Annotation Summary for Cell Line: LoVo  

Cell line primary name: LoVo
Cell line aliases:
Gender: M
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: ATCC
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_E09_296102
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_D05_293360
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in LoVo

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABI1 10 27037488 27037488 LOVO_LARGE_INTE... 37 3'UTR Del A - rs75446996 uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ABL2 1 179086420 179086420 LOVO_LARGE_INTE... 37 Intron Del A - uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ACACA p.R1408C 17 35549225 35549225 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ACACA 17 35766564 35766564 LOVO_LARGE_INTE... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ACVR2A p.K435fs 2 148683686 148683686 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap...
ACVR2B p.Y126Y 3 38519639 38519639 LOVO_LARGE_INTE... 37 Silent SNP C T uc003cif.2 ACVR2B_uc003cig... Hybrid_Cap... view
ADAM22 7 87811365 87811365 LOVO_LARGE_INTE... 37 3'UTR SNP A C uc003ujk.1 ADAM22_uc003ujl... Hybrid_Cap... view
ADAM28 8 24211994 24211997 LOVO_LARGE_INTE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM32 8 39142380 39142380 LOVO_LARGE_INTE... 37 3'UTR SNP T C uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap... view
AFF4 p.K166fs 5 132270258 132270259 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - T rs35626495 uc003kyd.2 AFF4_uc011cxk.1... Hybrid_Cap...
AIFM3 p.V495M 22 21333565 21333565 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002ztj.2 AIFM3_uc002ztk.... Hybrid_Cap... view
AIM1 p.S836P 6 106968813 106968813 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C uc003prh.2 Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 LOVO_LARGE_INTE... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.I598fs 7 91631025 91631025 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 LOVO_LARGE_INTE... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKAP9 p.E2120fs 7 91699371 91699372 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - A uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap...
AKT2 p.A173T 19 40747901 40747901 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc002onf.2 AKT2_uc010egs.2... Hybrid_Cap... view
AKT2 p.R144Q 19 40748451 40748451 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc002onf.2 AKT2_uc010egs.2... Hybrid_Cap... view
APAF1 p.F707S 12 99076994 99076994 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C uc001tfz.2 APAF1_uc001tfy.... Hybrid_Cap... view
APC p.R1114* 5 112174631 112174631 LOVO_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.T1430fs 5 112175580 112175580 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del C - uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
APC p.R2816Q 5 112179738 112179738 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ARFGEF1 8 68117065 68117066 LOVO_LARGE_INTE... 37 Intron Ins - CC uc003xxo.1 ARFGEF1_uc003xx... Hybrid_Cap...
ARHGAP29 1 94643144 94643144 LOVO_LARGE_INTE... 37 Intron Del T - uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap...
ARID1A p.P2139fs 1 27106804 27106804 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del C - uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
ASPH 8 62538821 62538821 LOVO_LARGE_INTE... 37 Intron Del T - uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ATP10A p.V817_splice 15 25953250 25953250 LOVO_LARGE_INTE... 37 Splice_Site_SNP SNP C A uc010ayu.2 Hybrid_Cap... view
ATP8B1 p.E831del 18 55328620 55328622 LOVO_LARGE_INTE... 37 In_Frame_Del Del TTC - uc002lgw.2 Hybrid_Cap...
ATP8B1 p.K504R 18 55351387 55351387 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C uc002lgw.2 Hybrid_Cap... view
AXIN2 p.R538W 17 63533542 63533542 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002jfi.2 AXIN2_uc002jfh.... Hybrid_Cap... view
BAI3 p.K50* 6 69348715 69348715 LOVO_LARGE_INTE... 37 Nonsense_Mutation SNP A T uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAT3 p.P396fs 6 31612922 31612923 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - G uc003nvg.3 BAT3_uc003nvf.3... Hybrid_Cap...
BAT3 p.P115fs 6 31617054 31617055 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - G uc003nvg.3 BAT3_uc003nvf.3... Hybrid_Cap...
BAX p.M38fs 19 49458971 49458971 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del G - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BAX 19 49464508 49464510 LOVO_LARGE_INTE... 37 3'UTR Del TTT - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BCL10 p.I46fs 1 85736510 85736511 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - T uc001dkz.2 Hybrid_Cap...
BIRC6 p.D3681N 2 32740529 32740529 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc010ezu.2 Hybrid_Cap... view
BLM p.G512fs 15 91304139 91304139 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap...
BLNK 10 97951715 97951715 LOVO_LARGE_INTE... 37 3'UTR Del T - uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap...
BMPR2 p.E581fs 2 203420130 203420130 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap...
BTG1 12 92537707 92537707 LOVO_LARGE_INTE... 37 3'UTR Del T - uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
BUB1 2 111395467 111395468 LOVO_LARGE_INTE... 37 3'UTR Ins - A uc002tgc.2 BUB1_uc010yxh.1... Hybrid_Cap...
C6ORF97 p.D565N 6 151917695 151917695 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc003qol.2 Hybrid_Cap... view
CABC1 1 227171736 227171737 LOVO_LARGE_INTE... 37 Intron Ins - T rs1574184 uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CAD p.G1908C 2 27464009 27464009 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G T uc002rji.2 CAD_uc010eyw.2_... Hybrid_Cap... view
CAMKK2 p.R91W 12 121712059 121712059 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc001tzu.2 CAMKK2_uc001tzt... Hybrid_Cap... view
CASC5 p.N1423K 15 40916653 40916653 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T A uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap... view
CASP4 11 104822590 104822590 LOVO_LARGE_INTE... 37 Intron Del T - uc001pid.1 CASP4_uc001pib.... Hybrid_Cap...
