ADC 113451 broad.mit.edu 37 1 33568551 33568551 + Intron SNP G A A NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr1:33568551G>A uc009vug.2 + ADC_uc001bwr.2_Intron|ADC_uc001bws.2_Intron|ADC_uc009vue.2_Intron|ADC_uc001bwt.1_Intron|ADC_uc001bwu.2_Intron|ADC_uc001bwv.2_Intron|ADC_uc001bww.2_Intron|ADC_uc001bwx.1_Intron NM_052998 NP_443724 ODC antizyme inhibitor-2 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) --- --- --- --- --- ---
ANO4 121601 broad.mit.edu 37 12 101216529 101216529 + Intron SNP G A A NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr12:101216529G>A uc010svm.1 + ANO4_uc010svl.1_Intron|ANO4_uc001thw.2_Intron NM_178826 NP_849148 anoctamin 4 chloride channel complex chloride channel activity ovary(4) 4 --- --- --- --- --- ---
ARMCX5 64860 broad.mit.edu 37 X 101857001 101857001 + 5'-UTR SNP G T T NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chrX:101857001G>T uc004ejg.2 + ARMCX5_uc004ejh.2_5'-UTR NM_022838 NP_073749 armadillo repeat containing, X-linked 5 binding ovary(1) 1 --- --- --- --- --- ---
C15orf39 56905 broad.mit.edu 37 15 75503227 75503227 + Missense SNP G A A NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr15:75503227G>A uc002azp.3 + c.3234G>A c.(3234-3236)GGC>AGC p.G972S C15orf39_uc002azq.3_Missense_p.G972S|C15orf39_uc002azr.3_3'-UTR NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 972 0 --- --- --- --- --- ---
C2orf69 205327 broad.mit.edu 37 2 200792720 200792720 + 3'-UTR SNP C G G NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr2:200792720C>G uc010zhb.1 + NM_153689 NP_710156 hypothetical protein LOC205327 precursor extracellular region central_nervous_system(1) 1 --- --- --- --- --- ---
C5orf42 65250 broad.mit.edu 37 5 37137324 37137324 + Intron SNP C T T NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr5:37137324C>T uc011cpa.1 - C5orf42_uc003jkp.1_Intron|C5orf42_uc011coy.1_Intron|C5orf42_uc003jks.2_Intron|C5orf42_uc011coz.1_Intron NM_023073 NP_075561 hypothetical protein LOC65250 ovary(4)|breast(2) 6 all_lung(31;0.000616) --- --- --- --- --- ---
CDH13 1012 broad.mit.edu 37 16 83681041 83681041 + Intron SNP C T T NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr16:83681041C>T uc010vns.1 + CDH13_uc002fgx.2_Intron|CDH13_uc010vnt.1_Intron|CDH13_uc010vnu.1_Intron RecName: Full=Cadherin-13; AltName: Full=Truncated cadherin; Short=T-cadherin; Short=T-cad; AltName: Full=Heart cadherin; Short=H-cadherin; AltName: Full=P105; Flags: Precursor; adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) --- --- --- --- --- ---
CLPTM1L 81037 broad.mit.edu 37 5 1320847 1320847 + Splice_Site_SNP SNP C A A NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr5:1320847C>A uc003jch.2 - c.e16_splice_site CLPTM1L_uc003jcg.2_Splice_Site_SNP NM_030782 NP_110409 CLPTM1-like apoptosis integral to membrane breast(1)|central_nervous_system(1) 2 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) --- --- --- --- --- ---
CMBL 134147 broad.mit.edu 37 5 10278883 10278883 + 3'-UTR SNP G T T NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr5:10278883G>T uc003jes.2 - NM_138809 NP_620164 carboxymethylenebutenolidase cytosol hydrolase activity|protein binding 0 --- --- --- --- --- ---
CROCC 9696 broad.mit.edu 37 1 17271989 17271989 + Missense SNP G A A NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr1:17271989G>A uc001azt.2 + c.2093G>A c.(2092-2094)CGC>CAC p.R675H CROCC_uc009voz.1_Missense_p.R438H|CROCC_uc001azu.2_5'-UTR NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 675 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2) 4 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) --- --- --- --- --- ---
CSMD2 114784 broad.mit.edu 37 1 34023377 34023377 + Synonymous SNP G A A NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr1:34023377G>A uc001bxm.1 - c.8877C>T c.(8875-8877)TGC>TGT p.C2900C CSMD2_uc001bxn.1_Intron NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2875 Extracellular (Potential).|Sushi 20. integral to membrane|plasma membrane protein binding ovary(5)|pancreas(1) 6 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) --- --- --- --- --- ---
