Annotation Summary for Cell Line: MHH-ES-1  

Cell line primary name: MHH-ES-1
Cell line aliases:
Gender: M
Site Primary: bone
Histology: Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour
Hist Subtype1: NS
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_C09_474764
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_D09_490422
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in MHH-ES-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 MHHES1_BONE 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABI1 p.P418del 10 27040624 27040626 MHHES1_BONE 37 In_Frame_Del Del TGG - uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 MHHES1_BONE 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 MHHES1_BONE 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 MHHES1_BONE 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 MHHES1_BONE 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 MHHES1_BONE 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ARHGEF7 p.R758C 13 111944539 111944539 MHHES1_BONE 37 Missense_Mutation SNP C T uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap... view
BAI3 p.I108V 6 69348889 69348889 MHHES1_BONE 37 Missense_Mutation SNP A G uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BCR 22 23631813 23631814 MHHES1_BONE 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 MHHES1_BONE 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BRD2 p.E500del 6 32945699 32945701 MHHES1_BONE 37 In_Frame_Del Del GAG - uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
CABC1 1 227171736 227171737 MHHES1_BONE 37 Intron Ins - T rs1574184 uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828721 18828722 MHHES1_BONE 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2A 5 149602223 149602224 MHHES1_BONE 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 MHHES1_BONE 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 MHHES1_BONE 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 MHHES1_BONE 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 MHHES1_BONE 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CXCL12 10 44873992 44873993 MHHES1_BONE 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DST p.E2519Q 6 56433360 56433360 MHHES1_BONE 37 Missense_Mutation SNP C G uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 MHHES1_BONE 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EPHA6 3 97367230 97367231 MHHES1_BONE 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EXT1 8 118811807 118811807 MHHES1_BONE 37 3'UTR Del T - uc003yok.1 Hybrid_Cap...
EXT1 p.I625V 8 118819466 118819466 MHHES1_BONE 37 Missense_Mutation SNP T C uc003yok.1 Hybrid_Cap... view
FANCC 9 97863787 97863787 MHHES1_BONE 37 3'UTR SNP C A uc004avh.2 Hybrid_Cap... view
FANCG p.P241L 9 35077023 35077023 MHHES1_BONE 37 Missense_Mutation SNP G A uc003zwb.1 FANCG_uc003zwa.... Hybrid_Cap... view
FBN2 p.R703H 5 127705015 127705015 MHHES1_BONE 37 Missense_Mutation SNP C T uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FGFR1OP p.S172G 6 167424376 167424376 MHHES1_BONE 37 Missense_Mutation SNP A G uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 MHHES1_BONE 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 MHHES1_BONE 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 MHHES1_BONE 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT3 p.P738R 13 28599075 28599075 MHHES1_BONE 37 Missense_Mutation SNP G C uc001urw.2 FLT3_uc010aao.2... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 MHHES1_BONE 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
GRIA3 X 122318386 122318387 MHHES1_BONE 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GSK3B p.H310Q 3 119585455 119585455 MHHES1_BONE 37 Missense_Mutation SNP A T rs34009575 uc003edn.2 GSK3B_uc003edo.... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 MHHES1_BONE 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIP1 p.D967V 7 75171290 75171290 MHHES1_BONE 37 Missense_Mutation SNP T A uc003uds.1 HIP1_uc011kfz.1... Hybrid_Cap... view
HNF1A 12 121434630 121434631 MHHES1_BONE 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 MHHES1_BONE 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IGF1R 15 99192755 99192763 MHHES1_BONE 37 5'UTR Del TTTTT... - uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap...
ILK 11 6630029 6630029 MHHES1_BONE 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INHBA 7 41740067 41740068 MHHES1_BONE 37 5'UTR Ins - T rs116230303 uc003thq.2 LOC285954_uc003... Hybrid_Cap...
ITGA7 p.D454G 12 56091539 56091539 MHHES1_BONE 37 Missense_Mutation SNP T C uc001shh.2 ITGA7_uc001shg.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 MHHES1_BONE 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KCNH2 p.F129S 7 150656746 150656746 MHHES1_BONE 37 Missense_Mutation SNP A G uc003wic.2 KCNH2_uc011kux.... Hybrid_Cap... view
KLK3 p.P168Q 19 51361724 51361724 MHHES1_BONE 37 Missense_Mutation SNP C A uc002pts.1 KLK3_uc010ycj.1... Hybrid_Cap... view
KLK7 19 51480672 51480675 MHHES1_BONE 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP1B p.D2600Y 2 141283884 141283884 MHHES1_BONE 37 Missense_Mutation SNP C A uc002tvj.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 MHHES1_BONE 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K6 17 67516353 67516353 MHHES1_BONE 37 Intron SNP A T rs77138194 uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 MHHES1_BONE 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K13 p.S681T 3 185191161 185191161 MHHES1_BONE 37 Missense_Mutation SNP G C uc010hyf.2 MAP3K13_uc011br... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 MHHES1_BONE 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK14 6 36076345 36076354 MHHES1_BONE 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPKAPK2 p.R364R 1 206905952 206905952 MHHES1_BONE 37 Silent SNP C T uc001hem.1 MAPKAPK2_uc001h... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 MHHES1_BONE 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MLH1 3 37092174 37092176 MHHES1_BONE 37 3'UTR Del TTC - uc003cgl.2 MLH1_uc011aye.1... Hybrid_Cap...
