Annotation Summary for Cell Line: HT-1080  

Cell line primary name: HT-1080
Cell line aliases:
Gender: M
Site Primary: soft_tissue
Histology: fibrosarcoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: AGENT_p_NCLE_RNA6_HG-U133_Plus_2_D08_436576
SNP arrays: LOBBY_p_NCLE_DNAAffy6_GenomeWideSNP_6_E05_437252
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HT-1080

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 HT1080_SOFT_TIS... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 HT1080_SOFT_TIS... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 HT1080_SOFT_TIS... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 HT1080_SOFT_TIS... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
BRCA2 p.D596H 13 32907401 32907401 HT1080_SOFT_TIS... 37 Missense_Mutation SNP G C rs56328701 uc001uub.1 BRCA2_uc001uua.... Hybrid_Cap... view
CABC1 1 227171585 227171585 HT1080_SOFT_TIS... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828721 18828722 HT1080_SOFT_TIS... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CCNA2 4 122738763 122738763 HT1080_SOFT_TIS... 37 3'UTR SNP A G uc003iec.3 Hybrid_Cap... view
CCNT1 12 49110598 49110598 HT1080_SOFT_TIS... 37 5'UTR SNP C T uc001rse.1 CCNT1_uc009zkz.... Hybrid_Cap... view
CCR5 p.L39V 3 46414508 46414508 HT1080_SOFT_TIS... 37 Missense_Mutation SNP C G uc003cpo.3 CCR5_uc010hjd.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 HT1080_SOFT_TIS... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 HT1080_SOFT_TIS... 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 HT1080_SOFT_TIS... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 HT1080_SOFT_TIS... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CXCL12 10 44868594 44868594 HT1080_SOFT_TIS... 37 3'UTR SNP A G uc001jbf.2 Hybrid_Cap... view
CXCL12 10 44873992 44873993 HT1080_SOFT_TIS... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
EDN1 6 12290729 12290729 HT1080_SOFT_TIS... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EPHA6 3 97367230 97367231 HT1080_SOFT_TIS... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERCC5 p.V962F 13 103515021 103515021 HT1080_SOFT_TIS... 37 Missense_Mutation SNP G T uc001vpu.1 ERCC5_uc010tjb.... Hybrid_Cap... view
ETV1 7 14028708 14028708 HT1080_SOFT_TIS... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCC 9 97863893 97863893 HT1080_SOFT_TIS... 37 3'UTR SNP T C rs55687573 uc004avh.2 Hybrid_Cap... view
FASN 17 80036961 80036961 HT1080_SOFT_TIS... 37 3'UTR SNP G C uc002kdu.2 FASN_uc002kdv.1... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 HT1080_SOFT_TIS... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 HT1080_SOFT_TIS... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 HT1080_SOFT_TIS... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 HT1080_SOFT_TIS... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 HT1080_SOFT_TIS... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FZD1 p.F556S 7 90895862 90895862 HT1080_SOFT_TIS... 37 Missense_Mutation SNP T C uc003ula.2 Hybrid_Cap... view
GRIA3 X 122318386 122318387 HT1080_SOFT_TIS... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 HT1080_SOFT_TIS... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HECW1 7 43601629 43601629 HT1080_SOFT_TIS... 37 3'UTR SNP T C uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 HT1080_SOFT_TIS... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HOXD13 p.A174T 2 176958138 176958138 HT1080_SOFT_TIS... 37 Missense_Mutation SNP G A uc002ukf.1 Hybrid_Cap... view
IDH1 p.R132C 2 209113113 209113113 HT1080_SOFT_TIS... 37 Missense_Mutation SNP G A uc002vcs.2 IDH1_uc002vct.2... Hybrid_Cap... view
ILK 11 6630029 6630029 HT1080_SOFT_TIS... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 HT1080_SOFT_TIS... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 HT1080_SOFT_TIS... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LMNB2 p.T556M 19 2431824 2431824 HT1080_SOFT_TIS... 37 Missense_Mutation SNP G A uc002lwa.1 LMNB2_uc010dtc.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 HT1080_SOFT_TIS... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 HT1080_SOFT_TIS... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 HT1080_SOFT_TIS... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 HT1080_SOFT_TIS... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 HT1080_SOFT_TIS... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 HT1080_SOFT_TIS... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
NCAM1 11 112832307 112832308 HT1080_SOFT_TIS... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HT1080_SOFT_TIS... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 HT1080_SOFT_TIS... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 HT1080_SOFT_TIS... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 HT1080_SOFT_TIS... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRAS p.Q61K 1 115256530 115256530 HT1080_SOFT_TIS... 37 Missense_Mutation SNP G T uc009wgu.2 Hybrid_Cap... view
OR2L13 p.G218C 1 248263329 248263329 HT1080_SOFT_TIS... 37 Missense_Mutation SNP G T uc001ids.2 Hybrid_Cap... view
PAX5 9 37034092 37034095 HT1080_SOFT_TIS... 37 5'UTR Del TTTC - uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap...
PLCG2 16 81954996 81954997 HT1080_SOFT_TIS... 37 Intron Ins - T uc002fgt.2 PLCG2_uc010chg.... Hybrid_Cap...
PREX2 8 69143775 69143775 HT1080_SOFT_TIS... 37 3'UTR SNP T C uc003xxv.1 Hybrid_Cap... view
PRKCA 17 64298959 64298960 HT1080_SOFT_TIS... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 HT1080_SOFT_TIS... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAC1 p.N111I 7 6439806 6439806 HT1080_SOFT_TIS... 37 Missense_Mutation SNP A T uc003spw.2 RAC1_uc003spx.2... Hybrid_Cap... view
RASGRF1 15 79277150 79277151 HT1080_SOFT_TIS... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 HT1080_SOFT_TIS... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RICTOR p.S1127fs 5 38950568 38950569 HT1080_SOFT_TIS... 37 Frame_Shift_Ins Ins - G uc003jlo.2 RICTOR_uc003jlp... Hybrid_Cap...
ROCK1 18 18531242 18531243 HT1080_SOFT_TIS... 37 3'UTR DNP GA TG uc002kte.2 Hybrid_Cap...
SLC6A8 X 152957656 152957657 HT1080_SOFT_TIS... 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
STK31 7 23872024 23872025 HT1080_SOFT_TIS... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TLK1 2 171850178 171850179 HT1080_SOFT_TIS... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 HT1080_SOFT_TIS... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNFRSF10B p.G250_splice 8 22885843 22885843 HT1080_SOFT_TIS... 37 Splice_Site_SNP SNP C T rs41308110 uc003xcu.2 TNFRSF10B_uc003... Hybrid_Cap... view
TP63 3 189507518 189507519 HT1080_SOFT_TIS... 37 Intron Ins - AG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TPR p.V1455_splice 1 186306290 186306290 HT1080_SOFT_TIS... 37 Splice_Site_SNP SNP T A uc001grv.2 Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 HT1080_SOFT_TIS... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN 2 179391639 179391640 HT1080_SOFT_TIS... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 HT1080_SOFT_TIS... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WIF1 p.V133_splice 12 65462686 65462686 HT1080_SOFT_TIS... 37 Splice_Site_SNP SNP T A uc001ssk.2 Hybrid_Cap... view
WRN p.N166K 8 30922573 30922573 HT1080_SOFT_TIS... 37 Missense_Mutation SNP T A uc003xio.3 Hybrid_Cap... view