Annotation Summary for Cell Line: MHH-NB-11  

Cell line primary name: MHH-NB-11
Cell line aliases:
Gender: M
Site Primary: autonomic_ganglia
Histology: neuroblastoma
Hist Subtype1: NS
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_A04_523474
SNP arrays: AWASH_p_NCLE_DNAAffy10_GenomeWideSNP_6_H08_542886
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in MHH-NB-11

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 MHHNB11_AUTONOM... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA 17 35766564 35766564 MHHNB11_AUTONOM... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 MHHNB11_AUTONOM... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 MHHNB11_AUTONOM... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 MHHNB11_AUTONOM... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ARFGEF1 8 68255579 68255579 MHHNB11_AUTONOM... 37 5'UTR SNP G A uc003xxo.1 Hybrid_Cap... view
ARID1A p.Q1367_splice 1 27100390 27100390 MHHNB11_AUTONOM... 37 Splice_Site_SNP SNP G T uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
BCL3 19 45262965 45262968 MHHNB11_AUTONOM... 37 3'UTR Del CCCC - uc010xxe.1 Hybrid_Cap...
BCR 22 23631813 23631814 MHHNB11_AUTONOM... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 MHHNB11_AUTONOM... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
CACNB2 10 18828721 18828722 MHHNB11_AUTONOM... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2D 4 114378474 114378474 MHHNB11_AUTONOM... 37 Intron SNP A G uc003ibo.3 CAMK2D_uc003ibi... Hybrid_Cap... view
CARD11 p.K986M 7 2952983 2952983 MHHNB11_AUTONOM... 37 Missense_Mutation SNP T A uc003smv.2 Hybrid_Cap... view
CARD14 p.A932S 17 78180871 78180871 MHHNB11_AUTONOM... 37 Missense_Mutation SNP G T uc002jxw.1 CARD14_uc002jxt... Hybrid_Cap... view
CDK17 12 96674483 96674483 MHHNB11_AUTONOM... 37 Intron SNP T C uc001tep.1 CDK17_uc009ztk.... Hybrid_Cap... view
CDKN2C p.V130A 1 51439824 51439824 MHHNB11_AUTONOM... 37 Missense_Mutation SNP T C uc001csf.2 CDKN2C_uc001csg... Hybrid_Cap... view
CDX2 p.V306M 13 28537278 28537278 MHHNB11_AUTONOM... 37 Missense_Mutation SNP C T uc001urv.2 Hybrid_Cap... view
CHD5 p.I736V 1 6202503 6202503 MHHNB11_AUTONOM... 37 Missense_Mutation SNP T C uc001amb.1 CHD5_uc001ama.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 MHHNB11_AUTONOM... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 p.V1401I 22 19178938 19178938 MHHNB11_AUTONOM... 37 Missense_Mutation SNP C T uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 MHHNB11_AUTONOM... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSPP1 p.E173_splice 8 68005776 68005776 MHHNB11_AUTONOM... 37 Splice_Site_SNP SNP A T uc003xxi.2 CSPP1_uc003xxg.... Hybrid_Cap... view
DAPK3 19 3969809 3969809 MHHNB11_AUTONOM... 37 5'UTR SNP G A uc002lzc.1 DAPK3_uc002lzd.... Hybrid_Cap... view
DNAH8 6 38952247 38952250 MHHNB11_AUTONOM... 37 Intron Del CACA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
EPHA6 3 97367230 97367231 MHHNB11_AUTONOM... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA6 3 97467610 97467611 MHHNB11_AUTONOM... 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
ETV1 7 14028708 14028708 MHHNB11_AUTONOM... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR3 4 1809128 1809129 MHHNB11_AUTONOM... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 MHHNB11_AUTONOM... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 MHHNB11_AUTONOM... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FZD1 p.93_94insP 7 90894459 90894460 MHHNB11_AUTONOM... 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GRIA3 X 122318386 122318387 MHHNB11_AUTONOM... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
HERC2 p.K73Q 15 28538139 28538139 MHHNB11_AUTONOM... 37 Missense_Mutation SNP T G uc001zbj.2 HERC2_uc001zbl.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 MHHNB11_AUTONOM... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HNRNPH1 5 179048045 179048045 MHHNB11_AUTONOM... 37 Intron SNP G A uc003mkf.3 HNRNPH1_uc003mk... Hybrid_Cap... view
HSP90AA1 p.S16F 14 102605695 102605695 MHHNB11_AUTONOM... 37 Missense_Mutation SNP G A uc001ykv.3 WDR20_uc001yky.... Hybrid_Cap... view
ILK 11 6630029 6630029 MHHNB11_AUTONOM... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
KIAA1804 p.W310C 1 233482312 233482312 MHHNB11_AUTONOM... 37 Missense_Mutation SNP G T uc001hvt.3 KIAA1804_uc001h... Hybrid_Cap... view
KLK7 19 51480672 51480675 MHHNB11_AUTONOM... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LETM2 8 38265796 38265798 MHHNB11_AUTONOM... 37 3'UTR Del ACT - uc003xlm.1 LETM2_uc003xll.... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 MHHNB11_AUTONOM... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 MHHNB11_AUTONOM... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 MHHNB11_AUTONOM... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 MHHNB11_AUTONOM... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 MHHNB11_AUTONOM... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MLLT6 17 36881873 36881873 MHHNB11_AUTONOM... 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 MHHNB11_AUTONOM... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYH11 16 15797783 15797787 MHHNB11_AUTONOM... 37 3'UTR Del TTTTT - uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap...
