Annotation Summary for Cell Line: KP-N-YN  

Cell line primary name: KP-N-YN
Cell line aliases:
Gender:
Site Primary: autonomic_ganglia
Histology: neuroblastoma
Hist Subtype1: NS
Notes:
Source: HSRRB
Expression arrays: MAKER_p_NCLE_RNA7_HG-U133_Plus_2_A05_454774
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_B11_437552
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KP-N-YN

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABL2 p.K957R 1 179077532 179077532 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP T C uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ABL2 p.G1037R 1 179077293 179077293 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP C G uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ADAM28 8 24211994 24211997 KPNYN_AUTONOMIC... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 KPNYN_AUTONOMIC... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 14 33201982 33201983 KPNYN_AUTONOMIC... 37 Intron Ins - T rs71868172 uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap...
ALPK1 4 113347609 113347610 KPNYN_AUTONOMIC... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALS2 2 202587706 202587707 KPNYN_AUTONOMIC... 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
ARHGEF7 p.E218D 13 111870148 111870148 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP G C uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 KPNYN_AUTONOMIC... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
AURKC 19 57742494 57742507 KPNYN_AUTONOMIC... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BIRC6 p.F1384L 2 32667437 32667437 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP T A rs117475557 uc010ezu.2 Hybrid_Cap... view
CACNB2 10 18828721 18828722 KPNYN_AUTONOMIC... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDC42BPA p.P1648A 1 227182610 227182610 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP G C uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDK11B p.K127_splice 1 1647893 1647894 KPNYN_AUTONOMIC... 37 Splice_Site_Ins Ins - TTTCTT rs114930018 uc001agv.1 CDK11B_uc001ags... Hybrid_Cap...
CDK5 7 150754961 150754961 KPNYN_AUTONOMIC... 37 5'UTR SNP G T uc003wir.1 CDK5_uc003wis.1... Hybrid_Cap... view
CHIC2 4 54876132 54876132 KPNYN_AUTONOMIC... 37 3'UTR Del C - rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 KPNYN_AUTONOMIC... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CTNNB1 3 41275492 41275492 KPNYN_AUTONOMIC... 37 Intron SNP G A uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
CUBN p.R651G 10 17127755 17127755 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP G C rs117275869 uc001ioo.2 Hybrid_Cap... view
CYLD 16 50821593 50821593 KPNYN_AUTONOMIC... 37 Intron SNP G T uc002egp.1 CYLD_uc010cbs.1... Hybrid_Cap... view
CYP1A2 p.T438I 15 75047191 75047191 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP C T rs45486893 uc002ayr.1 Hybrid_Cap... view
EGF p.E1134fs 4 110932389 110932390 KPNYN_AUTONOMIC... 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EIF3H 8 117768048 117768048 KPNYN_AUTONOMIC... 37 Intron SNP G C uc003yob.2 EIF3H_uc003yoa.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 KPNYN_AUTONOMIC... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERC1 12 1137018 1137020 KPNYN_AUTONOMIC... 37 5'UTR Del TTG - uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap...
ESR2 14 64694081 64694081 KPNYN_AUTONOMIC... 37 3'UTR SNP T G uc001xgu.2 ESR2_uc001xgv.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 KPNYN_AUTONOMIC... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
EWSR1 p.P562L 22 29695313 29695313 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP C T uc003aev.2 EWSR1_uc003aet.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 KPNYN_AUTONOMIC... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 KPNYN_AUTONOMIC... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 KPNYN_AUTONOMIC... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
GATS 7 99798851 99798851 KPNYN_AUTONOMIC... 37 3'UTR SNP C A uc003uua.3 STAG3_uc010lgs.... Hybrid_Cap... view
GPC3 X 132888208 132888208 KPNYN_AUTONOMIC... 37 Intron Del A - uc010nrn.1 GPC3_uc004exd.1... Hybrid_Cap...
GRIA3 X 122318386 122318387 KPNYN_AUTONOMIC... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 KPNYN_AUTONOMIC... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC3 5 141016375 141016375 KPNYN_AUTONOMIC... 37 5'UTR SNP G A uc003llf.2 HDAC3_uc003lle.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 KPNYN_AUTONOMIC... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 KPNYN_AUTONOMIC... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB1 10 33197131 33197134 KPNYN_AUTONOMIC... 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITGB4 17 73732894 73732894 KPNYN_AUTONOMIC... 37 Intron SNP G T uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 KPNYN_AUTONOMIC... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JUND 19 18391240 18391241 KPNYN_AUTONOMIC... 37 3'UTR Del CG - uc002nip.2 Hybrid_Cap...
