Annotation Summary for Cell Line: BT-549  

Cell line primary name: BT-549
Cell line aliases:
Gender: F
Site Primary: breast
Histology: carcinoma
Hist Subtype1: ductal_carcinoma
Notes:
Source: ATCC
Expression arrays: PARES_p_NCLE_RNA_Redo_HG-U133_Plus_2_A09_257614
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_B08_256040
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in BT-549

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM28 8 24211994 24211997 BT549_BREAST 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 BT549_BREAST 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 BT549_BREAST 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 BT549_BREAST 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALPK2 18 56148937 56148937 BT549_BREAST 37 3'UTR SNP G A uc002lhj.3 Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 BT549_BREAST 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
AURKC 19 57742494 57742507 BT549_BREAST 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCL2L1 p.G227A 20 30253774 30253774 BT549_BREAST 37 Missense_Mutation SNP C G uc002wwl.2 BCL2L1_uc002wwk... Hybrid_Cap... view
BTG1 12 92537706 92537707 BT549_BREAST 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
BUB1B p.Q939K 15 40509833 40509833 BT549_BREAST 37 Missense_Mutation SNP C A uc001zkx.3 PAK6_uc010bbl.2... Hybrid_Cap... view
BUB1B p.K940K 15 40509838 40509838 BT549_BREAST 37 Silent SNP G A uc001zkx.3 PAK6_uc010bbl.2... Hybrid_Cap... view
CABC1 1 227171736 227171737 BT549_BREAST 37 Intron Ins - T rs1574184 uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNA1F p.815_815E>EE X 49076224 49076225 BT549_BREAST 37 In_Frame_Ins Ins - TCC uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap...
CASP10 p.C401fs 2 202074072 202074078 BT549_BREAST 37 Frame_Shift_Del Del GCCAA... - uc002uxj.1 CASP10_uc002uxk... Hybrid_Cap...
CASP4 11 104822788 104822788 BT549_BREAST 37 Intron SNP C T rs7924383 uc001pid.1 CASP4_uc001pib.... Hybrid_Cap... view
CDK14 p.K385N 7 90741857 90741857 BT549_BREAST 37 Missense_Mutation SNP G T uc003uky.2 CDK14_uc003ukz.... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 BT549_BREAST 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD8 14 21853629 21853630 BT549_BREAST 37 3'UTR Ins - T rs75170206;rs78520772 uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CLTC p.C752F 17 57746252 57746252 BT549_BREAST 37 Missense_Mutation SNP G T uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap... view
CLTC p.D1584N 17 57763080 57763080 BT549_BREAST 37 Missense_Mutation SNP G A uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 BT549_BREAST 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 BT549_BREAST 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
COL3A1 p.D1093Y 2 189872247 189872247 BT549_BREAST 37 Missense_Mutation SNP G T uc002uqj.1 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 BT549_BREAST 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSF1R 5 149433400 149433401 BT549_BREAST 37 3'UTR Ins - C rs66970099;rs78449650 uc003lrl.2 CSF1R_uc011dcd.... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 BT549_BREAST 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
DACH1 13 72014625 72014626 BT549_BREAST 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DDR2 1 162750211 162750212 BT549_BREAST 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DLC1 8 13162639 13162639 BT549_BREAST 37 Intron SNP C A uc003wwm.2 DLC1_uc003wwn.2... Hybrid_Cap... view
DOCK3 p.Y1937C 3 51418707 51418707 BT549_BREAST 37 Missense_Mutation SNP A G rs80057194 uc011bds.1 Hybrid_Cap... view
ELN p.K107N 7 73457032 73457032 BT549_BREAST 37 Missense_Mutation SNP G C uc003tzw.2 RFC2_uc011kfa.1... Hybrid_Cap... view
EPHA8 1 22928305 22928305 BT549_BREAST 37 3'UTR SNP G T uc001bfx.1 Hybrid_Cap... view
EPO 7 100320800 100320800 BT549_BREAST 37 3'UTR SNP C G uc003uwi.2 EPO_uc011kkc.1_... Hybrid_Cap... view
ERN2 p.V392I 16 23713762 23713762 BT549_BREAST 37 Missense_Mutation SNP C T uc002dma.3 ERN2_uc010bxp.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 BT549_BREAST 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 BT549_BREAST 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 BT549_BREAST 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 BT549_BREAST 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNC p.T2107A 7 128493633 128493633 BT549_BREAST 37 Missense_Mutation SNP A G uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 BT549_BREAST 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 BT549_BREAST 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GRIA3 X 122318386 122318387 BT549_BREAST 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
HSPA1B 6 31797769 31797770 BT549_BREAST 37 3'UTR Ins - AAGTT rs67206812 uc003nxk.2 Hybrid_Cap...
IL21R 16 27460779 27460780 BT549_BREAST 37 3'UTR Ins - TG rs66690088 uc002doq.1 IL21R_uc002dor.... Hybrid_Cap...
