Annotation Summary for Cell Line: KALS-1  

Cell line primary name: KALS-1
Cell line aliases:
Gender: F
Site Primary: central_nervous_system
Histology: glioma
Hist Subtype1: NS
Notes:
Source: HSRRB
Expression arrays: BUNDS_p_NCLE_RNA5_HG-U133_Plus_2_E10_419776
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_C02_437550
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KALS-1

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 KALS1_CENTRAL_N... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 KALS1_CENTRAL_N... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADCK1 14 78390632 78390637 KALS1_CENTRAL_N... 37 Intron Del AAACT... - rs78274857;rs74969652 uc001xui.2 ADCK1_uc010tvo.... Hybrid_Cap...
ALPK1 4 113347609 113347610 KALS1_CENTRAL_N... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 KALS1_CENTRAL_N... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
AURKC 19 57742494 57742507 KALS1_CENTRAL_N... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BIRC2 p.S152A 11 102221039 102221039 KALS1_CENTRAL_N... 37 Missense_Mutation SNP T G uc001pgy.2 BIRC2_uc010ruq.... Hybrid_Cap... view
BMX p.A538T X 15561194 15561194 KALS1_CENTRAL_N... 37 Missense_Mutation SNP G A uc004cww.2 BMX_uc004cwx.3_... Hybrid_Cap... view
BTG1 12 92537707 92537707 KALS1_CENTRAL_N... 37 3'UTR Del T - uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CACNB2 10 18828721 18828722 KALS1_CENTRAL_N... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDKN2C p.Q157P 1 51439905 51439905 KALS1_CENTRAL_N... 37 Missense_Mutation SNP A C uc001csf.2 CDKN2C_uc001csg... Hybrid_Cap... view
CHD5 p.I1543F 1 6184080 6184080 KALS1_CENTRAL_N... 37 Missense_Mutation SNP T A uc001amb.1 CHD5_uc001alz.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 KALS1_CENTRAL_N... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 KALS1_CENTRAL_N... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
DYRK4 p.K158Q 12 4702176 4702176 KALS1_CENTRAL_N... 37 Missense_Mutation SNP A C uc009zeh.1 DYRK4_uc001qmx.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 KALS1_CENTRAL_N... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERC1 p.D1055N 12 1553866 1553866 KALS1_CENTRAL_N... 37 Missense_Mutation SNP G A uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 KALS1_CENTRAL_N... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 KALS1_CENTRAL_N... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLT4 5 180035183 180035185 KALS1_CENTRAL_N... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 KALS1_CENTRAL_N... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 KALS1_CENTRAL_N... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 KALS1_CENTRAL_N... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GLG1 16 74486179 74486179 KALS1_CENTRAL_N... 37 Intron SNP G A uc002fcx.2 GLG1_uc002fcy.3... Hybrid_Cap... view
GLI3 p.R792Q 7 42007250 42007250 KALS1_CENTRAL_N... 37 Missense_Mutation SNP C T uc011kbh.1 GLI3_uc011kbg.1... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 KALS1_CENTRAL_N... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 KALS1_CENTRAL_N... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
HIF1A 14 62213929 62213930 KALS1_CENTRAL_N... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 KALS1_CENTRAL_N... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 KALS1_CENTRAL_N... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR1 p.G1057G 3 4725106 4725106 KALS1_CENTRAL_N... 37 Silent SNP C T uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 KALS1_CENTRAL_N... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 KALS1_CENTRAL_N... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS2 13 21620222 21620223 KALS1_CENTRAL_N... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LRP1B p.D3698N 2 141122269 141122269 KALS1_CENTRAL_N... 37 Missense_Mutation SNP C T uc002tvj.1 Hybrid_Cap... view
MAF 16 79628537 79628537 KALS1_CENTRAL_N... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 KALS1_CENTRAL_N... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 KALS1_CENTRAL_N... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KALS1_CENTRAL_N... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K5 6 136878752 136878752 KALS1_CENTRAL_N... 37 3'UTR Del T - rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MAPK10 p.V44I 4 87080557 87080557 KALS1_CENTRAL_N... 37 Missense_Mutation SNP C T uc003hpq.2 MAPK10_uc010ikg... Hybrid_Cap... view
MAPK7 p.A665T 17 19285609 19285609 KALS1_CENTRAL_N... 37 Missense_Mutation SNP G A uc002gvn.2 MAPK7_uc002gvo.... Hybrid_Cap... view
MLKL 16 74706315 74706315 KALS1_CENTRAL_N... 37 3'UTR SNP T C uc002fdb.2 MLKL_uc002fdc.2... Hybrid_Cap... view
MMP20 p.L407F 11 102464198 102464198 KALS1_CENTRAL_N... 37 Missense_Mutation SNP G A uc001phc.2 Hybrid_Cap... view
MTCP1 p.Q46K X 154294034 154294034 KALS1_CENTRAL_N... 37 Missense_Mutation SNP G T uc004fmz.2 MTCP1NB_uc004fm... Hybrid_Cap... view
MTOR p.R1208C 1 11270903 11270903 KALS1_CENTRAL_N... 37 Missense_Mutation SNP G A uc001asd.2 Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 KALS1_CENTRAL_N... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NAV3 p.R2206S 12 78593212 78593212 KALS1_CENTRAL_N... 37 Missense_Mutation SNP C A uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NAV3 12 78604325 78604326 KALS1_CENTRAL_N... 37 3'UTR Del TT - uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap...
