Annotation Summary for Cell Line: HT55  

Cell line primary name: HT55
Cell line aliases:
Gender:
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: ECACC
Expression arrays: CRAZY_p_NCLE_RNA10_HG-U133_Plus_2_F07_569566
SNP arrays: VAULT_p_NCLE_DNAAffy14_GenomeWideSNP_6_E12_698606
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HT55

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABCA3 p.M430L 16 2354149 2354149 HT55_LARGE_INTE... 37 Missense_Mutation SNP T G uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ACVRL1 p.Q118L 12 52307382 52307382 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc001rzj.2 ACVRL1_uc001rzk... Hybrid_Cap... view
ADAM12 10 127705727 127705727 HT55_LARGE_INTE... 37 3'UTR SNP C T uc001ljk.2 ADAM12_uc010qul... Hybrid_Cap... view
ADAM17 2 9630245 9630245 HT55_LARGE_INTE... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM17 2 9667887 9667887 HT55_LARGE_INTE... 37 Intron SNP T A uc002qzu.2 ADAM17_uc010ewy... Hybrid_Cap... view
ADAM28 8 24211994 24211997 HT55_LARGE_INTE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS18 p.E134V 16 77465286 77465286 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc002ffc.3 ADAMTS18_uc002f... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 HT55_LARGE_INTE... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.D3544N 7 91727445 91727445 HT55_LARGE_INTE... 37 Missense_Mutation SNP G A uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
ALPK2 p.EDTST1006del 18 56204388 56204402 HT55_LARGE_INTE... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ANAPC5 p.N242Y 12 121775129 121775129 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc001uag.2 ANAPC5_uc001uae... Hybrid_Cap... view
APC p.Q1131* 5 112174682 112174682 HT55_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.Q1303* 5 112175198 112175198 HT55_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.R1463S 5 112175680 112175680 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ARHGEF10 p.T575A 8 1851519 1851519 HT55_LARGE_INTE... 37 Missense_Mutation SNP A G uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
ARHGEF12 11 120356045 120356045 HT55_LARGE_INTE... 37 3'UTR SNP A T uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
ATIC p.P82fs 2 216184408 216184408 HT55_LARGE_INTE... 37 Frame_Shift_Del Del C - uc002vex.3 ATIC_uc010zjo.1... Hybrid_Cap...
ATIC p.Y494S 2 216211642 216211642 HT55_LARGE_INTE... 37 Missense_Mutation SNP A C uc002vex.3 ATIC_uc010zjo.1... Hybrid_Cap... view
ATRX p.E431V X 76939456 76939456 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap... view
AURKA p.Y197C 20 54956604 54956604 HT55_LARGE_INTE... 37 Missense_Mutation SNP T C uc002xxd.1 AURKA_uc002xxe.... Hybrid_Cap... view
AXIN2 p.E30K 17 63554651 63554651 HT55_LARGE_INTE... 37 Missense_Mutation SNP C T uc002jfi.2 AXIN2_uc010den.... Hybrid_Cap... view
BAI3 p.V37F 6 69348676 69348676 HT55_LARGE_INTE... 37 Missense_Mutation SNP G T uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAI3 p.D100E 6 69348867 69348867 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BCL6 p.V614E 3 187442865 187442865 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc003frp.3 BCL6_uc011bsf.1... Hybrid_Cap... view
BRAF p.N581Y 7 140453987 140453987 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc003vwc.3 Hybrid_Cap... view
BRSK2 p.M352L 11 1466627 1466627 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc001ltm.2 BRSK2_uc009ycv.... Hybrid_Cap... view
BUB1 p.D744V 2 111406927 111406927 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc002tgc.2 BUB1_uc010yxh.1... Hybrid_Cap... view
CAMK2G p.N457Y 10 75576826 75576826 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc001jvv.1 CAMK2G_uc001jvm... Hybrid_Cap... view
CARD10 p.KE272del 22 37906309 37906314 HT55_LARGE_INTE... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CARD11 p.S644T 7 2963877 2963877 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc003smv.2 Hybrid_Cap... view
