T intron_variant PACA-AU 2 240061532 240061532 single base substitution C T intron_variant PACA-AU 2 240063392 240063392 single base substitution C A intron_variant PACA-AU 2 240063392 240063392 single base substitution C A upstream_gene_variant PACA-AU 2 240065129 240065129 single base substitution C T intron_variant PACA-AU 2 240065129 240065129 single base substitution C T upstream_gene_variant PACA-AU 2 240070655 240070655 single base substitution T C intron_variant PACA-AU 2 240071258 240071258 single base substitution T C intron_variant PACA-AU 2 240085687 240085687 single base substitution C T intron_variant PACA-AU 2 240086174 240086174 single base substitution G A intron_variant PACA-AU 2 240087331 240087331 single base substitution G C intron_variant PACA-AU 2 240088391 240088391 single base substitution G A intron_variant PACA-AU 2 240090647 240090647 single base substitution G A intron_variant PACA-AU 2 240090985 240090985 single base substitution G C intron_variant PACA-AU 2 240092743 240092743 single base substitution G A intron_variant PACA-AU 2 240096169 240096169 single base substitution G T downstream_gene_variant PACA-AU 2 240096169 240096169 single base substitution G T intron_variant PACA-AU 2 240097022 240097022 single base substitution C A downstream_gene_variant PACA-AU 2 240097022 240097022 single base substitution C A intron_variant PACA-AU 2 240101625 240101625 single base substitution C T intron_variant PACA-AU 2 240101760 240101760 single base substitution G A intron_variant PACA-AU 2 240107394 240107394 single base substitution C A downstream_gene_variant PACA-AU 2 240107394 240107394 single base substitution C A intron_variant PACA-AU 2 240111117 240111117 single base substitution G C intron_variant PACA-AU 2 240111638 240111638 single base substitution G A exon_variant PACA-AU 2 240111638 240111638 single base substitution G A missense_variant A46V 137C>T PACA-AU 2 240111638 240111638 single base substitution G A missense_variant A50V 149C>T PACA-AU 2 240111638 240111638 single base substitution G A missense_variant A77V 230C>T PACA-AU 2 240112249 240112249 single base substitution C T intron_variant PACA-AU 2 240116586 240116586 single base substitution G A intron_variant PACA-AU 2 240116586 240116586 single base substitution G A upstream_gene_variant PACA-AU 2 240119212 240119212 single base substitution G A intron_variant PACA-AU 2 240119694 240119694 single base substitution G A intron_variant PACA-AU 2 240123761 240123761 single base substitution C T intron_variant PACA-AU 2 240131700 240131700 single base substitution A G intron_variant PACA-AU 2 240135617 240135617 single base substitution C A intron_variant PACA-AU 2 240135745 240135745 single base substitution G T intron_variant PACA-AU 2 240135989 240135989 single base substitution C T intron_variant PACA-AU 2 240146078 240146078 single base substitution G A intron_variant PACA-AU 2 240147982 240147982 deletion of <=200bp G - intron_variant PACA-AU 2 240166063 240166063 single base substitution C T intron_variant PACA-AU 2 240171617 240171617 single base substitution C G intron_variant PACA-AU 2 240174908 240174908 single base substitution T C intron_variant PACA-AU 2 240174949 240174949 single base substitution A C intron_variant PACA-AU 2 240183028 240183028 single base substitution G A intron_variant PACA-AU 2 240184967 240185006 deletion of <=200bp CCCAGCCCAGCCCCCTACACATCAGCTGTCTCGAAGCCCA - intron_variant PACA-AU 2 240187690 240187690 single base substitution C T intron_variant PACA-AU 2 240190297 240190297 single base substitution C A intron_variant PACA-AU 2 240191449 240191449 single base substitution G A intron_variant PACA-AU 2 240192079 240192079 single base substitution G A intron_variant PACA-AU 2 240197022 240197022 single base substitution A T intron_variant PACA-AU 2 240198416 240198416 single base substitution A G intron_variant PACA-AU 2 240198419 240198419 single base substitution C G intron_variant PACA-AU 2 240205046 240205046 single base substitution G C intron_variant PACA-AU 2 240211880 240211880 single base substitution A C intron_variant PACA-AU 2 240214384 240214384 single base substitution C A intron_variant PACA-AU 2 240215234 240215234 single base substitution G A intron_variant PACA-AU 2 240216168 240216168 single base substitution C A intron_variant PACA-AU 2 240225543 240225543 single base substitution C T intron_variant PACA-AU 2 240225661 240225661 single base substitution T A intron_variant PACA-AU 2 240234446 240234446 single base substitution C A intron_variant PACA-AU 2 240234446 240234446 single base substitution C A upstream_gene_variant PACA-AU 2 240239803 240239803 single base substitution T C intron_variant PACA-AU 2 240245282 240245282 single base substitution G T intron_variant PACA-AU 2 240247169 240247169 deletion of <=200bp A - intron_variant PACA-AU 2 240249900 240249900 single base substitution G A intron_variant PACA-AU 2 240255170 240255170 single base substitution C T intron_variant PACA-AU 2 240264275 240264275 single base substitution G A intron_variant PACA-AU 2 240266681 240266681 single base substitution G A intron_variant PACA-AU 2 240268014 240268014 single base substitution G C intron_variant PACA-AU 2 240272494 240272494 single base substitution G A intron_variant PACA-AU 2 240273982 240273982 single base substitution G A intron_variant PACA-AU 2 240274306 240274306 single base substitution C T intron_variant PACA-AU 2 240277995 240277995 deletion of <=200bp C - intron_variant PACA-AU 2 240278946 240278946 single base substitution G T intron_variant PACA-AU 2 240282626 240282626 single base substitution G C intron_variant PACA-AU 2 240285388 240285388 single base substitution A T intron_variant PACA-AU 2 240291994 240291994 single base substitution A C intron_variant PACA-AU 2 240298184 240298184 single base substitution C T intron_variant PACA-AU 2 240301248 240301248 single base substitution G C intron_variant PACA-AU 2 240305819 240305819 single base substitution A G intron_variant PACA-AU 2 240311130 240311130 single base substitution G A intron_variant PACA-AU 2 240322746 240322746 single base substitution G A intron_variant PACA-AU 2 240322746 240322746 single base substitution G A upstream_gene_variant PACA-AU 2 240323311 240323311 single base substitution G C exon_variant PACA-AU 2 240323311 240323311 single base substitution G C upstream_gene_variant PACA-AU 2 240323996 240323996 single base substitution G T upstream_gene_variant PACA-CA 2 239965287 239965287 single base substitution C T downstream_gene_variant PACA-CA 2 239967394 239967394 single base substitution G C downstream_gene_variant PACA-CA 2 239968037 239968037 single base substitution G A downstream_gene_variant PACA-CA 2 239970153 239970153 single base substitution G A 3_prime_UTR_variant PACA-CA 2 239970153 239970153 single base substitution G A downstream_gene_variant PACA-CA 2 239970186 239970186 single base substitution T A 3_prime_UTR_variant PACA-CA 2 239970186 239970186 single base substitution T A downstream_gene_variant PACA-CA 2 239974717 239974717 single base substitution G A 3_prime_UTR_variant PACA-CA 2 239974717 239974717 single base substitution G A downstream_gene_variant PACA-CA 2 239977207 239977207 single base substitution G A intron_variant PACA-CA 2 239978547 239978547 single base substitution G A intron_variant PACA-CA 2 239986182 239986182 single base substitution G A intron_variant PACA-CA 2 239988116 239988116 single base substitution T C intron_variant PACA-CA 2 239991101 239991101 single base substitution T G intron_variant PACA-CA 2 239991101 239991101 single base substitution T G upstream_gene_variant PACA-CA 2 239995381 239995381 single base substitution C T intron_variant PACA-CA 2 240000588 240000588 single base substitution G A downstream_gene_variant PACA-CA 2 240000588 240000588 single base substitution G A intron_variant PACA-CA 2 240003248 240003248 single base substitution G A intron_variant PACA-CA 2 240003248 240003248 single base substitution G A upstream_gene_variant PACA-CA 2 240005365 240005365 single base substitution T A intron_variant PACA-CA 2 240005365 240005365 single base substitution T A upstream_gene_variant PACA-CA 2 240005408 240005408 single base substitution C T intron_variant PACA-CA 2 240005408 240005408 single base substitution C T upstream_gene_variant PACA-CA 2 240009121 240009121 single base substitution G A downstream_gene_variant PACA-CA 2 240009121 240009121 single base substitution G A intron_variant PACA-CA 2 240011898 240011898 single base substitution G A downstream_gene_variant PACA-CA 2 240011898 240011898 single base substitution G A intron_variant PACA-CA 2 240013531 240013531 single base substitution C T downstream_gene_variant PACA-CA 2 240013531 240013531 single base substitution C T exon_variant PACA-CA 2 240013531 240013531 single base substitution C T intron_variant PACA-CA 2 240016144 240016144 single base substitution C T downstream_gene_variant PACA-CA 2 240016144 240016144 single base substitution C T intron_variant PACA-CA 2 240020505 240020505 single base substitution G A downstream_gene_variant PACA-CA 2 240020505 240020505 single base substitution G A intron_variant PACA-CA 2 240020661 240020661 single base substitution C T downstream_gene_variant PACA-CA 2 240020661 240020661 single base substitution C T intron_variant PACA-CA 2 240023694 240023694 single base substitution G A downstream_gene_variant PACA-CA 2 240023694 240023694 single base substitution G A intron_variant PACA-CA 2 240024580 240024580 single base substitution G A exon_variant PACA-CA 2 240024580 240024580 single base substitution G A missense_variant R288C 862C>T PACA-CA 2 240024580 240024580 single base substitution G A missense_variant R678C 2032C>T PACA-CA 2 240024580 240024580 single base substitution G A missense_variant R704C 2110C>T PACA-CA 2 240024580 240024580 single base substitution G A upstream_gene_variant PACA-CA 2 240025096 240025096 single base substitution C G intron_variant PACA-CA 2 240025096 240025096 single base substitution C G upstream_gene_variant PACA-CA 2 240025639 240025639 single base substitution G C intron_variant PACA-CA 2 240025639 240025639 single base substitution G C upstream_gene_variant PACA-CA 2 240027873 240027891 deletion of <=200bp GAGGGCGGGCGGAGGAGCT - intron_variant PACA-CA 2 240027873 240027891 deletion of <=200bp GAGGGCGGGCGGAGGAGCT - upstream_gene_variant PACA-CA 2 240028326 240028326 deletion of <=200bp T - intron_variant PACA-CA 2 240028326 240028326 deletion of <=200bp T - upstream_gene_variant PACA-CA 2 240038277 240038277 single base substitution C T intron_variant PACA-CA 2 240039555 240039555 single base substitution G A intron_variant PACA-CA 2 240041046 240041046 single base substitution C T intron_variant PACA-CA 2 240042664 240042664 single base substitution A T intron_variant PACA-CA 2 240045762 240045762 single base substitution G A downstream_gene_variant PACA-CA 2 240045762 240045762 single base substitution G A intron_variant PACA-CA 2 240047829 240047829 single base substitution G T downstream_gene_variant PACA-CA 2 240047829 240047829 single base substitution G T intron_variant PACA-CA 2 240048465 240048465 single base substitution G A intron_variant PACA-CA 2 240049324 240049324 single base substitution C T intron_variant PACA-CA 2 240050438 240050438 single base substitution G T intron_variant PACA-CA 2 240052702 240052702 single base substitution C T downstream_gene_variant PACA-CA 2 240052702 240052702 single base substitution C T intron_variant PACA-CA 2 240054029 240054029 single base substitution C G downstream_gene_variant PACA-CA 2 240054029 240054029 single base substitution C G intron_variant PACA-CA 2 240054956 240054956 single base substitution C T downstream_gene_variant PACA-CA 2 240054956 240054956 single base substitution C T intron_variant PACA-CA 2 240055312 240055312 single base substitution G A downstream_gene_variant PACA-CA 2 240055312 240055312 single base substitution G A intron_variant PACA-CA 2 240059931 240059931 single base substitution C T intron_variant PACA-CA 2 240059936 240059936 single base substitution T C intron_variant PACA-CA 2 240064433 240064433 single base substitution A C intron_variant PACA-CA 2 240064433 240064433 single base substitution A C upstream_gene_variant PACA-CA 2 240065292 240065292 single base substitution G A intron_variant PACA-CA 2 240065292 240065292 single base substitution G A upstream_gene_variant PACA-CA 2 240070013 240070013 single base substitution T C intron_variant PACA-CA 2 240070598 240070598 single base substitution T C intron_variant PACA-CA 2 240071771 240071771 single base substitution G A intron_variant PACA-CA 2 240072264 240072264 single base substitution A G intron_variant PACA-CA 2 240077903 240077903 single base substitution T A intron_variant PACA-CA 2 240077903 240077903 single base substitution T A upstream_gene_variant PACA-CA 2 240078480 240078480 single base substitution G A intron_variant PACA-CA 2 240078480 240078480 single base substitution G A upstream_gene_variant PACA-CA 2 240078644 240078644 single base substitution A T intron_variant PACA-CA 2 240078644 240078644 single base substitution A T upstream_gene_variant PACA-CA 2 240080698 240080698 single base substitution C A downstream_gene_variant PACA-CA 2 240080698 240080698 single base substitution C A intron_variant PACA-CA 2 240080698 240080698 single base substitution C A upstream_gene_variant PACA-CA 2 240084611 240084611 single base substitution C T downstream_gene_variant PACA-CA 2 240084611 240084611 single base substitution C T intron_variant PACA-CA 2 240084709 240084709 single base substitution C T downstream_gene_variant PACA-CA 2 240084709 240084709 single base substitution C T intron_variant PACA-CA 2 240085320 240085320 single base substitution C T downstream_gene_variant PACA-CA 2 240085320 240085320 single base substitution C T intron_variant PACA-CA 2 240085952 240085952 single base substitution G A intron_variant PACA-CA 2 240092100 240092100 single base substitution C G intron_variant PACA-CA 2 240094657 240094657 single base substitution G T downstream_gene_variant PACA-CA 2 240094657 240094657 single base substitution G T intron_variant PACA-CA 2 240094664 240094664 single base substitution A G downstream_gene_variant PACA-CA 2 240094664 240094664 single base substitution A G intron_variant PACA-CA 2 240098312 240098312 single base substitution C G intron_variant PACA-CA 2 240102359 240102359 single base substitution C T intron_variant PACA-CA 2 240104879 240104879 single base substitution A C downstream_gene_variant PACA-CA 2 240104879 240104879 single base substitution A C intron_variant PACA-CA 2 240105709 240105709 single base substitution C T downstream_gene_variant PACA-CA 2 240105709 240105709 single base substitution C T intron_variant PACA-CA 2 240105716 240105717 deletion of <=200bp AC - downstream_gene_variant PACA-CA 2 240105716 240105717 deletion of <=200bp AC - intron_variant PACA-CA 2 240106280 240106280 single base substitution C T downstream_gene_variant PACA-CA 2 240106280 240106280 single base substitution C T intron_variant PACA-CA 2 240112176 240112176 single base substitution C T intron_variant