ERI2 112479 broad.mit.edu 37 16 20893695 20893695 + Intron SNP T G G NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr16:20893695T>G uc002dht.3 - DCUN1D3_uc002dhz.2_Intron NM_001142725 NP_001136197 exoribonuclease 2 isoform 1 intracellular exonuclease activity|nucleic acid binding|zinc ion binding large_intestine(1) 1 --- --- --- --- --- ---
FANCD2 2177 broad.mit.edu 37 3 10114944 10114944 + Missense SNP A C C rs56041034 NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr3:10114944A>C uc003buw.2 + c.2691A>C c.(2689-2691)AAA>AAC p.K871N FANCD2_uc003bux.1_Missense_p.K871N|FANCD2_uc003buy.1_Missense_p.K871N|FANCD2_uc010hcw.1_Non-coding_Transcript NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 871 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 --- --- --- --- --- ---
GPD1L 23171 broad.mit.edu 37 3 32159202 32159202 + Intron SNP T G G NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr3:32159202T>G uc003cew.2 + NM_015141 NP_055956 glycerol-3-phosphate dehydrogenase 1-like glycerol-3-phosphate catabolic process|oxidation-reduction process glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|NAD or NADH binding|protein homodimerization activity 0 --- --- --- --- --- ---
GPD1L 23171 broad.mit.edu 37 3 32209194 32209194 + 3'-UTR SNP T G G NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr3:32209194T>G uc003cew.2 + NM_015141 NP_055956 glycerol-3-phosphate dehydrogenase 1-like glycerol-3-phosphate catabolic process|oxidation-reduction process glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|NAD or NADH binding|protein homodimerization activity 0 --- --- --- --- --- ---
HERC2 8924 broad.mit.edu 37 15 28472295 28472295 + Intron SNP G A A NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr15:28472295G>A 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) --- --- --- --- --- ---
HLA-C 3107 broad.mit.edu 37 6 31238259 31238259 + Missense SNP G T T rs1131096 NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr6:31238259G>T uc010jsl.2 - c.630C>A c.(629-631)CCC>CAC p.P208H HLA-C_uc011dnj.1_Missense_p.P180H|HLA-C_uc003nsx.2_Missense_p.P87H|HLA-C_uc003nsy.2_Missense_p.P208H|HLA-C_uc003nsz.2_Missense_p.P208H|HLA-C_uc003nta.2_Missense_p.P208H|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Missense_p.P87H P30508 1C12_HUMAN SubName: Full=MHC class I HLA-C allele; Flags: Precursor; Fragment; 208 Extracellular (Potential).|Alpha-3. H -> P. antigen processing and presentation of peptide antigen via MHC class I|immune response|interspecies interaction between organisms integral to plasma membrane|MHC class I protein complex MHC class I receptor activity 0 --- --- --- --- --- ---
IFT52 51098 broad.mit.edu 37 20 42250896 42250896 + Intron SNP C A A NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr20:42250896C>A uc002xkw.2 + IFT52_uc002xky.2_Intron|IFT52_uc002xkx.2_Intron|IFT52_uc010ggn.2_Intron|IFT52_uc002xkz.2_Intron NM_016004 NP_057088 intraflagellar transport 52 homolog ovary(2) 2 Myeloproliferative disorder(115;0.00452) --- --- --- --- --- ---
KIAA0802 23255 broad.mit.edu 37 18 8805192 8805192 + Intron SNP A G G NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr18:8805192A>G uc002knr.2 + KIAA0802_uc002knq.2_Intron|KIAA0802_uc002kns.2_Intron NM_015210 NP_056025 hypothetical protein LOC23255 ovary(6)|central_nervous_system(1) 7 --- --- --- --- --- ---
KIAA0802 23255 broad.mit.edu 37 18 8825192 8825192 + Synonymous SNP A G G rs581894 byFrequency;by1000genomes NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr18:8825192A>G uc002knr.2 + c.3826A>G c.(3824-3826)GGA>GGG p.G1228G KIAA0802_uc002knq.2_Synonymous_p.G1187G|KIAA0802_uc002kns.2_Synonymous_p.G568G NM_015210 NP_056025 Q9Y4B5 K0802_HUMAN hypothetical protein LOC23255 1538 ovary(6)|central_nervous_system(1) 7 --- --- --- --- --- ---
LRRC55 219527 broad.mit.edu 37 11 56949909 56949909 + Missense SNP G A A NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr11:56949909G>A uc001njl.1 + c.689G>A c.(688-690)GGG>GAG p.G181E NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 151 LRR 5. integral to membrane 0 --- --- --- --- --- ---
