ACCN1 40 broad.mit.edu 37 17 31541508 31541508 + Intron SNP G C C NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr17:31541508G>C uc002hht.2 - ACCN1_uc002hhu.2_Intron NM_183377 NP_899233 amiloride-sensitive cation channel 1, neuronal central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) Amiloride(DB00594) --- --- --- --- --- ---
ADAMTS17 170691 broad.mit.edu 37 15 100591789 100591789 + Nonsense SNP G A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr15:100591789G>A uc002bvv.1 - c.2522C>T c.(2522-2524)CAG>TAG p.Q815* NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 815 TSP type-1 2. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) --- --- --- --- --- ---
AEN 64782 broad.mit.edu 37 15 89173938 89173938 + Intron SNP G A A rs67426590 by1000genomes NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr15:89173938G>A uc010bnm.1 + AEN_uc002bmt.2_3'-UTR NM_022767 NP_073604 interferon stimulated exonuclease gene apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding 0 --- --- --- --- --- ---
AGL 178 broad.mit.edu 37 1 100388427 100388427 + 3'-UTR SNP G A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr1:100388427G>A uc001dsi.1 + AGL_uc001dsj.1_3'-UTR|AGL_uc001dsk.1_3'-UTR|AGL_uc001dsl.1_3'-UTR|AGL_uc001dsm.1_3'-UTR|AGL_uc001dsn.1_3'-UTR NM_000642 NP_000633 amylo-1,6-glucosidase, glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1) 2 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) --- --- --- --- --- ---
ALOX5 240 broad.mit.edu 37 10 45927090 45927090 + Intron SNP G T T NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr10:45927090G>T uc001jce.2 + ALOX5_uc009xmt.2_Intron|ALOX5_uc010qfg.1_Intron NM_000698 NP_000689 arachidonate 5-lipoxygenase hormone biosynthetic process|leukotriene biosynthetic process|oxidation-reduction process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) --- --- --- --- --- ---
C16orf59 80178 broad.mit.edu 37 16 2512523 2512523 + Synonymous SNP G A A rs3810794 byFrequency;by1000genomes NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr16:2512523G>A uc002cqh.2 + c.889G>A c.(887-889)TCG>TCA p.S286S C16orf59_uc002cqf.1_Synonymous_p.S286S|C16orf59_uc002cqg.1_Synonymous_p.S119S|C16orf59_uc002cqi.2_Synonymous_p.S119S|C16orf59_uc010uwb.1_Synonymous_p.S119S NM_025108 NP_079384 Q7L2K0 CP059_HUMAN hypothetical protein LOC80178 286 0 Ovarian(90;0.17) --- --- --- --- --- ---
C1orf51 148523 broad.mit.edu 37 1 150255998 150255998 + Missense SNP C A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr1:150255998C>A uc001euh.2 + c.457C>A c.(455-457)AAC>AAA p.N107K C1orf51_uc001eui.2_Missense_p.N19K|C1orf51_uc001euj.2_Missense_p.N107K NM_144697 NP_653298 Q8N365 CA051_HUMAN hypothetical protein LOC148523 107 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) --- --- --- --- --- ---
C2orf27A 29798 broad.mit.edu 37 2 132509121 132509121 + 5'-UTR SNP C T T NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr2:132509121C>T uc002ttf.1 + NM_013310 NP_037442 hypothetical protein LOC29798 0 --- --- --- --- --- ---
CDH4 1002 broad.mit.edu 37 20 60011541 60011541 + Intron SNP G T T NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr20:60011541G>T uc002ybn.1 + NM_001794 NP_001785 cadherin 4, type 1 preproprotein adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2) 5 --- --- --- --- --- ---
CDKN1A 1026 broad.mit.edu 37 6 36654782 36654782 + 3'-UTR SNP G A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr6:36654782G>A uc011dtq.1 + CDKN1A_uc003omm.3_3'-UTR|CDKN1A_uc003omn.2_3'-UTR NM_078467 NP_510867 cyclin-dependent kinase inhibitor 1A cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of oxygen and reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1) 1 --- --- --- --- --- ---
