Annotation Summary for Cell Line: AM-38  

Cell line primary name: AM-38
Cell line aliases:
Gender: M
Site Primary: central_nervous_system
Histology: glioma
Hist Subtype1: astrocytoma_Grade_IV
Notes:
Source: HSRRB
Expression arrays: BUNDS_p_NCLE_RNA5_HG-U133_Plus_2_F12_419810
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_C08_437504
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in AM-38

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 AM38_CENTRAL_NE... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACVR2A p.R200K 2 148672830 148672830 AM38_CENTRAL_NE... 37 Missense_Mutation SNP G A uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap... view
ADAM28 8 24211994 24211997 AM38_CENTRAL_NE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 AM38_CENTRAL_NE... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 AM38_CENTRAL_NE... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALK p.S737L 2 29462691 29462691 AM38_CENTRAL_NE... 37 Missense_Mutation SNP G A uc002rmy.2 Hybrid_Cap... view
ALPK1 4 113347609 113347610 AM38_CENTRAL_NE... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALS2 2 202587706 202587707 AM38_CENTRAL_NE... 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
AURKC p.K289T 19 57746721 57746721 AM38_CENTRAL_NE... 37 Missense_Mutation SNP A C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap... view
BCL3 19 45262891 45262891 AM38_CENTRAL_NE... 37 3'UTR SNP T C uc010xxe.1 Hybrid_Cap... view
BRAF p.V600E 7 140453136 140453136 AM38_CENTRAL_NE... 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
BTG1 12 92537706 92537707 AM38_CENTRAL_NE... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
BTRC p.L95S 10 103239174 103239174 AM38_CENTRAL_NE... 37 Missense_Mutation SNP T C uc001kta.2 BTRC_uc001ksz.1... Hybrid_Cap... view
CACNB2 10 18828721 18828722 AM38_CENTRAL_NE... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 AM38_CENTRAL_NE... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CASP1 11 104896805 104896805 AM38_CENTRAL_NE... 37 Intron SNP C T uc010rve.1 CASP5_uc010ruz.... Hybrid_Cap... view
CCNT1 p.A263S 12 49088210 49088210 AM38_CENTRAL_NE... 37 Missense_Mutation SNP C A uc001rse.1 LOC144438_uc001... Hybrid_Cap... view
CDK11B 1 1654066 1654068 AM38_CENTRAL_NE... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK18 1 205492245 205492245 AM38_CENTRAL_NE... 37 Intron SNP C T uc001hcr.2 CDK18_uc009xbk.... Hybrid_Cap... view
CDX2 p.K248E 13 28537452 28537452 AM38_CENTRAL_NE... 37 Missense_Mutation SNP T C uc001urv.2 Hybrid_Cap... view
CHD5 p.M548T 1 6206431 6206431 AM38_CENTRAL_NE... 37 Missense_Mutation SNP A G uc001amb.1 CHD5_uc001ama.1... Hybrid_Cap... view
CHN1 p.D269N 2 175677118 175677118 AM38_CENTRAL_NE... 37 Missense_Mutation SNP C T uc002uji.2 CHN1_uc010zeq.1... Hybrid_Cap... view
CLTC p.A624V 17 57743917 57743917 AM38_CENTRAL_NE... 37 Missense_Mutation SNP C T uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 AM38_CENTRAL_NE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 AM38_CENTRAL_NE... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 AM38_CENTRAL_NE... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CYP2B6 p.P167A 19 41512824 41512824 AM38_CENTRAL_NE... 37 Missense_Mutation SNP C G rs3826711 uc002opr.1 CYP2A7_uc002opo... Hybrid_Cap... view
DLL1 6 170597629 170597629 AM38_CENTRAL_NE... 37 Intron SNP G A uc003qxm.2 DLL1_uc011ehc.1... Hybrid_Cap... view
EDN1 6 12290729 12290729 AM38_CENTRAL_NE... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
ELN p.V41I 7 73449732 73449732 AM38_CENTRAL_NE... 37 Missense_Mutation SNP G A uc003tzw.2 RFC2_uc011kfa.1... Hybrid_Cap... view
EPHA6 p.I540T 3 97124006 97124006 AM38_CENTRAL_NE... 37 Missense_Mutation SNP T C uc010how.1 Hybrid_Cap... view
EPHA6 3 97367230 97367231 AM38_CENTRAL_NE... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERCC2 19 45854809 45854809 AM38_CENTRAL_NE... 37 3'UTR SNP G T uc002pbj.2 ERCC2_uc002pbh.... Hybrid_Cap... view
FGFR3 4 1809128 1809129 AM38_CENTRAL_NE... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 AM38_CENTRAL_NE... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 AM38_CENTRAL_NE... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 AM38_CENTRAL_NE... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 AM38_CENTRAL_NE... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 AM38_CENTRAL_NE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 AM38_CENTRAL_NE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HEPH p.V158V X 65393483 65393483 AM38_CENTRAL_NE... 37 Silent SNP T G uc011moz.1 HEPH_uc004dwn.2... Hybrid_Cap... view
HNF1A 12 121434630 121434631 AM38_CENTRAL_NE... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 12 104341500 104341500 AM38_CENTRAL_NE... 37 3'UTR SNP T A uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap... view
INHBA 7 41729121 41729122 AM38_CENTRAL_NE... 37 3'UTR Ins - T uc003thq.2 INHBA_uc003thr.... Hybrid_Cap...
ITPR1 p.M1484I 3 4741568 4741568 AM38_CENTRAL_NE... 37 Missense_Mutation SNP G A uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 AM38_CENTRAL_NE... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KALRN p.L1991M 3 124376588 124376588 AM38_CENTRAL_NE... 37 Missense_Mutation SNP C A uc003ehg.2 KALRN_uc003ehi.... Hybrid_Cap... view
KIAA1409 p.K2028R 14 94121728 94121728 AM38_CENTRAL_NE... 37 Missense_Mutation SNP A G rs2296687 uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
LATS2 13 21620222 21620223 AM38_CENTRAL_NE... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
MAF 16 79628537 79628537 AM38_CENTRAL_NE... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 AM38_CENTRAL_NE... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 AM38_CENTRAL_NE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 AM38_CENTRAL_NE... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K12 12 53874956 53874956 AM38_CENTRAL_NE... 37 3'UTR SNP C T uc001sdn.1 MAP3K12_uc001sd... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 AM38_CENTRAL_NE... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 p.A1199del 6 161519351 161519353 AM38_CENTRAL_NE... 37 In_Frame_Del Del CTG - uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 AM38_CENTRAL_NE... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MECOM 3 169381262 169381262 AM38_CENTRAL_NE... 37 5'UTR SNP G C rs10581416 uc011bpj.1 MECOM_uc011bpk.... Hybrid_Cap... view
MSH3 p.E373L 5 79970890 79970892 AM38_CENTRAL_NE... 37 Missense_Mutation TNP TGA CTT uc003kgz.2 Hybrid_Cap...
MTMR11 1 149900711 149900711 AM38_CENTRAL_NE... 37 3'UTR SNP C G uc001etl.3 SF3B4_uc001eti.... Hybrid_Cap... view
MYO18B p.G1819R 22 26317314 26317314 AM38_CENTRAL_NE... 37 Missense_Mutation SNP G C uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
NCAM1 11 112832307 112832308 AM38_CENTRAL_NE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 AM38_CENTRAL_NE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 AM38_CENTRAL_NE... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NCOA3 20 46282339 46282340 AM38_CENTRAL_NE... 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 AM38_CENTRAL_NE... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 AM38_CENTRAL_NE... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NIN p.E442Q 14 51237216 51237216 AM38_CENTRAL_NE... 37 Missense_Mutation SNP C G uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NPR1 1 153665919 153665920 AM38_CENTRAL_NE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 AM38_CENTRAL_NE... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUMA1 p.F2010S 11 71715365 71715365 AM38_CENTRAL_NE... 37 Missense_Mutation SNP A G uc001orl.1 IL18BP_uc009ysu... Hybrid_Cap... view
PAK6 p.P77L 15 40558068 40558068 AM38_CENTRAL_NE... 37 Missense_Mutation SNP C T uc010bbl.2 PAK6_uc010bbm.2... Hybrid_Cap... view
PAX3 2 223066017 223066018 AM38_CENTRAL_NE... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 AM38_CENTRAL_NE... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP 1 144994737 144994737 AM38_CENTRAL_NE... 37 5'UTR SNP G A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PGR 11 100933598 100933599 AM38_CENTRAL_NE... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 AM38_CENTRAL_NE... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2G p.G1006V 12 18656215 18656215 AM38_CENTRAL_NE... 37 Missense_Mutation SNP G T rs17847804 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap... view
PIK3R4 p.E529_splice 3 130447530 130447531 AM38_CENTRAL_NE... 37 Splice_Site_Ins Ins - A rs5852606 uc003enj.2 Hybrid_Cap...
PKHD1 p.G1771D 6 51887667 51887667 AM38_CENTRAL_NE... 37 Missense_Mutation SNP C T uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PRKDC p.G3678V 8 48697747 48697748 AM38_CENTRAL_NE... 37 Missense_Mutation DNP CC TA uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 AM38_CENTRAL_NE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PXDN p.S1358_splice 2 1642752 1642752 AM38_CENTRAL_NE... 37 Splice_Site_SNP SNP T C uc002qxa.2 Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 AM38_CENTRAL_NE... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROBO2 p.P47A 3 77147242 77147242 AM38_CENTRAL_NE... 37 Missense_Mutation SNP C G uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
ROBO2 p.S988R 3 77651458 77651458 AM38_CENTRAL_NE... 37 Missense_Mutation SNP T G uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
ROBO2 3 77666937 77666937 AM38_CENTRAL_NE... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPS6KA5 14 91360733 91360734 AM38_CENTRAL_NE... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KB1 p.N145S 17 58003848 58003848 AM38_CENTRAL_NE... 37 Missense_Mutation SNP A G uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap... view
SERPINB1 p.S68S 6 2838885 2838885 AM38_CENTRAL_NE... 37 Silent SNP T C uc003mub.2 SERPINB1_uc003m... Hybrid_Cap... view
SLC6A8 X 152957656 152957657 AM38_CENTRAL_NE... 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
STK31 7 23872024 23872025 AM38_CENTRAL_NE... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAF1L 9 32630062 32630062 AM38_CENTRAL_NE... 37 3'UTR Del C - uc003zrg.1 Hybrid_Cap...
TEC 4 48139307 48139310 AM38_CENTRAL_NE... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLK1 2 171850178 171850179 AM38_CENTRAL_NE... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 AM38_CENTRAL_NE... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNIK 3 170819553 170819553 AM38_CENTRAL_NE... 37 Intron SNP T C uc003fhh.2 TNIK_uc003fhi.2... Hybrid_Cap... view
TNRC6B 22 40574007 40574008 AM38_CENTRAL_NE... 37 5'UTR Del TC - uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP63 3 189507518 189507519 AM38_CENTRAL_NE... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940211 114940212 AM38_CENTRAL_NE... 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 8 116635872 116635873 AM38_CENTRAL_NE... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TSSK3 p.A236V 1 32829757 32829757 AM38_CENTRAL_NE... 37 Missense_Mutation SNP C T uc001bvf.2 Hybrid_Cap... view
TTN 2 179391639 179391640 AM38_CENTRAL_NE... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.P8374A 2 179572442 179572442 AM38_CENTRAL_NE... 37 Missense_Mutation SNP G C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R297Q 2 179664238 179664238 AM38_CENTRAL_NE... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TUFT1 p.A46V 1 151535062 151535062 AM38_CENTRAL_NE... 37 Missense_Mutation SNP C T uc001eyl.2 TUFT1_uc001eym.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 AM38_CENTRAL_NE... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VRK2 p.D463fs 2 58386688 58386689 AM38_CENTRAL_NE... 37 Frame_Shift_Ins Ins - ACTT uc002rzo.2 VRK2_uc010fcb.2... Hybrid_Cap...
ZAK p.L260V 2 174074490 174074490 AM38_CENTRAL_NE... 37 Missense_Mutation SNP C G uc002uhz.2 ZAK_uc002uhx.2_... Hybrid_Cap... view