Annotation Summary for Cell Line: HH  

Cell line primary name: HH
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: adult_T_cell_lymphoma-leukaemia
Notes:
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_C05_383644
SNP arrays: FASTS_p_NCLE_DNAAffy4_S_GenomeWideSNP_6_G01_335332
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HH

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 HH_HAEMATOPOIET... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 HH_HAEMATOPOIET... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 p.Q491* 8 24193058 24193058 HH_HAEMATOPOIET... 37 Nonsense_Mutation SNP C T uc003xdy.2 ADAM28_uc003xdx... Hybrid_Cap... view
ADAM28 8 24211994 24211997 HH_HAEMATOPOIET... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 HH_HAEMATOPOIET... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 HH_HAEMATOPOIET... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ASPH 8 62577791 62577791 HH_HAEMATOPOIET... 37 Intron SNP G A uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
AURKC 19 57742494 57742507 HH_HAEMATOPOIET... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCR 22 23631813 23631814 HH_HAEMATOPOIET... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIRC6 2 32843085 32843085 HH_HAEMATOPOIET... 37 3'UTR SNP T C uc010ezu.2 Hybrid_Cap... view
BTG1 12 92537706 92537707 HH_HAEMATOPOIET... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CACNB2 10 18828721 18828722 HH_HAEMATOPOIET... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDK11B 1 1654066 1654068 HH_HAEMATOPOIET... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 HH_HAEMATOPOIET... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHL1 3 361426 361426 HH_HAEMATOPOIET... 37 5'UTR SNP C T uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 HH_HAEMATOPOIET... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 HH_HAEMATOPOIET... 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN5 p.P357L 11 99932033 99932033 HH_HAEMATOPOIET... 37 Missense_Mutation SNP C T rs56122118 uc001pga.2 CNTN5_uc009ywv.... Hybrid_Cap... view
CNTN6 3 1339681 1339686 HH_HAEMATOPOIET... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 HH_HAEMATOPOIET... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSMD3 p.E13D 8 114449045 114449045 HH_HAEMATOPOIET... 37 Missense_Mutation SNP T A uc003ynu.2 CSMD3_uc011lhx.... Hybrid_Cap... view
CSPG4 p.Q1750K 15 75969612 75969612 HH_HAEMATOPOIET... 37 Missense_Mutation SNP G T uc002baw.2 Hybrid_Cap... view
CSPG4 p.R740P 15 75981187 75981187 HH_HAEMATOPOIET... 37 Missense_Mutation SNP C G uc002baw.2 Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 HH_HAEMATOPOIET... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CTNNB1 p.E562_splice 3 41277214 41277214 HH_HAEMATOPOIET... 37 Splice_Site_SNP SNP G A uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
CXCL12 10 44873992 44873993 HH_HAEMATOPOIET... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CYP1B1 2 38297654 38297655 HH_HAEMATOPOIET... 37 3'UTR Ins - A rs9341258 uc002rqo.2 Hybrid_Cap...
DACH1 13 72014625 72014626 HH_HAEMATOPOIET... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DST p.D243N 6 56569128 56569128 HH_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EHBP1 2 62934164 62934164 HH_HAEMATOPOIET... 37 5'UTR SNP C T uc002sby.2 EHBP1_uc010fcp.... Hybrid_Cap... view
EIF2AK1 7 6064210 6064210 HH_HAEMATOPOIET... 37 3'UTR SNP C T uc003spp.2 EIF2AK1_uc003sp... Hybrid_Cap... view
EPHA3 p.V657L 3 89468435 89468435 HH_HAEMATOPOIET... 37 Missense_Mutation SNP G C uc003dqy.2 EPHA3_uc010hon.... Hybrid_Cap... view
EPHA5 4 66189753 66189754 HH_HAEMATOPOIET... 37 3'UTR Ins - T rs67487372 uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap...
EPHA6 3 97367230 97367231 HH_HAEMATOPOIET... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 HH_HAEMATOPOIET... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
EXT1 8 118811807 118811807 HH_HAEMATOPOIET... 37 3'UTR Del T - uc003yok.1 Hybrid_Cap...
FGFR1OP 6 167453519 167453520 HH_HAEMATOPOIET... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 HH_HAEMATOPOIET... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 HH_HAEMATOPOIET... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 p.E40V 3 71247414 71247414 HH_HAEMATOPOIET... 37 Missense_Mutation SNP T A uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap... view
GRIA3 X 122318386 122318387 HH_HAEMATOPOIET... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 HH_HAEMATOPOIET... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 HH_HAEMATOPOIET... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 HH_HAEMATOPOIET... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSPB8 p.S66L 12 119617314 119617314 HH_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc001txb.2 HSPB8_uc001txc.... Hybrid_Cap... view
IKBKB 8 42178191 42178191 HH_HAEMATOPOIET... 37 Intron SNP A G uc003xow.1 IKBKB_uc010lxh.... Hybrid_Cap... view
ILK 11 6630029 6630029 HH_HAEMATOPOIET... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITIH5L p.W359_splice X 54786186 54786187 HH_HAEMATOPOIET... 37 Splice_Site_Ins Ins - A uc004dtj.2 Hybrid_Cap...
