Annotation Summary for Cell Line: RL95-2  

Cell line primary name: RL95-2
Cell line aliases:
Gender: F
Site Primary: endometrium
Histology: carcinoma
Hist Subtype1: mixed_adenosquamous_carcinoma
Notes:
Source: ATCC
Expression arrays: BRAKE_p_NCLE_RNA2_HG-U133_Plus_2_D11_241134
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_F11_256142
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in RL95-2

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 RL952_ENDOMETRI... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
AATK p.P1158L 17 79094263 79094263 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc010dia.2 AATK_uc010dhz.2... Hybrid_Cap... view
AATK p.S252N 17 79100227 79100227 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc010dia.2 MIR657_hsa-mir-... Hybrid_Cap... view
ABCA3 p.R1271W 16 2334331 2334331 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ABCC4 p.W1025L 13 95724052 95724052 RL952_ENDOMETRI... 37 Missense_Mutation SNP C A uc001vmd.3 ABCC4_uc010afk.... Hybrid_Cap... view
ABI1 10 27037488 27037488 RL952_ENDOMETRI... 37 3'UTR Del A - rs75446996 uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ABL2 1 179086420 179086420 RL952_ENDOMETRI... 37 Intron Del A - uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ACACB p.R2240* 12 109700205 109700205 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP C T uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ACVR1C 2 158390344 158390344 RL952_ENDOMETRI... 37 3'UTR Del A - uc002tzk.3 ACVR1C_uc002tzl... Hybrid_Cap...
ACVR1C p.R193K 2 158406871 158406871 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc002tzk.3 ACVR1C_uc002tzl... Hybrid_Cap... view
ACVR2A p.K435fs 2 148683686 148683686 RL952_ENDOMETRI... 37 Frame_Shift_Del Del A - uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap...
ACVR2B p.P165fs 3 38519754 38519754 RL952_ENDOMETRI... 37 Frame_Shift_Del Del C - uc003cif.2 ACVR2B_uc003cig... Hybrid_Cap...
ACVRL1 p.D171N 12 52307540 52307540 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc001rzj.2 ACVRL1_uc001rzk... Hybrid_Cap... view
ADAM17 2 9630245 9630245 RL952_ENDOMETRI... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 RL952_ENDOMETRI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS20 p.L16P 12 43945678 43945678 RL952_ENDOMETRI... 37 Missense_Mutation SNP A G uc010skx.1 Hybrid_Cap... view
ADRBK1 p.R40H 11 67044748 67044748 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc009yrn.1 ADRBK1_uc009yrm... Hybrid_Cap... view
AFF3 p.A1134G 2 100171154 100171154 RL952_ENDOMETRI... 37 Missense_Mutation SNP G C uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 RL952_ENDOMETRI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AMHR2 p.L156F 12 53818990 53818990 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc001scx.1 AMHR2_uc009zmy.... Hybrid_Cap... view
AMZ2 17 66246315 66246316 RL952_ENDOMETRI... 37 Intron Ins - T uc002jgs.1 AMZ2_uc002jgr.1... Hybrid_Cap...
ANAPC5 p.Y614H 12 121756133 121756133 RL952_ENDOMETRI... 37 Missense_Mutation SNP A G uc001uag.2 ANAPC5_uc010szu... Hybrid_Cap... view
ARHGEF10 8 1851729 1851729 RL952_ENDOMETRI... 37 Intron SNP G A uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
ARHGEF7 p.E200K 13 111870092 111870092 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap... view
ARID1A p.L649fs 1 27087373 27087373 RL952_ENDOMETRI... 37 Frame_Shift_Del Del C - uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap...
ARID1A p.R693* 1 27087503 27087503 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP C T uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
ASPH p.E580G 8 62460655 62460655 RL952_ENDOMETRI... 37 Missense_Mutation SNP T C uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
ATM p.R1771fs 11 108172510 108172510 RL952_ENDOMETRI... 37 Frame_Shift_Del Del A - uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap...
ATP11A p.G757S 13 113510250 113510250 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
BAI1 p.G1122S 8 143607954 143607954 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc003ywm.2 Hybrid_Cap... view
BAI3 p.V119I 6 69348922 69348922 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAX p.M38fs 19 49458971 49458971 RL952_ENDOMETRI... 37 Frame_Shift_Del Del G - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BCKDK p.R240H 16 31122414 31122414 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc002eaw.3 BCKDK_uc002eav.... Hybrid_Cap... view
BCL11A p.L265fs 2 60689254 60689254 RL952_ENDOMETRI... 37 Frame_Shift_Del Del G - uc002sae.1 BCL11A_uc002sab... Hybrid_Cap...
BCL11B p.W876R 14 99640547 99640547 RL952_ENDOMETRI... 37 Missense_Mutation SNP A G uc001yga.2 BCL11B_uc001ygb... Hybrid_Cap... view
BCL11B p.V444M 14 99641843 99641843 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc001yga.2 BCL11B_uc001ygb... Hybrid_Cap... view
BIRC6 p.P4709L 2 32832577 32832577 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc010ezu.2 Hybrid_Cap... view
BMPR2 p.E581fs 2 203420130 203420130 RL952_ENDOMETRI... 37 Frame_Shift_Del Del A - uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap...
BRAF p.P403fs 7 140482927 140482927 RL952_ENDOMETRI... 37 Frame_Shift_Del Del G - uc003vwc.3 Hybrid_Cap...
BRCA2 p.T1426fs 13 32912770 32912771 RL952_ENDOMETRI... 37 Frame_Shift_Ins Ins - T uc001uub.1 Hybrid_Cap...
BRCA2 p.C1820fs 13 32913952 32913953 RL952_ENDOMETRI... 37 Frame_Shift_Ins Ins - A uc001uub.1 Hybrid_Cap...
BRCA2 p.K2551E 13 32931912 32931912 RL952_ENDOMETRI... 37 Missense_Mutation SNP A G uc001uub.1 Hybrid_Cap... view
BRD2 6 32948599 32948599 RL952_ENDOMETRI... 37 3'UTR Del C - uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
BRD3 p.R284H 9 136913440 136913440 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc004cew.2 BRD3_uc004cex.2... Hybrid_Cap... view
BRD3 p.P24fs 9 136918529 136918529 RL952_ENDOMETRI... 37 Frame_Shift_Del Del G - uc004cew.2 BRD3_uc004cex.2... Hybrid_Cap...