CEP350 9857 broad.mit.edu 37 1 180055420 180055420 + Intron SNP C A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr1:180055420C>A uc001gnt.2 + CEP350_uc009wxl.2_Intron|CEP350_uc001gnv.2_Intron|CEP350_uc001gnw.1_Intron NM_014810 NP_055625 centrosome-associated protein 350 centrosome|nucleus|spindle 0 --- --- --- --- --- ---
CLASP1 23332 broad.mit.edu 37 2 122095530 122095530 + 3'-UTR SNP C A A rs78007963 NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr2:122095530C>A uc002tnc.2 - CLASP1_uc010yyv.1_3'-UTR|CLASP1_uc002tmz.2_3'-UTR|CLASP1_uc002tna.2_3'-UTR|CLASP1_uc010yyw.1_Non-coding_Transcript|CLASP1_uc002tnb.2_Non-coding_Transcript|CLASP1_uc010yyx.1_Non-coding_Transcript|CLASP1_uc010yyy.1_Non-coding_Transcript|CLASP1_uc010yyz.1_3'-UTR|CLASP1_uc010yza.1_3'-UTR|CLASP1_uc010yzb.1_Non-coding_Transcript|CLASP1_uc010yzc.1_Non-coding_Transcript|CLASP1_uc002tmy.2_3'-UTR NM_015282 NP_056097 CLIP-associating protein 1 isoform 1 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding central_nervous_system(1) 1 Renal(3;0.0496) --- --- --- --- --- ---
COL5A1 1289 broad.mit.edu 37 9 137583441 137583441 + Intron SNP A G G NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr9:137583441A>G uc004cfe.2 + NM_000093 NP_000084 alpha 1 type V collagen preproprotein axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)|skin(1) 8 Myeloproliferative disorder(178;0.0341) --- --- --- --- --- ---
COMMD8 54951 broad.mit.edu 37 4 47455112 47455112 + Synonymous SNP C A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr4:47455112C>A uc003gxi.2 - c.503G>T c.(501-503)CTG>CTT p.L165L NM_017845 NP_060315 Q9NX08 COMD8_HUMAN COMM domain containing 8 165 COMM. protein binding 0 --- --- --- --- --- ---
CREBBP 1387 broad.mit.edu 37 16 3790439 3790439 + Nonsense SNP G T T NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr16:3790439G>T uc002cvv.2 - c.4298C>A c.(4297-4299)TCA>TAA p.S1365* CREBBP_uc002cvw.2_Nonsense_p.S1327* NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1365 Cys/His-rich. cellular lipid metabolic process|histone acetylation|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding ovary(6)|skin(2)|pancreas(1)|lung(1) 10 Ovarian(90;0.0266) --- --- --- --- --- ---
CUX1 1523 broad.mit.edu 37 7 101694277 101694277 + Intron SNP G A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr7:101694277G>A uc003uys.3 + CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron|CUX1_uc003uyx.3_Intron NM_181552 NP_853530 cut-like homeobox 1 isoform a negative regulation of transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|central_nervous_system(1)|pancreas(1) 7 --- --- --- --- --- ---
CYTSB 92521 broad.mit.edu 37 17 20098702 20098702 + Intron SNP C A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr17:20098702C>A uc002gwq.2 + CYTSB_uc010cqx.2_Intron|CYTSB_uc002gwr.2_Intron|CYTSB_uc002gws.2_Intron|CYTSB_uc002gwv.2_Intron|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gwt.2_Intron|CYTSB_uc002gwu.2_Intron NM_001033553 NP_001028725 spectrin domain with coiled-coils 1 NSP5b3b nucleus ovary(3) 3 --- --- --- --- --- ---
CYTSB 92521 broad.mit.edu 37 17 20217518 20217518 + 3'-UTR SNP C A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr17:20217518C>A uc002gwq.2 + CYTSB_uc002gws.2_3'-UTR|CYTSB_uc002gwv.2_3'-UTR|CYTSB_uc010vzf.1_3'-UTR|CYTSB_uc002gww.2_3'-UTR NM_001033553 NP_001028725 spectrin domain with coiled-coils 1 NSP5b3b nucleus ovary(3) 3 --- --- --- --- --- ---