CASK p.K774* X 41390445 41390445 HT55_LARGE_INTE... 37 Nonsense_Mutation SNP T A uc004dfl.3 CASK_uc004dfj.3... Hybrid_Cap... view
CDC42BPA p.D916V 1 227259989 227259989 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDC42BPA p.K742I 1 227288717 227288717 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDC5L p.G722R 6 44413464 44413464 HT55_LARGE_INTE... 37 Missense_Mutation SNP G C uc003oxl.2 Hybrid_Cap... view
CDK16 X 47085641 47085641 HT55_LARGE_INTE... 37 Intron SNP A T uc011mll.1 CDK16_uc011mli.... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 HT55_LARGE_INTE... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTC p.E11G 17 57697524 57697524 HT55_LARGE_INTE... 37 Missense_Mutation SNP A G uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 HT55_LARGE_INTE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 HT55_LARGE_INTE... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CNTN6 p.S493C 3 1394120 1394120 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap... view
COX6C p.P7R 8 100904230 100904230 HT55_LARGE_INTE... 37 Missense_Mutation SNP G C uc003yiy.1 Hybrid_Cap... view
CSNK1A1L p.M90L 13 37679126 37679126 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc001uwm.1 Hybrid_Cap... view
CSNK1A1L p.Y32F 13 37679299 37679299 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc001uwm.1 Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 HT55_LARGE_INTE... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CTNNA2 p.D764Y 2 80831299 80831299 HT55_LARGE_INTE... 37 Missense_Mutation SNP G T uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CTNNB1 p.L275F 3 41267241 41267241 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
CTTN p.W250C 11 70266576 70266576 HT55_LARGE_INTE... 37 Missense_Mutation SNP G T uc001opu.2 CTTN_uc001opv.3... Hybrid_Cap... view
DAPK1 p.A1117S 9 90321335 90321335 HT55_LARGE_INTE... 37 Missense_Mutation SNP G T uc004apc.2 DAPK1_uc004apd.... Hybrid_Cap... view
DOCK3 p.F967S 3 51317613 51317613 HT55_LARGE_INTE... 37 Missense_Mutation SNP T C uc011bds.1 Hybrid_Cap... view
DRD2 11 113285014 113285014 HT55_LARGE_INTE... 37 Intron SNP C A uc001pnz.2 DRD2_uc010rwv.1... Hybrid_Cap... view
EIF2AK1 p.L311F 7 6080709 6080709 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc003spp.2 EIF2AK1_uc003sp... Hybrid_Cap... view
EIF2AK3 p.T428A 2 88888303 88888303 HT55_LARGE_INTE... 37 Missense_Mutation SNP T C uc002stc.3 Hybrid_Cap... view
EPHA3 p.Y198* 3 89259450 89259450 HT55_LARGE_INTE... 37 Nonsense_Mutation SNP C G uc003dqy.2 EPHA3_uc003dqx.... Hybrid_Cap... view
ERCC6 p.Q33H 10 50740912 50740912 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc001jhs.3 PGBD3_uc009xoe.... Hybrid_Cap... view
F8 p.K1596* X 154157279 154157279 HT55_LARGE_INTE... 37 Nonsense_Mutation SNP T A uc004fmt.2 Hybrid_Cap... view
F8 p.S1144R X 154158633 154158633 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc004fmt.2 Hybrid_Cap... view
FASN p.Q987L 17 80045644 80045644 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc002kdu.2 FASN_uc002kdw.1... Hybrid_Cap... view
FBN2 p.E391V 5 127730874 127730874 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FBXW7 4 153303466 153303466 HT55_LARGE_INTE... 37 Intron SNP T A uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FIP1L1 4 54245113 54245113 HT55_LARGE_INTE... 37 Intron SNP C T uc003gzy.2 PDGFRA_uc003haa... Hybrid_Cap... view
FLI1 p.H372L 11 128680639 128680639 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap... view
FLNA p.Y2077N X 153581290 153581290 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc004fkk.2 FLNA_uc004fki.2... Hybrid_Cap... view
FN1 p.T1271T 2 216257910 216257910 HT55_LARGE_INTE... 37 Silent SNP A T uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
