Annotation Summary for Cell Line: SK-HEP-1  

Cell line primary name: SK-HEP-1
Cell line aliases:
Gender: M
Site Primary: liver
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: ATCC
Expression arrays: CRAZY_p_NCLE_RNA10_HG-U133_Plus_2_G06_569542
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_F01_256122
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SK-HEP-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 SKHEP1_LIVER 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCA3 16 2339406 2339406 SKHEP1_LIVER 37 Intron SNP G A uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ACACA 17 35766564 35766564 SKHEP1_LIVER 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM10 p.S521P 15 58904141 58904141 SKHEP1_LIVER 37 Missense_Mutation SNP A G uc002afd.1 ADAM10_uc010bgc... Hybrid_Cap... view
ADAM17 2 9630245 9630245 SKHEP1_LIVER 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SKHEP1_LIVER 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 SKHEP1_LIVER 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 SKHEP1_LIVER 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ARHGEF7 13 111935482 111935482 SKHEP1_LIVER 37 Intron SNP G A uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap... view
BCR 22 23631813 23631814 SKHEP1_LIVER 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 SKHEP1_LIVER 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BRAF p.V600E 7 140453136 140453136 SKHEP1_LIVER 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
CABC1 1 227171585 227171585 SKHEP1_LIVER 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CDK11B 1 1654066 1654068 SKHEP1_LIVER 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SKHEP1_LIVER 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 SKHEP1_LIVER 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CYLD 16 50830478 50830478 SKHEP1_LIVER 37 3'UTR SNP T C uc002egp.1 CYLD_uc002egq.1... Hybrid_Cap... view
DACH1 13 72014625 72014626 SKHEP1_LIVER 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DTX1 p.I129M 12 113515356 113515356 SKHEP1_LIVER 37 Missense_Mutation SNP C G uc001tuk.1 Hybrid_Cap... view
EDN1 6 12290729 12290729 SKHEP1_LIVER 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EGF p.S16T 4 110834538 110834538 SKHEP1_LIVER 37 Missense_Mutation SNP G C uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap... view
EPHA6 3 97367230 97367231 SKHEP1_LIVER 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 SKHEP1_LIVER 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 SKHEP1_LIVER 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 SKHEP1_LIVER 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 SKHEP1_LIVER 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 SKHEP1_LIVER 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 SKHEP1_LIVER 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SKHEP1_LIVER 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SKHEP1_LIVER 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 SKHEP1_LIVER 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HLF 17 53342796 53342797 SKHEP1_LIVER 37 5'UTR Ins - TTTC rs34863783 uc002iug.1 HLF_uc010dce.1_... Hybrid_Cap...
HNF1A 12 121434630 121434631 SKHEP1_LIVER 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 SKHEP1_LIVER 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IL6ST p.K76E 5 55265522 55265522 SKHEP1_LIVER 37 Missense_Mutation SNP T C uc003jqq.2 IL6ST_uc010iwb.... Hybrid_Cap... view
ILK 11 6630029 6630029 SKHEP1_LIVER 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SKHEP1_LIVER 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 SKHEP1_LIVER 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS1 p.R995H 6 149983274 149983274 SKHEP1_LIVER 37 Missense_Mutation SNP C T uc003qmu.1 LATS1_uc010kif.... Hybrid_Cap... view
LEMD1 p.D66E 1 205388365 205388365 SKHEP1_LIVER 37 Missense_Mutation SNP G T uc001hci.1 LEMD1_uc001hcj.... Hybrid_Cap... view
LRP1B p.S1910T 2 141526812 141526812 SKHEP1_LIVER 37 Missense_Mutation SNP A T uc002tvj.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SKHEP1_LIVER 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 SKHEP1_LIVER 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SKHEP1_LIVER 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SKHEP1_LIVER 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK8IP2 p.N87S 22 51041740 51041740 SKHEP1_LIVER 37 Missense_Mutation SNP A G uc003bmx.2 MAPK8IP2_uc003b... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 SKHEP1_LIVER 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MCM3AP p.V1710L 21 47663547 47663547 SKHEP1_LIVER 37 Missense_Mutation SNP C G uc002zir.1 MCM3APAS_uc002z... Hybrid_Cap... view
MSH2 p.G315V 2 47643436 47643436 SKHEP1_LIVER 37 Missense_Mutation SNP G T uc002rvz.2 MSH2_uc010yoh.1... Hybrid_Cap... view
MYLK p.E1430_splice 3 123368043 123368044 SKHEP1_LIVER 37 Splice_Site_Ins Ins - G rs41431347 uc003ego.2 MYLK_uc010hrr.2... Hybrid_Cap...