BRSK2 11 1482033 1482033 RL952_ENDOMETRI... 37 3'UTR SNP C T uc001ltm.2 BRSK2_uc001lti.... Hybrid_Cap... view
BTG1 12 92537706 92537707 RL952_ENDOMETRI... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
BTK p.M523I X 100611139 100611139 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc010nno.2 BTK_uc004ehf.2_... Hybrid_Cap... view
C15ORF2 p.N104fs 15 24921326 24921326 RL952_ENDOMETRI... 37 Frame_Shift_Del Del C - uc001ywo.2 Hybrid_Cap...
C9ORF96 p.W341C 9 136263124 136263124 RL952_ENDOMETRI... 37 Missense_Mutation SNP G T uc004cdk.2 C9orf96_uc004cd... Hybrid_Cap... view
CABC1 p.N290fs 1 227170395 227170395 RL952_ENDOMETRI... 37 Frame_Shift_Del Del C - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828721 18828722 RL952_ENDOMETRI... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD10 p.A117T 22 37914002 37914002 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003asx.1 CARD10_uc003ast... Hybrid_Cap... view
CARD9 9 139262079 139262079 RL952_ENDOMETRI... 37 Intron SNP C A uc004chg.3 CARD9_uc011mdw.... Hybrid_Cap... view
CASP8 p.F414fs 2 202149799 202149799 RL952_ENDOMETRI... 37 Frame_Shift_Del Del T - uc002uxt.1 CASP8_uc002uxp.... Hybrid_Cap...
CBL p.V784M 11 119169166 119169166 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc001pwe.2 Hybrid_Cap... view
CCDC6 p.S464L 10 61552709 61552709 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc001jks.3 Hybrid_Cap... view
CD40LG X 135741640 135741641 RL952_ENDOMETRI... 37 3'UTR Ins - A uc004faa.2 CD40LG_uc010nsd... Hybrid_Cap...
CDK18 p.P70L 1 205492689 205492689 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc001hcr.2 CDK18_uc009xbk.... Hybrid_Cap... view
CDKL5 p.V26A X 18528952 18528952 RL952_ENDOMETRI... 37 Missense_Mutation SNP T C uc004cym.2 CDKL5_uc004cyn.... Hybrid_Cap... view
CDKN1B p.H23fs 12 12870842 12870842 RL952_ENDOMETRI... 37 Frame_Shift_Del Del C - uc001rat.2 Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 RL952_ENDOMETRI... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD8 p.N2092fs 14 21859176 21859176 RL952_ENDOMETRI... 37 Frame_Shift_Del Del T - uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CHD9 p.R2103H 16 53338226 53338226 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHD9 p.R568K 16 53243644 53243644 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHIC2 4 54876130 54876132 RL952_ENDOMETRI... 37 3'UTR Del AAC - rs71700240;rs68107873;rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CHL1 p.Y824_splice 3 431158 431158 RL952_ENDOMETRI... 37 Splice_Site_SNP SNP G A uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CIC p.L571I 19 42794631 42794631 RL952_ENDOMETRI... 37 Missense_Mutation SNP C A uc002otf.1 Hybrid_Cap... view
CIT p.K1728N 12 120146011 120146011 RL952_ENDOMETRI... 37 Missense_Mutation SNP C A uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 RL952_ENDOMETRI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL14A1 p.Y1262H 8 121293258 121293258 RL952_ENDOMETRI... 37 Missense_Mutation SNP T C uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL1A1 p.P1180fs 17 48264275 48264275 RL952_ENDOMETRI... 37 Frame_Shift_Del Del G - uc002iqm.2 Hybrid_Cap...
COL1A1 p.R1093H 17 48265328 48265328 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc002iqm.2 Hybrid_Cap... view
CPAMD8 p.A145T 19 17122543 17122543 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc002nfb.2 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 RL952_ENDOMETRI... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSF1R 5 149433400 149433401 RL952_ENDOMETRI... 37 3'UTR Ins - C rs66970099;rs78449650 uc003lrl.2 CSF1R_uc011dcd.... Hybrid_Cap...
CSF3R p.Q110* 1 36941011 36941011 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP G A uc001cax.1 CSF3R_uc001cav.... Hybrid_Cap... view
CTBP2 p.Q707* 10 126686599 126686599 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP G A uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CTDSPL p.A128V 3 38009330 38009330 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003chg.2 CTDSPL_uc003chh... Hybrid_Cap... view
CTLA4 p.F175fs 2 204736166 204736166 RL952_ENDOMETRI... 37 Frame_Shift_Del Del T - uc002vak.1 CTLA4_uc002val.... Hybrid_Cap...
CTNNA2 p.K680E 2 80816459 80816459 RL952_ENDOMETRI... 37 Missense_Mutation SNP A G uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CXCR4 2 136872393 136872393 RL952_ENDOMETRI... 37 3'UTR Del A - uc002tuy.2 CXCR4_uc010fnk.... Hybrid_Cap...
CYP1B1 p.T234M 2 38301831 38301831 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc002rqo.2 Hybrid_Cap... view
CYP2B6 p.R120H 19 41510226 41510226 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc002opr.1 CYP2A7_uc002opo... Hybrid_Cap... view
CYP2B6 p.R378Q 19 41518371 41518371 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc002opr.1 CYP2A7_uc002opo... Hybrid_Cap... view
DDX1 p.Q529* 2 15763697 15763697 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP C T uc002rce.2 DDX1_uc010yjq.1... Hybrid_Cap... view
DDX10 p.D788del 11 108788635 108788637 RL952_ENDOMETRI... 37 In_Frame_Del Del TGA - uc001pkm.2 DDX10_uc001pkl.... Hybrid_Cap...
