Genetic Distance (cM)	Physical Distance (bp)	LOD score	Chr	Start	End	Ref	Alt	MutType	Func.Sum	cDNA_change	AA_change	AA_property_before_change	AA_property_after_change	Human_symbol	Mouse_symbol	Ensemble ID	Approved Name	Genomic Coordinate	Function Description	Human Disease	KO Mouse Phenotype	Pathway	Biological Process	Cellular Component	Molecular Function	GeneCards	UniprotKB	HPO	OMIM	MGI	PubMed	avsnp147	1000g_MAF	esp6500_MAF	exac03_MAF	noxious_ratio	pred_noxious	pred_covered	Func.refGene	Func.knownGene	Func.ensGene	Gene.refGene	Gene.knownGene	Gene.ensGene	ExonicFunc.refGene	ExonicFunc.knownGene	ExonicFunc.ensGene	AAChange.refGene	AAChange.knownGene	AAChange.ensGene	302_Male_Control	Quality;R|A_302_Male_Control	401_Male_Control	Quality;R|A_401_Male_Control	402_Male_Patient	Quality;R|A_402_Male_Patient
N	N	-	10	102089663	102089663	C	T	snp	nonsynonymous SNV	G35A	C12Y	polar,hydrophobic,neutral	aromatic,polar,hydrophobic	PKD2L1	Pkd2l1	ENSG00000107593	polycystin 2 like 1, transient receptor potential cation channel	chr10:102047903-102090243	This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Phospholipids; Metabolism; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit decreased chorda tympani nerve response to sour tastants.		GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0035725;sodium ion transmembrane transport;IDA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070207;protein homotrimerization;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;IEA|GO:0071805;potassium ion transmembrane transport;IDA	GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IMP|GO:0005929;cilium;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;NAS|GO:0034703;cation channel complex;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043235;receptor complex;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005227;calcium activated cation channel activity;IDA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;IEA|GO:0005272;sodium channel activity;IDA|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0033040;sour taste receptor activity;IEA|GO:0042802;identical protein binding;IEA|GO:0051371;muscle alpha-actinin binding;IPI|GO:0051393;alpha-actinin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD2L1	https://www.uniprot.org/uniprot/Q9P0L9		https://www.ncbi.nlm.nih.gov/omim/?term=604532	http://www.informatics.jax.org/searchtool/Search.do?query=PKD2L1&submit=Quick%0D%3619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD2L1	rs569511	0.136781	0.1253	0.1438	1	0	0	exonic	exonic	exonic	PKD2L1	PKD2L1	ENSG00000107593	nonsynonymous SNV	nonsynonymous SNV	unknown	PKD2L1:NM_001253837:exon1:c.G35A:p.C12Y,	PKD2L1:uc009xwm.1:exon1:c.G35A:p.C12Y,	UNKNOWN	Het;C>T	1291;86|61	Ref		Hom;C>T	1982;1|75
N	N	-	10	102744331	102744331	A	T	snp	nonsynonymous SNV	A1790T	D597V	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	SEMA4G	Sema4g	ENSG00000095539	semaphorin 4G	chr10:102729275-102745628	Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]	Alzheimer's disease ; Carcinoma, Renal Cell|Kidney Neoplasms	Mice homozygous for a targeted allele exhibit normal cerebellar morphology.		GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEMA4G	https://www.uniprot.org/uniprot/Q9NTN9			http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4G&submit=Quick%0D%2249ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4G	rs11591349	0.255591	0	0.4047	0.17	2	12	exonic	exonic	exonic	SEMA4G	SEMA4G	ENSG00000095539	nonsynonymous SNV	nonsynonymous SNV	unknown	SEMA4G:NM_001203244:exon14:c.A1790T:p.D597V,	SEMA4G:uc001krx.3:exon14:c.A1790T:p.D597V,	UNKNOWN	Het;A>T	1451;76|66	Het;A>T	1340;53|58	Hom;A>T	2396;0|91
