ABL2 27 broad.mit.edu 37 1 179077416 179077416 + Missense SNP G C C NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr1:179077416G>C uc001gmj.3 - c.3273C>G c.(3273-3275)CCG>GCG p.P996A ABL2_uc010pnf.1_Missense_p.P893A|ABL2_uc010png.1_Missense_p.P872A|ABL2_uc010pnh.1_Missense_p.P975A|ABL2_uc001gmg.3_Missense_p.P878A|ABL2_uc001gmi.3_Missense_p.P981A|ABL2_uc001gmh.3_Missense_p.P960A|ABL2_uc010pne.1_Missense_p.P857A NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 996 Pro-rich. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|breast(2)|central_nervous_system(1) 9 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) --- --- --- --- --- ---
ACOX3 8310 broad.mit.edu 37 4 8368114 8368114 + 3'-UTR SNP G C C NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr4:8368114G>C uc010idk.2 - ACOX3_uc003glc.3_3'-UTR|ACOX3_uc003gld.3_3'-UTR NM_003501 NP_003492 acyl-Coenzyme A oxidase 3 isoform a bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 --- --- --- --- --- ---
ANKRA2 57763 broad.mit.edu 37 5 72858792 72858792 + De_novo_Start_OutOfFrame SNP A C C NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr5:72858792A>C uc003kcu.1 - c.561T>G c.(559-563)ATTCC>ATGCC UTP15_uc003kcw.1_5'-Flank|UTP15_uc011cso.1_5'-Flank|UTP15_uc011csp.1_5'-Flank|ANKRA2_uc003kcv.2_De_novo_Start_OutOfFrame NM_023039 NP_075526 ankyrin repeat, family A (RFXANK-like), 2 cytoskeleton|cytosol|membrane low-density lipoprotein binding 0 Lung NSC(167;0.0378)|Ovarian(174;0.0908) --- --- --- --- --- ---
ATM 472 broad.mit.edu 37 11 108196934 108196934 + Synonymous SNP G A A NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr11:108196934G>A uc001pkb.1 + c.7342G>A c.(7340-7342)TTG>TTA p.L2319L ATM_uc009yxr.1_Synonymous_p.L2319L|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Synonymous_p.L971L|ATM_uc001pkg.1_Synonymous_p.L676L NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2319 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(24)|breast(14)|large_intestine(9)|kidney(5)|central_nervous_system(4)|ovary(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 237 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) TSP Lung(14;0.12) --- --- --- --- ---
ATP8B1 5205 broad.mit.edu 37 18 55321215 55321215 + Intron SNP G T T NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr18:55321215G>T uc002lgw.2 - NM_005603 NP_005594 ATPase, class I, type 8B, member 1 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(4)|ovary(2)|central_nervous_system(2) 8 Colorectal(73;0.229) --- --- --- --- --- ---
C6orf115 58527 broad.mit.edu 37 6 139364367 139364367 + 3'-UTR SNP C T T NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr6:139364367C>T uc003qil.2 + C6orf115_uc003qim.2_3'-UTR NM_021243 NP_067066 hypothetical protein LOC58527 0 --- --- --- --- --- ---
CHD8 57680 broad.mit.edu 37 14 21897200 21897200 + Nonsense SNP G A A NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr14:21897200G>A uc001was.1 - c.395C>T c.(395-397)CAG>TAG p.Q101* CHD8_uc001war.1_5'-UTR NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 380 Gln-rich. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|chromatin assembly or disassembly|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription chromatin|MLL1 complex ATP binding|beta-catenin binding|chromatin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding|transcription activator activity|transcription repressor activity ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) --- --- --- --- --- ---
CUBN 8029 broad.mit.edu 37 10 16943363 16943363 + Missense SNP C T T NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr10:16943363C>T uc001ioo.2 - c.8210G>A c.(8210-8212)GAG>AAG p.E2720K CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Missense_p.E76K NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2720 CUB 20. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1) 18 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) --- --- --- --- --- ---
CYTSB 92521 broad.mit.edu 37 17 20160801 20160801 + Missense SNP C G G NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr17:20160801C>G uc002gwq.2 + c.2863C>G c.(2861-2863)GAC>GAG p.D906E CYTSB_uc002gws.2_Missense_p.D906E|CYTSB_uc002gwv.2_Missense_p.D825E|CYTSB_uc010vzf.1_Missense_p.D246E|CYTSB_uc002gww.2_Missense_p.D682E NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 906 nucleus ovary(3) 3 --- --- --- --- --- ---
DIDO1 11083 broad.mit.edu 37 20 61512108 61512108 + Missense SNP C A A NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr20:61512108C>A uc002ydr.1 - c.5464G>T c.(5464-5466)GCC>TCC p.A1734S DIDO1_uc002yds.1_Missense_p.A1734S NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1734 Pro-rich. apoptosis|transcription cytoplasm|nucleus zinc ion binding ovary(3) 3 Breast(26;5.68e-08) --- --- --- Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) --- ---
DISC1 27185 broad.mit.edu 37 1 232174869 232174869 + 3'-UTR SNP C A A NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr1:232174869C>A uc001huz.2 + DISC1_uc001hva.2_3'-UTR NM_018662 NP_061132 disrupted in schizophrenia 1 isoform L microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding 0 all_cancers(173;0.0208)|Prostate(94;0.0975) --- --- --- --- --- ---
DLGAP4 22839 broad.mit.edu 37 20 35060317 35060317 + Missense SNP C T T NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr20:35060317C>T uc002xff.2 + c.632C>T c.(631-633)CCG>CTG p.P66L DLGAP4_uc010zvp.1_Missense_p.P66L NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 66 cell-cell signaling ovary(1)|skin(1) 2 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) --- --- --- --- --- ---
KIAA0802 23255 broad.mit.edu 37 18 8784084 8784084 + Missense SNP G A A NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr18:8784084G>A uc002knr.2 + c.1116G>A c.(1115-1117)AGT>AAT p.S325N KIAA0802_uc002knq.2_Missense_p.S325N|KIAA0802_uc010dkw.1_Missense_p.S163N NM_015210 NP_056025 Q9Y4B5 K0802_HUMAN hypothetical protein LOC23255 676 Potential. ovary(6)|central_nervous_system(1) 7 --- --- --- --- --- ---
LONRF1 91694 broad.mit.edu 37 8 12594256 12594256 + Missense SNP C G G NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr8:12594256C>G uc003wwd.1 - c.1468G>C c.(1468-1470)GAA>CAA p.E469Q LONRF1_uc011kxv.1_Missense_p.E58Q|LONRF1_uc010lsp.1_Missense_p.E69Q NM_152271 NP_689484 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 469 proteolysis ATP-dependent peptidase activity|zinc ion binding ovary(1) 1 --- --- --- --- --- ---
LONRF1 91694 broad.mit.edu 37 8 12594256 12594256 + Missense SNP C G G NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr8:12594256C>G uc003wwd.1 - c.1468G>C c.(1468-1470)GAA>CAA p.E469Q LONRF1_uc011kxv.1_Missense_p.E58Q|LONRF1_uc010lsp.1_Missense_p.E69Q NM_152271 NP_689484 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 469 proteolysis ATP-dependent peptidase activity|zinc ion binding ovary(1) 1 --- --- --- --- --- ---
MLL5 55904 broad.mit.edu 37 7 104753479 104753479 + Missense SNP C A A NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr7:104753479C>A uc003vcm.2 + c.5810C>A c.(5809-5811)CCA>CAA p.P1759Q MLL5_uc010ljc.2_Missense_p.P1759Q|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_p.P493Q NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1759 Pro-rich. cell cycle arrest|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of transcription, DNA-dependent|response to retinoic acid|retinoic acid receptor signaling pathway MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 --- --- --- --- --- ---
OR13A1 79290 broad.mit.edu 37 10 45799763 45799763 + Synonymous SNP C G G NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr10:45799763C>G uc001jcc.1 - c.417G>C c.(415-417)TCG>TCC p.S36S OR13A1_uc001jcd.1_Synonymous_p.S32S NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 36 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 --- --- --- --- --- ---
PTDSS1 9791 broad.mit.edu 37 8 97343267 97343267 + Missense SNP G A A NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr8:97343267G>A uc003yht.1 + c.1358G>A c.(1357-1359)TGT>TAT p.C419Y PTDSS1_uc003yhu.1_Missense_p.C273Y NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 419 phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) --- --- --- --- --- ---
