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 7 23163401 23163401 + Silent SNP G G A TCGA-OR-A5K5-01A-11D-A29I-10 TCGA-OR-A5K5-10A-01D-A29L-10 g.chr7:23163401G>A c.126G>A c.(124-126)acG>acA p.T42T BLCA 7 23164704 23164704 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 g.chr7:23164704G>A c.355G>A c.(355-357)Gat>Aat p.D119N BLCA 7 23180423 23180423 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr7:23180423G>A c.478G>A c.(478-480)Gaa>Aaa p.E160K BLCA 7 23183567 23183567 + Nonsense_Mutation SNP C C G TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr7:23183567C>G c.716C>G c.(715-717)tCa>tGa p.S239* BLCA 7 23191746 23191746 + Missense_Mutation SNP G G C TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr7:23191746G>C c.854G>C c.(853-855)aGa>aCa p.R285T BLCA 7 23207528 23207528 + Silent SNP G G T TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chr7:23207528G>T c.1251G>T c.(1249-1251)ctG>ctT p.L417L BLCA 7 23212628 23212628 + Missense_Mutation SNP G G C TCGA-KQ-A41N-01A-11D-A339-08 TCGA-KQ-A41N-10D-01D-A339-08 g.chr7:23212628G>C c.1441G>C c.(1441-1443)Gac>Cac p.D481H BRCA 7 23145676 23145678 + In_Frame_Del DEL AAG AAG - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 g.chr7:23145676_23145678delAAG c.31_33delAAG c.(31-33)aagdel p.K13del BRCA 7 23163424 23163424 + Missense_Mutation SNP T T G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 g.chr7:23163424T>G c.149T>G c.(148-150)gTc>gGc p.V50G BRCA 7 23164391 23164391 + Missense_Mutation SNP A A G TCGA-HN-A2NL-01A-11D-A18P-09 TCGA-HN-A2NL-10A-01D-A18P-09 g.chr7:23164391A>G c.308A>G c.(307-309)tAt>tGt p.Y103C BRCA 7 23180527 23180527 + Silent SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 g.chr7:23180527C>A c.582C>A c.(580-582)ctC>ctA p.L194L BRCA 7 23212573 23212573 + Silent SNP T T G TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 g.chr7:23212573T>G c.1386T>G c.(1384-1386)acT>acG p.T462T BRCA 7 23213710 23213710 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:23213710T>G c.1554T>G c.(1552-1554)ggT>ggG p.G518G BRCA 7 23213889 23213889 + Missense_Mutation SNP G G A TCGA-A8-A09I-01A-22W-A050-09 TCGA-A8-A09I-10A-01W-A055-09 g.chr7:23213889G>A c.1733G>A c.(1732-1734)gGa>gAa p.G578E CESC 7 23164752 23164752 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chr7:23164752G>C c.403G>C c.(403-405)Gat>Cat p.D135H COAD 7 23145763 23145763 + Nonsense_Mutation SNP C C T TCGA-AA-A02W-01A-01W-A00E-09 TCGA-AA-A02W-10A-01W-A00E-09 g.chr7:23145763C>T c.118C>T c.(118-120)Cag>Tag p.Q40* COAD 7 23163401 23163401 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:23163401G>A c.126G>A c.(124-126)acG>acA p.T42T COAD 7 23164666 23164666 + Splice_Site SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:23164666G>T c.e4-1 COAD 7 23180535 23180535 + Missense_Mutation SNP A A G TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr7:23180535A>G c.590A>G c.(589-591)gAc>gGc p.D197G COAD 7 23205532 23205532 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:23205532T>G c.1152T>G c.(1150-1152)atT>atG p.I384M COAD 7 23207602 23207602 + Missense_Mutation SNP A A G TCGA-AA-3685-01A-02W-0900-09 TCGA-AA-3685-10A-01W-0900-09 g.chr7:23207602A>G c.1325A>G c.(1324-1326)aAt>aGt p.N442S COAD 7 23213673 23213673 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:23213673A>G c.1517A>G c.(1516-1518)aAc>aGc p.N506S COADREAD 7 23145763 23145763 + Nonsense_Mutation SNP C C T TCGA-AA-A02W-01A-01W-A00E-09 TCGA-AA-A02W-10A-01W-A00E-09 g.chr7:23145763C>T c.118C>T c.(118-120)Cag>Tag p.Q40* COADREAD 7 23163401 23163401 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:23163401G>A c.126G>A c.(124-126)acG>acA p.T42T COADREAD 7 23164666 23164666 + Splice_Site SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:23164666G>T c.e4-1 COADREAD 7 23180535 23180535 + Missense_Mutation SNP A A G TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr7:23180535A>G c.590A>G c.(589-591)gAc>gGc p.D197G COADREAD 7 23191755 23191755 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:23191755G>T c.863G>T c.(862-864)aGa>aTa p.R288I COADREAD 7 23205532 23205532 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:23205532T>G c.1152T>G c.(1150-1152)atT>atG p.I384M COADREAD 7 23207602 23207602 + Missense_Mutation SNP A A G TCGA-AA-3685-01A-02W-0900-09 TCGA-AA-3685-10A-01W-0900-09 g.chr7:23207602A>G c.1325A>G c.(1324-1326)aAt>aGt p.N442S COADREAD 7 23213673 23213673 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:23213673A>G c.1517A>G c.(1516-1518)aAc>aGc p.N506S DLBC 7 23165412 23165412 + Intron SNP G G A TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr7:23165412G>A DLBC 7 23212627 23212627 + Silent SNP A A G TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr7:23212627A>G c.1440A>G c.(1438-1440)aaA>aaG p.K480K ESCA 7 23164708 23164708 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 g.chr7:23164708C>T c.359C>T c.(358-360)gCa>gTa p.A120V ESCA 7 23180534 23180534 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr7:23180534G>T c.589G>T c.(589-591)Gac>Tac p.D197Y ESCA 7 23183545 23183545 + Missense_Mutation SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 g.chr7:23183545A>G c.694A>G c.(694-696)Aaa>Gaa p.K232E GBM 7 23163411 23163411 + Missense_Mutation SNP G G A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 g.chr7:23163411G>A c.136G>A c.(136-138)Gtg>Atg p.V46M GBMLGG 7 23163411 23163411 + Missense_Mutation SNP G G A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 g.chr7:23163411G>A c.136G>A c.(136-138)Gtg>Atg p.V46M GBMLGG 7 23205476 23205476 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:23205476C>T c.1096C>T c.(1096-1098)Ctg>Ttg p.L366L GBMLGG 7 23213883 23213883 + Missense_Mutation SNP C C G TCGA-P5-A5F4-01A-11D-A289-08 TCGA-P5-A5F4-10A-01D-A289-08 g.chr7:23213883C>G c.1727C>G c.(1726-1728)aCt>aGt p.T576S HNSC 7 23163426 23163426 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 g.chr7:23163426C>G c.151C>G c.(151-153)Cag>Gag p.Q51E HNSC 7 23191773 23191773 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 g.chr7:23191773G>A c.881G>A c.(880-882)cGc>cAc p.R294H HNSC 7 23205333 23205333 + Missense_Mutation SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr7:23205333A>G c.953A>G c.(952-954)gAc>gGc p.D318G HNSC 7 23213806 23213806 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 g.chr7:23213806C>T c.1650C>T c.(1648-1650)acC>acT p.T550T KIPAN 7 23145688 23145688 + Missense_Mutation SNP G G A TCGA-2Z-A9J7-01A-11D-A382-10 TCGA-2Z-A9J7-10A-01D-A385-10 g.chr7:23145688G>A c.43G>A c.(43-45)Gag>Aag p.E15K KIPAN 7 23163475 23163476 + Frame_Shift_Ins INS - - T TCGA-BQ-7059-01A-11D-1961-08 TCGA-BQ-7059-11A-01D-1961-08 g.chr7:23163475_23163476insT c.200_201insT c.(199-204)cattttfs p.HF67fs KIPAN 7 23183605 23183605 + Missense_Mutation SNP C C G TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chr7:23183605C>G c.754C>G c.(754-756)Ctt>Gtt p.L252V KIPAN 7 23191797 23191797 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr7:23191797A>G c.905A>G c.(904-906)cAa>cGa p.Q302R KIPAN 7 23207478 23207478 + Missense_Mutation SNP G G A TCGA-BP-4770-01A-01D-1501-10 TCGA-BP-4770-11A-01D-1501-10 g.chr7:23207478G>A c.1201G>A c.(1201-1203)Gag>Aag p.E401K KIRC 7 23183605 23183605 + Missense_Mutation SNP C C G TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chr7:23183605C>G c.754C>G c.(754-756)Ctt>Gtt p.L252V KIRC 7 23191797 23191797 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr7:23191797A>G c.905A>G c.(904-906)cAa>cGa p.Q302R KIRC 7 23207478 23207478 + Missense_Mutation SNP G G A TCGA-BP-4770-01A-01D-1501-10 TCGA-BP-4770-11A-01D-1501-10 g.chr7:23207478G>A c.1201G>A c.(1201-1203)Gag>Aag p.E401K KIRP 7 23145688 23145688 + Missense_Mutation SNP G G A TCGA-2Z-A9J7-01A-11D-A382-10 TCGA-2Z-A9J7-10A-01D-A385-10 g.chr7:23145688G>A c.43G>A c.(43-45)Gag>Aag p.E15K KIRP 7 23163475 23163476 + Frame_Shift_Ins INS - - T TCGA-BQ-7059-01A-11D-1961-08 TCGA-BQ-7059-11A-01D-1961-08 g.chr7:23163475_23163476insT c.200_201insT c.(199-204)cattttfs p.HF67fs LGG 7 23205476 23205476 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:23205476C>T c.1096C>T c.(1096-1098)Ctg>Ttg p.L366L LGG 7 23213883 23213883 + Missense_Mutation SNP C C G TCGA-P5-A5F4-01A-11D-A289-08 TCGA-P5-A5F4-10A-01D-A289-08 g.chr7:23213883C>G c.1727C>G c.(1726-1728)aCt>aGt p.T576S LIHC 7 23145743 23145743 + Missense_Mutation SNP T T C TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr7:23145743T>C c.98T>C c.(97-99)gTc>gCc p.V33A LIHC 7 23164366 23164366 + Missense_Mutation SNP A A T TCGA-DD-AACL-01A-11D-A40R-10 TCGA-DD-AACL-10A-01D-A40U-10 g.chr7:23164366A>T c.283A>T c.(283-285)Att>Ttt p.I95F LIHC 7 23180386 23180386 + Splice_Site SNP A A G TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr7:23180386A>G c.e5-1 LIHC 7 23207527 23207527 + Missense_Mutation SNP T T C TCGA-DD-A3A7-01A-11D-A22F-10 TCGA-DD-A3A7-11A-11D-A22F-10 g.chr7:23207527T>C c.1250T>C c.(1249-1251)cTg>cCg p.L417P LIHC 7 23212604 23212604 + Missense_Mutation SNP A A C TCGA-DD-AAED-01A-12D-A40R-10 TCGA-DD-AAED-10A-01D-A40U-10 g.chr7:23212604A>C c.1417A>C c.(1417-1419)Aat>Cat p.N473H LUAD 7 23145690 23145690 + Missense_Mutation SNP G G C TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr7:23145690G>C c.45G>C c.(43-45)gaG>gaC p.E15D LUAD 7 23163444 23163444 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 g.chr7:23163444G>T c.169G>T c.(169-171)Gct>Tct p.A57S LUAD 7 23180421 23180421 + Missense_Mutation SNP C C A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr7:23180421C>A c.476C>A c.(475-477)cCt>cAt p.P159H LUAD 7 23180432 23180432 + Missense_Mutation SNP G G A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr7:23180432G>A c.487G>A c.(487-489)Gca>Aca p.A163T LUAD 7 23205404 23205404 + Nonsense_Mutation SNP G G T TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr7:23205404G>T c.1024G>T c.(1024-1026)Gga>Tga p.G342* LUAD 7 23205441 23205441 + Missense_Mutation SNP G G C TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr7:23205441G>C c.1061G>C c.(1060-1062)tGc>tCc p.C354S LUAD 7 23213686 23213686 + Missense_Mutation SNP G G T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr7:23213686G>T c.1530G>T c.(1528-1530)atG>atT p.M510I LUAD 7 23213769 23213769 + Missense_Mutation SNP G G T TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr7:23213769G>T c.1613G>T c.(1612-1614)gGt>gTt p.G538V LUAD 7 23213895 23213895 + Missense_Mutation SNP A A G TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr7:23213895A>G c.1739A>G c.(1738-1740)aAt>aGt p.N580S LUSC 7 23163419 23163419 + Silent SNP C C T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr7:23163419C>T c.144C>T c.(142-144)ctC>ctT p.L48L LUSC 7 23180511 23180511 + Missense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr7:23180511G>T c.566G>T c.(565-567)cGa>cTa p.R189L LUSC 7 23205373 23205373 + Silent SNP C C T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 g.chr7:23205373C>T c.993C>T c.(991-993)tgC>tgT p.C331C LUSC 7 23205516 23205516 + Missense_Mutation SNP C C T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr7:23205516C>T c.1136C>T c.(1135-1137)gCt>gTt p.A379V LUSC 7 23207573 23207573 + Missense_Mutation SNP C C G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 g.chr7:23207573C>G c.1296C>G c.(1294-1296)atC>atG p.I432M LUSC 7 23213843 23213843 + Missense_Mutation SNP G G T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr7:23213843G>T c.1687G>T c.(1687-1689)Gct>Tct p.A563S PAAD 7 23183515 23183515 + Missense_Mutation SNP C C A TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr7:23183515C>A c.664C>A c.(664-666)Cgc>Agc p.R222S PCPG 7 23207596 23207596 + Missense_Mutation SNP G G T TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 g.chr7:23207596G>T c.1319G>T c.(1318-1320)gGa>gTa p.G440V PCPG 7 23213904 23213904 + Missense_Mutation SNP C C A TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 g.chr7:23213904C>A c.1748C>A c.(1747-1749)aCc>aAc p.T583N PRAD 7 23164685 23164685 + Missense_Mutation SNP C C G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 g.chr7:23164685C>G c.336C>G c.(334-336)aaC>aaG p.N112K PRAD 7 23205409 23205409 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:23205409C>T c.1029C>T c.(1027-1029)ggC>ggT p.G343G PRAD 7 23207467 23207468 + Frame_Shift_Del DEL TG TG - TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr7:23207467_23207468delTG c.1190_1191delTG c.(1189-1191)ctgfs p.L397fs PRAD 7 23207656 23207656 + Splice_Site SNP C C G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 g.chr7:23207656C>G c.1379C>G c.(1378-1380)aCa>aGa p.T460R READ 7 23191755 23191755 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:23191755G>T c.863G>T c.(862-864)aGa>aTa p.R288I SKCM 7 23164672 23164672 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr7:23164672C>T c.323C>T c.(322-324)tCc>tTc p.S108F SKCM 7 23164757 23164757 + Silent SNP T T C TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr7:23164757T>C c.408T>C c.(406-408)ttT>ttC p.F136F SKCM 7 23180540 23180540 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 g.chr7:23180540C>G c.595C>G c.(595-597)Ctg>Gtg p.L199V SKCM 7 23183515 23183515 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr7:23183515C>T c.664C>T c.(664-666)Cgc>Tgc p.R222C SKCM 7 23183560 23183560 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr7:23183560C>T c.709C>T c.(709-711)Ctt>Ttt p.L237F SKCM 7 23213840 23213840 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr7:23213840C>T c.1684C>T c.(1684-1686)Cgt>Tgt p.R562C

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 7 23213691 23213691 single base substitution C T 3_prime_UTR_variant BLCA-CN 7 23213691 23213691 single base substitution C T exon_variant BLCA-CN 7 23213691 23213691 single base substitution C T missense_variant S287L 860C>T BLCA-CN 7 23213691 23213691 single base substitution C T missense_variant S436L 1307C>T BLCA-CN 7 23213691 23213691 single base substitution C T missense_variant S464L 1391C>T BLCA-CN 7 23213691 23213691 single base substitution C T missense_variant S490L 1469C>T BLCA-CN 7 23213691 23213691 single base substitution C T missense_variant S512L 1535C>T BLCA-CN 7 23221641 23221641 single base substitution C G downstream_gene_variant BLCA-CN 7 23221693 23221693 single base substitution G A downstream_gene_variant BLCA-US 7 23164704 23164704 single base substitution G A 3_prime_UTR_variant BLCA-US 7 23164704 23164704 single base substitution G A exon_variant BLCA-US 7 23164704 23164704 single base substitution G A intron_variant BLCA-US 7 23164704 23164704 single base substitution G A missense_variant D119N 355G>A BLCA-US 7 23164704 23164704 single base substitution G A missense_variant D43N 127G>A BLCA-US 7 23164704 23164704 single base substitution G A missense_variant D71N 211G>A BLCA-US 7 23164704 23164704 single base substitution G A missense_variant D97N 289G>A BLCA-US 7 23180423 23180423 single base substitution G A 3_prime_UTR_variant BLCA-US 7 23180423 23180423 single base substitution G A 5_prime_UTR_variant BLCA-US 7 23180423 23180423 single base substitution G A downstream_gene_variant BLCA-US 7 23180423 23180423 single base substitution G A exon_variant BLCA-US 7 23180423 23180423 single base substitution G A missense_variant E112K 334G>A BLCA-US 7 23180423 23180423 single base substitution G A missense_variant E138K 412G>A BLCA-US 7 23180423 23180423 single base substitution G A missense_variant E160K 478G>A BLCA-US 7 23180423 23180423 single base substitution G A missense_variant E84K 250G>A BLCA-US 7 23180423 23180423 single base substitution G A upstream_gene_variant BOCA-FR 7 23206273 23206273 single base substitution C A intron_variant BRCA-EU 7 23140463 23140463 single base substitution C G upstream_gene_variant BRCA-EU 7 23141166 23141166 single base substitution G A upstream_gene_variant BRCA-EU 7 23141774 23141774 single base substitution C A upstream_gene_variant BRCA-EU 7 23142135 23142136 deletion of <=200bp AA - upstream_gene_variant BRCA-EU 7 23142575 23142575 single base substitution G C upstream_gene_variant BRCA-EU 7 23144324 23144324 single base substitution A G upstream_gene_variant BRCA-EU 7 23144803 23144803 single base substitution A C upstream_gene_variant BRCA-EU 7 23146076 23146076 single base substitution G T 5_prime_UTR_variant BRCA-EU 7 23146076 23146076 single base substitution G T intron_variant BRCA-EU 7 23146076 23146076 single base substitution G T upstream_gene_variant BRCA-EU 7 23146723 23146723 single base substitution A C intron_variant BRCA-EU 7 23148732 23148732 single base substitution G A intron_variant BRCA-EU 7 23149766 23149766 single base substitution C A intron_variant BRCA-EU 7 23150386 23150386 single base substitution C T intron_variant BRCA-EU 7 23150534 23150534 single base substitution C A intron_variant BRCA-EU 7 23152473 23152473 single base substitution G T intron_variant BRCA-EU 7 23152642 23152642 single base substitution C T intron_variant BRCA-EU 7 23152642 23152642 single base substitution C T upstream_gene_variant BRCA-EU 7 23155157 23155157 single base substitution G T intron_variant BRCA-EU 7 23155157 23155157 single base substitution G T upstream_gene_variant BRCA-EU 7 23155202 23155202 single base substitution G A intron_variant BRCA-EU 7 23155202 23155202 single base substitution G A upstream_gene_variant BRCA-EU 7 23157574 23157574 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 23157574 23157574 single base substitution A G exon_variant BRCA-EU 7 23157574 23157574 single base substitution A G intron_variant BRCA-EU 7 23157574 23157574 single base substitution A G missense_variant I15M 45A>G BRCA-EU 7 23158370 23158370 deletion of <=200bp T - intron_variant BRCA-EU 7 23159347 23159347 deletion of <=200bp T - intron_variant BRCA-EU 7 23160002 23160002 single base substitution G C intron_variant BRCA-EU 7 23160002 23160002 single base substitution G C upstream_gene_variant BRCA-EU 7 23161518 23161518 single base substitution G A intron_variant BRCA-EU 7 23161518 23161518 single base substitution G A upstream_gene_variant BRCA-EU 7 23162274 23162274 single base substitution C T intron_variant BRCA-EU 7 23162274 23162274 single base substitution C T upstream_gene_variant BRCA-EU 7 23162343 23162343 single base substitution C T intron_variant BRCA-EU 7 23162343 23162343 single base substitution C T upstream_gene_variant BRCA-EU 7 23162360 23162360 single base substitution A G intron_variant BRCA-EU 7 23162360 23162360 single base substitution A G upstream_gene_variant BRCA-EU 7 23162479 23162479 single base substitution C G intron_variant BRCA-EU 7 23162479 23162479 single base substitution C G upstream_gene_variant BRCA-EU 7 23166352 23166352 single base substitution C G downstream_gene_variant BRCA-EU 7 23166352 23166352 single base substitution C G intron_variant BRCA-EU 7 23167500 23167500 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 23167500 23167500 deletion of <=200bp A - intron_variant BRCA-EU 7 23168660 23168664 deletion of <=200bp AAAGC - downstream_gene_variant BRCA-EU 7 23168660 23168664 deletion of <=200bp AAAGC - intron_variant BRCA-EU 7 23169578 23169578 single base substitution T G downstream_gene_variant BRCA-EU 7 23169578 23169578 single base substitution T G intron_variant BRCA-EU 7 23170262 23170262 single base substitution C T downstream_gene_variant BRCA-EU 7 23170262 23170262 single base substitution C T intron_variant BRCA-EU 7 23171442 23171442 single base substitution C T intron_variant BRCA-EU 7 23171533 23171533 single base substitution C T intron_variant BRCA-EU 7 23171972 23171972 single base substitution G A intron_variant BRCA-EU 7 23174508 23174508 deletion of <=200bp A - intron_variant BRCA-EU 7 23174877 23174877 single base substitution T A intron_variant BRCA-EU 7 23177516 23177516 single base substitution C A intron_variant BRCA-EU 7 23179844 23179844 single base substitution A T intron_variant BRCA-EU 7 23179844 23179844 single base substitution A T upstream_gene_variant BRCA-EU 7 23180527 23180527 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 23180527 23180527 single base substitution C T 5_prime_UTR_variant BRCA-EU 7 23180527 23180527 single base substitution C T downstream_gene_variant BRCA-EU 7 23180527 23180527 single base substitution C T exon_variant BRCA-EU 7 23180527 23180527 single base substitution C T synonymous_variant L118L 354C>T BRCA-EU 7 23180527 23180527 single base substitution C T synonymous_variant L146L 438C>T BRCA-EU 7 23180527 23180527 single base substitution C T synonymous_variant L172L 516C>T BRCA-EU 7 23180527 23180527 single base substitution C T synonymous_variant L194L 582C>T BRCA-EU 7 23180527 