N	N	-	10	102770293	102770293	T	TGCTGCG	indel	nonframeshift substitution	2353_2353delinsCGCAGCA	 	 	 	PDZD7	Pdzd7	ENSG00000186862	PDZ domain containing 7	chr10:102767440-102790890	This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]	Alcoholism	Mice homozygous for a knock-out allele exhibit profound deafness due to abnormal outer cochlear hair cell morphology and function.		GO:0045184;establishment of protein localization;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060088;auditory receptor cell stereocilium organization;IEA|GO:0060117;auditory receptor cell development;IEA	GO:0002141;stereocilia ankle link;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005929;cilium;IDA|GO:0042995;cell projection;IEA|GO:1990696;USH2 complex;IEA	GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZD7		https://hpo.jax.org/app/browse/search?q=PDZD7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612971	http://www.informatics.jax.org/searchtool/Search.do?query=PDZD7&submit=Quick%0D%15724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD7	rs200896335	0.246805	0	0.3828	1	0	0	exonic	exonic	UTR3	PDZD7	PDZD7	ENSG00000186862(ENST00000474125:c.*2300A>CGCAGCA)	nonframeshift substitution	nonframeshift substitution	Na	PDZD7:NM_001195263:exon15:c.2353_2353delinsCGCAGCA,	PDZD7:uc021pxc.1:exon15:c.2353_2353delinsCGCAGCA,	Na	Het;+GCTGCG	2253;58|61	Het;+GCTGCG	1378;32|36	Hom;+GCTGCG	2263;4|87
N	N	-	10	105233110	105233110	C	T	snp	nonsynonymous SNV	G895A	D299N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	CALHM3		ENSG00000183128	calcium homeostasis modulator 3	chr10:105232561-105238997		Alzheimer's disease ; Alzheimer's disease	Mice homozygous for a knock-out allele exhibit impaired voltage-activated nonselective currents, avoidance of bitter and salty taste, and loss of preference for sweet and unami.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0034220;ion transmembrane transport;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005261;cation channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CALHM3				http://www.informatics.jax.org/searchtool/Search.do?query=CALHM3&submit=Quick%0D%14926ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CALHM3	rs2986035	0.740216	0	0.7652	0.15	2	13	exonic	exonic	exonic	CALHM3	CALHM3	ENSG00000183128	nonsynonymous SNV	nonsynonymous SNV	unknown	CALHM3:NM_001129742:exon3:c.G895A:p.D299N,	CALHM3:uc001kxg.4:exon3:c.G895A:p.D299N,	UNKNOWN	Het;C>T	1697;63|70	Het;C>T	1437;32|64	Hom;C>T	2547;0|89
N	N	-	10	105763026	105763026	C	T	snp	nonsynonymous SNV	C2090T	T697I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	SLK	Slk	ENSG00000065613	STE20 like kinase	chr10:105726959-105788991		Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease 	Mice homozygous for a gene trapped allele die by E14.5, exhibiting severe developmental defects, impaired neuronal and skeletal muscle development, abnormal placental differentiation and vascularization, and increased apoptosis.		GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030334;regulation of cell migration;IMP|GO:0031122;cytoplasmic microtubule organization;IMP|GO:0042981;regulation of apoptotic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0051893;regulation of focal adhesion assembly;IDA	GO:0005737;cytoplasm;IDA|GO:0031252;cell leading edge;ISS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLK	https://www.uniprot.org/uniprot/Q9H2G2		https://www.ncbi.nlm.nih.gov/omim/?term=616563	http://www.informatics.jax.org/searchtool/Search.do?query=SLK&submit=Quick%0D%1185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLK	rs3740469	0.163938	0.1949	0.2161	0.38	5	13	exonic	exonic	exonic	SLK	SLK	ENSG00000065613	nonsynonymous SNV	nonsynonymous SNV	unknown	SLK:NM_014720:exon9:c.C2090T:p.T697I,SLK:NM_001304743:exon9:c.C2090T:p.T697I,	SLK:uc001kxo.1:exon9:c.C2090T:p.T697I,SLK:uc001kxp.1:exon9:c.C2090T:p.T697I,	UNKNOWN	Het;C>T	1533;71|70	Het;C>T	1640;59|66	Hom;C>T	4522;0|159
