Annotation Summary for Cell Line: KP-N-RT-BM-1  

Cell line primary name: KP-N-RT-BM-1
Cell line aliases:
Gender:
Site Primary: autonomic_ganglia
Histology: neuroblastoma
Hist Subtype1: NS
Notes:
Source: HSRRB
Expression arrays: BITTS_p_NCLE_RNA12_HG-U133_Plus_2_D04_698920
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_C05_437510
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KP-N-RT-BM-1

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 KPNRTBM1_AUTONO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADCK5 p.T354T 8 145617188 145617188 KPNRTBM1_AUTONO... 37 Silent SNP C T uc003zch.2 ADCK5_uc003zcg.... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 KPNRTBM1_AUTONO... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALK p.F1174L 2 29443695 29443695 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP G T uc002rmy.2 ALK_uc010ymo.1_... Hybrid_Cap... view
CACNB2 10 18828721 18828722 KPNRTBM1_AUTONO... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CHRNA5 15 78885615 78885616 KPNRTBM1_AUTONO... 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 KPNRTBM1_AUTONO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN5 11 100227144 100227144 KPNRTBM1_AUTONO... 37 3'UTR SNP C T uc001pga.2 CNTN5_uc001pgb.... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 KPNRTBM1_AUTONO... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CXCL12 10 44873992 44873993 KPNRTBM1_AUTONO... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DACH1 13 72014625 72014626 KPNRTBM1_AUTONO... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DCLK2 p.T700I 4 151170811 151170811 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP C T uc003ilo.3 DCLK2_uc003ilm.... Hybrid_Cap... view
DGKG p.R312C 3 185990109 185990109 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP G A uc003fqa.2 DGKG_uc003fqb.2... Hybrid_Cap... view
EPHA6 3 97367230 97367231 KPNRTBM1_AUTONO... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 KPNRTBM1_AUTONO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 KPNRTBM1_AUTONO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR2 10 123276800 123276801 KPNRTBM1_AUTONO... 37 Intron Ins - A uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap...
FLI1 11 128638217 128638217 KPNRTBM1_AUTONO... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT4 5 180035183 180035185 KPNRTBM1_AUTONO... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 KPNRTBM1_AUTONO... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FOXP1 3 71008341 71008342 KPNRTBM1_AUTONO... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 KPNRTBM1_AUTONO... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GUCY2C 12 14827464 14827466 KPNRTBM1_AUTONO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 KPNRTBM1_AUTONO... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ITGA5 p.R511Q 12 54797962 54797962 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP C T uc001sga.2 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 KPNRTBM1_AUTONO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAK2 9 5126843 5126843 KPNRTBM1_AUTONO... 37 3'UTR SNP A G uc010mhm.2 JAK2_uc003ziw.2... Hybrid_Cap... view
KIAA1549 p.G820S 7 138601914 138601914 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP C T uc011kql.1 KIAA1549_uc003v... Hybrid_Cap... view
LATS2 13 21620222 21620223 KPNRTBM1_AUTONO... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LRGUK p.L702I 7 133933734 133933734 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP C A uc003vrm.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 KPNRTBM1_AUTONO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KPNRTBM1_AUTONO... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK6 p.M702V 15 52357135 52357135 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP A G uc002abp.2 Hybrid_Cap... view
MARK1 p.Q441L 1 220809220 220809220 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP A T uc009xdw.2 MARK1_uc001hmn.... Hybrid_Cap... view
MARK3 p.A516T 14 103946787 103946787 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP G A uc001ymz.3 MARK3_uc001ymx.... Hybrid_Cap... view
MSH6 p.C1294S 2 48033670 48033670 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP G C uc002rwd.3 MSH6_uc010fbj.2... Hybrid_Cap... view
MTUS2 p.R1137Q 13 30054482 30054482 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP G A uc001usl.3 MTUS2_uc001usm.... Hybrid_Cap... view
MYH1 p.L399P 17 10415461 10415461 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP A G uc002gmo.2 Hybrid_Cap... view
MYLK 3 123332876 123332876 KPNRTBM1_AUTONO... 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK p.E1066del 3 123419117 123419119 KPNRTBM1_AUTONO... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYO18B p.D93D 22 26164162 26164162 KPNRTBM1_AUTONO... 37 Silent SNP C T uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
MYST4 p.EEE1366del 10 76788660 76788668 KPNRTBM1_AUTONO... 37 In_Frame_Del Del GAAGA... - uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NCAM1 11 112832307 112832308 KPNRTBM1_AUTONO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KPNRTBM1_AUTONO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAPD3 p.H260D 11 134079055 134079055 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP G C uc001qhd.1 NCAPD3_uc010scm... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 KPNRTBM1_AUTONO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921186 61921186 KPNRTBM1_AUTONO... 37 3'UTR Del T - rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPM1 p.E245Q 5 170832369 170832369 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP G C uc011dex.1 NPM1_uc003mbh.2... Hybrid_Cap... view
NPR1 1 153665919 153665920 KPNRTBM1_AUTONO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KPNRTBM1_AUTONO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223066017 223066018 KPNRTBM1_AUTONO... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 KPNRTBM1_AUTONO... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2A p.R243K 11 17190561 17190561 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP C T uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 KPNRTBM1_AUTONO... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PLEKHA5 p.R409Q 12 19427830 19427830 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP G A uc010sie.1 PLEKHA5_uc001re... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 KPNRTBM1_AUTONO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RASGRF1 15 79277150 79277151 KPNRTBM1_AUTONO... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
TNIK p.E844K 3 170819299 170819299 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP C T uc003fhh.2 TNIK_uc003fhi.2... Hybrid_Cap... view
TOP2A p.R675Q 17 38561065 38561065 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP C T uc002huq.2 Hybrid_Cap... view
TP63 3 189507518 189507519 KPNRTBM1_AUTONO... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPS1 8 116635872 116635873 KPNRTBM1_AUTONO... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.Q22113R 2 179436817 179436817 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.P17440L 2 179456523 179456523 KPNRTBM1_AUTONO... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBE3B 12 109947357 109947358 KPNRTBM1_AUTONO... 37 Intron Ins - T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 KPNRTBM1_AUTONO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...