DPYD 1806 broad.mit.edu 37 1 97658701 97658701 + Missense SNP C A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr1:97658701C>A uc001drv.2 - c.2683G>T c.(2682-2684)TGG>TTG p.W849L NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 849 'de novo' pyrimidine base biosynthetic process|oxidation-reduction process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP or NADPH binding|protein homodimerization activity ovary(3)|breast(2) 5 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Capecitabine(DB01101)|Enfuvirtide(DB00109) --- --- --- --- --- ---
EIF2B5 8893 broad.mit.edu 37 3 183855824 183855824 + Missense SNP T G G NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr3:183855824T>G uc003fmp.2 + c.1009T>G c.(1007-1009)TTT>TTG p.F215L EIF2B5_uc003fmq.2_5'-UTR NM_003907 NP_003898 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, 215 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding ovary(5) 5 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) --- --- --- --- --- ---
FAM20C 56975 broad.mit.edu 37 7 197913 197913 + Intron SNP C A A rs12540534 byFrequency;by1000genomes NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr7:197913C>A uc003sip.2 + NM_020223 NP_064608 family with sequence similarity 20, member C extracellular region 0 Ovarian(82;0.0112) --- --- --- --- --- ---
FDFT1 2222 broad.mit.edu 37 8 11691365 11691365 + Intron SNP C G G NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr8:11691365C>G uc003wuk.2 + FDFT1_uc003wuh.2_Intron|FDFT1_uc003wui.2_Intron|FDFT1_uc011kxe.1_Intron|FDFT1_uc011kxf.1_Intron|FDFT1_uc011kxg.1_Intron|FDFT1_uc003wuj.2_Intron|FDFT1_uc010lsb.2_Intron|FDFT1_uc011kxh.1_Intron|FDFT1_uc011kxi.1_Intron|FDFT1_uc011kxj.1_Intron|FDFT1_uc011kxk.1_Intron NM_004462 NP_004453 squalene synthase cholesterol biosynthetic process|isoprenoid biosynthetic process|oxidation-reduction process endoplasmic reticulum membrane|integral to membrane farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding 0 all_epithelial(15;0.234) --- --- --- --- --- ---
GABRA2 2555 broad.mit.edu 37 4 46317291 46317291 + Intron SNP C T T NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr4:46317291C>T uc011bzc.1 - GABRA2_uc003gxc.3_Intron|GABRA2_uc010igc.2_Intron|GABRA2_uc003gxe.2_Intron SubName: Full=cDNA FLJ54650, highly similar to Gamma-aminobutyric-acid receptor alpha-1 subunit; gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) --- --- --- --- --- ---
HERC2 8924 broad.mit.edu 37 15 28471707 28471707 + Intron SNP T G G NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr15:28471707T>G uc001zbj.2 - NM_004667 NP_004658 hect domain and RLD 2 DNA repair|intracellular protein transport|regulation of mitotic metaphase/anaphase transition anaphase-promoting complex guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(2)|central_nervous_system(1) 11 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) --- --- --- --- --- ---
INPP5E 56623 broad.mit.edu 37 9 139323799 139323799 + 3'-UTR SNP A G G rs35763810 byFrequency;by1000genomes NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr9:139323799A>G uc004cho.2 - INPP5E_uc010nbm.2_3'-UTR NM_019892 NP_063945 inositol polyphosphate-5-phosphatase E cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity skin(1) 1 Myeloproliferative disorder(178;0.0511) --- --- --- --- --- ---
ITPK1 3705 broad.mit.edu 37 14 93407248 93407248 + Intron SNP A G G rs11446 byFrequency;by1000genomes NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr14:93407248A>G uc001ybe.2 - ITPK1_uc001ybf.2_3'-UTR|ITPK1_uc001ybg.2_3'-UTR|ITPK1_uc001ybh.2_3'-UTR NM_001142594 NP_001136066 inositol 1,3,4-triphosphate 5/6 kinase isoform blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|magnesium ion binding 0 all_cancers(154;0.077)|all_epithelial(191;0.247) --- --- --- --- --- ---