MYO3A p.N902T 10 26442848 26442848 SKHEP1_LIVER 37 Missense_Mutation SNP A C uc001isn.2 MYO3A_uc009xko.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SKHEP1_LIVER 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKHEP1_LIVER 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 SKHEP1_LIVER 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NF2 p.I264V 22 30057308 30057308 SKHEP1_LIVER 37 Missense_Mutation SNP A G uc003age.3 NF2_uc003afy.3_... Hybrid_Cap... view
NOVA1 14 26939584 26939584 SKHEP1_LIVER 37 Intron SNP C T uc001wpy.2 NOVA1_uc001wpz.... Hybrid_Cap... view
NPR1 1 153665919 153665920 SKHEP1_LIVER 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SKHEP1_LIVER 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OR4E2 p.L237V 14 22134005 22134005 SKHEP1_LIVER 37 Missense_Mutation SNP C G uc010tmd.1 Hybrid_Cap... view
PDGFRA 4 55131002 55131002 SKHEP1_LIVER 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PGR 11 100933598 100933599 SKHEP1_LIVER 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PHKG2 16 30763046 30763047 SKHEP1_LIVER 37 Intron Ins - T uc002dzi.1 PHKG2_uc002dzj.... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 SKHEP1_LIVER 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 SKHEP1_LIVER 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PRAME 22 22899323 22899323 SKHEP1_LIVER 37 De_novo_Start_OutOfFrame SNP C T uc002zwf.2 LOC96610_uc011a... Hybrid_Cap... view
PRKCA 17 64298959 64298960 SKHEP1_LIVER 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 SKHEP1_LIVER 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSEN1 14 73640582 73640583 SKHEP1_LIVER 37 Intron Ins - AAAGG uc001xnr.2 PSEN1_uc001xnv.... Hybrid_Cap...
RIOK1 p.V378A 6 7405518 7405518 SKHEP1_LIVER 37 Missense_Mutation SNP T C rs35282481 uc003mxn.2 RIOK1_uc003mxo.... Hybrid_Cap... view
ROBO1 p.G904E 3 78700983 78700983 SKHEP1_LIVER 37 Missense_Mutation SNP C T uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
ROBO1 p.P880R 3 78701055 78701055 SKHEP1_LIVER 37 Missense_Mutation SNP G C uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
RPS6KB1 17 58024224 58024225 SKHEP1_LIVER 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
SACS p.G325R 13 23929778 23929778 SKHEP1_LIVER 37 Missense_Mutation SNP C T uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SLCO4A1 20 61303406 61303407 SKHEP1_LIVER 37 3'UTR Ins - T uc002ydb.1 SLCO4A1_uc002yd... Hybrid_Cap...
SMARCA4 p.E1614* 19 11170537 11170537 SKHEP1_LIVER 37 Nonsense_Mutation SNP G T uc010dxo.2 SMARCA4_uc002mq... Hybrid_Cap... view
STAT5A 17 40462797 40462800 SKHEP1_LIVER 37 3'UTR Del TGTG - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
STK31 7 23872024 23872025 SKHEP1_LIVER 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STRADA 17 61781331 61781332 SKHEP1_LIVER 37 Intron Ins - AGAACC rs66701913 uc002jbm.2 STRADA_uc002jbn... Hybrid_Cap...
TFDP1 p.D397D 13 114294540 114294540 SKHEP1_LIVER 37 Silent SNP C T uc001vtw.2 TFDP1_uc010tkd.... Hybrid_Cap... view
TLK1 2 171850178 171850179 SKHEP1_LIVER 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 SKHEP1_LIVER 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 SKHEP1_LIVER 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP63 3 189507518 189507519 SKHEP1_LIVER 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940215 114940216 SKHEP1_LIVER 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TTN p.D32077N 2 179397409 179397409 SKHEP1_LIVER 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.I19738T 2 179445189 179445189 SKHEP1_LIVER 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E14250K 2 179476584 179476584 SKHEP1_LIVER 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.D11905H 2 179497316 179497316 SKHEP1_LIVER 37 Missense_Mutation SNP C G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBE3B 12 109947357 109947358 SKHEP1_LIVER 37 Intron Ins - T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 SKHEP1_LIVER 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VRK2 p.N211S 2 58350324 58350324 SKHEP1_LIVER 37 Missense_Mutation SNP A G rs36081172 uc002rzo.2 VRK2_uc010fcb.2... Hybrid_Cap... view
YES1 p.G91R 18 756557 756557 SKHEP1_LIVER 37 Missense_Mutation SNP C G uc002kky.2 YES1_uc002kkz.2... Hybrid_Cap... view
ZMYND10 3 50378770 50378770 SKHEP1_LIVER 37 3'UTR SNP C T uc003dag.1 RASSF1_uc003dad... Hybrid_Cap... view
ZMYND10 p.R340W 3 50379344 50379344 SKHEP1_LIVER 37 Missense_Mutation SNP G A uc003dag.1 RASSF1_uc003dad... Hybrid_Cap... view