23180527 single base substitution C T upstream_gene_variant BRCA-EU 7 23181035 23181035 single base substitution A C downstream_gene_variant BRCA-EU 7 23181035 23181035 single base substitution A C intron_variant BRCA-EU 7 23181035 23181035 single base substitution A C upstream_gene_variant BRCA-EU 7 23182247 23182247 single base substitution G C downstream_gene_variant BRCA-EU 7 23182247 23182247 single base substitution G C intron_variant BRCA-EU 7 23182247 23182247 single base substitution G C upstream_gene_variant BRCA-EU 7 23183474 23183474 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 23183474 23183474 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 7 23183474 23183474 single base substitution A G downstream_gene_variant BRCA-EU 7 23183474 23183474 single base substitution A G exon_variant BRCA-EU 7 23183474 23183474 single base substitution A G missense_variant Y132C 395A>G BRCA-EU 7 23183474 23183474 single base substitution A G missense_variant Y160C 479A>G BRCA-EU 7 23183474 23183474 single base substitution A G missense_variant Y186C 557A>G BRCA-EU 7 23183474 23183474 single base substitution A G missense_variant Y208C 623A>G BRCA-EU 7 23183474 23183474 single base substitution A G upstream_gene_variant BRCA-EU 7 23183817 23183817 single base substitution C T downstream_gene_variant BRCA-EU 7 23183817 23183817 single base substitution C T intron_variant BRCA-EU 7 23183939 23183939 single base substitution C T downstream_gene_variant BRCA-EU 7 23183939 23183939 single base substitution C T intron_variant BRCA-EU 7 23184578 23184578 single base substitution G A downstream_gene_variant BRCA-EU 7 23184578 23184578 single base substitution G A intron_variant BRCA-EU 7 23186215 23186215 single base substitution T G downstream_gene_variant BRCA-EU 7 23186215 23186215 single base substitution T G intron_variant BRCA-EU 7 23188285 23188285 single base substitution A T downstream_gene_variant BRCA-EU 7 23188285 23188285 single base substitution A T intron_variant BRCA-EU 7 23189521 23189521 single base substitution T C intron_variant BRCA-EU 7 23189648 23189648 single base substitution C T intron_variant BRCA-EU 7 23190291 23190291 single base substitution T C intron_variant BRCA-EU 7 23192758 23192758 single base substitution A G intron_variant BRCA-EU 7 23193594 23193594 single base substitution G A intron_variant BRCA-EU 7 23194352 23194352 single base substitution G A intron_variant BRCA-EU 7 23194865 23194865 single base substitution T G intron_variant BRCA-EU 7 23196891 23196891 single base substitution C T downstream_gene_variant BRCA-EU 7 23196891 23196891 single base substitution C T intron_variant BRCA-EU 7 23197343 23197343 single base substitution C A downstream_gene_variant BRCA-EU 7 23197343 23197343 single base substitution C A intron_variant BRCA-EU 7 23197674 23197674 single base substitution T A downstream_gene_variant BRCA-EU 7 23197674 23197674 single base substitution T A intron_variant BRCA-EU 7 23198527 23198527 single base substitution C A downstream_gene_variant BRCA-EU 7 23198527 23198527 single base substitution C A intron_variant BRCA-EU 7 23198718 23198718 single base substitution A T downstream_gene_variant BRCA-EU 7 23198718 23198718 single base substitution A T intron_variant BRCA-EU 7 23198960 23198960 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 23198960 23198960 deletion of <=200bp T - intron_variant BRCA-EU 7 23200067 23200067 single base substitution A G downstream_gene_variant BRCA-EU 7 23200067 23200067 single base substitution A G intron_variant BRCA-EU 7 23200727 23200727 single base substitution G A downstream_gene_variant BRCA-EU 7 23200727 23200727 single base substitution G A intron_variant BRCA-EU 7 23200727 23200727 single base substitution G A upstream_gene_variant BRCA-EU 7 23201718 23201718 single base substitution G C intron_variant BRCA-EU 7 23201718 23201718 single base substitution G C upstream_gene_variant BRCA-EU 7 23201959 23201959 single base substitution G T intron_variant BRCA-EU 7 23201959 23201959 single base substitution G T upstream_gene_variant BRCA-EU 7 23203183 23203183 single base substitution A G intron_variant BRCA-EU 7 23203183 23203183 single base substitution A G upstream_gene_variant BRCA-EU 7 23203886 23203886 single base substitution G C intron_variant BRCA-EU 7 23203886 23203886 single base substitution G C upstream_gene_variant BRCA-EU 7 23207717 23207717 single base substitution T G exon_variant BRCA-EU 7 23207717 23207717 single base substitution T G intron_variant BRCA-EU 7 23207717 23207717 single base substitution T G upstream_gene_variant BRCA-EU 7 23208865 23208865 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 23208865 23208865 deletion of <=200bp A - intron_variant BRCA-EU 7 23208865 23208865 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 23208921 23208921 single base substitution T C downstream_gene_variant BRCA-EU 7 23208921 23208921 single base substitution T C intron_variant BRCA-EU 7 23208921 23208921 single base substitution T C upstream_gene_variant BRCA-EU 7 23209881 23209881 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 23209881 23209881 deletion of <=200bp T - intron_variant BRCA-EU 7 23209881 23209881 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 23209888 23209888 single base substitution T A downstream_gene_variant BRCA-EU 7 23209888 23209888 single base substitution T A intron_variant BRCA-EU 7 23209888 23209888 single base substitution T A upstream_gene_variant BRCA-EU 7 23209942 23209942 single base substitution G T downstream_gene_variant BRCA-EU 7 23209942 23209942 single base substitution G T intron_variant BRCA-EU 7 23209942 23209942 single base substitution G T upstream_gene_variant BRCA-EU 7 23210801 23210801 single base substitution G A downstream_gene_variant BRCA-EU 7 23210801 23210801 single base substitution G A intron_variant BRCA-EU 7 23210801 23210801 single base substitution G A upstream_gene_variant BRCA-EU 7 23213185 23213185 single base substitution C G intron_variant BRCA-EU 7 23215723 23215723 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 23215723 23215723 single base substitution C T downstream_gene_variant BRCA-EU 7 23216019 23216019 single base substitution T C 3_prime_UTR_variant BRCA-EU 7 23216019 23216019 single base substitution T C downstream_gene_variant BRCA-EU 7 23216246 23216246 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 23216246 23216246 single base substitution G A downstream_gene_variant BRCA-EU 7 23220945 23220945 single base substitution G A downstream_gene_variant BRCA-EU 7 23221612 23221612 single base substitution G A downstream_gene_variant BRCA-EU 7 23221641 23221641 single base substitution C G downstream_gene_variant BRCA-EU 7 23222466 23222466 single base substitution G T downstream_gene_variant BRCA-FR 7 23152473 23152473 single base substitution G T intron_variant BRCA-FR 7 23170262 23170262 single base substitution C T downstream_gene_variant BRCA-FR 7 23170262 23170262 single base substitution C T intron_variant BRCA-FR 7 23174877 23174877 single base substitution T A intron_variant BRCA-FR 7 23176678 23176678 single base substitution C T intron_variant BRCA-FR 7 23181305 23181305 single base substitution G T downstream_gene_variant BRCA-FR 7 23181305 23181305 single base substitution G T intron_variant BRCA-FR 7 23181305 23181305 single base substitution G T upstream_gene_variant BRCA-FR 7 23184578 23184578 single base substitution G A downstream_gene_variant BRCA-FR 7 23184578 23184578 single base substitution G A intron_variant BRCA-FR 7 23191965 23191965 single base substitution G C intron_variant BRCA-FR 7 23200727 23200727 single base substitution G A downstream_gene_variant BRCA-FR 7 23200727 23200727 single base substitution G A intron_variant BRCA-FR 7 23200727 23200727 single base substitution G A upstream_gene_variant BRCA-FR 7 23216292 23216292 single base substitution T A 3_prime_UTR_variant BRCA-FR 7 23216292 23216292 single base substitution T A downstream_gene_variant BRCA-FR 7 23221641 23221641 single base substitution C G downstream_gene_variant BRCA-FR 7 23222466 23222466 single base substitution G T downstream_gene_variant BRCA-KR 7 23164465 23164465 single base substitution C T intron_variant BRCA-KR 7 23164465 23164465 single base substitution C T upstream_gene_variant BRCA-UK 7 23156097 23156097 single base substitution C T intron_variant BRCA-UK 7 23156097 23156097 single base substitution C T upstream_gene_variant BRCA-UK 7 23187752 23187752 single base substitution G A downstream_gene_variant BRCA-UK 7 23187752 23187752 single base substitution G A intron_variant BRCA-UK 7 23188798 23188798 single base substitution G A intron_variant BRCA-UK 7 23191926 23191926 single base substitution G C intron_variant BRCA-UK 7 23194865 23194865 single base substitution T G intron_variant BRCA-UK 7 23198718 23198718 single base substitution A T downstream_gene_variant BRCA-UK 7 23198718 23198718 single base substitution A T intron_variant BRCA-US 7 23145615 23145615 single base substitution G A 5_prime_UTR_variant BRCA-US 7 23145615 23145615 single base substitution G A exon_variant BRCA-US 7 23145615 23145615 single base substitution G A upstream_gene_variant BRCA-US 7 23145676 23145678 deletion of <=200bp AAG - 5_prime_UTR_variant BRCA-US 7 23145676 23145678 deletion of <=200bp AAG - exon_variant BRCA-US 7 23145676 23145678 deletion of <=200bp AAG - inframe_deletion K11 BRCA-US 7 23145676 23145678 deletion of <=200bp AAG - upstream_gene_variant BRCA-US 7 23163424 23163424 single base substitution T G 3_prime_UTR_variant BRCA-US 7 23163424 23163424 single base substitution T G exon_variant BRCA-US 7 23163424 23163424 single base substitution T G intron_variant BRCA-US 7 23163424 23163424 single base substitution T G missense_variant V28G 83T>G BRCA-US 7 23163424 23163424 single base substitution T G missense_variant V2G 5T>G BRCA-US 7 23163424 23163424 single base substitution T G missense_variant V50G 149T>G BRCA-US 7 23163424 23163424 single base substitution T G upstream_gene_variant BRCA-US 7 23180527 23180527 single base substitution C A 3_prime_UTR_variant BRCA-US 7 23180527 23180527 single base substitution C A 5_prime_UTR_variant BRCA-US 7 23180527 23180527 single base substitution C A downstream_gene_variant BRCA-US 7 23180527 23180527 single base substitution C A exon_variant BRCA-US 7 23180527 23180527 single base substitution C A synonymous_variant L118L 354C>A BRCA-US 7 23180527 23180527 single base substitution C A synonymous_variant L146L 438C>A BRCA-US 7 23180527 23180527 single base substitution C A synonymous_variant L172L 516C>A BRCA-US 7 23180527 23180527 single base substitution C A synonymous_variant L194L 582C>A BRCA-US 7 23180527 23180527 single base substitution C A upstream_gene_variant BRCA-US 7 23212573 23212573 single base substitution T G 3_prime_UTR_variant BRCA-US 7 23212573 23212573 single base substitution T G downstream_gene_variant BRCA-US 7 23212573 23212573 single base substitution T G exon_variant BRCA-US 7 23212573 23212573 single base substitution T G synonymous_variant T237T 711T>G BRCA-US 7 23212573 23212573 single base substitution T G synonymous_variant T386T 1158T>G BRCA-US 7 23212573 23212573 single base substitution T G synonymous_variant T414T 1242T>G BRCA-US 7 23212573 23212573 single base substitution T G synonymous_variant T440T 1320T>G BRCA-US 7 23212573 23212573 single base substitution T G synonymous_variant T462T 1386T>G BRCA-US 7 23213710 23213710 single base substitution T G 3_prime_UTR_variant BRCA-US 7 23213710 23213710 single base substitution T G exon_variant BRCA-US 7 23213710 23213710 single base substitution T G synonymous_variant G293G 879T>G BRCA-US 7 23213710 23213710 single base substitution T G synonymous_variant G442G 1326T>G BRCA-US 7 23213710 23213710 single base substitution T G synonymous_variant G470G 1410T>G BRCA-US 7 23213710 23213710 single base substitution T G synonymous_variant G496G 1488T>G BRCA-US 7 23213710 23213710 single base substitution T G synonymous_variant G518G 1554T>G BRCA-US 7 23213889 23213889 single base substitution G A 3_prime_UTR_variant BRCA-US 7 23213889 23213889 single base substitution G A downstream_gene_variant BRCA-US 7 23213889 23213889 single base substitution G A missense_variant G353E 1058G>A BRCA-US 7 23213889 23213889 single base substitution G A missense_variant G502E 1505G>A BRCA-US 7 23213889 23213889 single base substitution G A missense_variant G530E 1589G>A BRCA-US 7 23213889 23213889 single base substitution G A missense_variant G556E 1667G>A BRCA-US 7 23213889 23213889 single base substitution G A missense_variant G578E 1733G>A BTCA-JP 7 23145666 23145666 single base substitution G A 5_prime_UTR_variant BTCA-JP 7 23145666 23145666 single base substitution G A exon_variant BTCA-JP 7 23145666 23145666 single base substitution G A synonymous_variant E7E 21G>A BTCA-JP 7 23145666 23145666 single base substitution G A upstream_gene_variant BTCA-JP 7 23205431 23205431 single base substitution C T 3_prime_UTR_variant BTCA-JP 7 23205431 23205431 single base substitution C T stop_gained R126* 376C>T BTCA-JP 7 23205431 23205431 single base substitution C T stop_gained R275* 823C>T BTCA-JP 7 23205431 23205431 single base substitution C T stop_gained R303* 907C>T BTCA-JP 7 23205431 23205431 single base substitution C T stop_gained R329* 985C>T BTCA-JP 7 23205431 23205431 single base substitution C T stop_gained R351* 1051C>T BTCA-JP 7 23205431 23205431 single base substitution C T upstream_gene_variant BTCA-JP 7 23213664 23213664 single base substitution T G 3_prime_UTR_variant BTCA-JP 7 23213664 23213664 single base substitution T G exon_variant BTCA-JP 7 23213664 23213664 single base substitution T G missense_variant I278S 833T>G BTCA-JP 7 23213664 23213664 single base substitution T G missense_variant I427S 1280T>G BTCA-JP 7 23213664 23213664 single base substitution T G missense_variant I455S 1364T>G BTCA-JP 7 23213664 23213664 single base substitution T G missense_variant I481S 1442T>G BTCA-JP 7 23213664 23213664 single base substitution T G missense_variant I503S 1508T>G CESC-US 7 23164752 23164752 single base substitution G C 3_prime_UTR_variant CESC-US 7 23164752 23164752 single base substitution G C exon_variant CESC-US 7 23164752 23164752 single base substitution G C intron_variant CESC-US 7 23164752 23164752 single base substitution G C missense_variant D113H 337G>C CESC-US 7 23164752 23164752 single base substitution G C missense_variant D135H 403G>C CESC-US 7 23164752 23164752 single base substitution G C missense_variant D59H 175G>C CESC-US 7 23164752 23164752 single base substitution G C missense_variant D87H 259G>C CLLE-ES 7 23157744 23157744 single base substitution C T intron_variant CLLE-ES 7 23162093 23162093 single base substitution A G intron_variant CLLE-ES 7 23162093 23162093 single base substitution A G upstream_gene_variant CLLE-ES 7 23208006 23208006 single base substitution T C downstream_gene_variant CLLE-ES 7 23208006 23208006 single base substitution T C intron_variant CLLE-ES 7 23208006 23208006 single base substitution T C upstream_gene_variant COAD-US 7 23221797 23221797 insertion of <=200bp - CGGCAGCAACCG downstream_gene_variant COCA-CN 7 23144947 23144947 single base substitution T C upstream_gene_variant COCA-CN 7 23163475 23163475 single base substitution A G 3_prime_UTR_variant COCA-CN 7 23163475 23163475 single base substitution A G exon_variant COCA-CN 7 23163475 23163475 single base substitution A G intron_variant COCA-CN 7 23163475 23163475 single base substitution A G missense_variant H19R 56A>G COCA-CN 7 23163475 23163475 single base substitution A G missense_variant H45R 134A>G COCA-CN 7 23163475 23163475 single base substitution A G missense_variant H67R 200A>G COCA-CN 7 23163475 23163475 single base substitution A G upstream_gene_variant COCA-CN 7 23164617 23164617 single base substitution A G exon_variant COCA-CN 7 23164617 23164617 single base substitution A G intron_variant COCA-CN 7 23168843 23168843 single base substitution A C downstream_gene_variant COCA-CN 7 23168843 23168843 single base substitution A C intron_variant COCA-CN 7 23180378 23180378 single base substitution C A intron_variant COCA-CN 7 23180378 23180378 single base substitution C A upstream_gene_variant COCA-CN 7 23183621 23183621 single base substitution C A 3_prime_UTR_variant COCA-CN 7 23183621 23183621 single base substitution C A downstream_gene_variant COCA-CN 7 23183621 23183621 single base substitution C A missense_variant P181H 542C>A COCA-CN 7 23183621 23183621 single base substitution C A missense_variant P209H 626C>A COCA-CN 7 23183621 23183621 single base substitution C A missense_variant P235H 704C>A COCA-CN 7 23183621 23183621 single base substitution C A missense_variant P257H 770C>A COCA-CN 7 23183621 23183621 single base substitution C A missense_variant P25H 74C>A COCA-CN 7 23183621 23183621 single base substitution C A missense_variant P32H 95C>A COCA-CN 7 23186444 23186444 single base substitution T A downstream_gene_variant COCA-CN 7 23186444 23186444 single base substitution T A intron_variant COCA-CN 7 23187534 23187534 single base substitution G T downstream_gene_variant COCA-CN 7 23187534 23187534 single base substitution G T intron_variant COCA-CN 7 23191492 23191492 single base substitution A G intron_variant COCA-CN 7 23191499 23191499 single base substitution G T intron_variant COCA-CN 7 23210893 23210893 single base substitution T A downstream_gene_variant COCA-CN 7 23210893 23210893 single base substitution T A intron_variant COCA-CN 7 23210893 23210893 single base substitution T A upstream_gene_variant COCA-CN 7 23211710 23211710 single base substitution T G downstream_gene_variant COCA-CN 7 23211710 23211710 single base substitution T G intron_variant COCA-CN 7 23211710 23211710 single base substitution T G upstream_gene_variant COCA-CN 7 23211771 23211771 single base substitution C T downstream_gene_variant COCA-CN 7 23211771 23211771 single base substitution C T intron_variant COCA-CN 7 23211771 23211771 single base substitution C T upstream_gene_variant COCA-CN 7 23212520 23212520 single base substitution C A downstream_gene_variant COCA-CN 7 23212520 23212520 single base substitution C A exon_variant COCA-CN 7 23212520 23212520 single base substitution C A intron_variant COCA-CN 7 23213692 23213692 single base substitution A G 3_prime_UTR_variant COCA-CN 7 23213692 23213692 single base substitution A G exon_variant COCA-CN 7 23213692 23213692 single base substitution A G synonymous_variant S287S 861A>G COCA-CN 7 23213692 23213692 single base substitution A G synonymous_variant S436S 1308A>G COCA-CN 7 23213692 23213692 single base substitution A G synonymous_variant S464S 1392A>G COCA-CN 7 23213692 23213692 single base substitution A G synonymous_variant S490S 1470A>G COCA-CN 7 23213692 23213692 single base substitution A G synonymous_variant S512S 1536A>G COCA-CN 7 23213807 23213807 single base substitution G A 3_prime_UTR_variant COCA-CN 7 23213807 23213807 single base substitution G A exon_variant COCA-CN 7 23213807 23213807 single base substitution G A missense_variant E326K 976G>A COCA-CN 7 23213807 23213807 single base substitution G A missense_variant E475K 1423G>A COCA-CN 7 23213807 23213807 single base substitution G A missense_variant E503K 1507G>A COCA-CN 7 23213807 23213807 single base substitution G A missense_variant E529K 1585G>A COCA-CN 7 23213807 23213807 single base substitution G A missense_variant E551K 1651G>A COCA-CN 7 23215723 23215723 single base substitution C T 3_prime_UTR_variant COCA-CN 7 23215723 23215723 single base substitution C T downstream_gene_variant COCA-CN 7 23217333 23217333 single base substitution C T 3_prime_UTR_variant COCA-CN 7 23217333 23217333 single base substitution C T downstream_gene_variant ESAD-UK 7 23142398 23142398 single base substitution A C upstream_gene_variant ESAD-UK 7 23143264 23143264 single base substitution C T upstream_gene_variant ESAD-UK 7 23143967 23143967 single base substitution T G upstream_gene_variant ESAD-UK 7 23144130 23144130 single base substitution T C upstream_gene_variant ESAD-UK 7 23144933 23144933 single base substitution G A upstream_gene_variant ESAD-UK 7 23145281 23145281 single base substitution C A upstream_gene_variant ESAD-UK 7 23150480 23150480 single base substitution C T intron_variant ESAD-UK 7 23153453 23153453 single base substitution C A intron_variant ESAD-UK 7 23153453 23153453 single base substitution C A upstream_gene_variant ESAD-UK 7 23155387 23155387 single