GLG1 p.E670V 16 74508487 74508487 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc002fcx.2 GLG1_uc002fcy.3... Hybrid_Cap... view
GLI3 p.A57T 7 42188023 42188023 HT55_LARGE_INTE... 37 Missense_Mutation SNP C T uc011kbh.1 GLI3_uc011kbg.1... Hybrid_Cap... view
GPR112 p.D1483N X 135430312 135430312 HT55_LARGE_INTE... 37 Missense_Mutation SNP G A uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 HT55_LARGE_INTE... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GPR112 p.H2720P X 135477627 135477627 HT55_LARGE_INTE... 37 Missense_Mutation SNP A C uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.I2863L X 135485414 135485414 HT55_LARGE_INTE... 37 Missense_Mutation SNP A C uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR119 p.I199M X 129518825 129518825 HT55_LARGE_INTE... 37 Missense_Mutation SNP A C uc011muv.1 Hybrid_Cap... view
GRIA3 X 122318386 122318387 HT55_LARGE_INTE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 HT55_LARGE_INTE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HCK p.F344Y 20 30676386 30676386 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc002wxh.2 HCK_uc010gdy.2_... Hybrid_Cap... view
HDLBP p.K526* 2 242187700 242187700 HT55_LARGE_INTE... 37 Nonsense_Mutation SNP T A uc002waz.2 HDLBP_uc002wba.... Hybrid_Cap... view
HECW1 p.I281F 7 43477641 43477641 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HIF1A p.E513V 14 62205090 62205090 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap... view
HNRNPA2B1 7 26240288 26240288 HT55_LARGE_INTE... 37 5'UTR SNP G A uc003sxr.3 HNRNPA2B1_uc003... Hybrid_Cap... view
HSP90B1 p.E791del 12 104341188 104341190 HT55_LARGE_INTE... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 HT55_LARGE_INTE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INHBA p.A31V 7 41739881 41739881 HT55_LARGE_INTE... 37 Missense_Mutation SNP G A uc003thq.2 LOC285954_uc003... Hybrid_Cap... view
IRS1 p.Q928L 2 227660672 227660672 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc002voh.3 Hybrid_Cap... view
ITGAV p.Q161H 2 187490274 187490274 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc002upq.2 ITGAV_uc010frs.... Hybrid_Cap... view
ITGB4 p.A466D 17 73728263 73728263 HT55_LARGE_INTE... 37 Missense_Mutation SNP C A uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap... view
JAK1 p.E1051Q 1 65301888 65301888 HT55_LARGE_INTE... 37 Missense_Mutation SNP C G uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap... view
LGR5 p.E799A 12 71978186 71978186 HT55_LARGE_INTE... 37 Missense_Mutation SNP A C uc001swl.2 LGR5_uc001swm.2... Hybrid_Cap... view
LMTK2 p.T1445S 7 97833348 97833348 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc003upd.1 Hybrid_Cap... view
LRGUK p.D586H 7 133886241 133886241 HT55_LARGE_INTE... 37 Missense_Mutation SNP G C uc003vrm.1 Hybrid_Cap... view
LRP1 p.D925G 12 57559969 57559969 HT55_LARGE_INTE... 37 Missense_Mutation SNP A G uc001snd.2 LRP1_uc009zph.1... Hybrid_Cap... view
LRP1B p.K4218* 2 141072657 141072657 HT55_LARGE_INTE... 37 Nonsense_Mutation SNP T A uc002tvj.1 Hybrid_Cap... view
LRP1B p.F2221I 2 141457957 141457957 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc002tvj.1 Hybrid_Cap... view
LRRC7 p.V1484A 1 70573454 70573454 HT55_LARGE_INTE... 37 Missense_Mutation SNP T C uc001dep.2 LRRC7_uc009wbg.... Hybrid_Cap... view
MAF 16 79628452 79628452 HT55_LARGE_INTE... 37 Intron SNP T A uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 HT55_LARGE_INTE... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 HT55_LARGE_INTE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.K494M 5 56168525 56168525 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc003jqw.3 Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 HT55_LARGE_INTE... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K1 p.1315_1316EK>D* 5 56180616 56180617 HT55_LARGE_INTE... 37 Nonsense_Mutation DNP GA TT uc003jqw.3 Hybrid_Cap...
