Annotation Summary for Cell Line: SIMA  

Cell line primary name: SIMA
Cell line aliases:
Gender: M
Site Primary: autonomic_ganglia
Histology: neuroblastoma
Hist Subtype1: NS
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_F05_474682
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_A12_490504
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SIMA

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM17 2 9630245 9630245 SIMA_AUTONOMIC_... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SIMA_AUTONOMIC_... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 SIMA_AUTONOMIC_... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.S2613N 7 91709285 91709285 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP G A uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
ALPK1 4 113347609 113347610 SIMA_AUTONOMIC_... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 SIMA_AUTONOMIC_... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
BRCA2 p.V1306G 13 32912409 32912409 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP T G rs80358637 uc001uub.1 Hybrid_Cap... view
CACNA1F p.R1289C X 49069237 49069237 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP G A uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap... view
CCDC50 p.R330S 3 191097961 191097961 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP A T uc003fsv.2 CCDC50_uc003fsw... Hybrid_Cap... view
CDK3 p.V258F 17 73999375 73999375 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP G T uc002jqg.3 CDK3_uc010dgt.2... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 SIMA_AUTONOMIC_... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD9 p.2164_2165SS>S 16 53338410 53338412 SIMA_AUTONOMIC_... 37 In_Frame_Del Del TTC - uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap...
CIITA p.M211I 16 10996516 10996516 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP G A uc002daj.3 CIITA_uc002dai.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SIMA_AUTONOMIC_... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 SIMA_AUTONOMIC_... 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 SIMA_AUTONOMIC_... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 SIMA_AUTONOMIC_... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
DAPK1 9 90263690 90263690 SIMA_AUTONOMIC_... 37 Intron SNP C T uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap... view
DOCK3 p.I444F 3 51263157 51263157 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP A T uc011bds.1 Hybrid_Cap... view
DYRK1B p.G352A 19 40317965 40317965 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP C G uc002omj.2 DYRK1B_uc002omi... Hybrid_Cap... view
DYRK3 p.L311S 1 206821475 206821475 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP T C uc001hej.2 DYRK3_uc001hek.... Hybrid_Cap... view
EIF4E 4 99808137 99808141 SIMA_AUTONOMIC_... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EP300 22 41574970 41574972 SIMA_AUTONOMIC_... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 SIMA_AUTONOMIC_... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERBB3 12 56492196 56492196 SIMA_AUTONOMIC_... 37 Intron Del A - rs77351535 uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 SIMA_AUTONOMIC_... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 SIMA_AUTONOMIC_... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT4 5 180035183 180035185 SIMA_AUTONOMIC_... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FMN2 p.PGAGIPPPPPL1096del 1 240371023 240371055 SIMA_AUTONOMIC_... 37 In_Frame_Del Del CCCGG... - uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
GPC3 X 132888208 132888208 SIMA_AUTONOMIC_... 37 Intron Del A - uc010nrn.1 GPC3_uc004exd.1... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 SIMA_AUTONOMIC_... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SIMA_AUTONOMIC_... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C p.M433T 12 14813981 14813981 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP A G uc001rcd.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 SIMA_AUTONOMIC_... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
ILK 11 6630029 6630029 SIMA_AUTONOMIC_... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INPP4B 4 142949830 142949830 SIMA_AUTONOMIC_... 37 3'UTR SNP C T uc003iix.3 INPP4B_uc003iiw... Hybrid_Cap... view
ITGB1 10 33197131 33197134 SIMA_AUTONOMIC_... 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
KALRN p.I2815V 3 124437799 124437799 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP A G uc003ehg.2 KALRN_uc003ehk.... Hybrid_Cap... view
LATS2 13 21620222 21620223 SIMA_AUTONOMIC_... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LMNB2 p.T545M 19 2431857 2431857 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP G A uc002lwa.1 LMNB2_uc010dtc.... Hybrid_Cap... view
MAF 16 79628325 79628325 SIMA_AUTONOMIC_... 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 SIMA_AUTONOMIC_... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 SIMA_AUTONOMIC_... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SIMA_AUTONOMIC_... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SIMA_AUTONOMIC_... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 p.P86R 6 161455395 161455395 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP C G uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap... view
MAP3K4 p.A1199del 6 161519351 161519353 SIMA_AUTONOMIC_... 37 In_Frame_Del Del CTG - uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap...
MAPK14 6 36076371 36076374 SIMA_AUTONOMIC_... 37 3'UTR Del GTGT - uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPK3 p.G102S 16 30133194 30133194 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP C T uc002dws.2 BOLA2_uc010bzb.... Hybrid_Cap... view
MECOM 3 169381262 169381262 SIMA_AUTONOMIC_... 37 5'UTR SNP G C rs10581416 uc011bpj.1 MECOM_uc011bpk.... Hybrid_Cap... view
MLL p.R933W 11 118344671 118344671 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP C T uc001ptb.2 MLL_uc001pta.2_... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 SIMA_AUTONOMIC_... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MTCP1NB X 154292310 154292310 SIMA_AUTONOMIC_... 37 Splice_Site_SNP SNP T A uc004fmy.2 MTCP1_uc004fmz.... Hybrid_Cap... view
MYC p.G301D 8 128752741 128752741 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP G A uc003ysi.2 Hybrid_Cap... view
NCAM1 11 112832307 112832308 SIMA_AUTONOMIC_... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SIMA_AUTONOMIC_... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SIMA_AUTONOMIC_... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NPR1 1 153665919 153665920 SIMA_AUTONOMIC_... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SIMA_AUTONOMIC_... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
ODZ1 p.K2408R X 123517558 123517558 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP T C uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
PAX3 2 223066040 223066040 SIMA_AUTONOMIC_... 37 Intron SNP T C uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap... view
PAX3 2 223158653 223158653 SIMA_AUTONOMIC_... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 SIMA_AUTONOMIC_... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 SIMA_AUTONOMIC_... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PMS1 2 190670539 190670540 SIMA_AUTONOMIC_... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PREX2 8 69143701 69143702 SIMA_AUTONOMIC_... 37 3'UTR Del AT - uc003xxv.1 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 SIMA_AUTONOMIC_... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RBPJ p.P28L 4 26387998 26387998 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP C T uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SIMA_AUTONOMIC_... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROBO2 3 77666937 77666937 SIMA_AUTONOMIC_... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPS6KA2 p.R747C 6 166826288 166826288 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP G A uc003qvd.1 RPS6KA2_uc011eg... Hybrid_Cap... view
SEPT9 17 75494787 75494788 SIMA_AUTONOMIC_... 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
STK25 2 242435659 242435662 SIMA_AUTONOMIC_... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 SIMA_AUTONOMIC_... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TP63 3 189507518 189507519 SIMA_AUTONOMIC_... 37 Intron Ins - AG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TTN 2 179391639 179391640 SIMA_AUTONOMIC_... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.M28857T 2 179411978 179411978 SIMA_AUTONOMIC_... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SIMA_AUTONOMIC_... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...