Annotation Summary for Cell Line: GI-1  

Cell line primary name: GI-1
Cell line aliases:
Gender: M
Site Primary: central_nervous_system
Histology: glioma
Hist Subtype1: gliosarcoma
Notes:
Source: RIKEN
Expression arrays: BRAKE_p_NCLE_RNA2_HG-U133_Plus_2_F10_241180
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_E12_293398
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in GI-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 GI1_CENTRAL_NER... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABI1 p.I360_splice 10 27047989 27047989 GI1_CENTRAL_NER... 37 Splice_Site_SNP SNP A T uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap... view
ADAM28 8 24211994 24211997 GI1_CENTRAL_NER... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM28 8 24212005 24212005 GI1_CENTRAL_NER... 37 3'UTR SNP A T uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 GI1_CENTRAL_NER... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALS2 2 202587706 202587707 GI1_CENTRAL_NER... 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
ASPH p.E407V 8 62479807 62479807 GI1_CENTRAL_NER... 37 Missense_Mutation SNP T A uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 GI1_CENTRAL_NER... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ATR p.D626E 3 142277473 142277473 GI1_CENTRAL_NER... 37 Missense_Mutation SNP A T uc003eux.3 Hybrid_Cap... view
AURKC 19 57742531 57742532 GI1_CENTRAL_NER... 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BAI3 p.V1427I 6 70092726 70092726 GI1_CENTRAL_NER... 37 Missense_Mutation SNP G A uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
C6ORF97 p.L714R 6 151939275 151939275 GI1_CENTRAL_NER... 37 Missense_Mutation SNP T G uc003qol.2 Hybrid_Cap... view
CACNB2 10 18828721 18828722 GI1_CENTRAL_NER... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 GI1_CENTRAL_NER... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CCL5 17 34199317 34199317 GI1_CENTRAL_NER... 37 3'UTR SNP G A uc002hkf.2 Hybrid_Cap... view
CHRNA5 15 78885615 78885616 GI1_CENTRAL_NER... 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 GI1_CENTRAL_NER... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CPAMD8 p.A1374E 19 17017809 17017809 GI1_CENTRAL_NER... 37 Missense_Mutation SNP G T uc002nfb.2 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 GI1_CENTRAL_NER... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CREBBP p.S1680del 16 3781324 3781326 GI1_CENTRAL_NER... 37 In_Frame_Del Del AGG - uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap...
CTBP2 p.A419T 10 126715074 126715074 GI1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CTNNB1 3 41275492 41275492 GI1_CENTRAL_NER... 37 Intron SNP G A uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
DACH1 13 72014625 72014626 GI1_CENTRAL_NER... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DNAH8 p.F3422S 6 38891892 38891892 GI1_CENTRAL_NER... 37 Missense_Mutation SNP T C uc003ooe.1 Hybrid_Cap... view
DNAH8 p.N4255K 6 38980035 38980035 GI1_CENTRAL_NER... 37 Missense_Mutation SNP C A uc003ooe.1 Hybrid_Cap... view
DPYD p.V313L 1 98060636 98060636 GI1_CENTRAL_NER... 37 Missense_Mutation SNP C A uc001drv.2 Hybrid_Cap... view
DYRK1A 21 38884966 38884967 GI1_CENTRAL_NER... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EDN1 6 12290729 12290729 GI1_CENTRAL_NER... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EDNRA p.A188A 4 148453673 148453673 GI1_CENTRAL_NER... 37 Silent SNP C T uc003iky.2 EDNRA_uc011cid.... Hybrid_Cap... view
ELL p.K580Q 19 18556045 18556045 GI1_CENTRAL_NER... 37 Missense_Mutation SNP T G uc002njh.2 ELL_uc010ebq.2_... Hybrid_Cap... view
EPHA6 3 97367230 97367231 GI1_CENTRAL_NER... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA7 p.S225Y 6 94120377 94120377 GI1_CENTRAL_NER... 37 Missense_Mutation SNP G T uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
EPHB4 p.A725S 7 100405148 100405148 GI1_CENTRAL_NER... 37 Missense_Mutation SNP C A uc003uwn.1 EPHB4_uc003uwm.... Hybrid_Cap... view
ETV1 7 14028708 14028708 GI1_CENTRAL_NER... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCD2 3 10143086 10143087 GI1_CENTRAL_NER... 37 3'UTR Ins - A uc003bux.1 FANCD2_uc003buy... Hybrid_Cap...
FANCM p.Q1888K 14 45665696 45665696 GI1_CENTRAL_NER... 37 Missense_Mutation SNP C A uc001wwd.3 FANCM_uc010anf.... Hybrid_Cap... view
FN1 2 216244182 216244185 GI1_CENTRAL_NER... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FUS p.Q88Q 16 31195252 31195252 GI1_CENTRAL_NER... 37 Silent SNP A G uc002ebi.2 FUS_uc002ebe.1_... Hybrid_Cap... view
GRIA3 X 122318386 122318387 GI1_CENTRAL_NER... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 GI1_CENTRAL_NER... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HERC2 p.P3581R 15 28408244 28408244 GI1_CENTRAL_NER... 37 Missense_Mutation SNP G C uc001zbj.2 Hybrid_Cap... view
HNF1A 12 121434630 121434631 GI1_CENTRAL_NER... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IL1RAP 3 190366553 190366553 GI1_CENTRAL_NER... 37 Intron SNP C T uc003fsq.2 IL1RAP_uc003fsm... Hybrid_Cap... view
ILK 11 6630029 6630029 GI1_CENTRAL_NER... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 GI1_CENTRAL_NER... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAG2 p.A582V 14 105615515 105615515 GI1_CENTRAL_NER... 37 Missense_Mutation SNP G A uc001yqg.2 JAG2_uc010axf.2... Hybrid_Cap... view
JAK3 p.H232H 19 17953290 17953290 GI1_CENTRAL_NER... 37 Silent SNP G A uc002nhn.3 JAK3_uc010ebh.2... Hybrid_Cap... view
KDSR 18 60998964 60998964 GI1_CENTRAL_NER... 37 3'UTR SNP G A uc010dpw.2 KDSR_uc010xem.1... Hybrid_Cap... view
KIAA1804 1 233518499 233518499 GI1_CENTRAL_NER... 37 3'UTR SNP A G uc001hvt.3 KIAA1804_uc001h... Hybrid_Cap... view
KLK7 19 51480672 51480675 GI1_CENTRAL_NER... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LMTK2 p.A1028T 7 97822859 97822859 GI1_CENTRAL_NER... 37 Missense_Mutation SNP G A uc003upd.1 Hybrid_Cap... view
MAML2 p.Q628L 11 95825312 95825312 GI1_CENTRAL_NER... 37 Missense_Mutation SNP T A uc001pfw.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 GI1_CENTRAL_NER... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 GI1_CENTRAL_NER... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 GI1_CENTRAL_NER... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 GI1_CENTRAL_NER... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAST1 p.Q618* 19 12976578 12976578 GI1_CENTRAL_NER... 37 Nonsense_Mutation SNP C T uc002mvm.2 Hybrid_Cap... view
MAST4 p.G1183S 5 66459121 66459121 GI1_CENTRAL_NER... 37 Missense_Mutation SNP G A uc003jut.1 MAST4_uc003juw.... Hybrid_Cap... view
MCM3APAS 21 47671275 47671276 GI1_CENTRAL_NER... 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MDM4 p.R363Q 1 204518425 204518425 GI1_CENTRAL_NER... 37 Missense_Mutation SNP G A uc001hba.2 MDM4_uc001hbd.1... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 GI1_CENTRAL_NER... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
NCAM1 11 112832307 112832308 GI1_CENTRAL_NER... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 GI1_CENTRAL_NER... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK11 p.E56G 3 130748719 130748719 GI1_CENTRAL_NER... 37 Missense_Mutation SNP A G uc003eny.2 NEK11_uc003enx.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 GI1_CENTRAL_NER... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFKB1 p.G380A 4 103514654 103514654 GI1_CENTRAL_NER... 37 Missense_Mutation SNP G C uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap... view
NIPBL p.K1520_splice 5 37010328 37010328 GI1_CENTRAL_NER... 37 Splice_Site_SNP SNP G A uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NPAT p.D1261Y 11 108032032 108032032 GI1_CENTRAL_NER... 37 Missense_Mutation SNP C A uc001pjz.3 NPAT_uc010rvv.1... Hybrid_Cap... view
NPM1 5 170837734 170837734 GI1_CENTRAL_NER... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 GI1_CENTRAL_NER... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 GI1_CENTRAL_NER... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 p.G1807R 9 134074300 134074300 GI1_CENTRAL_NER... 37 Missense_Mutation SNP G A uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
ODZ1 p.E2677K X 123514556 123514556 GI1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
PAX3 2 223066017 223066018 GI1_CENTRAL_NER... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 GI1_CENTRAL_NER... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDGFB 22 39636899 39636900 GI1_CENTRAL_NER... 37 Intron Ins - TCTC rs72014707 uc003axf.2 PDGFB_uc003axe.... Hybrid_Cap...
PDK4 7 95221928 95221928 GI1_CENTRAL_NER... 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PHIP p.D213Y 6 79735845 79735845 GI1_CENTRAL_NER... 37 Missense_Mutation SNP C A uc003pir.2 PHIP_uc011dyp.1... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 GI1_CENTRAL_NER... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKHD1 p.D1079Y 6 51897957 51897957 GI1_CENTRAL_NER... 37 Missense_Mutation SNP C A uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PLCG2 p.K456R 16 81939012 81939012 GI1_CENTRAL_NER... 37 Missense_Mutation SNP A G uc002fgt.2 PLCG2_uc010chg.... Hybrid_Cap... view
PLD1 p.G232E 3 171442549 171442549 GI1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc003fhs.2 PLD1_uc003fht.2... Hybrid_Cap... view
PPP1R3A 7 113517649 113517649 GI1_CENTRAL_NER... 37 3'UTR SNP G A uc010ljy.1 Hybrid_Cap... view
PRKCB p.G543V 16 24196794 24196794 GI1_CENTRAL_NER... 37 Missense_Mutation SNP G T uc002dme.2 PRKCB_uc002dmd.... Hybrid_Cap... view
PRKCQ p.D452E 10 6521050 6521050 GI1_CENTRAL_NER... 37 Missense_Mutation SNP G C uc001iji.1 PRKCQ_uc009xim.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 GI1_CENTRAL_NER... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PXK p.I209I 3 58380736 58380736 GI1_CENTRAL_NER... 37 Silent SNP C A uc003djz.1 PXK_uc003djx.1_... Hybrid_Cap... view
RALBP1 p.K145Q 18 9517031 9517031 GI1_CENTRAL_NER... 37 Missense_Mutation SNP A C uc002kob.2 RALBP1_uc002koc... Hybrid_Cap... view
RB1 p.R552* 13 48955538 48955538 GI1_CENTRAL_NER... 37 Nonsense_Mutation SNP C T uc001vcb.2 Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 GI1_CENTRAL_NER... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KL1 14 75373626 75373627 GI1_CENTRAL_NER... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SLC22A15 1 116609736 116609736 GI1_CENTRAL_NER... 37 3'UTR SNP C T uc001egb.3 Hybrid_Cap... view
SS18 p.P95fs 18 23637654 23637654 GI1_CENTRAL_NER... 37 Frame_Shift_Del Del G - uc002kvm.2 SS18_uc002kvn.2... Hybrid_Cap...
STAT5A 17 40462797 40462802 GI1_CENTRAL_NER... 37 3'UTR Del TGTGT... - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
STK25 2 242435659 242435662 GI1_CENTRAL_NER... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 GI1_CENTRAL_NER... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TBCK p.S60S 4 107229938 107229938 GI1_CENTRAL_NER... 37 Silent SNP A T uc010ilv.2 TBCK_uc003hye.2... Hybrid_Cap... view
TGFB2 1 218519928 218519929 GI1_CENTRAL_NER... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
THBS3 p.R803H 1 155167345 155167345 GI1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc001fix.2 RAG1AP1_uc010pe... Hybrid_Cap... view
TLK1 2 171850178 171850179 GI1_CENTRAL_NER... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 GI1_CENTRAL_NER... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNFRSF13C 22 42321324 42321324 GI1_CENTRAL_NER... 37 3'UTR SNP C T uc010gyp.1 WBP2NL_uc011ape... Hybrid_Cap... view
TP53 p.C275Y 17 7577114 7577114 GI1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 GI1_CENTRAL_NER... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPS1 p.R544Q 8 116616565 116616565 GI1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap... view
TTN p.V5873M 2 179588637 179588637 GI1_CENTRAL_NER... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
ULK1 p.G762R 12 132402057 132402057 GI1_CENTRAL_NER... 37 Missense_Mutation SNP G A uc001uje.2 Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 GI1_CENTRAL_NER... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK2 p.M2210_splice 9 96079801 96079801 GI1_CENTRAL_NER... 37 Splice_Site_SNP SNP G C uc004ati.1 WNK2_uc011lud.1... Hybrid_Cap... view
WRN p.N365H 8 30938636 30938636 GI1_CENTRAL_NER... 37 Missense_Mutation SNP A C uc003xio.3 WRN_uc011lbd.1_... Hybrid_Cap... view
ZAK p.C346G 2 174096923 174096923 GI1_CENTRAL_NER... 37 Missense_Mutation SNP T G uc002uhz.2 Hybrid_Cap... view
ZNF423 p.V610L 16 49671235 49671235 GI1_CENTRAL_NER... 37 Missense_Mutation SNP C A uc002efs.2 ZNF423_uc010vgn... Hybrid_Cap... view