Annotation Summary for Cell Line: HT-144  

Cell line primary name: HT-144
Cell line aliases:
Gender: M
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: MAKER_p_NCLE_RNA7_HG-U133_Plus_2_B08_454598
SNP arrays: LOBBY_p_NCLE_DNAAffy6_GenomeWideSNP_6_C10_437272
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HT-144

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 HT144_SKIN 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCC4 p.R824H 13 95768240 95768240 HT144_SKIN 37 Missense_Mutation SNP C T uc001vmd.3 ABCC4_uc010afk.... Hybrid_Cap... view
ADAM17 2 9630241 9630245 HT144_SKIN 37 3'UTR Del TTGAT - rs3833563 uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 HT144_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS18 p.G753S 16 77355006 77355006 HT144_SKIN 37 Missense_Mutation SNP C T uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 HT144_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 HT144_SKIN 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 HT144_SKIN 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ATM p.W2845* 11 108216585 108216586 HT144_SKIN 37 Nonsense_Mutation DNP GG AA uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap...
AURKC 19 57742494 57742507 HT144_SKIN 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCL2L1 p.T69I 20 30309816 30309816 HT144_SKIN 37 Missense_Mutation SNP G A uc002wwl.2 BCL2L1_uc002wwk... Hybrid_Cap... view
BCL2L1 p.G67V 20 30309822 30309822 HT144_SKIN 37 Missense_Mutation SNP C A uc002wwl.2 BCL2L1_uc002wwk... Hybrid_Cap... view
BCR 22 23631813 23631814 HT144_SKIN 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 HT144_SKIN 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIRC5 17 76219784 76219785 HT144_SKIN 37 3'UTR Ins - AA uc002jvf.2 BIRC5_uc002jvg.... Hybrid_Cap...
BRAF p.V600E 7 140453136 140453136 HT144_SKIN 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
BRD2 6 32948599 32948599 HT144_SKIN 37 3'UTR Del C - uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
BTG1 12 92537706 92537707 HT144_SKIN 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CASP1 p.L206F 11 104901068 104901068 HT144_SKIN 37 Missense_Mutation SNP G A uc010rve.1 CASP1_uc001pig.... Hybrid_Cap... view
CDH3 p.D801N 16 68732214 68732214 HT144_SKIN 37 Missense_Mutation SNP G A uc002ewf.2 CDH3_uc010vli.1... Hybrid_Cap... view
CDK11B 1 1654066 1654068 HT144_SKIN 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK13 p.A476T 7 40027412 40027412 HT144_SKIN 37 Missense_Mutation SNP G A uc003thh.3 CDK13_uc003thi.... Hybrid_Cap... view
CDKN1A 6 36653612 36653612 HT144_SKIN 37 3'UTR SNP G A uc011dtq.1 CDKN1A_uc003omm... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 HT144_SKIN 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 HT144_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREBBP p.P1279_splice 16 3795356 3795356 HT144_SKIN 37 Splice_Site_SNP SNP C A uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
DMPK p.Y176C 19 46281883 46281883 HT144_SKIN 37 Missense_Mutation SNP T C uc002pdi.1 DMPK_uc010xxs.1... Hybrid_Cap... view
DPYD 1 98386586 98386586 HT144_SKIN 37 5'UTR SNP A G uc001drv.2 DPYD_uc010oub.1... Hybrid_Cap... view
EDN1 6 12290729 12290729 HT144_SKIN 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EPHA6 3 97367230 97367231 HT144_SKIN 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA6 3 97467610 97467611 HT144_SKIN 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
EPHA7 p.T613I 6 93969158 93969158 HT144_SKIN 37 Missense_Mutation SNP G A uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
EPHA8 1 22915892 22915895 HT144_SKIN 37 Intron Del TAAG - uc001bfx.1 EPHA8_uc001bfw.... Hybrid_Cap...
FER 5 108133835 108133835 HT144_SKIN 37 5'UTR SNP A G uc003kop.1 FER_uc011cve.1_... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 HT144_SKIN 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 HT144_SKIN 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 HT144_SKIN 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNB p.S1159L 3 58109169 58109169 HT144_SKIN 37 Missense_Mutation SNP C T uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FLT4 5 180035183 180035185 HT144_SKIN 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 HT144_SKIN 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 HT144_SKIN 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FZD1 p.93_94insP 7 90894459 90894460 HT144_SKIN 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GRIA3 X 122318386 122318387 HT144_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
HIF1A 14 62213929 62213930 HT144_SKIN 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HSPA1B 6 31797769 31797770 HT144_SKIN 37 3'UTR Ins - AAGTT rs67206812 uc003nxk.2 Hybrid_Cap...