PACA-CA 2 240113940 240113940 single base substitution A G intron_variant PACA-CA 2 240113940 240113940 single base substitution A G upstream_gene_variant PACA-CA 2 240113946 240113946 single base substitution A G intron_variant PACA-CA 2 240113946 240113946 single base substitution A G upstream_gene_variant PACA-CA 2 240115169 240115169 single base substitution G A intron_variant PACA-CA 2 240115169 240115169 single base substitution G A upstream_gene_variant PACA-CA 2 240115680 240115680 single base substitution C T intron_variant PACA-CA 2 240115680 240115680 single base substitution C T upstream_gene_variant PACA-CA 2 240116155 240116155 single base substitution T C intron_variant PACA-CA 2 240116155 240116155 single base substitution T C upstream_gene_variant PACA-CA 2 240117438 240117438 single base substitution T A intron_variant PACA-CA 2 240117438 240117438 single base substitution T A upstream_gene_variant PACA-CA 2 240120098 240120098 single base substitution G A intron_variant PACA-CA 2 240120538 240120538 single base substitution G A intron_variant PACA-CA 2 240122095 240122095 single base substitution C T intron_variant PACA-CA 2 240123589 240123589 single base substitution G A intron_variant PACA-CA 2 240124809 240124809 single base substitution C T intron_variant PACA-CA 2 240125056 240125056 deletion of <=200bp A - intron_variant PACA-CA 2 240125976 240125976 single base substitution C T intron_variant PACA-CA 2 240126541 240126541 single base substitution T C intron_variant PACA-CA 2 240126711 240126711 single base substitution C T intron_variant PACA-CA 2 240127808 240127808 single base substitution G C intron_variant PACA-CA 2 240128877 240128877 single base substitution A G intron_variant PACA-CA 2 240128883 240128883 single base substitution G A intron_variant PACA-CA 2 240131697 240131697 single base substitution A G intron_variant PACA-CA 2 240135656 240135656 single base substitution C T intron_variant PACA-CA 2 240136929 240136929 single base substitution G C intron_variant PACA-CA 2 240137958 240137958 single base substitution C T intron_variant PACA-CA 2 240139572 240139572 single base substitution G A intron_variant PACA-CA 2 240142783 240142783 single base substitution G A intron_variant PACA-CA 2 240144416 240144416 single base substitution A G intron_variant PACA-CA 2 240149337 240149337 single base substitution C T intron_variant PACA-CA 2 240150640 240150640 single base substitution C G intron_variant PACA-CA 2 240151565 240151565 single base substitution T C intron_variant PACA-CA 2 240158291 240158291 single base substitution G A downstream_gene_variant PACA-CA 2 240158291 240158291 single base substitution G A missense_variant T31M 92C>T PACA-CA 2 240158291 240158291 single base substitution G A missense_variant T4M 11C>T PACA-CA 2 240158291 240158291 single base substitution G A splice_region_variant PACA-CA 2 240159111 240159111 single base substitution G A intron_variant PACA-CA 2 240159111 240159111 single base substitution G A upstream_gene_variant PACA-CA 2 240167327 240167327 single base substitution G A intron_variant PACA-CA 2 240169008 240169008 single base substitution G A intron_variant PACA-CA 2 240172047 240172047 single base substitution C A intron_variant PACA-CA 2 240173046 240173046 single base substitution T G intron_variant PACA-CA 2 240173736 240173736 single base substitution C T intron_variant PACA-CA 2 240175761 240175761 single base substitution G C intron_variant PACA-CA 2 240179088 240179088 insertion of <=200bp - G intron_variant PACA-CA 2 240179352 240179352 single base substitution T A intron_variant PACA-CA 2 240184122 240184122 single base substitution G T intron_variant PACA-CA 2 240184842 240184842 single base substitution C A intron_variant PACA-CA 2 240185807 240185807 single base substitution C T intron_variant PACA-CA 2 240191915 240191915 single base substitution C A intron_variant PACA-CA 2 240193976 240193976 single base substitution C A intron_variant PACA-CA 2 240194684 240194684 single base substitution C A intron_variant PACA-CA 2 240195305 240195305 single base substitution T A intron_variant PACA-CA 2 240196383 240196383 single base substitution G A intron_variant PACA-CA 2 240197084 240197084 single base substitution G C intron_variant PACA-CA 2 240198107 240198107 single base substitution G A intron_variant PACA-CA 2 240201857 240201857 single base substitution C T intron_variant PACA-CA 2 240203285 240203285 single base substitution C T intron_variant PACA-CA 2 240203877 240203877 single base substitution C A intron_variant PACA-CA 2 240204687 240204687 single base substitution T C intron_variant PACA-CA 2 240206853 240206853 single base substitution A C intron_variant PACA-CA 2 240208499 240208499 single base substitution G A intron_variant PACA-CA 2 240208549 240208549 single base substitution A G intron_variant PACA-CA 2 240208964 240208964 single base substitution C T intron_variant PACA-CA 2 240214435 240214435 insertion of <=200bp - G intron_variant PACA-CA 2 240218919 240218919 single base substitution C T intron_variant PACA-CA 2 240219460 240219460 single base substitution C A intron_variant PACA-CA 2 240221860 240221860 single base substitution G A intron_variant PACA-CA 2 240221860 240221860 single base substitution G A upstream_gene_variant PACA-CA 2 240226656 240226656 single base substitution C A intron_variant PACA-CA 2 240229670 240229670 insertion of <=200bp - C intron_variant PACA-CA 2 240230515 240230515 single base substitution A G intron_variant PACA-CA 2 240232087 240232087 insertion of <=200bp - C intron_variant PACA-CA 2 240232087 240232087 insertion of <=200bp - C upstream_gene_variant PACA-CA 2 240232877 240232877 single base substitution C T intron_variant PACA-CA 2 240232877 240232877 single base substitution C T upstream_gene_variant PACA-CA 2 240234115 240234115 single base substitution C A intron_variant PACA-CA 2 240234115 240234115 single base substitution C A upstream_gene_variant PACA-CA 2 240234557 240234557 deletion of <=200bp C - intron_variant PACA-CA 2 240234557 240234557 deletion of <=200bp C - upstream_gene_variant PACA-CA 2 240235630 240235630 single base substitution G A intron_variant PACA-CA 2 240235630 240235630 single base substitution G A upstream_gene_variant PACA-CA 2 240237071 240237071 single base substitution C G intron_variant PACA-CA 2 240237566 240237566 insertion of <=200bp - A intron_variant PACA-CA 2 240244008 240244008 single base substitution C A intron_variant PACA-CA 2 240248953 240248953 single base substitution C T intron_variant PACA-CA 2 240249602 240249602 single base substitution A G intron_variant PACA-CA 2 240251088 240251088 single base substitution C A intron_variant PACA-CA 2 240252492 240252492 single base substitution A C intron_variant PACA-CA 2 240254961 240254961 insertion of <=200bp - A intron_variant PACA-CA 2 240255123 240255123 single base substitution C G intron_variant PACA-CA 2 240255989 240255989 single base substitution C T intron_variant PACA-CA 2 240256193 240256193 single base substitution G A intron_variant PACA-CA 2 240261422 240261422 single base substitution A G intron_variant PACA-CA 2 240261423 240261423 single base substitution G A intron_variant PACA-CA 2 240263533 240263533 single base substitution G A intron_variant PACA-CA 2 240266254 240266254 single base substitution A G intron_variant PACA-CA 2 240267013 240267013 single base substitution G C intron_variant PACA-CA 2 240267695 240267695 single base substitution G A intron_variant PACA-CA 2 240270615 240270615 single base substitution G A intron_variant PACA-CA 2 240273761 240273761 single base substitution A C intron_variant PACA-CA 2 240275933 240275933 single base substitution C T intron_variant PACA-CA 2 240276587 240276587 insertion of <=200bp - A intron_variant PACA-CA 2 240276888 240276890 deletion of <=200bp TCT - intron_variant PACA-CA 2 240280492 240280492 single base substitution C T intron_variant PACA-CA 2 240283894 240283894 single base substitution T A intron_variant PACA-CA 2 240286960 240286960 single base substitution T C intron_variant PACA-CA 2 240288534 240288534 single base substitution G A intron_variant PACA-CA 2 240294284 240294284 single base substitution C T intron_variant PACA-CA 2 240295786 240295786 single base substitution G A intron_variant PACA-CA 2 240297771 240297771 single base substitution G C intron_variant PACA-CA 2 240300383 240300383 single base substitution G A intron_variant PACA-CA 2 240302191 240302191 single base substitution G C intron_variant PACA-CA 2 240302287 240302287 single base substitution G C intron_variant PACA-CA 2 240304771 240304771 single base substitution G A intron_variant PACA-CA 2 240305295 240305295 single base substitution T C intron_variant PACA-CA 2 240307877 240307877 single base substitution C T intron_variant PACA-CA 2 240308152 240308152 single base substitution G C intron_variant PACA-CA 2 240308364 240308364 single base substitution G A intron_variant PACA-CA 2 240310207 240310207 single base substitution C T intron_variant PACA-CA 2 240310282 240310282 single base substitution G A intron_variant PACA-CA 2 240318754 240318754 single base substitution G A intron_variant PACA-CA 2 240320255 240320255 single base substitution A G intron_variant PACA-CA 2 240323602 240323602 single base substitution C T upstream_gene_variant PACA-CA 2 240324938 240324938 single base substitution G C upstream_gene_variant PACA-CA 2 240328322 240328322 single base substitution A C upstream_gene_variant PAEN-AU 2 239982109 239982109 single base substitution G T intron_variant PAEN-AU 2 239987012 239987012 single base substitution C A intron_variant PAEN-AU 2 239989308 239989308 single base substitution A G intron_variant PAEN-AU 2 239989308 239989308 single base substitution A G upstream_gene_variant PAEN-AU 2 239993895 239993895 single base substitution T C intron_variant PAEN-AU 2 240018044 240018044 single base substitution A C intron_variant PAEN-AU 2 240077756 240077756 single base substitution C G intron_variant PAEN-AU 2 240077756 240077756 single base substitution C G upstream_gene_variant PAEN-AU 2 240084977 240084977 single base substitution G A downstream_gene_variant PAEN-AU 2 240084977 240084977 single base substitution G A intron_variant PAEN-AU 2 240109430 240109430 single base substitution G C intron_variant PAEN-AU 2 240160358 240160358 single base substitution A G intron_variant PAEN-AU 2 240160358 240160358 single base substitution A G upstream_gene_variant PAEN-AU 2 240207978 240207978 single base substitution A T intron_variant PAEN-AU 2 240217408 240217408 single base substitution A C intron_variant PAEN-AU 2 240259271 240259271 single base substitution G A intron_variant PAEN-AU 2 240287167 240287167 single base substitution A C intron_variant PAEN-AU 2 240294894 240294894 single base substitution A C intron_variant PAEN-AU 2 240322537 240322537 single base substitution A G 5_prime_UTR_variant PAEN-AU 2 240322537 240322537 single base substitution A G intron_variant PAEN-IT 2 239992165 239992165 single base substitution C T intron_variant PAEN-IT 2 239992165 239992165 single base substitution C T upstream_gene_variant PAEN-IT 2 239993575 239993575 single base substitution A G intron_variant PAEN-IT 2 239993575 239993575 single base substitution A G upstream_gene_variant PAEN-IT 2 240012347 240012347 single base substitution A T downstream_gene_variant PAEN-IT 2 240012347 240012347 single base substitution A T intron_variant PAEN-IT 2 240078697 240078697 single base substitution T C intron_variant PAEN-IT 2 240078697 240078697 single base substitution T C upstream_gene_variant PAEN-IT 2 240163078 240163078 single base substitution T A intron_variant PAEN-IT 2 240163078 240163078 single base substitution T A upstream_gene_variant PAEN-IT 2 240172120 240172120 single base substitution G C intron_variant PAEN-IT 2 240172557 240172557 single base substitution G A intron_variant PAEN-IT 2 240178812 240178812 single base substitution C T intron_variant PAEN-IT 2 240197996 240197996 single base substitution C T intron_variant PBCA-DE 2 239967204 239967204 single base substitution C A downstream_gene_variant PBCA-DE 2 239969201 239969201 single base substitution C T downstream_gene_variant PBCA-DE 2 239969934 239969934 single base substitution T C 3_prime_UTR_variant PBCA-DE 2 239969934 239969934 single base substitution T C downstream_gene_variant PBCA-DE 2 239971356 239971356 single base substitution C T 3_prime_UTR_variant PBCA-DE 2 239971356 239971356 single base substitution C T downstream_gene_variant PBCA-DE 2 239983257 239983257 single base substitution G T intron_variant PBCA-DE 2 239995007 239995007 single base substitution G A intron_variant PBCA-DE 2 239995776 239995776 single base substitution A G intron_variant PBCA-DE 2 239996969 239996969 single base substitution T A intron_variant PBCA-DE 2 239997262 239997262 single base substitution G A intron_variant PBCA-DE 2 240011601 240011601 single base substitution C A downstream_gene_variant PBCA-DE 2 240011601 240011601 single base substitution C A exon_variant PBCA-DE 2 240011601 240011601 single base substitution C A intron_variant PBCA-DE 2 240012056 240012056 single base substitution G A downstream_gene_variant PBCA-DE 2 240012056 240012056 single base substitution G A intron_variant PBCA-DE 2 240017788 240017788 single base substitution G A intron_variant PBCA-DE 2 240028439 240028439 insertion of <=200bp - G intron_variant PBCA-DE 2 240028439 240028439 insertion of <=200bp - G upstream_gene_variant PBCA-DE 2 240046333 240046344 deletion of <=200bp CACATCATTCCA - downstream_gene_variant PBCA-DE 2 240046333 240046344 deletion of <=200bp CACATCATTCCA - intron_variant PBCA-DE 2 240046683 240046683 single base substitution G A downstream_gene_variant PBCA-DE 2 240046683 240046683 single base substitution G A intron_variant PBCA-DE 2 240050529 240050529 single base substitution G A intron_variant PBCA-DE 2 240061732 240061732 single base substitution C A intron_variant PBCA-DE 2 240063733 240063733 single base substitution C T intron_variant PBCA-DE 2 240063733 240063733 single base substitution C T upstream_gene_variant PBCA-DE 2 240071031 240071031 single base substitution G A intron_variant PBCA-DE 2 240071032 240071032 single base substitution G A intron_variant PBCA-DE 2 240072755 240072755 single base substitution G T intron_variant PBCA-DE 2 240098302 240098303 deletion of <=200bp CA - intron_variant PBCA-DE 2 240105716 240105717 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 2 240105716 240105717 deletion of <=200bp AC - intron_variant PBCA-DE 2 240113336 240113336 single base substitution G A intron_variant PBCA-DE 2 240113336 240113336 single base substitution G A upstream_gene_variant PBCA-DE 2 240128091 240128092 deletion of <=200bp CA - intron_variant PBCA-DE 2 240128832 240128832 deletion of <=200bp A - intron_variant PBCA-DE 2 240137101 240137101 single base substitution T G intron_variant PBCA-DE 2 240153573 240153573 single base substitution T C downstream_gene_variant PBCA-DE 2 240153573 240153573 single base substitution T C intron_variant PBCA-DE 2 240158760 240158761 deletion of <=200bp AC - intron_variant PBCA-DE 2 240158760 240158761 