Annotation Summary for Cell Line: HT-1376  

Cell line primary name: HT-1376
Cell line aliases:
Gender: F
Site Primary: urinary_tract
Histology: carcinoma
Hist Subtype1: transitional_cell_carcinoma
Notes:
Source: ATCC
Expression arrays: METIS_p_NCLE_RNA1_Human_U133_Plus_2.0_D01_240922
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_E03_256102
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HT-1376

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABCC3 p.D1169E 17 48755233 48755233 HT1376_URINARY_... 37 Missense_Mutation SNP T G uc002isl.2 ABCC3_uc002isn.... Hybrid_Cap... view
ACACA p.E1927K 17 35487045 35487045 HT1376_URINARY_... 37 Missense_Mutation SNP C T rs71879928 uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ADAM10 p.L9V 15 59041709 59041709 HT1376_URINARY_... 37 Missense_Mutation SNP G C uc002afd.1 ADAM10_uc010bgc... Hybrid_Cap... view
ADAM28 8 24211994 24211997 HT1376_URINARY_... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADRBK2 p.I513M 22 26110422 26110422 HT1376_URINARY_... 37 Missense_Mutation SNP C G uc003abx.3 ADRBK2_uc003abw... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 HT1376_URINARY_... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 HT1376_URINARY_... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ARID1A p.S186fs 1 27023451 27023464 HT1376_URINARY_... 37 Frame_Shift_Del Del GCGGC... - uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap...
BCR 22 23631813 23631814 HT1376_URINARY_... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 HT1376_URINARY_... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BTG1 12 92537706 92537707 HT1376_URINARY_... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
C15ORF2 p.A93V 15 24921292 24921292 HT1376_URINARY_... 37 Missense_Mutation SNP C T uc001ywo.2 Hybrid_Cap... view
CARD10 p.KE272del 22 37906309 37906314 HT1376_URINARY_... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CATSPERB p.R756* 14 92084075 92084075 HT1376_URINARY_... 37 Nonsense_Mutation SNP G A uc001xzs.1 CATSPERB_uc010a... Hybrid_Cap... view
CCNT1 p.H521Y 12 49087436 49087436 HT1376_URINARY_... 37 Missense_Mutation SNP G A uc001rse.1 LOC144438_uc001... Hybrid_Cap... view
CDC42BPB p.Q817H 14 103433403 103433403 HT1376_URINARY_... 37 Missense_Mutation SNP C G uc001ymi.1 CDC42BPB_uc001y... Hybrid_Cap... view
CDK11B 1 1654066 1654068 HT1376_URINARY_... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK8 p.V78V 13 26923238 26923238 HT1376_URINARY_... 37 Silent SNP C A uc001uqr.1 CDK8_uc001uqs.1... Hybrid_Cap... view
CDKN1A p.R53fs 6 36651934 36651935 HT1376_URINARY_... 37 Frame_Shift_Ins Ins - C uc011dtq.1 CDKN1A_uc003oml... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 HT1376_URINARY_... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 HT1376_URINARY_... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL1A1 17 48278899 48278899 HT1376_URINARY_... 37 5'UTR SNP C G uc002iqm.2 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 HT1376_URINARY_... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CXCL12 10 44873992 44873993 HT1376_URINARY_... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DGKB p.G719S 7 14217747 14217747 HT1376_URINARY_... 37 Missense_Mutation SNP C T uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
EDN1 6 12290729 12290729 HT1376_URINARY_... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EIF4E 4 99808137 99808141 HT1376_URINARY_... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EP300 22 41574970 41574972 HT1376_URINARY_... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 HT1376_URINARY_... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 7 142568771 142568771 HT1376_URINARY_... 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
