Annotation Summary for Cell Line: BFTC-909  

Cell line primary name: BFTC-909
Cell line aliases:
Gender: M
Site Primary: kidney
Histology: carcinoma
Hist Subtype1: NS
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_C08_474696
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_D01_490476
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in BFTC-909

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 BFTC909_KIDNEY 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACB p.R1612C 12 109678898 109678898 BFTC909_KIDNEY 37 Missense_Mutation SNP C T rs17848829 uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ADAM10 p.H309N 15 58933063 58933063 BFTC909_KIDNEY 37 Missense_Mutation SNP G T uc002afd.1 ADAM10_uc010bgc... Hybrid_Cap... view
ADAM28 8 24211994 24211997 BFTC909_KIDNEY 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.I55F 4 175896839 175896839 BFTC909_KIDNEY 37 Missense_Mutation SNP A T uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 BFTC909_KIDNEY 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 BFTC909_KIDNEY 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 BFTC909_KIDNEY 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK1 p.S942del 4 113353523 113353525 BFTC909_KIDNEY 37 In_Frame_Del Del TTC - uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 BFTC909_KIDNEY 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALS2 2 202587706 202587707 BFTC909_KIDNEY 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
ATP11A p.C429Y 13 113485753 113485753 BFTC909_KIDNEY 37 Missense_Mutation SNP G A uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
AURKC 19 57742531 57742532 BFTC909_KIDNEY 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCR p.S429L 22 23595992 23595992 BFTC909_KIDNEY 37 Missense_Mutation SNP C T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap... view
CACNB2 10 18828721 18828722 BFTC909_KIDNEY 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMKK2 12 121698269 121698269 BFTC909_KIDNEY 37 Intron SNP A G uc001tzu.2 CAMKK2_uc001tzt... Hybrid_Cap... view
CDK11B 1 1654066 1654068 BFTC909_KIDNEY 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK13 p.E1266K 7 40133836 40133836 BFTC909_KIDNEY 37 Missense_Mutation SNP G A uc003thh.3 CDK13_uc003thi.... Hybrid_Cap... view
CHD9 p.A1740V 16 53321898 53321898 BFTC909_KIDNEY 37 Missense_Mutation SNP C T uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 BFTC909_KIDNEY 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 BFTC909_KIDNEY 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 BFTC909_KIDNEY 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CRTC1 p.S319T 19 18876234 18876234 BFTC909_KIDNEY 37 Missense_Mutation SNP T A uc010ebv.2 CRTC1_uc002nkb.... Hybrid_Cap... view
DGKB 7 14216345 14216346 BFTC909_KIDNEY 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DPYD p.D414G 1 98039414 98039414 BFTC909_KIDNEY 37 Missense_Mutation SNP T C uc001drv.2 Hybrid_Cap... view
DST 6 56472194 56472194 BFTC909_KIDNEY 37 Intron SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EDNRA 4 148463789 148463789 BFTC909_KIDNEY 37 3'UTR SNP C T uc003iky.2 EDNRA_uc011cid.... Hybrid_Cap... view
EML4 p.S352C 2 42513452 42513452 BFTC909_KIDNEY 37 Missense_Mutation SNP C G uc002rsi.2 EML4_uc010fap.2... Hybrid_Cap... view
EPHA3 p.L16I 3 89156944 89156944 BFTC909_KIDNEY 37 Missense_Mutation SNP C A uc003dqy.2 EPHA3_uc003dqx.... Hybrid_Cap... view
EPHA6 p.R1089K 3 97466404 97466404 BFTC909_KIDNEY 37 Missense_Mutation SNP G A uc010how.1 EPHA6_uc010hox.... Hybrid_Cap... view
FBN1 p.E1552K 15 48760228 48760228 BFTC909_KIDNEY 37 Missense_Mutation SNP C T uc001zwx.1 FBN1_uc010beo.1... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 BFTC909_KIDNEY 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLT4 5 180035183 180035185 BFTC909_KIDNEY 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FN1 2 216244182 216244185 BFTC909_KIDNEY 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 BFTC909_KIDNEY 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 BFTC909_KIDNEY 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 BFTC909_KIDNEY 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 BFTC909_KIDNEY 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 BFTC909_KIDNEY 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 BFTC909_KIDNEY 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 BFTC909_KIDNEY 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRS2 13 110408587 110408587 BFTC909_KIDNEY 37 3'UTR SNP G A uc001vqv.2 Hybrid_Cap... view
ITGB4 p.E1309Q 17 73748386 73748386 BFTC909_KIDNEY 37 Missense_Mutation SNP G C uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap... view
JAK2 9 5126843 5126843 BFTC909_KIDNEY 37 3'UTR SNP A G uc010mhm.2 JAK2_uc003ziw.2... Hybrid_Cap... view
LRP1B p.D1693N 2 141598524 141598524 BFTC909_KIDNEY 37 Missense_Mutation SNP C T uc002tvj.1 Hybrid_Cap... view