MARCH6 10299 broad.mit.edu 37 5 10384883 10384883 + Intron SNP G T T NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr5:10384883G>T uc003jet.1 + MARCH6_uc011cmu.1_Intron|MARCH6_uc003jeu.1_Intron|MARCH6_uc011cmv.1_Intron NM_005885 NP_005876 membrane-associated ring finger (C3HC4) 6 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding 0 --- --- --- --- --- ---
MGRN1 23295 broad.mit.edu 37 16 4682372 4682372 + Intron SNP C A A NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr16:4682372C>A uc002cxb.2 + MGRN1_uc002cxa.2_Intron|MGRN1_uc002cwz.2_Intron|MGRN1_uc010btx.2_Intron|MGRN1_uc010btw.2_Intron|MGRN1_uc010uxo.1_Intron|MGRN1_uc010uxp.1_Intron|MGRN1_uc010uxq.1_Intron NM_015246 NP_056061 mahogunin, ring finger 1 isoform 1 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 --- --- --- --- --- ---
MKL1 57591 broad.mit.edu 37 22 40941442 40941442 + Intron SNP G T T NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr22:40941442G>T uc003ayw.1 - MKL1_uc010gye.1_Intron|MKL1_uc010gyf.1_Intron|MKL1_uc003ayy.1_Intron NM_020831 NP_065882 megakaryoblastic leukemia 1 protein cytoplasm|nucleus actin monomer binding|nucleic acid binding|transcription coactivator activity ovary(2)|central_nervous_system(1) 3 --- --- --- --- --- ---
MTHFSD 64779 broad.mit.edu 37 16 86566039 86566039 + Missense SNP C T T rs3751801 by1000genomes NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr16:86566039C>T uc002fjn.2 - c.781G>A c.(781-783)GCC>ACC p.A244T MTHFSD_uc010voo.1_Missense_p.A224T|MTHFSD_uc002fjo.2_Missense_p.A81T|MTHFSD_uc002fjm.2_Missense_p.A243T|MTHFSD_uc010vop.1_Missense_p.A81T|MTHFSD_uc010voq.1_Missense_p.A243T|MTHFSD_uc010vor.1_Missense_p.A244T NM_001159377 NP_001152849 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain 244 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding 0 --- --- --- --- --- ---
MYO5C 55930 broad.mit.edu 37 15 52553148 52553148 + Synonymous SNP G A A NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr15:52553148G>A uc010bff.2 - c.1361C>T c.(1359-1361)CAC>CAT p.H408H MYO5C_uc010uga.1_Non-coding_Transcript|MYO5C_uc010ugb.1_Non-coding_Transcript|MYO5C_uc010ugc.1_3'-UTR NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 408 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(1) 13 --- --- --- --- --- ---
NES 10763 broad.mit.edu 37 1 156639753 156639753 + Synonymous SNP G A A rs11582300 byFrequency;by1000genomes NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr1:156639753G>A uc001fpq.2 - c.4360C>T c.(4358-4360)TCC>TCT p.S1409S NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1409 Tail. brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) --- --- --- --- --- ---
NIPBL 25836 broad.mit.edu 37 5 37065810 37065810 + 3'-UTR SNP C T T NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr5:37065810C>T uc003jkl.3 + NIPBL_uc003jkk.3_3'-UTR|NIPBL_uc003jkn.2_3'-UTR NM_133433 NP_597677 delangin isoform A brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of gene-specific transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding|transcription repressor activity ovary(3)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 8 all_lung(31;0.000447)|Hepatocellular(1;0.108) --- --- --- --- --- ---
NLRC3 197358 broad.mit.edu 37 16 3591754 3591754 + 3'-UTR SNP C G G rs76430099 byFrequency;by1000genomes NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr16:3591754C>G uc010btn.2 - NM_178844 NP_849172 NOD3 protein I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 --- --- --- --- --- ---
NT5DC3 51559 broad.mit.edu 37 12 104168269 104168269 + Intron SNP G A A rs4964298 byFrequency NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr12:104168269G>A uc010swd.1 - NT5DC3_uc010swe.1_3'-UTR Homo sapiens mRNA for TU12B1-TY, complete cds. hydrolase activity|metal ion binding ovary(2)|skin(1) 3 --- --- --- --- --- ---
NXF1 10482 broad.mit.edu 37 11 62566239 62566239 + Intron SNP G A A NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr11:62566239G>A uc009yog.1 - NXF1_uc001nvf.1_Intron|NXF1_uc001nvg.1_3'-UTR|NXF1_uc010rmh.1_3'-UTR NM_006362 NP_006353 nuclear RNA export factor 1 isoform 1 gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(1) 1 --- --- --- --- --- ---
