Annotation Summary for Cell Line: RERF-LC-KJ  

Cell line primary name: RERF-LC-KJ
Cell line aliases:
Gender: M
Site Primary: lung
Histology: carcinoma
Hist Subtype1: non_small_cell_carcinoma
Notes:
Source: HSRRB
Expression arrays: MAKER_p_NCLE_RNA7_HG-U133_Plus_2_F10_454704
SNP arrays: BOWER_p_NCLE_DNAAffy8_GenomeWideSNP_6_C08_464564
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in RERF-LC-KJ

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 RERFLCKJ_LUNG 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AFF3 2 100624011 100624011 RERFLCKJ_LUNG 37 Intron SNP C A uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
ALPK1 4 113347609 113347610 RERFLCKJ_LUNG 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 RERFLCKJ_LUNG 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ATR p.D1586Y 3 142231198 142231198 RERFLCKJ_LUNG 37 Missense_Mutation SNP C A uc003eux.3 Hybrid_Cap... view
ATR p.A1550V 3 142231305 142231305 RERFLCKJ_LUNG 37 Missense_Mutation SNP G A uc003eux.3 Hybrid_Cap... view
AURKC 19 57742494 57742507 RERFLCKJ_LUNG 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
CACNB2 10 18828721 18828722 RERFLCKJ_LUNG 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2A 5 149602223 149602224 RERFLCKJ_LUNG 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 RERFLCKJ_LUNG 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CCNA1 p.L324Q 13 37014193 37014193 RERFLCKJ_LUNG 37 Missense_Mutation SNP T A uc001uvr.3 CCNA1_uc010teo.... Hybrid_Cap... view
CDK13 p.Q544H 7 40027618 40027618 RERFLCKJ_LUNG 37 Missense_Mutation SNP G T uc003thh.3 CDK13_uc003thi.... Hybrid_Cap... view
CHRNA5 15 78885615 78885616 RERFLCKJ_LUNG 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 RERFLCKJ_LUNG 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
DACH1 13 72014625 72014626 RERFLCKJ_LUNG 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DGKB 7 14216330 14216332 RERFLCKJ_LUNG 37 Intron Del AAC - uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DST p.D3677N 6 56394455 56394455 RERFLCKJ_LUNG 37 Missense_Mutation SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 RERFLCKJ_LUNG 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EDN1 6 12290729 12290729 RERFLCKJ_LUNG 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EPHA6 3 97367230 97367231 RERFLCKJ_LUNG 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPO p.R37Q 7 100319277 100319277 RERFLCKJ_LUNG 37 Missense_Mutation SNP G A uc003uwi.2 EPO_uc011kkc.1_... Hybrid_Cap... view
ETV1 7 14028708 14028708 RERFLCKJ_LUNG 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCG p.P241L 9 35077023 35077023 RERFLCKJ_LUNG 37 Missense_Mutation SNP G A uc003zwb.1 FANCG_uc003zwa.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 RERFLCKJ_LUNG 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FIP1L1 p.Y507Y 4 54324841 54324841 RERFLCKJ_LUNG 37 Silent SNP C T uc003gzy.2 PDGFRA_uc003haa... Hybrid_Cap... view
FLI1 11 128638217 128638217 RERFLCKJ_LUNG 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 RERFLCKJ_LUNG 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 RERFLCKJ_LUNG 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GOLGA5 p.A522S 14 93286125 93286125 RERFLCKJ_LUNG 37 Missense_Mutation SNP G T uc001yaz.1 Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 RERFLCKJ_LUNG 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 RERFLCKJ_LUNG 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRK1 p.G68S 13 114321903 114321903 RERFLCKJ_LUNG 37 Missense_Mutation SNP G A uc010tkf.1 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 RERFLCKJ_LUNG 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 RERFLCKJ_LUNG 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 RERFLCKJ_LUNG 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 RERFLCKJ_LUNG 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 RERFLCKJ_LUNG 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 RERFLCKJ_LUNG 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
