Annotation Summary for Cell Line: ESS-1  

Cell line primary name: ESS-1
Cell line aliases:
Gender: F
Site Primary: endometrium
Histology: carcinoma
Hist Subtype1: carcinosarcoma-malignant_mesodermal_mixed_tumour
Notes:
Source: DSMZ
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_C07_296050
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_B11_293324
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in ESS-1

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 ESS1_ENDOMETRIU... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCA3 p.N124S 16 2374481 2374481 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T C uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ACACA 17 35766564 35766564 ESS1_ENDOMETRIU... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ACVR1 p.S440G 2 158595029 158595029 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T C uc002tzm.3 ACVR1_uc002tzn.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 ESS1_ENDOMETRIU... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 ESS1_ENDOMETRIU... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AFF3 2 100624051 100624051 ESS1_ENDOMETRIU... 37 Intron SNP C T uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 ESS1_ENDOMETRIU... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.K599T 7 91631027 91631027 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP A C uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 ESS1_ENDOMETRIU... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 ESS1_ENDOMETRIU... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ARHGEF10 8 1874771 1874771 ESS1_ENDOMETRIU... 37 Intron SNP T G uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
ARHGEF10 p.T1054M 8 1882047 1882047 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
ATM p.R2849* 11 108216596 108216596 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP C T uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATM p.E3015D 11 108236109 108236109 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATP11A p.A212T 13 113473681 113473681 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
ATP11A p.R585Q 13 113496638 113496638 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
BCR 22 23631813 23631814 ESS1_ENDOMETRIU... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 ESS1_ENDOMETRIU... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BLM p.E880Q 15 91326134 91326134 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G C uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
BMP4 14 54416602 54416602 ESS1_ENDOMETRIU... 37 3'UTR Del T - rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
C15ORF55 p.E927* 15 34648988 34648988 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP G T uc010ucc.1 C15orf55_uc010u... Hybrid_Cap... view
C17ORF37 17 37885640 37885641 ESS1_ENDOMETRIU... 37 3'UTR Ins - G rs75811535 uc002hsq.2 Hybrid_Cap...
C1ORF86 1 2116329 2116330 ESS1_ENDOMETRIU... 37 3'UTR Ins - C uc001aix.1 PRKCZ_uc001aiq.... Hybrid_Cap...
CACNA1F p.L1943Q X 49061703 49061703 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP A T uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap... view
CACNB2 10 18828721 18828722 ESS1_ENDOMETRIU... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2A p.E139D 5 149633104 149633104 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C A uc003lrt.2 CAMK2A_uc003lru... Hybrid_Cap... view
CASP3 4 185550407 185550407 ESS1_ENDOMETRIU... 37 3'UTR SNP C A uc003iwh.2 CASP3_uc003iwg.... Hybrid_Cap... view
CCDC50 p.E400D 3 191098679 191098679 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc003fsv.2 CCDC50_uc003fsw... Hybrid_Cap... view
CDK11B 1 1654066 1654068 ESS1_ENDOMETRIU... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CEP110 9 123939699 123939699 ESS1_ENDOMETRIU... 37 3'UTR Del T - rs75910820 uc004bkx.1 CEP110_uc004blb... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 ESS1_ENDOMETRIU... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHRNA5 15 78885657 78885657 ESS1_ENDOMETRIU... 37 3'UTR SNP A C uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 ESS1_ENDOMETRIU... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 ESS1_ENDOMETRIU... 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 p.E107* 22 19241682 19241682 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP C A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CNTN1 p.T50I 12 41312495 41312495 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001rmm.1 CNTN1_uc009zjy.... Hybrid_Cap... view
CNTN6 3 1339681 1339686 ESS1_ENDOMETRIU... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CPAMD8 p.V1228L 19 17036012 17036012 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C A uc002nfb.2 Hybrid_Cap... view
