Annotation Summary for Cell Line: KELLY  

Cell line primary name: KELLY
Cell line aliases:
Gender:
Site Primary: autonomic_ganglia
Histology: neuroblastoma
Hist Subtype1: NS
Notes:
Source: DSMZ
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_D09_296078
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_C01_293328
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KELLY

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 KELLY_AUTONOMIC... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA 17 35766564 35766564 KELLY_AUTONOMIC... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 KELLY_AUTONOMIC... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 KELLY_AUTONOMIC... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 KELLY_AUTONOMIC... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 KELLY_AUTONOMIC... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALK p.F1174L 2 29443695 29443695 KELLY_AUTONOMIC... 37 Missense_Mutation SNP G T uc002rmy.2 ALK_uc010ymo.1_... Hybrid_Cap... view
ALPK1 4 113347609 113347610 KELLY_AUTONOMIC... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 KELLY_AUTONOMIC... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
AURKC 19 57742494 57742507 KELLY_AUTONOMIC... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BIRC6 p.N354K 2 32626258 32626258 KELLY_AUTONOMIC... 37 Missense_Mutation SNP C A uc010ezu.2 Hybrid_Cap... view
BMP2K p.E763del 4 79831985 79831987 KELLY_AUTONOMIC... 37 In_Frame_Del Del GAA - uc003hlk.2 PAQR3_uc003hlm.... Hybrid_Cap...
C15ORF55 p.P1116L 15 34649556 34649556 KELLY_AUTONOMIC... 37 Missense_Mutation SNP C T uc010ucc.1 C15orf55_uc010u... Hybrid_Cap... view
CACNB2 10 18828721 18828722 KELLY_AUTONOMIC... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CASP1 p.S697P 17 59853770 59853770 KELLY_AUTONOMIC... 37 Missense_Mutation SNP A G uc002izk.1 BRIP1_uc002izl.... Hybrid_Cap... view
CASP4 12 92537706 92537707 KELLY_AUTONOMIC... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CDH1 16 68867611 68867612 KELLY_AUTONOMIC... 37 3'UTR Ins - T rs35942505 uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap...
CDK12 p.T82A 17 37618568 37618568 KELLY_AUTONOMIC... 37 Missense_Mutation SNP A G uc010cvv.2 CDK12_uc010wef.... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 KELLY_AUTONOMIC... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 KELLY_AUTONOMIC... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CTLA4 2 204737686 204737686 KELLY_AUTONOMIC... 37 3'UTR SNP C T uc002vak.1 CTLA4_uc002val.... Hybrid_Cap... view
DAPK2 p.R7W 15 64332442 64332442 KELLY_AUTONOMIC... 37 Missense_Mutation SNP T A uc002amr.2 DAPK2_uc010uim.... Hybrid_Cap... view
DIP2C p.R379W 10 454880 454880 KELLY_AUTONOMIC... 37 Missense_Mutation SNP G A uc001ifp.2 DIP2C_uc009xhj.... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 KELLY_AUTONOMIC... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EHBP1 p.N306K 2 63091921 63091921 KELLY_AUTONOMIC... 37 Missense_Mutation SNP C A uc002sby.2 EHBP1_uc010fcp.... Hybrid_Cap... view
EP300 22 41574970 41574972 KELLY_AUTONOMIC... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97467610 97467611 KELLY_AUTONOMIC... 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
ERBB4 p.P386S 2 212570085 212570085 KELLY_AUTONOMIC... 37 Missense_Mutation SNP G A uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ETV1 7 14028708 14028708 KELLY_AUTONOMIC... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FAM123B p.H1025D X 63410094 63410094 KELLY_AUTONOMIC... 37 Missense_Mutation SNP G C uc004dvo.2 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 KELLY_AUTONOMIC... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 KELLY_AUTONOMIC... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 KELLY_AUTONOMIC... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 KELLY_AUTONOMIC... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 KELLY_AUTONOMIC... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 KELLY_AUTONOMIC... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC4 p.A984T 2 239988456 239988456 KELLY_AUTONOMIC... 37 Missense_Mutation SNP C T uc002vyk.3 HDAC4_uc010fyy.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 KELLY_AUTONOMIC... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSPA1B 6 31797769 31797770 KELLY_AUTONOMIC... 37 3'UTR Ins - AAGTT rs67206812 uc003nxk.2 Hybrid_Cap...
ILK 11 6630029 6630029 KELLY_AUTONOMIC... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 KELLY_AUTONOMIC... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JUND 19 18391142 18391143 KELLY_AUTONOMIC... 37 3'UTR Ins - G rs71816628 uc002nip.2 Hybrid_Cap...