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 2 240169756 240169756 single base substitution C T intron_variant PBCA-DE 2 240176992 240176993 deletion of <=200bp TG - intron_variant PBCA-DE 2 240196174 240196175 deletion of <=200bp CG - intron_variant PBCA-DE 2 240198723 240198723 single base substitution G T intron_variant PBCA-DE 2 240199725 240199725 single base substitution T C intron_variant PBCA-DE 2 240202645 240202645 insertion of <=200bp - CCAC intron_variant PBCA-DE 2 240202917 240202921 deletion of <=200bp ACACA - intron_variant PBCA-DE 2 240203087 240203087 insertion of <=200bp - TA intron_variant PBCA-DE 2 240203557 240203557 single base substitution C T intron_variant PBCA-DE 2 240204082 240204082 single base substitution C T intron_variant PBCA-DE 2 240212277 240212278 deletion of <=200bp CA - intron_variant PBCA-DE 2 240218104 240218104 single base substitution G T intron_variant PBCA-DE 2 240234393 240234393 single base substitution C G intron_variant PBCA-DE 2 240234393 240234393 single base substitution C G upstream_gene_variant PBCA-DE 2 240240434 240240434 single base substitution T C intron_variant PBCA-DE 2 240258679 240258679 single base substitution G A intron_variant PBCA-DE 2 240263657 240263657 single base substitution C A intron_variant PBCA-DE 2 240283441 240283441 single base substitution C A intron_variant PBCA-DE 2 240288504 240288505 deletion of <=200bp TT - intron_variant PBCA-DE 2 240297009 240297009 single base substitution A C intron_variant PBCA-DE 2 240298974 240298974 single base substitution C A intron_variant PBCA-DE 2 240325496 240325496 single base substitution G T upstream_gene_variant PRAD-CA 2 240006741 240006741 single base substitution C G downstream_gene_variant PRAD-CA 2 240006741 240006741 single base substitution C G intron_variant PRAD-CA 2 240006741 240006741 single base substitution C G upstream_gene_variant PRAD-CA 2 240007186 240007186 single base substitution G C downstream_gene_variant PRAD-CA 2 240007186 240007186 single base substitution G C intron_variant PRAD-CA 2 240007186 240007186 single base substitution G C upstream_gene_variant PRAD-CA 2 240014611 240014611 single base substitution T C downstream_gene_variant PRAD-CA 2 240014611 240014611 single base substitution T C intron_variant PRAD-CA 2 240046249 240046249 single base substitution C T downstream_gene_variant PRAD-CA 2 240046249 240046249 single base substitution C T intron_variant PRAD-CA 2 240052234 240052234 single base substitution C T downstream_gene_variant PRAD-CA 2 240052234 240052234 single base substitution C T intron_variant PRAD-CA 2 240056181 240056181 single base substitution A T intron_variant PRAD-CA 2 240067964 240067964 single base substitution T C intron_variant PRAD-CA 2 240072232 240072232 single base substitution G A intron_variant PRAD-CA 2 240083528 240083528 single base substitution G A downstream_gene_variant PRAD-CA 2 240083528 240083528 single base substitution G A intron_variant PRAD-CA 2 240089584 240089584 single base substitution C A intron_variant PRAD-CA 2 240091025 240091025 single base substitution G T intron_variant PRAD-CA 2 240120203 240120203 single base substitution G A intron_variant PRAD-CA 2 240135017 240135017 single base substitution C A intron_variant PRAD-CA 2 240153678 240153678 single base substitution C T downstream_gene_variant PRAD-CA 2 240153678 240153678 single base substitution C T intron_variant PRAD-CA 2 240169347 240169347 single base substitution G T intron_variant PRAD-CA 2 240177242 240177242 single base substitution T C intron_variant PRAD-CA 2 240203998 240203998 single base substitution A C intron_variant PRAD-CA 2 240223182 240223182 single base substitution A T intron_variant PRAD-CA 2 240223182 240223182 single base substitution A T upstream_gene_variant PRAD-CA 2 240238175 240238175 single base substitution G A intron_variant PRAD-CA 2 240268265 240268265 single base substitution C A intron_variant PRAD-CA 2 240286856 240286856 single base substitution A T intron_variant PRAD-CA 2 240304845 240304845 single base substitution G A intron_variant PRAD-CA 2 240307760 240307760 single base substitution A C intron_variant PRAD-UK 2 239978760 239978760 single base substitution T A intron_variant PRAD-UK 2 239983411 239983411 insertion of <=200bp - ACTTT intron_variant PRAD-UK 2 240005262 240005262 single base substitution C T intron_variant PRAD-UK 2 240005262 240005262 single base substitution C T upstream_gene_variant PRAD-UK 2 240019198 240019198 single base substitution G A intron_variant PRAD-UK 2 240024290 240024290 single base substitution G A downstream_gene_variant PRAD-UK 2 240024290 240024290 single base substitution G A intron_variant PRAD-UK 2 240034092 240034092 single base substitution G A intron_variant PRAD-UK 2 240034092 240034092 single base substitution G A upstream_gene_variant PRAD-UK 2 240059509 240059509 single base substitution C T intron_variant PRAD-UK 2 240069272 240069272 single base substitution C T intron_variant PRAD-UK 2 240074916 240074916 single base substitution G A intron_variant PRAD-UK 2 240080035 240080035 single base substitution T C intron_variant PRAD-UK 2 240080035 240080035 single base substitution T C upstream_gene_variant PRAD-UK 2 240085889 240085889 single base substitution C T intron_variant PRAD-UK 2 240100545 240100545 single base substitution T C intron_variant PRAD-UK 2 240110276 240110276 single base substitution C T intron_variant PRAD-UK 2 240144974 240144985 deletion of <=200bp GAGGGCACCAAG - intron_variant PRAD-UK 2 240145898 240145898 single base substitution G A intron_variant PRAD-UK 2 240155940 240155940 single base substitution C A downstream_gene_variant PRAD-UK 2 240155940 240155940 single base substitution C A intron_variant PRAD-UK 2 240170172 240170172 single base substitution G A intron_variant PRAD-UK 2 240172438 240172438 single base substitution C T intron_variant PRAD-UK 2 240184751 240184751 single base substitution G C intron_variant PRAD-UK 2 240199687 240199687 insertion of <=200bp - CCAGCCACACACCCCAGCCACACACT intron_variant PRAD-UK 2 240202361 240202361 single base substitution C G intron_variant PRAD-UK 2 240203037 240203086 multiple base substitution (>=2bp and <=200bp) GTACACACCACTCTACAATGAACACACCACTCTACACACCATGTACATGC GAACACTCTA intron_variant PRAD-UK 2 240205556 240205556 single base substitution G C intron_variant PRAD-UK 2 240213477 240213477 single base substitution G C intron_variant PRAD-UK 2 240216381 240216381 single base substitution T C intron_variant PRAD-UK 2 240238794 240238794 single base substitution A T intron_variant PRAD-UK 2 240243453 240243453 single base substitution C A intron_variant PRAD-UK 2 240244893 240244893 insertion of <=200bp - A intron_variant PRAD-UK 2 240244900 240244900 insertion of <=200bp - A intron_variant PRAD-UK 2 240248113 240248113 single base substitution C T intron_variant PRAD-UK 2 240253620 240253620 single base substitution G A intron_variant PRAD-UK 2 240275177 240275177 single base substitution G A intron_variant PRAD-UK 2 240284801 240284801 single base substitution C A intron_variant PRAD-UK 2 240286517 240286517 single base substitution G A intron_variant PRAD-UK 2 240291711 240291711 single base substitution C T intron_variant PRAD-UK 2 240291843 240291843 single base substitution C T intron_variant PRAD-UK 2 240292400 240292400 single base substitution G A intron_variant PRAD-UK 2 240305447 240305447 single base substitution C A intron_variant READ-US 2 239975206 239975206 single base substitution C T downstream_gene_variant READ-US 2 239975206 239975206 single base substitution C T synonymous_variant T1055T 3165G>A READ-US 2 239975206 239975206 single base substitution C T synonymous_variant T145T 435G>A READ-US 2 239975206 239975206 single base substitution C T synonymous_variant T639T 1917G>A RECA-EU 2 239968720 239968720 single base substitution C T downstream_gene_variant RECA-EU 2 239980056 239980056 single base substitution T A intron_variant RECA-EU 2 239995922 239995922 single base substitution C T intron_variant RECA-EU 2 240010000 240010000 single base substitution G T downstream_gene_variant RECA-EU 2 240010000 240010000 single base substitution G T intron_variant RECA-EU 2 240010132 240010132 single base substitution G A downstream_gene_variant RECA-EU 2 240010132 240010132 single base substitution G A intron_variant RECA-EU 2 240022198 240022198 single base substitution T C downstream_gene_variant RECA-EU 2 240022198 240022198 single base substitution T C intron_variant RECA-EU 2 240025709 240025709 single base substitution T A intron_variant RECA-EU 2 240025709 240025709 single base substitution T A upstream_gene_variant RECA-EU 2 240044012 240044012 single base substitution T A downstream_gene_variant RECA-EU 2 240044012 240044012 single base substitution T A intron_variant RECA-EU 2 240056968 240056968 single base substitution C A intron_variant RECA-EU 2 240062397 240062397 single base substitution G A intron_variant RECA-EU 2 240066785 240066785 single base substitution C T intron_variant RECA-EU 2 240066785 240066785 single base substitution C T upstream_gene_variant RECA-EU 2 240082970 240082970 single base substitution G C downstream_gene_variant RECA-EU 2 240082970 240082970 single base substitution G C intron_variant RECA-EU 2 240085099 240085099 single base substitution G A downstream_gene_variant RECA-EU 2 240085099 240085099 single base substitution G A intron_variant RECA-EU 2 240090915 240090915 single base substitution T C intron_variant RECA-EU 2 240098036 240098036 single base substitution A G downstream_gene_variant RECA-EU 2 240098036 240098036 single base substitution A G intron_variant RECA-EU 2 240103072 240103072 single base substitution C A intron_variant RECA-EU 2 240107640 240107640 single base substitution G A downstream_gene_variant RECA-EU 2 240107640 240107640 single base substitution G A intron_variant RECA-EU 2 240109369 240109369 single base substitution G C intron_variant RECA-EU 2 240115271 240115271 single base substitution G C intron_variant RECA-EU 2 240115271 240115271 single base substitution G C upstream_gene_variant RECA-EU 2 240118219 240118219 single base substitution G A intron_variant RECA-EU 2 240127409 240127409 single base substitution G C intron_variant RECA-EU 2 240127772 240127772 single base substitution C T intron_variant RECA-EU 2 240139273 240139273 single base substitution C T intron_variant RECA-EU 2 240142004 240142004 single base substitution G A intron_variant RECA-EU 2 240154863 240154863 single base substitution A T downstream_gene_variant RECA-EU 2 240154863 240154863 single base substitution A T intron_variant RECA-EU 2 240178492 240178492 single base substitution G A intron_variant RECA-EU 2 240201067 240201067 single base substitution T A intron_variant RECA-EU 2 240203956 240203956 single base substitution A C intron_variant RECA-EU 2 240203957 240203957 single base substitution C T intron_variant RECA-EU 2 240207549 240207549 single base substitution G C intron_variant RECA-EU 2 240214441 240214441 single base substitution G T intron_variant RECA-EU 2 240226531 240226531 single base substitution A T intron_variant RECA-EU 2 240236525 240236525 single base substitution C T intron_variant RECA-EU 2 240239141 240239141 single base substitution A T intron_variant RECA-EU 2 240246695 240246695 single base substitution C T intron_variant RECA-EU 2 240248010 240248010 single base substitution G C intron_variant RECA-EU 2 240248040 240248040 single base substitution T C intron_variant RECA-EU 2 240249993 240249993 single base substitution T C intron_variant RECA-EU 2 240251472 240251472 single base substitution T A intron_variant RECA-EU 2 240256977 240256977 single base substitution A C intron_variant RECA-EU 2 240263778 240263778 single base substitution G A intron_variant RECA-EU 2 240271361 240271361 single base substitution G A intron_variant RECA-EU 2 240278808 240278808 single base substitution A G intron_variant RECA-EU 2 240286183 240286183 single base substitution A G intron_variant RECA-EU 2 240296707 240296707 single base substitution C T intron_variant RECA-EU 2 240307240 240307240 single base substitution C T intron_variant RECA-EU 2 240308178 240308178 single base substitution G C intron_variant RECA-EU 2 240311493 240311493 single base substitution A G intron_variant RECA-EU 2 240324790 240324790 single base substitution T A upstream_gene_variant SKCA-BR 2 239965488 239965488 single base substitution A T downstream_gene_variant SKCA-BR 2 239966158 239966158 single base substitution G A downstream_gene_variant SKCA-BR 2 239971549 239971549 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 239971549 239971549 single base substitution G A downstream_gene_variant SKCA-BR 2 239972046 239972046 single base substitution T G 3_prime_UTR_variant SKCA-BR 2 239972046 239972046 single base substitution T G downstream_gene_variant SKCA-BR 2 239974081 239974081 single base substitution A C 3_prime_UTR_variant SKCA-BR 2 239974081 239974081 single base substitution A C downstream_gene_variant SKCA-BR 2 239974223 239974223 single base substitution T C 3_prime_UTR_variant SKCA-BR 2 239974223 239974223 single base substitution T C downstream_gene_variant SKCA-BR 2 239974241 239974241 single base substitution A C 3_prime_UTR_variant SKCA-BR 2 239974241 239974241 single base substitution A C downstream_gene_variant SKCA-BR 2 239974281 239974281 single base substitution A C 3_prime_UTR_variant SKCA-BR 2 239974281 239974281 single base substitution A C downstream_gene_variant SKCA-BR 2 239977010 239977010 single base substitution C A exon_variant SKCA-BR 2 239977010 239977010 single base substitution C A intron_variant SKCA-BR 2 239978053 239978053 single base substitution A G intron_variant SKCA-BR 2 239981232 239981232 single base substitution G A intron_variant SKCA-BR 2 239981536 239981536 single base substitution G A intron_variant SKCA-BR 2 239984693 239984693 single base substitution A C intron_variant SKCA-BR 2 239985825 239985825 single base substitution C T intron_variant SKCA-BR 2 239986106 239986106 single base substitution G A intron_variant SKCA-BR 2 239990593 239990593 single base substitution G A intron_variant SKCA-BR 2 239990593 239990593 single base substitution G A upstream_gene_variant SKCA-BR 2 239992932 239992932 single base substitution G A intron_variant SKCA-BR 2 239992932 239992932 single base substitution G A upstream_gene_variant SKCA-BR 2 239996458 239996458 single base substitution C T intron_variant SKCA-BR 2 240003089 240003089 single base substitution A G intron_variant SKCA-BR 2 240003089 240003089 single base substitution A G upstream_gene_variant SKCA-BR 2 240003510 240003510 single base substitution G A intron_variant SKCA-BR 2 240003510 240003510 single base substitution G A upstream_gene_variant SKCA-BR 2 240003846 240003846 single base substitution G A exon_variant SKCA-BR 2 240003846 240003846 single base substitution G A synonymous_variant H447H 1341C>T SKCA-BR 2 240003846 240003846 single base substitution G A synonymous_variant H863H 2589C>T SKCA-BR 2 240003846 240003846 single base substitution G A upstream_gene_variant SKCA-BR 2 240004118 240004118 single base substitution