DFFB p.C34Y 1 3774268 3774268 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc010nzn.1 DFFB_uc001alc.2... Hybrid_Cap... view
DFFB 1 3800379 3800379 RL952_ENDOMETRI... 37 3'UTR SNP T C uc010nzn.1 DFFB_uc001alc.2... Hybrid_Cap... view
DLC1 p.R1086H 8 12952665 12952665 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
DMPK p.A80_splice 19 46283129 46283130 RL952_ENDOMETRI... 37 Splice_Site_Ins Ins - G rs72098650 uc002pdi.1 DMPK_uc010xxs.1... Hybrid_Cap...
DNAH8 p.A221V 6 38718271 38718271 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003ooe.1 Hybrid_Cap... view
DOCK3 p.W96C 3 50971481 50971481 RL952_ENDOMETRI... 37 Missense_Mutation SNP G T uc011bds.1 Hybrid_Cap... view
DOCK3 p.N1900D 3 51418595 51418595 RL952_ENDOMETRI... 37 Missense_Mutation SNP A G uc011bds.1 Hybrid_Cap... view
DPYD p.T934K 1 97547992 97547992 RL952_ENDOMETRI... 37 Missense_Mutation SNP G T uc001drv.2 Hybrid_Cap... view
DST p.T4566fs 6 56362694 56362695 RL952_ENDOMETRI... 37 Frame_Shift_Ins Ins - T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap...
DVL1 p.Q327H 1 1275121 1275121 RL952_ENDOMETRI... 37 Missense_Mutation SNP C A uc001aer.3 DVL1_uc002quu.2... Hybrid_Cap... view
DYRK1B p.R202C 19 40319140 40319140 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc002omj.2 DYRK1B_uc002omi... Hybrid_Cap... view
EEF1D 8 144661940 144661940 RL952_ENDOMETRI... 37 3'UTR SNP C T uc003yyq.1 NAPRT1_uc003yym... Hybrid_Cap... view
EIF4G1 3 184033908 184033909 RL952_ENDOMETRI... 37 Intron Ins - C uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap...
EIF4G1 p.G253G 3 184039110 184039110 RL952_ENDOMETRI... 37 Silent SNP G A uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap... view
ELAVL1 p.A77fs 19 8046013 8046014 RL952_ENDOMETRI... 37 Frame_Shift_Ins Ins - CT uc002mjb.2 Hybrid_Cap...
ELK1 X 47500596 47500596 RL952_ENDOMETRI... 37 Intron Del G - uc004dik.3 ELK1_uc010nhv.2... Hybrid_Cap...
EP300 p.A469T 22 41527514 41527514 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc003azl.3 Hybrid_Cap... view
EP300 p.R2308H 22 41574638 41574638 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc003azl.3 Hybrid_Cap... view
EP300 p.Q2321fs 22 41574678 41574679 RL952_ENDOMETRI... 37 Frame_Shift_Ins Ins - C uc003azl.3 Hybrid_Cap...
EPHA10 p.L747P 1 38186195 38186195 RL952_ENDOMETRI... 37 Missense_Mutation SNP A G uc009vvi.2 EPHA10_uc001cbt... Hybrid_Cap... view
EPHA2 p.R950W 1 16451793 16451793 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc001aya.1 Hybrid_Cap... view
EPHA6 3 97367230 97367231 RL952_ENDOMETRI... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERBB3 p.L503L 12 56487576 56487576 RL952_ENDOMETRI... 37 Silent SNP G A uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ERBB4 p.D960Y 2 212286818 212286818 RL952_ENDOMETRI... 37 Missense_Mutation SNP C A uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ERC1 p.E256K 12 1192426 1192426 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 RL952_ENDOMETRI... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
EXT2 p.G718R 11 44265733 44265733 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc001mya.2 EXT2_uc010rfo.1... Hybrid_Cap... view
F8 p.N1460fs X 154157686 154157686 RL952_ENDOMETRI... 37 Frame_Shift_Del Del T - uc004fmt.2 Hybrid_Cap...
FAM123B p.M806T X 63410750 63410750 RL952_ENDOMETRI... 37 Missense_Mutation SNP A G uc004dvo.2 Hybrid_Cap... view
FANCF p.N154D 11 22646897 22646897 RL952_ENDOMETRI... 37 Missense_Mutation SNP T C uc001mql.1 Hybrid_Cap... view
FANCM p.Q1333fs 14 45645955 45645955 RL952_ENDOMETRI... 37 Frame_Shift_Del Del A - uc001wwd.3 FANCM_uc010anf.... Hybrid_Cap...
FASN p.L1353fs 17 80043423 80043423 RL952_ENDOMETRI... 37 Frame_Shift_Del Del G - uc002kdu.2 FASN_uc002kdw.1... Hybrid_Cap...
FASN p.L1474F 17 80042819 80042819 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc002kdu.2 FASN_uc002kdv.1... Hybrid_Cap... view
FBN2 p.I495T 5 127727830 127727830 RL952_ENDOMETRI... 37 Missense_Mutation SNP A G uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FER p.E163E 5 108203475 108203475 RL952_ENDOMETRI... 37 Silent SNP A G uc003kop.1 FER_uc011cve.1_... Hybrid_Cap... view
FGFR3 4 1809128 1809129 RL952_ENDOMETRI... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 RL952_ENDOMETRI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA p.V552I X 153593541 153593541 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc004fkk.2 FLNA_uc010nuu.1... Hybrid_Cap... view
FLNB p.R818* 3 58095865 58095865 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP C T rs80356519 uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FLNC p.R183C 7 128475574 128475574 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FN1 2 216244182 216244185 RL952_ENDOMETRI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FNBP1 9 132658079 132658080 RL952_ENDOMETRI... 37 Intron Del TT - uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap...
GLI1 p.W272fs 12 57860075 57860075 RL952_ENDOMETRI... 37 Frame_Shift_Del Del G - uc001snx.2 GLI1_uc009zpq.2... Hybrid_Cap...
GLI2 p.A43T 2 121555023 121555023 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc010flp.2 GLI2_uc010yyu.1... Hybrid_Cap... view
GLTSCR1 p.P935fs 19 48197891 48197891 RL952_ENDOMETRI... 37 Frame_Shift_Del Del C - uc002phh.3 GLTSCR1_uc002ph... Hybrid_Cap...
GMPS p.E197fs 3 155628544 155628544 RL952_ENDOMETRI... 37 Frame_Shift_Del Del A - uc003faq.2 GMPS_uc011bom.1... Hybrid_Cap...