MAP3K13 p.I336L 3 185165731 185165731 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc010hyf.2 MAP3K13_uc011br... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 HT55_LARGE_INTE... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK8 p.D277V 10 49634072 49634072 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc009xnz.2 MAPK8_uc001jgl.... Hybrid_Cap... view
MELK p.L282F 9 36643003 36643003 HT55_LARGE_INTE... 37 Missense_Mutation SNP C T uc003zzn.2 MELK_uc011lpm.1... Hybrid_Cap... view
MKNK1 p.L122F 1 47040641 47040641 HT55_LARGE_INTE... 37 Missense_Mutation SNP C A uc001cqb.2 MKNK1_uc010omd.... Hybrid_Cap... view
MLL3 p.G1584R 7 151884843 151884843 HT55_LARGE_INTE... 37 Missense_Mutation SNP C T uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLL3 p.Y816fs 7 151945071 151945072 HT55_LARGE_INTE... 37 Frame_Shift_Ins Ins - T uc003wla.2 Hybrid_Cap...
MN1 p.533_533Q>QQ 22 28194933 28194934 HT55_LARGE_INTE... 37 In_Frame_Ins Ins - TGC rs45480998 uc003adj.2 Hybrid_Cap...
MSN p.T558S X 64959693 64959693 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc004dwf.2 Hybrid_Cap... view
MTUS2 13 30002929 30002929 HT55_LARGE_INTE... 37 Intron SNP C A uc001usl.3 MTUS2_uc001usm.... Hybrid_Cap... view
MYH11 16 15808754 15808754 HT55_LARGE_INTE... 37 Intron SNP C T uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
MYO3B p.K1212* 2 171399474 171399474 HT55_LARGE_INTE... 37 Nonsense_Mutation SNP A T uc002ufy.2 MYO3B_uc010fqb.... Hybrid_Cap... view
MYST2 p.S21P 17 47869293 47869293 HT55_LARGE_INTE... 37 Missense_Mutation SNP T C uc002ipm.2 MYST2_uc002ipl.... Hybrid_Cap... view
NAV3 p.F1961Y 12 78582119 78582119 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 HT55_LARGE_INTE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HT55_LARGE_INTE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 HT55_LARGE_INTE... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K500M 13 52707312 52707312 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 HT55_LARGE_INTE... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NF1 p.R160M 17 29490394 29490394 HT55_LARGE_INTE... 37 Missense_Mutation SNP G T uc002hgg.2 NF1_uc002hge.1_... Hybrid_Cap... view
NLRP3 p.L266I 1 247587541 247587541 HT55_LARGE_INTE... 37 Missense_Mutation SNP C A uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NPR1 1 153665919 153665920 HT55_LARGE_INTE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 HT55_LARGE_INTE... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR4A3 p.R565S 9 102625930 102625930 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc004bai.2 NR4A3_uc004baf.... Hybrid_Cap... view
NTRK3 p.I83L 15 88799138 88799138 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap... view
PAK2 p.N478Y 3 196554148 196554148 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc003fwy.3 Hybrid_Cap... view
PAK3 p.L430H X 110439140 110439140 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc010npv.1 PAK3_uc010npt.1... Hybrid_Cap... view