G A intron_variant SKCA-BR 2 240004118 240004118 single base substitution G A upstream_gene_variant SKCA-BR 2 240004270 240004270 single base substitution A C intron_variant SKCA-BR 2 240004270 240004270 single base substitution A C upstream_gene_variant SKCA-BR 2 240005051 240005051 single base substitution G A intron_variant SKCA-BR 2 240005051 240005051 single base substitution G A upstream_gene_variant SKCA-BR 2 240005055 240005055 single base substitution T G intron_variant SKCA-BR 2 240005055 240005055 single base substitution T G upstream_gene_variant SKCA-BR 2 240005189 240005189 single base substitution G A intron_variant SKCA-BR 2 240005189 240005189 single base substitution G A upstream_gene_variant SKCA-BR 2 240006727 240006727 insertion of <=200bp - GAGAC downstream_gene_variant SKCA-BR 2 240006727 240006727 insertion of <=200bp - GAGAC intron_variant SKCA-BR 2 240006727 240006727 insertion of <=200bp - GAGAC upstream_gene_variant SKCA-BR 2 240006737 240006737 insertion of <=200bp - GACAGACAC downstream_gene_variant SKCA-BR 2 240006737 240006737 insertion of <=200bp - GACAGACAC intron_variant SKCA-BR 2 240006737 240006737 insertion of <=200bp - GACAGACAC upstream_gene_variant SKCA-BR 2 240006737 240006739 deletion of <=200bp GAC - downstream_gene_variant SKCA-BR 2 240006737 240006739 deletion of <=200bp GAC - intron_variant SKCA-BR 2 240006737 240006739 deletion of <=200bp GAC - upstream_gene_variant SKCA-BR 2 240006741 240006741 single base substitution C G downstream_gene_variant SKCA-BR 2 240006741 240006741 single base substitution C G intron_variant SKCA-BR 2 240006741 240006741 single base substitution C G upstream_gene_variant SKCA-BR 2 240008017 240008017 single base substitution C T downstream_gene_variant SKCA-BR 2 240008017 240008017 single base substitution C T intron_variant SKCA-BR 2 240008056 240008056 single base substitution T C downstream_gene_variant SKCA-BR 2 240008056 240008056 single base substitution T C intron_variant SKCA-BR 2 240009370 240009370 single base substitution G A downstream_gene_variant SKCA-BR 2 240009370 240009370 single base substitution G A intron_variant SKCA-BR 2 240010691 240010691 single base substitution G A downstream_gene_variant SKCA-BR 2 240010691 240010691 single base substitution G A intron_variant SKCA-BR 2 240011503 240011503 single base substitution C T downstream_gene_variant SKCA-BR 2 240011503 240011503 single base substitution C T exon_variant SKCA-BR 2 240011503 240011503 single base substitution C T intron_variant SKCA-BR 2 240012346 240012346 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 2 240012346 240012346 insertion of <=200bp - GA intron_variant SKCA-BR 2 240013066 240013066 single base substitution G A downstream_gene_variant SKCA-BR 2 240013066 240013066 single base substitution G A exon_variant SKCA-BR 2 240013066 240013066 single base substitution G A intron_variant SKCA-BR 2 240013600 240013601 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 2 240013600 240013601 deletion of <=200bp CA - intron_variant SKCA-BR 2 240014630 240014630 single base substitution G A downstream_gene_variant SKCA-BR 2 240014630 240014630 single base substitution G A intron_variant SKCA-BR 2 240016012 240016012 single base substitution C T downstream_gene_variant SKCA-BR 2 240016012 240016012 single base substitution C T intron_variant SKCA-BR 2 240018687 240018687 single base substitution G A intron_variant SKCA-BR 2 240018847 240018847 single base substitution G A intron_variant SKCA-BR 2 240018848 240018848 single base substitution G A intron_variant SKCA-BR 2 240019335 240019335 single base substitution G A downstream_gene_variant SKCA-BR 2 240019335 240019335 single base substitution G A intron_variant SKCA-BR 2 240019952 240019952 single base substitution A T downstream_gene_variant SKCA-BR 2 240019952 240019952 single base substitution A T intron_variant SKCA-BR 2 240020717 240020717 single base substitution T G downstream_gene_variant SKCA-BR 2 240020717 240020717 single base substitution T G intron_variant SKCA-BR 2 240023828 240023828 single base substitution C T downstream_gene_variant SKCA-BR 2 240023828 240023828 single base substitution C T intron_variant SKCA-BR 2 240023924 240023924 single base substitution A C downstream_gene_variant SKCA-BR 2 240023924 240023924 single base substitution A C intron_variant SKCA-BR 2 240025393 240025393 single base substitution A C intron_variant SKCA-BR 2 240025393 240025393 single base substitution A C upstream_gene_variant SKCA-BR 2 240026429 240026429 single base substitution T G intron_variant SKCA-BR 2 240026429 240026429 single base substitution T G upstream_gene_variant SKCA-BR 2 240032657 240032657 single base substitution G A intron_variant SKCA-BR 2 240032657 240032657 single base substitution G A upstream_gene_variant SKCA-BR 2 240033477 240033477 single base substitution T G intron_variant SKCA-BR 2 240033477 240033477 single base substitution T G upstream_gene_variant SKCA-BR 2 240038404 240038404 single base substitution C T intron_variant SKCA-BR 2 240042132 240042136 deletion of <=200bp TAGAC - intron_variant SKCA-BR 2 240042696 240042698 deletion of <=200bp CTT - intron_variant SKCA-BR 2 240043043 240043043 single base substitution T G intron_variant SKCA-BR 2 240043064 240043064 single base substitution T G intron_variant SKCA-BR 2 240043326 240043326 single base substitution G C intron_variant SKCA-BR 2 240046369 240046369 single base substitution G A downstream_gene_variant SKCA-BR 2 240046369 240046369 single base substitution G A intron_variant SKCA-BR 2 240046381 240046381 single base substitution C T downstream_gene_variant SKCA-BR 2 240046381 240046381 single base substitution C T intron_variant SKCA-BR 2 240046398 240046398 single base substitution T C downstream_gene_variant SKCA-BR 2 240046398 240046398 single base substitution T C intron_variant SKCA-BR 2 240046428 240046428 single base substitution T C downstream_gene_variant SKCA-BR 2 240046428 240046428 single base substitution T C intron_variant SKCA-BR 2 240046433 240046433 single base substitution G A downstream_gene_variant SKCA-BR 2 240046433 240046433 single base substitution G A intron_variant SKCA-BR 2 240046457 240046457 single base substitution G A downstream_gene_variant SKCA-BR 2 240046457 240046457 single base substitution G A intron_variant SKCA-BR 2 240046461 240046461 single base substitution C T downstream_gene_variant SKCA-BR 2 240046461 240046461 single base substitution C T intron_variant SKCA-BR 2 240046481 240046481 single base substitution T C downstream_gene_variant SKCA-BR 2 240046481 240046481 single base substitution T C intron_variant SKCA-BR 2 240046486 240046486 single base substitution G A downstream_gene_variant SKCA-BR 2 240046486 240046486 single base substitution G A intron_variant SKCA-BR 2 240046503 240046520 deletion of <=200bp ACGTTATGTGACATTCCG - downstream_gene_variant SKCA-BR 2 240046503 240046520 deletion of <=200bp ACGTTATGTGACATTCCG - intron_variant SKCA-BR 2 240046522 240046522 single base substitution T A downstream_gene_variant SKCA-BR 2 240046522 240046522 single base substitution T A intron_variant SKCA-BR 2 240046541 240046541 single base substitution G A downstream_gene_variant SKCA-BR 2 240046541 240046541 single base substitution G A intron_variant SKCA-BR 2 240046616 240046616 single base substitution T C downstream_gene_variant SKCA-BR 2 240046616 240046616 single base substitution T C intron_variant SKCA-BR 2 240046699 240046699 single base substitution T C downstream_gene_variant SKCA-BR 2 240046699 240046699 single base substitution T C intron_variant SKCA-BR 2 240048429 240048429 single base substitution G A intron_variant SKCA-BR 2 240048505 240048505 single base substitution G A intron_variant SKCA-BR 2 240048911 240048911 single base substitution T G intron_variant SKCA-BR 2 240050599 240050599 single base substitution G A intron_variant SKCA-BR 2 240054754 240054754 single base substitution G A downstream_gene_variant SKCA-BR 2 240054754 240054754 single base substitution G A intron_variant SKCA-BR 2 240059476 240059476 single base substitution G A intron_variant SKCA-BR 2 240060348 240060348 single base substitution A G intron_variant SKCA-BR 2 240062965 240062965 single base substitution A C intron_variant SKCA-BR 2 240062965 240062965 single base substitution A C upstream_gene_variant SKCA-BR 2 240063007 240063007 single base substitution A C intron_variant SKCA-BR 2 240063007 240063007 single base substitution A C upstream_gene_variant SKCA-BR 2 240064236 240064236 single base substitution G T intron_variant SKCA-BR 2 240064236 240064236 single base substitution G T upstream_gene_variant SKCA-BR 2 240064956 240064956 insertion of <=200bp - TA intron_variant SKCA-BR 2 240064956 240064956 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 2 240065661 240065661 single base substitution G A intron_variant SKCA-BR 2 240065661 240065661 single base substitution G A upstream_gene_variant SKCA-BR 2 240066226 240066226 single base substitution G A intron_variant SKCA-BR 2 240066226 240066226 single base substitution G A upstream_gene_variant SKCA-BR 2 240071069 240071069 insertion of <=200bp - AAAAT intron_variant SKCA-BR 2 240071723 240071723 single base substitution A G intron_variant SKCA-BR 2 240072422 240072422 single base substitution G A intron_variant SKCA-BR 2 240088108 240088108 single base substitution C T intron_variant SKCA-BR 2 240089124 240089124 single base substitution G T intron_variant SKCA-BR 2 240089674 240089674 single base substitution A G intron_variant SKCA-BR 2 240090334 240090334 single base substitution T C intron_variant SKCA-BR 2 240091503 240091503 single base substitution C T intron_variant SKCA-BR 2 240093459 240093459 single base substitution G A downstream_gene_variant SKCA-BR 2 240093459 240093459 single base substitution G A intron_variant SKCA-BR 2 240093989 240093993 deletion of <=200bp AATAT - downstream_gene_variant SKCA-BR 2 240093989 240093993 deletion of <=200bp AATAT - intron_variant SKCA-BR 2 240093990 240093993 deletion of <=200bp ATAT - downstream_gene_variant SKCA-BR 2 240093990 240093993 deletion of <=200bp ATAT - intron_variant SKCA-BR 2 240093995 240093995 single base substitution T A downstream_gene_variant SKCA-BR 2 240093995 240093995 single base substitution T A intron_variant SKCA-BR 2 240096099 240096100 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 2 240096099 240096100 deletion of <=200bp CA - intron_variant SKCA-BR 2 240100263 240100263 single base substitution T C intron_variant SKCA-BR 2 240100302 240100302 single base substitution A C intron_variant SKCA-BR 2 240103110 240103110 single base substitution G A intron_variant SKCA-BR 2 240104751 240104751 single base substitution G T downstream_gene_variant SKCA-BR 2 240104751 240104751 single base substitution G T intron_variant SKCA-BR 2 240106451 240106451 single base substitution T G downstream_gene_variant SKCA-BR 2 240106451 240106451 single base substitution T G intron_variant SKCA-BR 2 240106535 240106535 single base substitution T G downstream_gene_variant SKCA-BR 2 240106535 240106535 single base substitution T G intron_variant SKCA-BR 2 240108025 240108025 single base substitution T A downstream_gene_variant SKCA-BR 2 240108025 240108025 single base substitution T A intron_variant SKCA-BR 2 240112006 240112006 single base substitution G C intron_variant SKCA-BR 2 240112329 240112329 single base substitution G A intron_variant SKCA-BR 2 240116526 240116526 single base substitution T C intron_variant SKCA-BR 2 240116526 240116526 single base substitution T C upstream_gene_variant SKCA-BR 2 240122096 240122096 single base substitution G A intron_variant SKCA-BR 2 240127160 240127160 single base substitution G A intron_variant SKCA-BR 2 240127798 240127798 single base substitution T G intron_variant SKCA-BR 2 240128639 240128642 deletion of <=200bp TTGA - intron_variant SKCA-BR 2 240133767 240133767 single base substitution T C intron_variant SKCA-BR 2 240134225 240134225 single base substitution G A intron_variant SKCA-BR 2 240134266 240134266 single base substitution C T intron_variant SKCA-BR 2 240137535 240137535 single base substitution C A intron_variant SKCA-BR 2 240138895 240138895 single base substitution T G intron_variant SKCA-BR 2 240142864 240142864 single base substitution T C intron_variant SKCA-BR 2 240144568 240144568 single base substitution G A intron_variant SKCA-BR 2 240145834 240145834 single base substitution A C intron_variant SKCA-BR 2 240146626 240146626 single base substitution T A intron_variant SKCA-BR 2 240146785 240146785 single base substitution G A intron_variant SKCA-BR 2 240148937 240148937 single base substitution G C intron_variant SKCA-BR 2 240150260 240150260 single base substitution G A intron_variant SKCA-BR 2 240153608 240153608 single base substitution T C downstream_gene_variant SKCA-BR 2 240153608 240153608 single base substitution T C intron_variant SKCA-BR 2 240154623 240154623 single base substitution G C downstream_gene_variant SKCA-BR 2 240154623 240154623 single base substitution G C intron_variant SKCA-BR 2 240159566 240159566 single base substitution C T intron_variant SKCA-BR 2 240159566 240159566 single base substitution C T upstream_gene_variant SKCA-BR 2 240165147 240165147 single base substitution T C intron_variant SKCA-BR 2 240165838 240165838 single base substitution C T intron_variant SKCA-BR 2 240165839 240165839 single base substitution C T intron_variant SKCA-BR 2 240167316 240167316 single base substitution G A intron_variant SKCA-BR 2 240171936 240171936 single base substitution A G intron_variant SKCA-BR 2 240176435 240176436 deletion of <=200bp GA - intron_variant SKCA-BR 2 240176469 240176469 single base substitution C T intron_variant SKCA-BR 2 240177503 240177503 single base substitution G A intron_variant SKCA-BR 2 240177552 240177552 single base substitution T A intron_variant SKCA-BR 2 240182762 240182762 single base substitution C T intron_variant SKCA-BR 2 240190957 240190975 deletion of <=200bp CCACACATTCACACACCCA - intron_variant SKCA-BR 2 240196401 240196401 single base substitution A C intron_variant SKCA-BR 2 240198097 240198097 single base substitution G T intron_variant SKCA-BR 2 240200769 240200769 single base substitution A G intron_variant SKCA-BR 2 240200821 240200821 single base substitution T C intron_variant SKCA-BR 2 240201769 240201769 single base substitution C T intron_variant SKCA-BR 2 240202651 240202651 single base substitution T A intron_variant SKCA-BR 2 240203909 240203909 insertion of <=200bp - CCA intron_variant SKCA-BR 2 240207872 240207872 single base substitution A T intron_variant SKCA-BR 2 240209995 240209995 single base substitution A G intron_variant SKCA-BR 2 240211399 240211399 single base substitution G A intron_variant SKCA-BR 2 240215984 240215984 insertion of <=200bp - GTCCC intron_variant SKCA-BR 2 240216376 240216376 single base substitution G A intron_variant SKCA-BR 2 240219779 240219779 single base substitution T C intron_variant SKCA-BR 2 240221218 240221226 deletion of <=200bp GCTGTACAA - intron_variant SKCA-BR 2 240221218 240221226 deletion of <=200bp GCTGTACAA - upstream_gene_variant SKCA-BR 2 240222167 240222167 