N	N	-	10	105793750	105793750	T	C	snp	nonsynonymous SNV	A4109G	D1370G	polar,hydrophilic,charged(-)	aliphatic,neutral	COL17A1	Col17a1	ENSG00000065618	collagen type XVII alpha 1 chain	chr10:105791044-105845760	This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]	kidney aging; Alzheimer's disease ; bullous pemphigoid; Tobacco Use Disorder; periodontitis; Cardiomegaly	Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality.	Collagen chain trimerization	GO:0007160;cell-matrix adhesion;TAS|GO:0008544;epidermis development;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0050776;regulation of immune response;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005604;basement membrane;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030056;hemidesmosome;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL17A1	https://www.uniprot.org/uniprot/Q9UMD9	https://hpo.jax.org/app/browse/search?q=COL17A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=113811	http://www.informatics.jax.org/searchtool/Search.do?query=COL17A1&submit=Quick%0D%1187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL17A1	rs17116350	0.258586	0.2903	0.2482	0.15	2	13	exonic	exonic	exonic	COL17A1	COL17A1	ENSG00000065618	nonsynonymous SNV	nonsynonymous SNV	unknown	COL17A1:NM_000494:exon52:c.A4109G:p.D1370G,	COL17A1:uc001kxr.3:exon52:c.A4109G:p.D1370G,	UNKNOWN	Het;T>C	1496;68|64	Het;T>C	1446;60|63	Hom;T>C	2639;3|90
N	N	-	10	105957714	105957714	A	G	snp	nonsynonymous SNV	T1178C	I393T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	WDR96	 																	rs10883979	0.076877	0.0497	0.0640	0.00	0	13	exonic	exonic	exonic	CFAP43	WDR96	ENSG00000197748	nonsynonymous SNV	nonsynonymous SNV	unknown	CFAP43:NM_025145:exon9:c.T1178C:p.I393T,	WDR96:uc001kxw.3:exon9:c.T1178C:p.I393T,WDR96:uc001kxx.4:exon9:c.T1181C:p.I394T,WDR96:uc001kxy.1:exon9:c.T1181C:p.I394T,	UNKNOWN	Het;A>G	2513;115|113	Ref		Hom;A>G	6141;0|228
N	N	-	10	115439530	115439530	G	C	snp	nonsynonymous SNV	G17C	R6P	polar,hydrophilic,charged(+)	hydrophobic,neutral	CASP7	Casp7	ENSG00000165806	caspase 7	chr10:115438942-115490662	This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]	Arthritis, Rheumatoid|; colorectal cancer; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Endometrial Neoplasms|; rheumatoid arthritis; Gastrointestinal Stromal Tumors; esophageal adenocarcinoma; smoking cessation; lung cancer; Type 2 Diabetes| edema | rosiglitazone; Adenocarcinoma|Neoplasms, Prostatic|Prostatic Neoplasms; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Magnesium; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Alzheimer's disease ; benzene haematotoxicity; Lymphoma, Non-Hodgkin; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; lung cancer ; longevity; Adenocarcinoma|Lymphatic Metastasis|Stomach Neoplasms; Alzheimer Disease|Alzheimer's Disease|Amnesia; diabetes, type 1; Tobacco Use Disorder; multiple sclerosis	Mice homozygous for a targeted mutation have normal appearance, organ morphology and lymphoid development.	Caspase-mediated cleavage of cytoskeletal proteins	GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;TAS|GO:0007507;heart development;IEA|GO:0007568;aging;IEA|GO:0008635;activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c;TAS|GO:0009411;response to UV;IEA|GO:0016485;protein processing;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0072734;cellular response to staurosporine;IMP|GO:0097194;execution phase of apoptosis;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004190;aspartic-type endopeptidase activity;IEA|GO:0004197;cysteine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0097153;cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0097200;cysteine-type endopeptidase activity involved in execution phase of apoptosis;IMP	http://www.genecards.org/index.php?path=/Search/keyword/CASP7			https://www.ncbi.nlm.nih.gov/omim/?term=601761	http://www.informatics.jax.org/searchtool/Search.do?query=CASP7&submit=Quick%0D%11630ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CASP7	rs28411397	0.275559	0	0.5130	0.25	1	4	exonic	exonic	UTR5	CASP7	CASP7	ENSG00000165806(ENST00000369321:c.-12201G>C,ENST00000345633:c.-17723G>C)	nonsynonymous SNV	nonsynonymous SNV	Na	CASP7:NM_001267057:exon1:c.G17C:p.R6P,	CASP7:uc010qsa.3:exon1:c.G17C:p.R6P,	Na	Het;G>C	83;16|6	Het;G>C	145;13|9	Hom;G>C	476;0|18