KDM2A 22992 broad.mit.edu 37 11 66915681 66915681 + Intron SNP C T T NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr11:66915681C>T uc001ojw.2 + KDM2A_uc001ojx.2_Intron NM_012308 NP_036440 F-box and leucine-rich repeat protein 11 oxidation-reduction process|regulation of transcription|transcription nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding ovary(3)|skin(1) 4 --- --- --- --- --- ---
MAGOHB 55110 broad.mit.edu 37 12 10760642 10760642 + Intron SNP T G G rs73257985 by1000genomes NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr12:10760642T>G uc001qyq.1 - MAGOHB_uc001qyr.1_Intron NM_018048 NP_060518 mago-nashi homolog B mRNA processing|mRNA transport|RNA splicing nucleus RNA binding breast(1) 1 --- --- --- --- --- ---
MYO19 80179 broad.mit.edu 37 17 34859523 34859523 + Intron SNP C T T NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr17:34859523C>T uc010wcy.1 - MYO19_uc002hmw.2_Intron|MYO19_uc010cuu.2_Intron NM_001163735 NP_001157207 myosin XIX isoform 2 mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity 0 Breast(25;0.00957)|Ovarian(249;0.17) --- --- --- --- --- ---
PAN3 255967 broad.mit.edu 37 13 28844884 28844884 + Synonymous SNP A T T NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr13:28844884A>T uc001urz.2 + c.1409A>T c.(1407-1409)CCA>CCT p.P467P PAN3_uc010tdo.1_Synonymous_p.P613P|PAN3_uc001ury.2_Synonymous_p.P301P|PAN3_uc001urx.2_Synonymous_p.P413P NM_175854 NP_787050 Q58A45 PAN3_HUMAN PABP1-dependent poly A-specific ribonuclease 467 Protein kinase.|Interaction with PAN2. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|protein phosphorylation centrosome|cytosol ATP binding|protein kinase activity ovary(1) 1 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) --- --- --- --- --- ---
PC 5091 broad.mit.edu 37 11 66616075 66616075 + 3'-UTR SNP G A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr11:66616075G>A uc001ojo.1 - PC_uc001ojp.1_3'-UTR|PC_uc001ojm.1_3'-UTR|PC_uc001ojn.1_3'-UTR NM_001040716 NP_001035806 pyruvate carboxylase precursor gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Biotin(DB00121)|Pyruvic acid(DB00119) --- --- --- --- --- ---
PITPNB 23760 broad.mit.edu 37 22 28262247 28262247 + Intron SNP A G G NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr22:28262247A>G uc011akh.1 - PITPNB_uc003adk.2_Intron|PITPNB_uc003adl.2_Intron NM_012399 NP_036531 phosphatidylinositol transfer protein, beta lipid metabolic process|transport Golgi apparatus lipid binding skin(1) 1 --- --- --- --- --- ---
PLXDC1 57125 broad.mit.edu 37 17 37263869 37263869 + Intron SNP G C C NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr17:37263869G>C uc002hrg.2 - PLXDC1_uc002hrh.2_Intron|PLXDC1_uc002hri.2_Intron|PLXDC1_uc002hrj.1_Intron|PLXDC1_uc002hrk.1_Intron NM_020405 NP_065138 plexin domain containing 1 precursor angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction ovary(1)|kidney(1) 2 --- --- --- --- --- ---
POLR2J 5439 broad.mit.edu 37 7 102120552 102120552 + 5'-Flank SNP G A A rs111728782 NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr7:102120552G>A uc003uzp.1 - NM_006234 NP_006225 DNA directed RNA polymerase II polypeptide J mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity 0 --- --- --- --- --- ---
PTBP2 58155 broad.mit.edu 37 1 97203877 97203877 + Intron SNP C A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr1:97203877C>A uc010otz.1 + PTBP2_uc001drn.2_Intron|PTBP2_uc001dro.2_Intron|PTBP2_uc001drp.2_Intron|PTBP2_uc009wdw.2_Intron|PTBP2_uc001drq.2_Intron|PTBP2_uc001drr.2_Intron|PTBP2_uc010oua.1_Intron|PTBP2_uc001dru.2_Intron|PTBP2_uc001drm.2_Intron NM_021190 NP_067013 polypyrimidine tract binding protein 2 mRNA processing|RNA splicing nucleus nucleotide binding|RNA binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) --- --- --- --- --- ---
RFWD2 64326 broad.mit.edu 37 1 176095985 176095985 + Intron SNP G T T NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr1:176095985G>T uc001gku.1 - RFWD2_uc001gkv.1_Intron|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_Intron|RFWD2_uc001gkt.1_Intron NM_022457 NP_071902 ring finger and WD repeat domain 2 isoform a DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 --- --- --- Ovarian(134;1413 1765 5706 35534 51541) --- ---
RNF185 91445 broad.mit.edu 37 22 31602247 31602247 + 3'-UTR SNP A G G NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr22:31602247A>G uc003akb.2 + RNF185_uc010gwh.2_Non-coding_Transcript|RNF185_uc011alm.1_3'-UTR|RNF185_uc003akc.2_3'-UTR|RNF185_uc003ake.2_3'-UTR NM_152267 NP_689480 ring finger protein 185 isoform 1 integral to membrane zinc ion binding 0 --- --- --- --- --- ---
SDCCAG1 9147 broad.mit.edu 37 14 50281557 50281557 + Missense SNP C A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr14:50281557C>A uc010anj.1 - c.1664G>T c.(1662-1664)TGG>TGT p.W532C SDCCAG1_uc001wxc.2_Missense_p.W532C|SDCCAG1_uc010tqi.1_Missense_p.W532C|SDCCAG1_uc001wxe.2_Missense_p.W490C|SDCCAG1_uc001wxd.1_5'-UTR NM_004713 NP_004704 B3KSK1 B3KSK1_HUMAN serologically defined colon cancer antigen 1 Error:Variant_position_missing_in_B3KSK1_after_alignment 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) --- --- --- --- --- ---
SMG7 9887 broad.mit.edu 37 1 183522174 183522174 + Missense SNP C A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr1:183522174C>A uc001gqf.2 + c.3497C>A c.(3495-3497)AGC>AGA p.S1125R SMG7_uc001gqh.2_3'-UTR|SMG7_uc001gqg.2_3'-UTR|SMG7_uc001gqi.2_3'-UTR|SMG7_uc010poc.1_3'-UTR NM_201568 NP_963862 Q92540 SMG7_HUMAN SMG-7 homolog isoform 2 Error:Variant_position_missing_in_Q92540_after_alignment mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding central_nervous_system(1) 1 --- --- --- --- --- ---
STAT5B 6777 broad.mit.edu 37 17 40352471 40352471 + 3'-UTR SNP C T T NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr17:40352471C>T uc002hzh.2 - NM_012448 NP_036580 signal transducer and activator of transcription 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2) 5 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) Dasatinib(DB01254) --- --- --- --- --- ---
STT3A 3703 broad.mit.edu 37 11 125484088 125484088 + Missense SNP G A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr11:125484088G>A uc001qcd.2 + c.1771G>A c.(1770-1772)CGA>CAA p.R554Q STT3A_uc001qce.2_Missense_p.R554Q|STT3A_uc010sbg.1_Missense_p.R462Q|STT3A_uc009zbn.2_Missense_p.R276Q NM_152713 NP_689926 P46977 STT3A_HUMAN integral membrane protein 1 554 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity 0 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) --- --- --- --- --- ---
TAS2R10 50839 broad.mit.edu 37 12 10978108 10978108 + Missense SNP T G G NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr12:10978108T>G uc001qyy.1 - c.761A>C c.(760-762)GAA>GCA p.E254A NM_023921 NP_076410 Q9NYW0 T2R10_HUMAN taste receptor, type 2, member 10 254 Extracellular (Potential). sensory perception of taste integral to membrane taste receptor activity 0 --- --- --- --- --- ---
TBRG1 84897 broad.mit.edu 37 11 124494508 124494508 + Intron SNP G A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr11:124494508G>A uc001qak.3 + TBRG1_uc001qaj.3_Intron|TBRG1_uc001qal.3_Intron|TBRG1_uc001qam.3_Intron|TBRG1_uc009zbf.2_Intron|TBRG1_uc009zbg.2_Intron|TBRG1_uc009zbh.2_5'-Flank NM_032811 NP_116200 transforming growth factor beta regulator 1 cell cycle arrest|DNA replication|negative regulation of cell proliferation|nucleolus to nucleoplasm transport|protein stabilization nucleus DNA binding|protein binding 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) --- --- --- --- --- ---
