Annotation Summary for Cell Line: UACC-812  

Cell line primary name: UACC-812
Cell line aliases:
Gender: F
Site Primary: breast
Histology: carcinoma
Hist Subtype1: ductal_carcinoma
Notes:
Source: ATCC
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_C01_523502
SNP arrays: BOWER_p_NCLE_DNAAffy8_GenomeWideSNP_6_F03_464690
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in UACC-812

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABCA3 p.G178S 16 2373605 2373605 UACC812_BREAST 37 Missense_Mutation SNP C T uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ADAM28 8 24211994 24211997 UACC812_BREAST 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 UACC812_BREAST 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 UACC812_BREAST 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKAP9 p.K1762E 7 91674443 91674443 UACC812_BREAST 37 Missense_Mutation SNP A G uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
ALPK1 4 113347609 113347610 UACC812_BREAST 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ANKK1 p.P148L 11 113264460 113264460 UACC812_BREAST 37 Missense_Mutation SNP C T uc001pny.2 Hybrid_Cap... view
AR X 66764978 66764978 UACC812_BREAST 37 5'UTR SNP C T uc004dwu.1 AR_uc011mpd.1_5... Hybrid_Cap... view
BMP4 p.R286Q 14 54417120 54417120 UACC812_BREAST 37 Missense_Mutation SNP C T uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap... view
BRD4 p.T573K 19 15366908 15366908 UACC812_BREAST 37 Missense_Mutation SNP G T uc002nar.2 BRD4_uc002nas.2... Hybrid_Cap... view
CCR5 p.V131F 3 46414784 46414784 UACC812_BREAST 37 Missense_Mutation SNP G T rs34418657 uc003cpo.3 CCR5_uc010hjd.2... Hybrid_Cap... view
CDH1 p.T522I 16 68849662 68849662 UACC812_BREAST 37 Missense_Mutation SNP C T uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap... view
CHEK2 p.L346* 22 29099493 29099493 UACC812_BREAST 37 Nonsense_Mutation SNP A T uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 UACC812_BREAST 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CSMD3 p.P419A 8 113988153 113988153 UACC812_BREAST 37 Missense_Mutation SNP G C uc003ynu.2 CSMD3_uc003ynt.... Hybrid_Cap... view
CYP1A2 p.A502T 15 75047382 75047382 UACC812_BREAST 37 Missense_Mutation SNP G A uc002ayr.1 Hybrid_Cap... view
DACH1 13 72014625 72014626 UACC812_BREAST 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DAXX 6 33289474 33289474 UACC812_BREAST 37 Intron SNP A T uc011dre.1 DAXX_uc011drd.1... Hybrid_Cap... view
DLC1 8 12943085 12943086 UACC812_BREAST 37 3'UTR Ins - T rs60094700 uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap...
DNAH8 6 38952246 38952247 UACC812_BREAST 37 Intron Ins - CA rs34819199 uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
ERCC2 p.E748K 19 45854928 45854928 UACC812_BREAST 37 Missense_Mutation SNP C T uc002pbj.2 ERCC2_uc002pbh.... Hybrid_Cap... view
ETV1 7 14028708 14028708 UACC812_BREAST 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 UACC812_BREAST 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 UACC812_BREAST 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 UACC812_BREAST 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 UACC812_BREAST 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPHN p.I53V 14 67243195 67243195 UACC812_BREAST 37 Missense_Mutation SNP A G uc010tss.1 GPHN_uc001xiw.2... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 UACC812_BREAST 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 UACC812_BREAST 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 UACC812_BREAST 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 UACC812_BREAST 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 UACC812_BREAST 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.L729S 12 104340643 104340643 UACC812_BREAST 37 Missense_Mutation SNP T C uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap... view
ILK 11 6630029 6630029 UACC812_BREAST 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSRR p.V179M 1 156823646 156823646 UACC812_BREAST 37 Missense_Mutation SNP C T uc010pht.1 NTRK1_uc001fqf.... Hybrid_Cap... view