N	N	-	10	124742895	124742895	G	C	snp	nonsynonymous SNV	G616C	G206R	aliphatic,neutral	polar,hydrophilic,charged(+)	PSTK	Pstk	ENSG00000179988	phosphoseryl-tRNA kinase	chr10:124713897-124757029		Acquired Immunodeficiency Syndrome|Disease Progression	 	Selenocysteine synthesis	GO:0001514;selenocysteine incorporation;IEA|GO:0006412;translation;IEA|GO:0016310;phosphorylation;IEA|GO:0097056;selenocysteinyl-tRNA(Sec) biosynthetic process;IEA	GO:0005739;mitochondrion;IEA	GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PSTK			https://www.ncbi.nlm.nih.gov/omim/?term=611310	http://www.informatics.jax.org/searchtool/Search.do?query=PSTK&submit=Quick%0D%14420ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSTK	rs3736582	0.581669	0.6885	0.6339	0.23	3	13	exonic	exonic	exonic	PSTK	PSTK	ENSG00000179988	nonsynonymous SNV	nonsynonymous SNV	unknown	PSTK:NM_153336:exon3:c.G616C:p.G206R,	PSTK:uc001lgy.1:exon3:c.G616C:p.G206R,	UNKNOWN	Het;G>C	1752;74|84	Het;G>C	610;79|36	Hom;G>C	2974;0|115
N	N	-	10	129245684	129245684	G	A	snp	nonsynonymous SNV	G5377A	A1793T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	DOCK1	Dock1	ENSG00000150760	dedicator of cytokinesis 1	chr10:128593978-129250781	This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]	Alzheimer's disease ; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Asthma|Hypersensitivity; Stroke; Body Weight; Magnesium; Tobacco Use Disorder	Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate.	Factors involved in megakaryocyte development and platelet production	GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006909;phagocytosis;IEA|GO:0006911;phagocytosis, engulfment;TAS|GO:0006915;apoptotic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007229;integrin-mediated signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0007596;blood coagulation;TAS|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0016477;cell migration;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0032045;guanyl-nucleotide exchange factor complex;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DOCK1	https://www.uniprot.org/uniprot/Q14185		https://www.ncbi.nlm.nih.gov/omim/?term=601403	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK1&submit=Quick%0D%9348ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK1	rs869801	0.204673	0.2375	0.2566	0.08	1	12	exonic	exonic	exonic	DOCK1	DOCK1	ENSG00000150760	nonsynonymous SNV	nonsynonymous SNV	unknown	DOCK1:NM_001290223:exon51:c.G5440A:p.A1814T,DOCK1:NM_001380:exon51:c.G5377A:p.A1793T,	DOCK1:uc001ljt.3:exon51:c.G5377A:p.A1793T,DOCK1:uc009yaq.3:exon23:c.G2375A:p.G792D,DOCK1:uc010qun.2:exon51:c.G5440A:p.A1814T,	UNKNOWN	Het;G>A	2516;113|119	Het;G>A	2059;102|96	Hom;G>A	4894;4|182
N	N	-	10	129917560	129917560	T	C	snp	nonsynonymous SNV	A311G	N104S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MKI67	Mki67	ENSG00000148773	marker of proliferation Ki-67	chr10:129894923-129924649	This gene encodes a nuclear protein that is associated with and may be necessary for cellular proliferation. Alternatively spliced transcript variants have been described. A related pseudogene exists on chromosome X. [provided by RefSeq, Mar 2009]	longevity; select biomarker traits; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; pharmacogenetic studies; Alzheimer's disease ; head and neck cancer; ovarian cancer; Coronary Disease|Coronary heart disease|Myocardial Infarction	Mice carrying a reporter allele show expression in actively dividing cells.		GO:0006259;DNA metabolic process;IEA|GO:0007049;cell cycle;IEA|GO:0007088;regulation of mitotic nuclear division;IDA|GO:0008283;cell proliferation;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0030212;hyaluronan metabolic process;IEA|GO:0031100;animal organ regeneration;IEA|GO:0034605;cellular response to heat;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051983;regulation of chromosome segregation;IDA|GO:1902275;regulation of chromatin organization;ISS	GO:0000775;chromosome, centromeric region;IEA|GO:0000793;condensed chromosome;IDA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MKI67	https://www.uniprot.org/uniprot/P46013		https://www.ncbi.nlm.nih.gov/omim/?term=176741	http://www.informatics.jax.org/searchtool/Search.do?query=MKI67&submit=Quick%0D%9157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MKI67	rs2071498	0.633986	0.6151	0.6476	0.31	4	13	exonic	exonic	exonic	MKI67	MKI67	ENSG00000148773	nonsynonymous SNV	nonsynonymous SNV	unknown	MKI67:NM_002417:exon5:c.A311G:p.N104S,MKI67:NM_001145966:exon5:c.A311G:p.N104S,	MKI67:uc001lkf.3:exon5:c.A311G:p.N104S,MKI67:uc001lke.3:exon5:c.A311G:p.N104S,MKI67:uc009yav.1:exon2:c.A116G:p.N39S,	UNKNOWN	Het;T>C	855;67|43	Het;T>C	1249;60|60	Hom;T>C	3858;0|144
