Annotation Summary for Cell Line: VMRC-RCZ  

Cell line primary name: VMRC-RCZ
Cell line aliases:
Gender:
Site Primary: kidney
Histology: carcinoma
Hist Subtype1: renal_cell_carcinoma
Notes:
Source: HSRRB
Expression arrays: METIS_p_NCLE_RNA1_Human_U133_Plus_2.0_G06_241004
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_A05_256010
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in VMRC-RCZ

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM28 8 24211994 24211997 VMRCRCZ_KIDNEY 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADCK5 p.R86H 8 145608422 145608422 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP G A uc003zch.2 ADCK5_uc003zcg.... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 VMRCRCZ_KIDNEY 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 VMRCRCZ_KIDNEY 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ARHGEF10 p.V675I 8 1857516 1857516 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP G A uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
BCR 22 23631813 23631814 VMRCRCZ_KIDNEY 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 VMRCRCZ_KIDNEY 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BID 22 18256521 18256521 VMRCRCZ_KIDNEY 37 5'UTR SNP A C uc002znc.1 BID_uc002znd.1_... Hybrid_Cap... view
CACNB2 10 18828721 18828722 VMRCRCZ_KIDNEY 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 VMRCRCZ_KIDNEY 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 VMRCRCZ_KIDNEY 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSPP1 p.F749S 8 68066286 68066286 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP T C uc003xxi.2 CSPP1_uc003xxg.... Hybrid_Cap... view
CXCL12 10 44873992 44873993 VMRCRCZ_KIDNEY 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DYRK1A 21 38884966 38884967 VMRCRCZ_KIDNEY 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EIF4E 4 99808137 99808141 VMRCRCZ_KIDNEY 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EPHA6 3 97367230 97367231 VMRCRCZ_KIDNEY 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 VMRCRCZ_KIDNEY 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FBN2 5 127595046 127595048 VMRCRCZ_KIDNEY 37 3'UTR Del TTA - uc003kuu.2 Hybrid_Cap...
FBN2 p.L2581F 5 127609631 127609631 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP G A uc003kuu.2 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 VMRCRCZ_KIDNEY 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 VMRCRCZ_KIDNEY 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 VMRCRCZ_KIDNEY 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 VMRCRCZ_KIDNEY 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 VMRCRCZ_KIDNEY 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 VMRCRCZ_KIDNEY 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 VMRCRCZ_KIDNEY 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 VMRCRCZ_KIDNEY 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 VMRCRCZ_KIDNEY 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INHBA 7 41740067 41740068 VMRCRCZ_KIDNEY 37 5'UTR Ins - T rs116230303 uc003thq.2 LOC285954_uc003... Hybrid_Cap...
KLK7 19 51480672 51480675 VMRCRCZ_KIDNEY 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRGUK p.Q283L 7 133848201 133848201 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP A T uc003vrm.1 Hybrid_Cap... view
LRP1 p.S4251C 12 57604261 57604261 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP C G uc001snd.2 Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 VMRCRCZ_KIDNEY 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 VMRCRCZ_KIDNEY 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 VMRCRCZ_KIDNEY 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 VMRCRCZ_KIDNEY 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 VMRCRCZ_KIDNEY 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MFSD2A 1 40435515 40435515 VMRCRCZ_KIDNEY 37 3'UTR Del T - rs79314830 uc001cev.2 MFSD2A_uc001ceu... Hybrid_Cap...
