Annotation Summary for Cell Line: ES-2  

Cell line primary name: ES-2
Cell line aliases:
Gender: F
Site Primary: ovary
Histology: carcinoma
Hist Subtype1: clear_cell_carcinoma
Notes:
Source: ATCC
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_G02_296136
SNP arrays: FASTS_p_NCLE_DNAAffy4_S_GenomeWideSNP_6_B12_335234
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in ES-2

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AAK1 p.541_542QQ>Q 2 69741754 69741756 ES2_OVARY 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 ES2_OVARY 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 ES2_OVARY 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS20 p.P1775S 12 43769305 43769305 ES2_OVARY 37 Missense_Mutation SNP G A uc010skx.1 Hybrid_Cap... view
ADCK5 p.D233H 8 145616573 145616573 ES2_OVARY 37 Missense_Mutation SNP G C uc003zch.2 ADCK5_uc003zcg.... Hybrid_Cap... view
AIFM3 22 21322181 21322181 ES2_OVARY 37 5'UTR SNP G A uc002ztj.2 AIFM3_uc002ztk.... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 ES2_OVARY 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 ES2_OVARY 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AR p.E707K X 66931477 66931477 ES2_OVARY 37 Missense_Mutation SNP G A uc004dwu.1 AR_uc004dwv.1_M... Hybrid_Cap... view
ASTN1 p.P470H 1 176992569 176992569 ES2_OVARY 37 Missense_Mutation SNP G T uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
ATRX p.P995L X 76937764 76937764 ES2_OVARY 37 Missense_Mutation SNP G A uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap... view
AURKC 19 57742494 57742507 ES2_OVARY 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BRAF p.V600E 7 140453136 140453136 ES2_OVARY 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
C15ORF2 p.G726E 15 24923191 24923191 ES2_OVARY 37 Missense_Mutation SNP G A uc001ywo.2 Hybrid_Cap... view
C15ORF55 p.A492G 15 34647334 34647334 ES2_OVARY 37 Missense_Mutation SNP C G uc010ucc.1 C15orf55_uc010u... Hybrid_Cap... view
C6ORF97 p.D554H 6 151917662 151917662 ES2_OVARY 37 Missense_Mutation SNP G C uc003qol.2 Hybrid_Cap... view
CABC1 1 227171585 227171585 ES2_OVARY 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828721 18828722 ES2_OVARY 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2A 5 149602125 149602125 ES2_OVARY 37 3'UTR Del T - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CDK11B p.K127_splice 1 1647893 1647894 ES2_OVARY 37 Splice_Site_Ins Ins - TTTCTT rs114930018 uc001agv.1 CDK11B_uc001ags... Hybrid_Cap...
CDK18 1 205495890 205495891 ES2_OVARY 37 Intron Del CT - uc001hcr.2 CDK18_uc010pri.... Hybrid_Cap...
CDK4 p.K22Q 12 58145437 58145437 ES2_OVARY 37 Missense_Mutation SNP T G uc001spv.2 CDK4_uc010ssb.1... Hybrid_Cap... view
CIT p.V903_splice 12 120190054 120190055 ES2_OVARY 37 Splice_Site_Ins Ins - GA uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 ES2_OVARY 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 p.V718L 3 1418745 1418745 ES2_OVARY 37 Missense_Mutation SNP G C uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap... view
CREBBP 16 3777693 3777694 ES2_OVARY 37 3'UTR Ins - G rs75832607 uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap...
