Annotation Summary for Cell Line: KS-1  

Cell line primary name: KS-1
Cell line aliases:
Gender: F
Site Primary: central_nervous_system
Histology: glioma
Hist Subtype1: astrocytoma_Grade_IV
Notes:
Source: HSRRB
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_C10_296056
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_E08_293390
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KS-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 KS1_CENTRAL_NER... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM22 p.Q574H 7 87778372 87778372 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G T uc003ujp.1 ADAM22_uc003ujk... Hybrid_Cap... view
ADAM28 8 24211994 24211997 KS1_CENTRAL_NER... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTSL3 p.W768R 15 84611532 84611532 KS1_CENTRAL_NER... 37 Missense_Mutation SNP T C uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
AIM1 p.T1445S 6 107001415 107001415 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C G uc003prh.2 AIM1_uc003pri.2... Hybrid_Cap... view
ALPK1 4 113347609 113347610 KS1_CENTRAL_NER... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ATM p.K792_splice 11 108128334 108128334 KS1_CENTRAL_NER... 37 Splice_Site_SNP SNP G T uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
AURKC 19 57742531 57742532 KS1_CENTRAL_NER... 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
AXIN1 16 337991 337991 KS1_CENTRAL_NER... 37 3'UTR SNP A G uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap... view
BCL11A p.H33H 2 60773392 60773392 KS1_CENTRAL_NER... 37 Silent SNP G A uc002sae.1 BCL11A_uc002sab... Hybrid_Cap... view
BLNK p.R227Q 10 97969660 97969660 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap... view
BRDT p.R6Q 1 92428328 92428328 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G A rs56273490 uc010osz.1 BRDT_uc001dok.3... Hybrid_Cap... view
BUB1 2 111395468 111395468 KS1_CENTRAL_NER... 37 3'UTR Del A - uc002tgc.2 BUB1_uc010yxh.1... Hybrid_Cap...
CACNB2 10 18828721 18828722 KS1_CENTRAL_NER... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CBL p.S217C 11 119144637 119144637 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C G uc001pwe.2 Hybrid_Cap... view
CDC42BPB p.E752K 14 103434682 103434682 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc001ymi.1 Hybrid_Cap... view
CDH2 p.G328A 18 25582998 25582998 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C G uc002kwg.2 CDH2_uc010xbn.1... Hybrid_Cap... view
CDH3 16 68732445 68732445 KS1_CENTRAL_NER... 37 3'UTR SNP C T uc002ewf.2 CDH3_uc010vli.1... Hybrid_Cap... view
CDK11B 1 1654066 1654068 KS1_CENTRAL_NER... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHRNA5 15 78885615 78885616 KS1_CENTRAL_NER... 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CIC p.N702S 19 42795025 42795025 KS1_CENTRAL_NER... 37 Missense_Mutation SNP A G uc002otf.1 Hybrid_Cap... view
CLK2 p.S24R 1 155240697 155240697 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G T uc001fjy.2 RAG1AP1_uc010pe... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 KS1_CENTRAL_NER... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 KS1_CENTRAL_NER... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTNNA2 p.M183I 2 80097025 80097025 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G T uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CUBN p.R651G 10 17127755 17127755 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G C rs117275869 uc001ioo.2 Hybrid_Cap... view
CYP1A2 15 75042078 75042078 KS1_CENTRAL_NER... 37 5'UTR SNP A C uc002ayr.1 Hybrid_Cap... view
DLL1 p.R430H 6 170593078 170593078 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc003qxm.2 Hybrid_Cap... view
DST p.R1193H 6 56497780 56497780 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DUSP6 p.P188L 12 89744640 89744640 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G A uc001tay.2 DUSP6_uc001taz.... Hybrid_Cap... view
DYRK1B p.K145R 19 40320606 40320606 KS1_CENTRAL_NER... 37 Missense_Mutation SNP T C uc002omj.2 DYRK1B_uc002omi... Hybrid_Cap... view
EIF4B p.G25G 12 53410318 53410318 KS1_CENTRAL_NER... 37 Silent SNP G T uc010snu.1 EIF4B_uc009zmp.... Hybrid_Cap... view
ELN 7 73483053 73483053 KS1_CENTRAL_NER... 37 3'UTR SNP C T uc003tzw.2 RFC2_uc011kfa.1... Hybrid_Cap... view
EPHA6 3 97367230 97367231 KS1_CENTRAL_NER... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB2 p.R568W 1 23222908 23222908 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc009vqj.1 EPHB2_uc001bge.... Hybrid_Cap... view
ETV1 7 14028708 14028708 KS1_CENTRAL_NER... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
F8 p.V1511I X 154157534 154157534 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc004fmt.2 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 KS1_CENTRAL_NER... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 KS1_CENTRAL_NER... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT4 5 180035183 180035185 KS1_CENTRAL_NER... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FN1 2 216244182 216244185 KS1_CENTRAL_NER... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FN1 p.G595V 2 216284000 216284000 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C A uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FOXP1 p.E670Q 3 71008424 71008424 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C G uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap... view
FOXP1 p.N444S 3 71026996 71026996 KS1_CENTRAL_NER... 37 Missense_Mutation SNP T C uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap... view
GLYATL2 p.V55I 11 58605757 58605757 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc001nnd.3 GLYATL2_uc009ym... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 KS1_CENTRAL_NER... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 KS1_CENTRAL_NER... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 KS1_CENTRAL_NER... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HEPH p.D571H X 65417725 65417725 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G C rs3747359 uc011moz.1 HEPH_uc004dwn.2... Hybrid_Cap... view
HIF1A 14 62213929 62213930 KS1_CENTRAL_NER... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 KS1_CENTRAL_NER... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 KS1_CENTRAL_NER... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
HSPA1A p.G615S 6 31785376 31785376 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G A uc003nxj.2 HSPA1L_uc003nxh... Hybrid_Cap... view
HSPA4 p.L432R 5 132425304 132425304 KS1_CENTRAL_NER... 37 Missense_Mutation SNP T G uc003kyj.2 Hybrid_Cap... view
IGF1R 15 99192755 99192763 KS1_CENTRAL_NER... 37 5'UTR Del TTTTT... - uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap...
ILK 11 6630029 6630029 KS1_CENTRAL_NER... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB1 10 33197131 33197134 KS1_CENTRAL_NER... 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 KS1_CENTRAL_NER... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 KS1_CENTRAL_NER... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS1 p.I220V 6 150005567 150005567 KS1_CENTRAL_NER... 37 Missense_Mutation SNP T C uc003qmu.1 LATS1_uc010kif.... Hybrid_Cap... view
LATS2 p.R759W 13 21557570 21557570 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G A uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap... view
LATS2 13 21620222 21620223 KS1_CENTRAL_NER... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
MAF 16 79628537 79628537 KS1_CENTRAL_NER... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 KS1_CENTRAL_NER... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KS1_CENTRAL_NER... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK14 6 36076345 36076354 KS1_CENTRAL_NER... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 KS1_CENTRAL_NER... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42117917 42117917 KS1_CENTRAL_NER... 37 3'UTR SNP C A rs3743027 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap... view
MARK3 p.T124I 14 103918279 103918279 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc001ymz.3 MARK3_uc001ymx.... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 KS1_CENTRAL_NER... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYST4 p.E1104del 10 76781906 76781908 KS1_CENTRAL_NER... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
MYST4 p.S1229G 10 76788267 76788267 KS1_CENTRAL_NER... 37 Missense_Mutation SNP A G uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 KS1_CENTRAL_NER... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KS1_CENTRAL_NER... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK11 p.R114* 3 130828650 130828650 KS1_CENTRAL_NER... 37 Nonsense_Mutation SNP C T uc003eny.2 NEK11_uc003enx.... Hybrid_Cap... view
NF1 p.R192* 17 29497003 29497003 KS1_CENTRAL_NER... 37 Nonsense_Mutation SNP C T uc002hgg.2 NF1_uc002hge.1_... Hybrid_Cap... view
NPM1 5 170837734 170837734 KS1_CENTRAL_NER... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 KS1_CENTRAL_NER... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KS1_CENTRAL_NER... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRK p.S238_splice X 105144610 105144610 KS1_CENTRAL_NER... 37 Splice_Site_SNP SNP G T uc004emd.2 NRK_uc010npc.1_... Hybrid_Cap... view
NYNRIN p.I1491L 14 24885426 24885426 KS1_CENTRAL_NER... 37 Missense_Mutation SNP A C uc001wpf.3 Hybrid_Cap... view
OBSCN p.G539E 1 228402587 228402587 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAPPA p.N165K 9 118949512 118949512 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C A uc004bjn.2 PAPPA_uc011lxp.... Hybrid_Cap... view
PAX3 2 223066017 223066018 KS1_CENTRAL_NER... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDK1 2 173460743 173460743 KS1_CENTRAL_NER... 37 3'UTR SNP A G rs70937078 uc002uhq.1 PDK1_uc010zdz.1... Hybrid_Cap... view
PDK4 7 95221928 95221928 KS1_CENTRAL_NER... 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PGR 11 100933598 100933599 KS1_CENTRAL_NER... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIGU 20 33148599 33148599 KS1_CENTRAL_NER... 37 3'UTR SNP G A uc002xas.2 PIGU_uc010zul.1... Hybrid_Cap... view
PIK3C2A 11 17111198 17111199 KS1_CENTRAL_NER... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 KS1_CENTRAL_NER... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKHD1 p.C843F 6 51910866 51910866 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C A uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PPARD p.A264T 6 35392268 35392268 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G A uc003okm.2 PPARD_uc003okl.... Hybrid_Cap... view
PRCC p.D214H 1 156756523 156756523 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G C uc001fqa.2 PRCC_uc001fqb.2... Hybrid_Cap... view
PRKACG p.K193R 9 71628431 71628431 KS1_CENTRAL_NER... 37 Missense_Mutation SNP T C uc004agy.2 Hybrid_Cap... view
PTK6 p.P387S 20 62161440 62161440 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G A uc002yfg.2 PTK6_uc011aay.1... Hybrid_Cap... view
PTPRD p.R232C 9 8521544 8521544 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G A uc003zkk.2 PTPRD_uc003zkp.... Hybrid_Cap... view
RABEP1 17 5281588 5281588 KS1_CENTRAL_NER... 37 Intron SNP T A uc002gbm.3 RABEP1_uc010cld... Hybrid_Cap... view
RBPJ 4 26431822 26431822 KS1_CENTRAL_NER... 37 Intron Del A - rs76214390 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 KS1_CENTRAL_NER... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RGL4 22 24034417 24034418 KS1_CENTRAL_NER... 37 Intron Ins - C uc002zxn.2 LOC91316_uc002z... Hybrid_Cap...
ROR2 p.G49V 9 94538052 94538052 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C A uc004arj.1 ROR2_uc004ari.1... Hybrid_Cap... view
RPS6KB1 17 58024224 58024225 KS1_CENTRAL_NER... 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
SDHD p.R38* 11 111958640 111958640 KS1_CENTRAL_NER... 37 Nonsense_Mutation SNP C T rs80338843 uc001pmz.2 TIMM8B_uc001pmx... Hybrid_Cap... view
SEPT3 22 42390893 42390893 KS1_CENTRAL_NER... 37 Intron SNP G C uc003bbr.3 WBP2NL_uc011ape... Hybrid_Cap... view
SGK3 8 67771945 67771945 KS1_CENTRAL_NER... 37 3'UTR Del A - uc003xwr.2 SGK3_uc003xwp.2... Hybrid_Cap...
STK10 p.R8H 5 171615024 171615024 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc003mbo.1 Hybrid_Cap... view
STK31 7 23872024 23872025 KS1_CENTRAL_NER... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 KS1_CENTRAL_NER... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TFRC p.K241fs 3 195796404 195796404 KS1_CENTRAL_NER... 37 Frame_Shift_Del Del T - uc003fvz.3 TFRC_uc003fwa.3... Hybrid_Cap...
TG p.P2458S 8 134107420 134107420 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc003ytw.2 TG_uc010mdw.2_M... Hybrid_Cap... view
TMEM123 11 102269398 102269398 KS1_CENTRAL_NER... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMEM123 11 102269562 102269562 KS1_CENTRAL_NER... 37 3'UTR SNP A G uc001pha.2 TMEM123_uc009yx... Hybrid_Cap... view
TP53BP1 p.S227F 15 43771703 43771703 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G A uc001zrr.3 TP53BP1_uc010ud... Hybrid_Cap... view
TP63 3 189507518 189507519 KS1_CENTRAL_NER... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TPM3 1 154140373 154140373 KS1_CENTRAL_NER... 37 3'UTR SNP T C uc001fec.1 TPM3_uc001fdx.1... Hybrid_Cap... view
TRPS1 8 116635872 116635873 KS1_CENTRAL_NER... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 KS1_CENTRAL_NER... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.T28466A 2 179413253 179413253 KS1_CENTRAL_NER... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.I21917S 2 179437405 179437405 KS1_CENTRAL_NER... 37 Missense_Mutation SNP A C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.N4069Y 2 179598083 179598083 KS1_CENTRAL_NER... 37 Missense_Mutation SNP T A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R1350H 2 179643760 179643760 KS1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBE3B 12 109947357 109947358 KS1_CENTRAL_NER... 37 Intron Ins - T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 KS1_CENTRAL_NER... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZNF521 p.P516S 18 22806336 22806336 KS1_CENTRAL_NER... 37 Missense_Mutation SNP G A rs114749105 uc002kvk.2 ZNF521_uc010xbe... Hybrid_Cap... view