KLK7 19 51480672 51480675 KELLY_AUTONOMIC... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP2 p.G1241V 2 170097821 170097821 KELLY_AUTONOMIC... 37 Missense_Mutation SNP C A uc002ues.2 LRP2_uc010zdf.1... Hybrid_Cap... view
MAF 16 79628537 79628538 KELLY_AUTONOMIC... 37 Intron Del TT - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 KELLY_AUTONOMIC... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 p.A390T 15 66782939 66782939 KELLY_AUTONOMIC... 37 Missense_Mutation SNP G A uc010bhq.2 MAP2K1_uc010ujp... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 KELLY_AUTONOMIC... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KELLY_AUTONOMIC... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP4K4 p.A680E 2 102480455 102480455 KELLY_AUTONOMIC... 37 Missense_Mutation SNP C A uc002tbc.2 MAP4K4_uc002tbd... Hybrid_Cap... view
MAPK8 p.A282D 10 49634087 49634087 KELLY_AUTONOMIC... 37 Missense_Mutation SNP C A uc009xnz.2 MAPK8_uc001jgl.... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 KELLY_AUTONOMIC... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 KELLY_AUTONOMIC... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYB 6 135539120 135539120 KELLY_AUTONOMIC... 37 3'UTR SNP A G uc003qfh.2 MYB_uc003qfc.2_... Hybrid_Cap... view
NCAM1 11 112832307 112832308 KELLY_AUTONOMIC... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KELLY_AUTONOMIC... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 113146195 113146195 KELLY_AUTONOMIC... 37 3'UTR SNP C T uc001pns.2 NCAM1_uc001pnt.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 KELLY_AUTONOMIC... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFATC1 18 77287653 77287654 KELLY_AUTONOMIC... 37 3'UTR Del AA - uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap...
NLRP3 p.F383L 1 247587894 247587894 KELLY_AUTONOMIC... 37 Missense_Mutation SNP C A uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NOTCH3 p.T575M 19 15298032 15298032 KELLY_AUTONOMIC... 37 Missense_Mutation SNP G A uc002nan.2 NOTCH3_uc002nao... Hybrid_Cap... view
NPR1 1 153665919 153665920 KELLY_AUTONOMIC... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 p.R78S 3 50387203 50387203 KELLY_AUTONOMIC... 37 Missense_Mutation SNP G T uc003daj.1 NPRL2_uc003dai.... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 KELLY_AUTONOMIC... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 KELLY_AUTONOMIC... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 KELLY_AUTONOMIC... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.I1034M 1 144886132 144886132 KELLY_AUTONOMIC... 37 Missense_Mutation SNP A C uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDE4DIP p.V486fs 1 144917828 144917828 KELLY_AUTONOMIC... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PIK3R1 5 67584512 67584513 KELLY_AUTONOMIC... 37 Intron Ins - T uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap...
PIM1 p.P33S 14 23777073 23777073 KELLY_AUTONOMIC... 37 Missense_Mutation SNP C T uc001wjh.3 BCL2L2_uc001wjg... Hybrid_Cap... view
PIP4K2A 2 223158653 223158653 KELLY_AUTONOMIC... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PLAG1 p.M270V 8 57079497 57079497 KELLY_AUTONOMIC... 37 Missense_Mutation SNP T C uc003xsq.3 PLAG1_uc003xsr.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 KELLY_AUTONOMIC... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAP1GDS1 4 99313249 99313249 KELLY_AUTONOMIC... 37 Intron SNP A G uc003htw.3 RAP1GDS1_uc003h... Hybrid_Cap... view
RBPJ p.R238* 4 26426291 26426291 KELLY_AUTONOMIC... 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 KELLY_AUTONOMIC... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
REM1 20 30064232 30064233 KELLY_AUTONOMIC... 37 5'UTR Ins - C uc002wwa.2 Hybrid_Cap...
SDHD p.W105_splice 11 111959735 111959738 KELLY_AUTONOMIC... 37 Splice_Site_Del Del GGCA - uc001pmz.2 TIMM8B_uc001pmx... Hybrid_Cap...
SIK3 p.V517F 11 116744211 116744211 KELLY_AUTONOMIC... 37 Missense_Mutation SNP C A uc001ppy.2 SIK3_uc001ppz.2... Hybrid_Cap... view
SLC6A8 p.F78L X 152954261 152954261 KELLY_AUTONOMIC... 37 Missense_Mutation SNP T C uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap... view
STK25 2 242435659 242435662 KELLY_AUTONOMIC... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 KELLY_AUTONOMIC... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEX14 p.T873A 17 56665360 56665360 KELLY_AUTONOMIC... 37 Missense_Mutation SNP T C uc010dcz.1 TEX14_uc002iwr.... Hybrid_Cap... view
TLK1 2 171850178 171850179 KELLY_AUTONOMIC... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TP53 p.P177T 17 7578401 7578401 KELLY_AUTONOMIC... 37 Missense_Mutation SNP G T uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189597997 189597997 KELLY_AUTONOMIC... 37 Intron SNP G T uc003fry.2 TP63_uc003frx.2... Hybrid_Cap... view
TRPS1 8 116635872 116635873 KELLY_AUTONOMIC... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 KELLY_AUTONOMIC... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 KELLY_AUTONOMIC... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...