Annotation Summary for Cell Line: UACC-62  

Cell line primary name: UACC-62
Cell line aliases:
Gender:
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes:
Source: NCI/DCTD
Expression arrays: BRAKE_p_NCLE_RNA2_HG-U133_Plus_2_E09_241154
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_G07_256158
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in UACC-62

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 UACC62_SKIN 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA p.R2084K 17 35478300 35478300 UACC62_SKIN 37 Missense_Mutation SNP C T uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 UACC62_SKIN 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 UACC62_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ALPK1 4 113347609 113347610 UACC62_SKIN 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 UACC62_SKIN 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
BCR 22 23631813 23631814 UACC62_SKIN 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BRAF p.V600E 7 140453136 140453136 UACC62_SKIN 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
BRCA1 p.P832S 17 41245054 41245054 UACC62_SKIN 37 Missense_Mutation SNP G A uc002ict.2 BRCA1_uc010whp.... Hybrid_Cap... view
BRCC3 p.S181N X 154319108 154319108 UACC62_SKIN 37 Missense_Mutation SNP G A uc004fna.2 BRCC3_uc004fnb.... Hybrid_Cap... view
BUB1 p.K625fs 2 111413317 111413317 UACC62_SKIN 37 Frame_Shift_Del Del T - uc002tgc.2 BUB1_uc010yxh.1... Hybrid_Cap...
C15ORF55 p.E216K 15 34640715 34640715 UACC62_SKIN 37 Missense_Mutation SNP G A uc010ucc.1 C15orf55_uc010u... Hybrid_Cap... view
CAMK1D 10 12870909 12870910 UACC62_SKIN 37 3'UTR DNP GG AA uc001ilo.2 Hybrid_Cap...
CLK4 5 178044268 178044269 UACC62_SKIN 37 Intron Ins - C uc003mjf.1 CLK4_uc003mjg.1... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 UACC62_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN5 p.G858E 11 100170081 100170081 UACC62_SKIN 37 Missense_Mutation SNP G A uc001pga.2 CNTN5_uc001pfz.... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 UACC62_SKIN 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
DAPK1 p.L311F 9 90258305 90258305 UACC62_SKIN 37 Missense_Mutation SNP G T uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap... view
EIF2S1 p.E274* 14 67849305 67849305 UACC62_SKIN 37 Nonsense_Mutation SNP G T uc001xjg.2 Hybrid_Cap... view
ETV1 7 14028708 14028708 UACC62_SKIN 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGF4 p.S194L 11 69588117 69588117 UACC62_SKIN 37 Missense_Mutation SNP G A uc001opg.1 FGF4_uc010rqj.1... Hybrid_Cap... view
FIGF p.R141Q X 15376195 15376195 UACC62_SKIN 37 Missense_Mutation SNP C T uc004cwt.1 Hybrid_Cap... view
GLI2 p.V1500M 2 121747988 121747988 UACC62_SKIN 37 Missense_Mutation SNP G A uc010flp.2 GLI2_uc002tmq.1... Hybrid_Cap... view
GPR112 p.Q2926P X 135487973 135487973 UACC62_SKIN 37 Missense_Mutation SNP A C uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GRAMD1B 11 123396814 123396814 UACC62_SKIN 37 5'UTR SNP G A uc001pyw.2 GRAMD1B_uc001py... Hybrid_Cap... view
GRIA3 X 122318386 122318387 UACC62_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 UACC62_SKIN 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
ILK 11 6630029 6630029 UACC62_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGA5 p.Q791R 12 54795384 54795384 UACC62_SKIN 37 Missense_Mutation SNP T C uc001sga.2 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 UACC62_SKIN 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
LAMA1 p.L1358F 18 7008537 7008537 UACC62_SKIN 37 Missense_Mutation SNP G A uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LRRC7 p.E833G 1 70504119 70504119 UACC62_SKIN 37 Missense_Mutation SNP A G uc001dep.2 LRRC7_uc009wbg.... Hybrid_Cap... view
LZTR1 p.P114S 22 21341812 21341812 UACC62_SKIN 37 Missense_Mutation SNP C T uc002zto.2 LZTR1_uc002ztn.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 UACC62_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 UACC62_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 UACC62_SKIN 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 p.A1199del 6 161519351 161519353 UACC62_SKIN 37 In_Frame_Del Del CTG - uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap...
MARK1 p.R61H 1 220752826 220752826 UACC62_SKIN 37 Missense_Mutation SNP G A uc009xdw.2 MARK1_uc001hml.... Hybrid_Cap... view
MLLT3 9 20346377 20346378 UACC62_SKIN 37 3'UTR Ins - A rs66943046 uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MMP1 p.Q139* 11 102667829 102667829 UACC62_SKIN 37 Nonsense_Mutation SNP G A uc001phi.2 MMP1_uc010ruv.1... Hybrid_Cap... view
MTCP1 p.H90Y X 154293902 154293902 UACC62_SKIN 37 Missense_Mutation SNP G A uc004fmz.2 MTCP1NB_uc004fm... Hybrid_Cap... view
MYH1 p.Q391* 17 10415486 10415486 UACC62_SKIN 37 Nonsense_Mutation SNP G A uc002gmo.2 Hybrid_Cap... view
NCAM1 11 112832307 112832308 UACC62_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 UACC62_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 UACC62_SKIN 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NPAT p.S628W 11 108043828 108043828 UACC62_SKIN 37 Missense_Mutation SNP G C uc001pjz.3 NPAT_uc010rvv.1... Hybrid_Cap... view
OBSCN p.G3843E 1 228482613 228482613 UACC62_SKIN 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAX3 2 223066017 223066018 UACC62_SKIN 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 UACC62_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRRX1 p.Y234F 1 170705290 170705290 UACC62_SKIN 37 Missense_Mutation SNP A T uc001ghf.2 PRRX1_uc001ghe.... Hybrid_Cap... view
PTEN p.L247fs 10 89717715 89717716 UACC62_SKIN 37 Frame_Shift_Ins Ins - A uc001kfb.2 Hybrid_Cap...
RIMS2 8 105264088 105264088 UACC62_SKIN 37 3'UTR Del A - uc003yls.2 RIMS2_uc003ylp.... Hybrid_Cap...
ROS1 p.P1020S 6 117686283 117686283 UACC62_SKIN 37 Missense_Mutation SNP G A uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 UACC62_SKIN 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
TG p.S1235S 8 133919003 133919003 UACC62_SKIN 37 Silent SNP G A uc003ytw.2 TG_uc010mdw.2_5... Hybrid_Cap... view
TMEM200A p.G75E 6 130761791 130761791 UACC62_SKIN 37 Missense_Mutation SNP G A uc003qca.2 TMEM200A_uc010k... Hybrid_Cap... view
TNRC6B p.Q1328del 22 40697177 40697179 UACC62_SKIN 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TRIM33 1 114940215 114940216 UACC62_SKIN 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRRAP p.S722F 7 98509802 98509802 UACC62_SKIN 37 Missense_Mutation SNP C T uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TTN p.G22648E 2 179435212 179435212 UACC62_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E7056K 2 179582835 179582835 UACC62_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.G1742E 2 179641366 179641366 UACC62_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R139W 2 179665290 179665290 UACC62_SKIN 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 UACC62_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B 8 100887922 100887923 UACC62_SKIN 37 3'UTR Del TG - uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap...