C1orf101 257044 broad.mit.edu 37 1 244716022 244716022 + Missense SNP G C C NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chr1:244716022G>C uc001iam.2 + c.994G>C c.(993-995)GGA>GCA p.G312A C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.2_Missense_p.G312A|C1orf101_uc010pym.1_Missense_p.G161A|C1orf101_uc010pyn.1_Missense_p.G245A NM_001130957 NP_001124429 Q5SY80 CA101_HUMAN hypothetical protein LOC257044 isoform 1 312 Extracellular (Potential). integral to membrane ovary(1)|breast(1) 2 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) --- --- --- --- --- ---
CNTN2 6900 broad.mit.edu 37 1 205044842 205044842 + 3'-UTR SNP T C C rs28447128 by1000genomes NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chr1:205044842T>C uc001hbr.2 + CNTN2_uc001hbs.2_3'-UTR NM_005076 NP_005067 contactin 2 precursor axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) --- --- --- Melanoma(183;2548 2817 37099 41192) --- ---
DOCK6 57572 broad.mit.edu 37 19 11325235 11325235 + Synonymous SNP G A A rs35583018 byFrequency NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chr19:11325235G>A uc002mqs.3 - c.4238C>T c.(4236-4238)ATC>ATT p.I1399I DOCK6_uc010xlq.1_Synonymous_p.I738I NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1399 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 --- --- --- --- --- ---
GPRASP1 9737 broad.mit.edu 37 X 101910342 101910342 + Missense SNP T G G NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chrX:101910342T>G uc004ejj.3 + c.2302T>G c.(2302-2304)TGG>GGG p.W501G GPRASP1_uc004eji.3_Missense_p.W501G|GPRASP1_uc010nod.2_Missense_p.W501G NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 501 cytoplasm protein binding ovary(1)|lung(1) 2 --- --- --- --- --- ---
HTT 3064 broad.mit.edu 37 4 3184932 3184932 + Intron SNP C T T NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chr4:3184932C>T uc011bvq.1 + NM_002111 NP_002102 huntingtin establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex dynactin binding|dynein intermediate chain binding|p53 binding ovary(1)|lung(1) 2 all_epithelial(65;0.18) --- --- --- --- --- ---
HTT 3064 broad.mit.edu 37 4 3245336 3245336 + 3'-UTR SNP C T T NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chr4:3245336C>T uc011bvq.1 + NM_002111 NP_002102 huntingtin establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex dynactin binding|dynein intermediate chain binding|p53 binding ovary(1)|lung(1) 2 all_epithelial(65;0.18) --- --- --- --- --- ---
MAN2B1 4125 broad.mit.edu 37 19 12774208 12774208 + Missense SNP G C C rs1054486 byFrequency;by1000genomes NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chr19:12774208G>C uc002mub.2 - c.908C>G c.(908-910)CTG>GTG p.L278V MAN2B1_uc010dyv.1_Missense_p.L278V NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 278 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 --- --- --- --- --- ---
RAB31 11031 broad.mit.edu 37 18 9794067 9794067 + Intron SNP C A A NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chr18:9794067C>A uc002kog.2 + NM_006868 NP_006859 RAB31, member RAS oncogene family protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 --- --- --- --- --- ---
RAB31 11031 broad.mit.edu 37 18 9814067 9814067 + Synonymous SNP C A A NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chr18:9814067C>A uc002kog.2 + c.427C>A c.(425-427)ATC>ATA p.I84I NM_006868 NP_006859 Q13636 RAB31_HUMAN RAB31, member RAS oncogene family 83 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 --- --- --- --- --- ---
RIMS2 9699 broad.mit.edu 37 8 104550611 104550611 + Intron SNP G T T NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chr8:104550611G>T uc003ylp.2 + NM_001100117 NP_001093587 regulating synaptic membrane exocytosis 2 intracellular protein transport Rab GTPase binding|zinc ion binding ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1) 14 --- --- --- --- --- ---
SGSM1 129049 broad.mit.edu 37 22 25289497 25289497 + Missense SNP G T T NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chr22:25289497G>T uc003abg.2 + c.2192G>T c.(2192-2194)GCC>TCC p.A679S SGSM1_uc003abh.2_Intron|SGSM1_uc010guu.1_Missense_p.A624S|SGSM1_uc003abj.2_Intron|SGSM1_uc003abi.1_Missense_p.A599S NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN RUN and TBC1 domain containing 2 isoform 1 679 Rab-GAP TBC. regulation of Rab GTPase activity Golgi apparatus Rab GTPase activator activity central_nervous_system(2)|pancreas(1) 3 --- --- --- --- --- ---
SLC25A32 81034 broad.mit.edu 37 8 104412259 104412259 + 3'-UTR SNP G T T NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chr8:104412259G>T uc003yll.2 - SLC25A32_uc011lhr.1_3'-UTR NM_030780 NP_110407 solute carrier family 25, member 32 folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity ovary(1) 1 Folic Acid(DB00158) --- --- --- --- --- ---
STAP1 26228 broad.mit.edu 37 4 68456623 68456623 + Nonsense SNP C A A NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chr4:68456623C>A uc003hde.3 + c.763C>A c.(761-763)TAC>TAA p.Y227* STAP1_uc003hdf.2_Nonsense_p.Y227* NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 227 SH2. cellular membrane fusion|intracellular protein transport cytoplasm 0 --- --- --- --- --- ---
UBE2L3 7332 broad.mit.edu 37 22 21949497 21949497 + Intron SNP G T T NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chr22:21949497G>T uc002zva.1 + UBE2L3_uc011aig.1_Intron|UBE2L3_uc002zuz.1_Intron|UBE2L3_uc010gti.1_Intron NM_003347 NP_003338 ubiquitin-conjugating enzyme E2L 3 cell proliferation|cellular response to glucocorticoid stimulus|post-translational protein modification|protein K11-linked ubiquitination|protein polyubiquitination|regulation of gene-specific transcription|regulation of protein metabolic process|regulation of S phase of mitotic cell cycle|ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex ATP binding|enzyme binding|transcription coactivator activity|ubiquitin-protein ligase activity 0 Colorectal(54;0.105) --- --- --- --- --- ---
VCAN 1462 broad.mit.edu 37 5 82815637 82815637 + Synonymous SNP C T T NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chr5:82815637C>T uc003kii.3 + c.1868C>T c.(1866-1868)ATC>ATT p.I504I VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Synonymous_p.I504I|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 504 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(3)|lung(2)|central_nervous_system(1) 13 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) --- --- --- --- --- ---
ZNF799 90576 broad.mit.edu 37 19 12496208 12496208 + Intron SNP G C C NBL10 NBL10G Phase_I Unspecified Illumina GAIIx g.chr19:12496208G>C uc002mts.3 - Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****. regulation of transcription, DNA-dependent|transcription nucleus DNA binding|zinc ion binding breast(3) 3 --- --- --- --- --- ---