MAF 16 79628537 79628537 BFTC909_KIDNEY 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 BFTC909_KIDNEY 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 BFTC909_KIDNEY 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 BFTC909_KIDNEY 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 BFTC909_KIDNEY 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MLLT6 17 36881873 36881873 BFTC909_KIDNEY 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MMP9 p.S300Y 20 44640288 44640288 BFTC909_KIDNEY 37 Missense_Mutation SNP C A uc002xqz.2 Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 BFTC909_KIDNEY 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYLK4 p.G114R 6 2689086 2689086 BFTC909_KIDNEY 37 Missense_Mutation SNP C T uc003mty.3 Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 BFTC909_KIDNEY 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
MYST4 10 76790936 76790936 BFTC909_KIDNEY 37 3'UTR Del A - uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NCAM1 11 112832307 112832308 BFTC909_KIDNEY 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 BFTC909_KIDNEY 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 BFTC909_KIDNEY 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NCOA3 20 46282339 46282340 BFTC909_KIDNEY 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 BFTC909_KIDNEY 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NPR1 1 153665919 153665920 BFTC909_KIDNEY 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 BFTC909_KIDNEY 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 BFTC909_KIDNEY 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223066017 223066018 BFTC909_KIDNEY 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 BFTC909_KIDNEY 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCDH15 p.G1156R 10 55663053 55663053 BFTC909_KIDNEY 37 Missense_Mutation SNP C T uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PDE4DIP p.L601fs 1 144915624 144915624 BFTC909_KIDNEY 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 BFTC909_KIDNEY 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDK4 7 95221928 95221928 BFTC909_KIDNEY 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PGAP3 p.G3D 17 37844260 37844260 BFTC909_KIDNEY 37 Missense_Mutation SNP C T uc002hsj.2 ERBB2_uc002hsm.... Hybrid_Cap... view
PIK3CA p.E545K 3 178936091 178936091 BFTC909_KIDNEY 37 Missense_Mutation SNP G A rs104886003 uc003fjk.2 Hybrid_Cap... view
PRKCI p.E42Q 3 169953040 169953040 BFTC909_KIDNEY 37 Missense_Mutation SNP G C uc003fgs.2 Hybrid_Cap... view
PRKCI p.E73K 3 169953133 169953133 BFTC909_KIDNEY 37 Missense_Mutation SNP G A uc003fgs.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 BFTC909_KIDNEY 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RASGRF2 p.D622N 5 80408454 80408454 BFTC909_KIDNEY 37 Missense_Mutation SNP G A uc003kha.1 RASGRF2_uc011ct... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 BFTC909_KIDNEY 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RGL4 p.T333M 22 24036619 24036619 BFTC909_KIDNEY 37 Missense_Mutation SNP C T uc002zxn.2 LOC91316_uc002z... Hybrid_Cap... view
RIF1 p.E1562del 2 152320713 152320715 BFTC909_KIDNEY 37 In_Frame_Del Del AAG - uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap...
RIPK3 14 24807804 24807804 BFTC909_KIDNEY 37 Intron SNP G A uc001wpb.2 RIPK3_uc001wpa.... Hybrid_Cap... view
ROBO2 3 77666937 77666937 BFTC909_KIDNEY 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPS6KA5 14 91360733 91360734 BFTC909_KIDNEY 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
STK31 7 23872024 23872025 BFTC909_KIDNEY 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK32C p.C142R 10 134041566 134041566 BFTC909_KIDNEY 37 Missense_Mutation SNP A G uc010quu.1 STK32C_uc001lld... Hybrid_Cap... view
TAOK3 12 118588761 118588762 BFTC909_KIDNEY 37 3'UTR Ins - T rs116872184 uc001twx.2 TAOK3_uc001twv.... Hybrid_Cap...
TAOK3 p.E21* 12 118693312 118693312 BFTC909_KIDNEY 37 Nonsense_Mutation SNP C A uc001twx.2 TAOK3_uc001twy.... Hybrid_Cap... view
TAOK3 12 118693407 118693407 BFTC909_KIDNEY 37 5'UTR SNP C T uc001twx.2 TAOK3_uc001twy.... Hybrid_Cap... view
TMEM123 11 102269398 102269398 BFTC909_KIDNEY 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.S241C 17 7577559 7577559 BFTC909_KIDNEY 37 Missense_Mutation SNP G C rs28934573 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53 p.E224* 17 7578179 7578179 BFTC909_KIDNEY 37 Nonsense_Mutation SNP C A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 BFTC909_KIDNEY 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPS1 8 116635872 116635873 BFTC909_KIDNEY 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 BFTC909_KIDNEY 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.N15385K 2 179470163 179470163 BFTC909_KIDNEY 37 Missense_Mutation SNP A T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBE3B 12 109947357 109947358 BFTC909_KIDNEY 37 Intron Ins - T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 BFTC909_KIDNEY 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZBTB16 p.G178R 11 113934554 113934554 BFTC909_KIDNEY 37 Missense_Mutation SNP G A uc001pop.2 ZBTB16_uc001poo... Hybrid_Cap... view
ZMYM2 13 20660163 20660163 BFTC909_KIDNEY 37 3'UTR SNP G A uc001umr.2 ZMYM2_uc001ums.... Hybrid_Cap... view