base substitution C G intron_variant ESAD-UK 7 23155387 23155387 single base substitution C G upstream_gene_variant ESAD-UK 7 23155460 23155460 single base substitution C T intron_variant ESAD-UK 7 23155460 23155460 single base substitution C T upstream_gene_variant ESAD-UK 7 23155587 23155587 single base substitution G T intron_variant ESAD-UK 7 23155587 23155587 single base substitution G T upstream_gene_variant ESAD-UK 7 23155743 23155743 single base substitution A C intron_variant ESAD-UK 7 23155743 23155743 single base substitution A C upstream_gene_variant ESAD-UK 7 23155839 23155839 single base substitution G C intron_variant ESAD-UK 7 23155839 23155839 single base substitution G C upstream_gene_variant ESAD-UK 7 23156009 23156009 single base substitution G A intron_variant ESAD-UK 7 23156009 23156009 single base substitution G A upstream_gene_variant ESAD-UK 7 23156212 23156212 single base substitution G A intron_variant ESAD-UK 7 23156212 23156212 single base substitution G A upstream_gene_variant ESAD-UK 7 23156863 23156863 single base substitution C T intron_variant ESAD-UK 7 23156863 23156863 single base substitution C T upstream_gene_variant ESAD-UK 7 23157703 23157703 single base substitution T A intron_variant ESAD-UK 7 23160015 23160015 single base substitution T A intron_variant ESAD-UK 7 23160015 23160015 single base substitution T A upstream_gene_variant ESAD-UK 7 23160392 23160392 single base substitution C G intron_variant ESAD-UK 7 23160392 23160392 single base substitution C G upstream_gene_variant ESAD-UK 7 23161735 23161735 single base substitution G C intron_variant ESAD-UK 7 23161735 23161735 single base substitution G C upstream_gene_variant ESAD-UK 7 23162638 23162638 single base substitution T A intron_variant ESAD-UK 7 23162638 23162638 single base substitution T A upstream_gene_variant ESAD-UK 7 23162648 23162648 single base substitution A G intron_variant ESAD-UK 7 23162648 23162648 single base substitution A G upstream_gene_variant ESAD-UK 7 23165760 23165760 single base substitution T C downstream_gene_variant ESAD-UK 7 23165760 23165760 single base substitution T C intron_variant ESAD-UK 7 23167864 23167864 single base substitution C T downstream_gene_variant ESAD-UK 7 23167864 23167864 single base substitution C T intron_variant ESAD-UK 7 23169833 23169833 insertion of <=200bp - T downstream_gene_variant ESAD-UK 7 23169833 23169833 insertion of <=200bp - T intron_variant ESAD-UK 7 23170613 23170613 single base substitution T G downstream_gene_variant ESAD-UK 7 23170613 23170613 single base substitution T G intron_variant ESAD-UK 7 23170683 23170683 single base substitution G A intron_variant ESAD-UK 7 23171037 23171037 single base substitution A C intron_variant ESAD-UK 7 23172827 23172827 single base substitution T C intron_variant ESAD-UK 7 23173077 23173077 single base substitution G A intron_variant ESAD-UK 7 23176595 23176595 deletion of <=200bp A - intron_variant ESAD-UK 7 23179783 23179783 single base substitution A T intron_variant ESAD-UK 7 23179783 23179783 single base substitution A T upstream_gene_variant ESAD-UK 7 23180024 23180024 single base substitution A C intron_variant ESAD-UK 7 23180024 23180024 single base substitution A C upstream_gene_variant ESAD-UK 7 23180163 23180163 single base substitution G A intron_variant ESAD-UK 7 23180163 23180163 single base substitution G A upstream_gene_variant ESAD-UK 7 23180208 23180208 single base substitution C A intron_variant ESAD-UK 7 23180208 23180208 single base substitution C A upstream_gene_variant ESAD-UK 7 23181373 23181373 single base substitution C T downstream_gene_variant ESAD-UK 7 23181373 23181373 single base substitution C T intron_variant ESAD-UK 7 23181373 23181373 single base substitution C T upstream_gene_variant ESAD-UK 7 23181924 23181924 single base substitution A G downstream_gene_variant ESAD-UK 7 23181924 23181924 single base substitution A G intron_variant ESAD-UK 7 23181924 23181924 single base substitution A G upstream_gene_variant ESAD-UK 7 23182895 23182895 single base substitution G A downstream_gene_variant ESAD-UK 7 23182895 23182895 single base substitution G A intron_variant ESAD-UK 7 23182895 23182895 single base substitution G A upstream_gene_variant ESAD-UK 7 23189420 23189420 single base substitution G A intron_variant ESAD-UK 7 23190707 23190707 single base substitution G A intron_variant ESAD-UK 7 23190732 23190732 single base substitution A G intron_variant ESAD-UK 7 23194375 23194375 single base substitution C T intron_variant ESAD-UK 7 23195728 23195728 single base substitution A T 3_prime_UTR_variant ESAD-UK 7 23195728 23195728 single base substitution A T intron_variant ESAD-UK 7 23195854 23195854 single base substitution A G downstream_gene_variant ESAD-UK 7 23195854 23195854 single base substitution A G intron_variant ESAD-UK 7 23197804 23197804 single base substitution T G downstream_gene_variant ESAD-UK 7 23197804 23197804 single base substitution T G intron_variant ESAD-UK 7 23198960 23198960 single base substitution T A downstream_gene_variant ESAD-UK 7 23198960 23198960 single base substitution T A intron_variant ESAD-UK 7 23199118 23199118 single base substitution C G downstream_gene_variant ESAD-UK 7 23199118 23199118 single base substitution C G intron_variant ESAD-UK 7 23199421 23199421 single base substitution T G downstream_gene_variant ESAD-UK 7 23199421 23199421 single base substitution T G intron_variant ESAD-UK 7 23200127 23200127 single base substitution T C downstream_gene_variant ESAD-UK 7 23200127 23200127 single base substitution T C intron_variant ESAD-UK 7 23200182 23200182 single base substitution A C downstream_gene_variant ESAD-UK 7 23200182 23200182 single base substitution A C intron_variant ESAD-UK 7 23202548 23202548 single base substitution C T intron_variant ESAD-UK 7 23202548 23202548 single base substitution C T upstream_gene_variant ESAD-UK 7 23206800 23206800 single base substitution T A intron_variant ESAD-UK 7 23206943 23206943 single base substitution G T intron_variant ESAD-UK 7 23207131 23207131 single base substitution G A intron_variant ESAD-UK 7 23209690 23209690 single base substitution G A downstream_gene_variant ESAD-UK 7 23209690 23209690 single base substitution G A intron_variant ESAD-UK 7 23209690 23209690 single base substitution G A upstream_gene_variant ESAD-UK 7 23211518 23211518 single base substitution C T downstream_gene_variant ESAD-UK 7 23211518 23211518 single base substitution C T intron_variant ESAD-UK 7 23211518 23211518 single base substitution C T upstream_gene_variant ESAD-UK 7 23211831 23211831 single base substitution A G downstream_gene_variant ESAD-UK 7 23211831 23211831 single base substitution A G intron_variant ESAD-UK 7 23211831 23211831 single base substitution A G upstream_gene_variant ESAD-UK 7 23212313 23212313 single base substitution T C downstream_gene_variant ESAD-UK 7 23212313 23212313 single base substitution T C intron_variant ESAD-UK 7 23212313 23212313 single base substitution T C upstream_gene_variant ESAD-UK 7 23213804 23213804 single base substitution A G 3_prime_UTR_variant ESAD-UK 7 23213804 23213804 single base substitution A G exon_variant ESAD-UK 7 23213804 23213804 single base substitution A G missense_variant T325A 973A>G ESAD-UK 7 23213804 23213804 single base substitution A G missense_variant T474A 1420A>G ESAD-UK 7 23213804 23213804 single base substitution A G missense_variant T502A 1504A>G ESAD-UK 7 23213804 23213804 single base substitution A G missense_variant T528A 1582A>G ESAD-UK 7 23213804 23213804 single base substitution A G missense_variant T550A 1648A>G ESAD-UK 7 23216576 23216576 single base substitution G C 3_prime_UTR_variant ESAD-UK 7 23216576 23216576 single base substitution G C downstream_gene_variant ESAD-UK 7 23218169 23218169 single base substitution T C downstream_gene_variant ESAD-UK 7 23219081 23219081 single base substitution C T downstream_gene_variant ESAD-UK 7 23221857 23221857 single base substitution G A downstream_gene_variant ESCA-CN 7 23191897 23191897 single base substitution A G intron_variant GBM-US 7 23163411 23163411 single base substitution G A 3_prime_UTR_variant GBM-US 7 23163411 23163411 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant GBM-US 7 23163411 23163411 single base substitution G A exon_variant GBM-US 7 23163411 23163411 single base substitution G A intron_variant GBM-US 7 23163411 23163411 single base substitution G A missense_variant V24M 70G>A GBM-US 7 23163411 23163411 single base substitution G A missense_variant V46M 136G>A GBM-US 7 23163411 23163411 single base substitution G A upstream_gene_variant KIRC-US 7 23183605 23183605 single base substitution C G 3_prime_UTR_variant KIRC-US 7 23183605 23183605 single base substitution C G downstream_gene_variant KIRC-US 7 23183605 23183605 single base substitution C G missense_variant L176V 526C>G KIRC-US 7 23183605 23183605 single base substitution C G missense_variant L204V 610C>G KIRC-US 7 23183605 23183605 single base substitution C G missense_variant L20V 58C>G KIRC-US 7 23183605 23183605 single base substitution C G missense_variant L230V 688C>G KIRC-US 7 23183605 23183605 single base substitution C G missense_variant L252V 754C>G KIRC-US 7 23183605 23183605 single base substitution C G missense_variant L27V 79C>G KIRC-US 7 23207478 23207478 single base substitution G A 3_prime_UTR_variant KIRC-US 7 23207478 23207478 single base substitution G A exon_variant KIRC-US 7 23207478 23207478 single base substitution G A missense_variant E176K 526G>A KIRC-US 7 23207478 23207478 single base substitution G A missense_variant E325K 973G>A KIRC-US 7 23207478 23207478 single base substitution G A missense_variant E353K 1057G>A KIRC-US 7 23207478 23207478 single base substitution G A missense_variant E379K 1135G>A KIRC-US 7 23207478 23207478 single base substitution G A missense_variant E401K 1201G>A KIRC-US 7 23207478 23207478 single base substitution G A upstream_gene_variant KIRC-US 7 23221797 23221797 insertion of <=200bp - CGGCAGCAACCG downstream_gene_variant KIRC-US 7 23221811 23221811 single base substitution A G downstream_gene_variant KIRP-US 7 23163475 23163475 insertion of <=200bp - T 3_prime_UTR_variant KIRP-US 7 23163475 23163475 insertion of <=200bp - T exon_variant KIRP-US 7 23163475 23163475 insertion of <=200bp - T frameshift_variant H19L? KIRP-US 7 23163475 23163475 insertion of <=200bp - T frameshift_variant H45L? KIRP-US 7 23163475 23163475 insertion of <=200bp - T frameshift_variant H67L? KIRP-US 7 23163475 23163475 insertion of <=200bp - T intron_variant KIRP-US 7 23163475 23163475 insertion of <=200bp - T upstream_gene_variant LAML-KR 7 23178061 23178061 single base substitution A G intron_variant LAML-KR 7 23181569 23181569 single base substitution A G downstream_gene_variant LAML-KR 7 23181569 23181569 single base substitution A G intron_variant LAML-KR 7 23181569 23181569 single base substitution A G upstream_gene_variant LAML-KR 7 23210870 23210870 single base substitution G A downstream_gene_variant LAML-KR 7 23210870 23210870 single base substitution G A intron_variant LAML-KR 7 23210870 23210870 single base substitution G A upstream_gene_variant LAML-KR 7 23215625 23215625 single base substitution C G 3_prime_UTR_variant LAML-KR 7 23215625 23215625 single base substitution C G downstream_gene_variant LAML-KR 7 23222464 23222464 single base substitution T G downstream_gene_variant LGG-US 7 23213883 23213883 single base substitution C G 3_prime_UTR_variant LGG-US 7 23213883 23213883 single base substitution C G downstream_gene_variant LGG-US 7 23213883 23213883 single base substitution C G missense_variant T351S 1052C>G LGG-US 7 23213883 23213883 single base substitution C G missense_variant T500S 1499C>G LGG-US 7 23213883 23213883 single base substitution C G missense_variant T528S 1583C>G LGG-US 7 23213883 23213883 single base substitution C G missense_variant T554S 1661C>G LGG-US 7 23213883 23213883 single base substitution C G missense_variant T576S 1727C>G LICA-CN 7 23164327 23164327 single base substitution T A 3_prime_UTR_variant LICA-CN 7 23164327 23164327 single base substitution T A exon_variant LICA-CN 7 23164327 23164327 single base substitution T A intron_variant LICA-CN 7 23164327 23164327 single base substitution T A missense_variant S34T 100T>A LICA-CN 7 23164327 23164327 single base substitution T A missense_variant S60T 178T>A LICA-CN 7 23164327 23164327 single base substitution T A missense_variant S6T 16T>A LICA-CN 7 23164327 23164327 single base substitution T A missense_variant S82T 244T>A LICA-CN 7 23164327 23164327 single base substitution T A upstream_gene_variant LICA-FR 7 23146214 23146214 deletion of <=200bp C - 5_prime_UTR_variant LICA-FR 7 23146214 23146214 deletion of <=200bp C - intron_variant LICA-FR 7 23146214 23146214 deletion of <=200bp C - upstream_gene_variant LICA-FR 7 23154988 23154988 single base substitution A G intron_variant LICA-FR 7 23154988 23154988 single base substitution A G upstream_gene_variant LICA-FR 7 23163756 23163756 single base substitution G C intron_variant LICA-FR 7 23163756 23163756 single base substitution G C upstream_gene_variant LICA-FR 7 23169347 23169347 single base substitution A G downstream_gene_variant LICA-FR 7 23169347 23169347 single base substitution A G intron_variant LICA-FR 7 23177373 23177516 deletion of <=200bp CAGGCATGAGCCACCACGCCTGGCCAGGTTTTATGCTTTTTAAGACAATTTTGGGCTGGGCACGGTGACTCCTAAAATGCTGGGATTACAGGCATAAACCACTGTGCCCAGCCCAAAATTGTCTTAAAAAGCATAAAACCTGGC - intron_variant LICA-FR 7 23190613 23190613 single base substitution A G intron_variant LICA-FR 7 23202522 23202522 single base substitution A G intron_variant LICA-FR 7 23202522 23202522 single base substitution A G upstream_gene_variant LICA-FR 7 23209693 23209693 single base substitution C T downstream_gene_variant LICA-FR 7 23209693 23209693 single base substitution C T intron_variant LICA-FR 7 23209693 23209693 single base substitution C T upstream_gene_variant LICA-FR 7 23210527 23210527 insertion of <=200bp - T downstream_gene_variant LICA-FR 7 23210527 23210527 insertion of <=200bp - T intron_variant LICA-FR 7 23210527 23210527 insertion of <=200bp - T upstream_gene_variant LIHC-US 7 23207527 23207527 single base substitution T C 3_prime_UTR_variant LIHC-US 7 23207527 23207527 single base substitution T C exon_variant LIHC-US 7 23207527 23207527 single base substitution T C missense_variant L192P 575T>C LIHC-US 7 23207527 23207527 single base substitution T C missense_variant L341P 1022T>C LIHC-US 7 23207527 23207527 single base substitution T C missense_variant L369P 1106T>C LIHC-US 7 23207527 23207527 single base substitution T C missense_variant L395P 1184T>C LIHC-US 7 23207527 23207527 single base substitution T C missense_variant L417P 1250T>C LIHC-US 7 23207527 23207527 single base substitution T C upstream_gene_variant LINC-JP 7 23161700 23161700 single base substitution T A intron_variant LINC-JP 7 23161700 23161700 single base substitution T A upstream_gene_variant LINC-JP 7 23165048 23165048 single base substitution G A 3_prime_UTR_variant LINC-JP 7 23165048 23165048 single base substitution G A downstream_gene_variant LINC-JP 7 23165048 23165048 single base substitution G A intron_variant LINC-JP 7 23178801 23178801 single base substitution T C intron_variant LINC-JP 7 23178801 23178801 single base substitution T C upstream_gene_variant LINC-JP 7 23188730 23188730 single base substitution A C intron_variant LINC-JP 7 23194720 23194720 single base substitution A G intron_variant LINC-JP 7 23201658 23201658 single base substitution G A intron_variant LINC-JP 7 23201658 23201658 single base substitution G A upstream_gene_variant LINC-JP 7 23212853 23212853 single base substitution A G intron_variant LIRI-JP 7 23143050 23143050 single base substitution G A upstream_gene_variant LIRI-JP 7 23144237 23144237 single base substitution C A upstream_gene_variant LIRI-JP 7 23144925 23144925 single base substitution G A upstream_gene_variant LIRI-JP 7 23147409 23147409 single base substitution A G intron_variant LIRI-JP 7 23149322 23149322 single base substitution G T intron_variant LIRI-JP 7 23149450 23149450 single base substitution A T intron_variant LIRI-JP 7 23149779 23149779 single base substitution C T intron_variant LIRI-JP 7 23152085 23152085 single base substitution C G intron_variant LIRI-JP 7 23152167 23152167 single base substitution A G intron_variant LIRI-JP 7 23152580 23152580 single base substitution A C intron_variant LIRI-JP 7 23152580 23152580 single base substitution A C upstream_gene_variant LIRI-JP 7 23153869 23153869 single base substitution G T intron_variant LIRI-JP 7 23153869 23153869 single base substitution G T upstream_gene_variant LIRI-JP 7 23158355 23158355 single base substitution C A intron_variant LIRI-JP 7 23160216 23160216 single base substitution T A intron_variant LIRI-JP 7 23160216 23160216 single base substitution T A upstream_gene_variant LIRI-JP 7 23161979 23161979 single base substitution C T intron_variant LIRI-JP 7 23161979 23161979 single base substitution C T upstream_gene_variant LIRI-JP 7 23162355 23162355 single base substitution C T intron_variant LIRI-JP 7 23162355 23162355 single base substitution C T upstream_gene_variant LIRI-JP 7 23162404 23162404 single base substitution A G intron_variant LIRI-JP 7 23162404 23162404 single base substitution A G upstream_gene_variant LIRI-JP 7 23162699 23162699 deletion of <=200bp T - intron_variant LIRI-JP 7 23162699 23162699 deletion of <=200bp T - upstream_gene_variant LIRI-JP 7 23166321 23166321 single base substitution G A downstream_gene_variant LIRI-JP 7 23166321 23166321 single base substitution G A intron_variant LIRI-JP 7 23166371 23166371 deletion of <=200bp A - downstream_gene_variant LIRI-JP 7 23166371 23166371 deletion of <=200bp A - intron_variant LIRI-JP 7 23167353 23167353 single base substitution C T downstream_gene_variant LIRI-JP 7 23167353 23167353 single base substitution C T intron_variant LIRI-JP 7 23170406 23170409 deletion of <=200bp AAAG - downstream_gene_variant LIRI-JP 7 23170406 23170409 deletion of <=200bp AAAG - intron_variant LIRI-JP 7 23170810 23170810 single base substitution G A intron_variant LIRI-JP 7 23172536 23172536 single base substitution A G intron_variant LIRI-JP 7 23174516 23174516 single base substitution A T intron_variant LIRI-JP 7 23174749 23174749 single base substitution G A intron_variant LIRI-JP 7 23175535 23175535 single base substitution A T intron_variant LIRI-JP 7 23176521 23176521 single base substitution A G intron_variant LIRI-JP 7 23176713 23176713 single base substitution G T intron_variant LIRI-JP 7 23180788 23180788 single base substitution G T downstream_gene_variant LIRI-JP 7 23180788 23180788 single base substitution G T intron_variant LIRI-JP 7 23180788 23180788 single base substitution G T upstream_gene_variant LIRI-JP 7 23183063 23183063 single base substitution A G downstream_gene_variant LIRI-JP 7 23183063 23183063 single base substitution A G intron_variant LIRI-JP 7 23183063 23183063 single base substitution A G upstream_gene_variant LIRI-JP 7 23183076 23183076 single base substitution G C downstream_gene_variant LIRI-JP 7 23183076 23183076 single base substitution G C intron_variant LIRI-JP 7 23183076 23183076 single base substitution G C upstream_gene_variant LIRI-JP 7 23183117 23183117 single base substitution C A downstream_gene_variant LIRI-JP 7 23183117 23183117 single base substitution C A intron_variant LIRI-JP 7 23183117 23183117 single base substitution C A upstream_gene_variant LIRI-JP 7 23185755 23185755 single base substitution A G downstream_gene_variant LIRI-JP 7 23185755 23185755 single base substitution A G intron_variant LIRI-JP 7 23187155 23187155 single base substitution T C downstream_gene_variant LIRI-JP 7 23187155 23187155 single base substitution T C intron_variant LIRI-JP 7 23187832 23187832 single base substitution G A downstream_gene_variant LIRI-JP 7 23187832 23187832 single base substitution G A intron_variant LIRI-JP 7 23191880 23191880 single base substitution A G intron_variant LIRI-JP 7 23193994 23193994 single base substitution A C intron_variant LIRI-JP 7 23195748 23195748 single base substitution A C 3_prime_UTR_variant LIRI-JP 7 23195748 23195748 single base substitution A C intron_variant LIRI-JP 7 23196549 23196549 single base substitution G A downstream_gene_variant LIRI-JP 7 23196549 23196549 single base substitution G A intron_variant LIRI-JP 7 23197647 23197647 single base substitution C T downstream_gene_variant LIRI-JP 7 23197647 23197647 single