CASP8 p.R292W 2 202141586 202141586 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc002uxt.1 CASP8_uc002uxo.... Hybrid_Cap... view
CCND2 12 4409271 4409271 LOVO_LARGE_INTE... 37 3'UTR Del A - uc001qmo.2 Hybrid_Cap...
CD160 p.R122C 1 145704053 145704053 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc001eol.1 NBPF10_uc001emp... Hybrid_Cap... view
CDC25A p.R520H 3 48200451 48200451 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc003csh.1 CDC25A_uc003csi... Hybrid_Cap... view
CDC25C p.K322fs 5 137627690 137627690 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del T - uc003lcs.1 CDC25C_uc003lcp... Hybrid_Cap...
CDC42BPA p.P1696fs 1 227182042 227182042 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del G - uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap...
CDK9 9 130551828 130551828 LOVO_LARGE_INTE... 37 3'UTR SNP G A uc004bse.2 Hybrid_Cap... view
CDKL4 p.N121_splice 2 39440540 39440540 LOVO_LARGE_INTE... 37 Splice_Site_SNP SNP C T uc010fal.1 CDKL4_uc002rrm.... Hybrid_Cap... view
CEP110 p.P1298fs 9 123912690 123912690 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del C - uc004bkx.1 CEP110_uc004bky... Hybrid_Cap...
CHD1 p.R191T 5 98236905 98236905 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C G rs61756299 uc003knf.2 Hybrid_Cap... view
CHD9 p.E2207_splice 16 53338539 53338539 LOVO_LARGE_INTE... 37 Splice_Site_SNP SNP T C uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHEK1 11 125525427 125525427 LOVO_LARGE_INTE... 37 3'UTR SNP G T uc009zbo.2 CHEK1_uc010sbh.... Hybrid_Cap... view
CHL1 p.H784P 3 431038 431038 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A C uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CIC p.A1521T 19 42799077 42799077 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002otf.1 Hybrid_Cap... view
CIT p.L981I 12 120180233 120180233 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G T uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CLTC p.Q1146H 17 57759184 57759184 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G T uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 LOVO_LARGE_INTE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL3A1 p.G1131S 2 189872638 189872638 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002uqj.1 Hybrid_Cap... view
CREB1 p.P75Q 2 208425059 208425059 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C A uc002vcc.2 CREB1_uc010ziz.... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 LOVO_LARGE_INTE... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CREBBP p.T573A 16 3830839 3830839 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CRTC1 p.S585fs 19 18887993 18887993 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del C - uc010ebv.2 CRTC1_uc002nkb.... Hybrid_Cap...
CRTC1 p.L215I 19 18864366 18864366 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C A uc010ebv.2 CRTC1_uc002nkb.... Hybrid_Cap... view
CSF3 p.T31fs 17 38171995 38171995 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del C - uc002htp.2 CSF3_uc002hto.2... Hybrid_Cap...
CSNK1G3 p.D294fs 5 122926143 122926144 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - T uc003ktl.2 CSNK1G3_uc003kt... Hybrid_Cap...
CSPG4 p.Q1515K 15 75975289 75975289 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G T uc002baw.2 Hybrid_Cap... view
CTBP2 p.T605M 10 126691926 126691926 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A rs3198932 uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CUBN p.T1423M 10 17032415 17032415 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc001ioo.2 Hybrid_Cap... view
CYB5R4 p.S476P 6 84665096 84665096 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C uc003pkf.2 Hybrid_Cap... view
CYP17A1 10 104590294 104590294 LOVO_LARGE_INTE... 37 3'UTR Del A - uc001kwg.2 C10orf26_uc009x... Hybrid_Cap...
DAPK1 p.A40A 9 90219926 90219926 LOVO_LARGE_INTE... 37 Silent SNP C A uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap... view
DAPK2 15 64221945 64221945 LOVO_LARGE_INTE... 37 Intron SNP C T uc002amr.2 DAPK2_uc010uim.... Hybrid_Cap... view
DDB2 p.Y356C 11 47259431 47259431 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A G uc001neb.2 DDB2_uc001nec.2... Hybrid_Cap... view
DDR1 p.V100A 6 30857089 30857089 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C rs34544756 uc003nrv.2 DDR1_uc010jse.2... Hybrid_Cap... view
DLC1 p.L603I 8 12958039 12958039 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G T uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
DPYD p.Y238N 1 98157323 98157323 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A T uc001drv.2 DPYD_uc010oub.1... Hybrid_Cap... view
DST p.K2486fs 6 56434717 56434717 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del T - uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap...
DST p.A2086T 6 56458574 56458574 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EDNRA 4 148406767 148406767 LOVO_LARGE_INTE... 37 5'UTR Del A - uc003iky.2 EDNRA_uc011cid.... Hybrid_Cap...
EEF1D p.E676D 8 144662209 144662209 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C A uc003yyq.1 NAPRT1_uc003yym... Hybrid_Cap... view
EGF p.R170_splice 4 110864997 110864997 LOVO_LARGE_INTE... 37 Splice_Site_SNP SNP G A uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap... view
EHBP1 p.I753fs 2 63176135 63176136 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - A uc002sby.2 EHBP1_uc010fcp.... Hybrid_Cap...