GNAS p.D574N 20 57430040 57430040 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc002xzw.2 GNAS_uc002xzt.2... Hybrid_Cap... view
GRAMD1B p.R381Q 11 123479403 123479403 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc001pyw.2 GRAMD1B_uc001py... Hybrid_Cap... view
GRIA3 X 122318386 122318387 RL952_ENDOMETRI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIA3 p.L819P X 122616666 122616666 RL952_ENDOMETRI... 37 Missense_Mutation SNP T C uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap... view
GTSE1 p.A552V 22 46722482 46722482 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc011aqy.1 GTSE1_uc011aqz.... Hybrid_Cap... view
GUCY2C p.K511_splice 12 14805884 14805884 RL952_ENDOMETRI... 37 Splice_Site_SNP SNP A G uc001rcd.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 RL952_ENDOMETRI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HAPLN1 5 82937252 82937252 RL952_ENDOMETRI... 37 3'UTR Del A - uc003kim.2 HAPLN1_uc003kin... Hybrid_Cap...
HAPLN1 p.W14L 5 82969302 82969302 RL952_ENDOMETRI... 37 Missense_Mutation SNP C A uc003kim.2 HAPLN1_uc003kin... Hybrid_Cap... view
HCK p.V184M 20 30671714 30671714 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc002wxh.2 HCK_uc010gdy.2_... Hybrid_Cap... view
HDAC2 p.K105fs 6 114292040 114292040 RL952_ENDOMETRI... 37 Frame_Shift_Del Del T - uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap...
HDLBP p.Q1126* 2 242170272 242170272 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP G A uc002waz.2 HDLBP_uc002wba.... Hybrid_Cap... view
HEPH p.G204W X 65393619 65393619 RL952_ENDOMETRI... 37 Missense_Mutation SNP G T uc011moz.1 HEPH_uc004dwn.2... Hybrid_Cap... view
HERC2 p.K1535R 15 28478363 28478363 RL952_ENDOMETRI... 37 Missense_Mutation SNP T C uc001zbj.2 Hybrid_Cap... view
HGF 7 81331896 81331896 RL952_ENDOMETRI... 37 3'UTR SNP G A uc003uhl.2 HGF_uc003uhm.2_... Hybrid_Cap... view
HIF1A 14 62213929 62213930 RL952_ENDOMETRI... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HMMR p.K665fs 5 162917426 162917426 RL952_ENDOMETRI... 37 Frame_Shift_Del Del A - uc003lzh.2 HMMR_uc003lzf.2... Hybrid_Cap...
HNF1A 12 121434630 121434631 RL952_ENDOMETRI... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HNRNPA2B1 7 26240410 26240410 RL952_ENDOMETRI... 37 5'UTR SNP C T uc003sxr.3 HNRNPA2B1_uc003... Hybrid_Cap... view
HRAS p.Q61H 11 533873 533873 RL952_ENDOMETRI... 37 Missense_Mutation SNP C A uc001lpv.2 HRAS_uc010qvw.1... Hybrid_Cap... view
IDH2 p.D446H 15 90627521 90627521 RL952_ENDOMETRI... 37 Missense_Mutation SNP C G uc002box.2 IDH2_uc010uqb.1... Hybrid_Cap... view
IGF1R 15 99192755 99192765 RL952_ENDOMETRI... 37 5'UTR Del TTTTT... - uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap...
ILK 11 6630029 6630029 RL952_ENDOMETRI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INHBA 7 41729112 41729112 RL952_ENDOMETRI... 37 3'UTR Del T - uc003thq.2 INHBA_uc003thr.... Hybrid_Cap...
INSR p.K903N 19 7132302 7132302 RL952_ENDOMETRI... 37 Missense_Mutation SNP C A uc002mgd.1 INSR_uc002mge.1... Hybrid_Cap... view
IRS1 p.G597fs 2 227661663 227661664 RL952_ENDOMETRI... 37 Frame_Shift_Ins Ins - C uc002voh.3 Hybrid_Cap...
ITGA7 12 56093762 56093762 RL952_ENDOMETRI... 37 Intron SNP C T rs75215275 uc001shh.2 ITGA7_uc001shg.... Hybrid_Cap... view
ITGAV p.K399fs 2 187511448 187511448 RL952_ENDOMETRI... 37 Frame_Shift_Del Del A - uc002upq.2 ITGAV_uc010frs.... Hybrid_Cap...
ITGB4 p.S696N 17 73733499 73733499 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap... view
ITGB4 p.A1129fs 17 73746261 73746261 RL952_ENDOMETRI... 37 Frame_Shift_Del Del C - uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap...
ITPR1 p.G112R 3 4681122 4681122 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc003bqa.2 ITPR1_uc010hbz.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 RL952_ENDOMETRI... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAG2 p.V605M 14 105615367 105615367 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc001yqg.2 JAG2_uc010axf.2... Hybrid_Cap... view
JAK1 p.K924fs 1 65305357 65305357 RL952_ENDOMETRI... 37 Frame_Shift_Del Del T - uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap...
JAK1 p.K860fs 1 65306997 65306997 RL952_ENDOMETRI... 37 Frame_Shift_Del Del T - uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap...
JAK2 p.F85S 9 5029810 5029810 RL952_ENDOMETRI... 37 Missense_Mutation SNP T C uc010mhm.2 JAK2_uc003ziw.2... Hybrid_Cap... view
JUN 1 59247598 59247598 RL952_ENDOMETRI... 37 3'UTR SNP C T uc001cze.2 Hybrid_Cap... view
KALRN p.T2118I 3 124385306 124385306 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003ehg.2 KALRN_uc003ehi.... Hybrid_Cap... view
KDR p.D710A 4 55968534 55968534 RL952_ENDOMETRI... 37 Missense_Mutation SNP T G uc003has.2 KDR_uc003hat.1_... Hybrid_Cap... view
KIAA2022 p.Q574H X 73962670 73962670 RL952_ENDOMETRI... 37 Missense_Mutation SNP C A uc004eby.2 Hybrid_Cap... view
KLK7 19 51480672 51480675 RL952_ENDOMETRI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KSR2 p.R368C 12 118020147 118020147 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc001two.2 Hybrid_Cap... view
LAMA1 p.R2446M 18 6964661 6964661 RL952_ENDOMETRI... 37 Missense_Mutation SNP C A uc002knm.2 LAMA1_uc002knl.... Hybrid_Cap... view
LATS2 13 21620223 21620224 RL952_ENDOMETRI... 37 5'UTR Del AA - rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LCK p.S337fs 1 32745227 32745227 RL952_ENDOMETRI... 37 Frame_Shift_Del Del C - uc001buz.2 LCK_uc001bux.2_... Hybrid_Cap...