CREB3L2 p.A276T 7 137590537 137590537 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 ESS1_ENDOMETRIU... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CREBBP p.S1598G 16 3781875 3781875 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T C uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CSMD3 p.Q3497H 8 113249555 113249555 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T G uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.I96L 8 114326915 114326915 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T A uc003ynu.2 CSMD3_uc003ynt.... Hybrid_Cap... view
CTBP2 p.R72W 10 126716115 126716115 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
DAXX p.R538C 6 33287521 33287521 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc011dre.1 ZBTB22_uc003oeb... Hybrid_Cap... view
DKK1 10 54076813 54076813 ESS1_ENDOMETRIU... 37 3'UTR SNP T G uc001jjr.2 Hybrid_Cap... view
DNAH8 6 38952247 38952250 ESS1_ENDOMETRIU... 37 Intron Del CACA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
DRD2 11 113295496 113295496 ESS1_ENDOMETRIU... 37 5'UTR SNP G T uc001pnz.2 DRD2_uc010rwv.1... Hybrid_Cap... view
DST p.S4739Y 6 56357209 56357209 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56482855 56482855 ESS1_ENDOMETRIU... 37 Intron SNP A G uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 ESS1_ENDOMETRIU... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EP300 p.L1584R 22 41569760 41569760 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T G uc003azl.3 Hybrid_Cap... view
EPHA3 p.E167D 3 89259357 89259357 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc003dqy.2 EPHA3_uc003dqx.... Hybrid_Cap... view
EPHA4 p.K835Q 2 222294865 222294865 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T G uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
EPHA5 p.S858F 4 66213860 66213860 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 ESS1_ENDOMETRIU... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB2 p.R664C 1 23233304 23233304 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc009vqj.1 EPHB2_uc001bge.... Hybrid_Cap... view
ETV1 7 14028708 14028708 ESS1_ENDOMETRIU... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FAM123B p.S895Y X 63410483 63410483 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc004dvo.2 Hybrid_Cap... view
FANCB p.S368L X 14877305 14877305 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc004cwg.1 FANCB_uc004cwh.... Hybrid_Cap... view
FANCC p.E521K 9 97864105 97864105 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc004avh.2 Hybrid_Cap... view
FANCD2 p.F96V 3 10076391 10076391 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T G uc003buw.2 FANCD2_uc003bux... Hybrid_Cap... view
FBXW7 p.E694* 4 153244077 153244077 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP C A uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FBXW7 p.R465C 4 153249385 153249385 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 ESS1_ENDOMETRIU... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR2 10 123276974 123276974 ESS1_ENDOMETRIU... 37 Intron SNP C T uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap... view
FGFR3 4 1809128 1809129 ESS1_ENDOMETRIU... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 ESS1_ENDOMETRIU... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 ESS1_ENDOMETRIU... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GATS 7 99799524 99799524 ESS1_ENDOMETRIU... 37 3'UTR SNP G T uc003uua.3 STAG3_uc003utx.... Hybrid_Cap... view
GCNT2 6 10556545 10556545 ESS1_ENDOMETRIU... 37 Intron SNP G A uc010joo.2 GCNT2_uc010jol.... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 ESS1_ENDOMETRIU... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 ESS1_ENDOMETRIU... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2B p.N951S 12 13717320 13717320 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T C uc001rbt.2 Hybrid_Cap... view
GRK4 p.R307I 4 3021546 3021546 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc003ggn.1 GRK4_uc003ggo.1... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 ESS1_ENDOMETRIU... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HEPH p.D305Y X 65409621 65409621 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc011moz.1 HEPH_uc004dwn.2... Hybrid_Cap... view
HIF1A p.L540R 14 62207302 62207302 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T G uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 ESS1_ENDOMETRIU... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK2 p.V989G 7 139260034 139260034 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP A C uc003vvf.3 HIPK2_uc003vvd.... Hybrid_Cap... view
HIPK3 p.R113Q 11 33308298 33308298 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001mul.1 HIPK3_uc001mum.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 ESS1_ENDOMETRIU... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HNRNPA2B1 p.160_161insF 7 26236457 26236458 ESS1_ENDOMETRIU... 37 In_Frame_Ins Ins - AAA uc003sxr.3 HNRNPA2B1_uc003... Hybrid_Cap...
HSP90AA1 p.E430del 14 102551075 102551077 ESS1_ENDOMETRIU... 37 In_Frame_Del Del CTC - uc001ykv.3 HSP90AA1_uc001y... Hybrid_Cap...