N	N	-	10	134180354	134180354	G	A	snp	nonsynonymous SNV	G1040A	R347Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	LRRC27	Lrrc27	ENSG00000148814	leucine rich repeat containing 27	chr10:134145614-134195010			 		GO:0007165;signal transduction;IBA	GO:0005886;plasma membrane;IBA		http://www.genecards.org/index.php?path=/Search/keyword/LRRC27	https://www.uniprot.org/uniprot/Q9C0I9			http://www.informatics.jax.org/searchtool/Search.do?query=LRRC27&submit=Quick%0D%9161ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC27	rs45513097	0.0934505	0	0.0918	1	0	0	intronic	exonic	exonic	LRRC27	LRRC27	ENSG00000148814	Na	nonsynonymous SNV	unknown	Na	LRRC27:uc001llk.4:exon10:c.G1040A:p.R347Q,	UNKNOWN	Het;G>A	1794;77|81	Ref		Hom;G>A	4352;0|166
N	N	-	10	134902396	134902396	C	G	snp	nonsynonymous SNV	C1615G	R539G	polar,hydrophilic,charged(+)	aliphatic,neutral	GPR123																		rs10776692	0.618211	0.5579	0.6300	0.12	1	8	UTR5	exonic	exonic	ADGRA1(NM_001083909:c.-18C>G)	GPR123	ENSG00000197177	Na	nonsynonymous SNV	unknown	Na	GPR123:uc001llw.3:exon9:c.C1615G:p.R539G,	UNKNOWN	Het;C>G	421;25|23	Het;C>G	625;23|31	Hom;C>G	2416;0|54
N	N	-	10	135273463	135273463	C	G	snp	nonsynonymous SNV	C771G	D257E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	LOC619207																		rs731947	0.721645	0	0.8652	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	SCART1	LOC619207	ENSG00000214279	Na	nonsynonymous SNV	Na	Na	LOC619207:uc001lnh.1:exon4:c.C771G:p.D257E,	Na	Het;C>G	853;47|33	Het;C>G	1143;39|43	Hom;C>G	2213;0|77
N	N	-	10	135278193	135278193	A	G	snp	nonsynonymous SNV	A1066G	M356V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	LOC619207																		rs2492654	0.805312	0	0.8948	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	SCART1	LOC619207	ENSG00000214279	Na	nonsynonymous SNV	Na	Na	LOC619207:uc001lnh.1:exon5:c.A1066G:p.M356V,	Na	Het;A>G	1470;70|67	Het;A>G	1731;88|82	Hom;A>G	4616;2|175
N	N	-	10	15008493	15008493	A	C	snp	nonsynonymous SNV	A26C	K9T	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	MEIG1	Meig1	ENSG00000197889	meiosis/spermiogenesis associated 1	chr10:15001438-15030049			Mice homozygous for a knock-out allele exhibit male sterility with arrested spermatogenesis, absent sperm flagellum, and deformed sperm heads.		GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IBA		http://www.genecards.org/index.php?path=/Search/keyword/MEIG1			https://www.ncbi.nlm.nih.gov/omim/?term=614174	http://www.informatics.jax.org/searchtool/Search.do?query=MEIG1&submit=Quick%0D%16744ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIG1	rs4750568	0.611222	0.6532	0.6597	0.67	8	12	exonic	exonic	exonic	MEIG1	MEIG1	ENSG00000197889	nonsynonymous SNV	nonsynonymous SNV	unknown	MEIG1:NM_001080836:exon2:c.A26C:p.K9T,	MEIG1:uc009xjk.1:exon2:c.A26C:p.K9T,	UNKNOWN	Het;A>C	1242;57|53	Het;A>C	2151;64|95	Hom;A>C	3980;0|143
