Annotation Summary for Cell Line: HCC2218  

Cell line primary name: HCC2218
Cell line aliases:
Gender: F
Site Primary: breast
Histology: carcinoma
Hist Subtype1: ductal_carcinoma
Notes:
Source: ATCC
Expression arrays: BUNDS_p_NCLE_RNA5_HG-U133_Plus_2_B03_419876
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_A05_437578
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HCC2218

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 HCC2218_BREAST 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA 17 35479680 35479680 HCC2218_BREAST 37 Intron SNP T C uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 HCC2218_BREAST 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 HCC2218_BREAST 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 HCC2218_BREAST 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 HCC2218_BREAST 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 HCC2218_BREAST 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ARNT 1 150784405 150784405 HCC2218_BREAST 37 3'UTR SNP G A uc001evr.1 ARNT_uc010pck.1... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 HCC2218_BREAST 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
BCL11A p.S142F 2 60695929 60695929 HCC2218_BREAST 37 Missense_Mutation SNP G A uc002sae.1 BCL11A_uc002sab... Hybrid_Cap... view
BCL3 19 45262965 45262965 HCC2218_BREAST 37 3'UTR Del C - uc010xxe.1 Hybrid_Cap...
BCR 22 23631813 23631814 HCC2218_BREAST 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIRC6 p.K4503N 2 32820108 32820108 HCC2218_BREAST 37 Missense_Mutation SNP A C uc010ezu.2 Hybrid_Cap... view
BLNK 10 97951715 97951715 HCC2218_BREAST 37 3'UTR Del T - uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap...
BTG1 12 92537706 92537707 HCC2218_BREAST 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CABC1 1 227171585 227171585 HCC2218_BREAST 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CABC1 1 227174484 227174484 HCC2218_BREAST 37 3'UTR SNP C G uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap... view
CACNB2 10 18828721 18828722 HCC2218_BREAST 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CBL 11 119170665 119170666 HCC2218_BREAST 37 3'UTR DNP AG CC uc001pwe.2 Hybrid_Cap...
CDK11A p.D540N 1 1635730 1635730 HCC2218_BREAST 37 Missense_Mutation SNP C T uc009vks.2 CDK11B_uc001ags... Hybrid_Cap... view
CDK11B 1 1654066 1654068 HCC2218_BREAST 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK20 p.P229L 9 90584712 90584712 HCC2218_BREAST 37 Missense_Mutation SNP G A uc004apr.2 CDK20_uc004aps.... Hybrid_Cap... view
CDKL2 p.S551* 4 76507104 76507104 HCC2218_BREAST 37 Nonsense_Mutation SNP G C uc011cbp.1 CDKL2_uc003hiq.... Hybrid_Cap... view
CIC p.E104K 19 42791250 42791250 HCC2218_BREAST 37 Missense_Mutation SNP G A uc002otf.1 Hybrid_Cap... view
CLTC p.F278L 17 57733241 57733241 HCC2218_BREAST 37 Missense_Mutation SNP C G uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap... view
CLTC p.S948C 17 57756792 57756792 HCC2218_BREAST 37 Missense_Mutation SNP C G uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 HCC2218_BREAST 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 p.E124K 22 19241631 19241631 HCC2218_BREAST 37 Missense_Mutation SNP C T uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CNTN6 3 1339681 1339686 HCC2218_BREAST 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
COL14A1 p.D1171N 8 121292203 121292203 HCC2218_BREAST 37 Missense_Mutation SNP G A uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL1A1 17 48262859 48262859 HCC2218_BREAST 37 3'UTR SNP G A uc002iqm.2 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 HCC2218_BREAST 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSNK1D p.S97C 17 80213351 80213351 HCC2218_BREAST 37 Missense_Mutation SNP G C uc002kef.2 SLC16A3_uc002ke... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 HCC2218_BREAST 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CTNNA2 p.D641E 2 80808860 80808860 HCC2218_BREAST 37 Missense_Mutation SNP C A uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CUBN 10 16949748 16949748 HCC2218_BREAST 37 Intron SNP T A uc001ioo.2 CUBN_uc009xjq.1... Hybrid_Cap... view
CXCL12 10 44873992 44873993 HCC2218_BREAST 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DPYD p.T983I 1 97544662 97544662 HCC2218_BREAST 37 Missense_Mutation SNP G A rs61757362 uc001drv.2 Hybrid_Cap... view
DYRK1A 21 38884966 38884967 HCC2218_BREAST 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EGFR 7 55238316 55238316 HCC2218_BREAST 37 Intron SNP G C uc003tqk.2 EGFR_uc003tqj.2... Hybrid_Cap... view
EIF4B p.G25R 12 53410316 53410316 HCC2218_BREAST 37 Missense_Mutation SNP G A uc010snu.1 EIF4B_uc009zmp.... Hybrid_Cap... view
EIF4B p.D324N 12 53421963 53421963 HCC2218_BREAST 37 Missense_Mutation SNP G A uc010snu.1 EIF4B_uc001sbh.... Hybrid_Cap... view
EIF4E 4 99808137 99808141 HCC2218_BREAST 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EP300 p.P888S 22 41546047 41546047 HCC2218_BREAST 37 Missense_Mutation SNP C T rs61757374 uc003azl.3 Hybrid_Cap... view
EPHA10 p.R774H 1 38186114 38186114 HCC2218_BREAST 37 Missense_Mutation SNP C T uc009vvi.2 EPHA10_uc001cbt... Hybrid_Cap... view
EPHA5 4 66189753 66189754 HCC2218_BREAST 37 3'UTR Ins - T rs67487372 uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap...