CSNK1G3 p.D427Y 5 122940514 122940514 ES2_OVARY 37 Missense_Mutation SNP G T uc003ktl.2 CSNK1G3_uc003kt... Hybrid_Cap... view
CTBP1 4 1235128 1235128 ES2_OVARY 37 Intron SNP A C uc003gcv.1 CTBP1_uc003gct.... Hybrid_Cap... view
CTBP2 p.S760F 10 126683159 126683159 ES2_OVARY 37 Missense_Mutation SNP G A uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CXCR2 2 219000637 219000637 ES2_OVARY 37 3'UTR SNP G A uc002vgz.1 CXCR2_uc002vha.... Hybrid_Cap... view
DDX10 p.R133C 11 108547830 108547830 ES2_OVARY 37 Missense_Mutation SNP C T uc001pkm.2 DDX10_uc001pkl.... Hybrid_Cap... view
DNAH8 p.V3020A 6 38877490 38877490 ES2_OVARY 37 Missense_Mutation SNP T C uc003ooe.1 Hybrid_Cap... view
DNAH8 p.E3483K 6 38893966 38893966 ES2_OVARY 37 Missense_Mutation SNP G A uc003ooe.1 Hybrid_Cap... view
DYRK1A 21 38884966 38884967 ES2_OVARY 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EDN1 6 12290729 12290729 ES2_OVARY 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EPHA6 3 97367230 97367231 ES2_OVARY 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 ES2_OVARY 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCA p.G1390fs 16 89805381 89805381 ES2_OVARY 37 Frame_Shift_Del Del C - uc002fou.1 ZNF276_uc010ciq... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 ES2_OVARY 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 p.V790M 4 1808930 1808930 ES2_OVARY 37 Missense_Mutation SNP G A uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap... view
FGFR3 4 1809128 1809129 ES2_OVARY 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FGFR4 p.I339V 5 176519743 176519743 ES2_OVARY 37 Missense_Mutation SNP A G uc003mfl.2 FGFR4_uc003mfm.... Hybrid_Cap... view
FLI1 11 128638217 128638217 ES2_OVARY 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 ES2_OVARY 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 ES2_OVARY 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GRIA3 X 122318386 122318387 ES2_OVARY 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 ES2_OVARY 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC6 p.H113D X 48663870 48663870 ES2_OVARY 37 Missense_Mutation SNP C G uc011mmi.1 HDAC6_uc004dkr.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 ES2_OVARY 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK3 p.T1126I 11 33374843 33374843 ES2_OVARY 37 Missense_Mutation SNP C T uc001mul.1 HIPK3_uc001mum.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 ES2_OVARY 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSF1 p.G495E 8 145537887 145537887 ES2_OVARY 37 Missense_Mutation SNP G A uc003zbt.3 HSF1_uc003zbu.3... Hybrid_Cap... view
IDH1 p.F32V 2 209116182 209116182 ES2_OVARY 37 Missense_Mutation SNP A C uc002vcs.2 IDH1_uc002vct.2... Hybrid_Cap... view
ILK 11 6630029 6630029 ES2_OVARY 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB1 10 33197131 33197134 ES2_OVARY 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 ES2_OVARY 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KCNH2 p.D466N 7 150649674 150649674 ES2_OVARY 37 Missense_Mutation SNP C T uc003wic.2 KCNH2_uc003wib.... Hybrid_Cap... view
KLK7 19 51480672 51480675 ES2_OVARY 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LOC100130776 12 58121938 58121938 ES2_OVARY 37 3'UTR SNP C T uc001sps.3 AGAP2_uc001spo.... Hybrid_Cap... view
LRP6 p.E663K 12 12317272 12317272 ES2_OVARY 37 Missense_Mutation SNP C T uc001rah.3 BCL2L14_uc001ra... Hybrid_Cap... view
MAF 16 79628537 79628537 ES2_OVARY 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 ES2_OVARY 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 p.D67N 15 66727483 66727483 ES2_OVARY 37 Missense_Mutation SNP G A uc010bhq.2 MAP2K1_uc010ujp... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 ES2_OVARY 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP4K3 p.A469E 2 39515330 39515330 ES2_OVARY 37 Missense_Mutation SNP G T uc002rro.2 MAP4K3_uc002rrp... Hybrid_Cap... view
MAP4K4 p.E903K 2 102486824 102486824 ES2_OVARY 37 Missense_Mutation SNP G A uc002tbc.2 MAP4K4_uc002tbd... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 ES2_OVARY 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MLLT3 9 20346377 20346378 ES2_OVARY 37 3'UTR Ins - A rs66943046 uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MMP1 p.A258G 11 102666191 102666191 ES2_OVARY 37 Missense_Mutation SNP G C uc001phi.2 MMP1_uc010ruv.1... Hybrid_Cap... view
MPL 1 43815045 43815045 ES2_OVARY 37 Intron SNP A G uc001ciw.2 MPL_uc001civ.2_... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 ES2_OVARY 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYLK p.E1066del 3 123419117 123419119 ES2_OVARY 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYST3 8 41906581 41906581 ES2_OVARY 37 5'UTR SNP G A uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 ES2_OVARY 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 ES2_OVARY 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 ES2_OVARY 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NCOA3 20 46282339 46282340 ES2_OVARY 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 ES2_OVARY 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK6 p.I330M 9 127113172 127113172 ES2_OVARY 37 Missense_Mutation SNP C G uc004boh.2 NEK6_uc004bof.2... Hybrid_Cap... view