NCAM1 11 112832307 112832308 VMRCRCZ_KIDNEY 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 VMRCRCZ_KIDNEY 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA2 8 71129001 71129001 VMRCRCZ_KIDNEY 37 Splice_Site_SNP SNP T A uc003xyn.1 Hybrid_Cap... view
NCOA3 p.QQQ1272del 20 46279815 46279823 VMRCRCZ_KIDNEY 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 VMRCRCZ_KIDNEY 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NLRP6 p.T789M 11 284394 284394 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP C T uc010qvs.1 NLRP6_uc010qvt.... Hybrid_Cap... view
NPM1 5 170837734 170837734 VMRCRCZ_KIDNEY 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 VMRCRCZ_KIDNEY 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 VMRCRCZ_KIDNEY 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H3 p.L52I 11 47282016 47282016 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP C A uc001nel.2 NR1H3_uc009yll.... Hybrid_Cap... view
NUP214 p.G1983W 9 134103591 134103591 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP G T uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
OBSCN p.E7434K 1 228560779 228560779 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsr.... Hybrid_Cap... view
PAX3 2 223158653 223158653 VMRCRCZ_KIDNEY 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PHIP p.A337V 6 79727285 79727285 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP G A uc003pir.2 PHIP_uc011dyp.1... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 VMRCRCZ_KIDNEY 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3R4 p.D1251Y 3 130399867 130399867 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP C A uc003enj.2 Hybrid_Cap... view
PORCN X 48370583 48370583 VMRCRCZ_KIDNEY 37 Intron SNP G A uc010nie.1 PORCN_uc004djr.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 VMRCRCZ_KIDNEY 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSEN1 14 73686068 73686068 VMRCRCZ_KIDNEY 37 3'UTR SNP A G uc001xnr.2 PSEN1_uc001xnv.... Hybrid_Cap... view
RANBP17 p.M825T 5 170667983 170667983 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP T C uc003mba.2 RANBP17_uc003mb... Hybrid_Cap... view
RPS6KC1 p.A300E 1 213341264 213341264 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP C A uc010ptr.1 RPS6KC1_uc001hk... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 VMRCRCZ_KIDNEY 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
STAT5A 17 40458152 40458152 VMRCRCZ_KIDNEY 37 Intron SNP G C uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap... view
STK17A p.E126K 7 43635669 43635669 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP G A uc003tih.2 Hybrid_Cap... view
STK25 2 242435659 242435662 VMRCRCZ_KIDNEY 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 VMRCRCZ_KIDNEY 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
SULF2 20 46286967 46286967 VMRCRCZ_KIDNEY 37 3'UTR SNP T C uc002xto.2 SULF2_uc002xtr.... Hybrid_Cap... view
TAF15 p.G366R 17 34171291 34171291 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP G A uc002hkd.2 TAF15_uc010ctw.... Hybrid_Cap... view
TEC 4 48139307 48139310 VMRCRCZ_KIDNEY 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TMEM123 11 102269398 102269398 VMRCRCZ_KIDNEY 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMPO 12 98928162 98928162 VMRCRCZ_KIDNEY 37 3'UTR Del A - uc001tfh.1 TMPO_uc001tfi.1... Hybrid_Cap...
TP63 3 189507518 189507519 VMRCRCZ_KIDNEY 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIB2 2 12858338 12858338 VMRCRCZ_KIDNEY 37 5'UTR SNP A C uc002rbv.3 TRIB2_uc010yjp.... Hybrid_Cap... view
TRIM33 1 114947958 114947958 VMRCRCZ_KIDNEY 37 Intron SNP G A uc001eew.2 TRIM33_uc010owr... Hybrid_Cap... view
TSC2 16 2138671 2138672 VMRCRCZ_KIDNEY 37 3'UTR Del AA - uc002con.2 TSC2_uc010bsd.2... Hybrid_Cap...
TTBK1 p.E771del 6 43250726 43250728 VMRCRCZ_KIDNEY 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN 2 179616728 179616728 VMRCRCZ_KIDNEY 37 Intron SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UNC13C p.H272R 15 54305915 54305915 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP A G uc002ack.2 Hybrid_Cap... view
URB2 p.T513M 1 229771898 229771898 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP C T uc001hts.1 URB2_uc009xfd.1... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 VMRCRCZ_KIDNEY 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VHL p.V155_splice 3 10188322 10188322 VMRCRCZ_KIDNEY 37 Splice_Site_SNP SNP T C rs5030815 uc003bvc.2 VHL_uc003bvd.2_... Hybrid_Cap... view
WIF1 p.V133_splice 12 65462686 65462686 VMRCRCZ_KIDNEY 37 Splice_Site_SNP SNP T A uc001ssk.2 Hybrid_Cap... view
ZMYM2 p.L232Q 13 20567907 20567907 VMRCRCZ_KIDNEY 37 Missense_Mutation SNP T A rs61762995 uc001umr.2 ZMYM2_uc001umq.... Hybrid_Cap... view