EPHA6 3 97367230 97367231 HCC2218_BREAST 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERCC6 p.E1119L 10 50678650 50678651 HCC2218_BREAST 37 Missense_Mutation DNP TC AG uc001jhs.3 ERCC6_uc009xod.... Hybrid_Cap...
ERCC6 p.R1038T 10 50678893 50678893 HCC2218_BREAST 37 Missense_Mutation SNP C G uc001jhs.3 ERCC6_uc009xod.... Hybrid_Cap... view
ETV1 7 14028708 14028708 HCC2218_BREAST 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCA 16 89865404 89865404 HCC2218_BREAST 37 Intron SNP C T rs45494792 uc002fou.1 FANCA_uc010vpn.... Hybrid_Cap... view
FLI1 11 128638217 128638217 HCC2218_BREAST 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 HCC2218_BREAST 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FSCB p.Q210H 14 44975561 44975561 HCC2218_BREAST 37 Missense_Mutation SNP C A uc001wvn.2 Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 HCC2218_BREAST 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 HCC2218_BREAST 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 HCC2218_BREAST 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 HCC2218_BREAST 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90AA1 14 102549266 102549267 HCC2218_BREAST 37 Intron Ins - A uc001ykv.3 HSP90AA1_uc001y... Hybrid_Cap...
HSP90AA1 p.S75T 14 102568355 102568355 HCC2218_BREAST 37 Missense_Mutation SNP A T uc001ykv.3 Hybrid_Cap... view
HSPA1B p.S579* 6 31797463 31797463 HCC2218_BREAST 37 Nonsense_Mutation SNP C A uc003nxk.2 Hybrid_Cap... view
ILK 11 6630029 6630029 HCC2218_BREAST 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
KLK7 19 51480672 51480675 HCC2218_BREAST 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KPNA5 p.F48L 6 117013223 117013223 HCC2218_BREAST 37 Missense_Mutation SNP C G uc003pxh.2 Hybrid_Cap... view
LRP2 p.E4072K 2 170011051 170011051 HCC2218_BREAST 37 Missense_Mutation SNP C T uc002ues.2 Hybrid_Cap... view
MAF 16 79628537 79628537 HCC2218_BREAST 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 HCC2218_BREAST 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 HCC2218_BREAST 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 HCC2218_BREAST 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MCM3APAS 21 47671275 47671276 HCC2218_BREAST 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MET p.D1028_splice 7 116414934 116414934 HCC2218_BREAST 37 Splice_Site_SNP SNP G T uc010lkh.2 MET_uc003vij.2_... Hybrid_Cap... view
MRE11A p.H302Y 11 94203750 94203750 HCC2218_BREAST 37 Missense_Mutation SNP G A uc001peu.2 MRE11A_uc001pev... Hybrid_Cap... view
MSH2 p.E467K 2 47690182 47690182 HCC2218_BREAST 37 Missense_Mutation SNP G A uc002rvz.2 MSH2_uc010yoh.1... Hybrid_Cap... view
MYLK4 p.E30Q 6 2749441 2749441 HCC2218_BREAST 37 Missense_Mutation SNP C G uc003mty.3 Hybrid_Cap... view
N4BP2 p.P283A 4 40104312 40104312 HCC2218_BREAST 37 Missense_Mutation SNP C G uc003guy.3 N4BP2_uc010ifq.... Hybrid_Cap... view
NAV3 p.E1577K 12 78542643 78542643 HCC2218_BREAST 37 Missense_Mutation SNP G A uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 HCC2218_BREAST 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HCC2218_BREAST 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NFIA 1 61921185 61921186 HCC2218_BREAST 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NFKB1 p.M14_splice 4 103450992 103450992 HCC2218_BREAST 37 Splice_Site_SNP SNP G A uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap... view
NPM1 5 170837734 170837734 HCC2218_BREAST 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 HCC2218_BREAST 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 HCC2218_BREAST 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP133 p.G448R 1 229623213 229623213 HCC2218_BREAST 37 Missense_Mutation SNP C T uc001htn.2 Hybrid_Cap... view
PAX3 2 223158653 223158653 HCC2218_BREAST 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDK4 7 95221928 95221928 HCC2218_BREAST 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 HCC2218_BREAST 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKN1 p.F879L 19 14581657 14581657 HCC2218_BREAST 37 Missense_Mutation SNP C G rs1126937 uc002myq.2 PKN1_uc002myp.2... Hybrid_Cap... view
PLCG1 p.A995P 20 39801138 39801138 HCC2218_BREAST 37 Missense_Mutation SNP G C uc002xjo.1 PLCG1_uc002xjp.... Hybrid_Cap... view
PLK2 5 57755014 57755014 HCC2218_BREAST 37 Intron Del A - uc003jrn.2 PLK2_uc011cql.1... Hybrid_Cap...
PPM1E p.S233L 17 57043169 57043169 HCC2218_BREAST 37 Missense_Mutation SNP C T uc002iwx.2 PPM1E_uc010ddd.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 HCC2218_BREAST 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRPF4B p.F658L 6 4049288 4049288 HCC2218_BREAST 37 Missense_Mutation SNP C G uc003mvv.2 PRPF4B_uc003mvw... Hybrid_Cap... view
RASGRF2 p.D538N 5 80390175 80390175 HCC2218_BREAST 37 Missense_Mutation SNP G A uc003kha.1 RASGRF2_uc011ct... Hybrid_Cap... view
RHOA 3 49397615 49397615 HCC2218_BREAST 37 3'UTR SNP C T uc003cwu.2 RHOA_uc010hku.2... Hybrid_Cap... view
RIF1 p.E1784K 2 152321384 152321384 HCC2218_BREAST 37 Missense_Mutation SNP G A uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap... view
RIF1 p.D1955H 2 152321897 152321897 HCC2218_BREAST 37 Missense_Mutation SNP G C uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap... view
RPGRIP1 p.Q644E 14 21792944 21792944 HCC2218_BREAST 37 Missense_Mutation SNP C G uc001wag.2 RPGRIP1_uc001wa... Hybrid_Cap... view
RPS6KA4 p.S236L 11 64129169 64129169 HCC2218_BREAST 37 Missense_Mutation SNP C T uc001oae.2 RPS6KA4_uc001oa... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 HCC2218_BREAST 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 HCC2218_BREAST 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SEPT9 17 75494787 75494788 HCC2218_BREAST 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
SMAD7 18 46447624 46447624 HCC2218_BREAST 37 3'UTR Del A - uc002ldg.2 SMAD7_uc002ldf.... Hybrid_Cap...
SP110 2 231041275 231041275 HCC2218_BREAST 37 Intron SNP A G rs41309110 uc002vqg.3 SP110_uc002vqh.... Hybrid_Cap... view
STK31 7 23872024 23872025 HCC2218_BREAST 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEK p.K117N 9 27158127 27158127 HCC2218_BREAST 37 Missense_Mutation SNP G C uc003zqi.3 TEK_uc010mjc.1_... Hybrid_Cap... view
TGFB2 1 218519928 218519929 HCC2218_BREAST 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TGS1 p.A257G 8 56699227 56699227 HCC2218_BREAST 37 Missense_Mutation SNP C G uc003xsj.3 TGS1_uc010lyh.2... Hybrid_Cap... view
TLK1 2 171850178 171850179 HCC2218_BREAST 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 HCC2218_BREAST 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNFRSF1B p.S370F 1 12266800 12266800 HCC2218_BREAST 37 Missense_Mutation SNP C T rs75299314 uc001att.2 TNFRSF1B_uc001a... Hybrid_Cap... view
TP63 3 189507518 189507519 HCC2218_BREAST 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940215 114940216 HCC2218_BREAST 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TSHR 14 81575126 81575126 HCC2218_BREAST 37 Intron SNP A G uc001xvd.1 TSHR_uc001xvc.2... Hybrid_Cap... view
UBE2O p.E458K 17 74395786 74395786 HCC2218_BREAST 37 Missense_Mutation SNP C T uc002jrm.3 UBE2O_uc002jrn.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 HCC2218_BREAST 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...