NCAM1 11 112832307 112832308 MHHNB11_AUTONOM... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 MHHNB11_AUTONOM... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 MHHNB11_AUTONOM... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NFKB1 p.D917_splice 4 103534740 103534741 MHHNB11_AUTONOM... 37 Splice_Site_Ins Ins - A rs35795162 uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap...
NOTCH4 6 32170465 32170465 MHHNB11_AUTONOM... 37 Intron Del G - uc003obb.2 NOTCH4_uc003oba... Hybrid_Cap...
NPRL2 p.N374D 3 50385060 50385060 MHHNB11_AUTONOM... 37 Missense_Mutation SNP T C uc003daj.1 ZMYND10_uc003da... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 MHHNB11_AUTONOM... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUMA1 11 71714392 71714392 MHHNB11_AUTONOM... 37 3'UTR SNP G A uc001orl.1 IL18BP_uc009ysu... Hybrid_Cap... view
OBSCN p.G4978D 1 228509475 228509475 MHHNB11_AUTONOM... 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
P2RX7 p.T106A 12 121593903 121593903 MHHNB11_AUTONOM... 37 Missense_Mutation SNP A G uc001tzm.2 P2RX7_uc001tzn.... Hybrid_Cap... view
PAX3 2 223158653 223158653 MHHNB11_AUTONOM... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.I2090V 1 144859816 144859817 MHHNB11_AUTONOM... 37 Missense_Mutation DNP TG CA rs71264660 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PHIP p.E1577* 6 79655116 79655116 MHHNB11_AUTONOM... 37 Nonsense_Mutation SNP C A uc003pir.2 PHIP_uc003piq.2... Hybrid_Cap... view
PIK3C2G 12 18800990 18800990 MHHNB11_AUTONOM... 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIM1 6 37141993 37141993 MHHNB11_AUTONOM... 37 3'UTR SNP C A uc003onk.2 PIM1_uc011dtw.1... Hybrid_Cap... view
PPAPDC1B 8 38121852 38121853 MHHNB11_AUTONOM... 37 3'UTR Ins - T uc003xlf.3 PPAPDC1B_uc003x... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 MHHNB11_AUTONOM... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RIMS2 8 105264087 105264088 MHHNB11_AUTONOM... 37 3'UTR Ins - AA rs78110727 uc003yls.2 RIMS2_uc003ylp.... Hybrid_Cap...
RPS6KA5 14 91360733 91360734 MHHNB11_AUTONOM... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KC1 p.S144* 1 213290711 213290711 MHHNB11_AUTONOM... 37 Nonsense_Mutation SNP C A uc010ptr.1 RPS6KC1_uc001hk... Hybrid_Cap... view
SEPT9 17 75494787 75494788 MHHNB11_AUTONOM... 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
TLR4 p.R745C 9 120476639 120476639 MHHNB11_AUTONOM... 37 Missense_Mutation SNP C T uc004bjz.2 TLR4_uc004bka.2... Hybrid_Cap... view
TP63 3 189507518 189507519 MHHNB11_AUTONOM... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRRAP p.V2292I 7 98562317 98562317 MHHNB11_AUTONOM... 37 Missense_Mutation SNP G A uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 MHHNB11_AUTONOM... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN p.S3213C 2 179631174 179631174 MHHNB11_AUTONOM... 37 Missense_Mutation SNP T A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 MHHNB11_AUTONOM... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZAP70 2 98351263 98351263 MHHNB11_AUTONOM... 37 Intron SNP T G rs56151201 uc002syd.1 ZAP70_uc010yvf.... Hybrid_Cap... view
ZFYVE9 p.G883V 1 52740158 52740158 MHHNB11_AUTONOM... 37 Missense_Mutation SNP G T uc001cto.2 ZFYVE9_uc001ctp... Hybrid_Cap... view
ZMYND10 3 50378764 50378764 MHHNB11_AUTONOM... 37 3'UTR SNP C A uc003dag.1 RASSF1_uc003dad... Hybrid_Cap... view