LATS2 13 21620222 21620223 RERFLCKJ_LUNG 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
MAGEB16 p.N122fs X 35820679 35820679 RERFLCKJ_LUNG 37 Frame_Shift_Del Del T - uc010ngt.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 RERFLCKJ_LUNG 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 RERFLCKJ_LUNG 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 RERFLCKJ_LUNG 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 RERFLCKJ_LUNG 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK14 6 36076345 36076354 RERFLCKJ_LUNG 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPKAPK5 p.V326I 12 112326298 112326298 RERFLCKJ_LUNG 37 Missense_Mutation SNP G A uc001tta.2 MAPKAPK5_uc001t... Hybrid_Cap... view
MGA p.Q1781L 15 42040964 42040964 RERFLCKJ_LUNG 37 Missense_Mutation SNP A T uc010ucy.1 MGA_uc010ucz.1_... Hybrid_Cap... view
MLLT6 p.S822C 17 36878152 36878152 RERFLCKJ_LUNG 37 Missense_Mutation SNP A T uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap... view
MYD88 p.D255D 3 38182305 38182305 RERFLCKJ_LUNG 37 Silent SNP C T uc003chx.2 MYD88_uc011ayi.... Hybrid_Cap... view
MYLK 3 123332876 123332876 RERFLCKJ_LUNG 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK p.E1066del 3 123419117 123419119 RERFLCKJ_LUNG 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYLK3 p.M117I 16 46781755 46781755 RERFLCKJ_LUNG 37 Missense_Mutation SNP C A uc002eei.3 MYLK3_uc010vge.... Hybrid_Cap... view
MYO3B p.N388S 2 171239677 171239677 RERFLCKJ_LUNG 37 Missense_Mutation SNP A G rs34273653 uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 RERFLCKJ_LUNG 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NAV3 p.T1016A 12 78513022 78513022 RERFLCKJ_LUNG 37 Missense_Mutation SNP A G uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 RERFLCKJ_LUNG 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 RERFLCKJ_LUNG 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 RERFLCKJ_LUNG 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NCOA3 20 46282339 46282340 RERFLCKJ_LUNG 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 RERFLCKJ_LUNG 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 RERFLCKJ_LUNG 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NIN p.K862S 14 51225162 51225163 RERFLCKJ_LUNG 37 Missense_Mutation DNP CT AC uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap...
NIPBL 5 37064152 37064152 RERFLCKJ_LUNG 37 Intron SNP C T uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NPR1 1 153665919 153665920 RERFLCKJ_LUNG 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 RERFLCKJ_LUNG 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H3 p.S61L 11 47282044 47282044 RERFLCKJ_LUNG 37 Missense_Mutation SNP C T uc001nel.2 NR1H3_uc009yll.... Hybrid_Cap... view
NTRK2 9 87285466 87285466 RERFLCKJ_LUNG 37 5'UTR SNP C G uc004anz.1 NTRK2_uc004anv.... Hybrid_Cap... view
NUMA1 p.R1781R 11 71718357 71718357 RERFLCKJ_LUNG 37 Silent SNP G T uc001orl.1 NUMA1_uc001orj.... Hybrid_Cap... view
PAX3 2 223158653 223158653 RERFLCKJ_LUNG 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PGGT1B 5 114548071 114548072 RERFLCKJ_LUNG 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PGR 11 100933598 100933599 RERFLCKJ_LUNG 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 RERFLCKJ_LUNG 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PKHD1 p.G2562D 6 51732709 51732709 RERFLCKJ_LUNG 37 Missense_Mutation SNP C T uc003pah.1 PKHD1_uc010jzn.... Hybrid_Cap... view
PLEKHA5 p.K317K 12 19427555 19427555 RERFLCKJ_LUNG 37 Silent SNP G A uc010sie.1 PLEKHA5_uc001re... Hybrid_Cap... view
PRKACB 1 84670439 84670440 RERFLCKJ_LUNG 37 Intron Ins - C rs67519258 uc001djl.2 PRKACB_uc001djj... Hybrid_Cap...