PCDHB16 57717 broad.mit.edu 37 5 140561004 140561004 + 5'-UTR SNP G T T NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr5:140561004G>T uc003liv.2 + PCDHB16_uc010jfw.1_5'-Flank NM_020957 NP_066008 protocadherin beta 16 precursor calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 --- --- --- --- --- ---
PFAS 5198 broad.mit.edu 37 17 8161149 8161149 + Missense SNP C T T rs4791641 byFrequency;by1000genomes NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr17:8161149C>T uc002gkr.2 + c.1241C>T c.(1240-1242)CCA>CTA p.P367L PFAS_uc010vuv.1_5'-UTR NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 367 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) --- --- --- --- --- ---
PPFIBP2 8495 broad.mit.edu 37 11 7560175 7560175 + Intron SNP C G G NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr11:7560175C>G uc001mfj.3 + NM_003621 NP_003612 PTPRF interacting protein, binding protein 2 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding ovary(2)|breast(2) 4 --- --- --- --- --- ---
PPFIBP2 8495 broad.mit.edu 37 11 7647023 7647023 + Missense SNP C G G NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr11:7647023C>G uc001mfj.3 + c.1115C>G c.(1115-1117)CTG>GTG p.L243V PPFIBP2_uc010rbb.1_Missense_p.L166V|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_p.L166V|PPFIBP2_uc010rbd.1_Missense_p.L85V|PPFIBP2_uc010rbe.1_Missense_p.L131V|PPFIBP2_uc001mfl.3_Missense_p.L100V NM_003621 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 243 Potential. cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding ovary(2)|breast(2) 4 --- --- --- --- --- ---
RIMS4 140730 broad.mit.edu 37 20 43384068 43384068 + 3'-UTR SNP C A A NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr20:43384068C>A uc010ggu.2 - RIMS4_uc002xms.2_3'-UTR NM_182970 NP_892015 regulating synaptic membrane exocytosis 4 exocytosis|neurotransmitter transport cell junction|synapse ovary(4)|central_nervous_system(1) 5 Myeloproliferative disorder(115;0.0122) --- --- --- --- --- ---
SMAD2 4087 broad.mit.edu 37 18 45363951 45363951 + 3'-UTR SNP C A A rs76765089 NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr18:45363951C>A uc002lcy.2 - SMAD2_uc002lcz.2_3'-UTR|SMAD2_uc010xdc.1_3'-UTR NM_005901 NP_005892 Sma- and Mad-related protein 2 isoform 1 anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of gene-specific transcription|positive regulation of transcription from RNA polymerase II promoter|primary microRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol co-SMAD binding|double-stranded DNA binding|I-SMAD binding|promoter binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding large_intestine(3)|lung(1)|central_nervous_system(1) 5 --- --- --- --- --- ---
SP100 6672 broad.mit.edu 37 2 231331896 231331896 + Synonymous SNP G A A rs1050224 byFrequency;by1000genomes NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr2:231331896G>A uc002vqu.1 + c.1398G>A c.(1396-1398)TCG>TCA p.S419S SP100_uc002vqs.2_Synonymous_p.S419S|SP100_uc002vqt.2_Synonymous_p.S419S|SP100_uc002vqq.1_Synonymous_p.S419S|SP100_uc002vqr.1_Synonymous_p.S394S|SP100_uc010zmc.1_Synonymous_p.S394S|SP100_uc002vqv.1_Synonymous_p.S383S NM_001080391 NP_001073860 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 1 419 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral transcription|positive regulation of transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to interferon-gamma|response to retinoic acid|response to type I interferon|retinoic acid receptor signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|general transcriptional repressor activity|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) --- --- --- --- --- ---
TMPO 7112 broad.mit.edu 37 12 98907979 98907979 + 5'-Flank SNP C G G NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr12:98907979C>G uc001tfh.1 + LOC100128191_uc001tfg.2_Non-coding_Transcript|TMPO_uc001tfi.1_5'-Flank|TMPO_uc001tfj.2_5'-Flank|TMPO_uc001tfk.2_5'-Flank|TMPO_uc001tfl.2_5'-Flank NM_003276 NP_003267 thymopoietin isoform alpha integral to membrane|nuclear inner membrane DNA binding|lamin binding ovary(2) 2 --- --- --- --- --- ---
TRIOBP 11078 broad.mit.edu 37 22 38087624 38087624 + Intron SNP C A A rs72090121 NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr22:38087624C>A uc003atq.1 + NOL12_uc003ato.1_Intron|NOL12_uc003atp.2_3'-UTR NM_001039141 NP_001034230 TRIO and F-actin binding protein isoform 6 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) --- --- --- --- --- ---
TRIP12 9320 broad.mit.edu 37 2 230748384 230748384 + Intron SNP G A A NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr2:230748384G>A uc002vpx.1 - TRIP12_uc002vpw.1_Intron|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Intron NM_004238 NP_004229 thyroid hormone receptor interactor 12 proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|breast(1)|central_nervous_system(1) 6 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) --- --- --- --- --- ---
TRPM3 80036 broad.mit.edu 37 9 73347580 73347580 + Intron SNP C T T NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr9:73347580C>T uc004aid.2 - TRPM3_uc004ahu.2_Intron|TRPM3_uc004ahv.2_Intron|TRPM3_uc004ahw.2_Intron|TRPM3_uc004ahx.2_Intron|TRPM3_uc004ahy.2_Intron|TRPM3_uc004ahz.2_Intron|TRPM3_uc004aia.2_Intron|TRPM3_uc004aib.2_Intron|TRPM3_uc004aic.2_Intron|TRPM3_uc010mor.2_Intron NM_001007471 NP_001007472 transient receptor potential cation channel, ovary(3)|central_nervous_system(2)|pancreas(1) 6 --- --- --- --- --- ---
UBASH3A 53347 broad.mit.edu 37 21 43838214 43838214 + Intron SNP T C C NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr21:43838214T>C uc002zbe.2 + UBASH3A_uc002zbf.2_Intron|UBASH3A_uc010gpc.2_Intron|UBASH3A_uc010gpd.2_Intron|UBASH3A_uc010gpe.2_Intron NM_018961 NP_061834 ubiquitin associated and SH3 domain containing, cytosol|nucleus ovary(3) 3 --- --- --- --- --- ---
UBE2G2 7327 broad.mit.edu 37 21 46189358 46189358 + 3'-UTR SNP T C C rs235354 byFrequency NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr21:46189358T>C uc002zfy.2 - UBE2G2_uc002zfx.2_3'-UTR NM_003343 NP_003334 ubiquitin-conjugating enzyme E2G 2 isoform 1 post-translational protein modification|protein K48-linked ubiquitination|regulation of protein metabolic process cytosol ATP binding|protein binding|ubiquitin-protein ligase activity breast(3)|central_nervous_system(1) 4 --- --- --- --- --- ---
WWOX 51741 broad.mit.edu 37 16 79147624 79147624 + Intron SNP G C C NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr16:79147624G>C uc002ffk.2 + WWOX_uc010vnk.1_Intron|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron NM_016373 NP_057457 WW domain-containing oxidoreductase isoform 1 apoptosis|negative regulation of Wnt receptor signaling pathway|oxidation-reduction process|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity 0 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) --- --- --- --- --- ---
ZFAND5 7763 broad.mit.edu 37 9 74967940 74967940 + 3'-UTR SNP C T T NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr9:74967940C>T uc004aiv.2 - ZFAND5_uc010mox.1_3'-UTR|ZFAND5_uc010moy.1_3'-UTR|ZFAND5_uc004aix.2_3'-UTR|ZFAND5_uc004aiw.2_3'-UTR|ZFAND5_uc004aiy.2_3'-UTR NM_006007 NP_005998 zinc finger, AN1-type domain 5 DNA binding|zinc ion binding 0 --- --- --- --- --- ---
ZNF500 26048 broad.mit.edu 37 16 4802370 4802370 + Intron SNP C A A rs3747601 byFrequency;by1000genomes NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr16:4802370C>A uc010uxt.1 - ZNF500_uc002cxo.1_3'-UTR|ZNF500_uc002cxp.1_3'-UTR NM_021646 NP_067678 zinc finger protein 500 regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 --- --- --- --- --- ---
ZNF780B 163131 broad.mit.edu 37 19 40539798 40539798 + 3'-UTR SNP C A A NBL6 NBL6G Phase_I Unspecified Illumina GAIIx g.chr19:40539798C>A uc002omu.2 - ZNF780B_uc002omv.2_3'-UTR NM_001005851 NP_001005851 zinc finger protein 780B regulation of transcription, DNA-dependent|transcription nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) --- --- --- --- --- ---