Annotation Summary for Cell Line: YH-13  

Cell line primary name: YH-13
Cell line aliases:
Gender: M
Site Primary: central_nervous_system
Histology: glioma
Hist Subtype1: astrocytoma_Grade_IV
Notes:
Source: HSRRB
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_F10_383682
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_F02_410986
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in YH-13

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 YH13_CENTRAL_NE... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACVR1B 12 52380975 52380978 YH13_CENTRAL_NE... 37 Intron Del AAAC - uc010snn.1 ACVR1B_uc001rzl... Hybrid_Cap...
ADAM28 8 24211994 24211997 YH13_CENTRAL_NE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADCK1 14 78390632 78390637 YH13_CENTRAL_NE... 37 Intron Del AAACT... - rs78274857;rs74969652 uc001xui.2 ADCK1_uc010tvo.... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 YH13_CENTRAL_NE... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 YH13_CENTRAL_NE... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 YH13_CENTRAL_NE... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ARID1A 1 27056057 27056058 YH13_CENTRAL_NE... 37 Intron Ins - A uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap...
ATP8B1 p.R384H 18 55359108 55359108 YH13_CENTRAL_NE... 37 Missense_Mutation SNP C T rs2271260 uc002lgw.2 Hybrid_Cap... view
AURKC 19 57742494 57742507 YH13_CENTRAL_NE... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCR 22 23631813 23631814 YH13_CENTRAL_NE... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 YH13_CENTRAL_NE... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BRSK2 11 1481963 1481963 YH13_CENTRAL_NE... 37 3'UTR Del C - uc001ltm.2 BRSK2_uc001lti.... Hybrid_Cap...
BRSK2 11 1482006 1482006 YH13_CENTRAL_NE... 37 3'UTR SNP C T uc001ltm.2 BRSK2_uc001lti.... Hybrid_Cap... view
BTG1 12 92537706 92537707 YH13_CENTRAL_NE... 37 3'UTR Ins - TT rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
BUB1 2 111395451 111395451 YH13_CENTRAL_NE... 37 3'UTR SNP T C uc002tgc.2 BUB1_uc010yxh.1... Hybrid_Cap... view
C9ORF96 p.L631P 9 136270394 136270394 YH13_CENTRAL_NE... 37 Missense_Mutation SNP T C uc004cdk.2 C9orf96_uc004cd... Hybrid_Cap... view
CARD10 p.KE272del 22 37906309 37906314 YH13_CENTRAL_NE... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CHRNA5 15 78885615 78885616 YH13_CENTRAL_NE... 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 YH13_CENTRAL_NE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 YH13_CENTRAL_NE... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CREBBP p.Q2196L 16 3778461 3778461 YH13_CENTRAL_NE... 37 Missense_Mutation SNP T A uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CUBN p.N1644S 10 16994313 16994313 YH13_CENTRAL_NE... 37 Missense_Mutation SNP T C uc001ioo.2 Hybrid_Cap... view
DNAH8 p.P3421S 6 38891888 38891888 YH13_CENTRAL_NE... 37 Missense_Mutation SNP C T uc003ooe.1 Hybrid_Cap... view
DRD2 11 113295527 113295527 YH13_CENTRAL_NE... 37 5'UTR SNP G A uc001pnz.2 DRD2_uc010rwv.1... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 YH13_CENTRAL_NE... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EDN1 6 12290729 12290729 YH13_CENTRAL_NE... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EGF p.E1134fs 4 110932389 110932390 YH13_CENTRAL_NE... 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EP300 22 41574970 41574972 YH13_CENTRAL_NE... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 YH13_CENTRAL_NE... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 YH13_CENTRAL_NE... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FAM132A 1 1177919 1177919 YH13_CENTRAL_NE... 37 3'UTR Del T - uc001adl.1 Hybrid_Cap...
FGFR3 4 1809128 1809129 YH13_CENTRAL_NE... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 YH13_CENTRAL_NE... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 YH13_CENTRAL_NE... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GRIA3 X 122318386 122318387 YH13_CENTRAL_NE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 YH13_CENTRAL_NE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HERC2 p.A568S 15 28511017 28511017 YH13_CENTRAL_NE... 37 Missense_Mutation SNP C A uc001zbj.2 HERC2_uc001zbl.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 YH13_CENTRAL_NE... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IL21R 16 27460779 27460780 YH13_CENTRAL_NE... 37 3'UTR Ins - TG rs66690088 uc002doq.1 IL21R_uc002dor.... Hybrid_Cap...
ILK 11 6630029 6630029 YH13_CENTRAL_NE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB8 7 20449664 20449664 YH13_CENTRAL_NE... 37 3'UTR SNP A G uc003suu.2 ITGB8_uc011jyh.... Hybrid_Cap... view
ITK p.R194H 5 156649958 156649958 YH13_CENTRAL_NE... 37 Missense_Mutation SNP G A uc003lwo.1 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 YH13_CENTRAL_NE... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JUND 19 18391240 18391241 YH13_CENTRAL_NE... 37 3'UTR Del CG - uc002nip.2 Hybrid_Cap...
KIAA2022 p.P1442L X 73960067 73960067 YH13_CENTRAL_NE... 37 Missense_Mutation SNP G A uc004eby.2 Hybrid_Cap... view
KTN1 14 56128216 56128216 YH13_CENTRAL_NE... 37 Intron SNP A G uc001xcb.2 KTN1_uc001xce.2... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 YH13_CENTRAL_NE... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 YH13_CENTRAL_NE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 YH13_CENTRAL_NE... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK14 6 36076345 36076354 YH13_CENTRAL_NE... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MDM4 1 204494610 204494610 YH13_CENTRAL_NE... 37 Splice_Site_SNP SNP A T uc001hba.2 MDM4_uc001hbd.1... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 YH13_CENTRAL_NE... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYO18B 22 26166064 26166064 YH13_CENTRAL_NE... 37 Intron SNP T G uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
MYO3B p.R978C 2 171323139 171323139 YH13_CENTRAL_NE... 37 Missense_Mutation SNP C T uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
MYST4 10 76790933 76790933 YH13_CENTRAL_NE... 37 3'UTR Del T - uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NCAM1 11 112832307 112832308 YH13_CENTRAL_NE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 YH13_CENTRAL_NE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 YH13_CENTRAL_NE... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 YH13_CENTRAL_NE... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NIN 14 51194228 51194231 YH13_CENTRAL_NE... 37 Intron Del ATAA - uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap...
NLRP3 p.G811S 1 247597508 247597508 YH13_CENTRAL_NE... 37 Missense_Mutation SNP G A uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NPR1 1 153665919 153665920 YH13_CENTRAL_NE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 YH13_CENTRAL_NE... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 YH13_CENTRAL_NE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR4A3 9 102596058 102596058 YH13_CENTRAL_NE... 37 Intron SNP A C uc004bai.2 NR4A3_uc004bae.... Hybrid_Cap... view
NYNRIN p.L1388F 14 24885117 24885117 YH13_CENTRAL_NE... 37 Missense_Mutation SNP C T uc001wpf.3 Hybrid_Cap... view
PAX3 2 223066017 223066018 YH13_CENTRAL_NE... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP 1 144863059 144863059 YH13_CENTRAL_NE... 37 Intron SNP C T rs74579974 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDE4DIP p.A1880S 1 144866604 144866604 YH13_CENTRAL_NE... 37 Missense_Mutation SNP C A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PIK3CA p.Q75E 3 178916836 178916836 YH13_CENTRAL_NE... 37 Missense_Mutation SNP C G uc003fjk.2 Hybrid_Cap... view
PIK3R4 p.E529_splice 3 130447530 130447531 YH13_CENTRAL_NE... 37 Splice_Site_Ins Ins - A rs5852606 uc003enj.2 Hybrid_Cap...
POU5F1B p.G307* 8 128429030 128429030 YH13_CENTRAL_NE... 37 Nonsense_Mutation SNP G T uc003ysf.2 LOC727677_uc003... Hybrid_Cap... view
PRKCD p.G146E 3 53215520 53215520 YH13_CENTRAL_NE... 37 Missense_Mutation SNP G A uc003dgl.2 PRKCD_uc003dgm.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 YH13_CENTRAL_NE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751088 52751089 YH13_CENTRAL_NE... 37 5'UTR Ins - GCT rs67900156;rs71029335 uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
PTPRC 1 198608375 198608375 YH13_CENTRAL_NE... 37 5'UTR SNP T C uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap... view
RASGRF1 15 79277150 79277151 YH13_CENTRAL_NE... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
ROBO2 3 77666937 77666937 YH13_CENTRAL_NE... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 YH13_CENTRAL_NE... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SHH 7 155604862 155604862 YH13_CENTRAL_NE... 37 5'UTR SNP C G uc003wmk.1 Hybrid_Cap... view
SOX2 3 181431226 181431227 YH13_CENTRAL_NE... 37 3'UTR Ins - A rs80135245 uc003fkx.2 SOX2OT_uc003fkv... Hybrid_Cap...
STK25 2 242435659 242435662 YH13_CENTRAL_NE... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 YH13_CENTRAL_NE... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK38L 12 27475453 27475453 YH13_CENTRAL_NE... 37 3'UTR SNP G A uc001rhr.2 STK38L_uc001rhs... Hybrid_Cap... view
TACC3 4 1739519 1739527 YH13_CENTRAL_NE... 37 Intron Del GCCAT... - rs114226356 uc003gdo.2 TACC3_uc010ibz.... Hybrid_Cap...
TEC 4 48139307 48139310 YH13_CENTRAL_NE... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TIMP3 22 33255371 33255371 YH13_CENTRAL_NE... 37 3'UTR SNP G A uc003anb.2 SYN3_uc003amx.2... Hybrid_Cap... view
TLK1 2 171850178 171850179 YH13_CENTRAL_NE... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TP63 3 189507518 189507519 YH13_CENTRAL_NE... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TPO p.P515P 2 1488574 1488574 YH13_CENTRAL_NE... 37 Silent SNP C T uc002qww.2 TPO_uc010ewj.2_... Hybrid_Cap... view
TRIM36 5 114513503 114513503 YH13_CENTRAL_NE... 37 Intron SNP G A uc003kqs.2 TRIM36_uc003kqt... Hybrid_Cap... view
TRPS1 8 116635872 116635873 YH13_CENTRAL_NE... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.I32650T 2 179395689 179395689 YH13_CENTRAL_NE... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 YH13_CENTRAL_NE... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B p.T2151I 8 100712083 100712083 YH13_CENTRAL_NE... 37 Missense_Mutation SNP C T uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view
ZNF608 5 124080775 124080776 YH13_CENTRAL_NE... 37 5'UTR Ins - A uc003ktq.1 ZNF608_uc003ktr... Hybrid_Cap...