MLKL 16 74706336 74706336 MHHES1_BONE 37 3'UTR SNP G A uc002fdb.2 MLKL_uc002fdc.2... Hybrid_Cap... view
MLLT3 9 20346377 20346378 MHHES1_BONE 37 3'UTR Ins - A rs66943046 uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MLLT6 17 36881873 36881873 MHHES1_BONE 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 MHHES1_BONE 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYH11 16 15797783 15797787 MHHES1_BONE 37 3'UTR Del TTTTT - uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap...
NCAM1 11 112832307 112832308 MHHES1_BONE 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 MHHES1_BONE 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA2 8 71129001 71129001 MHHES1_BONE 37 Splice_Site_SNP SNP T A uc003xyn.1 Hybrid_Cap... view
NCOA3 20 46282339 46282340 MHHES1_BONE 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NF1 p.P1951Q 17 29661895 29661895 MHHES1_BONE 37 Missense_Mutation SNP C A uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NPR1 1 153665919 153665920 MHHES1_BONE 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 MHHES1_BONE 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP153 p.S512N 6 17649485 17649485 MHHES1_BONE 37 Missense_Mutation SNP C T uc011dje.1 NUP153_uc003ncd... Hybrid_Cap... view
PAX3 2 223158653 223158653 MHHES1_BONE 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP 1 144892379 144892379 MHHES1_BONE 37 Intron SNP G A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDK1 p.Q111H 2 173423572 173423572 MHHES1_BONE 37 Missense_Mutation SNP A C uc002uhq.1 PDK1_uc010zdz.1... Hybrid_Cap... view
PGR p.A180V 11 100999263 100999263 MHHES1_BONE 37 Missense_Mutation SNP G A uc001pgh.2 PGR_uc001pgi.2_... Hybrid_Cap... view
PIK3C2A 11 17111197 17111198 MHHES1_BONE 37 3'UTR Ins - GT rs113847613 uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 MHHES1_BONE 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3R1 p.L691P 5 67593326 67593326 MHHES1_BONE 37 Missense_Mutation SNP T C uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap... view
PPP3R1 p.F15_splice 2 68415824 68415824 MHHES1_BONE 37 Splice_Site_SNP SNP T A uc002sei.1 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 MHHES1_BONE 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSKH2 p.A19D 8 87081796 87081796 MHHES1_BONE 37 Missense_Mutation SNP G T uc011lfy.1 Hybrid_Cap... view
RAD21 p.W381C 8 117866502 117866502 MHHES1_BONE 37 Missense_Mutation SNP C A uc003yod.2 Hybrid_Cap... view
RAPGEF2 4 160189197 160189198 MHHES1_BONE 37 5'UTR Ins - C uc003iqg.3 Hybrid_Cap...
RAPGEF2 4 160189224 160189224 MHHES1_BONE 37 5'UTR SNP A T uc003iqg.3 Hybrid_Cap... view
RASA1 p.H736Q 5 86672721 86672721 MHHES1_BONE 37 Missense_Mutation SNP T G uc003kiw.2 RASA1_uc010jav.... Hybrid_Cap... view
SLC6A8 X 152957656 152957657 MHHES1_BONE 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
SMURF1 p.I143T 7 98652464 98652464 MHHES1_BONE 37 Missense_Mutation SNP A G uc003upu.1 SMURF1_uc003upv... Hybrid_Cap... view
SORL1 11 121500400 121500401 MHHES1_BONE 37 3'UTR Ins - A rs73020651 uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap...
STK31 7 23872024 23872025 MHHES1_BONE 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAF1L p.Y1802* 9 32630172 32630172 MHHES1_BONE 37 Nonsense_Mutation SNP A C uc003zrg.1 Hybrid_Cap... view
TCF21 6 134210498 134210499 MHHES1_BONE 37 5'UTR Del TC - uc003qei.3 TCF21_uc003qej.... Hybrid_Cap...
THRSP p.R19W 11 77774982 77774982 MHHES1_BONE 37 Missense_Mutation SNP C T uc001oyx.2 Hybrid_Cap... view
TMEM123 11 102269398 102269398 MHHES1_BONE 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.S215del 17 7578204 7578206 MHHES1_BONE 37 In_Frame_Del Del ACT - uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TP63 3 189507518 189507519 MHHES1_BONE 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPS1 8 116635872 116635873 MHHES1_BONE 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TRRAP p.P1429R 7 98535325 98535325 MHHES1_BONE 37 Missense_Mutation SNP C G uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TSHR 14 81610812 81610812 MHHES1_BONE 37 3'UTR SNP C A uc001xvd.1 Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 MHHES1_BONE 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN p.R18550W 2 179452782 179452782 MHHES1_BONE 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.P3686Q 2 179600384 179600384 MHHES1_BONE 37 Missense_Mutation SNP G T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VAV1 p.D461Y 19 6829912 6829912 MHHES1_BONE 37 Missense_Mutation SNP G T uc002mfu.1 VAV1_uc010xjh.1... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 MHHES1_BONE 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZNF423 p.N1056S 16 49669896 49669896 MHHES1_BONE 37 Missense_Mutation SNP T C uc002efs.2 ZNF423_uc010vgn... Hybrid_Cap... view