single base substitution G A intron_variant SKCA-BR 2 240222167 240222167 single base substitution G A upstream_gene_variant SKCA-BR 2 240222997 240222997 single base substitution A C intron_variant SKCA-BR 2 240222997 240222997 single base substitution A C upstream_gene_variant SKCA-BR 2 240224082 240224082 single base substitution G A intron_variant SKCA-BR 2 240224082 240224082 single base substitution G A upstream_gene_variant SKCA-BR 2 240228163 240228163 single base substitution G A intron_variant SKCA-BR 2 240228673 240228673 single base substitution G A intron_variant SKCA-BR 2 240229156 240229156 single base substitution G A intron_variant SKCA-BR 2 240233886 240233886 single base substitution T C intron_variant SKCA-BR 2 240233886 240233886 single base substitution T C upstream_gene_variant SKCA-BR 2 240238638 240238638 single base substitution G A intron_variant SKCA-BR 2 240240024 240240024 single base substitution G A intron_variant SKCA-BR 2 240240381 240240381 insertion of <=200bp - GA intron_variant SKCA-BR 2 240242499 240242499 single base substitution G A intron_variant SKCA-BR 2 240245979 240245979 single base substitution G A intron_variant SKCA-BR 2 240247328 240247328 single base substitution G A intron_variant SKCA-BR 2 240247700 240247700 single base substitution A G intron_variant SKCA-BR 2 240248511 240248511 single base substitution G A intron_variant SKCA-BR 2 240258775 240258775 single base substitution G A intron_variant SKCA-BR 2 240259058 240259058 single base substitution A G intron_variant SKCA-BR 2 240260381 240260381 single base substitution G A intron_variant SKCA-BR 2 240261126 240261126 single base substitution G A intron_variant SKCA-BR 2 240262815 240262815 single base substitution G A intron_variant SKCA-BR 2 240262917 240262917 single base substitution G A intron_variant SKCA-BR 2 240263921 240263922 deletion of <=200bp TA - intron_variant SKCA-BR 2 240266511 240266511 single base substitution G A intron_variant SKCA-BR 2 240268265 240268265 single base substitution C A intron_variant SKCA-BR 2 240268765 240268765 insertion of <=200bp - AAC intron_variant SKCA-BR 2 240275570 240275570 single base substitution T C intron_variant SKCA-BR 2 240279148 240279148 insertion of <=200bp - GA intron_variant SKCA-BR 2 240279258 240279258 single base substitution G A intron_variant SKCA-BR 2 240282554 240282554 single base substitution C T intron_variant SKCA-BR 2 240290004 240290004 single base substitution A C intron_variant SKCA-BR 2 240293926 240293926 single base substitution G A intron_variant SKCA-BR 2 240294208 240294208 single base substitution C A intron_variant SKCA-BR 2 240294900 240294900 single base substitution T C intron_variant SKCA-BR 2 240297219 240297219 single base substitution G C intron_variant SKCA-BR 2 240298285 240298285 single base substitution A C intron_variant SKCA-BR 2 240300350 240300350 single base substitution T G intron_variant SKCA-BR 2 240300369 240300385 deletion of <=200bp CCCCGGGAACCAATGAA - intron_variant SKCA-BR 2 240304614 240304614 single base substitution G A intron_variant SKCA-BR 2 240305880 240305880 single base substitution T C intron_variant SKCA-BR 2 240306895 240306895 single base substitution C T intron_variant SKCA-BR 2 240312270 240312270 single base substitution G A intron_variant SKCA-BR 2 240315795 240315795 single base substitution G A intron_variant SKCA-BR 2 240316147 240316147 single base substitution C T intron_variant SKCA-BR 2 240320151 240320151 single base substitution G A intron_variant SKCA-BR 2 240320152 240320152 single base substitution G A intron_variant SKCA-BR 2 240322762 240322762 single base substitution G A intron_variant SKCA-BR 2 240322762 240322762 single base substitution G A upstream_gene_variant SKCA-BR 2 240322871 240322871 single base substitution G C intron_variant SKCA-BR 2 240322871 240322871 single base substitution G C upstream_gene_variant SKCA-BR 2 240323019 240323019 single base substitution A C intron_variant SKCA-BR 2 240323019 240323019 single base substitution A C upstream_gene_variant SKCA-BR 2 240323613 240323613 single base substitution T G upstream_gene_variant SKCA-BR 2 240326266 240326266 single base substitution T G upstream_gene_variant SKCA-BR 2 240327317 240327317 single base substitution G A upstream_gene_variant SKCM-US 2 239976470 239976470 single base substitution G A downstream_gene_variant SKCM-US 2 239976470 239976470 single base substitution G A synonymous_variant S1016S 3048C>T SKCM-US 2 239976470 239976470 single base substitution G A synonymous_variant S106S 318C>T SKCM-US 2 239976470 239976470 single base substitution G A synonymous_variant S600S 1800C>T SKCM-US 2 239990214 239990214 single base substitution G A exon_variant SKCM-US 2 239990214 239990214 single base substitution G A missense_variant P526L 1577C>T SKCM-US 2 239990214 239990214 single base substitution G A missense_variant P942L 2825C>T SKCM-US 2 239990214 239990214 single base substitution G A upstream_gene_variant SKCM-US 2 239990240 239990240 single base substitution G A exon_variant SKCM-US 2 239990240 239990240 single base substitution G A synonymous_variant F517F 1551C>T SKCM-US 2 239990240 239990240 single base substitution G A synonymous_variant F933F 2799C>T SKCM-US 2 239990240 239990240 single base substitution G A upstream_gene_variant SKCM-US 2 239990269 239990269 single base substitution G A exon_variant SKCM-US 2 239990269 239990269 single base substitution G A missense_variant P508S 1522C>T SKCM-US 2 239990269 239990269 single base substitution G A missense_variant P924S 2770C>T SKCM-US 2 239990269 239990269 single base substitution G A upstream_gene_variant SKCM-US 2 240016726 240016726 single base substitution G A exon_variant SKCM-US 2 240016726 240016726 single base substitution G A missense_variant L333F 997C>T SKCM-US 2 240016726 240016726 single base substitution G A missense_variant L723F 2167C>T SKCM-US 2 240016726 240016726 single base substitution G A missense_variant L749F 2245C>T SKCM-US 2 240016749 240016749 single base substitution G A exon_variant SKCM-US 2 240016749 240016749 single base substitution G A missense_variant S325L 974C>T SKCM-US 2 240016749 240016749 single base substitution G A missense_variant S715L 2144C>T SKCM-US 2 240016749 240016749 single base substitution G A missense_variant S741L 2222C>T SKCM-US 2 240024505 240024505 single base substitution T A exon_variant SKCM-US 2 240024505 240024505 single base substitution T A missense_variant N313Y 937A>T SKCM-US 2 240024505 240024505 single base substitution T A missense_variant N703Y 2107A>T SKCM-US 2 240024505 240024505 single base substitution T A missense_variant N729Y 2185A>T SKCM-US 2 240029877 240029877 single base substitution G A missense_variant L240F 718C>T SKCM-US 2 240029877 240029877 single base substitution G A missense_variant L630F 1888C>T SKCM-US 2 240029877 240029877 single base substitution G A missense_variant L656F 1966C>T SKCM-US 2 240029877 240029877 single base substitution G A splice_region_variant SKCM-US 2 240029877 240029877 single base substitution G A upstream_gene_variant SKCM-US 2 240033241 240033241 single base substitution G A exon_variant SKCM-US 2 240033241 240033241 single base substitution G A synonymous_variant T232T 696C>T SKCM-US 2 240033241 240033241 single base substitution G A synonymous_variant T622T 1866C>T SKCM-US 2 240033241 240033241 single base substitution G A synonymous_variant T648T 1944C>T SKCM-US 2 240033241 240033241 single base substitution G A upstream_gene_variant SKCM-US 2 240033331 240033331 single base substitution G A exon_variant SKCM-US 2 240033331 240033331 single base substitution G A synonymous_variant P202P 606C>T SKCM-US 2 240033331 240033331 single base substitution G A synonymous_variant P592P 1776C>T SKCM-US 2 240033331 240033331 single base substitution G A synonymous_variant P618P 1854C>T SKCM-US 2 240033331 240033331 single base substitution G A upstream_gene_variant SKCM-US 2 240036809 240036809 single base substitution G A exon_variant SKCM-US 2 240036809 240036809 single base substitution G A synonymous_variant P156P 468C>T SKCM-US 2 240036809 240036809 single base substitution G A synonymous_variant P546P 1638C>T SKCM-US 2 240036809 240036809 single base substitution G A synonymous_variant P572P 1716C>T SKCM-US 2 240036880 240036881 deletion of <=200bp CC - exon_variant SKCM-US 2 240036880 240036881 deletion of <=200bp CC - frameshift_variant KE132 SKCM-US 2 240036880 240036881 deletion of <=200bp CC - frameshift_variant KE522 SKCM-US 2 240036880 240036881 deletion of <=200bp CC - frameshift_variant KE548 SKCM-US 2 240036892 240036892 single base substitution G A exon_variant SKCM-US 2 240036892 240036892 single base substitution G A missense_variant P129S 385C>T SKCM-US 2 240036892 240036892 single base substitution G A missense_variant P519S 1555C>T SKCM-US 2 240036892 240036892 single base substitution G A missense_variant P545S 1633C>T SKCM-US 2 240048223 240048223 single base substitution G A downstream_gene_variant SKCM-US 2 240048223 240048223 single base substitution G A exon_variant SKCM-US 2 240048223 240048223 single base substitution G A stop_gained Q457* 1369C>T SKCM-US 2 240048223 240048223 single base substitution G A stop_gained Q483* 1447C>T SKCM-US 2 240048223 240048223 single base substitution G A stop_gained Q67* 199C>T SKCM-US 2 240055964 240055964 single base substitution G A downstream_gene_variant SKCM-US 2 240055964 240055964 single base substitution G A exon_variant SKCM-US 2 240055964 240055964 single base substitution G A missense_variant P393L 1178C>T SKCM-US 2 240055964 240055964 single base substitution G A missense_variant P424L 1271C>T SKCM-US 2 240055964 240055964 single base substitution G A missense_variant P8L 23C>T SKCM-US 2 240056275 240056275 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 2 240056275 240056275 single base substitution G A exon_variant SKCM-US 2 240056275 240056275 single base substitution G A missense_variant S317L 950C>T SKCM-US 2 240056275 240056275 single base substitution G A missense_variant S348L 1043C>T SKCM-US 2 240056275 240056275 single base substitution G A missense_variant S91L 272C>T SKCM-US 2 240078470 240078470 single base substitution C T splice_acceptor_variant SKCM-US 2 240078470 240078470 single base substitution C T upstream_gene_variant SKCM-US 2 240085518 240085518 single base substitution C T downstream_gene_variant SKCM-US 2 240085518 240085518 single base substitution C T exon_variant SKCM-US 2 240085518 240085518 single base substitution C T missense_variant D167N 499G>A SKCM-US 2 240085518 240085518 single base substitution C T missense_variant D198N 592G>A STAD-US 2 239975163 239975163 single base substitution C T downstream_gene_variant STAD-US 2 239975163 239975163 single base substitution C T missense_variant E1070K 3208G>A STAD-US 2 239975163 239975163 single base substitution C T missense_variant E160K 478G>A STAD-US 2 239975163 239975163 single base substitution C T missense_variant E654K 1960G>A STAD-US 2 239975238 239975238 single base substitution C T downstream_gene_variant STAD-US 2 239975238 239975238 single base substitution C T missense_variant A1045T 3133G>A STAD-US 2 239975238 239975238 single base substitution C T missense_variant A135T 403G>A STAD-US 2 239975238 239975238 single base substitution C T missense_variant A629T 1885G>A STAD-US 2 239976501 239976501 single base substitution T C downstream_gene_variant STAD-US 2 239976501 239976501 single base substitution T C missense_variant Q1006R 3017A>G STAD-US 2 239976501 239976501 single base substitution T C missense_variant Q590R 1769A>G STAD-US 2 239976501 239976501 single base substitution T C missense_variant Q96R 287A>G STAD-US 2 239976531 239976531 single base substitution T C downstream_gene_variant STAD-US 2 239976531 239976531 single base substitution T C splice_acceptor_variant STAD-US 2 239988477 239988477 single base substitution C T exon_variant STAD-US 2 239988477 239988477 single base substitution C T missense_variant D561N 1681G>A STAD-US 2 239988477 239988477 single base substitution C T missense_variant D67N 199G>A STAD-US 2 239988477 239988477 single base substitution C T missense_variant D977N 2929G>A STAD-US 2 240002800 240002800 single base substitution G A exon_variant STAD-US 2 240002800 240002800 single base substitution G A missense_variant A493V 1478C>T STAD-US 2 240002800 240002800 single base substitution G A missense_variant A909V 2726C>T STAD-US 2 240002823 240002823 deletion of <=200bp G - exon_variant STAD-US 2 240002823 240002823 deletion of <=200bp G - frameshift_variant P485 STAD-US 2 240002823 240002823 deletion of <=200bp G - frameshift_variant P901 STAD-US 2 240003864 240003864 single base substitution G A exon_variant STAD-US 2 240003864 240003864 single base substitution G A synonymous_variant V441V 1323C>T STAD-US 2 240003864 240003864 single base substitution G A synonymous_variant V857V 2571C>T STAD-US 2 240003864 240003864 single base substitution G A upstream_gene_variant STAD-US 2 240029856 240029856 single base substitution G C exon_variant STAD-US 2 240029856 240029856 single base substitution G C missense_variant L247V 739C>G STAD-US 2 240029856 240029856 single base substitution G C missense_variant L637V 1909C>G STAD-US 2 240029856 240029856 single base substitution G C missense_variant L663V 1987C>G STAD-US 2 240029856 240029856 single base substitution G C upstream_gene_variant STAD-US 2 240033244 240033244 deletion of <=200bp G - exon_variant STAD-US 2 240033244 240033244 deletion of <=200bp G - frameshift_variant P231 STAD-US 2 240033244 240033244 deletion of <=200bp G - frameshift_variant P621 STAD-US 2 240033244 240033244 deletion of <=200bp G - frameshift_variant P647 STAD-US 2 240033244 240033244 deletion of <=200bp G - upstream_gene_variant STAD-US 2 240033331 240033331 single base substitution G A exon_variant STAD-US 2 240033331 240033331 single base substitution G A synonymous_variant P202P 606C>T STAD-US 2 240033331 240033331 single base substitution G A synonymous_variant P592P 1776C>T STAD-US 2 240033331 240033331 single base substitution G A synonymous_variant P618P 1854C>T STAD-US 2 240033331 240033331 single base substitution G A upstream_gene_variant STAD-US 2 240033383 240033383 single base substitution C T exon_variant STAD-US 2 240033383 240033383 single base substitution C T missense_variant R185Q 554G>A STAD-US 2 240033383 240033383 single base substitution C T missense_variant R575Q 1724G>A STAD-US 2 240033383 240033383 single base substitution C T missense_variant R601Q 1802G>A STAD-US 2 240033383 240033383 single base substitution C T upstream_gene_variant STAD-US 2 240036871 240036871 single base substitution C T exon_variant STAD-US 2 240036871 240036871 single base substitution C T missense_variant A136T 406G>A STAD-US 2 240036871 240036871 single base substitution C T missense_variant A526T 1576G>A STAD-US 2 240036871 240036871 single base substitution C T missense_variant A552T 1654G>A STAD-US 2 240048352 240048352 single base substitution C T exon_variant STAD-US 2 240048352 240048352 single base substitution C T missense_variant A24T 70G>A STAD-US 2 240048352 240048352 single base substitution