NCAM1 11 112832340 112832340 KALS1_CENTRAL_N... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA4 p.Q21K 10 51579154 51579154 KALS1_CENTRAL_N... 37 Missense_Mutation SNP C A uc009xon.2 PARG_uc001jih.2... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 KALS1_CENTRAL_N... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK5 p.P569A 13 52650222 52650222 KALS1_CENTRAL_N... 37 Missense_Mutation SNP G C uc001vge.2 Hybrid_Cap... view
NF1 p.D2635fs 17 29684320 29684320 KALS1_CENTRAL_N... 37 Frame_Shift_Del Del G - uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap...
NFIA p.P497L 1 61872334 61872334 KALS1_CENTRAL_N... 37 Missense_Mutation SNP C T uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap... view
NPM1 5 170837734 170837734 KALS1_CENTRAL_N... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 KALS1_CENTRAL_N... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 KALS1_CENTRAL_N... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KALS1_CENTRAL_N... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223066017 223066018 KALS1_CENTRAL_N... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.E391E 1 144921856 144921856 KALS1_CENTRAL_N... 37 Silent SNP C T uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA 4 55131002 55131002 KALS1_CENTRAL_N... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PDGFRB p.E1069K 5 149495442 149495442 KALS1_CENTRAL_N... 37 Missense_Mutation SNP C T uc003lro.2 CSF1R_uc003lrm.... Hybrid_Cap... view
PIK3R2 p.V129L 19 18271343 18271343 KALS1_CENTRAL_N... 37 Missense_Mutation SNP G T uc002nia.1 PIK3R2_uc002nib... Hybrid_Cap... view
PKN1 p.P593P 19 14578406 14578406 KALS1_CENTRAL_N... 37 Silent SNP C T uc002myq.2 PKN1_uc002myp.2... Hybrid_Cap... view
PLCG1 p.G11C 20 39766312 39766312 KALS1_CENTRAL_N... 37 Missense_Mutation SNP G T uc002xjo.1 PLCG1_uc002xjp.... Hybrid_Cap... view
PMS1 2 190670539 190670540 KALS1_CENTRAL_N... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 KALS1_CENTRAL_N... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTEN p.R130* 10 89692904 89692904 KALS1_CENTRAL_N... 37 Nonsense_Mutation SNP C T uc001kfb.2 Hybrid_Cap... view
PTPRD p.L770V 9 8499661 8499661 KALS1_CENTRAL_N... 37 Missense_Mutation SNP G C uc003zkk.2 PTPRD_uc003zkp.... Hybrid_Cap... view
RAPGEF2 p.Y1215C 4 160274674 160274674 KALS1_CENTRAL_N... 37 Missense_Mutation SNP A G uc003iqg.3 Hybrid_Cap... view
RBM15 p.K914R 1 110884768 110884768 KALS1_CENTRAL_N... 37 Missense_Mutation SNP A G uc001dzl.1 RBM15_uc001dzm.... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 KALS1_CENTRAL_N... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RICTOR 5 38971760 38971760 KALS1_CENTRAL_N... 37 Intron SNP C T uc003jlo.2 RICTOR_uc003jlp... Hybrid_Cap... view
ROBO2 3 77666937 77666937 KALS1_CENTRAL_N... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPS6KA5 14 91360733 91360734 KALS1_CENTRAL_N... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 KALS1_CENTRAL_N... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SMO 7 128852298 128852298 KALS1_CENTRAL_N... 37 3'UTR SNP C G uc003vor.2 SMO_uc003vos.2_... Hybrid_Cap... view
STAT6 p.A439S 12 57498291 57498291 KALS1_CENTRAL_N... 37 Missense_Mutation SNP C A uc009zpg.2 STAT6_uc009zpe.... Hybrid_Cap... view
TAB2 p.R619Q 6 149719196 149719196 KALS1_CENTRAL_N... 37 Missense_Mutation SNP G A uc003qmj.2 TAB2_uc011eec.1... Hybrid_Cap... view
TCF3 p.A58S 19 1627399 1627399 KALS1_CENTRAL_N... 37 Missense_Mutation SNP C A uc002ltq.2 TCF3_uc002ltt.3... Hybrid_Cap... view
TEC 4 48139307 48139310 KALS1_CENTRAL_N... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 KALS1_CENTRAL_N... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TMEM123 11 102269398 102269398 KALS1_CENTRAL_N... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.S241F 17 7577559 7577559 KALS1_CENTRAL_N... 37 Missense_Mutation SNP G A rs28934573 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRPS1 8 116635872 116635873 KALS1_CENTRAL_N... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 KALS1_CENTRAL_N... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.A16835P 2 179458913 179458913 KALS1_CENTRAL_N... 37 Missense_Mutation SNP C G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.G15687V 2 179468650 179468650 KALS1_CENTRAL_N... 37 Missense_Mutation SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 KALS1_CENTRAL_N... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...