LDLR 19 11242028 11242028 RL952_ENDOMETRI... 37 3'UTR SNP T G uc002mqk.3 LDLR_uc010xlk.1... Hybrid_Cap... view
LGR5 p.W558C 12 71977464 71977464 RL952_ENDOMETRI... 37 Missense_Mutation SNP G T uc001swl.2 LGR5_uc001swm.2... Hybrid_Cap... view
LIF p.S173L 22 30639731 30639731 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc003agz.2 LIF_uc011aks.1_... Hybrid_Cap... view
LMO2 p.G101S 11 33886311 33886311 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc010rem.1 LMO2_uc001mvc.2... Hybrid_Cap... view
LPP 3 188592354 188592354 RL952_ENDOMETRI... 37 3'UTR SNP G A uc003frs.1 LPP_uc011bsg.1_... Hybrid_Cap... view
LRP1 p.P4190fs 12 57603940 57603940 RL952_ENDOMETRI... 37 Frame_Shift_Del Del C - uc001snd.2 Hybrid_Cap...
LRP2 p.S1707fs 2 170088332 170088332 RL952_ENDOMETRI... 37 Frame_Shift_Del Del A - uc002ues.2 Hybrid_Cap...
LRP2 p.G1586D 2 170092513 170092513 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc002ues.2 Hybrid_Cap... view
LRP2 p.S1069T 2 170101428 170101428 RL952_ENDOMETRI... 37 Missense_Mutation SNP A T uc002ues.2 LRP2_uc010zdf.1... Hybrid_Cap... view
LRRK1 p.R631W 15 101562626 101562626 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
LTK 15 41796107 41796107 RL952_ENDOMETRI... 37 3'UTR SNP G A uc001zoa.3 LTK_uc001zob.3_... Hybrid_Cap... view
MAF 16 79628537 79628538 RL952_ENDOMETRI... 37 Intron Del TT - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 RL952_ENDOMETRI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K5 p.S139S 15 67879237 67879237 RL952_ENDOMETRI... 37 Silent SNP A G uc002aqu.2 MAP2K5_uc002aqt... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 RL952_ENDOMETRI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K12 p.R725Q 12 53876413 53876413 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc001sdn.1 MAP3K12_uc001sd... Hybrid_Cap... view
MAP3K4 p.N564N 6 161470996 161470996 RL952_ENDOMETRI... 37 Silent SNP C T uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap... view
MAP3K5 6 136878752 136878753 RL952_ENDOMETRI... 37 3'UTR Del TT - rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MAP3K6 p.K1125del 1 27683230 27683232 RL952_ENDOMETRI... 37 In_Frame_Del Del CTT - uc001bny.1 MAP3K6_uc009vsw... Hybrid_Cap...
MAP3K6 p.T182K 1 27690845 27690845 RL952_ENDOMETRI... 37 Missense_Mutation SNP G T uc001bny.1 MAP3K6_uc009vsw... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 RL952_ENDOMETRI... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 p.D120D 15 42104187 42104187 RL952_ENDOMETRI... 37 Silent SNP C T uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap... view
MCM3AP p.P1648H 21 47664816 47664816 RL952_ENDOMETRI... 37 Missense_Mutation SNP G T uc002zir.1 MCM3APAS_uc002z... Hybrid_Cap... view
MEF2A p.QQ428del 15 100252710 100252715 RL952_ENDOMETRI... 37 In_Frame_Del Del CAGCA... - uc010urw.1 MEF2A_uc010urv.... Hybrid_Cap...
MGA p.R984H 15 42003414 42003414 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc010ucy.1 MGA_uc001zog.1_... Hybrid_Cap... view
MGA p.Q1967* 15 42041704 42041704 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP C T uc010ucy.1 MGA_uc010ucz.1_... Hybrid_Cap... view
MINK1 p.P571Q 17 4794391 4794391 RL952_ENDOMETRI... 37 Missense_Mutation SNP C A uc010vsl.1 MINK1_uc010vsk.... Hybrid_Cap... view
MKRN3 p.A159fs 15 23811405 23811405 RL952_ENDOMETRI... 37 Frame_Shift_Del Del C - uc001ywh.3 MKRN3_uc001ywi.... Hybrid_Cap...
MLL3 p.R2610* 7 151874710 151874710 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP G A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLLT4 p.E1749A 6 168366705 168366705 RL952_ENDOMETRI... 37 Missense_Mutation SNP A C uc003qwd.2 Hybrid_Cap... view
MN1 p.G840R 22 28194014 28194014 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003adj.2 Hybrid_Cap... view
MPL p.R537Q 1 43817931 43817931 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A rs3820551 uc001ciw.2 MPL_uc009vwr.2_... Hybrid_Cap... view
MSH2 p.Q215* 2 47637509 47637509 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP C T uc002rvz.2 MSH2_uc010yoh.1... Hybrid_Cap... view
MSH2 p.R524P 2 47693857 47693857 RL952_ENDOMETRI... 37 Missense_Mutation SNP G C rs63751207 uc002rvz.2 MSH2_uc010yoh.1... Hybrid_Cap... view
MSH3 p.K381fs 5 79970915 79970915 RL952_ENDOMETRI... 37 Frame_Shift_Del Del A - uc003kgz.2 Hybrid_Cap...
MSH5 p.V791_splice 6 31729888 31729888 RL952_ENDOMETRI... 37 Splice_Site_SNP SNP G T uc003nwt.1 MSH5_uc003nwu.1... Hybrid_Cap... view
MSH6 p.T1085fs 2 48030639 48030640 RL952_ENDOMETRI... 37 Frame_Shift_Ins Ins - C rs63750431 uc002rwd.3 MSH6_uc010fbj.2... Hybrid_Cap...