KLK7 19 51480672 51480675 HH_HAEMATOPOIET... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP2 p.G4301W 2 170002344 170002344 HH_HAEMATOPOIET... 37 Missense_Mutation SNP C A uc002ues.2 Hybrid_Cap... view
MAGEB16 X 35821443 35821443 HH_HAEMATOPOIET... 37 3'UTR SNP G A uc010ngt.1 Hybrid_Cap... view
MAK 6 10830883 10830883 HH_HAEMATOPOIET... 37 5'UTR SNP T C uc003mzl.2 SYCP2L_uc011dim... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 HH_HAEMATOPOIET... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K5 15 67878113 67878113 HH_HAEMATOPOIET... 37 Intron SNP A G uc002aqu.2 MAP2K5_uc002aqt... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 HH_HAEMATOPOIET... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 HH_HAEMATOPOIET... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP4K4 p.R565Q 2 102476316 102476316 HH_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc002tbc.2 MAP4K4_uc002tbd... Hybrid_Cap... view
MAPK14 p.P243T 6 36068009 36068009 HH_HAEMATOPOIET... 37 Missense_Mutation SNP C A uc003olp.2 MAPK14_uc003olo... Hybrid_Cap... view
MLLT3 9 20346377 20346378 HH_HAEMATOPOIET... 37 3'UTR Ins - A rs66943046 uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 HH_HAEMATOPOIET... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYH1 p.D33E 17 10419861 10419861 HH_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc002gmo.2 Hybrid_Cap... view
N4BP2 p.E631V 4 40121623 40121623 HH_HAEMATOPOIET... 37 Missense_Mutation SNP A T uc003guy.3 N4BP2_uc010ifq.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 HH_HAEMATOPOIET... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HH_HAEMATOPOIET... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279864 46279866 HH_HAEMATOPOIET... 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 HH_HAEMATOPOIET... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 HH_HAEMATOPOIET... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPM1 5 170837734 170837734 HH_HAEMATOPOIET... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 HH_HAEMATOPOIET... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 HH_HAEMATOPOIET... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 HH_HAEMATOPOIET... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 9 134067556 134067557 HH_HAEMATOPOIET... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
OLFM4 p.T93I 13 53608556 53608556 HH_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc001vhl.2 OLFM4_uc001vhk.... Hybrid_Cap... view
OR4E2 p.R233C 14 22133993 22133993 HH_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc010tmd.1 Hybrid_Cap... view
PAX3 2 223158653 223158653 HH_HAEMATOPOIET... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PGR 11 100933598 100933599 HH_HAEMATOPOIET... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PRKAA2 p.R239H 1 57161760 57161760 HH_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc001cyk.3 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 HH_HAEMATOPOIET... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PXDN 2 1657265 1657265 HH_HAEMATOPOIET... 37 Intron SNP G A uc002qxa.2 PXDN_uc002qxb.1... Hybrid_Cap... view
RIMS2 p.Q61H 8 104897676 104897676 HH_HAEMATOPOIET... 37 Missense_Mutation SNP G C uc003yls.2 RIMS2_uc003ylp.... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 HH_HAEMATOPOIET... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 HH_HAEMATOPOIET... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
STK25 2 242435659 242435662 HH_HAEMATOPOIET... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 HH_HAEMATOPOIET... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TCERG1L 10 132891351 132891351 HH_HAEMATOPOIET... 37 3'UTR SNP C T uc001lkp.2 Hybrid_Cap... view
TLK1 2 171911567 171911567 HH_HAEMATOPOIET... 37 Intron SNP A G uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap... view
TLR4 9 120476958 120476958 HH_HAEMATOPOIET... 37 3'UTR SNP C T uc004bjz.2 TLR4_uc004bka.2... Hybrid_Cap... view
TMEM123 11 102269398 102269398 HH_HAEMATOPOIET... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.G187_splice 17 7578290 7578290 HH_HAEMATOPOIET... 37 Splice_Site_SNP SNP C T uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 HH_HAEMATOPOIET... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940215 114940216 HH_HAEMATOPOIET... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRIM36 5 114513560 114513560 HH_HAEMATOPOIET... 37 Intron SNP T C uc003kqs.2 TRIM36_uc003kqt... Hybrid_Cap... view
TTN p.R30797W 2 179401743 179401743 HH_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UNC13C p.H536R 15 54306707 54306707 HH_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc002ack.2 Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 HH_HAEMATOPOIET... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...