IGF1R p.R1353H 15 99500625 99500625 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002bul.2 IGF1R_uc010bon.... Hybrid_Cap... view
ILK 11 6630029 6630029 ESS1_ENDOMETRIU... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITIH5L p.A521T X 54784946 54784946 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc004dtj.2 Hybrid_Cap... view
KDM6A p.E107K X 44820622 44820622 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc011mkz.1 KDM6A_uc010nhk.... Hybrid_Cap... view
KIAA1409 p.S1750P 14 94097251 94097251 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T C uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
KIAA2022 X 73959169 73959169 ESS1_ENDOMETRIU... 37 3'UTR SNP C A uc004eby.2 Hybrid_Cap... view
KIT 4 55604758 55604758 ESS1_ENDOMETRIU... 37 3'UTR SNP G T uc010igr.2 KIT_uc010igs.2_... Hybrid_Cap... view
KLK7 19 51480672 51480675 ESS1_ENDOMETRIU... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMA1 p.R2592W 18 6959344 6959344 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002knm.2 LAMA1_uc002knk.... Hybrid_Cap... view
LDLR p.G314R 19 11218190 11218190 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A rs72658858 uc002mqk.3 LDLR_uc010xlk.1... Hybrid_Cap... view
LRP1B p.L1576I 2 141607884 141607884 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
LRP2 p.D4509V 2 169993996 169993996 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T A uc002ues.2 Hybrid_Cap... view
LRP2 p.R1882C 2 170076968 170076968 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002ues.2 Hybrid_Cap... view
LRRC2 p.K283N 3 46568996 46568996 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C A uc010hji.2 LRRC2_uc003cpu.... Hybrid_Cap... view
LRRK2 p.E519* 12 40657602 40657602 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP G T uc001rmg.3 LRRK2_uc001rmh.... Hybrid_Cap... view
MAF 16 79628537 79628537 ESS1_ENDOMETRIU... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 ESS1_ENDOMETRIU... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.E722* 5 56176614 56176614 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP G T uc003jqw.3 Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 ESS1_ENDOMETRIU... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP4K1 p.E207K 19 39103297 39103297 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002oix.1 MAP4K1_uc002oiy... Hybrid_Cap... view
MAPK6 p.H333N 15 52353627 52353627 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C A uc002abp.2 Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 ESS1_ENDOMETRIU... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MARK1 p.K289N 1 220792055 220792055 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc009xdw.2 MARK1_uc001hmn.... Hybrid_Cap... view
MASTL p.T357M 10 27458958 27458958 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001itm.2 MASTL_uc001itl.... Hybrid_Cap... view
MCF2 p.G557V X 138689898 138689898 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C A uc011mwo.1 MCF2_uc004fau.2... Hybrid_Cap... view
MLL3 p.E937D 7 151927365 151927365 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T G uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MMP1 11 102660962 102660962 ESS1_ENDOMETRIU... 37 3'UTR SNP T G uc001phi.2 MMP1_uc010ruv.1... Hybrid_Cap... view
MSMB p.I67M 10 51556842 51556842 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T G uc001jiq.2 PARG_uc001jih.2... Hybrid_Cap... view
MTCP1NB X 154289982 154289982 ESS1_ENDOMETRIU... 37 3'UTR SNP T C uc004fmy.2 Hybrid_Cap... view
MUSK p.K65T 9 113445068 113445068 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP A C uc004bey.2 MUSK_uc004bex.2... Hybrid_Cap... view
MYT1 p.R703H 20 62851202 62851202 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002yii.2 MYT1_uc002yih.2... Hybrid_Cap... view
NACA p.A486V 12 57113857 57113857 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NAV3 p.S661* 12 78415601 78415601 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP C A uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 ESS1_ENDOMETRIU... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 ESS1_ENDOMETRIU... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 113075025 113075025 ESS1_ENDOMETRIU... 37 5'UTR SNP G T uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap... view
NCAM1 p.R358W 11 113102999 113102999 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc009yyq.1 Hybrid_Cap... view
NCAM1 p.E409D 11 113103517 113103517 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP A C uc009yyq.1 Hybrid_Cap... view
NEK1 p.R91Q 4 170520291 170520291 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003isd.1 NEK1_uc003isb.1... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 ESS1_ENDOMETRIU... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK8 p.R383H 17 27065189 27065189 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002hcp.2 Hybrid_Cap... view
NF1 p.R1066_splice 17 29557945 29557946 ESS1_ENDOMETRIU... 37 Splice_Site_Ins Ins - A uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap...