NFIA 1 61921185 61921186 ES2_OVARY 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NOVA1 p.G104R 14 26949320 26949320 ES2_OVARY 37 Missense_Mutation SNP C T uc001wpy.2 NOVA1_uc001wpz.... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 ES2_OVARY 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 9 134067556 134067557 ES2_OVARY 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
ODZ1 p.G380E X 123805562 123805562 ES2_OVARY 37 Missense_Mutation SNP C T uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
P4HB p.V204F 17 79813032 79813032 ES2_OVARY 37 Missense_Mutation SNP C A uc002kbn.1 P4HB_uc002kbm.1... Hybrid_Cap... view
PAX3 2 223158653 223158653 ES2_OVARY 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PHKG2 p.R135W 16 30764725 30764725 ES2_OVARY 37 Missense_Mutation SNP C T uc002dzi.1 PHKG2_uc002dzj.... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 ES2_OVARY 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G p.N466_splice 12 18496260 18496260 ES2_OVARY 37 Splice_Site_SNP SNP G A uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap... view
PKHD1 p.P1428S 6 51890326 51890326 ES2_OVARY 37 Missense_Mutation SNP G A uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PKHD1 p.D659N 6 51918039 51918039 ES2_OVARY 37 Missense_Mutation SNP C T uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PML 15 74328206 74328206 ES2_OVARY 37 Intron SNP G A rs743582 uc002awv.2 PML_uc002awm.2_... Hybrid_Cap... view
PRKCG p.P325H 19 54401247 54401247 ES2_OVARY 37 Missense_Mutation SNP C A uc010yeg.1 PRKCG_uc010yef.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 ES2_OVARY 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAPGEF2 4 160189224 160189224 ES2_OVARY 37 5'UTR SNP A T uc003iqg.3 Hybrid_Cap... view
RASGRF2 p.R437K 5 80382692 80382692 ES2_OVARY 37 Missense_Mutation SNP G A uc003kha.1 RASGRF2_uc011ct... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 ES2_OVARY 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RICTOR 5 38971909 38971909 ES2_OVARY 37 Intron SNP T C uc003jlo.2 RICTOR_uc003jlp... Hybrid_Cap... view
ROR2 p.T190A 9 94499727 94499727 ES2_OVARY 37 Missense_Mutation SNP T C rs34574788 uc004arj.1 ROR2_uc004ari.1... Hybrid_Cap... view
SEPT6 p.D117N X 118797527 118797527 ES2_OVARY 37 Missense_Mutation SNP C T uc011mtw.1 SEPT6_uc010nqk.... Hybrid_Cap... view
SEPT9 17 75494787 75494788 ES2_OVARY 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
SLC6A8 X 152957656 152957657 ES2_OVARY 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
SPEN p.L1865R 1 16258329 16258329 ES2_OVARY 37 Missense_Mutation SNP T G uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
SRPK2 p.T437P 7 104782689 104782689 ES2_OVARY 37 Missense_Mutation SNP T G rs55743527 uc003vcv.2 SRPK2_uc003vct.... Hybrid_Cap... view
SS18 p.P252L 18 23619273 23619273 ES2_OVARY 37 Missense_Mutation SNP G A uc002kvm.2 SS18_uc002kvn.2... Hybrid_Cap... view
STK31 7 23872024 23872025 ES2_OVARY 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STYK1 p.T224R 12 10780286 10780286 ES2_OVARY 37 Missense_Mutation SNP G C uc001qys.2 Hybrid_Cap... view
TEC 4 48139307 48139310 ES2_OVARY 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TEK p.D982N 9 27213548 27213548 ES2_OVARY 37 Missense_Mutation SNP G A uc003zqi.3 TEK_uc011lno.1_... Hybrid_Cap... view
TEX14 p.E627K 17 56676845 56676845 ES2_OVARY 37 Missense_Mutation SNP C T uc010dcz.1 TEX14_uc002iwr.... Hybrid_Cap... view
TGFB2 1 218519928 218519929 ES2_OVARY 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TLX3 p.L243M 5 170738454 170738454 ES2_OVARY 37 Missense_Mutation SNP C A uc003mbf.2 Hybrid_Cap... view
TMEM123 11 102269398 102269398 ES2_OVARY 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 ES2_OVARY 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.S241F 17 7577559 7577559 ES2_OVARY 37 Missense_Mutation SNP G A rs28934573 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRRAP p.E3335K 7 98591358 98591358 ES2_OVARY 37 Missense_Mutation SNP G A uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 ES2_OVARY 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN p.P19595S 2 179446508 179446508 ES2_OVARY 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E8513K 2 179571332 179571332 ES2_OVARY 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.D5005N 2 179594138 179594138 ES2_OVARY 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E1569A 2 179641984 179641984 ES2_OVARY 37 Missense_Mutation SNP T G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TYRO3 15 41853706 41853706 ES2_OVARY 37 Intron SNP C T uc001zof.1 TYRO3_uc001zoe.... Hybrid_Cap... view
UNC13C p.T1586I 15 54685289 54685289 ES2_OVARY 37 Missense_Mutation SNP C T uc002ack.2 UNC13C_uc002acl... Hybrid_Cap... view
VEGFA p.S342F 6 43748531 43748531 ES2_OVARY 37 Missense_Mutation SNP C T uc003owh.2 VEGFA_uc003owd.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 ES2_OVARY 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...