ILK 11 6630029 6630029 HT144_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR1 p.N2212S 3 4829794 4829794 HT144_SKIN 37 Missense_Mutation SNP A G uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 HT144_SKIN 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 HT144_SKIN 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LMTK2 p.T96P 7 97770763 97770763 HT144_SKIN 37 Missense_Mutation SNP A C uc003upd.1 Hybrid_Cap... view
MAF 16 79628537 79628537 HT144_SKIN 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 HT144_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 HT144_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 HT144_SKIN 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K5 p.D1197A 6 136888940 136888940 HT144_SKIN 37 Missense_Mutation SNP T G uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 HT144_SKIN 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42111746 42111746 HT144_SKIN 37 Intron Del G - uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MLLT3 9 20346377 20346378 HT144_SKIN 37 3'UTR Ins - A rs66943046 uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MYST4 p.E1104del 10 76781906 76781908 HT144_SKIN 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
MYST4 10 76790935 76790936 HT144_SKIN 37 3'UTR Ins - A rs3832681 uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NCAM1 11 112832307 112832308 HT144_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HT144_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NFIA 1 61921185 61921186 HT144_SKIN 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NGFR 17 47590457 47590458 HT144_SKIN 37 3'UTR Ins - G uc002ioz.3 Hybrid_Cap...
NLRP1 p.T447I 17 5462676 5462676 HT144_SKIN 37 Missense_Mutation SNP G A uc002gci.2 NLRP1_uc002gcg.... Hybrid_Cap... view
NOTCH4 p.15_16LL>L 6 32191659 32191661 HT144_SKIN 37 In_Frame_Del Del AGC - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPM1 5 170837734 170837734 HT144_SKIN 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 HT144_SKIN 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP133 p.L1055S 1 229586288 229586288 HT144_SKIN 37 Missense_Mutation SNP A G uc001htn.2 Hybrid_Cap... view
NUP214 p.G622E 9 134021611 134021611 HT144_SKIN 37 Missense_Mutation SNP G A uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
PAX3 2 223158653 223158653 HT144_SKIN 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDGFRA 4 55131002 55131002 HT144_SKIN 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PI4KB 1 151265073 151265073 HT144_SKIN 37 3'UTR SNP G A uc001exr.2 PI4KB_uc001exs.... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 HT144_SKIN 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PMS1 2 190670539 190670540 HT144_SKIN 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 HT144_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTCH1 p.I108M 9 98268759 98268759 HT144_SKIN 37 Missense_Mutation SNP T C uc004avk.3 PTCH1_uc010mro.... Hybrid_Cap... view
RBPJ p.A212D 4 26426063 26426063 HT144_SKIN 37 Missense_Mutation SNP C A uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RBPJ p.R238* 4 26426291 26426291 HT144_SKIN 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 HT144_SKIN 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
STAT3 p.M99K 17 40497653 40497653 HT144_SKIN 37 Missense_Mutation SNP A T uc002hzl.1 STAT3_uc002hzk.... Hybrid_Cap... view
STK25 2 242435659 242435662 HT144_SKIN 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
TLK1 2 171850178 171850179 HT144_SKIN 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TLR3 p.T248A 4 187003582 187003582 HT144_SKIN 37 Missense_Mutation SNP A G uc003iyq.2 TLR3_uc011ckz.1... Hybrid_Cap... view
TMEM123 11 102269398 102269398 HT144_SKIN 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TTN p.E19950K 2 179444372 179444372 HT144_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E8695K 2 179569384 179569384 HT144_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E5951K 2 179588244 179588244 HT144_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VDR p.R72W 12 48272833 48272833 HT144_SKIN 37 Missense_Mutation SNP G A uc001rql.2 VDR_uc001rqm.2_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 HT144_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK2 p.V1488L 9 96051387 96051387 HT144_SKIN 37 Missense_Mutation SNP G T uc004ati.1 WNK2_uc011lud.1... Hybrid_Cap... view
ZAP70 2 98351655 98351655 HT144_SKIN 37 Intron Del G - uc002syd.1 ZAP70_uc010yvf.... Hybrid_Cap...