EIF2AK3 p.G327* 2 88890359 88890359 LOVO_LARGE_INTE... 37 Nonsense_Mutation SNP C A uc002stc.3 Hybrid_Cap... view
EIF3A p.R190H 10 120830570 120830570 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc001ldu.2 EIF3A_uc010qsu.... Hybrid_Cap... view
EIF3H p.G140D 8 117671132 117671132 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc003yob.2 EIF3H_uc003yoa.... Hybrid_Cap... view
EIF4A2 3 186506769 186506769 LOVO_LARGE_INTE... 37 Intron SNP T C uc003fqu.2 EIF4A2_uc003fqs... Hybrid_Cap... view
ELK1 X 47500596 47500596 LOVO_LARGE_INTE... 37 Intron Del G - uc004dik.3 ELK1_uc010nhv.2... Hybrid_Cap...
EPHA10 1 38184012 38184012 LOVO_LARGE_INTE... 37 3'UTR SNP C T uc009vvi.2 EPHA10_uc001cbt... Hybrid_Cap... view
EPHA3 p.A896T 3 89499516 89499516 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc003dqy.2 EPHA3_uc010hon.... Hybrid_Cap... view
EPHA6 p.P26R 3 96533544 96533544 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C G uc010how.1 EPHA6_uc003drp.... Hybrid_Cap... view
EPHA6 p.G348E 3 96706766 96706766 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc010how.1 EPHA6_uc003drp.... Hybrid_Cap... view
EPHB4 p.A509A 7 100414875 100414875 LOVO_LARGE_INTE... 37 Silent SNP C T uc003uwn.1 EPHB4_uc003uwm.... Hybrid_Cap... view
EPHB4 p.R105C 7 100421364 100421364 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc003uwn.1 EPHB4_uc003uwm.... Hybrid_Cap... view
EPS15 1 51822220 51822221 LOVO_LARGE_INTE... 37 3'UTR Del AA - uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap...
EPS15 1 51822176 51822176 LOVO_LARGE_INTE... 37 3'UTR SNP C T uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap... view
ERBB4 p.R782Q 2 212426770 212426770 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ERCC3 p.Q711R 2 128016957 128016957 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C uc002toh.1 ERCC3_uc002toe.... Hybrid_Cap... view
ERCC6 p.P591P 10 50701211 50701211 LOVO_LARGE_INTE... 37 Silent SNP C T uc001jhs.3 ERCC6_uc010qgr.... Hybrid_Cap... view
ERG p.P411fs 21 39755554 39755554 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del G - uc010gnw.2 ERG_uc002yxa.2_... Hybrid_Cap...
EWSR1 22 29687622 29687622 LOVO_LARGE_INTE... 37 Intron Del A - uc003aev.2 EWSR1_uc003aet.... Hybrid_Cap...
FANCA p.R350W 16 89858914 89858914 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002fou.1 FANCA_uc010vpn.... Hybrid_Cap... view
FBN1 p.S687G 15 48796038 48796038 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C uc001zwx.1 Hybrid_Cap... view
FBXW7 p.R505C 4 153247289 153247289 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FGF19 p.R151W 11 69514230 69514230 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc001opf.2 Hybrid_Cap... view
FGFR3 p.I534V 4 1807345 1807345 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A G uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap... view
FGFR3 4 1809128 1809129 LOVO_LARGE_INTE... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FIP1L1 4 54245170 54245170 LOVO_LARGE_INTE... 37 Intron Del T - uc003gzy.2 PDGFRA_uc003haa... Hybrid_Cap...
FLCN p.R362C 17 17120475 17120475 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002gra.3 PLD6_uc010cpn.2... Hybrid_Cap... view
FLI1 11 128638217 128638217 LOVO_LARGE_INTE... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT1 p.K171fs 13 29012359 29012359 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del T - uc001usb.3 FLT1_uc010aar.1... Hybrid_Cap...
FLT4 p.R679Q 5 180048237 180048237 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
FN1 p.P2075L 2 216238068 216238068 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FN1 2 216244182 216244185 LOVO_LARGE_INTE... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FN1 p.R1482R 2 216251578 216251578 LOVO_LARGE_INTE... 37 Silent SNP G T uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FNBP1 9 132658079 132658080 LOVO_LARGE_INTE... 37 Intron Del TT - uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap...
FOXP1 3 71008342 71008343 LOVO_LARGE_INTE... 37 3'UTR Del TT - rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
FURIN p.L428fs 15 91423121 91423121 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del T - uc002bpu.1 Hybrid_Cap...
FZD1 p.93_94insP 7 90894459 90894460 LOVO_LARGE_INTE... 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GAS7 17 10101720 10101720 LOVO_LARGE_INTE... 37 5'UTR SNP C T uc002gmg.1 Hybrid_Cap... view
GCNT2 6 10557410 10557410 LOVO_LARGE_INTE... 37 Intron Del C - uc010joo.2 GCNT2_uc010jol.... Hybrid_Cap...
GCNT2 6 10586955 10586955 LOVO_LARGE_INTE... 37 Intron Del A - uc010joo.2 GCNT2_uc010jol.... Hybrid_Cap...
GLG1 p.R394H 16 74526908 74526908 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc002fcx.2 GLG1_uc002fcy.3... Hybrid_Cap... view
GMPS p.Y526N 3 155649569 155649569 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T A uc003faq.2 GMPS_uc011bom.1... Hybrid_Cap... view
GOLPH3 p.F197fs 5 32126624 32126624 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003jhp.1 Hybrid_Cap...