base substitution C T intron_variant LIRI-JP 7 23199788 23199788 single base substitution A G downstream_gene_variant LIRI-JP 7 23199788 23199788 single base substitution A G intron_variant LIRI-JP 7 23201311 23201311 single base substitution G A intron_variant LIRI-JP 7 23201311 23201311 single base substitution G A upstream_gene_variant LIRI-JP 7 23201312 23201312 single base substitution G T intron_variant LIRI-JP 7 23201312 23201312 single base substitution G T upstream_gene_variant LIRI-JP 7 23205693 23205693 single base substitution T C intron_variant LIRI-JP 7 23206710 23206710 single base substitution A G intron_variant LIRI-JP 7 23209022 23209022 single base substitution A G downstream_gene_variant LIRI-JP 7 23209022 23209022 single base substitution A G intron_variant LIRI-JP 7 23209022 23209022 single base substitution A G upstream_gene_variant LIRI-JP 7 23213673 23213673 single base substitution A G 3_prime_UTR_variant LIRI-JP 7 23213673 23213673 single base substitution A G exon_variant LIRI-JP 7 23213673 23213673 single base substitution A G missense_variant N281S 842A>G LIRI-JP 7 23213673 23213673 single base substitution A G missense_variant N430S 1289A>G LIRI-JP 7 23213673 23213673 single base substitution A G missense_variant N458S 1373A>G LIRI-JP 7 23213673 23213673 single base substitution A G missense_variant N484S 1451A>G LIRI-JP 7 23213673 23213673 single base substitution A G missense_variant N506S 1517A>G LIRI-JP 7 23217335 23217335 single base substitution G T 3_prime_UTR_variant LIRI-JP 7 23217335 23217335 single base substitution G T downstream_gene_variant LIRI-JP 7 23217884 23217884 single base substitution T G downstream_gene_variant LIRI-JP 7 23219145 23219145 single base substitution A C downstream_gene_variant LIRI-JP 7 23220085 23220085 single base substitution A G downstream_gene_variant LIRI-JP 7 23220849 23220849 single base substitution G A downstream_gene_variant LIRI-JP 7 23222120 23222120 single base substitution A G downstream_gene_variant LUSC-KR 7 23143624 23143624 single base substitution C A upstream_gene_variant LUSC-KR 7 23145837 23145837 single base substitution G C intron_variant LUSC-KR 7 23145837 23145837 single base substitution G C upstream_gene_variant LUSC-KR 7 23156619 23156619 single base substitution T A intron_variant LUSC-KR 7 23156619 23156619 single base substitution T A upstream_gene_variant LUSC-KR 7 23160450 23160450 single base substitution G T intron_variant LUSC-KR 7 23160450 23160450 single base substitution G T upstream_gene_variant LUSC-KR 7 23161672 23161672 single base substitution G T intron_variant LUSC-KR 7 23161672 23161672 single base substitution G T upstream_gene_variant LUSC-KR 7 23162916 23162916 single base substitution A G intron_variant LUSC-KR 7 23162916 23162916 single base substitution A G upstream_gene_variant LUSC-KR 7 23164349 23164349 single base substitution A T 3_prime_UTR_variant LUSC-KR 7 23164349 23164349 single base substitution A T exon_variant LUSC-KR 7 23164349 23164349 single base substitution A T intron_variant LUSC-KR 7 23164349 23164349 single base substitution A T missense_variant D13V 38A>T LUSC-KR 7 23164349 23164349 single base substitution A T missense_variant D41V 122A>T LUSC-KR 7 23164349 23164349 single base substitution A T missense_variant D67V 200A>T LUSC-KR 7 23164349 23164349 single base substitution A T missense_variant D89V 266A>T LUSC-KR 7 23164349 23164349 single base substitution A T upstream_gene_variant LUSC-KR 7 23164701 23164701 single base substitution C T 3_prime_UTR_variant LUSC-KR 7 23164701 23164701 single base substitution C T exon_variant LUSC-KR 7 23164701 23164701 single base substitution C T intron_variant LUSC-KR 7 23164701 23164701 single base substitution C T synonymous_variant L118L 352C>T LUSC-KR 7 23164701 23164701 single base substitution C T synonymous_variant L42L 124C>T LUSC-KR 7 23164701 23164701 single base substitution C T synonymous_variant L70L 208C>T LUSC-KR 7 23164701 23164701 single base substitution C T synonymous_variant L96L 286C>T LUSC-KR 7 23167346 23167346 single base substitution G A downstream_gene_variant LUSC-KR 7 23167346 23167346 single base substitution G A intron_variant LUSC-KR 7 23168843 23168843 single base substitution A C downstream_gene_variant LUSC-KR 7 23168843 23168843 single base substitution A C intron_variant LUSC-KR 7 23168905 23168905 single base substitution C A downstream_gene_variant LUSC-KR 7 23168905 23168905 single base substitution C A intron_variant LUSC-KR 7 23172837 23172837 single base substitution A G intron_variant LUSC-KR 7 23173636 23173636 single base substitution G T intron_variant LUSC-KR 7 23177525 23177525 single base substitution G T intron_variant LUSC-KR 7 23178933 23178933 single base substitution T A intron_variant LUSC-KR 7 23178933 23178933 single base substitution T A upstream_gene_variant LUSC-KR 7 23179282 23179282 single base substitution A G intron_variant LUSC-KR 7 23179282 23179282 single base substitution A G upstream_gene_variant LUSC-KR 7 23179567 23179567 single base substitution A G intron_variant LUSC-KR 7 23179567 23179567 single base substitution A G upstream_gene_variant LUSC-KR 7 23181197 23181197 single base substitution T A downstream_gene_variant LUSC-KR 7 23181197 23181197 single base substitution T A intron_variant LUSC-KR 7 23181197 23181197 single base substitution T A upstream_gene_variant LUSC-KR 7 23183815 23183815 single base substitution G T downstream_gene_variant LUSC-KR 7 23183815 23183815 single base substitution G T intron_variant LUSC-KR 7 23191625 23191625 single base substitution G C intron_variant LUSC-KR 7 23191636 23191636 single base substitution A G intron_variant LUSC-KR 7 23191664 23191664 single base substitution G A intron_variant LUSC-KR 7 23191899 23191899 single base substitution T C intron_variant LUSC-KR 7 23196247 23196247 single base substitution T C downstream_gene_variant LUSC-KR 7 23196247 23196247 single base substitution T C intron_variant LUSC-KR 7 23198890 23198890 single base substitution C T downstream_gene_variant LUSC-KR 7 23198890 23198890 single base substitution C T intron_variant LUSC-KR 7 23199140 23199140 single base substitution C T downstream_gene_variant LUSC-KR 7 23199140 23199140 single base substitution C T intron_variant LUSC-KR 7 23199941 23199941 single base substitution C G downstream_gene_variant LUSC-KR 7 23199941 23199941 single base substitution C G intron_variant LUSC-KR 7 23200231 23200231 single base substitution C G downstream_gene_variant LUSC-KR 7 23200231 23200231 single base substitution C G intron_variant LUSC-KR 7 23200336 23200336 single base substitution C G downstream_gene_variant LUSC-KR 7 23200336 23200336 single base substitution C G intron_variant LUSC-KR 7 23207102 23207102 single base substitution T C intron_variant LUSC-KR 7 23214002 23214002 single base substitution G T 3_prime_UTR_variant LUSC-KR 7 23214002 23214002 single base substitution G T downstream_gene_variant LUSC-KR 7 23222395 23222395 single base substitution T G downstream_gene_variant LUSC-US 7 23163419 23163419 single base substitution C T 3_prime_UTR_variant LUSC-US 7 23163419 23163419 single base substitution C T 5_prime_UTR_variant LUSC-US 7 23163419 23163419 single base substitution C T exon_variant LUSC-US 7 23163419 23163419 single base substitution C T intron_variant LUSC-US 7 23163419 23163419 single base substitution C T synonymous_variant L26L 78C>T LUSC-US 7 23163419 23163419 single base substitution C T synonymous_variant L48L 144C>T LUSC-US 7 23163419 23163419 single base substitution C T upstream_gene_variant LUSC-US 7 23180511 23180511 single base substitution G T 3_prime_UTR_variant LUSC-US 7 23180511 23180511 single base substitution G T 5_prime_UTR_variant LUSC-US 7 23180511 23180511 single base substitution G T downstream_gene_variant LUSC-US 7 23180511 23180511 single base substitution G T exon_variant LUSC-US 7 23180511 23180511 single base substitution G T missense_variant R113L 338G>T LUSC-US 7 23180511 23180511 single base substitution G T missense_variant R141L 422G>T LUSC-US 7 23180511 23180511 single base substitution G T missense_variant R167L 500G>T LUSC-US 7 23180511 23180511 single base substitution G T missense_variant R189L 566G>T LUSC-US 7 23180511 23180511 single base substitution G T upstream_gene_variant LUSC-US 7 23205373 23205373 single base substitution C T 3_prime_UTR_variant LUSC-US 7 23205373 23205373 single base substitution C T synonymous_variant C106C 318C>T LUSC-US 7 23205373 23205373 single base substitution C T synonymous_variant C255C 765C>T LUSC-US 7 23205373 23205373 single base substitution C T synonymous_variant C283C 849C>T LUSC-US 7 23205373 23205373 single base substitution C T synonymous_variant C309C 927C>T LUSC-US 7 23205373 23205373 single base substitution C T synonymous_variant C331C 993C>T LUSC-US 7 23205373 23205373 single base substitution C T upstream_gene_variant LUSC-US 7 23205516 23205516 single base substitution C T 3_prime_UTR_variant LUSC-US 7 23205516 23205516 single base substitution C T exon_variant LUSC-US 7 23205516 23205516 single base substitution C T missense_variant A154V 461C>T LUSC-US 7 23205516 23205516 single base substitution C T missense_variant A303V 908C>T LUSC-US 7 23205516 23205516 single base substitution C T missense_variant A331V 992C>T LUSC-US 7 23205516 23205516 single base substitution C T missense_variant A357V 1070C>T LUSC-US 7 23205516 23205516 single base substitution C T missense_variant A379V 1136C>T LUSC-US 7 23207573 23207573 single base substitution C G 3_prime_UTR_variant LUSC-US 7 23207573 23207573 single base substitution C G exon_variant LUSC-US 7 23207573 23207573 single base substitution C G missense_variant I207M 621C>G LUSC-US 7 23207573 23207573 single base substitution C G missense_variant I356M 1068C>G LUSC-US 7 23207573 23207573 single base substitution C G missense_variant I384M 1152C>G LUSC-US 7 23207573 23207573 single base substitution C G missense_variant I410M 1230C>G LUSC-US 7 23207573 23207573 single base substitution C G missense_variant I432M 1296C>G LUSC-US 7 23207573 23207573 single base substitution C G upstream_gene_variant LUSC-US 7 23213843 23213843 single base substitution G T 3_prime_UTR_variant LUSC-US 7 23213843 23213843 single base substitution G T downstream_gene_variant LUSC-US 7 23213843 23213843 single base substitution G T missense_variant A338S 1012G>T LUSC-US 7 23213843 23213843 single base substitution G T missense_variant A487S 1459G>T LUSC-US 7 23213843 23213843 single base substitution G T missense_variant A515S 1543G>T LUSC-US 7 23213843 23213843 single base substitution G T missense_variant A541S 1621G>T LUSC-US 7 23213843 23213843 single base substitution G T missense_variant A563S 1687G>T MALY-DE 7 23144009 23144009 single base substitution A G upstream_gene_variant MALY-DE 7 23172271 23172271 single base substitution G A intron_variant MALY-DE 7 23173544 23173544 single base substitution T G intron_variant MALY-DE 7 23178528 23178528 single base substitution C A intron_variant MALY-DE 7 23188340 23188340 single base substitution T A downstream_gene_variant MALY-DE 7 23188340 23188340 single base substitution T A intron_variant MALY-DE 7 23190446 23190446 single base substitution G T intron_variant MALY-DE 7 23195261 23195261 single base substitution C G intron_variant MALY-DE 7 23197540 23197540 single base substitution A G downstream_gene_variant MALY-DE 7 23197540 23197540 single base substitution A G intron_variant MALY-DE 7 23200183 23200183 single base substitution G A downstream_gene_variant MALY-DE 7 23200183 23200183 single base substitution G A intron_variant MALY-DE 7 23201832 23201832 single base substitution G T intron_variant MALY-DE 7 23201832 23201832 single base substitution G T upstream_gene_variant MALY-DE 7 23210657 23210657 single base substitution G A downstream_gene_variant MALY-DE 7 23210657 23210657 single base substitution G A intron_variant MALY-DE 7 23210657 23210657 single base substitution G A upstream_gene_variant MALY-DE 7 23219383 23219383 single base substitution T G downstream_gene_variant MALY-DE 7 23221450 23221450 single base substitution A T downstream_gene_variant MELA-AU 7 23140415 23140415 single base substitution C T upstream_gene_variant MELA-AU 7 23141372 23141372 single base substitution T C upstream_gene_variant MELA-AU 7 23141391 23141391 single base substitution A G upstream_gene_variant MELA-AU 7 23141518 23141518 single base substitution G A upstream_gene_variant MELA-AU 7 23141846 23141846 single base substitution G A upstream_gene_variant MELA-AU 7 23142121 23142121 single base substitution G A upstream_gene_variant MELA-AU 7 23142271 23142271 single base substitution G A upstream_gene_variant MELA-AU 7 23142394 23142394 single base substitution G A upstream_gene_variant MELA-AU 7 23142660 23142660 single base substitution G A upstream_gene_variant MELA-AU 7 23142851 23142851 single base substitution G A upstream_gene_variant MELA-AU 7 23143420 23143420 single base substitution G A upstream_gene_variant MELA-AU 7 23143453 23143453 single base substitution C T upstream_gene_variant MELA-AU 7 23143937 23143937 single base substitution C T upstream_gene_variant MELA-AU 7 23143975 23143975 single base substitution T C upstream_gene_variant MELA-AU 7 23143995 23143995 single base substitution C T upstream_gene_variant MELA-AU 7 23144230 23144230 single base substitution G A upstream_gene_variant MELA-AU 7 23144334 23144334 single base substitution G A upstream_gene_variant MELA-AU 7 23144957 23144957 single base substitution G A upstream_gene_variant MELA-AU 7 23145409 23145409 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 7 23145409 23145409 single base substitution C T exon_variant MELA-AU 7 23145409 23145409 single base substitution C T upstream_gene_variant MELA-AU 7 23147052 23147052 single base substitution A G intron_variant MELA-AU 7 23147621 23147621 single base substitution G T intron_variant MELA-AU 7 23148211 23148211 single base substitution C T intron_variant MELA-AU 7 23149042 23149042 single base substitution C T intron_variant MELA-AU 7 23149516 23149516 single base substitution C T intron_variant MELA-AU 7 23150158 23150158 single base substitution C T intron_variant MELA-AU 7 23151778 23151778 single base substitution G A intron_variant MELA-AU 7 23152694 23152694 single base substitution G A intron_variant MELA-AU 7 23152694 23152694 single base substitution G A upstream_gene_variant MELA-AU 7 23152870 23152870 single base substitution T C intron_variant MELA-AU 7 23152870 23152870 single base substitution T C upstream_gene_variant MELA-AU 7 23153242 23153242 single base substitution G A intron_variant MELA-AU 7 23153242 23153242 single base substitution G A upstream_gene_variant MELA-AU 7 23153453 23153453 single base substitution C T intron_variant MELA-AU 7 23153453 23153453 single base substitution C T upstream_gene_variant MELA-AU 7 23153481 23153481 single base substitution C T intron_variant MELA-AU 7 23153481 23153481 single base substitution C T upstream_gene_variant MELA-AU 7 23153603 23153603 single base substitution C T intron_variant MELA-AU 7 23153603 23153603 single base substitution C T upstream_gene_variant MELA-AU 7 23154783 23154783 single base substitution A G intron_variant MELA-AU 7 23154783 23154783 single base substitution A G upstream_gene_variant MELA-AU 7 23154811 23154811 single base substitution C T intron_variant MELA-AU 7 23154811 23154811 single base substitution C T upstream_gene_variant MELA-AU 7 23154812 23154812 single base substitution C T intron_variant MELA-AU 7 23154812 23154812 single base substitution C T upstream_gene_variant MELA-AU 7 23154828 23154828 single base substitution C T intron_variant MELA-AU 7 23154828 23154828 single base substitution C T upstream_gene_variant MELA-AU 7 23155062 23155063 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 23155062 23155063 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 23155550 23155550 single base substitution C T intron_variant MELA-AU 7 23155550 23155550 single base substitution C T upstream_gene_variant MELA-AU 7 23155564 23155564 single base substitution C T intron_variant MELA-AU 7 23155564 23155564 single base substitution C T upstream_gene_variant MELA-AU 7 23155611 23155611 single base substitution C T intron_variant MELA-AU 7 23155611 23155611 single base substitution C T upstream_gene_variant MELA-AU 7 23155896 23155896 single base substitution C T intron_variant MELA-AU 7 23155896 23155896 single base substitution C T upstream_gene_variant MELA-AU 7 23156239 23156239 single base substitution C T intron_variant MELA-AU 7 23156239 23156239 single base substitution C T upstream_gene_variant MELA-AU 7 23156565 23156565 single base substitution T A intron_variant MELA-AU 7 23156565 23156565 single base substitution T A upstream_gene_variant MELA-AU 7 23157039 23157039 single base substitution C T intron_variant MELA-AU 7 23157039 23157039 single base substitution C T upstream_gene_variant MELA-AU 7 23157130 23157130 single base substitution C T intron_variant MELA-AU 7 23157130 23157130 single base substitution C T upstream_gene_variant MELA-AU 7 23157585 23157585 single base substitution T C intron_variant MELA-AU 7 23157585 23157585 single base substitution T C splice_donor_variant MELA-AU 7 23157744 23157744 single base substitution C T intron_variant MELA-AU 7 23157830 23157830 single base substitution C T intron_variant MELA-AU 7 23158039 23158039 single base substitution G A intron_variant MELA-AU 7 23159293 23159293 single base substitution T C intron_variant MELA-AU 7 23159407 23159407 single base substitution C T intron_variant MELA-AU 7 23159539 23159539 single base substitution C T intron_variant MELA-AU 7 23160545 23160545 single base substitution C T intron_variant MELA-AU 7 23160545 23160545 single base substitution C T upstream_gene_variant MELA-AU 7 23161274 23161274 single base substitution C T intron_variant MELA-AU 7 23161274 23161274 single base substitution C T upstream_gene_variant MELA-AU 7 23161298 23161298 single base substitution C T intron_variant MELA-AU 7 23161298 23161298 single base substitution C T upstream_gene_variant MELA-AU 7 23161436 23161436 single base substitution G A intron_variant MELA-AU 7 23161436 23161436 single base substitution G A upstream_gene_variant MELA-AU 7 23161608 23161608 single base substitution C T intron_variant MELA-AU 7 23161608 23161608 single base substitution C T upstream_gene_variant MELA-AU 7 23161816 23161816 single base substitution C T intron_variant MELA-AU 7 23161816 23161816 single base substitution C T upstream_gene_variant MELA-AU 7 23163133 23163133 single base substitution G A intron_variant MELA-AU 7 23163133 23163133 single base substitution G A upstream_gene_variant MELA-AU 7 23163385 23163385 single base substitution C T intron_variant MELA-AU 7 23163385 23163385 single base substitution C T upstream_gene_variant MELA-AU 7 23163386 23163386 single base substitution C T intron_variant MELA-AU 7 23163386 23163386 single base substitution C T upstream_gene_variant MELA-AU 7 23163450 23163450 single base substitution C T 3_prime_UTR_variant MELA-AU 7 23163450 23163450 single base substitution C T exon_variant MELA-AU 7 23163450 23163450 single base substitution C T intron_variant MELA-AU 7 23163450 23163450 single base substitution C T missense_variant R11C 31C>T MELA-AU 7 23163450 23163450 single base substitution C T missense_variant R37C 109C>T MELA-AU 7 23163450 23163450 single base substitution C T missense_variant R59C 175C>T MELA-AU 7 23163450 23163450 single base substitution C T upstream_gene_variant MELA-AU 7 23163671 23163671 single base substitution C T intron_variant MELA-AU 7 23163671 23163671 single base substitution C T upstream_gene_variant MELA-AU 7 23163797 23163797 single base substitution G A intron_variant MELA-AU 7 23163797 23163797 single base substitution G A upstream_gene_variant MELA-AU 7 23165837 23165837 single base substitution C T downstream_gene_variant MELA-AU 7 23165837 23165837 single base substitution C T intron_variant MELA-AU 7 23165938 23165938 single base substitution C T downstream_gene_variant MELA-AU 7 23165938 23165938 single base substitution C T intron_variant MELA-AU 7 23166004 23166004 single base substitution C T downstream_gene_variant MELA-AU 7 23166004 23166004 single base substitution C T intron_variant MELA-AU 7 23166095 23166095 single base substitution G A downstream_gene_variant MELA-AU 7 23166095 23166095 single