RGL4 266747 broad.mit.edu 37 22 24034579 24034579 + Missense SNP G T T NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr22:24034579G>T uc002zxo.2 + c.1494G>T c.(1492-1494)CAG>CAT p.Q79H LOC91316_uc002zxh.3_Non-coding_Transcript|LOC91316_uc002zxi.3_Non-coding_Transcript|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxn.2_Missense_p.Q79H|RGL4_uc002zxp.1_5'-UTR|RGL4_uc002zxq.2_5'-UTR Q8IZJ4 RGDSR_HUMAN SubName: Full=RGL4 protein; Flags: Fragment; 79 small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity ovary(1) 1 --- --- --- --- --- ---
RRN3 54700 broad.mit.edu 37 16 15178499 15178499 + Missense SNP G A A rs76732059 NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr16:15178499G>A uc002dde.2 - c.664C>T c.(663-665)TCG>TTG p.S199L PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_p.S100L|RRN3_uc010uzq.1_Missense_p.S169L|RRN3_uc002ddf.1_Missense_p.S199L NM_018427 NP_060897 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor 199 regulation of transcription|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm ovary(1) 1 --- --- --- --- --- ---
SLC1A4 6509 broad.mit.edu 37 2 65245211 65245211 + Synonymous SNP G A A rs115498588 by1000genomes NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr2:65245211G>A uc010yqa.1 + c.1363G>A c.(1361-1363)GCG>GCA p.A347A SLC1A4_uc010ypy.1_Synonymous_p.A127A|SLC1A4_uc010ypz.1_Synonymous_p.A49A|SLC1A4_uc010fcv.2_Synonymous_p.A347A|SLC1A4_uc002sdh.2_Synonymous_p.A127A NM_003038 NP_003029 P43007 SATT_HUMAN solute carrier family 1, member 4 isoform 1 347 Helical; (Potential). cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic integral to plasma membrane|intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 L-Alanine(DB00160) --- --- --- --- --- ---
STEAP2 261729 broad.mit.edu 37 7 89865490 89865490 + Intron SNP C T T NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr7:89865490C>T uc003uka.2 + STEAP2_uc003ujz.2_3'-UTR|STEAP2_uc010len.2_3'-UTR|STEAP2_uc003ukb.2_3'-UTR|STEAP2_uc003ukc.2_Intron|STEAP2_uc003ukd.2_Intron NM_001040666 NP_001035756 six transmembrane epithelial antigen of the electron transport chain|endocytosis|Golgi to plasma membrane transport|iron ion transport|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity ovary(2) 2 all_hematologic(106;0.112) --- --- --- --- --- ---
TANC1 85461 broad.mit.edu 37 2 160086335 160086335 + Synonymous SNP C G G NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr2:160086335C>G uc002uag.2 + c.4672C>G c.(4670-4672)CCC>CCG p.P1466P TANC1_uc010zcm.1_3'-UTR|TANC1_uc010fon.2_Synonymous_p.P310P NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 1466 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 --- --- --- --- --- ---
TBK1 29110 broad.mit.edu 37 12 64878119 64878119 + Synonymous SNP C A A NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr12:64878119C>A uc001ssc.1 + c.1091C>A c.(1089-1091)ACC>ACA p.T343T NM_013254 NP_037386 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 343 I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein phosphorylation|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1) 5 --- --- --- --- --- ---
TMEM183A 92703 broad.mit.edu 37 1 202987597 202987597 + Intron SNP A T T NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr1:202987597A>T uc001gyu.1 + TMEM183A_uc001gyv.1_Intron|TMEM183A_uc001gyw.1_Intron|TMEM183A_uc001gyx.1_Intron NM_001079809 NP_001073277 transmembrane protein 183B integral to membrane 0 --- --- --- --- --- ---
TRPV1 7442 broad.mit.edu 37 17 3512278 3512278 + Intron SNP C A A NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr17:3512278C>A uc010vru.1 - SHPK_uc002fvz.1_3'-UTR NM_080704 NP_542435 transient receptor potential cation channel, cell surface receptor linked signaling pathway|chemosensory behavior|thermoception integral to plasma membrane ATP binding|calcium channel activity|calmodulin binding 0 Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) --- --- --- Melanoma(38;962 1762 15789) --- ---
WDR59 79726 broad.mit.edu 37 16 74990380 74990380 + Missense SNP G A A NBL8_common NBL8G_common Phase_I Unspecified Illumina GAIIx g.chr16:74990380G>A uc002fdh.1 - c.335C>T c.(334-336)GCG>GTG p.A78V WDR59_uc002fdi.2_Missense_p.A78V|WDR59_uc002fdj.2_Missense_p.A78V NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN WD repeat domain 59 78 WD 1. ovary(1)|breast(1) 2 --- --- --- --- --- ---