C T missense_variant A414T 1240G>A STAD-US 2 240048352 240048352 single base substitution C T missense_variant A440T 1318G>A STAD-US 2 240056118 240056118 single base substitution C T 5_prime_UTR_variant STAD-US 2 240056118 240056118 single base substitution C T exon_variant STAD-US 2 240056118 240056118 single base substitution C T missense_variant A116T 346G>A STAD-US 2 240056118 240056118 single base substitution C T missense_variant A342T 1024G>A STAD-US 2 240056118 240056118 single base substitution C T missense_variant A373T 1117G>A STAD-US 2 240056254 240056254 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 2 240056254 240056254 single base substitution G A exon_variant STAD-US 2 240056254 240056254 single base substitution G A missense_variant T324M 971C>T STAD-US 2 240056254 240056254 single base substitution G A missense_variant T355M 1064C>T STAD-US 2 240056254 240056254 single base substitution G A missense_variant T98M 293C>T STAD-US 2 240056289 240056289 single base substitution A G 5_prime_UTR_variant STAD-US 2 240056289 240056289 single base substitution A G exon_variant STAD-US 2 240056289 240056289 single base substitution A G synonymous_variant L312L 936T>C STAD-US 2 240056289 240056289 single base substitution A G synonymous_variant L343L 1029T>C STAD-US 2 240056289 240056289 single base substitution A G synonymous_variant L86L 258T>C STAD-US 2 240061463 240061463 single base substitution C T 5_prime_UTR_variant STAD-US 2 240061463 240061463 single base substitution C T exon_variant STAD-US 2 240061463 240061463 single base substitution C T missense_variant G268R 802G>A STAD-US 2 240061463 240061463 single base substitution C T missense_variant G299R 895G>A STAD-US 2 240061463 240061463 single base substitution C T missense_variant G42R 124G>A STAD-US 2 240066299 240066299 deletion of <=200bp T - 5_prime_UTR_variant STAD-US 2 240066299 240066299 deletion of <=200bp T - exon_variant STAD-US 2 240066299 240066299 deletion of <=200bp T - frameshift_variant K251 STAD-US 2 240066299 240066299 deletion of <=200bp T - frameshift_variant K282 STAD-US 2 240066299 240066299 deletion of <=200bp T - upstream_gene_variant STAD-US 2 240078381 240078381 single base substitution C T exon_variant STAD-US 2 240078381 240078381 single base substitution C T missense_variant D203N 607G>A STAD-US 2 240078381 240078381 single base substitution C T missense_variant D234N 700G>A STAD-US 2 240078381 240078381 single base substitution C T upstream_gene_variant STAD-US 2 240078398 240078398 single base substitution G A exon_variant STAD-US 2 240078398 240078398 single base substitution G A missense_variant P197L 590C>T STAD-US 2 240078398 240078398 single base substitution G A missense_variant P228L 683C>T STAD-US 2 240078398 240078398 single base substitution G A upstream_gene_variant STAD-US 2 240085512 240085512 single base substitution G A downstream_gene_variant STAD-US 2 240085512 240085512 single base substitution G A exon_variant STAD-US 2 240085512 240085512 single base substitution G A missense_variant R169C 505C>T STAD-US 2 240085512 240085512 single base substitution G A missense_variant R200C 598C>T STAD-US 2 240111758 240111758 single base substitution G A exon_variant STAD-US 2 240111758 240111758 single base substitution G A missense_variant A10V 29C>T STAD-US 2 240111758 240111758 single base substitution G A missense_variant A37V 110C>T STAD-US 2 240111758 240111758 single base substitution G A missense_variant A6V 17C>T THCA-SA 2 239972882 239972882 single base substitution A T 3_prime_UTR_variant THCA-SA 2 239972882 239972882 single base substitution A T downstream_gene_variant THCA-SA 2 240055966 240055966 single base substitution C T downstream_gene_variant THCA-SA 2 240055966 240055966 single base substitution C T exon_variant THCA-SA 2 240055966 240055966 single base substitution C T synonymous_variant P392P 1176G>A THCA-SA 2 240055966 240055966 single base substitution C T synonymous_variant P423P 1269G>A THCA-SA 2 240055966 240055966 single base substitution C T synonymous_variant P7P 21G>A THCA-SA 2 240066387 240066387 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant THCA-SA 2 240066387 240066387 single base substitution G A exon_variant THCA-SA 2 240066387 240066387 single base substitution G A missense_variant R222W 664C>T THCA-SA 2 240066387 240066387 single base substitution G A missense_variant R253W 757C>T THCA-SA 2 240066387 240066387 single base substitution G A upstream_gene_variant THCA-SA 2 240116262 240116262 single base substitution A G intron_variant THCA-SA 2 240116262 240116262 single base substitution A G upstream_gene_variant UCEC-US 2 239976475 239976475 single base substitution G A downstream_gene_variant UCEC-US 2 239976475 239976475 single base substitution G A missense_variant R1015C 3043C>T UCEC-US 2 239976475 239976475 single base substitution G A missense_variant R105C 313C>T UCEC-US 2 239976475 239976475 single base substitution G A missense_variant R599C 1795C>T UCEC-US 2 239988532 239988532 single base substitution C A exon_variant UCEC-US 2 239988532 239988532 single base substitution C A missense_variant K48N 144G>T UCEC-US 2 239988532 239988532 single base substitution C A missense_variant K542N 1626G>T UCEC-US 2 239988532 239988532 single base substitution C A missense_variant K958N 2874G>T UCEC-US 2 239988567 239988567 single base substitution G A intron_variant UCEC-US 2 239988567 239988567 single base substitution G A missense_variant P37S 109C>T UCEC-US 2 240002874 240002874 single base substitution G A exon_variant UCEC-US 2 240002874 240002874 single base substitution G A synonymous_variant P468P 1404C>T UCEC-US 2 240002874 240002874 single base substitution G A synonymous_variant P884P 2652C>T UCEC-US 2 240002874 240002874 single base substitution G A upstream_gene_variant UCEC-US 2 240003822 240003822 single base substitution G A exon_variant UCEC-US 2 240003822 240003822 single base substitution G A synonymous_variant F455F 1365C>T UCEC-US 2 240003822 240003822 single base substitution G A synonymous_variant F871F 2613C>T UCEC-US 2 240003822 240003822 single base substitution G A upstream_gene_variant UCEC-US 2 240005917 240005917 single base substitution G A exon_variant UCEC-US 2 240005917 240005917 single base substitution G A synonymous_variant S401S 1203C>T UCEC-US 2 240005917 240005917 single base substitution G A synonymous_variant S817S 2451C>T UCEC-US 2 240005917 240005917 single base substitution G A upstream_gene_variant UCEC-US 2 240005918 240005918 single base substitution G T exon_variant UCEC-US 2 240005918 240005918 single base substitution G T missense_variant S401Y 1202C>A UCEC-US 2 240005918 240005918 single base substitution G T missense_variant S817Y 2450C>A UCEC-US 2 240005918 240005918 single base substitution G T upstream_gene_variant UCEC-US 2 240011757 240011757 single base substitution G A downstream_gene_variant UCEC-US 2 240011757 240011757 single base substitution G A exon_variant UCEC-US 2 240011757 240011757 single base substitution G A missense_variant A358V 1073C>T UCEC-US 2 240011757 240011757 single base substitution G A missense_variant A774V 2321C>T UCEC-US 2 240011775 240011775 single base substitution G A downstream_gene_variant UCEC-US 2 240011775 240011775 single base substitution G A exon_variant UCEC-US 2 240011775 240011775 single base substitution G A missense_variant A352V 1055C>T UCEC-US 2 240011775 240011775 single base substitution G A missense_variant A768V 2303C>T UCEC-US 2 240048158 240048158 single base substitution C T downstream_gene_variant UCEC-US 2 240048158 240048158 single base substitution C T exon_variant UCEC-US 2 240048158 240048158 single base substitution C T missense_variant M478I 1434G>A UCEC-US 2 240048158 240048158 single base substitution C T missense_variant M504I 1512G>A UCEC-US 2 240048158 240048158 single base substitution C T missense_variant M88I 264G>A UCEC-US 2 240056275 240056275 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 2 240056275 240056275 single base substitution G A exon_variant UCEC-US 2 240056275 240056275 single base substitution G A missense_variant S317L 950C>T UCEC-US 2 240056275 240056275 single base substitution G A missense_variant S348L 1043C>T UCEC-US 2 240056275 240056275 single base substitution G A missense_variant S91L 272C>T UCEC-US 2 240061430 240061430 single base substitution C T 5_prime_UTR_variant UCEC-US 2 240061430 240061430 single base substitution C T exon_variant UCEC-US 2 240061430 240061430 single base substitution C T missense_variant V279I 835G>A UCEC-US 2 240061430 240061430 single base substitution C T missense_variant V310I 928G>A UCEC-US 2 240061430 240061430 single base substitution C T missense_variant V53I 157G>A UCEC-US 2 240066293 240066293 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 2 240066293 240066293 single base substitution G A exon_variant UCEC-US 2 240066293 240066293 single base substitution G A missense_variant P253L 758C>T UCEC-US 2 240066293 240066293 single base substitution G A missense_variant P284L 851C>T UCEC-US 2 240066293 240066293 single base substitution G A upstream_gene_variant UCEC-US 2 240066297 240066297 single base substitution G A 5_prime_UTR_variant UCEC-US 2 240066297 240066297 single base substitution G A exon_variant UCEC-US 2 240066297 240066297 single base substitution G A missense_variant R252C 754C>T UCEC-US 2 240066297 240066297 single base substitution G A missense_variant R283C 847C>T UCEC-US 2 240066297 240066297 single base substitution G A upstream_gene_variant UCEC-US 2 240066379 240066379 single base substitution C T 5_prime_UTR_variant UCEC-US 2 240066379 240066379 single base substitution C T exon_variant UCEC-US 2 240066379 240066379 single base substitution C T synonymous_variant R224R 672G>A UCEC-US 2 240066379 240066379 single base substitution C T synonymous_variant R255R 765G>A UCEC-US 2 240066379 240066379 single base substitution C T upstream_gene_variant UCEC-US 2 240078424 240078424 single base substitution G A exon_variant UCEC-US 2 240078424 240078424 single base substitution G A synonymous_variant S188S 564C>T UCEC-US 2 240078424 240078424 single base substitution G A synonymous_variant S219S 657C>T UCEC-US 2 240078424 240078424 single base substitution G A upstream_gene_variant UCEC-US 2 240085556 240085556 single base substitution G A exon_variant UCEC-US 2 240085556 240085556 single base substitution G A missense_variant A154V 461C>T UCEC-US 2 240085556 240085556 single base substitution G A missense_variant A185V 554C>T UCEC-US 2 240085607 240085607 single base substitution C T exon_variant UCEC-US 2 240085607 240085607 single base substitution C T missense_variant S137N 410G>A UCEC-US 2 240085607 240085607 single base substitution C T missense_variant S168N 503G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-8591-01 COSM4092774 c.3133G>A p.A1045T Substitution - Missense 2:239053542-239053542 - pfg068T COSM4764898 c.647C>T p.P216L Substitution - Missense 2:239156738-239156738 - YULAN COSM1018636 c.851C>T p.P284L Substitution - Missense 2:239144597-239144597 - AOCS-104-1-6 COSM4128245 c.1675A>T p.K559* Substitution - Nonsense 2:239115154-239115154 - CSCC-11-T COSM4476362 c.2062C>T p.R688C Substitution - Missense 2:239108085-239108085 - S02120 COSM5673643 c.986T>C p.L329S Substitution - Missense 2:239134636-239134636 - LS174T COSM2909154 c.1197C>A p.T399T Substitution - coding silent 2:239134342-239134342 - PT55 COSM5941649 c.718C>T p.P240S Substitution - Missense 2:239156667-239156667 - TCGA-60-2726-01 COSM720948 c.319C>A p.Q107K Substitution - Missense 2:239189853-239189853 - CSCC-41-T COSM4570534 c.2858T>A p.F953Y Substitution - Missense 2:239066852-239066852 - SNU-C2B COSM4651457 c.2094C>T p.C698C Substitution - coding silent 2:239108053-239108053 - 9227_T COSM5042875 c.2558G>A p.S853N Substitution - Missense 2:239082181-239082181 - ESO-116 COSM1254008 c.204G>A p.E68E Substitution - coding silent 2:239189968-239189968 - HCC1143 COSM26918 c.3073+1G>A p.? Unknown 2:239054748-239054748 - 1N55-VS-1T55 COSM4977094 c.37C>T p.R13* Substitution - Nonsense 2:239236650-239236650 - TCGA-CM-6162-01 COSM1406759 c.312C>T p.H104H Substitution - coding silent 2:239189860-239189860 - KM12 COSM4639123 c.1118C>T p.A373V Substitution - Missense 2:239134421-239134421 - TCGA-D1-A103-01 COSM1018615 c.2652C>T p.P884P Substitution - coding silent 2:239081178-239081178 - TCGA-D9-A4Z3-01 COSM3579793 c.2245C>T p.L749F Substitution - Missense 2:239095030-239095030 - SNU-C4 COSM4612431 c.2399delC p.P800fs*30 Deletion - Frameshift 2:239087589-239087589 - TCGA-BS-A0TJ-01 COSM1018642 c.724A>G p.R242G Substitution - Missense 2:239156661-239156661 - W040 COSM308046 c.1633C>T p.P545S Substitution - Missense 2:239115196-239115196 - HCT116 COSM4612431 c.2399delC p.P800fs*30 Deletion - Frameshift 2:239087589-239087589 - HCT8 COSM1531244 c.1548G>A p.R516R Substitution - coding silent 2:239115281-239115281 - HCC64T COSM1614602 c.637C>T p.Q213* Substitution - Nonsense 2:239156748-239156748 - TCGA-HT-8564-01 COSM3972137 c.3145G>A p.E1049K Substitution - Missense 2:239053530-239053530 - RMS66_ COSM4987999 c.2432G>A p.G811D Substitution - Missense 2:239084240-239084240 - T3236 COSM4689675 c.2430-1G>A p.? Unknown 2:239084243-239084243 - 2492711 COSM5718892 c.704C>T p.A235V Substitution - Missense 2:239156681-239156681 - TCGA-BR-7707-01 COSM4092789 c.1029T>C p.L343L Substitution - coding silent 2:239134593-239134593 - T407 COSM2909135 c.2063G>A p.R688H Substitution - Missense 2:239108084-239108084 - TCGA-32-4213-01 COSM3407733 c.2722T>C p.L908L Substitution - coding silent 2:239081108-239081108 - TCGA-FW-A3R5-06 COSM3909971 c.2825C>T p.P942L Substitution - Missense 2:239068518-239068518 - TCGA-CJ-6031-01 COSM477159 c.253C>G p.Q85E Substitution - Missense 2:239189919-239189919 - CN-AML-CR-68-Dx COSM5427867 c.734-7T>C p.? Unknown 2:239144721-239144721 - TCGA-BR-A4QL-01 COSM4092785 c.1117G>A p.A373T Substitution - Missense 2:239134422-239134422 - Pat_76_A COSM5862141 c.1696G>A p.D566N Substitution - Missense 2:239115133-239115133 - 8035732 COSM3391615 c.2896G>A p.G966S Substitution - Missense 2:239066814-239066814 - TCGA-AX-A0J1-01 COSM1018627 c.1512G>A p.M504I Substitution - Missense 2:239126462-239126462 - YUKAT COSM5396598 c.2743G>A p.V915I Substitution - Missense 2:239068600-239068600 - TCGA-EE-A29E-06 COSM1018631 c.1043C>T p.S348L Substitution - Missense 2:239134579-239134579 - TCGA-HU-A4H3-01 COSM4092787 c.1064C>T p.T355M Substitution - Missense 2:239134558-239134558 - Gp5D COSM2909183 c.175C>T p.L59L Substitution - coding silent 2:239189997-239189997 - CSCC-10-T COSM4446176 c.2855-10C>T p.? Unknown 2:239066865-239066865 - CHC892T COSM4960407 c.2190G>A p.R730R Substitution - coding silent 2:239102804-239102804 - TCGA-AP-A059-01 COSM1018611 c.3043C>T p.R1015C Substitution - Missense 2:239054779-239054779 - RKO COSM4648554 c.2937C>T p.T979T Substitution - coding silent 2:239066773-239066773 - 9583_CLM COSM5756022 c.743C>T p.P248L Substitution - Missense 2:239144705-239144705 - pfg106T COSM4764895 c.3234G>A p.M1078I Substitution - Missense 2:239053118-239053118 - IPMN41 COSM248951 c.2801A>G p.D934G Substitution - Missense 2:239068542-239068542 - TCGA-AX-A0J0-01 COSM1018634 