PRKDC p.G2113del 8 48771415 48771417 RERFLCKJ_LUNG 37 In_Frame_Del Del CTC - uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 RERFLCKJ_LUNG 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RASA1 p.L904fs 5 86679550 86679550 RERFLCKJ_LUNG 37 Frame_Shift_Del Del T - uc003kiw.2 RASA1_uc010jav.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 RERFLCKJ_LUNG 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KA5 14 91360733 91360734 RERFLCKJ_LUNG 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SMO p.A754A 7 128852190 128852190 RERFLCKJ_LUNG 37 Silent SNP C T uc003vor.2 SMO_uc003vos.2_... Hybrid_Cap... view
SOST p.A59T 17 41835935 41835935 RERFLCKJ_LUNG 37 Missense_Mutation SNP C T uc002iec.1 Hybrid_Cap... view
STAG3 p.I753V 7 99799445 99799445 RERFLCKJ_LUNG 37 Missense_Mutation SNP A G uc003utx.1 STAG3_uc010lgs.... Hybrid_Cap... view
STAT5A 17 40462797 40462798 RERFLCKJ_LUNG 37 3'UTR Del TG - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
STK31 7 23872024 23872025 RERFLCKJ_LUNG 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TCF12 15 57544456 57544456 RERFLCKJ_LUNG 37 Intron SNP G A uc002aea.2 TCF12_uc010ugm.... Hybrid_Cap... view
TEC 4 48139307 48139310 RERFLCKJ_LUNG 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TIMP3 p.A199V 22 33255324 33255324 RERFLCKJ_LUNG 37 Missense_Mutation SNP C T uc003anb.2 SYN3_uc003amx.2... Hybrid_Cap... view
TLE1 p.D432H 9 84225202 84225202 RERFLCKJ_LUNG 37 Missense_Mutation SNP C G uc004alz.2 TLE1_uc004aly.2... Hybrid_Cap... view
TLK1 2 171850178 171850179 RERFLCKJ_LUNG 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TLN1 p.G2292_splice 9 35699155 35699155 RERFLCKJ_LUNG 37 Splice_Site_SNP SNP T G uc003zxt.2 Hybrid_Cap... view
TMEM123 11 102269398 102269398 RERFLCKJ_LUNG 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.E224D 17 7578177 7578177 RERFLCKJ_LUNG 37 Missense_Mutation SNP C A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 RERFLCKJ_LUNG 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TP73 p.P210L 1 3639930 3639930 RERFLCKJ_LUNG 37 Missense_Mutation SNP C T uc001akp.2 TP73_uc001akq.2... Hybrid_Cap... view
TPM3 1 154155713 154155713 RERFLCKJ_LUNG 37 Intron SNP G A uc001fec.1 TPM3_uc010pei.1... Hybrid_Cap... view
TRIM42 3 140396908 140396908 RERFLCKJ_LUNG 37 5'UTR SNP G C uc003eto.1 Hybrid_Cap... view
TRPS1 p.P829A 8 116599443 116599443 RERFLCKJ_LUNG 37 Missense_Mutation SNP G C rs78472570 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap... view
TTN 2 179391639 179391640 RERFLCKJ_LUNG 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.V26871I 2 179419871 179419871 RERFLCKJ_LUNG 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.V19442L 2 179447155 179447155 RERFLCKJ_LUNG 37 Missense_Mutation SNP C G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.P10772S 2 179515979 179515979 RERFLCKJ_LUNG 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179604876 179604876 RERFLCKJ_LUNG 37 Intron SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 RERFLCKJ_LUNG 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK4 p.S211S 17 40934790 40934790 RERFLCKJ_LUNG 37 Silent SNP T C uc002ibj.2 WNK4_uc010wgx.1... Hybrid_Cap... view