ETV1 7 14028708 14028708 HT1376_URINARY_... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 HT1376_URINARY_... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 HT1376_URINARY_... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNB p.P557L 3 58090866 58090866 HT1376_URINARY_... 37 Missense_Mutation SNP C T uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FLT4 5 180030163 180030163 HT1376_URINARY_... 37 3'UTR SNP C G uc003mlz.3 Hybrid_Cap... view
FN1 2 216244182 216244185 HT1376_URINARY_... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GRIA3 X 122318386 122318387 HT1376_URINARY_... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 HT1376_URINARY_... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
GUCY2C p.R319Q 12 14827687 14827687 HT1376_URINARY_... 37 Missense_Mutation SNP C T uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap... view
HIF1A 14 62213929 62213930 HT1376_URINARY_... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 HT1376_URINARY_... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HOXA13 p.L271V 7 27238886 27238886 HT1376_URINARY_... 37 Missense_Mutation SNP G C uc003szb.1 Hybrid_Cap... view
ILK 11 6630029 6630029 HT1376_URINARY_... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRS1 p.E37K 2 227663346 227663346 HT1376_URINARY_... 37 Missense_Mutation SNP C T uc002voh.3 Hybrid_Cap... view
ITPR1 p.T2313M 3 4842259 4842259 HT1376_URINARY_... 37 Missense_Mutation SNP C T uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
MAF 16 79628537 79628537 HT1376_URINARY_... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAF 16 79628325 79628325 HT1376_URINARY_... 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 HT1376_URINARY_... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K6 p.T28I 17 67501987 67501987 HT1376_URINARY_... 37 Missense_Mutation SNP C T uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 HT1376_URINARY_... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP4K3 p.G190fs 2 39553380 39553380 HT1376_URINARY_... 37 Frame_Shift_Del Del C - uc002rro.2 MAP4K3_uc002rrp... Hybrid_Cap...
MAPK14 p.L13L 6 35995973 35995973 HT1376_URINARY_... 37 Silent SNP G C uc003olp.2 MAPK14_uc011dth... Hybrid_Cap... view
MARK3 p.R388T 14 103934422 103934422 HT1376_URINARY_... 37 Missense_Mutation SNP G C uc001ymz.3 MARK3_uc001ymx.... Hybrid_Cap... view
MLH1 p.P603R 3 37089086 37089086 HT1376_URINARY_... 37 Missense_Mutation SNP C G rs63750876 uc003cgl.2 MLH1_uc011aye.1... Hybrid_Cap... view
MLLT4 p.D1733N 6 168366656 168366656 HT1376_URINARY_... 37 Missense_Mutation SNP G A uc003qwd.2 Hybrid_Cap... view
MRE11A p.S613L 11 94179005 94179005 HT1376_URINARY_... 37 Missense_Mutation SNP G A uc001peu.2 MRE11A_uc001pev... Hybrid_Cap... view
MYH1 p.K1394T 17 10401943 10401943 HT1376_URINARY_... 37 Missense_Mutation SNP T G uc002gmo.2 Hybrid_Cap... view
NCAM1 11 112832307 112832308 HT1376_URINARY_... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HT1376_URINARY_... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 HT1376_URINARY_... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NIPBL p.R816H 5 36985729 36985729 HT1376_URINARY_... 37 Missense_Mutation SNP G A rs80358359 uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NIPBL p.N968S 5 36986185 36986185 HT1376_URINARY_... 37 Missense_Mutation SNP A G uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NLRP3 1 247611982 247611982 HT1376_URINARY_... 37 3'UTR Del C - uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap...