base substitution G A intron_variant MELA-AU 7 23167606 23167606 single base substitution G A downstream_gene_variant MELA-AU 7 23167606 23167606 single base substitution G A intron_variant MELA-AU 7 23167868 23167868 single base substitution G A downstream_gene_variant MELA-AU 7 23167868 23167868 single base substitution G A intron_variant MELA-AU 7 23168085 23168085 single base substitution G C downstream_gene_variant MELA-AU 7 23168085 23168085 single base substitution G C intron_variant MELA-AU 7 23168168 23168168 single base substitution T C downstream_gene_variant MELA-AU 7 23168168 23168168 single base substitution T C intron_variant MELA-AU 7 23168910 23168910 single base substitution C T downstream_gene_variant MELA-AU 7 23168910 23168910 single base substitution C T intron_variant MELA-AU 7 23169614 23169614 single base substitution A C downstream_gene_variant MELA-AU 7 23169614 23169614 single base substitution A C intron_variant MELA-AU 7 23169617 23169617 single base substitution G A downstream_gene_variant MELA-AU 7 23169617 23169617 single base substitution G A intron_variant MELA-AU 7 23169831 23169831 single base substitution C T downstream_gene_variant MELA-AU 7 23169831 23169831 single base substitution C T intron_variant MELA-AU 7 23169836 23169836 single base substitution T G downstream_gene_variant MELA-AU 7 23169836 23169836 single base substitution T G intron_variant MELA-AU 7 23170830 23170830 single base substitution C T intron_variant MELA-AU 7 23171569 23171569 single base substitution C T intron_variant MELA-AU 7 23171962 23171962 single base substitution C T intron_variant MELA-AU 7 23172108 23172108 single base substitution C T intron_variant MELA-AU 7 23172180 23172181 multiple base substitution (>=2bp and <=200bp) TA AG intron_variant MELA-AU 7 23172200 23172200 single base substitution C T intron_variant MELA-AU 7 23172399 23172399 single base substitution T A intron_variant MELA-AU 7 23172468 23172468 single base substitution C T intron_variant MELA-AU 7 23173230 23173230 single base substitution T A intron_variant MELA-AU 7 23173287 23173287 single base substitution A C intron_variant MELA-AU 7 23173449 23173450 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 23174440 23174440 single base substitution T C intron_variant MELA-AU 7 23174584 23174584 single base substitution C A intron_variant MELA-AU 7 23174726 23174726 single base substitution C T intron_variant MELA-AU 7 23174939 23174939 single base substitution A T intron_variant MELA-AU 7 23175109 23175109 single base substitution C T intron_variant MELA-AU 7 23175278 23175278 single base substitution C T intron_variant MELA-AU 7 23175330 23175330 single base substitution C T intron_variant MELA-AU 7 23177773 23177773 single base substitution C T intron_variant MELA-AU 7 23177963 23177963 single base substitution C T intron_variant MELA-AU 7 23178116 23178116 single base substitution C T intron_variant MELA-AU 7 23178578 23178578 single base substitution C T intron_variant MELA-AU 7 23178578 23178578 single base substitution C T upstream_gene_variant MELA-AU 7 23179501 23179501 single base substitution C T intron_variant MELA-AU 7 23179501 23179501 single base substitution C T upstream_gene_variant MELA-AU 7 23179873 23179873 single base substitution C T intron_variant MELA-AU 7 23179873 23179873 single base substitution C T upstream_gene_variant MELA-AU 7 23180068 23180068 single base substitution C T intron_variant MELA-AU 7 23180068 23180068 single base substitution C T upstream_gene_variant MELA-AU 7 23180130 23180130 single base substitution C T intron_variant MELA-AU 7 23180130 23180130 single base substitution C T upstream_gene_variant MELA-AU 7 23180375 23180375 single base substitution T A intron_variant MELA-AU 7 23180375 23180375 single base substitution T A upstream_gene_variant MELA-AU 7 23180847 23180847 single base substitution G A downstream_gene_variant MELA-AU 7 23180847 23180847 single base substitution G A intron_variant MELA-AU 7 23180847 23180847 single base substitution G A upstream_gene_variant MELA-AU 7 23180898 23180898 single base substitution C T downstream_gene_variant MELA-AU 7 23180898 23180898 single base substitution C T intron_variant MELA-AU 7 23180898 23180898 single base substitution C T upstream_gene_variant MELA-AU 7 23180917 23180917 single base substitution C T downstream_gene_variant MELA-AU 7 23180917 23180917 single base substitution C T intron_variant MELA-AU 7 23180917 23180917 single base substitution C T upstream_gene_variant MELA-AU 7 23181528 23181528 single base substitution C T downstream_gene_variant MELA-AU 7 23181528 23181528 single base substitution C T intron_variant MELA-AU 7 23181528 23181528 single base substitution C T upstream_gene_variant MELA-AU 7 23181638 23181638 single base substitution A T downstream_gene_variant MELA-AU 7 23181638 23181638 single base substitution A T intron_variant MELA-AU 7 23181638 23181638 single base substitution A T upstream_gene_variant MELA-AU 7 23181645 23181645 single base substitution C T downstream_gene_variant MELA-AU 7 23181645 23181645 single base substitution C T intron_variant MELA-AU 7 23181645 23181645 single base substitution C T upstream_gene_variant MELA-AU 7 23181719 23181719 single base substitution C T downstream_gene_variant MELA-AU 7 23181719 23181719 single base substitution C T intron_variant MELA-AU 7 23181719 23181719 single base substitution C T upstream_gene_variant MELA-AU 7 23181758 23181758 single base substitution C T downstream_gene_variant MELA-AU 7 23181758 23181758 single base substitution C T intron_variant MELA-AU 7 23181758 23181758 single base substitution C T upstream_gene_variant MELA-AU 7 23183047 23183047 single base substitution C T downstream_gene_variant MELA-AU 7 23183047 23183047 single base substitution C T intron_variant MELA-AU 7 23183047 23183047 single base substitution C T upstream_gene_variant MELA-AU 7 23183923 23183923 single base substitution C T downstream_gene_variant MELA-AU 7 23183923 23183923 single base substitution C T intron_variant MELA-AU 7 23184405 23184405 single base substitution A G downstream_gene_variant MELA-AU 7 23184405 23184405 single base substitution A G intron_variant MELA-AU 7 23184572 23184572 single base substitution C T downstream_gene_variant MELA-AU 7 23184572 23184572 single base substitution C T intron_variant MELA-AU 7 23184898 23184898 single base substitution G A downstream_gene_variant MELA-AU 7 23184898 23184898 single base substitution G A intron_variant MELA-AU 7 23185446 23185446 single base substitution C A downstream_gene_variant MELA-AU 7 23185446 23185446 single base substitution C A intron_variant MELA-AU 7 23186045 23186045 single base substitution G A downstream_gene_variant MELA-AU 7 23186045 23186045 single base substitution G A intron_variant MELA-AU 7 23186128 23186128 single base substitution C T downstream_gene_variant MELA-AU 7 23186128 23186128 single base substitution C T intron_variant MELA-AU 7 23186235 23186235 single base substitution C T downstream_gene_variant MELA-AU 7 23186235 23186235 single base substitution C T intron_variant MELA-AU 7 23186405 23186405 single base substitution C T downstream_gene_variant MELA-AU 7 23186405 23186405 single base substitution C T intron_variant MELA-AU 7 23186542 23186542 single base substitution T A downstream_gene_variant MELA-AU 7 23186542 23186542 single base substitution T A intron_variant MELA-AU 7 23187038 23187038 single base substitution C A downstream_gene_variant MELA-AU 7 23187038 23187038 single base substitution C A intron_variant MELA-AU 7 23187038 23187038 single base substitution C T downstream_gene_variant MELA-AU 7 23187038 23187038 single base substitution C T intron_variant MELA-AU 7 23187157 23187157 single base substitution C T downstream_gene_variant MELA-AU 7 23187157 23187157 single base substitution C T intron_variant MELA-AU 7 23187185 23187185 single base substitution C T downstream_gene_variant MELA-AU 7 23187185 23187185 single base substitution C T intron_variant MELA-AU 7 23187557 23187557 single base substitution C T downstream_gene_variant MELA-AU 7 23187557 23187557 single base substitution C T intron_variant MELA-AU 7 23187615 23187615 single base substitution C T downstream_gene_variant MELA-AU 7 23187615 23187615 single base substitution C T intron_variant MELA-AU 7 23187805 23187805 single base substitution C T downstream_gene_variant MELA-AU 7 23187805 23187805 single base substitution C T intron_variant MELA-AU 7 23188482 23188482 single base substitution C T downstream_gene_variant MELA-AU 7 23188482 23188482 single base substitution C T intron_variant MELA-AU 7 23189089 23189089 single base substitution G A intron_variant MELA-AU 7 23189341 23189341 single base substitution C T intron_variant MELA-AU 7 23189484 23189484 single base substitution C T intron_variant MELA-AU 7 23189567 23189567 single base substitution C T intron_variant MELA-AU 7 23190102 23190102 single base substitution C T intron_variant MELA-AU 7 23190126 23190126 single base substitution C T intron_variant MELA-AU 7 23190723 23190723 single base substitution C T intron_variant MELA-AU 7 23190887 23190887 single base substitution T A intron_variant MELA-AU 7 23191269 23191269 single base substitution C T intron_variant MELA-AU 7 23191538 23191538 single base substitution C T intron_variant MELA-AU 7 23191624 23191624 single base substitution C T intron_variant MELA-AU 7 23191845 23191845 single base substitution C T intron_variant MELA-AU 7 23191951 23191951 single base substitution C T intron_variant MELA-AU 7 23192006 23192006 single base substitution T C intron_variant MELA-AU 7 23192184 23192184 single base substitution C T intron_variant MELA-AU 7 23192398 23192398 single base substitution C T intron_variant MELA-AU 7 23192414 23192414 single base substitution A T intron_variant MELA-AU 7 23192536 23192536 single base substitution C T intron_variant MELA-AU 7 23193561 23193561 single base substitution C T intron_variant MELA-AU 7 23193800 23193800 single base substitution C T intron_variant MELA-AU 7 23194341 23194341 single base substitution C T intron_variant MELA-AU 7 23194358 23194358 single base substitution G T intron_variant MELA-AU 7 23194531 23194531 single base substitution C T intron_variant MELA-AU 7 23194558 23194558 single base substitution C T intron_variant MELA-AU 7 23194570 23194570 single base substitution C T intron_variant MELA-AU 7 23194863 23194863 single base substitution C T intron_variant MELA-AU 7 23195406 23195406 single base substitution T C intron_variant MELA-AU 7 23195420 23195421 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 23195590 23195590 single base substitution G A intron_variant MELA-AU 7 23196524 23196524 single base substitution A T downstream_gene_variant MELA-AU 7 23196524 23196524 single base substitution A T intron_variant MELA-AU 7 23196649 23196649 single base substitution A T downstream_gene_variant MELA-AU 7 23196649 23196649 single base substitution A T intron_variant MELA-AU 7 23196853 23196853 single base substitution C T downstream_gene_variant MELA-AU 7 23196853 23196853 single base substitution C T intron_variant MELA-AU 7 23197122 23197122 single base substitution T A downstream_gene_variant MELA-AU 7 23197122 23197122 single base substitution T A intron_variant MELA-AU 7 23197224 23197224 single base substitution A T downstream_gene_variant MELA-AU 7 23197224 23197224 single base substitution A T intron_variant MELA-AU 7 23197576 23197576 single base substitution C T downstream_gene_variant MELA-AU 7 23197576 23197576 single base substitution C T intron_variant MELA-AU 7 23197875 23197875 single base substitution C T downstream_gene_variant MELA-AU 7 23197875 23197875 single base substitution C T intron_variant MELA-AU 7 23197929 23197929 single base substitution G A downstream_gene_variant MELA-AU 7 23197929 23197929 single base substitution G A intron_variant MELA-AU 7 23197943 23197943 single base substitution C T downstream_gene_variant MELA-AU 7 23197943 23197943 single base substitution C T intron_variant MELA-AU 7 23197993 23197993 single base substitution C T downstream_gene_variant MELA-AU 7 23197993 23197993 single base substitution C T intron_variant MELA-AU 7 23198192 23198192 single base substitution A T downstream_gene_variant MELA-AU 7 23198192 23198192 single base substitution A T intron_variant MELA-AU 7 23199646 23199646 single base substitution T C downstream_gene_variant MELA-AU 7 23199646 23199646 single base substitution T C intron_variant MELA-AU 7 23199694 23199694 single base substitution C T downstream_gene_variant MELA-AU 7 23199694 23199694 single base substitution C T intron_variant MELA-AU 7 23200809 23200809 single base substitution C A intron_variant MELA-AU 7 23200809 23200809 single base substitution C A upstream_gene_variant MELA-AU 7 23201117 23201117 single base substitution C T intron_variant MELA-AU 7 23201117 23201117 single base substitution C T upstream_gene_variant MELA-AU 7 23201987 23201987 single base substitution C T intron_variant MELA-AU 7 23201987 23201987 single base substitution C T upstream_gene_variant MELA-AU 7 23202218 23202218 single base substitution C T intron_variant MELA-AU 7 23202218 23202218 single base substitution C T upstream_gene_variant MELA-AU 7 23202518 23202518 single base substitution C T intron_variant MELA-AU 7 23202518 23202518 single base substitution C T upstream_gene_variant MELA-AU 7 23202608 23202608 single base substitution C T intron_variant MELA-AU 7 23202608 23202608 single base substitution C T upstream_gene_variant MELA-AU 7 23202725 23202725 single base substitution C T intron_variant MELA-AU 7 23202725 23202725 single base substitution C T upstream_gene_variant MELA-AU 7 23203223 23203223 single base substitution C T intron_variant MELA-AU 7 23203223 23203223 single base substitution C T upstream_gene_variant MELA-AU 7 23203278 23203278 single base substitution G A intron_variant MELA-AU 7 23203278 23203278 single base substitution G A upstream_gene_variant MELA-AU 7 23203398 23203398 single base substitution C T intron_variant MELA-AU 7 23203398 23203398 single base substitution C T upstream_gene_variant MELA-AU 7 23203620 23203620 single base substitution C T intron_variant MELA-AU 7 23203620 23203620 single base substitution C T upstream_gene_variant MELA-AU 7 23204989 23204989 single base substitution T C intron_variant MELA-AU 7 23204989 23204989 single base substitution T C upstream_gene_variant MELA-AU 7 23205483 23205483 single base substitution C T 3_prime_UTR_variant MELA-AU 7 23205483 23205483 single base substitution C T missense_variant P143L 428C>T MELA-AU 7 23205483 23205483 single base substitution C T missense_variant P292L 875C>T MELA-AU 7 23205483 23205483 single base substitution C T missense_variant P320L 959C>T MELA-AU 7 23205483 23205483 single base substitution C T missense_variant P346L 1037C>T MELA-AU 7 23205483 23205483 single base substitution C T missense_variant P368L 1103C>T MELA-AU 7 23205483 23205483 single base substitution C T upstream_gene_variant MELA-AU 7 23205585 23205585 single base substitution G A intron_variant MELA-AU 7 23207126 23207126 deletion of <=200bp T - intron_variant MELA-AU 7 23207308 23207308 single base substitution C T intron_variant MELA-AU 7 23207826 23207826 single base substitution C T downstream_gene_variant MELA-AU 7 23207826 23207826 single base substitution C T intron_variant MELA-AU 7 23207826 23207826 single base substitution C T upstream_gene_variant MELA-AU 7 23208088 23208088 single base substitution C T downstream_gene_variant MELA-AU 7 23208088 23208088 single base substitution C T intron_variant MELA-AU 7 23208088 23208088 single base substitution C T upstream_gene_variant MELA-AU 7 23208361 23208361 single base substitution T A downstream_gene_variant MELA-AU 7 23208361 23208361 single base substitution T A intron_variant MELA-AU 7 23208361 23208361 single base substitution T A upstream_gene_variant MELA-AU 7 23208627 23208627 single base substitution T G downstream_gene_variant MELA-AU 7 23208627 23208627 single base substitution T G intron_variant MELA-AU 7 23208627 23208627 single base substitution T G upstream_gene_variant MELA-AU 7 23208846 23208847 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 23208846 23208847 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 23208846 23208847 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 23209329 23209329 single base substitution C T downstream_gene_variant MELA-AU 7 23209329 23209329 single base substitution C T intron_variant MELA-AU 7 23209329 23209329 single base substitution C T upstream_gene_variant MELA-AU 7 23209340 23209340 single base substitution A T downstream_gene_variant MELA-AU 7 23209340 23209340 single base substitution A T intron_variant MELA-AU 7 23209340 23209340 single base substitution A T upstream_gene_variant MELA-AU 7 23209904 23209904 single base substitution C T downstream_gene_variant MELA-AU 7 23209904 23209904 single base substitution C T intron_variant MELA-AU 7 23209904 23209904 single base substitution C T upstream_gene_variant MELA-AU 7 23210804 23210804 single base substitution G A downstream_gene_variant MELA-AU 7 23210804 23210804 single base substitution G A intron_variant MELA-AU 7 23210804 23210804 single base substitution G A upstream_gene_variant MELA-AU 7 23210961 23210961 single base substitution C T downstream_gene_variant MELA-AU 7 23210961 23210961 single base substitution C T intron_variant MELA-AU 7 23210961 23210961 single base substitution C T upstream_gene_variant MELA-AU 7 23211160 23211160 single base substitution A T downstream_gene_variant MELA-AU 7 23211160 23211160 single base substitution A T intron_variant MELA-AU 7 23211160 23211160 single base substitution A T upstream_gene_variant MELA-AU 7 23211419 23211419 single base substitution C T downstream_gene_variant MELA-AU 7 23211419 23211419 single base substitution C T intron_variant MELA-AU 7 23211419 23211419 single base substitution C T upstream_gene_variant MELA-AU 7 23212377 23212377 single base substitution C T downstream_gene_variant MELA-AU 7 23212377 23212377 single base substitution C T intron_variant MELA-AU 7 23212377 23212377 single base substitution C T upstream_gene_variant MELA-AU 7 23213250 23213250 single base substitution C T intron_variant MELA-AU 7 23213280 23213280 single base substitution C T intron_variant MELA-AU 7 23213300 23213300 single base substitution G A intron_variant MELA-AU 7 23213342 23213342 single base substitution G A intron_variant MELA-AU 7 23214077 23214077 single base substitution C T 3_prime_UTR_variant MELA-AU 7 23214077 23214077 single base substitution C T downstream_gene_variant MELA-AU 7 23214501 23214501 single base substitution T C 3_prime_UTR_variant MELA-AU 7 23214501 23214501 single base substitution T C downstream_gene_variant MELA-AU 7 23214553 23214553 single base substitution C T 3_prime_UTR_variant MELA-AU 7 23214553 23214553 single base substitution C T downstream_gene_variant MELA-AU 7 23214614 23214614 single base substitution C T 3_prime_UTR_variant MELA-AU 7 23214614 23214614 single base substitution C T downstream_gene_variant MELA-AU 7 23214652 23214652 single base substitution C T 3_prime_UTR_variant MELA-AU 7 23214652 23214652 single base substitution C T downstream_gene_variant MELA-AU 7 23216055 23216055 single base substitution G A 3_prime_UTR_variant MELA-AU 7 23216055 23216055 single base substitution G A downstream_gene_variant MELA-AU 7 23216723 23216723 single base substitution G T 3_prime_UTR_variant MELA-AU 7 23216723 23216723 single base substitution G T downstream_gene_variant MELA-AU 7 23217439 23217439 single base substitution C T 3_prime_UTR_variant MELA-AU 7 23217439 23217439 single base substitution C T downstream_gene_variant MELA-AU 7 23217875 23217875 single base substitution C T downstream_gene_variant MELA-AU 7 23217947 23217947 single base substitution G T downstream_gene_variant MELA-AU 7 23218069 23218069 single base substitution C T downstream_gene_variant MELA-AU 7 23218126 23218126 single base substitution G A downstream_gene_variant MELA-AU 7 23218500 23218500 single base substitution C T downstream_gene_variant MELA-AU 7 23218910 23218910 single base substitution G A downstream_gene_variant MELA-AU 7 23219605 23219605 single base substitution C T downstream_gene_variant MELA-AU 7 23220522 23220522 single base substitution G A downstream_gene_variant MELA-AU 7 23220680 23220680 single base substitution G A