GRIA3 X 122318386 122318387 LOVO_LARGE_INTE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRK7 p.W517* 3 141535781 141535781 LOVO_LARGE_INTE... 37 Nonsense_Mutation SNP G A uc011bnd.1 Hybrid_Cap... view
GSK3A p.R95_splice 19 42744296 42744297 LOVO_LARGE_INTE... 37 Splice_Site_Ins Ins - G uc002otb.1 GSK3A_uc002ota.... Hybrid_Cap...
GTSE1 p.R562W 22 46722511 46722511 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc011aqy.1 GTSE1_uc011aqz.... Hybrid_Cap... view
GUCY1A2 p.Q541R 11 106680789 106680789 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C uc009yxn.1 GUCY1A2_uc001pj... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 LOVO_LARGE_INTE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC4 p.A706T 2 240024574 240024574 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc002vyk.3 HDAC4_uc010fyz.... Hybrid_Cap... view
HECW1 p.R1297Q 7 43548591 43548591 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HIP1 7 75167475 75167475 LOVO_LARGE_INTE... 37 3'UTR SNP T G uc003uds.1 HIP1_uc011kfz.1... Hybrid_Cap... view
HNF1B 17 36104911 36104911 LOVO_LARGE_INTE... 37 5'UTR Del G - uc002hok.3 HNF1B_uc010wdi.... Hybrid_Cap...
HSF1 p.R106C 8 145533230 145533230 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc003zbt.3 HSF1_uc003zbu.3... Hybrid_Cap... view
HSP90AA1 p.T688fs 14 102549430 102549430 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del T - uc001ykv.3 HSP90AA1_uc001y... Hybrid_Cap...
HSP90AA1 14 102552736 102552736 LOVO_LARGE_INTE... 37 Intron SNP T C uc001ykv.3 HSP90AA1_uc001y... Hybrid_Cap... view
HUNK p.T260M 21 33331187 33331187 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc002yph.2 Hybrid_Cap... view
IDH1 p.I5fs 2 209116262 209116263 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - T uc002vcs.2 IDH1_uc002vct.2... Hybrid_Cap...
IGFBP5 2 217541460 217541461 LOVO_LARGE_INTE... 37 3'UTR Ins - G uc002vgj.3 Hybrid_Cap...
IKBKB 8 42176976 42176976 LOVO_LARGE_INTE... 37 Intron Del T - uc003xow.1 IKBKB_uc010lxh.... Hybrid_Cap...
ILK 11 6630029 6630029 LOVO_LARGE_INTE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INHBA 7 41729111 41729112 LOVO_LARGE_INTE... 37 3'UTR Ins - T rs116913029 uc003thq.2 INHBA_uc003thr.... Hybrid_Cap...
INPP5D p.S702R 2 234091088 234091088 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A C uc010zmo.1 INPP5D_uc010zmp... Hybrid_Cap... view
IRAK4 12 44180569 44180569 LOVO_LARGE_INTE... 37 3'UTR Del T - uc001rnu.3 IRAK4_uc001rnt.... Hybrid_Cap...
IRS1 p.G40fs 2 227663336 227663336 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del C - uc002voh.3 Hybrid_Cap...
ITGA10 p.E542fs 1 145534121 145534122 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - C uc001eoa.2 NBPF10_uc001emp... Hybrid_Cap...
ITGB4 p.R1665Q 17 73752881 73752881 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 LOVO_LARGE_INTE... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAG1 p.R1116W 20 10620457 10620457 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002wnw.2 Hybrid_Cap... view
JARID2 p.S1038R 6 15512598 15512598 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A C uc003nbj.2 JARID2_uc011div... Hybrid_Cap... view
JARID2 6 15520515 15520515 LOVO_LARGE_INTE... 37 3'UTR Del T - uc003nbj.2 JARID2_uc011div... Hybrid_Cap...
KIAA0802 p.E94K 18 8720417 8720417 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002knr.2 KIAA0802_uc002k... Hybrid_Cap... view
KIAA1409 p.K1336fs 14 94088050 94088050 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap...
KIAA1549 p.I1489fs 7 138555984 138555987 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del GGCG - uc011kql.1 KIAA1549_uc011k... Hybrid_Cap...
KIAA1549 p.R1342H 7 138579095 138579095 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc011kql.1 KIAA1549_uc011k... Hybrid_Cap... view
KIAA1549 p.L283fs 7 138603524 138603524 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc011kql.1 KIAA1549_uc003v... Hybrid_Cap...
KIAA1804 p.R470C 1 233497895 233497895 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc001hvt.3 KIAA1804_uc001h... Hybrid_Cap... view
KIAA1804 p.A922D 1 233518111 233518111 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C A uc001hvt.3 KIAA1804_uc001h... Hybrid_Cap... view
KLK7 19 51480672 51480675 LOVO_LARGE_INTE... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KRAS p.G13D 12 25398281 25398281 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T rs112445441 uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
KSR1 p.P152fs 17 25910016 25910016 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del C - uc010crg.2 KSR1_uc002gzj.1... Hybrid_Cap...