NFATC1 18 77287653 77287654 ESS1_ENDOMETRIU... 37 3'UTR Del AA - uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap...
NFKB2 p.A750V 10 104161231 104161231 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T rs41293042 uc001kvb.2 NFKB2_uc001kva.... Hybrid_Cap... view
NIPBL p.E1185* 5 37000969 37000969 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP G T uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NIPBL p.R2112I 5 37044823 37044823 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NLRP3 p.A873T 1 247599390 247599390 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NOTCH4 6 32184707 32184707 ESS1_ENDOMETRIU... 37 Intron SNP G A uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap... view
NOTCH4 p.S335Y 6 32188337 32188337 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap... view
NPM1 5 170837734 170837734 ESS1_ENDOMETRIU... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 ESS1_ENDOMETRIU... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 ESS1_ENDOMETRIU... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 ESS1_ENDOMETRIU... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP153 p.Q360E 6 17665607 17665607 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G C uc011dje.1 NUP153_uc003ncd... Hybrid_Cap... view
OBSCN p.R882H 1 228404981 228404981 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
ODZ1 p.E1106K X 123637539 123637539 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
PAX3 2 223158653 223158653 ESS1_ENDOMETRIU... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCDH15 p.R728I 10 55826569 55826569 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C A uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PDCD11 p.E968D 10 105184881 105184881 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc001kwy.1 Hybrid_Cap... view
PDE4DIP p.V486fs 1 144917828 144917828 ESS1_ENDOMETRIU... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP 1 144930649 144930649 ESS1_ENDOMETRIU... 37 Intron SNP C T uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA p.T266P 4 54265987 54265987 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP A C uc003haa.2 FIP1L1_uc003gzx... Hybrid_Cap... view
PGR 11 100933598 100933599 ESS1_ENDOMETRIU... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PHIP p.I1654S 6 79650915 79650915 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP A C uc003pir.2 PHIP_uc003piq.2... Hybrid_Cap... view
PIK3C2G p.E23* 12 18435082 18435082 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP G T uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap... view
PIK3C2G 12 18800990 18800990 ESS1_ENDOMETRIU... 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CA p.E545K 3 178936091 178936091 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A rs104886003 uc003fjk.2 Hybrid_Cap... view
PKN2 p.I495M 1 89270588 89270588 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T G uc001dmn.2 PKN2_uc001dmm.1... Hybrid_Cap... view
PLAT p.D406N 8 42037766 42037766 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003xos.2 PLAT_uc010lxf.1... Hybrid_Cap... view
PPARGC1A 4 23891671 23891671 ESS1_ENDOMETRIU... 37 5'UTR SNP G T uc003gqs.2 PPARGC1A_uc003g... Hybrid_Cap... view
PRCC p.I260M 1 156756663 156756663 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C G uc001fqa.2 PRCC_uc001fqb.2... Hybrid_Cap... view
PRKACB p.F52L 1 84610200 84610200 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C A uc001djl.2 PRKACB_uc001djj... Hybrid_Cap... view
PRKCA 17 64298959 64298960 ESS1_ENDOMETRIU... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKCI p.R480C 3 170013719 170013719 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003fgs.2 PRKCI_uc003fgt.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 ESS1_ENDOMETRIU... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTEN p.R142W 10 89692940 89692940 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001kfb.2 Hybrid_Cap... view
PTK2 p.S38L 8 141900790 141900790 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003yvt.2 PTK2_uc003yvs.2... Hybrid_Cap... view
PTPRC p.P726S 1 198703459 198703459 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap... view
PTPRC p.L1183I 1 198723441 198723441 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C A uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap... view
PTTG1 p.I5S 5 159849333 159849333 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T G uc003lyj.2 PTTG1_uc003lyk.... Hybrid_Cap... view