downstream_gene_variant MELA-AU 7 23221055 23221056 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 23221406 23221407 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 23221435 23221435 single base substitution C T downstream_gene_variant MELA-AU 7 23221438 23221438 single base substitution C T downstream_gene_variant MELA-AU 7 23221575 23221575 single base substitution C T downstream_gene_variant MELA-AU 7 23221578 23221578 single base substitution C T downstream_gene_variant MELA-AU 7 23222218 23222218 single base substitution G A downstream_gene_variant ORCA-IN 7 23146233 23146233 single base substitution C T 5_prime_UTR_variant ORCA-IN 7 23146233 23146233 single base substitution C T intron_variant ORCA-IN 7 23146233 23146233 single base substitution C T upstream_gene_variant ORCA-IN 7 23164317 23164317 insertion of <=200bp - GA 3_prime_UTR_variant ORCA-IN 7 23164317 23164317 insertion of <=200bp - GA exon_variant ORCA-IN 7 23164317 23164317 insertion of <=200bp - GA frameshift_variant L2L? ORCA-IN 7 23164317 23164317 insertion of <=200bp - GA frameshift_variant L30L? ORCA-IN 7 23164317 23164317 insertion of <=200bp - GA frameshift_variant L56L? ORCA-IN 7 23164317 23164317 insertion of <=200bp - GA frameshift_variant L78L? ORCA-IN 7 23164317 23164317 insertion of <=200bp - GA intron_variant ORCA-IN 7 23164317 23164317 insertion of <=200bp - GA upstream_gene_variant ORCA-IN 7 23175927 23175927 single base substitution G A intron_variant ORCA-IN 7 23176457 23176457 single base substitution G C intron_variant ORCA-IN 7 23201482 23201482 single base substitution C T intron_variant ORCA-IN 7 23201482 23201482 single base substitution C T upstream_gene_variant ORCA-IN 7 23205450 23205450 single base substitution T A 3_prime_UTR_variant ORCA-IN 7 23205450 23205450 single base substitution T A missense_variant V132E 395T>A ORCA-IN 7 23205450 23205450 single base substitution T A missense_variant V281E 842T>A ORCA-IN 7 23205450 23205450 single base substitution T A missense_variant V309E 926T>A ORCA-IN 7 23205450 23205450 single base substitution T A missense_variant V335E 1004T>A ORCA-IN 7 23205450 23205450 single base substitution T A missense_variant V357E 1070T>A ORCA-IN 7 23205450 23205450 single base substitution T A upstream_gene_variant ORCA-IN 7 23211448 23211448 single base substitution C T downstream_gene_variant ORCA-IN 7 23211448 23211448 single base substitution C T intron_variant ORCA-IN 7 23211448 23211448 single base substitution C T upstream_gene_variant OV-AU 7 23141003 23141003 single base substitution T C upstream_gene_variant OV-AU 7 23143639 23143639 single base substitution A G upstream_gene_variant OV-AU 7 23150987 23150987 single base substitution A C intron_variant OV-AU 7 23161475 23161475 single base substitution G T intron_variant OV-AU 7 23161475 23161475 single base substitution G T upstream_gene_variant OV-AU 7 23168480 23168480 single base substitution G A downstream_gene_variant OV-AU 7 23168480 23168480 single base substitution G A intron_variant OV-AU 7 23168536 23168536 single base substitution C T downstream_gene_variant OV-AU 7 23168536 23168536 single base substitution C T intron_variant OV-AU 7 23170475 23170475 single base substitution C T downstream_gene_variant OV-AU 7 23170475 23170475 single base substitution C T intron_variant OV-AU 7 23175839 23175839 single base substitution A C intron_variant OV-AU 7 23178955 23178955 single base substitution A C intron_variant OV-AU 7 23178955 23178955 single base substitution A C upstream_gene_variant OV-AU 7 23187530 23187530 single base substitution T A downstream_gene_variant OV-AU 7 23187530 23187530 single base substitution T A intron_variant OV-AU 7 23197199 23197199 single base substitution G C downstream_gene_variant OV-AU 7 23197199 23197199 single base substitution G C intron_variant OV-AU 7 23200244 23200244 single base substitution A G downstream_gene_variant OV-AU 7 23200244 23200244 single base substitution A G intron_variant OV-AU 7 23206407 23206407 single base substitution A G intron_variant OV-AU 7 23219155 23219155 single base substitution G A downstream_gene_variant OV-AU 7 23221375 23221375 single base substitution T C downstream_gene_variant PACA-AU 7 23145191 23145191 insertion of <=200bp - T upstream_gene_variant PACA-AU 7 23148607 23148607 insertion of <=200bp - T intron_variant PACA-AU 7 23150905 23150905 single base substitution G A intron_variant PACA-AU 7 23155673 23155677 deletion of <=200bp GAGAG - intron_variant PACA-AU 7 23155673 23155677 deletion of <=200bp GAGAG - upstream_gene_variant PACA-AU 7 23156897 23156897 single base substitution G C intron_variant PACA-AU 7 23156897 23156897 single base substitution G C upstream_gene_variant PACA-AU 7 23160014 23160014 single base substitution A T intron_variant PACA-AU 7 23160014 23160014 single base substitution A T upstream_gene_variant PACA-AU 7 23161205 23161205 single base substitution C A intron_variant PACA-AU 7 23161205 23161205 single base substitution C A upstream_gene_variant PACA-AU 7 23161286 23161286 single base substitution G T intron_variant PACA-AU 7 23161286 23161286 single base substitution G T upstream_gene_variant PACA-AU 7 23167898 23167898 single base substitution C T downstream_gene_variant PACA-AU 7 23167898 23167898 single base substitution C T intron_variant PACA-AU 7 23173295 23173295 single base substitution C T intron_variant PACA-AU 7 23179495 23179495 single base substitution C T intron_variant PACA-AU 7 23179495 23179495 single base substitution C T upstream_gene_variant PACA-AU 7 23183061 23183061 single base substitution G A downstream_gene_variant PACA-AU 7 23183061 23183061 single base substitution G A intron_variant PACA-AU 7 23183061 23183061 single base substitution G A upstream_gene_variant PACA-AU 7 23183461 23183461 deletion of <=200bp C - downstream_gene_variant PACA-AU 7 23183461 23183461 deletion of <=200bp C - intron_variant PACA-AU 7 23183461 23183461 deletion of <=200bp C - upstream_gene_variant PACA-AU 7 23186858 23186858 single base substitution G A downstream_gene_variant PACA-AU 7 23186858 23186858 single base substitution G A intron_variant PACA-AU 7 23196005 23196005 single base substitution C T downstream_gene_variant PACA-AU 7 23196005 23196005 single base substitution C T intron_variant PACA-AU 7 23199367 23199367 single base substitution G T downstream_gene_variant PACA-AU 7 23199367 23199367 single base substitution G T intron_variant PACA-AU 7 23202359 23202359 single base substitution G A intron_variant PACA-AU 7 23202359 23202359 single base substitution G A upstream_gene_variant PACA-AU 7 23202360 23202360 single base substitution G T intron_variant PACA-AU 7 23202360 23202360 single base substitution G T upstream_gene_variant PACA-AU 7 23202548 23202548 single base substitution C T intron_variant PACA-AU 7 23202548 23202548 single base substitution C T upstream_gene_variant PACA-AU 7 23205431 23205431 single base substitution C T 3_prime_UTR_variant PACA-AU 7 23205431 23205431 single base substitution C T stop_gained R126* 376C>T PACA-AU 7 23205431 23205431 single base substitution C T stop_gained R275* 823C>T PACA-AU 7 23205431 23205431 single base substitution C T stop_gained R303* 907C>T PACA-AU 7 23205431 23205431 single base substitution C T stop_gained R329* 985C>T PACA-AU 7 23205431 23205431 single base substitution C T stop_gained R351* 1051C>T PACA-AU 7 23205431 23205431 single base substitution C T upstream_gene_variant PACA-AU 7 23207181 23207181 single base substitution T A intron_variant PACA-AU 7 23210811 23210811 single base substitution C T downstream_gene_variant PACA-AU 7 23210811 23210811 single base substitution C T intron_variant PACA-AU 7 23210811 23210811 single base substitution C T upstream_gene_variant PACA-CA 7 23140736 23140736 single base substitution G T upstream_gene_variant PACA-CA 7 23143814 23143814 single base substitution G A upstream_gene_variant PACA-CA 7 23144155 23144155 single base substitution A G upstream_gene_variant PACA-CA 7 23146564 23146564 single base substitution T G intron_variant PACA-CA 7 23146953 23146953 single base substitution A T intron_variant PACA-CA 7 23148808 23148808 single base substitution C T intron_variant PACA-CA 7 23152306 23152306 single base substitution T G intron_variant PACA-CA 7 23155921 23155921 single base substitution G A intron_variant PACA-CA 7 23155921 23155921 single base substitution G A upstream_gene_variant PACA-CA 7 23158144 23158144 single base substitution G A intron_variant PACA-CA 7 23163301 23163301 single base substitution T A intron_variant PACA-CA 7 23163301 23163301 single base substitution T A upstream_gene_variant PACA-CA 7 23165640 23165640 single base substitution T C 3_prime_UTR_variant PACA-CA 7 23165640 23165640 single base substitution T C downstream_gene_variant PACA-CA 7 23165640 23165640 single base substitution T C exon_variant PACA-CA 7 23165640 23165640 single base substitution T C intron_variant PACA-CA 7 23170134 23170134 single base substitution T A downstream_gene_variant PACA-CA 7 23170134 23170134 single base substitution T A intron_variant PACA-CA 7 23180208 23180208 single base substitution C A intron_variant PACA-CA 7 23180208 23180208 single base substitution C A upstream_gene_variant PACA-CA 7 23183401 23183401 single base substitution G A downstream_gene_variant PACA-CA 7 23183401 23183401 single base substitution G A intron_variant PACA-CA 7 23183401 23183401 single base substitution G A upstream_gene_variant PACA-CA 7 23183925 23183925 single base substitution T G downstream_gene_variant PACA-CA 7 23183925 23183925 single base substitution T G intron_variant PACA-CA 7 23184330 23184330 single base substitution G A downstream_gene_variant PACA-CA 7 23184330 23184330 single base substitution G A intron_variant PACA-CA 7 23185879 23185879 single base substitution C T downstream_gene_variant PACA-CA 7 23185879 23185879 single base substitution C T intron_variant PACA-CA 7 23187310 23187310 single base substitution G T downstream_gene_variant PACA-CA 7 23187310 23187310 single base substitution G T intron_variant PACA-CA 7 23190240 23190240 single base substitution A C intron_variant PACA-CA 7 23197784 23197784 single base substitution C A downstream_gene_variant PACA-CA 7 23197784 23197784 single base substitution C A intron_variant PACA-CA 7 23204703 23204703 single base substitution A G intron_variant PACA-CA 7 23204703 23204703 single base substitution A G upstream_gene_variant PACA-CA 7 23205777 23205777 insertion of <=200bp - T intron_variant PACA-CA 7 23206294 23206294 single base substitution G T intron_variant PACA-CA 7 23206652 23206652 single base substitution G A intron_variant PACA-CA 7 23207225 23207225 single base substitution A T intron_variant PACA-CA 7 23208613 23208613 single base substitution C T downstream_gene_variant PACA-CA 7 23208613 23208613 single base substitution C T intron_variant PACA-CA 7 23208613 23208613 single base substitution C T upstream_gene_variant PACA-CA 7 23209085 23209085 single base substitution C A downstream_gene_variant PACA-CA 7 23209085 23209085 single base substitution C A intron_variant PACA-CA 7 23209085 23209085 single base substitution C A upstream_gene_variant PACA-CA 7 23210671 23210671 single base substitution C T downstream_gene_variant PACA-CA 7 23210671 23210671 single base substitution C T intron_variant PACA-CA 7 23210671 23210671 single base substitution C T upstream_gene_variant PACA-CA 7 23214416 23214416 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 7 23214416 23214416 deletion of <=200bp A - downstream_gene_variant PACA-CA 7 23215340 23215340 single base substitution G A 3_prime_UTR_variant PACA-CA 7 23215340 23215340 single base substitution G A downstream_gene_variant PACA-CA 7 23216257 23216257 single base substitution C T 3_prime_UTR_variant PACA-CA 7 23216257 23216257 single base substitution C T downstream_gene_variant PACA-CA 7 23220095 23220095 single base substitution C T downstream_gene_variant PACA-CA 7 23220286 23220286 single base substitution C G downstream_gene_variant PACA-CA 7 23221847 23221847 single base substitution C T downstream_gene_variant PAEN-AU 7 23211061 23211061 single base substitution C T downstream_gene_variant PAEN-AU 7 23211061 23211061 single base substitution C T intron_variant PAEN-AU 7 23211061 23211061 single base substitution C T upstream_gene_variant PAEN-IT 7 23180045 23180045 single base substitution G T intron_variant PAEN-IT 7 23180045 23180045 single base substitution G T upstream_gene_variant PBCA-DE 7 23140899 23140899 insertion of <=200bp - T upstream_gene_variant PBCA-DE 7 23143658 23143658 single base substitution C G upstream_gene_variant PBCA-DE 7 23146031 23146031 single base substitution G T 5_prime_UTR_variant PBCA-DE 7 23146031 23146031 single base substitution G T intron_variant PBCA-DE 7 23146031 23146031 single base substitution G T upstream_gene_variant PBCA-DE 7 23155171 23155171 insertion of <=200bp - T intron_variant PBCA-DE 7 23155171 23155171 insertion of <=200bp - T upstream_gene_variant PBCA-DE 7 23163869 23163869 single base substitution T G intron_variant PBCA-DE 7 23163869 23163869 single base substitution T G upstream_gene_variant PBCA-DE 7 23176730 23176730 single base substitution C T intron_variant PBCA-DE 7 23192094 23192094 single base substitution G T intron_variant PBCA-DE 7 23195068 23195070 deletion of <=200bp GGT - intron_variant PBCA-DE 7 23195068 23195071 deletion of <=200bp GGTC - intron_variant PBCA-DE 7 23195072 23195072 deletion of <=200bp A - intron_variant PBCA-DE 7 23201207 23201207 single base substitution G A intron_variant PBCA-DE 7 23201207 23201207 single base substitution G A upstream_gene_variant PBCA-DE 7 23208969 23208969 single base substitution G C downstream_gene_variant PBCA-DE 7 23208969 23208969 single base substitution G C intron_variant PBCA-DE 7 23208969 23208969 single base substitution G C upstream_gene_variant PBCA-DE 7 23208980 23208980 single base substitution G T downstream_gene_variant PBCA-DE 7 23208980 23208980 single base substitution G T intron_variant PBCA-DE 7 23208980 23208980 single base substitution G T upstream_gene_variant PBCA-DE 7 23218010 23218011 deletion of <=200bp CT - downstream_gene_variant PBCA-DE 7 23221104 23221104 single base substitution T A downstream_gene_variant PRAD-CA 7 23169015 23169015 single base substitution C T downstream_gene_variant PRAD-CA 7 23169015 23169015 single base substitution C T intron_variant PRAD-CA 7 23222155 23222155 single base substitution G C downstream_gene_variant PRAD-UK 7 23146030 23146030 single base substitution G A 5_prime_UTR_variant PRAD-UK 7 23146030 23146030 single base substitution G A intron_variant PRAD-UK 7 23146030 23146030 single base substitution G A upstream_gene_variant PRAD-UK 7 23156976 23156976 single base substitution T G intron_variant PRAD-UK 7 23156976 23156976 single base substitution T G upstream_gene_variant PRAD-UK 7 23160015 23160015 insertion of <=200bp - T intron_variant PRAD-UK 7 23160015 23160015 insertion of <=200bp - T upstream_gene_variant PRAD-UK 7 23161451 23161451 single base substitution A G intron_variant PRAD-UK 7 23161451 23161451 single base substitution A G upstream_gene_variant PRAD-UK 7 23161523 23161523 single base substitution A G intron_variant PRAD-UK 7 23161523 23161523 single base substitution A G upstream_gene_variant PRAD-UK 7 23162258 23162258 single base substitution A C intron_variant PRAD-UK 7 23162258 23162258 single base substitution A C upstream_gene_variant PRAD-UK 7 23167543 23167543 single base substitution G A downstream_gene_variant PRAD-UK 7 23167543 23167543 single base substitution G A intron_variant PRAD-UK 7 23170689 23170689 single base substitution G T intron_variant PRAD-UK 7 23182288 23182288 single base substitution A G downstream_gene_variant PRAD-UK 7 23182288 23182288 single base substitution A G intron_variant PRAD-UK 7 23182288 23182288 single base substitution A G upstream_gene_variant PRAD-UK 7 23187007 23187007 single base substitution C T downstream_gene_variant PRAD-UK 7 23187007 23187007 single base substitution C T intron_variant PRAD-UK 7 23197953 23197953 single base substitution G A downstream_gene_variant PRAD-UK 7 23197953 23197953 single base substitution G A intron_variant PRAD-UK 7 23206494 23206494 single base substitution A G intron_variant PRAD-UK 7 23208156 23208156 single base substitution A T downstream_gene_variant PRAD-UK 7 23208156 23208156 single base substitution A T intron_variant PRAD-UK 7 23208156 23208156 single base substitution A T upstream_gene_variant PRAD-UK 7 23209063 23209063 single base substitution A G downstream_gene_variant PRAD-UK 7 23209063 23209063 single base substitution A G intron_variant PRAD-UK 7 23209063 23209063 single base substitution A G upstream_gene_variant PRAD-UK 7 23216664 23216664 single base substitution T A 3_prime_UTR_variant PRAD-UK 7 23216664 23216664 single base substitution T A downstream_gene_variant PRAD-US 7 23164685 23164685 single base substitution C G 3_prime_UTR_variant PRAD-US 7 23164685 23164685 single base substitution C G exon_variant PRAD-US 7 23164685 23164685 single base substitution C G intron_variant PRAD-US 7 23164685 23164685 single base substitution C G missense_variant N112K 336C>G PRAD-US 7 23164685 23164685 single base substitution C G missense_variant N36K 108C>G PRAD-US 7 23164685 23164685 single base substitution C G missense_variant N64K 192C>G PRAD-US 7 23164685 23164685 single base substitution C G missense_variant N90K 270C>G PRAD-US 7 23207467 23207468 deletion of <=200bp TG - 3_prime_UTR_variant PRAD-US 7 23207467 23207468 deletion of <=200bp TG - exon_variant PRAD-US 7 23207467 23207468 deletion of <=200bp TG - frameshift_variant L172 PRAD-US 7 23207467 23207468 deletion of <=200bp TG - frameshift_variant L321 PRAD-US 7 23207467 23207468 deletion of <=200bp TG - frameshift_variant L349 PRAD-US 7 23207467 23207468 deletion of <=200bp TG - frameshift_variant L375 PRAD-US 7 23207467 23207468 deletion of <=200bp TG - frameshift_variant L397 PRAD-US 7 23207467 23207468 deletion of <=200bp TG - upstream_gene_variant PRAD-US 7 23207656 23207656 single base substitution C G exon_variant PRAD-US 7 23207656 23207656 single base substitution C G missense_variant T235R 704C>G PRAD-US 7 23207656 23207656 single base substitution C G missense_variant T384R 1151C>G PRAD-US 7 23207656 23207656 single base substitution C G missense_variant T412R 1235C>G PRAD-US 7 23207656 23207656 single base substitution C G missense_variant T438R 1313C>G PRAD-US 7 23207656 23207656 single base substitution C G missense_variant T460R 1379C>G PRAD-US 7 23207656 23207656 single base substitution C G splice_region_variant PRAD-US 7 23207656 23207656 single base substitution C G upstream_gene_variant RECA-EU 7 23147838 23147838 single base substitution C A intron_variant RECA-EU 7 23156814 23156814 single base substitution C G intron_variant RECA-EU 7 23156814 23156814 single base substitution C G upstream_gene_variant RECA-EU 7 23210932 23210932 single base substitution A G downstream_gene_variant RECA-EU 7 23210932 23210932 single base substitution A G intron_variant RECA-EU 7 23210932 23210932 single base substitution A G upstream_gene_variant RECA-EU 7 23213325 23213325 single base substitution A G intron_variant RECA-EU 7 23214253 23214253 single base substitution G A 3_prime_UTR_variant RECA-EU 7 23214253 23214253 single base substitution G A downstream_gene_variant SKCA-BR 7 23142413 23142413 single base substitution G A upstream_gene_variant SKCA-BR 7 23148157 23148157 single base substitution C T intron_variant SKCA-BR 7 23148158 23148158 single base substitution C T intron_variant SKCA-BR 7 23149388 23149388 single base substitution T C intron_variant SKCA-BR 7 23151563 23151563 single base substitution C T intron_variant SKCA-BR 7 23153917 23153917 single base substitution G A intron_variant SKCA-BR 7 23153917 23153917 single base substitution G A upstream_gene_variant SKCA-BR 7 23155362 23155362 single base substitution C T intron_variant SKCA-BR 7 23155362 23155362 single base substitution C T upstream_gene_variant SKCA-BR 7 23155810 23155810 single base substitution C T intron_variant SKCA-BR 7 23155810 23155810 single base substitution C T upstream_gene_variant SKCA-BR 7 23160545 23160545 single base substitution C T intron_variant SKCA-BR 7 23160545 23160545 single base substitution C T upstream_gene_variant SKCA-BR 7 23161299 23161299 insertion of <=200bp - CT intron_variant SKCA-BR 7 23161299 23161299 