c.928G>A p.V310I Substitution - Missense 2:239139734-239139734 - CSCC-35-T COSM4532456 c.1886G>A p.R629Q Substitution - Missense 2:239111603-239111603 - SNU-C2B COSM2909159 c.1017G>A p.S339S Substitution - coding silent 2:239134605-239134605 - HCC88T COSM1614598 c.2855-8C>A p.? Unknown 2:239066863-239066863 - TCGA-HU-A4GQ-01 COSM4092800 c.110C>T p.A37V Substitution - Missense 2:239190062-239190062 - BD35T COSM5520109 c.2498A>C p.K833T Substitution - Missense 2:239084174-239084174 - 587342 COSM1209382 c.2191C>T p.Q731* Substitution - Nonsense 2:239102803-239102803 - CSCC-10-T COSM4482482 c.2610C>T p.F870F Substitution - coding silent 2:239082129-239082129 - HCC30T COSM3709523 c.1401G>T p.S467S Substitution - coding silent 2:239126573-239126573 - PTC_351 COSM5957888 c.757C>T p.R253W Substitution - Missense 2:239144691-239144691 - TCGA-DG-A2KH-01 COSM4311375 c.412C>T p.R138C Substitution - Missense 2:239176491-239176491 - TCGA-ER-A198-06 COSM3579799 c.1944C>T p.T648T Substitution - coding silent 2:239111545-239111545 - TCGA-HU-A4G3-01 COSM4092778 c.2571C>T p.V857V Substitution - coding silent 2:239082168-239082168 - 585208 COSM325479 c.2635G>A p.E879K Substitution - Missense 2:239082104-239082104 - Gp2D COSM4628032 c.1560C>T p.S520S Substitution - coding silent 2:239115269-239115269 - TCGA-AP-A0LD-01 COSM1018613 c.2874G>T p.K958N Substitution - Missense 2:239066836-239066836 - 6P2-2 COSM3734202 c.842A>T p.K281I Substitution - Missense 2:239144606-239144606 - sysucc-715T COSM5461344 c.955G>A p.A319T Substitution - Missense 2:239139707-239139707 - HCC1143 COSM26918 c.3073+1G>A p.? Unknown 2:239054748-239054748 - RK019_C01 COSM1631924 c.541A>G p.N181D Substitution - Missense 2:239163873-239163873 - Pat_45_B COSM5862143 c.1270C>T p.P424S Substitution - Missense 2:239134269-239134269 - YUDON COSM5396599 c.1521C>T p.I507I Substitution - coding silent 2:239115308-239115308 - 759_T COSM3962595 c.1863C>T p.F621F Substitution - coding silent 2:239111626-239111626 - TCGA-66-2785-01 COSM720954 c.2837A>G p.Y946C Substitution - Missense 2:239068506-239068506 - TCGA-AA-A00U-01 COSM298997 c.705C>T p.A235A Substitution - coding silent 2:239156680-239156680 - TCGA-AP-A059-01 COSM1018619 c.2451C>T p.S817S Substitution - coding silent 2:239084221-239084221 - TCGA-DA-A1I8-06 COSM3579801 c.1854C>T p.P618P Substitution - coding silent 2:239111635-239111635 - TCGA-BP-4799-01 COSM3773957 c.2361A>G p.T787T Substitution - coding silent 2:239090021-239090021 - HCC107 COSM1614601 c.942C>T p.N314N Substitution - coding silent 2:239139720-239139720 - HX17T COSM1614599 c.1751G>T p.S584I Substitution - Missense 2:239115078-239115078 - TCGA-DK-A1A3-01 COSM418800 c.160G>A p.D54N Substitution - Missense 2:239190012-239190012 - CHC1738T COSM4805223 c.2929G>T p.D977Y Substitution - Missense 2:239066781-239066781 - KM12 COSM1669897 c.500C>T p.A167V Substitution - Missense 2:239163914-239163914 - 587316 COSM1209379 c.1654G>A p.A552T Substitution - Missense 2:239115175-239115175 - MZ7-mel COSM23303 c.346C>T p.Q116* Substitution - Nonsense 2:239176557-239176557 - CHC892T COSM4795363 c.2834G>A p.G945D Substitution - Missense 2:239068509-239068509 - 477 COSM4438782 c.2490C>T p.S830S Substitution - coding silent 2:239084182-239084182 - LP6007398-DNA_A01 COSM5951598 c.1939C>T p.P647S Substitution - Missense 2:239111550-239111550 - S00838 COSM5661567 c.3126G>A p.L1042L Substitution - coding silent 2:239053549-239053549 - TCGA-DU-5872-01 COSM3972138 c.3027C>T p.P1009P Substitution - coding silent 2:239054795-239054795 - RK308_C01 COSM3743708 c.3198G>C p.V1066V Substitution - coding silent 2:239053477-239053477 - TCGA-EK-A2IP-01 COSM1482942 c.2238C>A p.F746L Substitution - Missense 2:239095037-239095037 - TCGA-CG-5733-01 COSM4092796 c.683C>T p.P228L Substitution - Missense 2:239156702-239156702 - S01563 COSM311722 c.2577C>T p.Y859Y Substitution - coding silent 2:239082162-239082162 - 53 COSM5734782 c.3091_3113del23 p.L1031fs*37 Deletion - Frameshift 2:239053562-239053584 - TCGA-AX-A060-01 COSM1018629 c.1065G>A p.T355T Substitution - coding silent 2:239134557-239134557 - CSCC-49-T COSM4460393 c.1164C>T p.F388F Substitution - coding silent 2:239134375-239134375 - HN_62741 COSM123550 c.2660G>T p.G887V Substitution - Missense 2:239081170-239081170 - SM-4B296 COSM4410315 c.443G>A p.R148Q Substitution - Missense 2:239176460-239176460 - TCGA-BT-A0YX-01 COSM418801 c.936G>A p.A312A Substitution - coding silent 2:239139726-239139726 - TCGA-D1-A17H-01 COSM1018648 c.503G>A p.S168N Substitution - Missense 2:239163911-239163911 - Gp5D COSM1180905 c.2703delC p.M902fs*55 Deletion - Frameshift 2:239081127-239081127 - 2217540 COSM4421632 c.2736A>G p.R912R Substitution - coding silent 2:239068607-239068607 - HCC30T COSM3709522 c.2373+2T>C p.? Unknown 2:239090007-239090007 - TCGA-P5-A5F2-01 COSM1406761 c.155G>A p.R52H Substitution - Missense 2:239190017-239190017 - TCGA-DD-A4NF-01 COSM4912787 c.1153C>T p.L385F Substitution - Missense 2:239134386-239134386 - 2521259 COSM5889707 c.1349C>T p.S450F Substitution - Missense 2:239126625-239126625 - TCGA-CD-A4MG-01 COSM4092775 c.2989-2A>G p.? Unknown 2:239054835-239054835 - NCI-H835 COSM2909160 c.998T>C p.L333P Substitution - Missense 2:239134624-239134624 - TCGA-FW-A3R5-06 COSM3909972 c.2799C>T p.F933F Substitution - coding silent 2:239068544-239068544 - LUAD-B01970 COSM356100 c.876C>G p.C292W Substitution - Missense 2:239139786-239139786 - 585208 COSM325480 c.420G>T p.E140D Substitution - Missense 2:239176483-239176483 - 587278 COSM1209380 c.1100C>T p.T367M Substitution - Missense 2:239134439-239134439 - CSCC-49-T COSM4464852 c.1355C>T p.S452F Substitution - Missense 2:239126619-239126619 - DLD1 COSM1531244 c.1548G>A p.R516R Substitution - coding silent 2:239115281-239115281 - 2217540 COSM4421633 c.2746A>T p.M916L Substitution - Missense 2:239068597-239068597 - 255 COSM3731719 c.2955G>A p.S985S Substitution - coding silent 2:239066755-239066755 - RKO COSM2909111 c.2900G>A p.R967Q Substitution - Missense 2:239066810-239066810 - CADO-ES1 COSM2909105 c.3031G>A p.A1011T Substitution - Missense 2:239054791-239054791 - TCGA-D3-A51F-06 COSM308046 c.1633C>T p.P545S Substitution - Missense 2:239115196-239115196 - cSCCP7 COSM139439 c.490+1G>A p.? Unknown 2:239176412-239176412 - CHC462T COSM3668631 c.3164C>G p.T1055R Substitution - Missense 2:239053511-239053511 - BD6T COSM5498830 c.2219-5delC p.? Unknown 2:239095061-239095061 - TCGA-AN-A0FS-01 COSM442597 c.2306G>A p.G769E Substitution - Missense 2:239090076-239090076 - T276 COSM3579808 c.1271C>T p.P424L Substitution - Missense 2:239134268-239134268 - TCGA-B6-A0I6-01 COSM1209378 c.1867G>T p.G623C Substitution - Missense 2:239111622-239111622 - 2492712 COSM5718892 c.704C>T p.A235V Substitution - Missense 2:239156681-239156681 - RKO COSM4648555 c.978G>T p.E326D Substitution - Missense 2:239139684-239139684 - OSCC-GB_00640111 COSM4885315 c.2653G>C p.G885R Substitution - Missense 2:239081177-239081177 - 46M COSM5587964 c.1989G>A p.L663L Substitution - coding silent 2:239108158-239108158 - TCGA-A2-A25A-01 COSM1482942 c.2238C>A p.F746L Substitution - Missense 2:239095037-239095037 - TCGA-HU-8602-01 COSM4092794 c.700G>A p.D234N Substitution - Missense 2:239156685-239156685 - 1N54-VS-1T54 COSM4977007 c.2842C>G p.L948V Substitution - Missense 2:239068501-239068501 - QC2-39-T2 COSM5655459 c.2226C>T p.L742L Substitution - coding silent 2:239095049-239095049 - CHEWS025 COSM4583358 c.2990T>C p.L997P Substitution - Missense 2:239054832-239054832 - TCGA-AM-5820-01 COSM3758097 c.1566G>A p.P522P Substitution - coding silent 2:239115263-239115263 - TCGA-46-3769-01 COSM720952 c.2223G>A p.S741S Substitution - coding silent 2:239095052-239095052 - HCC120 COSM3709528 c.716T>A p.F239Y Substitution - Missense 2:239156669-239156669 - CHC892T COSM4795363 c.2834G>A p.G945D Substitution - Missense 2:239068509-239068509 - sysucc-1163T COSM4092800 c.110C>T p.A37V Substitution - Missense 2:239190062-239190062 - TCGA-36-1575-01 COSM117346 c.578A>C p.H193P Substitution - Missense 2:239163836-239163836 - TCGA-14-0865 COSM2154854 c.581G>C p.C194S Substitution - Missense 2:239163833-239163833 - TCGA-CK-5913-01 COSM1406752 c.1167delC p.G390fs*8 Deletion - Frameshift 2:239134372-239134372 - 6P2-1 COSM3734202 c.842A>T p.K281I Substitution - Missense 2:239144606-239144606 - 12924 COSM5617125 c.1720C>A p.R574R Substitution - coding silent 2:239115109-239115109 - ESO-1096 COSM1254007 c.3038C>T p.A1013V Substitution - Missense 2:239054784-239054784 - NB-1110 COSM1285331 c.2750C>T p.P917L Substitution - Missense 2:239068593-239068593 - CSCC-20-T COSM4505054 c.682C>T p.P228S Substitution - Missense 2:239156703-239156703 - TCGA-CG-4442-01 COSM2909148 c.1318G>A p.A440T Substitution - Missense 2:239126656-239126656 - ESCC_BICR_033T COSM5439742 c.313G>A p.E105K Substitution - Missense 2:239189859-239189859 - 2521244 COSM1254007 c.3038C>T p.A1013V Substitution - Missense 2:239054784-239054784 - sysucc-1317T COSM5449679 c.2946C>T p.C982C Substitution - coding silent 2:239066764-239066764 - TCGA-10-0934-01 COSM133458 c.158_159TG>AT p.L53H Substitution - Missense 2:239190013-239190014 - TCGA-AP-A0LM-01 COSM1018625 c.2303C>T p.A768V Substitution - Missense 2:239090079-239090079 - SNU-175 COSM2909117 c.2591G>A p.R864H Substitution - Missense 2:239082148-239082148 - CSCC-10-T COSM4563488 c.976G>A p.E326K Substitution - Missense 2:239139686-239139686 - TCGA-D5-6928-01 COSM1406751 c.1868G>A p.G623D Substitution - Missense 2:239111621-239111621 - PT35 COSM5911660 c.629C>T p.S210F Substitution - Missense 2:239156756-239156756 - BD114T COSM5502647 c.3193G>C p.G1065R Substitution - Missense 2:239053482-239053482 - 12-P412 COSM4583359 c.174A>G p.S58S Substitution - coding silent 2:239189998-239189998 - TCGA-CG-4443-01 COSM3579801 c.1854C>T p.P618P Substitution - coding silent 2:239111635-239111635 - TCGA-D8-A1XQ-01 COSM3839024 c.3184C>T p.L1062L Substitution - coding silent 2:239053491-239053491 - YUPEET COSM1692242 c.2518G>A p.D840N Substitution - Missense 2:239082221-239082221 - 587350 COSM1180905 c.2703delC p.M902fs*55 Deletion - Frameshift 2:239081127-239081127 - T8 COSM5618559 c.2239G>C p.V747L Substitution - Missense 2:239095036-239095036 - 587220 COSM1209378 c.1867G>T p.G623C Substitution - Missense 2:239111622-239111622 - T3240 COSM4689676 c.2239G>A p.V747I Substitution - Missense 2:239095036-239095036 - HCT8 COSM2909158 c.1041A>C p.T347T Substitution - coding silent 2:239134581-239134581 - CHC1738T COSM4805223 c.2929G>T p.D977Y Substitution - Missense 2:239066781-239066781 - sysucc-1317T COSM5449680 c.2393G>A p.R798H Substitution - Missense 2:239087595-239087595 - TCGA-BR-4361-01 COSM2909106 c.3017A>G p.Q1006R Substitution - Missense 2:239054805-239054805 - TCGA-33-4566-01 COSM720953 c.2781G>T p.V927V Substitution - coding silent 2:239068562-239068562 - PT55 COSM5941651 c.2248C>T p.P750S Substitution - Missense 2:239095027-239095027 - ESO-143 COSM1254010 c.2083C>T p.R695W Substitution - Missense 2:239108064-239108064 - TCGA-HU-A4GX-01 COSM1209379 c.1654G>A p.A552T Substitution - Missense 2:239115175-239115175 - TCGA-D3-A3MR-06 COSM3579803 c.1716C>T p.P572P Substitution - coding silent 2:239115113-239115113 - 544 COSM3909973 c.2222C>T p.S741L Substitution - Missense 2:239095053-239095053 - T3024 COSM4689682 c.1696G>T p.D566Y Substitution - Missense 2:239115133-239115133 - TCGA-EE-A2GC-06 COSM2909175 c.592G>A p.D198N Substitution - Missense 2:239163822-239163822 - ccRCC-60 COSM1662106 c.2828T>C p.L943P Substitution - Missense 2:239068515-239068515 - I2L-P19Tb-Tumor-Organoid COSM4689684 c.954C>T p.P318P Substitution - coding silent 2:239139708-239139708 - B9 COSM253734 c.591C>T p.S197S Substitution - coding silent 2:239163823-239163823 - TCGA-FW-A3R5-06 COSM3909973 c.2222C>T p.S741L Substitution - Missense 2:239095053-239095053 - T2269 COSM3909972 c.2799C>T p.F933F Substitution - coding silent 2:239068544-239068544 - TCGA-BS-A0TA-01 COSM1018623 c.2321C>T p.A774V Substitution - Missense 2:239090061-239090061 - HCC107T COSM1614601 c.942C>T p.N314N Substitution - coding silent 2:239139720-239139720 - TCGA-B5-A11E-01 COSM1018640 c.765G>A p.R255R Substitution - coding silent 2:239144683-239144683 - Gp2D COSM2909183 c.175C>T p.L59L Substitution - coding silent 2:239189997-239189997 - CSCC-11-T COSM4540267 c.2812G>A p.G938S Substitution - Missense 2:239068531-239068531 - TCGA-76-4927-01 COSM3407734 c.935C>T p.A312V Substitution - Missense 2:239139727-239139727 - TCGA-D5-6930-01 COSM1406755 c.898C>T p.P300S Substitution - Missense 2:239139764-239139764 - TCGA-AP-A051-01 COSM1018638 c.847C>T p.R283C Substitution - Missense 2:239144601-239144601 - HCT15 COSM2909174 c.599G>A p.R200H Substitution - Missense 2:239163815-239163815 - 6T COSM3734204 c.658G>A p.G220R Substitution - Missense 2:239156727-239156727 - TCGA-EI-6882-01 COSM720956 c.3165G>A p.T1055T Substitution - coding silent 2:239053510-239053510 - CSCC-44-T COSM4513718 c.948C>T p.I316I Substitution - coding silent 2:239139714-239139714 - TCGA-14-0865 COSM117346 c.578A>C p.H193P Substitution - Missense 2:239163836-239163836 - STC263 COSM3758097 c.1566G>A p.P522P Substitution - coding silent 2:239115263-239115263 - TCGA-CG-4442-01 COSM4092779 c.1987C>G p.L663V Substitution - Missense 2:239108160-239108160 - T25 COSM5344141 c.2469G>T p.K823N Substitution - Missense 2:239084203-239084203 - TCGA-BS-A0UV-01 COSM1018617 c.2613C>T p.F871F Substitution - coding silent 2:239082126-239082126 - T3064 COSM1180905 c.2703delC p.M902fs*55 Deletion - Frameshift 2:239081127-239081127 - J1_T COSM3962593 c.2087G>T p.G696V Substitution - Missense 2:239108060-239108060 - BD6T COSM5498832 c.958G>A p.V320I Substitution - Missense 2:239139704-239139704 - tumor_4147968 COSM5946915 c.866-5C>T p.? Unknown 2:239139801-239139801 - TCGA-AP-A0LM-01 COSM1018611 c.3043C>T p.R1015C Substitution - Missense 2:239054779-239054779 - I2L-P19Tb-Tumor-Biopsy COSM4689684 c.954C>T p.P318P Substitution - coding silent 2:239139708-239139708 - MZ7-mel COSM23304 c.973G>A p.A325T Substitution - Missense 2:239139689-239139689 - 35M COSM5581286 c.2516G>A p.W839* Substitution - Nonsense 2:239084156-239084156 - PCSI_0083_Pa_P_526 COSM3782157 c.92C>T p.T31M Substitution - Missense 2:239236595-239236595 - GHE1209 COSM5715101 c.3196G>A p.V1066M Substitution - Missense 2:239053479-239053479 - RK035_C01 COSM1631923 c.1603C>A p.L535M Substitution - Missense 2:239115226-239115226 - TCGA-D8-A1J8-01 COSM3839026 c.981G>A p.T327T Substitution - coding silent 2:239134641-239134641 - LUAD-RT-S01703 COSM379677 c.481G>T p.G161C Substitution - Missense 2:239176422-239176422 - AOCS-092-3-3 COSM4128244 c.2938G>A p.A980T Substitution - Missense 2:239066772-239066772 - TCGA-HJ-7597-01 COSM4092798 c.598C>T p.R200C Substitution - Missense 2:239163816-239163816 - TCGA-D5-6540-01 COSM1406750 c.1921G>A p.V641M Substitution - Missense 2:239111568-239111568 - TCGA-EV-5903-01 COSM3991179 c.2943T>A p.I981I Substitution - coding silent 2:239066767-239066767 - T2944 COSM2909135 c.2063G>A p.R688H Substitution - Missense 2:239108084-239108084 - HN_62672 COSM128141 c.414C>T p.R138R Substitution - coding silent 2:239176489-239176489 - YUKAT COSM5396601 c.972G>A p.P324P Substitution - coding silent 2:239139690-239139690 - 6P2-2 COSM3734204 c.658G>A p.G220R Substitution - Missense 2:239156727-239156727 - 587342 