ITGAV p.V929A 2 187540410 187540410 UACC812_BREAST 37 Missense_Mutation SNP T C uc002upq.2 ITGAV_uc010frs.... Hybrid_Cap... view
ITGB1 10 33197131 33197134 UACC812_BREAST 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 UACC812_BREAST 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 UACC812_BREAST 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KSR1 p.G121S 17 25909923 25909923 UACC812_BREAST 37 Missense_Mutation SNP G A uc010crg.2 KSR1_uc002gzj.1... Hybrid_Cap... view
LRP1B p.R1871C 2 141528465 141528465 UACC812_BREAST 37 Missense_Mutation SNP G A uc002tvj.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 UACC812_BREAST 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 UACC812_BREAST 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 UACC812_BREAST 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK8 p.V223A 10 49632608 49632608 UACC812_BREAST 37 Missense_Mutation SNP T C uc009xnz.2 MAPK8_uc001jgl.... Hybrid_Cap... view
MARK1 1 220754562 220754562 UACC812_BREAST 37 Intron SNP A G uc009xdw.2 MARK1_uc001hml.... Hybrid_Cap... view
MEF2A p.Q430del 15 100252710 100252712 UACC812_BREAST 37 In_Frame_Del Del CAG - uc010urw.1 MEF2A_uc010urv.... Hybrid_Cap...
MGA p.H2683R 15 42058328 42058328 UACC812_BREAST 37 Missense_Mutation SNP A G uc010ucy.1 MGA_uc010ucz.1_... Hybrid_Cap... view
MLKL p.C24S 16 74729586 74729586 UACC812_BREAST 37 Missense_Mutation SNP A T uc002fdb.2 MLKL_uc002fdc.2... Hybrid_Cap... view
MN1 p.544_546QQQ>Q 22 28194895 28194900 UACC812_BREAST 37 In_Frame_Del Del TGCTG... - rs75719175 uc003adj.2 Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 UACC812_BREAST 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MST1R p.Y44* 3 49940911 49940911 UACC812_BREAST 37 Nonsense_Mutation SNP G C uc003cxy.3 MST1R_uc011bdd.... Hybrid_Cap... view
MYH1 p.N553fs 17 10411917 10411918 UACC812_BREAST 37 Frame_Shift_Del Del TG - uc002gmo.2 Hybrid_Cap...
MYH9 p.P332L 22 36716282 36716282 UACC812_BREAST 37 Missense_Mutation SNP G A uc003apg.2 MYH9_uc003aph.1... Hybrid_Cap... view
MYO3A p.V1351I 10 26463244 26463244 UACC812_BREAST 37 Missense_Mutation SNP G A uc001isn.2 MYO3A_uc009xkp.... Hybrid_Cap... view
NAV3 p.M221I 12 78362474 78362474 UACC812_BREAST 37 Missense_Mutation SNP G T uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NAV3 p.P1264H 12 78515761 78515761 UACC812_BREAST 37 Missense_Mutation SNP C A uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 UACC812_BREAST 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 UACC812_BREAST 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 UACC812_BREAST 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 9 134067556 134067557 UACC812_BREAST 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
ODZ1 p.P235S X 123870880 123870880 UACC812_BREAST 37 Missense_Mutation SNP G A uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
OR4E2 p.G204E 14 22133907 22133907 UACC812_BREAST 37 Missense_Mutation SNP G A uc010tmd.1 Hybrid_Cap... view
PDE4DIP 1 144863059 144863059 UACC812_BREAST 37 Intron SNP C T rs74579974 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDE4DIP p.L601fs 1 144915624 144915624 UACC812_BREAST 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 UACC812_BREAST 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGR 11 100933598 100933599 UACC812_BREAST 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PI4KA p.M109I 22 21174855 21174855 UACC812_BREAST 37 Missense_Mutation SNP C A uc002zsz.3 PI4KA_uc010gsq.... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 UACC812_BREAST 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PLEKHA5 p.P1044R 12 19511169 19511169 UACC812_BREAST 37 Missense_Mutation SNP C G uc010sie.1 PLEKHA5_uc001re... Hybrid_Cap... view
PLK3 p.K218_splice 1 45267606 45267612 UACC812_BREAST 37 Splice_Site_Del Del TGAGT... - uc001cmn.2 PLK3_uc001cmo.2... Hybrid_Cap...
