Annotation Summary for Cell Line: BT-20  

Cell line primary name: BT-20
Cell line aliases:
Gender: F
Site Primary: breast
Histology: carcinoma
Hist Subtype1: ductal_carcinoma
Notes:
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_C02_383640
SNP arrays: FASTS_p_NCLE_DNAAffy4_S_GenomeWideSNP_6_F06_335318
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in BT-20

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 BT20_BREAST 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 BT20_BREAST 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 BT20_BREAST 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AFF3 p.S389_splice 2 100289052 100289052 BT20_BREAST 37 Splice_Site_SNP SNP C A uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 BT20_BREAST 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 BT20_BREAST 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALS2 p.K1045N 2 202591434 202591434 BT20_BREAST 37 Missense_Mutation SNP C A uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap... view
AURKC 19 57742494 57742507 BT20_BREAST 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCL10 p.T130M 1 85733623 85733623 BT20_BREAST 37 Missense_Mutation SNP G A uc001dkz.2 Hybrid_Cap... view
BIRC5 17 76219784 76219785 BT20_BREAST 37 3'UTR Ins - AA uc002jvf.2 BIRC5_uc002jvg.... Hybrid_Cap...
BIRC6 p.R2902C 2 32724849 32724849 BT20_BREAST 37 Missense_Mutation SNP C T uc010ezu.2 Hybrid_Cap... view
BLK p.N286K 8 11414252 11414252 BT20_BREAST 37 Missense_Mutation SNP C G uc003wty.2 BLK_uc003wtz.2_... Hybrid_Cap... view
BRCA2 p.T3357R 13 32972720 32972720 BT20_BREAST 37 Missense_Mutation SNP C G rs80358388 uc001uub.1 Hybrid_Cap... view
CACNB2 10 18828721 18828722 BT20_BREAST 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDK11B 1 1654066 1654068 BT20_BREAST 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDKN2C p.A72P 1 51439649 51439649 BT20_BREAST 37 Missense_Mutation SNP G C uc001csf.2 CDKN2C_uc001csg... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 BT20_BREAST 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 BT20_BREAST 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
COL1A1 p.E1230K 17 48264127 48264127 BT20_BREAST 37 Missense_Mutation SNP C T uc002iqm.2 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 BT20_BREAST 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSMD3 p.G2267* 8 113349814 113349814 BT20_BREAST 37 Nonsense_Mutation SNP C A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 BT20_BREAST 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CXCL12 10 44873992 44873993 BT20_BREAST 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CYFIP1 p.S619L 15 22958213 22958213 BT20_BREAST 37 Missense_Mutation SNP C T uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
CYLD 16 50830453 50830453 BT20_BREAST 37 3'UTR SNP G T uc002egp.1 CYLD_uc002egq.1... Hybrid_Cap... view
DNMT3B p.R440fs 20 31384616 31384617 BT20_BREAST 37 Frame_Shift_Ins Ins - G uc002wyc.2 DNMT3B_uc010ztx... Hybrid_Cap...
DYRK1A 21 38884966 38884967 BT20_BREAST 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EPHA5 p.G446V 4 66356160 66356160 BT20_BREAST 37 Missense_Mutation SNP C A uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA5 p.P323S 4 66361205 66361205 BT20_BREAST 37 Missense_Mutation SNP G A uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA6 p.R1089I 3 97466404 97466404 BT20_BREAST 37 Missense_Mutation SNP G T uc010how.1 EPHA6_uc010hox.... Hybrid_Cap... view
EPHA6 3 97467610 97467611 BT20_BREAST 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
EPS15 1 51822220 51822220 BT20_BREAST 37 3'UTR Del A - uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap...