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 7 23161756 23161756 single base substitution C T intron_variant SKCA-BR 7 23161756 23161756 single base substitution C T upstream_gene_variant SKCA-BR 7 23165551 23165551 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 23165551 23165551 single base substitution G A downstream_gene_variant SKCA-BR 7 23165551 23165551 single base substitution G A exon_variant SKCA-BR 7 23165551 23165551 single base substitution G A intron_variant SKCA-BR 7 23167406 23167406 single base substitution T A downstream_gene_variant SKCA-BR 7 23167406 23167406 single base substitution T A intron_variant SKCA-BR 7 23167642 23167642 single base substitution C T downstream_gene_variant SKCA-BR 7 23167642 23167642 single base substitution C T intron_variant SKCA-BR 7 23168071 23168071 single base substitution G A downstream_gene_variant SKCA-BR 7 23168071 23168071 single base substitution G A intron_variant SKCA-BR 7 23168513 23168513 single base substitution C T downstream_gene_variant SKCA-BR 7 23168513 23168513 single base substitution C T intron_variant SKCA-BR 7 23184553 23184553 insertion of <=200bp - CAA downstream_gene_variant SKCA-BR 7 23184553 23184553 insertion of <=200bp - CAA intron_variant SKCA-BR 7 23190771 23190771 insertion of <=200bp - GTTTTTT intron_variant SKCA-BR 7 23191494 23191495 deletion of <=200bp TA - intron_variant SKCA-BR 7 23191497 23191497 single base substitution A T intron_variant SKCA-BR 7 23191498 23191499 deletion of <=200bp TG - intron_variant SKCA-BR 7 23191499 23191499 single base substitution G T intron_variant SKCA-BR 7 23191810 23191810 single base substitution T A 3_prime_UTR_variant SKCA-BR 7 23191810 23191810 single base substitution T A stop_gained C230* 690T>A SKCA-BR 7 23191810 23191810 single base substitution T A stop_gained C258* 774T>A SKCA-BR 7 23191810 23191810 single base substitution T A stop_gained C284* 852T>A SKCA-BR 7 23191810 23191810 single base substitution T A stop_gained C306* 918T>A SKCA-BR 7 23191810 23191810 single base substitution T A stop_gained C74* 222T>A SKCA-BR 7 23191810 23191810 single base substitution T A stop_gained C81* 243T>A SKCA-BR 7 23192849 23192849 single base substitution G A intron_variant SKCA-BR 7 23194342 23194342 single base substitution C T intron_variant SKCA-BR 7 23195279 23195279 insertion of <=200bp - CA intron_variant SKCA-BR 7 23198107 23198107 single base substitution A G downstream_gene_variant SKCA-BR 7 23198107 23198107 single base substitution A G intron_variant SKCA-BR 7 23199654 23199654 single base substitution C T downstream_gene_variant SKCA-BR 7 23199654 23199654 single base substitution C T intron_variant SKCA-BR 7 23202913 23202913 single base substitution C T intron_variant SKCA-BR 7 23202913 23202913 single base substitution C T upstream_gene_variant SKCA-BR 7 23203706 23203707 deletion of <=200bp AT - intron_variant SKCA-BR 7 23203706 23203707 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 7 23204088 23204088 single base substitution C T intron_variant SKCA-BR 7 23204088 23204088 single base substitution C T upstream_gene_variant SKCA-BR 7 23204457 23204457 single base substitution C T intron_variant SKCA-BR 7 23204457 23204457 single base substitution C T upstream_gene_variant SKCA-BR 7 23210526 23210526 insertion of <=200bp - CTTT downstream_gene_variant SKCA-BR 7 23210526 23210526 insertion of <=200bp - CTTT intron_variant SKCA-BR 7 23210526 23210526 insertion of <=200bp - CTTT upstream_gene_variant SKCA-BR 7 23216174 23216174 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 23216174 23216174 single base substitution C T downstream_gene_variant SKCA-BR 7 23216293 23216293 insertion of <=200bp - TA 3_prime_UTR_variant SKCA-BR 7 23216293 23216293 insertion of <=200bp - TA downstream_gene_variant SKCM-US 7 23164672 23164672 single base substitution C T 3_prime_UTR_variant SKCM-US 7 23164672 23164672 single base substitution C T exon_variant SKCM-US 7 23164672 23164672 single base substitution C T intron_variant SKCM-US 7 23164672 23164672 single base substitution C T missense_variant S108F 323C>T SKCM-US 7 23164672 23164672 single base substitution C T missense_variant S32F 95C>T SKCM-US 7 23164672 23164672 single base substitution C T missense_variant S60F 179C>T SKCM-US 7 23164672 23164672 single base substitution C T missense_variant S86F 257C>T SKCM-US 7 23164757 23164757 single base substitution T C 3_prime_UTR_variant SKCM-US 7 23164757 23164757 single base substitution T C exon_variant SKCM-US 7 23164757 23164757 single base substitution T C intron_variant SKCM-US 7 23164757 23164757 single base substitution T C synonymous_variant F114F 342T>C SKCM-US 7 23164757 23164757 single base substitution T C synonymous_variant F136F 408T>C SKCM-US 7 23164757 23164757 single base substitution T C synonymous_variant F60F 180T>C SKCM-US 7 23164757 23164757 single base substitution T C synonymous_variant F88F 264T>C SKCM-US 7 23180540 23180540 single base substitution C G 3_prime_UTR_variant SKCM-US 7 23180540 23180540 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 7 23180540 23180540 single base substitution C G downstream_gene_variant SKCM-US 7 23180540 23180540 single base substitution C G exon_variant SKCM-US 7 23180540 23180540 single base substitution C G missense_variant L123V 367C>G SKCM-US 7 23180540 23180540 single base substitution C G missense_variant L151V 451C>G SKCM-US 7 23180540 23180540 single base substitution C G missense_variant L177V 529C>G SKCM-US 7 23180540 23180540 single base substitution C G missense_variant L199V 595C>G SKCM-US 7 23180540 23180540 single base substitution C G upstream_gene_variant SKCM-US 7 23183515 23183515 single base substitution C T 3_prime_UTR_variant SKCM-US 7 23183515 23183515 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 7 23183515 23183515 single base substitution C T downstream_gene_variant SKCM-US 7 23183515 23183515 single base substitution C T exon_variant SKCM-US 7 23183515 23183515 single base substitution C T missense_variant R146C 436C>T SKCM-US 7 23183515 23183515 single base substitution C T missense_variant R174C 520C>T SKCM-US 7 23183515 23183515 single base substitution C T missense_variant R200C 598C>T SKCM-US 7 23183515 23183515 single base substitution C T missense_variant R222C 664C>T SKCM-US 7 23183515 23183515 single base substitution C T upstream_gene_variant SKCM-US 7 23183560 23183560 single base substitution C T 3_prime_UTR_variant SKCM-US 7 23183560 23183560 single base substitution C T downstream_gene_variant SKCM-US 7 23183560 23183560 single base substitution C T missense_variant L12F 34C>T SKCM-US 7 23183560 23183560 single base substitution C T missense_variant L161F 481C>T SKCM-US 7 23183560 23183560 single base substitution C T missense_variant L189F 565C>T SKCM-US 7 23183560 23183560 single base substitution C T missense_variant L215F 643C>T SKCM-US 7 23183560 23183560 single base substitution C T missense_variant L237F 709C>T SKCM-US 7 23183560 23183560 single base substitution C T missense_variant L5F 13C>T SKCM-US 7 23191727 23191727 single base substitution G A 3_prime_UTR_variant SKCM-US 7 23191727 23191727 single base substitution G A missense_variant E203K 607G>A SKCM-US 7 23191727 23191727 single base substitution G A missense_variant E231K 691G>A SKCM-US 7 23191727 23191727 single base substitution G A missense_variant E257K 769G>A SKCM-US 7 23191727 23191727 single base substitution G A missense_variant E279K 835G>A SKCM-US 7 23191727 23191727 single base substitution G A missense_variant E47K 139G>A SKCM-US 7 23191727 23191727 single base substitution G A missense_variant E54K 160G>A SKCM-US 7 23213840 23213840 single base substitution C T 3_prime_UTR_variant SKCM-US 7 23213840 23213840 single base substitution C T downstream_gene_variant SKCM-US 7 23213840 23213840 single base substitution C T missense_variant R337C 1009C>T SKCM-US 7 23213840 23213840 single base substitution C T missense_variant R486C 1456C>T SKCM-US 7 23213840 23213840 single base substitution C T missense_variant R514C 1540C>T SKCM-US 7 23213840 23213840 single base substitution C T missense_variant R540C 1618C>T SKCM-US 7 23213840 23213840 single base substitution C T missense_variant R562C 1684C>T STAD-US 7 23164385 23164385 single base substitution T C 3_prime_UTR_variant STAD-US 7 23164385 23164385 single base substitution T C exon_variant STAD-US 7 23164385 23164385 single base substitution T C intron_variant STAD-US 7 23164385 23164385 single base substitution T C missense_variant F101S 302T>C STAD-US 7 23164385 23164385 single base substitution T C missense_variant F25S 74T>C STAD-US 7 23164385 23164385 single base substitution T C missense_variant F53S 158T>C STAD-US 7 23164385 23164385 single base substitution T C missense_variant F79S 236T>C STAD-US 7 23164385 23164385 single base substitution T C upstream_gene_variant STAD-US 7 23164720 23164720 single base substitution A G 3_prime_UTR_variant STAD-US 7 23164720 23164720 single base substitution A G exon_variant STAD-US 7 23164720 23164720 single base substitution A G intron_variant STAD-US 7 23164720 23164720 single base substitution A G missense_variant Y102C 305A>G STAD-US 7 23164720 23164720 single base substitution A G missense_variant Y124C 371A>G STAD-US 7 23164720 23164720 single base substitution A G missense_variant Y48C 143A>G STAD-US 7 23164720 23164720 single base substitution A G missense_variant Y76C 227A>G STAD-US 7 23164754 23164754 insertion of <=200bp - T 3_prime_UTR_variant STAD-US 7 23164754 23164754 insertion of <=200bp - T exon_variant STAD-US 7 23164754 23164754 insertion of <=200bp - T frameshift_variant D113D? STAD-US 7 23164754 23164754 insertion of <=200bp - T frameshift_variant D135D? STAD-US 7 23164754 23164754 insertion of <=200bp - T frameshift_variant D59D? STAD-US 7 23164754 23164754 insertion of <=200bp - T frameshift_variant D87D? STAD-US 7 23164754 23164754 insertion of <=200bp - T intron_variant STAD-US 7 23183596 23183596 single base substitution G C 3_prime_UTR_variant STAD-US 7 23183596 23183596 single base substitution G C downstream_gene_variant STAD-US 7 23183596 23183596 single base substitution G C missense_variant A173P 517G>C STAD-US 7 23183596 23183596 single base substitution G C missense_variant A17P 49G>C STAD-US 7 23183596 23183596 single base substitution G C missense_variant A201P 601G>C STAD-US 7 23183596 23183596 single base substitution G C missense_variant A227P 679G>C STAD-US 7 23183596 23183596 single base substitution G C missense_variant A249P 745G>C STAD-US 7 23183596 23183596 single base substitution G C missense_variant A24P 70G>C STAD-US 7 23191791 23191791 single base substitution G C 3_prime_UTR_variant STAD-US 7 23191791 23191791 single base substitution G C missense_variant G224A 671G>C STAD-US 7 23191791 23191791 single base substitution G C missense_variant G252A 755G>C STAD-US 7 23191791 23191791 single base substitution G C missense_variant G278A 833G>C STAD-US 7 23191791 23191791 single base substitution G C missense_variant G300A 899G>C STAD-US 7 23191791 23191791 single base substitution G C missense_variant G68A 203G>C STAD-US 7 23191791 23191791 single base substitution G C missense_variant G75A 224G>C STAD-US 7 23205329 23205329 single base substitution A G 3_prime_UTR_variant STAD-US 7 23205329 23205329 single base substitution A G missense_variant T241A 721A>G STAD-US 7 23205329 23205329 single base substitution A G missense_variant T269A 805A>G STAD-US 7 23205329 23205329 single base substitution A G missense_variant T295A 883A>G STAD-US 7 23205329 23205329 single base substitution A G missense_variant T317A 949A>G STAD-US 7 23205329 23205329 single base substitution A G missense_variant T92A 274A>G STAD-US 7 23205329 23205329 single base substitution A G upstream_gene_variant STAD-US 7 23205486 23205486 single base substitution C T 3_prime_UTR_variant STAD-US 7 23205486 23205486 single base substitution C T missense_variant P144L 431C>T STAD-US 7 23205486 23205486 single base substitution C T missense_variant P293L 878C>T STAD-US 7 23205486 23205486 single base substitution C T missense_variant P321L 962C>T STAD-US 7 23205486 23205486 single base substitution C T missense_variant P347L 1040C>T STAD-US 7 23205486 23205486 single base substitution C T missense_variant P369L 1106C>T STAD-US 7 23205486 23205486 single base substitution C T upstream_gene_variant STAD-US 7 23221774 23221774 single base substitution G C downstream_gene_variant UCEC-US 7 23145721 23145721 single base substitution T G 5_prime_UTR_variant UCEC-US 7 23145721 23145721 single base substitution T G exon_variant UCEC-US 7 23145721 23145721 single base substitution T G missense_variant L26V 76T>G UCEC-US 7 23145721 23145721 single base substitution T G upstream_gene_variant UCEC-US 7 23164783 23164783 single base substitution A G 3_prime_UTR_variant UCEC-US 7 23164783 23164783 single base substitution A G exon_variant UCEC-US 7 23164783 23164783 single base substitution A G intron_variant UCEC-US 7 23164783 23164783 single base substitution A G missense_variant N123S 368A>G UCEC-US 7 23164783 23164783 single base substitution A G missense_variant N145S 434A>G UCEC-US 7 23164783 23164783 single base substitution A G missense_variant N69S 206A>G UCEC-US 7 23164783 23164783 single base substitution A G missense_variant N97S 290A>G UCEC-US 7 23180389 23180389 single base substitution T C splice_region_variant UCEC-US 7 23180389 23180389 single base substitution T C upstream_gene_variant UCEC-US 7 23183577 23183577 single base substitution C A 3_prime_UTR_variant UCEC-US 7 23183577 23183577 single base substitution C A downstream_gene_variant UCEC-US 7 23183577 23183577 single base substitution C A missense_variant F10L 30C>A UCEC-US 7 23183577 23183577 single base substitution C A missense_variant F166L 498C>A UCEC-US 7 23183577 23183577 single base substitution C A missense_variant F17L 51C>A UCEC-US 7 23183577 23183577 single base substitution C A missense_variant F194L 582C>A UCEC-US 7 23183577 23183577 single base substitution C A missense_variant F220L 660C>A UCEC-US 7 23183577 23183577 single base substitution C A missense_variant F242L 726C>A UCEC-US 7 23205431 23205431 single base substitution C T 3_prime_UTR_variant UCEC-US 7 23205431 23205431 single base substitution C T stop_gained R126* 376C>T UCEC-US 7 23205431 23205431 single base substitution C T stop_gained R275* 823C>T UCEC-US 7 23205431 23205431 single base substitution C T stop_gained R303* 907C>T UCEC-US 7 23205431 23205431 single base substitution C T stop_gained R329* 985C>T UCEC-US 7 23205431 23205431 single base substitution C T stop_gained R351* 1051C>T UCEC-US 7 23205431 23205431 single base substitution C T upstream_gene_variant UCEC-US 7 23205471 23205471 single base substitution C T 3_prime_UTR_variant UCEC-US 7 23205471 23205471 single base substitution C T missense_variant S139L 416C>T UCEC-US 7 23205471 23205471 single base substitution C T missense_variant S288L 863C>T UCEC-US 7 23205471 23205471 single base substitution C T missense_variant S316L 947C>T UCEC-US 7 23205471 23205471 single base substitution C T missense_variant S342L 1025C>T UCEC-US 7 23205471 23205471 single base substitution C T missense_variant S364L 1091C>T UCEC-US 7 23205471 23205471 single base substitution C T upstream_gene_variant UCEC-US 7 23213674 23213674 single base substitution C T 3_prime_UTR_variant UCEC-US 7 23213674 23213674 single base substitution C T exon_variant UCEC-US 7 23213674 23213674 single base substitution C T synonymous_variant N281N 843C>T UCEC-US 7 23213674 23213674 single base substitution C T synonymous_variant N430N 1290C>T UCEC-US 7 23213674 23213674 single base substitution C T synonymous_variant N458N 1374C>T UCEC-US 7 23213674 23213674 single base substitution C T synonymous_variant N484N 1452C>T UCEC-US 7 23213674 23213674 single base substitution C T synonymous_variant N506N 1518C>T UCEC-US 7 23213806 23213806 single base substitution C T 3_prime_UTR_variant UCEC-US 7 23213806 23213806 single base substitution C T exon_variant UCEC-US 7 23213806 23213806 single base substitution C T synonymous_variant T325T 975C>T UCEC-US 7 23213806 23213806 single base substitution C T synonymous_variant T474T 1422C>T UCEC-US 7 23213806 23213806 single base substitution C T synonymous_variant T502T 1506C>T UCEC-US 7 23213806 23213806 single base substitution C T synonymous_variant T528T 1584C>T UCEC-US 7 23213806 23213806 single base substitution C T synonymous_variant T550T 1650C>T UCEC-US 7 23221797 23221797 insertion of <=200bp - CGGCAGCAACCG downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESCC_54 COSM5631578 c.1379+1G>A p.? Unknown 7:23168038-23168038 + TCGA-CG-5723-01 COSM3880243 c.236T>C p.F79S Substitution - Missense 7:23124766-23124766 + YULONE COSM5407245 c.1572C>T p.L524L Substitution - coding silent 7:23174175-23174175 + TCGA-EJ-5530-01 COSM1131614 c.336C>G p.N112K Substitution - Missense 7:23125066-23125066 + TCGA-34-2596-01 COSM746409 c.1136C>T p.A379V Substitution - Missense 7:23165897-23165897 + TCGA-AA-A00K-01 COSM298464 c.524A>G p.D175G Substitution - Missense 7:23140916-23140916 + 3N47-VS-3T47 COSM4982643 c.1603G>A p.A535T Substitution - Missense 7:23174206-23174206 + TCGA-06-0126-01 COSM2149454 c.70G>A p.V24M Substitution - Missense 7:23123792-23123792 + TCGA-BH-A0HA-01 COSM452860 c.31_33delAAG p.K11delK Deletion - In frame 7:23106057-23106059 + TCGA-A8-A08G-01 COSM452864 c.1320T>G p.T440T Substitution - coding silent 7:23172954-23172954 + TCGA-34-2596-01 COSM746410 c.1070C>T p.A357V Substitution - Missense 7:23165897-23165897 + TCGA-EE-A3JD-06 COSM3026097 c.1618C>T p.R540C Substitution - Missense 7:23174221-23174221 + LUAD-S01304 COSM385503 c.424G>C p.D142H Substitution - Missense 7:23125154-23125154 + TCGA-P5-A5F4-01 COSM4908797 c.1727C>G p.T576S Substitution - Missense 7:23174264-23174264 + SW48 COSM3026027 c.248C>T p.A83V Substitution - Missense 7:23124778-23124778 + T3145 COSM4696604 c.1585G>A p.E529K Substitution - Missense 7:23174188-23174188 + CSB22 COSM5026722 c.402A>G p.L134L Substitution - coding silent 7:23140794-23140794 + TCGA-D1-A103-01 COSM1088574 c.1452C>T p.N484N Substitution - coding silent 7:23174055-23174055 + BD57T COSM1088569 c.1051C>T p.R351* Substitution - Nonsense 7:23165812-23165812 + STC252 COSM5062393 c.1544C>A p.P515Q Substitution - Missense 7:23174081-23174081 + 5T COSM3715633 c.1070T>A p.V357E Substitution - Missense 7:23165831-23165831 + TCGA-CM-5861-01 COSM5158267 c.1647T>A p.N549K Substitution - Missense 7:23174184-23174184 + TCGA-AP-A0LM-01 COSM1088570 c.985C>T p.R329* Substitution - Nonsense 7:23165812-23165812 + YUSMI COSM5407241 c.712C>T p.L238F Substitution - Missense 7:23144010-23144010 + Pat_26_A COSM5872480 c.224-1G>C p.? Unknown 7:23124687-23124687 + ICGC_0030 COSM1158924 c.711T>C p.L237L Substitution - coding silent 7:23143943-23143943 + TCGA-ER-A2NG-06 COSM3637502 c.595C>G p.L199V Substitution - Missense 7:23140921-23140921 + HCC075T COSM5822026 c.244T>A p.S82T Substitution - Missense 7:23124708-23124708 + 06-P2007 COSM4587324 c.990A>C p.A330A Substitution - coding silent 7:23165751-23165751 + TCGA-04-1331-01 COSM116911 c.1604C>G p.A535G Substitution - Missense 7:23174207-23174207 + 16T COSM3718783 c.234_235insGA p.S80fs*7 Insertion - Frameshift 7:23124698-23124699 + HT115 COSM3026091 c.1530C>A p.V510V Substitution - coding silent 7:23174133-23174133 + TCGA-B5-A11N-01 COSM1088572 c.1025C>T p.S342L Substitution - Missense 7:23165852-23165852 + C467 COSM3026057 c.926G>A p.C309Y Substitution - Missense 7:23165753-23165753 + OSCC-GB_00050111 COSM3715634 c.1004T>A p.V335E Substitution - Missense 7:23165831-23165831 + YULOCUS COSM5407237 c.294G>T p.L98L Substitution - coding silent 7:23124758-23124758 + T2999 COSM4696596 c.664C>A p.R222S Substitution - Missense 7:23143896-23143896 + SW948 COSM3026065 c.1053C>T p.D351D Substitution - coding silent 7:23165880-23165880 + Au2 COSM5599794 c.36G>A p.K12K Substitution - coding silent 7:23106062-23106062 + C10 COSM1755219 c.1469C>T p.S490L Substitution - Missense 7:23174072-23174072 + TCGA-DD-A3A7-01 COSM4916248 c.1184T>C p.L395P Substitution - Missense 7:23167908-23167908 + SWE-53 COSM1180399 c.537G>A p.V179V Substitution - coding silent 7:23140929-23140929 + S02322 COSM5691549 c.490G>C p.D164H Substitution - Missense 7:23140882-23140882 + STC297 COSM5062392 c.715A>G p.K239E Substitution - Missense 7:23144013-23144013 + TCGA-FS-A1ZC-06 COSM3637500 c.342T>C p.F114F Substitution - coding silent 7:23125138-23125138 + T3535 COSM4696599 c.893G>A