NPAT 11 108042791 108042791 HT1376_URINARY_... 37 Intron SNP C T uc001pjz.3 NPAT_uc010rvv.1... Hybrid_Cap... view
NPAT 11 108042866 108042866 HT1376_URINARY_... 37 Intron SNP T C uc001pjz.3 NPAT_uc010rvv.1... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 HT1376_URINARY_... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OR2L13 p.W192C 1 248263253 248263253 HT1376_URINARY_... 37 Missense_Mutation SNP G T uc001ids.2 Hybrid_Cap... view
PAPPA p.F1208L 9 119106834 119106834 HT1376_URINARY_... 37 Missense_Mutation SNP C G uc004bjn.2 PAPPA_uc011lxq.... Hybrid_Cap... view
PBK 8 27667649 27667649 HT1376_URINARY_... 37 3'UTR SNP C T rs117291578 uc011lap.1 ESCO2_uc010luy.... Hybrid_Cap... view
PDE4DIP p.Q1665fs 1 144873963 144873963 HT1376_URINARY_... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDK4 p.R124* 7 95222231 95222231 HT1376_URINARY_... 37 Nonsense_Mutation SNP G A uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap... view
PDZRN4 p.R723Q 12 41967346 41967346 HT1376_URINARY_... 37 Missense_Mutation SNP G A uc010skn.1 PDZRN4_uc001rmq... Hybrid_Cap... view
PI4KB 1 151265195 151265195 HT1376_URINARY_... 37 3'UTR SNP C T uc001exr.2 PI4KB_uc001exs.... Hybrid_Cap... view
PIK3C2A p.H694Y 11 17156394 17156394 HT1376_URINARY_... 37 Missense_Mutation SNP G A uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap... view
PMS2 p.I18T 7 6045633 6045633 HT1376_URINARY_... 37 Missense_Mutation SNP A G uc003spl.2 PMS2_uc003spj.2... Hybrid_Cap... view
PPP3CC p.D234Y 8 22370875 22370875 HT1376_URINARY_... 37 Missense_Mutation SNP G T uc011kzi.1 PPP3CC_uc003xbr... Hybrid_Cap... view
PRKCI p.G243D 3 169998037 169998037 HT1376_URINARY_... 37 Missense_Mutation SNP G A uc003fgs.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 HT1376_URINARY_... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRU p.R319C 1 29587226 29587226 HT1376_URINARY_... 37 Missense_Mutation SNP C T uc001bru.2 PTPRU_uc001brv.... Hybrid_Cap... view
RB1 p.Q702* 13 49033967 49033967 HT1376_URINARY_... 37 Nonsense_Mutation SNP C T uc001vcb.2 Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 HT1376_URINARY_... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
REL p.G106D 2 61128141 61128141 HT1376_URINARY_... 37 Missense_Mutation SNP G A uc002sam.1 REL_uc002san.1_... Hybrid_Cap... view
RGS22 p.F725S 8 101020790 101020790 HT1376_URINARY_... 37 Missense_Mutation SNP A G uc003yjb.1 RGS22_uc003yja.... Hybrid_Cap... view
RICTOR 5 38942186 38942186 HT1376_URINARY_... 37 3'UTR SNP G T uc003jlo.2 RICTOR_uc003jlp... Hybrid_Cap... view
RIF1 p.F447V 2 152293484 152293484 HT1376_URINARY_... 37 Missense_Mutation SNP T G uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap... view
ROBO2 p.N786D 3 77629113 77629113 HT1376_URINARY_... 37 Missense_Mutation SNP A G uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
SLK 10 105785609 105785610 HT1376_URINARY_... 37 3'UTR Ins - T rs72044204 uc001kxo.1 SLK_uc001kxp.1_... Hybrid_Cap...
SPEG p.D936N 2 220329255 220329255 HT1376_URINARY_... 37 Missense_Mutation SNP G A uc010fwg.2 SPEG_uc002vlm.2... Hybrid_Cap... view
STK32A p.S247F 5 146750296 146750296 HT1376_URINARY_... 37 Missense_Mutation SNP C T uc011dbw.1 STK32A_uc003lom... Hybrid_Cap... view
TG p.R170C 8 133885336 133885336 HT1376_URINARY_... 37 Missense_Mutation SNP C T rs114349877 uc003ytw.2 Hybrid_Cap... view
TLK1 2 171850178 171850179 HT1376_URINARY_... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 HT1376_URINARY_... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNRC6B p.G393V 22 40661412 40661412 HT1376_URINARY_... 37 Missense_Mutation SNP G T uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap... view
TOPBP1 p.R1369T 3 133329915 133329915 HT1376_URINARY_... 37 Missense_Mutation SNP C G uc003eps.2 Hybrid_Cap... view
TP53 p.P250L 17 7577532 7577532 HT1376_URINARY_... 37 Missense_Mutation SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507629 189507629 HT1376_URINARY_... 37 Intron SNP G C uc003fry.2 TP63_uc003frx.2... Hybrid_Cap... view
TRIM33 1 114940215 114940216 HT1376_URINARY_... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TTN 2 179391639 179391640 HT1376_URINARY_... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.S27420F 2 179417664 179417664 HT1376_URINARY_... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
ZNF668 16 31072346 31072346 HT1376_URINARY_... 37 3'UTR Del G - uc010caf.2 ZNF668_uc002eao... Hybrid_Cap...