MST1R p.P181Q 3 49940501 49940501 RL952_ENDOMETRI... 37 Missense_Mutation SNP G T uc003cxy.3 MST1R_uc011bdd.... Hybrid_Cap... view
MYC p.S201P 8 128751064 128751064 RL952_ENDOMETRI... 37 Missense_Mutation SNP T C uc003ysi.2 Hybrid_Cap... view
MYH11 16 15797783 15797787 RL952_ENDOMETRI... 37 3'UTR Del TTTTT - uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap...
MYLK4 p.T200M 6 2683343 2683343 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc003mty.3 Hybrid_Cap... view
MYO3B 2 171376171 171376172 RL952_ENDOMETRI... 37 Intron Del GA - uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap...
MYST4 p.S189G 10 76603180 76603180 RL952_ENDOMETRI... 37 Missense_Mutation SNP A G uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap... view
NACA p.S1650C 12 57110365 57110365 RL952_ENDOMETRI... 37 Missense_Mutation SNP G C uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 RL952_ENDOMETRI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 RL952_ENDOMETRI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAPD3 p.V335A 11 134076506 134076506 RL952_ENDOMETRI... 37 Missense_Mutation SNP A G uc001qhd.1 NCAPD3_uc010scm... Hybrid_Cap... view
NCKIPSD p.R321W 3 48718851 48718851 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc003cun.2 NCKIPSD_uc003cu... Hybrid_Cap... view
NCOA3 20 46282356 46282356 RL952_ENDOMETRI... 37 3'UTR SNP C T uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 RL952_ENDOMETRI... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK9 14 75572824 75572824 RL952_ENDOMETRI... 37 Intron SNP C T uc001xrl.2 NEK9_uc001xrk.2... Hybrid_Cap... view
NF2 p.P170fs 22 30050708 30050708 RL952_ENDOMETRI... 37 Frame_Shift_Del Del A - uc003age.3 NF2_uc003afy.3_... Hybrid_Cap...
NFATC1 18 77287653 77287654 RL952_ENDOMETRI... 37 3'UTR Del AA - uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap...
NFATC1 p.A98V 18 77170568 77170568 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc010xfg.1 NFATC1_uc002lnc... Hybrid_Cap... view
NIN p.Q1054* 14 51224588 51224588 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP G A uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NIPBL 5 37051862 37051862 RL952_ENDOMETRI... 37 Intron Del T - uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap...
NOS3 p.R438fs 7 150698398 150698398 RL952_ENDOMETRI... 37 Frame_Shift_Del Del G - uc003wif.2 NOS3_uc011kuy.1... Hybrid_Cap...
NOS3 p.R1108W 7 150710878 150710878 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003wif.2 NOS3_uc011kuy.1... Hybrid_Cap... view
NOTCH1 p.D657Y 9 139409787 139409787 RL952_ENDOMETRI... 37 Missense_Mutation SNP C A uc004chz.2 NOTCH1_uc004cia... Hybrid_Cap... view
NOTCH2 p.S1500R 1 120467939 120467939 RL952_ENDOMETRI... 37 Missense_Mutation SNP G T uc001eik.2 Hybrid_Cap... view
NPM1 5 170837734 170837734 RL952_ENDOMETRI... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 p.S889L 1 153661765 153661765 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap... view
NPRL2 p.Y230C 3 50385989 50385989 RL952_ENDOMETRI... 37 Missense_Mutation SNP T C uc003daj.1 ZMYND10_uc003da... Hybrid_Cap... view
NPRL2 3 50387851 50387851 RL952_ENDOMETRI... 37 Intron SNP C T uc003daj.1 NPRL2_uc003dai.... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 RL952_ENDOMETRI... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H3 p.Q165E 11 47282920 47282920 RL952_ENDOMETRI... 37 Missense_Mutation SNP C G uc001nel.2 NR1H3_uc009yll.... Hybrid_Cap... view
NRBP1 p.A337V 2 27662739 27662739 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc002rko.2 NRBP1_uc002rkq.... Hybrid_Cap... view
NRBP1 p.V425fs 2 27663753 27663754 RL952_ENDOMETRI... 37 Frame_Shift_Ins Ins - C uc002rko.2 NRBP1_uc002rkq.... Hybrid_Cap...
NTRK1 p.G620fs 1 156848967 156848968 RL952_ENDOMETRI... 37 Frame_Shift_Ins Ins - C rs80356676;rs6338 uc001fqh.1 NTRK1_uc001fqf.... Hybrid_Cap...
OBSCN p.R945C 1 228412339 228412339 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN p.S3231I 1 228475542 228475542 RL952_ENDOMETRI... 37 Missense_Mutation SNP G T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN p.E3235K 1 228475553 228475553 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN p.T3292M 1 228475825 228475825 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN p.S5573fs 1 228525002 228525002 RL952_ENDOMETRI... 37 Frame_Shift_Del Del C - rs75013508 uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap...
ODZ1 p.R395W X 123787619 123787619 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
OMD 9 95179845 95179845 RL952_ENDOMETRI... 37 5'UTR Del T - uc004asd.3 CENPP_uc004arz.... Hybrid_Cap...
P4HB p.T85T 17 79817154 79817154 RL952_ENDOMETRI... 37 Silent SNP C T uc002kbn.1 P4HB_uc002kbm.1... Hybrid_Cap... view
PAK4 p.K31R 19 39660285 39660285 RL952_ENDOMETRI... 37 Missense_Mutation SNP A G uc002okj.1 PAK4_uc002okl.1... Hybrid_Cap... view
PAK6 p.L342F 15 40564590 40564590 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc010bbl.2 PAK6_uc010bbm.2... Hybrid_Cap... view
PAPPA p.S305fs 9 118949931 118949932 RL952_ENDOMETRI... 37 Frame_Shift_Ins Ins - C uc004bjn.2 PAPPA_uc011lxp.... Hybrid_Cap...