KLK7 19 51480672 51480675 KPNYN_AUTONOMIC... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LGR5 12 71978607 71978607 KPNYN_AUTONOMIC... 37 3'UTR SNP T A uc001swl.2 LGR5_uc001swm.2... Hybrid_Cap... view
LNX2 p.L197F 13 28143232 28143232 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP G A uc001url.3 LNX2_uc001urm.1... Hybrid_Cap... view
MAML3 p.G1106R 4 140640563 140640563 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP C G uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 KPNYN_AUTONOMIC... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KPNYN_AUTONOMIC... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K2 2 128065065 128065067 KPNYN_AUTONOMIC... 37 3'UTR Del TCT - uc002toj.1 Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 KPNYN_AUTONOMIC... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MLLT3 9 20346306 20346306 KPNYN_AUTONOMIC... 37 3'UTR SNP T A uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap... view
MYLK 3 123332876 123332876 KPNYN_AUTONOMIC... 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 KPNYN_AUTONOMIC... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KPNYN_AUTONOMIC... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.QQQ1272del 20 46279815 46279823 KPNYN_AUTONOMIC... 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 KPNYN_AUTONOMIC... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NF1 p.R461* 17 29533378 29533378 KPNYN_AUTONOMIC... 37 Nonsense_Mutation SNP C T uc002hgg.2 NF1_uc002hge.1_... Hybrid_Cap... view
NFKB1 p.D917_splice 4 103534740 103534741 KPNYN_AUTONOMIC... 37 Splice_Site_Ins Ins - A rs35795162 uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap...
NIN p.E87K 14 51273461 51273461 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP C T uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NPR1 1 153665919 153665920 KPNYN_AUTONOMIC... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KPNYN_AUTONOMIC... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUAK2 p.L34I 1 205290657 205290657 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP G T uc001hce.2 Hybrid_Cap... view
PAX3 2 223066017 223066018 KPNYN_AUTONOMIC... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 KPNYN_AUTONOMIC... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PGR 11 100933598 100933599 KPNYN_AUTONOMIC... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 KPNYN_AUTONOMIC... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTK2 p.L1068P 8 141669587 141669587 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP A G uc003yvt.2 PTK2_uc011ljp.1... Hybrid_Cap... view
RIOK3 18 21033297 21033297 KPNYN_AUTONOMIC... 37 5'UTR SNP T C uc002kui.3 RIOK3_uc010dls.... Hybrid_Cap... view
ROBO2 p.G907R 3 77644316 77644316 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP G A uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
ROS1 p.W133R 6 117725484 117725484 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP A G uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 KPNYN_AUTONOMIC... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SEMA5B p.P1095S 3 122629701 122629701 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP G A uc003efz.1 SEMA5B_uc011bju... Hybrid_Cap... view
SP140 2 231177403 231177403 KPNYN_AUTONOMIC... 37 3'UTR SNP G A uc002vql.2 SP140_uc010zma.... Hybrid_Cap... view
SPTAN1 p.R1637L 9 131374392 131374392 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP G T uc004bvm.3 SPTAN1_uc004bvl... Hybrid_Cap... view
STK31 7 23872024 23872025 KPNYN_AUTONOMIC... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TMEM123 11 102269398 102269398 KPNYN_AUTONOMIC... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP63 3 189507518 189507519 KPNYN_AUTONOMIC... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPM6 9 77502838 77502838 KPNYN_AUTONOMIC... 37 5'UTR SNP G A uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 KPNYN_AUTONOMIC... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TSC2 p.R1159W 16 2130243 2130243 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP C T rs45517295 uc002con.2 TSC2_uc010bsd.2... Hybrid_Cap... view
TTN 2 179391639 179391640 KPNYN_AUTONOMIC... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.T28268P 2 179413847 179413847 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP T G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.G8264W 2 179574524 179574524 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBR5 p.R1907H 8 103293724 103293724 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP C T uc003ykr.1 UBR5_uc003yks.1... Hybrid_Cap... view
ULK2 p.R230K 17 19744817 19744817 KPNYN_AUTONOMIC... 37 Missense_Mutation SNP C T uc002gwm.3 ULK2_uc002gwn.2... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 KPNYN_AUTONOMIC... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...