LAMP1 p.R298W 13 113975734 113975734 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc001vtm.1 LAMP1_uc010tka.... Hybrid_Cap... view
LATS2 p.P516L 13 21562372 21562372 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap... view
LATS2 13 21620223 21620223 LOVO_LARGE_INTE... 37 5'UTR Del A - rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LDLR p.V523M 19 11224419 11224419 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A rs28942080 uc002mqk.3 LDLR_uc010xlk.1... Hybrid_Cap... view
LIF p.N95N 22 30639964 30639964 LOVO_LARGE_INTE... 37 Silent SNP G A uc003agz.2 LIF_uc011aks.1_... Hybrid_Cap... view
LIMK1 p.R634H 7 73535588 73535588 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc003uaa.1 RFC2_uc011kfa.1... Hybrid_Cap... view
LMNA p.A434T 1 156106147 156106147 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc001fni.2 LMNA_uc001fnf.1... Hybrid_Cap... view
LMTK2 p.L50fs 7 97766672 97766673 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del TG - uc003upd.1 Hybrid_Cap...
LMTK3 19 48988848 48988848 LOVO_LARGE_INTE... 37 3'UTR Del G - uc002pjk.2 Hybrid_Cap...
LRGUK p.N476D 7 133876498 133876498 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A G uc003vrm.1 Hybrid_Cap... view
LRP1 p.C936fs 12 57560723 57560723 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del C - uc001snd.2 LRP1_uc009zph.1... Hybrid_Cap...
LRP1B p.I3155T 2 141232868 141232868 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A G uc002tvj.1 Hybrid_Cap... view
LRP1B p.I2362V 2 141356310 141356310 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C uc002tvj.1 Hybrid_Cap... view
LRP1B p.G485fs 2 141812783 141812783 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del C - uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap...
LRP2 p.Q2211* 2 170063599 170063599 LOVO_LARGE_INTE... 37 Nonsense_Mutation SNP G A uc002ues.2 Hybrid_Cap... view
LRP6 p.L317P 12 12336940 12336940 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A G uc001rah.3 BCL2L14_uc001ra... Hybrid_Cap... view
LRRK1 p.S942A 15 101569298 101569298 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T G uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
LZTR1 p.C566C 22 21348929 21348929 LOVO_LARGE_INTE... 37 Silent SNP C T uc002zto.2 LZTR1_uc002ztn.... Hybrid_Cap... view
MAK p.N596fs 6 10764770 10764770 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del T - uc003mzl.2 SYCP2L_uc011dim... Hybrid_Cap...
MALT1 p.E368K 18 56390363 56390363 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002lhm.1 MALT1_uc002lhn.... Hybrid_Cap... view
MALT1 p.R551* 18 56409144 56409144 LOVO_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc002lhm.1 MALT1_uc002lhn.... Hybrid_Cap... view
MAML1 p.P475H 5 179193435 179193435 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C A uc003mkm.2 MAML1_uc003mkn.... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 LOVO_LARGE_INTE... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 LOVO_LARGE_INTE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K3 17 21217724 21217724 LOVO_LARGE_INTE... 37 3'UTR SNP C T uc002gys.2 MAP2K3_uc002gyt... Hybrid_Cap... view
MAP2K7 p.R242H 19 7975914 7975914 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002miv.2 MAP2K7_uc010xka... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 LOVO_LARGE_INTE... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 LOVO_LARGE_INTE... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K3 17 61771225 61771225 LOVO_LARGE_INTE... 37 3'UTR SNP G A uc002jbe.2 MAP3K3_uc002jbf... Hybrid_Cap... view
MAP3K7 6 91226170 91226170 LOVO_LARGE_INTE... 37 3'UTR Del A - uc003pnz.1 MAP3K7_uc003pny... Hybrid_Cap...
MAP4K4 p.R978W 2 102490597 102490597 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc002tbc.2 MAP4K4_uc002tbd... Hybrid_Cap... view
MAPK12 22 50694445 50694445 LOVO_LARGE_INTE... 37 Intron SNP C T uc003bkm.1 MAPK12_uc003bkn... Hybrid_Cap... view
MAPK8IP2 p.R652H 22 51044103 51044103 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc003bmx.2 MAPK8IP2_uc003b... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 LOVO_LARGE_INTE... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42111746 42111747 LOVO_LARGE_INTE... 37 Intron Del GG - rs60875657 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MAST2 p.K257T 1 46471935 46471935 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A C uc001cov.2 MAST2_uc001cow.... Hybrid_Cap... view
MED13L p.Y261C 12 116457621 116457621 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C uc001tvw.2 Hybrid_Cap... view
MEN1 p.R485Q 11 64572200 64572200 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc001obj.2 MAP4K2_uc001obh... Hybrid_Cap... view
MKL1 p.G473R 22 40815025 40815025 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc003ayv.1 MKL1_uc003ayw.1... Hybrid_Cap... view
MKL1 p.P307fs 22 40816541 40816542 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - G uc003ayv.1 MKL1_uc003ayw.1... Hybrid_Cap...
MKRN3 p.G131D 15 23811321 23811321 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc001ywh.3 MKRN3_uc001ywi.... Hybrid_Cap... view
MLKL p.T246S 16 74719467 74719467 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G C uc002fdb.2 MLKL_uc002fdc.2... Hybrid_Cap... view
MLL3 7 151834062 151834062 LOVO_LARGE_INTE... 37 Intron SNP G A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLL3 p.K2797fs 7 151874148 151874148 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del T - uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap...