ESR2 p.W439C 14 64701777 64701777 BT20_BREAST 37 Missense_Mutation SNP C A rs113652563 uc001xha.1 ESR2_uc001xgu.2... Hybrid_Cap... view
FANCF p.G233W 11 22646660 22646660 BT20_BREAST 37 Missense_Mutation SNP C A uc001mql.1 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 BT20_BREAST 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 BT20_BREAST 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 BT20_BREAST 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GLG1 16 74486965 74486965 BT20_BREAST 37 Intron SNP G A uc002fcx.2 GLG1_uc002fcy.3... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 BT20_BREAST 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GPR119 p.W238* X 129518709 129518709 BT20_BREAST 37 Nonsense_Mutation SNP C T uc011muv.1 Hybrid_Cap... view
GRIA3 X 122318386 122318387 BT20_BREAST 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2A p.P269L 16 10032017 10032017 BT20_BREAST 37 Missense_Mutation SNP G A uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
HIF1A 14 62213929 62213930 BT20_BREAST 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK3 p.P934R 11 33370827 33370827 BT20_BREAST 37 Missense_Mutation SNP C G uc001mul.1 HIPK3_uc001mum.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 BT20_BREAST 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 BT20_BREAST 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 BT20_BREAST 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.E1362G 12 26749985 26749985 BT20_BREAST 37 Missense_Mutation SNP T C uc001rhg.2 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 BT20_BREAST 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KDR p.G837_splice 4 55963934 55963934 BT20_BREAST 37 Splice_Site_SNP SNP C A uc003has.2 KDR_uc003hat.1_... Hybrid_Cap... view
KLK7 19 51480672 51480675 BT20_BREAST 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LIFR p.N1096K 5 38481703 38481703 BT20_BREAST 37 Missense_Mutation SNP G T rs3729751 uc010ive.1 LIFR_uc003jli.2... Hybrid_Cap... view
LRP1B p.A1633P 2 141607713 141607713 BT20_BREAST 37 Missense_Mutation SNP C G uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
LRP1B p.W680* 2 141773415 141773415 BT20_BREAST 37 Nonsense_Mutation SNP C T uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
MAF 16 79628537 79628537 BT20_BREAST 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MALT1 p.D472Y 18 56401552 56401552 BT20_BREAST 37 Missense_Mutation SNP G T uc002lhm.1 MALT1_uc002lhn.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 BT20_BREAST 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 BT20_BREAST 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K13 p.A178G 3 185155292 185155292 BT20_BREAST 37 Missense_Mutation SNP C G uc010hyf.2 MAP3K13_uc011br... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 BT20_BREAST 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 BT20_BREAST 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MCM3APAS 21 47671275 47671276 BT20_BREAST 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MLH1 p.E578G 3 37089011 37089011 BT20_BREAST 37 Missense_Mutation SNP A G uc003cgl.2 MLH1_uc011aye.1... Hybrid_Cap... view
MN1 p.544_546QQQ>Q 22 28194895 28194900 BT20_BREAST 37 In_Frame_Del Del TGCTG... - rs75719175 uc003adj.2 Hybrid_Cap...
MSI2 17 55709256 55709256 BT20_BREAST 37 Intron SNP C A uc002iuz.1 MSI2_uc010wnm.1... Hybrid_Cap... view
MYH1 p.A1886G 17 10397681 10397681 BT20_BREAST 37 Missense_Mutation SNP G C uc002gmo.2 Hybrid_Cap... view
MYST4 p.EEED1074del 10 76781837 76781848 BT20_BREAST 37 In_Frame_Del Del GAGGA... - rs11001247 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NACA p.P1306fs 12 57111395 57111396 BT20_BREAST 37 Frame_Shift_Ins Ins - G uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap...
NAV3 12 78225113 78225113 BT20_BREAST 37 5'UTR SNP C G uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 BT20_BREAST 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 BT20_BREAST 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 BT20_BREAST 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFKBIA 14 35871136 35871138 BT20_BREAST 37 3'UTR Del TTC - rs112369437 uc001wtf.3 NFKBIA_uc001wte... Hybrid_Cap...
NPR2 p.P426S 9 35800763 35800763 BT20_BREAST 37 Missense_Mutation SNP C T uc003zyd.2 NPR2_uc010mlb.2... Hybrid_Cap... view
NPR2 9 35809551 35809552 BT20_BREAST 37 3'UTR Ins - C rs79548753 uc003zyd.2 NPR2_uc010mlb.2... Hybrid_Cap...
NRK p.I1493M X 105193692 105193692 BT20_BREAST 37 Missense_Mutation SNP C G uc004emd.2 NRK_uc011msi.1_... Hybrid_Cap... view
NSD1 p.I852L 5 176637954 176637954 BT20_BREAST 37 Missense_Mutation SNP A T uc003mfr.3 NSD1_uc003mft.3... Hybrid_Cap... view
PGGT1B 5 114548071 114548072 BT20_BREAST 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PGR 11 100933598 100933599 BT20_BREAST 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 BT20_BREAST 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CA p.P539R 3 178936074 178936074 BT20_BREAST 37 Missense_Mutation SNP C G uc003fjk.2 Hybrid_Cap... view
PIK3CA p.H1047R 3 178952085 178952085 BT20_BREAST 37 Missense_Mutation SNP A G uc003fjk.2 Hybrid_Cap... view
PIP4K2A 10 22825876 22825876 BT20_BREAST 37 3'UTR SNP G A uc001irl.3 PIP4K2A_uc010qc... Hybrid_Cap... view
PKHD1 p.H612R 6 51920386 51920386 BT20_BREAST 37 Missense_Mutation SNP T C uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PMS1 2 190670539 190670540 BT20_BREAST 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PPARGC1A p.T744S 4 23803415 23803415 BT20_BREAST 37 Missense_Mutation SNP G C uc003gqs.2 PPARGC1A_uc003g... Hybrid_Cap... view
PTPRC p.D508N 1 198687299 198687300 BT20_BREAST 37 Missense_Mutation DNP GG AA uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap...
PTTG1 5 159855721 159855721 BT20_BREAST 37 3'UTR SNP G C uc003lyj.2 PTTG1_uc003lyk.... Hybrid_Cap... view
PTTG1 5 159855745 159855745 BT20_BREAST 37 3'UTR SNP G A uc003lyj.2 PTTG1_uc003lyk.... Hybrid_Cap... view
RAG1 p.H92Y 11 36595128 36595128 BT20_BREAST 37 Missense_Mutation SNP C T uc001mwu.3 RAG1_uc001mwt.2... Hybrid_Cap... view
RAP1GDS1 p.G266D 4 99337926 99337926 BT20_BREAST 37 Missense_Mutation SNP G A uc003htw.3 RAP1GDS1_uc003h... Hybrid_Cap... view
RAP1GDS1 p.E284Q 4 99337979 99337979 BT20_BREAST 37 Missense_Mutation SNP G C uc003htw.3 RAP1GDS1_uc003h... Hybrid_Cap... view
RB1 p.I388S 13 48947576 48947576 BT20_BREAST 37 Missense_Mutation SNP T G uc001vcb.2 RB1_uc010act.1_... Hybrid_Cap... view
RB1 p.P515L 13 48955428 48955428 BT20_BREAST 37 Missense_Mutation SNP C T uc001vcb.2 Hybrid_Cap... view
RIOK1 6 7417768 7417768 BT20_BREAST 37 3'UTR SNP C A uc003mxn.2 RIOK1_uc003mxo.... Hybrid_Cap... view
ROCK2 p.R1057W 2 11337762 11337762 BT20_BREAST 37 Missense_Mutation SNP G A uc002rbd.1 Hybrid_Cap... view
ROCK2 p.Y166D 2 11376055 11376055 BT20_BREAST 37 Missense_Mutation SNP A C uc002rbd.1 Hybrid_Cap... view
ROS1 p.D618E 6 117709103 117709103 BT20_BREAST 37 Missense_Mutation SNP G C uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 BT20_BREAST 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KB1 17 58024224 58024225 BT20_BREAST 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
SMURF1 7 98628089 98628089 BT20_BREAST 37 3'UTR SNP T G uc003upu.1 SMURF1_uc003upv... Hybrid_Cap... view
SPP1 4 88904203 88904203 BT20_BREAST 37 3'UTR SNP G C uc011cde.1 SPP1_uc003hra.2... Hybrid_Cap... view
TCF21 6 134210497 134210498 BT20_BREAST 37 5'UTR Ins - TCTC rs35199378 uc003qei.3 TCF21_uc003qej.... Hybrid_Cap...
THBS3 p.K106N 1 155175076 155175076 BT20_BREAST 37 Missense_Mutation SNP T G uc001fix.2 RAG1AP1_uc010pe... Hybrid_Cap... view
TMEM123 11 102269398 102269398 BT20_BREAST 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNFRSF11B p.T60N 8 119945391 119945391 BT20_BREAST 37 Missense_Mutation SNP G T uc003yon.3 TNFRSF11B_uc010... Hybrid_Cap... view
TNRC6B p.Q1328del 22 40697177 40697179 BT20_BREAST 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.K132Q 17 7578536 7578536 BT20_BREAST 37 Missense_Mutation SNP T G uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 BT20_BREAST 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN 2 179391639 179391640 BT20_BREAST 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.G6659E 2 179584511 179584511 BT20_BREAST 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VAV1 p.D98H 19 6820800 6820800 BT20_BREAST 37 Missense_Mutation SNP G C uc002mfu.1 VAV1_uc010xjh.1... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 BT20_BREAST 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B p.R1974* 8 100654663 100654663 BT20_BREAST 37 Nonsense_Mutation SNP C T uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view
WNK1 p.TSS1848del 12 1003758 1003766 BT20_BREAST 37 In_Frame_Del Del CAACT... - uc001qio.3 WNK1_uc001qip.3... Hybrid_Cap...