THBS3 7059 broad.mit.edu 37 1 155171050 155171050 + Intron SNP C G G NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr1:155171050C>G uc001fix.2 - RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Intron|THBS3_uc001fiz.2_Intron|THBS3_uc001fiy.2_Intron|THBS3_uc010pfu.1_Intron|THBS3_uc010pfv.1_Intron|THBS3_uc001fja.2_Intron NM_007112 NP_009043 thrombospondin 3 precursor cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(3)|ovary(2) 5 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) --- --- --- --- --- ---
TRIM5 85363 broad.mit.edu 37 11 5706127 5706127 + De_novo_Start_OutOfFrame SNP T A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr11:5706127T>A uc001mbm.1 - c.167A>T c.(165-169)GAAGT>GATGT TRIM5_uc001mbq.1_Intron|TRIM5_uc001mbn.2_Intron|TRIM5_uc001mbo.2_De_novo_Start_OutOfFrame|TRIM5_uc001mbp.2_De_novo_Start_OutOfFrame NM_033034 NP_149023 tripartite motif protein TRIM5 isoform alpha interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) --- --- --- --- OREG0020712(1) type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)(1)
TTLL4 9654 broad.mit.edu 37 2 219617681 219617681 + Missense SNP G A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr2:219617681G>A uc002viy.2 + c.3542G>A c.(3542-3544)GGC>AGC p.G1058S TTLL4_uc010zkl.1_Missense_p.G893S|TTLL4_uc010fvx.2_Missense_p.G994S|TTLL4_uc010zkm.1_Missense_p.G261S NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1058 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2) 2 Renal(207;0.0915) --- --- --- GBM(172;1818 2053 15407 20943 49753) --- ---
ZC3HC1 51530 broad.mit.edu 37 7 129664261 129664261 + Nonsense SNP C A A NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr7:129664261C>A uc003vpi.2 - c.889G>T c.(889-891)GAA>TAA p.E288* ZC3HC1_uc003vph.2_Intron|ZC3HC1_uc010lma.2_Nonsense_p.E175* NM_016478 NP_057562 Q86WB0 NIPA_HUMAN zinc finger, C3HC type 1 288 cell division|mitosis nucleus protein kinase binding|zinc ion binding 0 Melanoma(18;0.0435) --- --- --- Melanoma(115;540 1606 16325 28853 48167) --- ---
ZDHHC11 79844 broad.mit.edu 37 5 837556 837556 + Missense SNP T G G rs28449575 NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr5:837556T>G uc011cma.1 - c.1208A>C c.(1207-1209)AAC>ACC p.N275T ZDHHC11_uc003jbj.2_Non-coding_Transcript|ZDHHC11_uc010itd.1_Non-coding_Transcript NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 275 integral to membrane acyltransferase activity|zinc ion binding 0 --- --- --- --- --- ---
ZNF208 7757 broad.mit.edu 37 19 22158037 22158037 + Intron SNP C G G NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr19:22158037C>G uc002nqp.2 - ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'-Flank NM_007153 NP_009084 zinc finger protein 208 0 all_lung(12;0.0961)|Lung NSC(12;0.103) --- --- --- --- --- ---
ZNF208 7757 broad.mit.edu 37 19 22159053 22159053 + Intron SNP C T T NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr19:22159053C>T uc002nqp.2 - ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'-Flank NM_007153 NP_009084 zinc finger protein 208 0 all_lung(12;0.0961)|Lung NSC(12;0.103) --- --- --- --- --- ---
ZNF98 148198 broad.mit.edu 37 19 22574357 22574357 + Missense SNP C G G NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr19:22574357C>G uc002nqt.2 - c.1802G>C c.(1800-1802)AAG>AAC p.K560N NM_001098626 NP_001092096 zinc finger protein 98 0 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) --- --- --- --- --- ---
ZNF98 148198 broad.mit.edu 37 19 22575373 22575373 + Missense SNP C T T NBL5 NBL5G Phase_I Unspecified Illumina GAIIx g.chr19:22575373C>T uc002nqt.2 - c.786G>A c.(786-788)GCC>ACC p.A222T NM_001098626 NP_001092096 zinc finger protein 98 0 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) --- --- --- --- --- ---