MLL3 p.E1313K 7 151902215 151902215 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLL3 p.C1013R 7 151921641 151921641 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A G uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLLT3 9 20346378 20346379 LOVO_LARGE_INTE... 37 3'UTR Del AA - uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MLLT3 p.167_168SS>S 9 20414341 20414343 LOVO_LARGE_INTE... 37 In_Frame_Del Del CTA - uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MN1 p.M557V 22 28194863 28194863 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C uc003adj.2 Hybrid_Cap... view
MPPED2 p.P146T 11 30516943 30516943 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G T uc001msr.2 MPPED2_uc001msq... Hybrid_Cap... view
MSH3 p.L795H 5 80074604 80074604 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T A uc003kgz.2 Hybrid_Cap... view
MTMR11 1 149900796 149900796 LOVO_LARGE_INTE... 37 3'UTR Del A - uc001etl.3 SF3B4_uc001eti.... Hybrid_Cap...
MTOR p.V1938_splice 1 11188611 11188611 LOVO_LARGE_INTE... 37 Splice_Site_SNP SNP T C uc001asd.2 MTOR_uc001asc.2... Hybrid_Cap... view
MYH1 p.L1866P 17 10397741 10397741 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A G uc002gmo.2 Hybrid_Cap... view
MYLK3 p.G623V 16 46761194 46761194 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C A uc002eei.3 MYLK3_uc010vge.... Hybrid_Cap... view
N4BP2 p.K1648fs 4 40144449 40144449 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003guy.3 N4BP2_uc010ifq.... Hybrid_Cap...
NACA p.P1057fs 12 57112143 57112143 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del G - uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap...
NBN p.L490fs 8 90965848 90965848 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003yej.1 NBN_uc003yei.1_... Hybrid_Cap...
NCAM1 11 112832277 112832277 LOVO_LARGE_INTE... 37 5'UTR Del G - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832307 112832308 LOVO_LARGE_INTE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 LOVO_LARGE_INTE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAPD3 p.Q909fs 11 134048585 134048586 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - G uc001qhd.1 NCAPD3_uc010scm... Hybrid_Cap...
NEK11 p.Q322fs 3 130881254 130881254 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003eny.2 NEK11_uc003enx.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 LOVO_LARGE_INTE... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK5 p.T185M 13 52682454 52682454 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc001vge.2 NEK5_uc001vgf.2... Hybrid_Cap... view
NEK9 14 75558382 75558382 LOVO_LARGE_INTE... 37 Intron SNP A G uc001xrl.2 NEK9_uc001xrj.2... Hybrid_Cap... view
NEK9 p.C539Y 14 75570660 75570660 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc001xrl.2 NEK9_uc001xrk.2... Hybrid_Cap... view
NEK9 14 75573065 75573075 LOVO_LARGE_INTE... 37 Intron Del AAAAA... - uc001xrl.2 NEK9_uc001xrk.2... Hybrid_Cap...
NF1 p.R711R 17 29553584 29553584 LOVO_LARGE_INTE... 37 Silent SNP C T uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NF1 p.R1695Q 17 29653086 29653086 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NFIA 1 61921199 61921199 LOVO_LARGE_INTE... 37 3'UTR Del A - rs74089375 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NFKB2 10 104155612 104155612 LOVO_LARGE_INTE... 37 Intron Del C - uc001kvb.2 NFKB2_uc001kva.... Hybrid_Cap...
NFKBIA 14 35871169 35871169 LOVO_LARGE_INTE... 37 3'UTR Del T - uc001wtf.3 NFKBIA_uc001wte... Hybrid_Cap...
NIPBL p.K601fs 5 36985083 36985083 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap...
NIPBL 5 37051862 37051863 LOVO_LARGE_INTE... 37 Intron Del TT - uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap...
NIPBL p.A2698V 5 37064672 37064672 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NIPBL 5 37065070 37065070 LOVO_LARGE_INTE... 37 3'UTR Del A - uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap...
NLRP1 p.E40D 17 5487158 5487158 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C A uc002gci.2 NLRP1_uc002gcg.... Hybrid_Cap... view
NOS2 p.P797fs 17 26092599 26092600 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - T uc002gzu.2 Hybrid_Cap...
NOS3 p.T669I 7 150704258 150704258 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc003wif.2 NOS3_uc011kuy.1... Hybrid_Cap... view
NOTCH4 6 32170465 32170465 LOVO_LARGE_INTE... 37 Intron Del G - uc003obb.2 NOTCH4_uc003oba... Hybrid_Cap...
NPR1 1 153665919 153665920 LOVO_LARGE_INTE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 LOVO_LARGE_INTE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.F243del 19 50882029 50882031 LOVO_LARGE_INTE... 37 In_Frame_Del Del CTT - uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR2F1 p.S330P 5 92924147 92924147 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C uc003kkj.2 Hybrid_Cap... view
NUP214 p.P941H 9 134039460 134039460 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C A uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
NUP214 9 134067557 134067566 LOVO_LARGE_INTE... 37 Intron Del TTTTT... - uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
NUP214 p.A1524V 9 134073452 134073452 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
NUP214 p.G1605C 9 134073694 134073694 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G T uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
NYNRIN p.A1660T 14 24885933 24885933 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc001wpf.3 Hybrid_Cap... view
OBSCN p.E7366G 1 228560576 228560576 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A G uc009xez.1 OBSCN_uc001hsr.... Hybrid_Cap... view
OMD 9 95179845 95179845 LOVO_LARGE_INTE... 37 5'UTR Del T - uc004asd.3 CENPP_uc004arz.... Hybrid_Cap...