N	N	-	10	18266989	18266989	G	A	snp	nonsynonymous SNV	G910A	V304I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SLC39A12	Slc39a12	ENSG00000148482	solute carrier family 39 member 12	chr10:18240768-18332221	Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008]	Tobacco Use Disorder; Alzheimer's disease ; prostate cancer; Blood Pressure; Triglycerides; Waist Circumference; Lipids; Inflammatory Bowel Diseases; Hypertension; Body Height; Clozapine	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006829;zinc II ion transport;IEA|GO:0006882;cellular zinc ion homeostasis;IBA|GO:0007165;signal transduction;IBA|GO:0010975;regulation of neuron projection development;IEA|GO:0030001;metal ion transport;IEA|GO:0031113;regulation of microtubule polymerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071578;zinc II ion transmembrane import;IBA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:1903561;extracellular vesicle;IDA	GO:0005385;zinc ion transmembrane transporter activity;IBA|GO:0046873;metal ion transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC39A12	https://www.uniprot.org/uniprot/Q504Y0		https://www.ncbi.nlm.nih.gov/omim/?term=608734	http://www.informatics.jax.org/searchtool/Search.do?query=SLC39A12&submit=Quick%0D%9126ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC39A12	rs2478568	0.664736	0.6296	0.6587	0.08	1	13	exonic	exonic	exonic	SLC39A12	SLC39A12	ENSG00000148482	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC39A12:NM_001145195:exon5:c.G910A:p.V304I,SLC39A12:NM_152725:exon5:c.G910A:p.V304I,SLC39A12:NM_001282734:exon4:c.G508A:p.V170I,SLC39A12:NM_001282733:exon5:c.G910A:p.V304I,	SLC39A12:uc001ipp.2:exon5:c.G910A:p.V304I,SLC39A12:uc010qck.1:exon4:c.G508A:p.V170I,SLC39A12:uc001ipn.2:exon5:c.G910A:p.V304I,SLC39A12:uc001ipo.2:exon5:c.G910A:p.V304I,	UNKNOWN	Het;G>A	847;30|39	Het;G>A	806;31|37	Hom;G>A	2358;0|89
N	N	-	10	29578084	29578084	A	G	snp	nonsynonymous SNV	A38G	K13R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	LYZL1	Lyzl1	ENSG00000120563	lysozyme like 1	chr10:29577990-29607257		Tobacco Use Disorder	Female homozygous mutant mice exhibit a decreased mean heart rate. Male mice homozygous for a null allele display normal fertility and testis morphology.		GO:0008152;metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0003796;lysozyme activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LYZL1	https://www.uniprot.org/uniprot/Q6UWQ5			http://www.informatics.jax.org/searchtool/Search.do?query=LYZL1&submit=Quick%0D%5220ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LYZL1	rs2532753	0.676917	0	0.6467	0.42	5	12	exonic	exonic	exonic	LYZL1	LYZL1	ENSG00000120563	nonsynonymous SNV	nonsynonymous SNV	unknown	LYZL1:NM_032517:exon1:c.A38G:p.K13R,	LYZL1:uc001iul.3:exon1:c.A38G:p.K13R,	UNKNOWN	Het;A>G	1360;111|69	Het;A>G	782;112|43	Hom;A>G	3581;0|139
N	N	-	10	60573753	60573753	G	T	snp	nonsynonymous SNV	G1463T	R488L	polar,hydrophilic,charged(+)	aliphatic,hydrophobic,neutral	BICC1	Bicc1	ENSG00000122870	BicC family RNA binding protein 1	chr10:60272900-60591195	This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009]	Alzheimer's disease ; Tobacco Use Disorder; Alzheimer's Disease; Metabolism; depression	Homozygous inactivation of this gene causes heteroxia, impaired nodal flow, ventricular septal defects, partial prenatal lethality and postnatal death due to renal failure. Chemically induced mutants develop kidney cysts and may show bulging abdomens, bile duct anomalies and cardiovascular defects.		GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA	GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BICC1	https://www.uniprot.org/uniprot/Q9H694		https://www.ncbi.nlm.nih.gov/omim/?term=614295	http://www.informatics.jax.org/searchtool/Search.do?query=BICC1&submit=Quick%0D%5464ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BICC1	rs9416746	0.746605	0.7512	0.7469	0.27	3	11	intronic	exonic	exonic	BICC1	BICC1	ENSG00000122870	Na	nonsynonymous SNV	unknown	Na	BICC1:uc001jkj.1:exon10:c.G1463T:p.R488L,	UNKNOWN	Het;G>T	1686;72|69	Ref		Hom;G>T	3752;2|133