PAX3 2 223158653 223158653 RL952_ENDOMETRI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 p.S133N 9 37015006 37015006 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap... view
PCM1 p.S157F 8 17796376 17796376 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap... view
PDCD11 p.F8fs 10 105158207 105158207 RL952_ENDOMETRI... 37 Frame_Shift_Del Del C - uc001kwy.1 USMG5_uc001kww.... Hybrid_Cap...
PDE4DIP 1 144931686 144931686 RL952_ENDOMETRI... 37 Intron SNP C T uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA 4 55131002 55131004 RL952_ENDOMETRI... 37 Intron Del AAA - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PDIK1L 1 26449233 26449233 RL952_ENDOMETRI... 37 3'UTR SNP C T uc010oew.1 PDIK1L_uc001blj... Hybrid_Cap... view
PDK2 p.M288_splice 17 48185975 48185975 RL952_ENDOMETRI... 37 Splice_Site_SNP SNP G A uc002iqc.2 PDK2_uc002iqb.2... Hybrid_Cap... view
PHF3 p.R202Q 6 64394228 64394228 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc003pep.1 PHF3_uc010kaf.1... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 RL952_ENDOMETRI... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G p.K1051_splice 12 18656353 18656353 RL952_ENDOMETRI... 37 Splice_Site_SNP SNP T C uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap... view
PIK3R1 5 67584513 67584514 RL952_ENDOMETRI... 37 Intron Del TT - uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap...
PIK3R1 p.R386G 5 67589168 67589168 RL952_ENDOMETRI... 37 Missense_Mutation SNP C G uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap... view
PIK3R1 p.R639* 5 67592099 67592099 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP C T uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap... view
PIK3R4 p.R453H 3 130452484 130452484 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003enj.2 Hybrid_Cap... view
PINK1 p.R492* 1 20975710 20975710 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP C T rs34208370 uc001bdm.2 PINK1_uc001bdn.... Hybrid_Cap... view
PIP4K2A p.K368fs 10 22828937 22828937 RL952_ENDOMETRI... 37 Frame_Shift_Del Del T - uc001irl.3 PIP4K2A_uc010qc... Hybrid_Cap...
PLCB2 p.L339I 15 40590564 40590564 RL952_ENDOMETRI... 37 Missense_Mutation SNP G T uc001zld.2 PLCB2_uc010bbo.... Hybrid_Cap... view
PLCG1 20 39803206 39803206 RL952_ENDOMETRI... 37 3'UTR SNP G A uc002xjo.1 PLCG1_uc002xjp.... Hybrid_Cap... view
PLCG2 16 81819521 81819521 RL952_ENDOMETRI... 37 Intron SNP G A uc002fgt.2 PLCG2_uc010chg.... Hybrid_Cap... view
PMS1 2 190670540 190670540 RL952_ENDOMETRI... 37 Intron Del A - uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PORCN p.L202M X 48371025 48371025 RL952_ENDOMETRI... 37 Missense_Mutation SNP C A uc010nie.1 PORCN_uc004djr.... Hybrid_Cap... view
POU5F1B p.P14fs 8 128428152 128428153 RL952_ENDOMETRI... 37 Frame_Shift_Ins Ins - A uc003ysf.2 LOC727677_uc003... Hybrid_Cap...
PPAPDC1B 8 38121946 38121946 RL952_ENDOMETRI... 37 3'UTR SNP C T uc003xlf.3 PPAPDC1B_uc003x... Hybrid_Cap... view
PRKACG p.V124M 9 71628639 71628639 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc004agy.2 Hybrid_Cap... view
PRKCE 2 46412096 46412096 RL952_ENDOMETRI... 37 3'UTR SNP C T uc002rut.2 Hybrid_Cap... view
PRKCG p.A378T 19 54401733 54401733 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc010yeg.1 PRKCG_uc010yef.... Hybrid_Cap... view
PRKD3 2 37480319 37480320 RL952_ENDOMETRI... 37 Stop_Codon_Ins Ins - T rs79875666 uc002rqd.2 Hybrid_Cap...
PRKDC p.R1816C 8 48777242 48777242 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 RL952_ENDOMETRI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTEN p.M134I 10 89692918 89692918 RL952_ENDOMETRI... 37 Missense_Mutation SNP G T uc001kfb.2 Hybrid_Cap... view
PTEN p.R173H 10 89711900 89711900 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc001kfb.2 Hybrid_Cap... view
PTEN 10 89725294 89725294 RL952_ENDOMETRI... 37 3'UTR Del T - rs1044487 uc001kfb.2 Hybrid_Cap...
PTGS2 p.S23S 1 186648554 186648554 RL952_ENDOMETRI... 37 Silent SNP G A uc001gsb.2 PTGS2_uc009wyo.... Hybrid_Cap... view
PTPN22 p.P695S 1 114372622 114372622 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc001eds.2 PTPN22_uc009wgq... Hybrid_Cap... view
PTPRT p.A723T 20 40911138 40911138 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc010ggj.2 PTPRT_uc002xkg.... Hybrid_Cap... view
PXK p.R349* 3 58383392 58383392 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP C T uc003djz.1 PXK_uc003djx.1_... Hybrid_Cap... view
RABEP1 17 5241534 5241534 RL952_ENDOMETRI... 37 Intron SNP G T uc002gbm.3 RABEP1_uc010clc... Hybrid_Cap... view
RAC1 p.A59T 7 6431622 6431622 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc003spw.2 RAC1_uc003spx.2... Hybrid_Cap... view
RAD21 p.P487H 8 117864197 117864197 RL952_ENDOMETRI... 37 Missense_Mutation SNP G T uc003yod.2 Hybrid_Cap... view
RAD50 p.L719fs 5 131931452 131931452 RL952_ENDOMETRI... 37 Frame_Shift_Del Del A - uc003kxi.2 RAD50_uc003kxh.... Hybrid_Cap...
RAF1 p.R73* 3 12653552 12653552 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP G A uc003bxf.3 RAF1_uc011aut.1... Hybrid_Cap... view
RAPGEF2 4 160189201 160189201 RL952_ENDOMETRI... 37 5'UTR Del T - uc003iqg.3 Hybrid_Cap...
RAPGEF2 4 160279458 160279458 RL952_ENDOMETRI... 37 3'UTR SNP C A uc003iqg.3 Hybrid_Cap... view
RBL1 p.K717E 20 35663666 35663666 RL952_ENDOMETRI... 37 Missense_Mutation SNP T C uc002xgi.2 RBL1_uc010zvt.1... Hybrid_Cap... view
RGL2 p.G634R 6 33260900 33260900 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003odv.2 RGL2_uc003odu.2... Hybrid_Cap... view
RIMS2 8 104831719 104831719 RL952_ENDOMETRI... 37 5'UTR Del A - uc003ylw.2 RIMS2_uc003ylp.... Hybrid_Cap...
ROBO1 p.V1109M 3 78684971 78684971 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
ROBO2 p.P1080fs 3 77657038 77657038 RL952_ENDOMETRI... 37 Frame_Shift_Del Del C - uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
ROBO2 p.R1351L 3 77684117 77684117 RL952_ENDOMETRI... 37 Missense_Mutation SNP G T uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
ROCK2 p.A1013T 2 11338679 11338679 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc002rbd.1 Hybrid_Cap... view
ROCK2 p.M822fs 2 11347937 11347937 RL952_ENDOMETRI... 37 Frame_Shift_Del Del T - uc002rbd.1 Hybrid_Cap...
ROR2 p.G689D 9 94486710 94486710 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc004arj.1 ROR2_uc004ari.1... Hybrid_Cap... view
RPL22 p.K15fs 1 6257785 6257786 RL952_ENDOMETRI... 37 Frame_Shift_Del Del TT - uc001amd.2 RPL22_uc001ame.... Hybrid_Cap...
RPS6KA3 p.L468del X 20187558 20187560 RL952_ENDOMETRI... 37 In_Frame_Del Del GAA - uc004czu.2 RPS6KA3_uc011mj... Hybrid_Cap...
RPS6KA4 p.R496H 11 64136976 64136976 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc001oae.2 RPS6KA4_uc001oa... Hybrid_Cap... view
RPS6KB1 p.V108A 17 57992006 57992006 RL952_ENDOMETRI... 37 Missense_Mutation SNP T C uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap... view
RPTOR p.Q956* 17 78899227 78899227 RL952_ENDOMETRI... 37 Nonsense_Mutation SNP C T uc002jyt.1 RPTOR_uc010wug.... Hybrid_Cap... view
SACS p.A3994V 13 23906034 23906034 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SACS p.K1717fs 13 23912864 23912864 RL952_ENDOMETRI... 37 Frame_Shift_Del Del T - uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap...
SCYL2 p.T553I 12 100722994 100722994 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc001thn.2 SCYL2_uc001thm.... Hybrid_Cap... view
SCYL3 1 169822739 169822739 RL952_ENDOMETRI... 37 3'UTR SNP G A uc001ggs.2 SCYL3_uc010plw.... Hybrid_Cap... view
SEMA3B p.I242F 3 50310788 50310788 RL952_ENDOMETRI... 37 Missense_Mutation SNP A T uc003cyu.2 SEMA3B_uc010hlh... Hybrid_Cap... view
SEMA5B p.R348H 3 122645332 122645332 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003efz.1 SEMA5B_uc011bju... Hybrid_Cap... view
SEPT3 p.S184F 22 42383763 42383763 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003bbr.3 WBP2NL_uc011ape... Hybrid_Cap... view
SGK196 p.S219N 8 42977623 42977623 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc003xpw.2 Hybrid_Cap... view
SMAD7 p.P209fs 18 46474795 46474795 RL952_ENDOMETRI... 37 Frame_Shift_Del Del G - uc002ldg.2 SMAD7_uc010xde.... Hybrid_Cap...
SMARCA4 p.K887del 19 11132442 11132444 RL952_ENDOMETRI... 37 In_Frame_Del Del GAA - uc010dxo.2 SMARCA4_uc002mq... Hybrid_Cap...
SMARCA4 p.E1609G 19 11170523 11170523 RL952_ENDOMETRI... 37 Missense_Mutation SNP A G uc010dxo.2 SMARCA4_uc002mq... Hybrid_Cap... view
SMURF2 17 62541847 62541855 RL952_ENDOMETRI... 37 3'UTR Del AAAAA... - rs34099610;rs67889006;rs2872314;rs3066127 uc002jep.1 SMURF2_uc002jeq... Hybrid_Cap...
SORL1 11 121500401 121500403 RL952_ENDOMETRI... 37 3'UTR Del AAA - uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap...
SOS1 p.N233I 2 39281777 39281777 RL952_ENDOMETRI... 37 Missense_Mutation SNP T A uc002rrk.3 SOS1_uc010ynr.1... Hybrid_Cap... view
SOX11 p.D112H 2 5833187 5833187 RL952_ENDOMETRI... 37 Missense_Mutation SNP G C uc002qyj.2 Hybrid_Cap... view
SP140 2 231103655 231103655 RL952_ENDOMETRI... 37 Intron SNP G A uc002vql.2 SP140_uc010zma.... Hybrid_Cap... view
SPEG p.P2965L 2 220354634 220354634 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc010fwg.2 Hybrid_Cap... view
SPEN p.R2103fs 1 16259043 16259043 RL952_ENDOMETRI... 37 Frame_Shift_Del Del G - uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap...
SPEN p.A1991V 1 16258707 16258707 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
SPEN p.S288N 1 16203155 16203155 RL952_ENDOMETRI... 37 Missense_Mutation SNP G A uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
SPTAN1 p.R675C 9 131346078 131346078 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc004bvm.3 SPTAN1_uc011mbg... Hybrid_Cap... view
SRF p.H413Y 6 43146106 43146106 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc003oui.2 SRF_uc011dvf.1_... Hybrid_Cap... view
STAC2 p.R219H 17 37371414 37371414 RL952_ENDOMETRI... 37 Missense_Mutation SNP C T uc002hrs.2 STAC2_uc010cvt.... Hybrid_Cap... view
STAG3 p.L642I 7 99798455 99798455 RL952_ENDOMETRI... 37 Missense_Mutation SNP C A uc003utx.1 STAG3_uc010lgs.... Hybrid_Cap... view
STARD3 p.R193C 17 37815004 37815004