PAK4 p.T332fs 19 39664547 39664547 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del C - uc002okj.1 PAK4_uc002okl.1... Hybrid_Cap...
PAX3 2 223066039 223066039 LOVO_LARGE_INTE... 37 Intron Del T - uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158425 223158426 LOVO_LARGE_INTE... 37 Intron Del CT - uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 LOVO_LARGE_INTE... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 p.P321fs 9 36882050 36882050 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del G - uc003zzo.1 PAX5_uc011lpt.1... Hybrid_Cap...
PAXIP1 p.F100fs 7 154782740 154782740 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003wlp.2 PAXIP1_uc003wlq... Hybrid_Cap...
PBX1 1 164816108 164816108 LOVO_LARGE_INTE... 37 3'UTR Del T - rs14832 uc001gct.2 PBX1_uc010pku.1... Hybrid_Cap...
PDE4DIP 1 144902915 144902915 LOVO_LARGE_INTE... 37 Intron SNP T C uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDE4DIP p.L527I 1 144917525 144917525 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G T uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDK4 7 95225673 95225673 LOVO_LARGE_INTE... 37 5'UTR SNP C G uc003uoa.2 Hybrid_Cap... view
PGAP3 p.V188M 17 37829899 37829899 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc002hsj.2 PGAP3_uc010cvy.... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 LOVO_LARGE_INTE... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G 12 18801085 18801085 LOVO_LARGE_INTE... 37 3'UTR Del A - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CB p.E1051K 3 138374293 138374293 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc011bmq.1 PIK3CB_uc011bmn... Hybrid_Cap... view
PIK3R1 5 67584513 67584513 LOVO_LARGE_INTE... 37 Intron Del T - uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap...
PIP4K2B p.T137M 17 36936802 36936802 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002hqs.2 PIP4K2B_uc010wd... Hybrid_Cap... view
PLCB2 p.W293* 15 40590881 40590881 LOVO_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc001zld.2 PLCB2_uc010bbo.... Hybrid_Cap... view
PLCG2 16 81991640 81991640 LOVO_LARGE_INTE... 37 3'UTR SNP C T uc002fgt.2 Hybrid_Cap... view
PLEKHA5 p.K877E 12 19496335 19496335 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A G uc010sie.1 PLEKHA5_uc001re... Hybrid_Cap... view
PLK2 5 57755014 57755016 LOVO_LARGE_INTE... 37 Intron Del AAA - uc003jrn.2 PLK2_uc011cql.1... Hybrid_Cap...
PMS1 2 190670540 190670540 LOVO_LARGE_INTE... 37 Intron Del A - uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PMS1 p.K455fs 2 190719361 190719361 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PMS2 7 6012920 6012920 LOVO_LARGE_INTE... 37 3'UTR Del T - uc003spl.2 PMS2_uc003spj.2... Hybrid_Cap...
PPM1E 17 57060352 57060352 LOVO_LARGE_INTE... 37 3'UTR Del A - uc002iwx.2 PPM1E_uc010ddd.... Hybrid_Cap...
PPP1R3A p.G473* 7 113519730 113519730 LOVO_LARGE_INTE... 37 Nonsense_Mutation SNP C A uc010ljy.1 Hybrid_Cap... view
PRCC p.S209L 1 156756509 156756509 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc001fqa.2 PRCC_uc001fqb.2... Hybrid_Cap... view
PREX2 p.Y176H 8 68939541 68939541 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C uc003xxv.1 PREX2_uc003xxu.... Hybrid_Cap... view
PREX2 p.C938F 8 69020441 69020441 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G T uc003xxv.1 PREX2_uc011lez.... Hybrid_Cap... view
PRKAR1A 17 66526674 66526674 LOVO_LARGE_INTE... 37 3'UTR SNP C T uc002jhg.2 PRKAR1A_uc002jh... Hybrid_Cap... view
PRKCD p.G544D 3 53223150 53223150 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc003dgl.2 PRKCD_uc003dgm.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 p.E226K 10 53564428 53564428 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc001jjo.2 PRKG1_uc001jjm.... Hybrid_Cap... view
PRPF4B p.K44fs 6 4031881 4031881 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003mvv.2 PRPF4B_uc011dhv... Hybrid_Cap...
PTEN 10 89725294 89725294 LOVO_LARGE_INTE... 37 3'UTR Del T - rs1044487 uc001kfb.2 Hybrid_Cap...
PTPRU p.R1124H 1 29641997 29641997 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc001bru.2 PTPRU_uc001brv.... Hybrid_Cap... view
PXDN p.E1364G 2 1642733 1642733 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C uc002qxa.2 Hybrid_Cap... view
PXK p.R459fs 3 58395326 58395326 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del G - uc003djz.1 PXK_uc003djx.1_... Hybrid_Cap...
RAD50 p.L719fs 5 131931452 131931452 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003kxi.2 RAD50_uc003kxh.... Hybrid_Cap...
RAF1 p.G370del 3 12633289 12633291 LOVO_LARGE_INTE... 37 In_Frame_Del Del CTC - uc003bxf.3 RAF1_uc011aut.1... Hybrid_Cap...
RAF1 p.V98A 3 12653476 12653476 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A G uc003bxf.3 RAF1_uc011aut.1... Hybrid_Cap... view
RAPGEF2 4 160189201 160189201 LOVO_LARGE_INTE... 37 5'UTR Del T - uc003iqg.3 Hybrid_Cap...