RAPGEF2 4 160189200 160189201 ESS1_ENDOMETRIU... 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RAPGEF2 4 160189224 160189224 ESS1_ENDOMETRIU... 37 5'UTR SNP A T uc003iqg.3 Hybrid_Cap... view
RARA p.R276W 17 38510572 38510572 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002huk.1 RARA_uc002hul.3... Hybrid_Cap... view
RASA1 p.R398Q 5 86645121 86645121 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003kiw.2 RASA1_uc010jav.... Hybrid_Cap... view
RASA1 p.F644S 5 86670134 86670134 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T C uc003kiw.2 RASA1_uc010jav.... Hybrid_Cap... view
RB1 p.E54* 13 48881438 48881438 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP G T uc001vcb.2 RB1_uc010acs.1_... Hybrid_Cap... view
RB1 p.E322K 13 48941654 48941654 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001vcb.2 RB1_uc010act.1_... Hybrid_Cap... view
RB1 p.D566_splice 13 49027128 49027128 ESS1_ENDOMETRIU... 37 Splice_Site_SNP SNP G T uc001vcb.2 Hybrid_Cap... view
RBL2 p.Y1076* 16 53515726 53515726 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP C A uc002ehi.3 RBL2_uc002ehj.2... Hybrid_Cap... view
RBM15 p.E965D 1 110888192 110888192 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc001dzl.1 RBM15_uc001dzm.... Hybrid_Cap... view
RCBTB2 p.R425S 13 49073883 49073883 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc010tgg.1 RCBTB2_uc001vch... Hybrid_Cap... view
RGL3 19 11527163 11527163 ESS1_ENDOMETRIU... 37 Intron SNP A G uc002mro.2 RGL3_uc002mrn.2... Hybrid_Cap... view
ROBO2 p.R1139* 3 77666773 77666773 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP C T uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
ROBO2 3 77695297 77695297 ESS1_ENDOMETRIU... 37 3'UTR SNP T G uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
ROCK1 p.E915* 18 18550386 18550386 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP C A uc002kte.2 Hybrid_Cap... view
RPS6KA3 p.E339* X 20194455 20194455 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP C A uc004czu.2 RPS6KA3_uc011mj... Hybrid_Cap... view
RPTOR p.S359L 17 78796963 78796963 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002jyt.1 RPTOR_uc002jys.... Hybrid_Cap... view
SACS p.S4115Y 13 23905671 23905671 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SACS p.E1898* 13 23912323 23912323 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP C A uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SEMA3B 3 50310649 50310649 ESS1_ENDOMETRIU... 37 Intron SNP G A uc003cyu.2 SEMA3B_uc010hlh... Hybrid_Cap... view
SEPT9 17 75494787 75494788 ESS1_ENDOMETRIU... 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
SMG1 p.Q3203R 16 18839486 18839486 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP T C uc002dfm.2 SMG1_uc010bwb.2... Hybrid_Cap... view
SMG1 p.E3129* 16 18840826 18840826 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP C A uc002dfm.2 SMG1_uc010bwb.2... Hybrid_Cap... view
SNX19 p.R362* 11 130784751 130784751 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP G A uc001qgk.3 SNX19_uc010sce.... Hybrid_Cap... view
SP140 2 231177530 231177530 ESS1_ENDOMETRIU... 37 3'UTR SNP C A uc002vql.2 SP140_uc010zma.... Hybrid_Cap... view
STAT5A p.K644N 17 40460221 40460221 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP A C uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap... view
STK31 7 23872024 23872025 ESS1_ENDOMETRIU... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAF1 p.K168N X 70595108 70595108 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc004dzt.3 BCYRN1_uc011mpt... Hybrid_Cap... view
TAF1 p.R864Q X 70608190 70608190 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc004dzt.3 BCYRN1_uc011mpt... Hybrid_Cap... view
TAOK3 12 118693380 118693380 ESS1_ENDOMETRIU... 37 5'UTR SNP A C uc001twx.2 TAOK3_uc001twy.... Hybrid_Cap... view
TBX18 p.K294N 6 85457695 85457695 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C A uc003pkl.1 TBX18_uc010kbq.... Hybrid_Cap... view
TCF12 p.R326T 15 57526247 57526247 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G C uc002aea.2 TCF12_uc010ugm.... Hybrid_Cap... view
TESK2 p.R78Q 1 45887508 45887508 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001cns.1 TESK2_uc009vxr.... Hybrid_Cap... view
TFDP1 13 114288493 114288493 ESS1_ENDOMETRIU... 37 Intron SNP C T uc001vtw.2 TFDP1_uc010tkd.... Hybrid_Cap... view
TIAM1 p.R1448W 21 32493120 32493120 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002yow.1 TIAM1_uc011adk.... Hybrid_Cap... view
TIE1 1 43779725 43779726 ESS1_ENDOMETRIU... 37 Intron Del TG - uc001ciu.2 TIE1_uc010oke.1... Hybrid_Cap...