COSM1209383 c.1733C>T p.P578L Substitution - Missense 2:239115096-239115096 - RK019_C COSM1631924 c.541A>G p.N181D Substitution - Missense 2:239163873-239163873 - TCGA-HU-A4GT-01 COSM4092792 c.895G>A p.G299R Substitution - Missense 2:239139767-239139767 - TCGA-EB-A553-01 COSM3579806 c.1447C>T p.Q483* Substitution - Nonsense 2:239126527-239126527 - B9-Tumor COSM253734 c.591C>T p.S197S Substitution - coding silent 2:239163823-239163823 - B9 COSM253734 c.591C>T p.S197S Substitution - coding silent 2:239163823-239163823 - S01563 COSM311722 c.2577C>T p.Y859Y Substitution - coding silent 2:239082162-239082162 - TCGA-RP-A695-06 COSM4896637 c.612-1G>A p.? Unknown 2:239156774-239156774 - CSCC-11-T COSM4483906 c.2749C>T p.P917S Substitution - Missense 2:239068594-239068594 - 2492714 COSM5718892 c.704C>T p.A235V Substitution - Missense 2:239156681-239156681 - 510 COSM5611676 c.2164C>T p.L722L Substitution - coding silent 2:239102830-239102830 - T1185 COSM1018644 c.657C>T p.S219S Substitution - coding silent 2:239156728-239156728 - LUAD-E00934 COSM393568 c.2784G>T p.L928L Substitution - coding silent 2:239068559-239068559 - KM12 COSM1180905 c.2703delC p.M902fs*55 Deletion - Frameshift 2:239081127-239081127 - LS180 COSM2909154 c.1197C>A p.T399T Substitution - coding silent 2:239134342-239134342 - BN37T COSM1614600 c.1144C>A p.Q382K Substitution - Missense 2:239134395-239134395 - LS174T COSM4646062 c.271G>A p.A91T Substitution - Missense 2:239189901-239189901 - TCGA-EE-A2MR-06 COSM3579792 c.2770C>T p.P924S Substitution - Missense 2:239068573-239068573 - T3090 COSM3839026 c.981G>A p.T327T Substitution - coding silent 2:239134641-239134641 - T2197 COSM4689684 c.954C>T p.P318P Substitution - coding silent 2:239139708-239139708 - DLD1 COSM2909158 c.1041A>C p.T347T Substitution - coding silent 2:239134581-239134581 - B65 COSM1752461 c.390C>T p.H130H Substitution - coding silent 2:239176513-239176513 - cSCCP6 COSM136315 c.1088C>T p.P363L Substitution - Missense 2:239134534-239134534 - TCGA-10-0928-01 COSM82171 c.2106C>T p.R702R Substitution - coding silent 2:239102888-239102888 - TCGA-18-3409-01 COSM720949 c.721C>T p.L241F Substitution - Missense 2:239156664-239156664 - HCC88 COSM1614598 c.2855-8C>A p.? Unknown 2:239066863-239066863 - TCGA-14-0865 COSM2154943 c.579C>T p.H193H Substitution - coding silent 2:239163835-239163835 - Gp2D COSM2909113 c.2804C>T p.A935V Substitution - Missense 2:239068539-239068539 - TCGA-70-6722-01 COSM720951 c.2042G>A p.R681K Substitution - Missense 2:239108105-239108105 - SNU-175 COSM2909134 c.2111G>A p.R704H Substitution - Missense 2:239102883-239102883 - HCC30 COSM3709523 c.1401G>T p.S467S Substitution - coding silent 2:239126573-239126573 - TCGA-B7-5816-01 COSM4092776 c.2929G>A p.D977N Substitution - Missense 2:239066781-239066781 - CHC892T COSM4959325 c.285G>A p.R95R Substitution - coding silent 2:239189887-239189887 - TCGA-19-1786 COSM2155837 c.528A>G p.Q176Q Substitution - coding silent 2:239163886-239163886 - TCGA-D3-A2JK-06 COSM3579808 c.1271C>T p.P424L Substitution - Missense 2:239134268-239134268 - 587342 COSM1209384 c.776A>G p.K259R Substitution - Missense 2:239144672-239144672 - TCGA-A6-6780-01 COSM1406754 c.975G>T p.A325A Substitution - coding silent 2:239139687-239139687 - TCGA-AN-A0AK-01 COSM5205888 c.845delA p.K282fs*116 Deletion - Frameshift 2:239144603-239144603 - TCGA-B5-A11E-01 COSM1018636 c.851C>T p.P284L Substitution - Missense 2:239144597-239144597 - BN37 COSM1614600 c.1144C>A p.Q382K Substitution - Missense 2:239134395-239134395 - HCT15 COSM1531244 c.1548G>A p.R516R Substitution - coding silent 2:239115281-239115281 - 585272 COSM320778 c.1495C>G p.Q499E Substitution - Missense 2:239126479-239126479 - RG06 COSM3728097 c.2686G>A p.G896S Substitution - Missense 2:239081144-239081144 - ESCC_BICR_057T COSM5436828 c.1111C>A p.Q371K Substitution - Missense 2:239134428-239134428 - TCGA-AD-6964-01 COSM1406756 c.883G>A p.A295T Substitution - Missense 2:239139779-239139779 - CHC892T COSM4959325 c.285G>A p.R95R Substitution - coding silent 2:239189887-239189887 - 6T COSM3734202 c.842A>T p.K281I Substitution - Missense 2:239144606-239144606 - TCGA-AX-A05Z-01 COSM1018631 c.1043C>T p.S348L Substitution - Missense 2:239134579-239134579 - TCGA-14-0865 COSM2154961 c.583A>C p.I195L Substitution - Missense 2:239163831-239163831 - SC_9058 COSM5553713 c.2130G>C p.E710D Substitution - Missense 2:239102864-239102864 - 587350 COSM1209381 c.1096-1G>T p.? Unknown 2:239134444-239134444 - T407 COSM4689680 c.2137A>G p.T713A Substitution - Missense 2:239102857-239102857 - TCGA-AD-6889-01 COSM1406761 c.155G>A p.R52H Substitution - Missense 2:239190017-239190017 - PCSI_0101_Pa_P COSM216574 c.2110C>T p.R704C Substitution - Missense 2:239102884-239102884 - TCGA-FS-A1ZW-06 COSM3579795 c.2185A>T p.N729Y Substitution - Missense 2:239102809-239102809 - B65-Tumor COSM1752461 c.390C>T p.H130H Substitution - coding silent 2:239176513-239176513 - I2L-P19Tb-Tumor-Organoid COSM5354264 c.107C>T p.T36M Substitution - Missense 2:239190065-239190065 - TCGA-14-0865 COSM2154853 c.582C>T p.C194C Substitution - coding silent 2:239163832-239163832 - Pat_02_B COSM5862145 c.1160T>C p.L387P Substitution - Missense 2:239134379-239134379 - CSCC-16-T COSM4464870 c.1356C>T p.S452S Substitution - coding silent 2:239126618-239126618 - BCM399T COSM4955313 c.1119C>T p.A373A Substitution - coding silent 2:239134420-239134420 - HCC64 COSM1614602 c.637C>T p.Q213* Substitution - Nonsense 2:239156748-239156748 - Gp5D COSM2909113 c.2804C>T p.A935V Substitution - Missense 2:239068539-239068539 - TCGA-AA-A00J-01 COSM298352 c.2102_2103delTC p.I701fs*35 Deletion - Frameshift 2:239102891-239102892 - HCC120T COSM3709528 c.716T>A p.F239Y Substitution - Missense 2:239156669-239156669 - Pat_45_A COSM3579793 c.2245C>T p.L749F Substitution - Missense 2:239095030-239095030 - TCGA-D5-6540-01 COSM1180905 c.2703delC p.M902fs*55 Deletion - Frameshift 2:239081127-239081127 - TCGA-ER-A199-06 COSM3579791 c.3048C>T p.S1016S Substitution - coding silent 2:239054774-239054774 - sysucc-1370T COSM5471506 c.2789C>T p.S930L Substitution - Missense 2:239068554-239068554 - PTC-7C COSM4133598 c.1269G>A p.P423P Substitution - coding silent 2:239134270-239134270 - BD124T COSM5491607 c.1167C>T p.P389P Substitution - coding silent 2:239134372-239134372 - PT33 COSM4311302 c.2314C>T p.R772C Substitution - Missense 2:239090068-239090068 - KPOPBR-48-T COSM5964145 c.978+9G>A p.? Unknown 2:239139675-239139675 - TCGA-BR-8372-01 COSM4092781 c.1802G>A p.R601Q Substitution - Missense 2:239111687-239111687 - BCM399T COSM4955313 c.1119C>T p.A373A Substitution - coding silent 2:239134420-239134420 - YULAXER COSM1692243 c.2432G>T p.G811V Substitution - Missense 2:239084240-239084240 - HCC30 COSM3709522 c.2373+2T>C p.? Unknown 2:239090007-239090007 - TCGA-CM-5861-01 COSM1406760 c.307C>T p.Q103* Substitution - Nonsense 2:239189865-239189865 - LS174T COSM2909186 c.128C>T p.A43V Substitution - Missense 2:239190044-239190044 - U2940 COSM5620936 c.28C>T p.L10F Substitution - Missense 2:239236659-239236659 - sysucc-1370T COSM5471507 c.111G>A p.A37A Substitution - coding silent 2:239190061-239190061 - TCGA-AC-A5XS-01 COSM4390936 c.1132C>G p.L378V Substitution - Missense 2:239134407-239134407 - TCGA-22-4591-01 COSM720956 c.3165G>A p.T1055T Substitution - coding silent 2:239053510-239053510 - HCT15 COSM2909158 c.1041A>C p.T347T Substitution - coding silent 2:239134581-239134581 - TCGA-19-1786 COSM2155743 c.530A>C p.E177A Substitution - Missense 2:239163884-239163884 - TCGA-B5-A11E-01 COSM1018621 c.2450C>A p.S817Y Substitution - Missense 2:239084222-239084222 - OSCC-GB_00630111 COSM4885017 c.1902C>A p.P634P Substitution - coding silent 2:239111587-239111587 - ESCC-237T COSM3939008 c.2598C>T p.D866D Substitution - coding silent 2:239082141-239082141 - KM12 COSM1669897 c.500C>T p.A167V Substitution - Missense 2:239163914-239163914 - CHC892T COSM4960407 c.2190G>A p.R730R Substitution - coding silent 2:239102804-239102804 - Gp2D COSM1180905 c.2703delC p.M902fs*55 Deletion - Frameshift 2:239081127-239081127 - TCGA-HU-A4G9-01 COSM4092777 c.2726C>T p.A909V Substitution - Missense 2:239081104-239081104 - 8067507 COSM4389277 c.230C>T p.A77V Substitution - Missense 2:239189942-239189942 - LUAD-RT-S01813 COSM383307 c.809G>T p.R270L Substitution - Missense 2:239144639-239144639 - KYSE-510 COSM2909108 c.2960C>G p.A987G Substitution - Missense 2:239066750-239066750 - PCSI_0101_Pa_P_526 COSM216574 c.2110C>T p.R704C Substitution - Missense 2:239102884-239102884 - BB27T COSM32457 c.2180C>G p.P727R Substitution - Missense 2:239102814-239102814 - 6P2-1 COSM3734204 c.658G>A p.G220R Substitution - Missense 2:239156727-239156727 - LS180 COSM2909186 c.128C>T p.A43V Substitution - Missense 2:239190044-239190044 - ESO-1427 COSM1254009 c.2229C>T p.A743A Substitution - coding silent 2:239095046-239095046 - 2492713 COSM5718892 c.704C>T p.A235V Substitution - Missense 2:239156681-239156681 - T3152 COSM4689678 c.2171G>A p.G724D Substitution - Missense 2:239102823-239102823 - TCGA-AA-3812-01 COSM270702 c.516G>C p.K172N Substitution - Missense 2:239163898-239163898 - TCGA-D1-A103-01 COSM1018631 c.1043C>T p.S348L Substitution - Missense 2:239134579-239134579 - TCGA-AX-A0J1-01 COSM1018644 c.657C>T p.S219S Substitution - coding silent 2:239156728-239156728 - TCGA-HF-7132-01 COSM4092773 c.3208G>A p.E1070K Substitution - Missense 2:239053467-239053467 - TCGA-G4-6302-01 COSM3695375 c.70C>T p.R24C Substitution - Missense 2:239236617-239236617 - TCGA-AP-A056-01 COSM1018646 c.554C>T p.A185V Substitution - Missense 2:239163860-239163860 - 12924 COSM5615049 c.1721G>C p.R574P Substitution - Missense 2:239115108-239115108 - 19M COSM5578690 c.1031C>T p.P344L Substitution - Missense 2:239134591-239134591 - PTC-7C COSM4133597 c.2565C>T p.P855P Substitution - coding silent 2:239082174-239082174 - LOVO COSM2909133 c.2116G>A p.A706T Substitution - Missense 2:239102878-239102878 - I2L-P19Tb-Tumor-Biopsy COSM5354264 c.107C>T p.T36M Substitution - Missense 2:239190065-239190065 - TCGA-66-2794-01 COSM720950 c.1237C>G p.L413V Substitution - Missense 2:239134302-239134302 - LUAD-U6SJ7 COSM400248 c.2263G>T p.G755W Substitution - Missense 2:239095012-239095012 - TCGA-GV-A3QK-01 COSM418801 c.936G>A p.A312A Substitution - coding silent 2:239139726-239139726 - TCGA-FS-A1Z3-06 COSM3579797 c.1966C>T p.L656F Substitution - Missense 2:239108181-239108181 - TCGA-BT-A20T-01 COSM418802 c.1759G>C p.E587Q Substitution - Missense 2:239115070-239115070 - 587238 COSM1209377 c.703G>A p.A235T Substitution - Missense 2:239156682-239156682 - TCGA-22-5473-01 COSM720955 c.2916C>T p.L972L Substitution - coding silent 2:239066794-239066794 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.20516 2q37.3 605314

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.2218+35T>C 2 240024437 CM A G IntronicSNV . c.22+27511T>C 2 240246862 CLL A G SpliceDonorSNV . c.2373+2T>C 2 240011703 CM A G Synonymous p.L908L c.2722T>C 2 240002804 GBM CA AT Missense p.L53H c.158_159delinsAT 2 240111709 OV C A Missense p.A185S c.553G>T 2 240085557 LUAD C A Missense p.E1076D c.3228G>T 2 239974820 LUAD C A Missense p.E140D c.420G>T 2 240098179 SCLC C A Missense p.E996D c.2988G>T 2 239988418 LUAD C A Missense p.G769V c.2306G>T 2 240011772 LUAD C A Missense p.G887V c.2660G>T 2 240002866 HNSC C A Missense p.K958N c.2874G>T 2 239988532 UCEC C A Nonsense p.E1080* c.3238G>T 2 239974810 LUAD C A Nonsense p.E986* c.2956G>T 2 239988450 HNSC CC - Frameshift p.E549Gfs*15 c.1644_1645delGG 2 240036880 CM CG AT Missense p.R148M c.442_443delinsAT 2 240098156 CM C G IntronicSNV . c.1294+2993G>C 2 240052948 PIA C G Missense p.E587Q c.1759G>C 2 240036766 BLCA C G Missense p.K172N c.516G>C 2 240085594 COREAD C G Missense p.P727R c.2180C>G 2 240024510 BRCA C G Missense p.R574P c.1721G>C 2 240036804 NSCLC C G Synonymous p.P917P c.2751G>C 2 239990288 LUAD C T IntronicSNV . c.2855-73G>A 2 239988624 BRCA C T IntronicSNV . c.94+3813G>A 2 240154476 PIA C T Missense p.D198N c.592G>A 2 240085518 CM C T Missense p.D198N c.592G>A 2 240085518 HNSC C T Missense p.D54N c.160G>A 2 240111708 BLCA C T Missense p.D977N c.2929G>A 2 239988477 STAD C T Missense p.E677K c.2029G>A 2 240029814 CM C T Missense p.E879K c.2635G>A 2 240003800 SCLC C T Missense p.G769E c.2306G>A 2 240011772 BRCA C T Missense p.R255K c.764G>A 2 240066380 MM C T Missense p.R681K c.2042G>A 2 240029801 LUSC C T Missense p.S168N c.503G>A 2 240085607 UCEC C T Synonymous p.A312A c.936G>A 2 240061422 BLCA C T Synonymous p.E68E c.204G>A 2 240111664 ESCA C T Synonymous p.S741S c.2223G>A 2 240016748 LUSC C T Synonymous p.T1055T c.3165G>A 2 239975206 LUSC C T Synonymous p.T692T c.2076G>A 2 240029767 HNSC G A 3-UTRSNV . c.3252+88C>T 2 239974708 CM G A Missense p.A1013V c.3038C>T 2 239976480 ESCA G A Missense p.A312V c.935C>T 2 240061423 GBM G A Missense p.A319V c.956C>T 2 240061402 CM G A Missense p.A774V c.2321C>T 2 240011757 UCEC G A Missense p.L656F c.1966C>T 2 240029877 CM G A Missense p.P228L c.683C>T 2 240078398 STAD G A Missense p.P284S c.850C>T 2 240066294 LUAD G A Missense p.P352L c.1055C>T 2 240056263 LUAD G A Missense p.P379S c.1135C>T 2 240056100 CM G A Missense p.P424L c.1271C>T 2 240055964 CM G A Missense p.P518L c.1553C>T 2 240036972 HNSC G A Missense p.P676L c.2027C>T 2 240029816 CM G A Missense p.P917L c.2750C>T 2 239990289 NB G A Missense p.R695W c.2083C>T 2 240029760 ESCA G A Missense p.R704C c.2110C>T 2 240024580 PAAD G A Missense p.S442F c.1325C>T 2 240048345 CM G A Missense p.S817F c.2450C>T 2 240005918 CM G A SpliceDonorSNV . c.3073+1G>A 2 239976444 BRCA G A Synonymous p.A235A c.705C>T 2 240078376 COREAD G A Synonymous p.A743A c.2229C>T 2 240016742 ESCA G A Synonymous p.I323I c.969C>T 2 240061389 CM G A Synonymous p.L256L c.766C>T 2 240066378 BRCA G A Synonymous p.L972L c.2916C>T 2 239988490 LUSC G A Synonymous p.P1009P c.3027C>T 2 239976491 LGG G A Synonymous p.P572P c.1716C>T 2 240036809 CM G A Synonymous p.P618P c.1854C>T 2 240033331 CM G A Synonymous p.P618P c.1854C>T 2 240033331 STAD G A Synonymous p.R138R c.414C>T 2 240098185 HNSC G A Synonymous p.R702R c.2106C>T 2 240024584 OV G A Synonymous p.S1016S c.3048C>T 2 239976470 CM G A Synonymous p.S1036S c.3108C>T 2 239975263 LUAD G A Synonymous p.S298S c.894C>T 2 240061464 HNSC G A Synonymous p.T648T c.1944C>T 2 240033241 CM G A Synonymous p.Y859Y c.2577C>T 2 240003858 SCLC G C IntronicSNV . c.23-40090C>G 2 240198450 PIA G C Missense p.L413V c.1237C>G 2 240055998 LUSC G C Missense p.Q499E c.1495C>G 2 240048175 SCLC G C Missense p.Q85E c.253C>G 2 240111615 RCCC G C Missense p.R148G c.442C>G 2 240098157 LUAD GGTGGTTATA - Frameshift p.Y225Rfs*23 c.673_682delTATAACCACC 2 240078399 STAD G T IntronicSNV . c.22+53011C>A 2 240221362 PIA G T Missense p.F746L c.2238C>A 2 240016733 BRCA G T Missense p.L535M c.1603C>A 2 240036922 HC G T Missense p.Q107K c.319C>A 2 240111549 LUSC G T Synonymous p.R574R c.1720C>A 2 240036805 NSCLC G T Synonymous p.V277V c.831C>A 2 240066313 LUAD T A IntronicSNV . c.22+42885A>T 2 240231488 CLL T A Missense p.E1002D c.3006A>T 2 239976512 LUAD T A Missense p.N729Y c.2185A>T 2 240024505 CM T C Missense p.N181D c.541A>G 2 240085569 HC T C Synonymous p.R951R c.2853A>G 2 239990186 HNSC TG GA IntronicBlockSubstitution . c.1-25957_1-25956delinsTC 2 240300350 PIA T G Missense p.H193P c.578A>C 2 240085532 OV