ILK 11 6630029 6630029 BT549_BREAST 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITIH5L p.S31* X 54824552 54824552 BT549_BREAST 37 Nonsense_Mutation SNP G C uc004dtj.2 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 BT549_BREAST 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA1549 p.P1147L 7 138591685 138591685 BT549_BREAST 37 Missense_Mutation SNP G A uc011kql.1 KIAA1549_uc003v... Hybrid_Cap... view
KLK7 19 51480672 51480675 BT549_BREAST 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMA1 p.R900C 18 7023166 7023166 BT549_BREAST 37 Missense_Mutation SNP G A uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LEMD1 1 205350757 205350757 BT549_BREAST 37 3'UTR SNP C G uc001hci.1 LEMD1_uc001hcj.... Hybrid_Cap... view
LMNB1 p.H253R 5 126145987 126145987 BT549_BREAST 37 Missense_Mutation SNP A G uc003kud.1 LMNB1_uc003kuc.... Hybrid_Cap... view
MAML1 p.R952Q 5 179201682 179201682 BT549_BREAST 37 Missense_Mutation SNP G A uc003mkm.2 MAML1_uc003mkn.... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 BT549_BREAST 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 BT549_BREAST 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 BT549_BREAST 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKBP1 15 42111745 42111746 BT549_BREAST 37 Intron Ins - GG rs116367502 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MECOM 3 169381262 169381262 BT549_BREAST 37 5'UTR SNP G C rs10581416 uc011bpj.1 MECOM_uc011bpk.... Hybrid_Cap... view
MLLT3 p.156_157SS>S 9 20414374 20414376 BT549_BREAST 37 In_Frame_Del Del CTA - rs1761445 uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 BT549_BREAST 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MUTYH p.W427L 1 45797135 45797135 BT549_BREAST 37 Missense_Mutation SNP C A uc009vxp.2 MUTYH_uc009vxn.... Hybrid_Cap... view
MYT1 20 62871868 62871868 BT549_BREAST 37 3'UTR SNP G A uc002yii.2 MYT1_uc002yij.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 BT549_BREAST 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 BT549_BREAST 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAPD3 p.K1491E 11 134022865 134022865 BT549_BREAST 37 Missense_Mutation SNP T C uc001qhd.1 NCAPD3_uc010scm... Hybrid_Cap... view
NCOA3 p.Q1276del 20 46279837 46279839 BT549_BREAST 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NCOA3 20 46282339 46282340 BT549_BREAST 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NCOA4 p.T323I 10 51584821 51584821 BT549_BREAST 37 Missense_Mutation SNP C T uc009xon.2 PARG_uc001jih.2... Hybrid_Cap... view
NEK10 3 27257312 27257312 BT549_BREAST 37 3'UTR SNP G A uc003cdt.1 NEK10_uc003cds.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 BT549_BREAST 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 BT549_BREAST 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPR1 1 153665919 153665920 BT549_BREAST 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 BT549_BREAST 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223158653 223158653 BT549_BREAST 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.E2333_splice 1 144854164 144854164 BT549_BREAST 37 Splice_Site_SNP SNP C A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDE4DIP p.Q1665fs 1 144873963 144873963 BT549_BREAST 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 BT549_BREAST 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PMS1 2 190670539 190670540 BT549_BREAST 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKCZ p.Y263* 1 2082330 2082330 BT549_BREAST 37 Nonsense_Mutation SNP C G uc001aiq.2 PRKCZ_uc001air.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 BT549_BREAST 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSKH2 p.G72D 8 87076831 87076831 BT549_BREAST 37 Missense_Mutation SNP C T rs56407605 uc011lfy.1 Hybrid_Cap... view
PTPRD p.D1545N 9 8375964 8375964 BT549_BREAST 37 Missense_Mutation SNP C T uc003zkk.2 PTPRD_uc003zkp.... Hybrid_Cap... view
PTPRT p.N510T 20 41076891 41076891 BT549_BREAST 37 Missense_Mutation SNP T G uc010ggj.2 PTPRT_uc002xkg.... Hybrid_Cap... view
RBPJ p.R238* 4 26426291 26426291 BT549_BREAST 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 BT549_BREAST 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROBO2 3 77666937 77666937 BT549_BREAST 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 BT549_BREAST 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SMURF1 p.I506V 7 98638113 98638113 BT549_BREAST 37 Missense_Mutation SNP T C uc003upu.1 SMURF1_uc003upv... Hybrid_Cap... view
STK25 2 242435659 242435662 BT549_BREAST 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 BT549_BREAST 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STRADA 17 61781331 61781332 BT549_BREAST 37 Intron Ins - AGAACC rs66701913 uc002jbm.2 STRADA_uc002jbn... Hybrid_Cap...
SUFU p.A22fs 10 104263973 104263974 BT549_BREAST 37 Frame_Shift_Ins Ins - C uc001kvy.1 SUFU_uc001kvw.1... Hybrid_Cap...
TGFB2 1 218519928 218519929 BT549_BREAST 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TIAM1 21 32585531 32585531 BT549_BREAST 37 Intron SNP A G uc002yow.1 TIAM1_uc011adk.... Hybrid_Cap... view
TLK1 2 171850178 171850179 BT549_BREAST 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 BT549_BREAST 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMEM123 11 102269461 102269461 BT549_BREAST 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNK2 p.A755A 3 195595093 195595093 BT549_BREAST 37 Silent SNP C T uc003fvt.1 TNK2_uc003fvq.1... Hybrid_Cap... view
TRIM33 1 114940215 114940216 BT549_BREAST 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRIM42 p.R348* 3 140406566 140406566 BT549_BREAST 37 Nonsense_Mutation SNP C T uc003eto.1 Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 BT549_BREAST 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN p.E27449K 2 179417578 179417578 BT549_BREAST 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R4120C 2 179597813 179597813 BT549_BREAST 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 BT549_BREAST 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B 8 100887922 100887923 BT549_BREAST 37 3'UTR Del TG - uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap...