Annotation Summary for Cell Line: G-401  

Cell line primary name: G-401
Cell line aliases:
Gender: M
Site Primary: soft_tissue
Histology: rhabdoid_tumour
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_E04_383676
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_B07_410892
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in G-401

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 G401_SOFT_TISSU... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 G401_SOFT_TISSU... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 G401_SOFT_TISSU... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 G401_SOFT_TISSU... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKAP9 p.R2607G 7 91709266 91709266 G401_SOFT_TISSU... 37 Missense_Mutation SNP A G uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
ALPK1 4 113347609 113347610 G401_SOFT_TISSU... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ASTN1 p.Y803C 1 176905476 176905476 G401_SOFT_TISSU... 37 Missense_Mutation SNP T C uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
ATP10A p.R1497Q 15 25924498 25924498 G401_SOFT_TISSU... 37 Missense_Mutation SNP C T uc010ayu.2 Hybrid_Cap... view
AURKC 19 57742494 57742507 G401_SOFT_TISSU... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCR 22 23631813 23631814 G401_SOFT_TISSU... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BRD2 6 32948599 32948599 G401_SOFT_TISSU... 37 3'UTR Del C - uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
CABC1 1 227171585 227171585 G401_SOFT_TISSU... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 G401_SOFT_TISSU... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CASP7 p.S232S 10 115486108 115486108 G401_SOFT_TISSU... 37 Silent SNP G A uc001lao.2 CASP7_uc001lam.... Hybrid_Cap... view
CDK11B 1 1654066 1654068 G401_SOFT_TISSU... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 G401_SOFT_TISSU... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD9 p.2164_2165SS>S 16 53338410 53338412 G401_SOFT_TISSU... 37 In_Frame_Del Del TTC - uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 G401_SOFT_TISSU... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN5 p.G672G 11 100126502 100126502 G401_SOFT_TISSU... 37 Silent SNP C T uc001pga.2 CNTN5_uc001pfz.... Hybrid_Cap... view
CNTN6 3 1339681 1339686 G401_SOFT_TISSU... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
COL1A1 17 48262775 48262775 G401_SOFT_TISSU... 37 3'UTR Del A - rs1061237 uc002iqm.2 Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 G401_SOFT_TISSU... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CXCL12 10 44873992 44873993 G401_SOFT_TISSU... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DACH1 13 72014625 72014626 G401_SOFT_TISSU... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DDR1 p.R60C 6 30856777 30856777 G401_SOFT_TISSU... 37 Missense_Mutation SNP C T uc003nrv.2 DDR1_uc010jse.2... Hybrid_Cap... view
DMPK 19 46283281 46283281 G401_SOFT_TISSU... 37 Intron SNP C T uc002pdi.1 DMPK_uc010xxs.1... Hybrid_Cap... view
EP300 22 41574970 41574972 G401_SOFT_TISSU... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA5 4 66189753 66189754 G401_SOFT_TISSU... 37 3'UTR Ins - T rs67487372 uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap...
EPHA6 3 97367230 97367231 G401_SOFT_TISSU... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 G401_SOFT_TISSU... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FLI1 11 128638217 128638217 G401_SOFT_TISSU... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
GCNT2 6 10627029 10627029 G401_SOFT_TISSU... 37 3'UTR SNP T A uc010joo.2 GCNT2_uc010jol.... Hybrid_Cap... view
GLG1 16 74487041 74487041 G401_SOFT_TISSU... 37 Intron SNP G T uc002fcx.2 GLG1_uc002fcy.3... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 G401_SOFT_TISSU... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 G401_SOFT_TISSU... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 G401_SOFT_TISSU... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
ILK 11 6630029 6630029 G401_SOFT_TISSU... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB1 10 33197131 33197134 G401_SOFT_TISSU... 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 G401_SOFT_TISSU... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 G401_SOFT_TISSU... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMA1 p.A1356T 18 7008543 7008543 G401_SOFT_TISSU... 37 Missense_Mutation SNP C T uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LDLR p.V827I 19 11240278 11240278 G401_SOFT_TISSU... 37 Missense_Mutation SNP G A uc002mqk.3 LDLR_uc010xlk.1... Hybrid_Cap... view
LRRK1 p.F1903C 15 101606350 101606350 G401_SOFT_TISSU... 37 Missense_Mutation SNP T G uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
LRRK2 p.F553_splice 12 40668383 40668383 G401_SOFT_TISSU... 37 Splice_Site_SNP SNP A C uc001rmg.3 LRRK2_uc001rmh.... Hybrid_Cap... view
MAF 16 79628537 79628537 G401_SOFT_TISSU... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 G401_SOFT_TISSU... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 G401_SOFT_TISSU... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K12 12 53874893 53874894 G401_SOFT_TISSU... 37 3'UTR Del AT - uc001sdn.1 PCBP2_uc001sdc.... Hybrid_Cap...
MAP3K12 p.G606E 12 53876770 53876770 G401_SOFT_TISSU... 37 Missense_Mutation SNP C T uc001sdn.1 MAP3K12_uc001sd... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 G401_SOFT_TISSU... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MCM3APAS 21 47671275 47671276 G401_SOFT_TISSU... 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MDM2 12 69233754 69233754 G401_SOFT_TISSU... 37 3'UTR SNP T C uc001sui.2 MDM2_uc009zri.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 G401_SOFT_TISSU... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 G401_SOFT_TISSU... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 G401_SOFT_TISSU... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 G401_SOFT_TISSU... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 G401_SOFT_TISSU... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NOTCH4 p.16_16L>LL 6 32191658 32191659 G401_SOFT_TISSU... 37 In_Frame_Ins Ins - AGC rs67287835 uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPM1 5 170837734 170837734 G401_SOFT_TISSU... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 G401_SOFT_TISSU... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NSD1 p.R1188S 5 176638964 176638964 G401_SOFT_TISSU... 37 Missense_Mutation SNP G C uc003mfr.3 NSD1_uc003mft.3... Hybrid_Cap... view
NUP214 9 134067556 134067557 G401_SOFT_TISSU... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
PAX3 2 223158653 223158653 G401_SOFT_TISSU... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDCD11 10 105205374 105205374 G401_SOFT_TISSU... 37 3'UTR SNP A G uc001kwy.1 Hybrid_Cap... view
PGR 11 100933598 100933599 G401_SOFT_TISSU... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PKDCC p.G46D 2 42275476 42275476 G401_SOFT_TISSU... 37 Missense_Mutation SNP G A uc002rsg.2 Hybrid_Cap... view
PLCG2 16 81954997 81954997 G401_SOFT_TISSU... 37 Intron Del T - uc002fgt.2 PLCG2_uc010chg.... Hybrid_Cap...
PRKD3 2 37480319 37480320 G401_SOFT_TISSU... 37 Stop_Codon_Ins Ins - T rs79875666 uc002rqd.2 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 G401_SOFT_TISSU... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RBPJ 4 26431822 26431822 G401_SOFT_TISSU... 37 Intron Del A - rs76214390 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap...
RIPK4 p.Q504R 21 43161842 43161842 G401_SOFT_TISSU... 37 Missense_Mutation SNP T C uc002yzn.1 Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 G401_SOFT_TISSU... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KC1 p.K798Q 1 213415211 213415211 G401_SOFT_TISSU... 37 Missense_Mutation SNP A C uc010ptr.1 RPS6KC1_uc001hk... Hybrid_Cap... view
SGK196 8 42978200 42978201 G401_SOFT_TISSU... 37 3'UTR Ins - T uc003xpw.2 Hybrid_Cap...
SLC6A8 X 152957656 152957657 G401_SOFT_TISSU... 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
SORL1 11 121500401 121500401 G401_SOFT_TISSU... 37 3'UTR Del A - uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap...
STK31 7 23872024 23872025 G401_SOFT_TISSU... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TLR3 p.L529F 4 187004425 187004425 G401_SOFT_TISSU... 37 Missense_Mutation SNP C T uc003iyq.2 TLR3_uc011ckz.1... Hybrid_Cap... view
TMEM123 11 102269398 102269398 G401_SOFT_TISSU... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 G401_SOFT_TISSU... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TPO p.R491H 2 1488501 1488501 G401_SOFT_TISSU... 37 Missense_Mutation SNP G A uc002qww.2 TPO_uc010ewj.2_... Hybrid_Cap... view
TRIM33 1 114940215 114940216 G401_SOFT_TISSU... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 8 116635872 116635873 G401_SOFT_TISSU... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 G401_SOFT_TISSU... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.A4853S 2 179594838 179594838 G401_SOFT_TISSU... 37 Missense_Mutation SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 G401_SOFT_TISSU... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZNF608 p.Y1245H 5 123980327 123980327 G401_SOFT_TISSU... 37 Missense_Mutation SNP A G uc003ktq.1 ZNF608_uc003ktr... Hybrid_Cap... view