RAPGEF2 p.E516fs 4 160253744 160253744 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003iqg.3 Hybrid_Cap...
RASGRF1 15 79277150 79277151 LOVO_LARGE_INTE... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RBPJ p.M140V 4 26422230 26422230 LOVO_LARGE_INTE... 37 Missense_Mutation SNP A G uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RECQL4 p.R1162H 8 145737081 145737081 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc003zdj.2 Hybrid_Cap... view
REM1 p.R246H 20 30072073 30072073 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002wwa.2 NCRNA00028_uc01... Hybrid_Cap... view
RGS22 p.K1162fs 8 100990178 100990178 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del T - uc003yjb.1 RGS22_uc003yja.... Hybrid_Cap...
RHPN2 p.R449C 19 33487007 33487007 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002nuf.2 RHPN2_uc010xro.... Hybrid_Cap... view
RIMS2 8 104831719 104831720 LOVO_LARGE_INTE... 37 5'UTR Del AA - uc003ylw.2 RIMS2_uc003ylp.... Hybrid_Cap...
RIMS2 p.V401fs 8 104927779 104927779 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003yls.2 RIMS2_uc003ylp.... Hybrid_Cap...
RIPK1 6 3077012 3077012 LOVO_LARGE_INTE... 37 5'UTR Del G - uc010jni.2 RIPK1_uc003muv.... Hybrid_Cap...
RIPK3 p.P492fs 14 24805463 24805463 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del G - rs3212254 uc001wpb.2 ADCY4_uc001wov.... Hybrid_Cap...
RIPK3 p.V156I 14 24808226 24808226 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc001wpb.2 RIPK3_uc001wpa.... Hybrid_Cap... view
RIPK4 p.A612V 21 43161518 43161518 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002yzn.1 Hybrid_Cap... view
RNASEL p.P688H 1 182544690 182544690 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G T uc001gpj.1 RNASEL_uc009wxz... Hybrid_Cap... view
ROCK2 p.D1110N 2 11337426 11337426 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc002rbd.1 Hybrid_Cap... view
ROCK2 p.W138fs 2 11389836 11389837 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - A uc002rbd.1 Hybrid_Cap...
RPL22 p.K15fs 1 6257785 6257785 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del T - uc001amd.2 RPL22_uc001ame.... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 LOVO_LARGE_INTE... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SCARA5 8 27729443 27729443 LOVO_LARGE_INTE... 37 3'UTR SNP G A uc003xgj.2 SCARA5_uc010luz... Hybrid_Cap... view
SEMA3B p.C380_splice 3 50311793 50311793 LOVO_LARGE_INTE... 37 Splice_Site_SNP SNP G A uc003cyu.2 SEMA3B_uc003cyt... Hybrid_Cap... view
SGK3 p.L248fs 8 67752239 67752239 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del T - uc003xwr.2 SGK3_uc003xwp.2... Hybrid_Cap...
SIK2 p.S179fs 11 111571668 111571668 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del C - uc001plt.2 Hybrid_Cap...
SIK3 p.R773C 11 116730111 116730111 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc001ppy.2 SIK3_uc001ppz.2... Hybrid_Cap... view
SMAD2 p.A292V 18 45374968 45374968 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc002lcy.2 SMAD2_uc002lcz.... Hybrid_Cap... view
SMO p.A324T 7 128846040 128846040 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc003vor.2 SMO_uc003vos.2_... Hybrid_Cap... view
SPEG p.D936N 2 220329255 220329255 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc010fwg.2 SPEG_uc002vlm.2... Hybrid_Cap... view
SPEN p.V2175M 1 16259258 16259258 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
SPEN p.S2493fs 1 16260213 16260214 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - C uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap...
SRPK1 6 35802955 35802955 LOVO_LARGE_INTE... 37 3'UTR Del A - uc003olj.2 SRPK1_uc011dtg.... Hybrid_Cap...
STAR p.G42fs 8 38006212 38006212 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del C - uc003xkv.1 STAR_uc010lwc.1... Hybrid_Cap...
STAT5B p.Q368fs 17 40370235 40370236 LOVO_LARGE_INTE... 37 Frame_Shift_Ins Ins - G uc002hzh.2 STAT5B_uc002hzi... Hybrid_Cap...
STK19 p.S324fs 6 31948489 31948490 LOVO_LARGE_INTE... 37 Frame_Shift_Del Del AG - uc003nyv.2 STK19_uc003nyt.... Hybrid_Cap...
STK31 7 23872024 23872025 LOVO_LARGE_INTE... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK36 p.R50* 2 219538411 219538411 LOVO_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc002viu.2 STK36_uc002viv.... Hybrid_Cap... view
STK36 p.L1114P 2 219563608 219563608 LOVO_LARGE_INTE... 37 Missense_Mutation SNP T C uc002viu.2 STK36_uc002viv.... Hybrid_Cap... view
STK39 p.E378K 2 168931699 168931699 LOVO_LARGE_INTE... 37 Missense_Mutation SNP C T uc002uea.2 Hybrid_Cap... view
STK40 p.T372M 1 36807564 36807564 LOVO_LARGE_INTE... 37 Missense_Mutation SNP G A uc001cal.1 STK40_uc001cak.... Hybrid_Cap... view
TAF1L p.G43C 9 326354