p.R298H Substitution - Missense 7:23165720-23165720 + TCGA-46-3768-01 COSM746407 c.1296C>G p.I432M Substitution - Missense 7:23167954-23167954 + TCGA-46-3768-01 COSM746408 c.1230C>G p.I410M Substitution - Missense 7:23167954-23167954 + LC_S19 COSM1187269 c.1229G>T p.W410L Substitution - Missense 7:23167887-23167887 + LUAD-NYU696 COSM376106 c.886G>C p.A296P Substitution - Missense 7:23152159-23152159 + T2940 COSM4696601 c.1339G>A p.V447M Substitution - Missense 7:23167997-23167997 + TCGA-DD-A3A7-01 COSM4916247 c.1250T>C p.L417P Substitution - Missense 7:23167908-23167908 + TCGA-06-0126-01 COSM2149453 c.136G>A p.V46M Substitution - Missense 7:23123792-23123792 + LUAD-NYU696 COSM376107 c.820G>C p.A274P Substitution - Missense 7:23152159-23152159 + TCGA-A3-3346-01 COSM1496639 c.443-2A>T p.? Unknown 7:23140767-23140767 + T3535 COSM4696598 c.959G>A p.R320H Substitution - Missense 7:23165720-23165720 + PD23574a COSM5771372 c.45A>G p.I15M Substitution - Missense 7:23117955-23117955 + TCGA-EJ-7125-01 COSM3674904 c.814C>A p.R272S Substitution - Missense 7:23152153-23152153 + sysucc-1317T COSM5450370 c.1536A>G p.S512S Substitution - coding silent 7:23174073-23174073 + TCGA-P5-A5F4-01 COSM4908798 c.1661C>G p.T554S Substitution - Missense 7:23174264-23174264 + YULOCUS COSM5407238 c.228G>T p.L76L Substitution - coding silent 7:23124758-23124758 + TCGA-B0-5098-01 COSM1496635 c.905A>G p.Q302R Substitution - Missense 7:23152178-23152178 + TCGA-AP-A054-01 COSM1088561 c.434A>G p.N145S Substitution - Missense 7:23125164-23125164 + TCGA-EB-A5UM-01 COSM3637508 c.835G>A p.E279K Substitution - Missense 7:23152108-23152108 + B101-Tumor COSM1755218 c.1535C>T p.S512L Substitution - Missense 7:23174072-23174072 + 2492703 COSM5599794 c.36G>A p.K12K Substitution - coding silent 7:23106062-23106062 + YURUS COSM1698413 c.1543C>T p.P515S Substitution - Missense 7:23174080-23174080 + TCGA-A3-3346-01 COSM1496638 c.379A>T p.I127L Substitution - Missense 7:23140771-23140771 + TCGA-EB-A5UM-01 COSM141195 c.769G>A p.E257K Substitution - Missense 7:23152108-23152108 + RK308_C01 COSM3768324 c.1517A>G p.N506S Substitution - Missense 7:23174054-23174054 + LS411 COSM746412 c.927C>T p.C309C Substitution - coding silent 7:23165754-23165754 + SW948 COSM3026064 c.1119C>T p.D373D Substitution - coding silent 7:23165880-23165880 + TCGA-06-0126 COSM2149454 c.70G>A p.V24M Substitution - Missense 7:23123792-23123792 + B101 COSM1755218 c.1535C>T p.S512L Substitution - Missense 7:23174072-23174072 + TCGA-EE-A2GC-06 COSM3637496 c.323C>T p.S108F Substitution - Missense 7:23125053-23125053 + YUAKER COSM1698411 c.175C>T p.R59C Substitution - Missense 7:23123831-23123831 + BD57T COSM1088570 c.985C>T p.R329* Substitution - Nonsense 7:23165812-23165812 + BRC47 COSM5026719 c.118C>T p.L40F Substitution - Missense 7:23123840-23123840 + 2492700 COSM5599794 c.36G>A p.K12K Substitution - coding silent 7:23106062-23106062 + SNU-175 COSM3026055 c.892C>T p.R298C Substitution - Missense 7:23165719-23165719 + YULONE COSM5407244 c.1638C>T p.L546L Substitution - coding silent 7:23174175-23174175 + C467 COSM3026056 c.992G>A p.C331Y Substitution - Missense 7:23165753-23165753 + YUROG COSM5407242 c.1331C>T p.S444F Substitution - Missense 7:23167989-23167989 + TCGA-HU-A4G6-01 COSM3880250 c.745G>C p.A249P Substitution - Missense 7:23143977-23143977 + NOKSI COSM4596150 c.1135G>T p.E379* Substitution - Nonsense 7:23167859-23167859 + 2492729 COSM5726135 c.86G>A p.G29D Substitution - Missense 7:23106112-23106112 + sysucc-311T COSM5467106 c.377-10C>A p.? Unknown 7:23140759-23140759 + TCGA-EW-A1J5-01 COSM1488472 c.516C>A p.L172L Substitution - coding silent 7:23140908-23140908 + LS411 COSM3026093 c.1553G>A p.G518D Substitution - Missense 7:23174156-23174156 + T578 COSM4696594 c.349G>T p.E117* Substitution - Nonsense 7:23125145-23125145 + TCGA-A8-A06R-01 COSM452862 c.83T>G p.V28G Substitution - Missense 7:23123805-23123805 + TCGA-BP-4770-01 COSM485206 c.1201G>A p.E401K Substitution - Missense 7:23167859-23167859 + TCGA-BS-A0UF-01 COSM1088556 c.76T>G p.L26V Substitution - Missense 7:23106102-23106102 + J13_T COSM3950350 c.200A>T p.D67V Substitution - Missense 7:23124730-23124730 + SW48 COSM3026059 c.928G>A p.V310M Substitution - Missense 7:23165755-23165755 + TCGA-G2-A2EK-01 COSM1312969 c.355G>A p.D119N Substitution - Missense 7:23125085-23125085 + T3145 COSM4696603 c.1651G>A p.E551K Substitution - Missense 7:23174188-23174188 + HT29 COSM3026044 c.513G>A p.Q171Q Substitution - coding silent 7:23140839-23140839 + TCGA-A3-3346-01 COSM1496637 c.445A>T p.I149L Substitution - Missense 7:23140771-23140771 + TCGA-HU-A4G6-01 COSM3880251 c.679G>C p.A227P Substitution - Missense 7:23143977-23143977 + 16T COSM3718784 c.168_169insGA p.S58fs*7 Insertion - Frameshift 7:23124698-23124699 + TCGA-D9-A1JW-06 COSM3637504 c.664C>T p.R222C Substitution - Missense 7:23143896-23143896 + CSB22 COSM5026721 c.468A>G p.L156L Substitution - coding silent 7:23140794-23140794 + STC252 COSM5062394 c.1478C>A p.P493Q Substitution - Missense 7:23174081-23174081 + HCC2998 COSM3026086 c.1519G>A p.E507K Substitution - Missense 7:23174056-23174056 + T2269 COSM4696591 c.230T>C p.V77A Substitution - Missense 7:23124760-23124760 + TCGA-A8-A09I-01 COSM452865 c.1733G>A p.G578E Substitution - Missense 7:23174270-23174270 + 8034278 COSM1088570 c.985C>T p.R329* Substitution - Nonsense 7:23165812-23165812 + CSCC-5-T COSM4548819 c.391G>A p.A131T Substitution - Missense 7:23140783-23140783 + T2269 COSM4696590 c.296T>C p.V99A Substitution - Missense 7:23124760-23124760 + ESO-601 COSM1256004 c.1192C>T p.R398C Substitution - Missense 7:23167916-23167916 + TCGA-AP-A054-01 COSM1088562 c.368A>G p.N123S Substitution - Missense 7:23125164-23125164 + 39 COSM4778066 c.907C>A p.P303T Substitution - Missense 7:23152180-23152180 + RK308_C01 COSM275766 c.1451A>G p.N484S Substitution - Missense 7:23174054-23174054 + MD-054 COSM302507 c.981_982insTTC p.R327_D328insF Insertion - In frame 7:23165742-23165743 + TCGA-AK-3447-01 COSM1496639 c.443-2A>T p.? Unknown 7:23140767-23140767 + TCGA-60-2698-01 COSM746415 c.144C>T p.L48L Substitution - coding silent 7:23123800-23123800 + TCGA-EW-A1J5-01 COSM1488471 c.582C>A p.L194L Substitution - coding silent 7:23140908-23140908 + 8013142 COSM1158925 c.645T>C p.L215L Substitution - coding silent 7:23143943-23143943 + TCGA-AA-A00N-01 COSM275766 c.1451A>G p.N484S Substitution - Missense 7:23174054-23174054 + CSCC-5-T COSM4548818 c.457G>A p.A153T Substitution - Missense 7:23140783-23140783 + T15 COSM5345320 c.1023G>T p.L341F Substitution - Missense 7:23165784-23165784 + HT115 COSM3026096 c.1684C>T p.R562C Substitution - Missense 7:23174221-23174221 + BD242T COSM5495846 c.21G>A p.E7E Substitution - coding silent 7:23106047-23106047 + TCGA-AX-A0J0-01 COSM1088568 c.660C>A p.F220L Substitution - Missense 7:23143958-23143958 + TCGA-63-6202-01 COSM746412 c.927C>T p.C309C Substitution - coding silent 7:23165754-23165754 + TCGA-63-6202-01 COSM746411 c.993C>T p.C331C Substitution - coding silent 7:23165754-23165754 + TCGA-85-6561-01 COSM746414 c.500G>T p.R167L Substitution - Missense 7:23140892-23140892 + SWE-53 COSM1180398 c.603G>A p.V201V Substitution - coding silent 7:23140929-23140929 + TCGA-LP-A4AV-01 COSM4825207 c.337G>C p.D113H Substitution - Missense 7:23125133-23125133 + TCGA-AX-A0J0-01 COSM1088567 c.726C>A p.F242L Substitution - Missense 7:23143958-23143958 + 2492701 COSM5599794 c.36G>A p.K12K Substitution - coding silent 7:23106062-23106062 + TCGA-A8-A06R-01 COSM452861 c.149T>G p.V50G Substitution - Missense 7:23123805-23123805 + TCGA-AP-A0LM-01 COSM1088569 c.1051C>T p.R351* Substitution - Nonsense 7:23165812-23165812 + TCGA-DK-A1A5-01 COSM421495 c.478G>A p.E160K Substitution - Missense 7:23140804-23140804 + TCGA-D7-6815-01 COSM3880254 c.949A>G p.T317A Substitution - Missense 7:23165710-23165710 + TCGA-BR-7707-01 COSM3880257 c.1040C>T p.P347L Substitution - Missense 7:23165867-23165867 + CX-1 COSM3026044 c.513G>A p.Q171Q Substitution - coding silent 7:23140839-23140839 + 5T COSM3715634 c.1004T>A p.V335E Substitution - Missense 7:23165831-23165831 + SNU-175 COSM3026054 c.958C>T p.R320C Substitution - Missense 7:23165719-23165719 + TCGA-D1-A103-01 COSM1088573 c.1518C>T p.N506N Substitution - coding silent 7:23174055-23174055 + TCGA-AA-3685-01 COSM268179 c.1259A>G p.N420S Substitution - Missense 7:23167983-23167983 + sysucc-1370T COSM5472394 c.770C>A p.P257H Substitution - Missense 7:23144002-23144002 + YUMOKI COSM3026097 c.1618C>T p.R540C Substitution - Missense 7:23174221-23174221 + TCGA-B0-4852-01 COSM485205 c.688C>G p.L230V Substitution - Missense 7:23143986-23143986 + OSCC-GB_00050111 COSM3715633 c.1070T>A p.V357E Substitution - Missense 7:23165831-23165831 + TCGA-AA-A00J-01 COSM298360 c.2T>G p.M1R Substitution - Missense 7:23106028-23106028 + TCGA-LP-A4AV-01 COSM4825206 c.403G>C p.D135H Substitution - Missense 7:23125133-23125133 + HCC2998 COSM3026087 c.1453G>A p.E485K Substitution - Missense 7:23174056-23174056 + HT115 COSM3026097 c.1618C>T p.R540C Substitution - Missense 7:23174221-23174221 + SW1417 COSM3026100 c.1722C>T p.V574V Substitution - coding silent 7:23174259-23174259 + TCGA-BR-6452-01 COSM3880245 c.371A>G p.Y124C Substitution - Missense 7:23125101-23125101 + TCGA-QG-A5Z2-01 COSM1488475 c.1503C>T p.Y501Y Substitution - coding silent 7:23174040-23174040 + SNU-175 COSM3026084 c.1460G>A p.G487D Substitution - Missense 7:23173028-23173028 + GC_370T-GC_370N COSM4773057 c.6G>T p.L2L Substitution - coding silent 7:23117916-23117916 + SW48 COSM3026026 c.314C>T p.A105V Substitution - Missense 7:23124778-23124778 + LS180 COSM3026020 c.135C>T p.D45D Substitution - coding silent 7:23123791-23123791 + TCGA-EJ-7781-01 COSM1472078 c.1379C>G p.T460R Substitution - Missense 7:23168037-23168037 + TCGA-HU-A4GX-01 COSM3880252 c.899G>C p.G300A Substitution - Missense 7:23152172-23152172 + SNUH_G16_S1 COSM4004431 c.352C>A p.L118M Substitution - Missense 7:23125082-23125082 + CSCC-62-T COSM4505270 c.688C>T p.L230F Substitution - Missense 7:23143920-23143920 + TCGA-D7-6815-01 COSM3880255 c.883A>G p.T295A Substitution - Missense 7:23165710-23165710 + TCGA-CM-5348-01 COSM5157456 c.619-10T>C p.? Unknown 7:23143841-23143841 + 8034278 COSM1088569 c.1051C>T p.R351* Substitution - Nonsense 7:23165812-23165812 + I2L-P7-Tumor-Organoid COSM5358396 c.1148C>T p.T383M Substitution - Missense 7:23167872-23167872 + ICGC_0030 COSM1158925 c.645T>C p.L215L Substitution - coding silent 7:23143943-23143943 + TCGA-BR-7707-01 COSM3880256 c.1106C>T p.P369L Substitution - Missense 7:23165867-23165867 + STC297 COSM5062391 c.781A>G p.K261E Substitution - Missense 7:23144013-23144013 + T2999 COSM4696597 c.598C>A p.R200S Substitution - Missense 7:23143896-23143896 + T578 COSM4696593 c.415G>T p.E139* Substitution - Nonsense 7:23125145-23125145 + TCGA-EJ-5530-01 COSM1131615 c.270C>G p.N90K Substitution - Missense 7:23125066-23125066 + TCGA-DK-A1A5-01 COSM421496 c.412G>A p.E138K Substitution - Missense 7:23140804-23140804 + YUSMI COSM5407240 c.778C>T p.L260F Substitution - Missense 7:23144010-23144010 + YUMOKI COSM3026096 c.1684C>T p.R562C Substitution - Missense 7:23174221-23174221 + 39 COSM4778067 c.841C>A p.P281T Substitution - Missense 7:23152180-23152180 + SNUH_G16_S1 COSM4004432 c.286C>A p.L96M Substitution - Missense 7:23125082-23125082 + HT29 COSM3026045 c.447G>A p.Q149Q Substitution - coding silent 7:23140839-23140839 + TCGA-B0-4852-01 COSM485204 c.754C>G p.L252V Substitution - Missense 7:23143986-23143986 + HCT8 COSM4635499 c.1244G>T p.G415V Substitution - Missense 7:23167968-23167968 + LUAD-S01304 COSM385504 c.358G>C p.D120H Substitution - Missense 7:23125154-23125154 + TCGA-BP-4770-01 COSM485207 c.1135G>A p.E379K Substitution - Missense 7:23167859-23167859 + TCGA-60-2698-01 COSM746416 c.78C>T p.L26L Substitution - coding silent 7:23123800-23123800 + TCGA-G2-A2EK-01 COSM1312970 c.289G>A p.D97N Substitution - Missense 7:23125085-23125085 + TCGA-D9-A1JW-06 COSM3637505 c.598C>T p.R200C Substitution - Missense 7:23143896-23143896 + TCGA-AP-A051-01 COSM1088565 c.444T>C p.G148G Substitution - coding silent 7:23140770-23140770 + TCGA-BR-6452-01 COSM3880246 c.305A>G p.Y102C Substitution - Missense 7:23125101-23125101 + NOKSI COSM4596149 c.1201G>T p.E401* Substitution - Nonsense 7:23167859-23167859 + SNU-175 COSM3026085 c.1394G>A p.G465D Substitution - Missense 7:23173028-23173028 + T2940 COSM4696602 c.1273G>A p.V425M Substitution - Missense 7:23167997-23167997 + MD-054 COSM302506 c.915_916insTTC p.R305_D306insF Insertion - In frame 7:23165742-23165743 + TCGA-A3-3346-01 COSM1496640 c.377-2A>T p.? Unknown 7:23140767-23140767 + TCGA-A8-A08G-01 COSM452863 c.1386T>G p.T462T Substitution - coding silent 7:23172954-23172954 + TCGA-AA-A02W-01 COSM287580 c.118C>T p.Q40* Substitution - Nonsense 7:23106144-23106144 + sysucc-311T COSM5467105 c.443-10C>A p.? Unknown 7:23140759-23140759 + TCGA-EJ-7125-01 COSM3674903 c.880C>A p.R294S Substitution - Missense 7:23152153-23152153 + B101-Tumor COSM1755219 c.1469C>T p.S490L Substitution - Missense 7:23174072-23174072 + CX-1 COSM3026045 c.447G>A p.Q149Q Substitution - coding silent 7:23140839-23140839 + ESO-717 COSM1242443 c.635T>C p.V212A Substitution - Missense 7:23143867-23143867 + sysucc-1317T COSM5450371 c.1470A>G p.S490S Substitution - coding silent 7:23174073-23174073 + B101 COSM1755219 c.1469C>T p.S490L Substitution - Missense 7:23174072-23174072 + TCGA-AA-A00K-01 COSM298465 c.590A>G p.D197G Substitution - Missense 7:23140916-23140916 + Pat_26_A COSM5872481 c.158-1G>C p.? Unknown 7:23124687-23124687 + TCGA-B5-A11N-01 COSM1088571 c.1091C>T p.S364L Substitution - Missense 7:23165852-23165852 + S02322 COSM5691548 c.556G>C p.D186H Substitution - Missense 7:23140882-23140882 + TCGA-A8-A09I-01 COSM452866 c.1667G>A p.G556E Substitution - Missense 7:23174270-23174270 + TCGA-AA-3685-01 COSM5103432 c.1325A>G p.N442S Substitution - Missense 7:23167983-23167983 + C10 COSM1755218 c.1535C>T p.S512L Substitution - Missense 7:23174072-23174072 + HCC075T COSM5822027 c.178T>A p.S60T Substitution - Missense 7:23124708-23124708 + TCGA-A8-A0A6-01 COSM3832525 c.1488T>G p.G496G Substitution - coding silent 7:23174091-23174091 + SCMC_RM2_ COSM4989134 c.53A>G p.K18R Substitution - Missense 7:23117963-23117963 + LS411 COSM3026092 c.1619G>A p.G540D Substitution - Missense 7:23174156-23174156 + TCGA-EE-A3JD-06 COSM3026096 c.1684C>T p.R562C Substitution - Missense 7:23174221-23174221 + ESCC_54 COSM5631579 c.1313+1G>A p.? Unknown 7:23168038-23168038 + TCGA-AP-A051-01 COSM1088566 c.378T>C p.G126G Substitution - coding silent 7:23140770-23140770 + DLD1 COSM4625997 c.670C>T p.P224S Substitution - Missense 7:23143902-23143902 + YUAKER COSM1698412 c.109C>T p.R37C Substitution - Missense 7:23123831-23123831 + TCGA-FS-A1ZC-06 COSM3637499 c.408T>C p.F136F Substitution - coding silent 7:23125138-23125138 + TCGA-AK-3447-01 COSM1496640 c.377-2A>T p.? Unknown 7:23140767-23140767 + 3N47-VS-3T47 COSM4982642 c.1669G>A p.A557T Substitution - Missense 7:23174206-23174206 + TCGA-CG-5723-01 COSM3880242 c.302T>C p.F101S Substitution - Missense 7:23124766-23124766 + TCGA-B5-A11H-01 COSM1088575 c.1650C>T p.T550T Substitution - coding silent 7:23174187-23174187 + 1604875 COSM141195 c.769G>A p.E257K Substitution - Missense 7:23152108-23152108 + DLD1 COSM4625998 c.604C>T p.P202S Substitution - Missense 7:23143902-23143902 + I2L-P7-Tumor-Organoid COSM5358395 c.1214C>T p.T405M Substitution - Missense 7:23167872-23167872 + HT115 COSM3026090 c.1596C>A p.V532V Substitution - coding silent 7:23174133-23174133 + 8013142 COSM1158924 c.711T>C p.L237L Substitution - coding silent 7:23143943-23143943 + TCGA-EE-A2MJ-06 COSM3637507 c.643C>T p.L215F Substitution - Missense 7:23143941-23143941 + TCGA-HU-A4GX-01 COSM3880253 c.833G>C p.G278A Substitution - Missense 7:23152172-23152172 + ESO-601 COSM1256003 c.1258C>T p.R420C Substitution - Missense 7:23167916-23167916 + TCGA-37-5819-01 COSM746406 c.1621G>T p.A541S Substitution - Missense 7:23174224-23174224 + TCGA-ER-A2NG-06 COSM3637503 c.529C>G p.L177V Substitution - Missense 7:23140921-23140921 + T578 COSM4696600 c.1152T>G p.I384M Substitution - Missense 7:23165913-23165913 + ESO-717 COSM1242444 c.569T>C p.V190A Substitution - Missense 7:23143867-23143867 + SW48 COSM3026058 c.994G>A p.V332M Substitution - Missense 7:23165755-23165755 + SW1417 COSM3026101 c.1656C>T p.V552V Substitution - coding silent 7:23174259-23174259 + J13_T COSM3950349 c.266A>T p.D89V Substitution - Missense 7:23124730-23124730 + sysucc-1370T COSM5472395 c.704C>A p.P235H Substitution - Missense 7:23144002-23144002 + YUROG COSM5407243 c.1265C>T p.S422F Substitution - Missense 7:23167989-23167989 + sysucc-880T COSM5463622 c.134A>G p.H45R Substitution - Missense 7:23123856-23123856 + TCGA-06-0126 COSM2149453 c.136G>A p.V46M Substitution - Missense 7:23123792-23123792 + CSCC-62-T COSM4505271 c.622C>T p.L208F Substitution - Missense 7:23143920-23143920 + HCT8 COSM4635498 c.1310G>T p.G437V Substitution - Missense 7:23167968-23167968 + TCGA-AA-A00N-01 COSM275765 c.1086T>G p.I362M Substitution - Missense 7:23165913-23165913 + TCGA-A8-A0A6-01 COSM3832524 c.1554T>G p.G518G Substitution - coding silent 7:23174091-23174091 + BRC47 COSM5026718 c.184C>T p.L62F Substitution - Missense 7:23123840-23123840 + YURUS COSM1698414 c.1477C>T p.P493S Substitution - Missense 7:23174080-23174080 + TCGA-B5-A11H-01 COSM1088576 c.1584C>T p.T528T Substitution - coding silent 7:23174187-23174187 + LS180 COSM3026021 c.69C>T p.D23D Substitution - coding silent 7:23123791-23123791 + TCGA-85-6561-01 COSM746413 c.566G>T p.R189L Substitution - Missense 7:23140892-23140892 + TCGA-EE-A2MJ-06 COSM3637506 c.709C>T p.L237F Substitution - Missense 7:23143941-23143941 + T15 COSM5345321 c.957G>T p.L319F Substitution - Missense 7:23165784-23165784 + TCGA-B0-5098-01 COSM1496636 c.839A>G p.Q280R Substitution - Missense 7:23152178-23152178 + TCGA-EJ-7781-01 COSM1472079 c.1313C>G p.T438R Substitution - Missense 7:23168037-23168037 + LS411 COSM746411 c.993C>T p.C331C Substitution - coding silent 7:23165754-23165754 + sysucc-880T COSM5463621 c.200A>G p.H67R Substitution - Missense 7:23123856-23123856 + TCGA-EE-A2GC-06 COSM3637497 c.257C>T p.S86F Substitution - Missense 7:23125053-23125053 + LC_S19 COSM1187270 c.1163G>T p.W388L Substitution - Missense 7:23167887-23167887 + 06-P2007 COSM4587325 c.924A>C p.A308A Substitution - coding silent 7:23165751-23165751 + T578 COSM275765 c.1086T>G p.I362M Substitution - Missense 7:23165913-23165913 + 2492702 COSM5599794 c.36G>A p.K12K Substitution - coding silent 7:23106062-23106062 + TCGA-37-5819-01 COSM746405 c.1687G>T p.A563S Substitution - Missense 7:23174224-23174224 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.654817 7p15.3 611119 2458432|CGAP|BC039585|C/T|coding|Leu118Leu|586|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D197G c.590A>G 7 23180535 COREAD A G Missense p.D318G c.953A>G 7 23205333 HNSC A G Missense p.E427G c.1280A>G 7 23207557 BRCA A G Missense p.N145S c.434A>G 7 23164783 UCEC A G Missense p.N442S c.1325A>G 7 23207602 COREAD A G Missense p.N580S c.1739A>G 7 23213895 LUAD A G Missense p.T317A c.949A>G 7 23205329 STAD A G Synonymous p.L156L c.468A>G 7 23180413 BRCA C A Missense p.P159H c.476C>A 7 23180421 LUAD C G Missense p.A557G c.1670C>G 7 23213826 OV C G Missense p.I432M c.1296C>G 7 23207573 LUSC C G Missense p.L199V c.595C>G 7 23180540 CM C G Missense p.L252V c.754C>G 7 23183605 RCCC C G Missense p.N112K c.336C>G 7 23164685 PRAD C G Missense p.Q51E c.151C>G 7 23163426 HNSC C G Missense p.T460R c.1379C>G 7 23207656 PRAD C T Missense p.A379V c.1136C>T 7 23205516 LUSC C T Missense p.L237F c.709C>T 7 23183560 CM C T Missense p.L62F c.184C>T 7 23163459 BRCA C T Missense p.P236S c.706C>T 7 23183557 CM C T Missense p.R222C c.664C>T 7 23183515 CM C T Missense p.R420C c.1258C>T 7 23207535 ESCA C T Missense p.R562C c.1684C>T 7 23213840 CM C T Missense p.S108F c.323C>T 7 23164672 CM C T Nonsense p.Q40* c.118C>T 7 23145763 COREAD C T Synonymous p.C331C c.993C>T 7 23205373 LUSC G A Missense p.A163T c.487G>A 7 23180432 LUAD G A Missense p.D119N c.355G>A 7 23164704 BLCA G A Missense p.E160K c.478G>A 7 23180423 BLCA G A Missense p.E401K c.1201G>A 7 23207478 RCCC G A Missense p.G578E c.1733G>A 7 23213889 BRCA G A Missense p.V46M c.136G>A 7 23163411 GBM G C Missense p.C354S c.1061G>C 7 23205441 LUAD G C Missense p.E15D c.45G>C 7 23145690 LUAD G T Missense p.A563S c.1687G>T 7 23213843 LUSC G T Missense p.A57S c.169G>T 7 23163444 LUAD G T Missense p.R189L c.566G>T 7 23180511 LUSC T A Missense p.F136I c.406T>A 7 23164755 CM T C Synonymous p.L237L c.711T>C 7 23183562 PAAD T G Missense p.V50G c.149T>G 7 23163424 BRCA