PAPPA p.E986A 9 119065039 119065039 HT55_LARGE_INTE... 37 Missense_Mutation SNP A C uc004bjn.2 PAPPA_uc011lxp.... Hybrid_Cap... view
PCDH15 p.L1962P 10 55581622 55581622 HT55_LARGE_INTE... 37 Missense_Mutation SNP A G uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PCDH15 p.E1118D 10 55698609 55698609 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PDE4DIP p.V486fs 1 144917828 144917828 HT55_LARGE_INTE... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRB p.S180S 5 149514404 149514404 HT55_LARGE_INTE... 37 Silent SNP A T uc003lro.2 PDGFRB_uc010jhd... Hybrid_Cap... view
PEX5L p.L454R 3 179526217 179526217 HT55_LARGE_INTE... 37 Missense_Mutation SNP A C uc003fki.1 PEX5L_uc011bqd.... Hybrid_Cap... view
PHOX2B p.S107C 4 41749476 41749476 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc003gwf.3 Hybrid_Cap... view
PIK3CD p.G617R 1 9781272 9781272 HT55_LARGE_INTE... 37 Missense_Mutation SNP G C uc001aqe.3 PIK3CD_uc001aqb... Hybrid_Cap... view
PKMYT1 p.R459R 16 3023150 3023150 HT55_LARGE_INTE... 37 Silent SNP C T uc002csn.2 PAQR4_uc002csj.... Hybrid_Cap... view
PLCG1 p.Q677R 20 39795145 39795145 HT55_LARGE_INTE... 37 Missense_Mutation SNP A G uc002xjo.1 PLCG1_uc002xjp.... Hybrid_Cap... view
PMS1 p.S204* 2 190708718 190708718 HT55_LARGE_INTE... 37 Nonsense_Mutation SNP C G uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap... view
PRKD3 2 37480319 37480320 HT55_LARGE_INTE... 37 Stop_Codon_Ins Ins - T rs79875666 uc002rqd.2 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 HT55_LARGE_INTE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTK2B p.E577K 8 27296633 27296633 HT55_LARGE_INTE... 37 Missense_Mutation SNP G A uc003xfn.1 PTK2B_uc003xfo.... Hybrid_Cap... view
PTK6 p.I292V 20 62162239 62162239 HT55_LARGE_INTE... 37 Missense_Mutation SNP T C uc002yfg.2 PTK6_uc011aay.1... Hybrid_Cap... view
RAD21 8 117859682 117859682 HT55_LARGE_INTE... 37 3'UTR SNP T A uc003yod.2 Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 HT55_LARGE_INTE... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIMS2 p.S570_splice 8 104948777 104948777 HT55_LARGE_INTE... 37 Splice_Site_SNP SNP A T uc003yls.2 RIMS2_uc003ylp.... Hybrid_Cap... view
ROS1 p.P675Q 6 117708153 117708153 HT55_LARGE_INTE... 37 Missense_Mutation SNP G T uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPS6KA2 p.S571C 6 166836851 166836851 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc003qvd.1 RPS6KA2_uc011eg... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 HT55_LARGE_INTE... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SERPINA12 14 94953636 94953636 HT55_LARGE_INTE... 37 3'UTR SNP T A uc001ydj.2 Hybrid_Cap... view
SERPINB4 p.C364* 18 61305034 61305034 HT55_LARGE_INTE... 37 Nonsense_Mutation SNP A T uc002ljf.2 SERPINB4_uc002l... Hybrid_Cap... view
SET p.E200A 9 131455984 131455984 HT55_LARGE_INTE... 37 Missense_Mutation SNP A C uc004bvt.3 SET_uc004bvu.3_... Hybrid_Cap... view
SKIL p.L348F 3 170079163 170079163 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc003fgu.2 SKIL_uc011bps.1... Hybrid_Cap... view