PNCK X 152938180 152938183 UACC812_BREAST 37 Intron Del GGAA - uc011myu.1 PNCK_uc011myt.1... Hybrid_Cap...
PRKCQ p.D566E 10 6498684 6498684 UACC812_BREAST 37 Missense_Mutation SNP A C uc001iji.1 PRKCQ_uc009xim.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 UACC812_BREAST 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSMA4 15 78834015 78834016 UACC812_BREAST 37 Intron Ins - C uc002bdu.3 PSMA4_uc010blf.... Hybrid_Cap...
RASGRF1 15 79277150 79277151 UACC812_BREAST 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RBPJ p.R238* 4 26426291 26426291 UACC812_BREAST 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
SHC1 1 154936221 154936221 UACC812_BREAST 37 3'UTR SNP T G uc001ffw.2 PYGO2_uc001fft.... Hybrid_Cap... view
SKIL p.G337R 3 170079128 170079128 UACC812_BREAST 37 Missense_Mutation SNP G A uc003fgu.2 SKIL_uc011bps.1... Hybrid_Cap... view
SLC45A3 p.222_234ALGPTEPAEGLSA>A 1 205632218 205632253 UACC812_BREAST 37 In_Frame_Del Del GCCGA... - uc001hda.1 SLC45A3_uc010pr... Hybrid_Cap...
SMG1 p.S1497* 16 18865183 18865183 UACC812_BREAST 37 Nonsense_Mutation SNP G C uc002dfm.2 SMG1_uc010bwb.2... Hybrid_Cap... view
SP140 p.W507C 2 231149083 231149083 UACC812_BREAST 37 Missense_Mutation SNP G C uc002vql.2 SP140_uc010zma.... Hybrid_Cap... view
SRMS p.G24S 20 62178747 62178747 UACC812_BREAST 37 Missense_Mutation SNP C T uc002yfi.1 Hybrid_Cap... view
SSU72 1 1477324 1477325 UACC812_BREAST 37 3'UTR Del CA - rs72502747 uc001agd.2 C1orf70_uc009vk... Hybrid_Cap...
STAT5A 17 40462797 40462798 UACC812_BREAST 37 3'UTR Del TG - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
STK25 2 242435659 242435662 UACC812_BREAST 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 UACC812_BREAST 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STRN4 p.N483Y 19 47228635 47228635 UACC812_BREAST 37 Missense_Mutation SNP T A uc002pfm.2 STRN4_uc002pfl.... Hybrid_Cap... view
TG p.E1324K 8 133920553 133920553 UACC812_BREAST 37 Missense_Mutation SNP G A uc003ytw.2 TG_uc010mdw.2_M... Hybrid_Cap... view
TMEM123 11 102269398 102269398 UACC812_BREAST 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNN p.C33Y 1 175046652 175046652 UACC812_BREAST 37 Missense_Mutation SNP G A uc001gkl.1 TNN_uc010pmx.1_... Hybrid_Cap... view
TRIM33 1 114940211 114940212 UACC812_BREAST 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRIO p.Y1238H 5 14387688 14387688 UACC812_BREAST 37 Missense_Mutation SNP T C uc003jff.2 TRIO_uc003jfg.2... Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 UACC812_BREAST 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN 2 179391639 179391640 UACC812_BREAST 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.R7112C 2 179582535 179582535 UACC812_BREAST 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R3785Q 2 179599565 179599565 UACC812_BREAST 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 UACC812_BREAST 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK2 p.968_980LPPQPTRPPQPVL>L 9 96021733 96021768 UACC812_BREAST 37 In_Frame_Del Del TGCCC... - rs10124322;rs10114908;rs12352038;rs10121188 uc004ati.1 WNK2_uc011lud.1... Hybrid_Cap...