TLK1 p.F548L 2 171863327 171863327 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap... view
TLN1 p.R741* 9 35717380 35717380 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP G A uc003zxt.2 Hybrid_Cap... view
TLR7 X 12885598 12885598 ESS1_ENDOMETRIU... 37 Splice_Site_SNP SNP A T uc004cvc.2 Hybrid_Cap... view
TMEM123 11 102269398 102269398 ESS1_ENDOMETRIU... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TOX p.S210I 8 59764147 59764147 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C A uc003xtw.1 Hybrid_Cap... view
TP53 p.R213* 17 7578212 7578212 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TPR p.R1749C 1 186302464 186302464 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001grv.2 Hybrid_Cap... view
TPR 1 186344212 186344212 ESS1_ENDOMETRIU... 37 5'UTR SNP G T uc001grv.2 C1orf27_uc001gr... Hybrid_Cap... view
TRIM37 p.R446Q 17 57126732 57126732 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002iwy.3 TRIM37_uc002iwz... Hybrid_Cap... view
TRIO 5 14399200 14399200 ESS1_ENDOMETRIU... 37 Intron SNP T G uc003jff.2 TRIO_uc003jfg.2... Hybrid_Cap... view
TRPS1 8 116635872 116635873 ESS1_ENDOMETRIU... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTBK1 p.E771del 6 43250726 43250728 ESS1_ENDOMETRIU... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTBK2 p.S1181L 15 43038186 43038186 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001zqo.2 TTBK2_uc010bcy.... Hybrid_Cap... view
TTN 2 179391639 179391640 ESS1_ENDOMETRIU... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.G24241S 2 179430434 179430434 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.V15665A 2 179468716 179468716 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.S13053Y 2 179483415 179483415 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.A7487D 2 179579721 179579721 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179605130 179605130 ESS1_ENDOMETRIU... 37 Intron SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TWF1 12 44189328 44189328 ESS1_ENDOMETRIU... 37 3'UTR SNP C A uc001rob.2 TWF1_uc001rnz.2... Hybrid_Cap... view
UBR5 8 103266403 103266403 ESS1_ENDOMETRIU... 37 3'UTR SNP T G uc003ykr.1 UBR5_uc003yks.1... Hybrid_Cap... view
URB2 p.W408* 1 229771584 229771584 ESS1_ENDOMETRIU... 37 Nonsense_Mutation SNP G A uc001hts.1 URB2_uc009xfd.1... Hybrid_Cap... view
URB2 p.A438T 1 229771672 229771672 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001hts.1 URB2_uc009xfd.1... Hybrid_Cap... view
USP6 p.L1364I 17 5076142 5076142 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C A uc002gau.1 USP6_uc002gav.1... Hybrid_Cap... view
VAV1 p.R195S 19 6822454 6822454 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP C A uc002mfu.1 VAV1_uc010xjh.1... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 ESS1_ENDOMETRIU... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WHSC1 p.R1227Q 4 1978260 1978260 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003gdz.3 WHSC1_uc003geb.... Hybrid_Cap... view
WNK3 p.R1281W X 54265343 54265343 ESS1_ENDOMETRIU... 37 Missense_Mutation SNP G A uc004dtc.1 WNK3_uc004dtd.1... Hybrid_Cap... view