SKP2 p.V371L 5 36181969 36181969 HT55_LARGE_INTE... 37 Missense_Mutation SNP G T uc003jkc.1 SKP2_uc011cou.1... Hybrid_Cap... view
SNX19 p.S317C 11 130784886 130784886 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A rs117260465 uc001qgk.3 SNX19_uc010sce.... Hybrid_Cap... view
STK39 p.Q338L 2 168986230 168986230 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc002uea.2 Hybrid_Cap... view
SULF1 p.D375H 8 70515488 70515488 HT55_LARGE_INTE... 37 Missense_Mutation SNP G C uc010lza.1 SULF1_uc003xyd.... Hybrid_Cap... view
TAF1L p.K354I 9 32634517 32634517 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc003zrg.1 Hybrid_Cap... view
TAOK2 p.I750V 16 30000929 30000929 HT55_LARGE_INTE... 37 Missense_Mutation SNP A G uc002dvc.1 BOLA2_uc010bzb.... Hybrid_Cap... view
TCERG1L p.K428* 10 132915175 132915175 HT55_LARGE_INTE... 37 Nonsense_Mutation SNP T A uc001lkp.2 TCERG1L_uc009ya... Hybrid_Cap... view
TET1 p.Q186H 10 70332653 70332653 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc001jok.3 Hybrid_Cap... view
TNFRSF1B p.E446V 1 12267028 12267029 HT55_LARGE_INTE... 37 Missense_Mutation DNP AG TT uc001att.2 TNFRSF1B_uc001a... Hybrid_Cap...
TNFSF10 p.K145* 3 172224695 172224695 HT55_LARGE_INTE... 37 Nonsense_Mutation SNP T A uc003fid.2 TNFSF10_uc003fi... Hybrid_Cap... view
TNNI3K p.D466Y 1 74819729 74819729 HT55_LARGE_INTE... 37 Missense_Mutation SNP G T uc001dge.1 TNNI3K_uc001dgc... Hybrid_Cap... view
TOP1 p.D182A 20 39713139 39713139 HT55_LARGE_INTE... 37 Missense_Mutation SNP A C uc002xjl.2 TOP1_uc010gge.1... Hybrid_Cap... view
TP63 3 189507518 189507519 HT55_LARGE_INTE... 37 Intron Ins - AG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940215 114940216 HT55_LARGE_INTE... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRIM42 p.V621_splice 3 140409808 140409808 HT55_LARGE_INTE... 37 Splice_Site_SNP SNP A T uc003eto.1 Hybrid_Cap... view
TRPM6 p.Q773L 9 77411730 77411730 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TRPS1 p.K198I 8 116631732 116631732 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 HT55_LARGE_INTE... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTK p.A205_splice 6 80721149 80721149 HT55_LARGE_INTE... 37 Splice_Site_SNP SNP A T uc003pjc.2 TTK_uc003pjb.3_... Hybrid_Cap... view
TTN p.V12657D 2 179485663 179485663 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 HT55_LARGE_INTE... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VRK2 2 58359074 58359074 HT55_LARGE_INTE... 37 Intron SNP T A uc002rzo.2 VRK2_uc010fcb.2... Hybrid_Cap... view
WDHD1 p.E721V 14 55434014 55434014 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc001xbm.1 WDHD1_uc010aom.... Hybrid_Cap... view
WIF1 p.R187* 12 65461550 65461550 HT55_LARGE_INTE... 37 Nonsense_Mutation SNP G A uc001ssk.2 Hybrid_Cap... view
WNK2 p.I340F 9 95993333 95993333 HT55_LARGE_INTE... 37 Missense_Mutation SNP A T uc004ati.1 WNK2_uc011lud.1... Hybrid_Cap... view
WNK2 p.S1124T 9 96024961 96024961 HT55_LARGE_INTE... 37 Missense_Mutation SNP T A uc004ati.1 WNK2_uc011lud.1... Hybrid_Cap... view