N	N	-	10	60588553	60588553	T	C	snp	nonsynonymous SNV	T2827C	S943P	polar,hydrophilic,neutral	hydrophobic,neutral	BICC1	Bicc1	ENSG00000122870	BicC family RNA binding protein 1	chr10:60272900-60591195	This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009]	Alzheimer's disease ; Tobacco Use Disorder; Alzheimer's Disease; Metabolism; depression	Homozygous inactivation of this gene causes heteroxia, impaired nodal flow, ventricular septal defects, partial prenatal lethality and postnatal death due to renal failure. Chemically induced mutants develop kidney cysts and may show bulging abdomens, bile duct anomalies and cardiovascular defects.		GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA	GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BICC1	https://www.uniprot.org/uniprot/Q9H694		https://www.ncbi.nlm.nih.gov/omim/?term=614295	http://www.informatics.jax.org/searchtool/Search.do?query=BICC1&submit=Quick%0D%5464ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BICC1	rs4948550	0.607428	0.6205	0.7003	0.15	2	13	exonic	exonic	exonic	BICC1	BICC1	ENSG00000122870	nonsynonymous SNV	nonsynonymous SNV	unknown	BICC1:NM_001080512:exon21:c.T2827C:p.S943P,	BICC1:uc001jki.1:exon21:c.T2827C:p.S943P,	UNKNOWN	Het;T>C	1202;54|55	Ref		Hom;T>C	3357;0|125
N	N	-	10	64415184	64415184	A	G	snp	nonsynonymous SNV	A184G	T62A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	ZNF365	Zfp365	ENSG00000138311	zinc finger protein 365	chr10:64133951-64431771	This gene encodes several isoforms which have different expression patterns and functions. Mutation in this gene is associated with uric acid nephrolithiasis (UAN). Alternatively spliced variants, encoding distinct proteins, have been identified. [provided by RefSeq, May 2010]	Crohn Disease|Crohn's disease; Crohn's disease; Inflammatory Bowel Diseases; smoking cessation; Crohn Disease; Intelligence; Tobacco Use Disorder; Alzheimer's disease ; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Erythrocytes	Mice homozygous for a knock-out allele exhibit abnormal cortical basket cells in the somatosensory cortices, delayed myelination in the corpus callosum during the early postnatal period, and an increase in immature oligodendrocytes.		GO:0000281;mitotic cytokinesis;IMP|GO:0033566;gamma-tubulin complex localization;IMP	GO:0000930;gamma-tubulin complex;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF365	https://www.uniprot.org/uniprot/Q70YC4	https://hpo.jax.org/app/browse/search?q=ZNF365&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607818	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF365&submit=Quick%0D%7705ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF365	rs7076156	0.871206	0.8056	0.7939	0.17	2	12	exonic	exonic	exonic	ZNF365	ZNF365	ENSG00000138311	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF365:NM_199452:exon4:c.A184G:p.T62A,	ZNF365:uc001jmd.1:exon4:c.A184G:p.T62A,	UNKNOWN	Het;A>G	1524;81|67	Het;A>G	1564;71|72	Hom;A>G	3628;0|129
N	N	-	10	70405855	70405855	A	G	snp	nonsynonymous SNV	A3369G	I1123M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	TET1	Tet1	ENSG00000138336	tet methylcytosine dioxygenase 1	chr10:70320413-70454239	DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) family. Members of the TET protein family play a role in the DNA methylation process and gene activation. [provided by RefSeq, Sep 2015]	Alzheimer's disease ; Leukemia, Myeloid, Acute|Leukemia, Myelomonocytic, Chronic|Myeloproliferative Disorders	Mice homozygous for a knock-out allele exhibit background sensitive lethality, abnormal forebrain development, abnormal female reproductive organs and decreased litter size. Mice homozygous for a different knock-out allele exhibit impaired adult neurogenesis, impaired spatial learning and impaired short-term memory retention.	TET1,2,3 and TDG demethylate DNA	GO:0001826;inner cell mass cell differentiation;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006493;protein O-linked glycosylation;ISS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA|GO:0019827;stem cell population maintenance;ISS|GO:0031062;positive regulation of histone methylation;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0080111;DNA demethylation;IMP|GO:0090310;negative regulation of methylation-dependent chromatin silencing;IMP|GO:0001826;inner cell mass cell differentiation;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006493;protein O-linked glycosylation;ISS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA|GO:0019827;stem cell population maintenance;ISS|GO:0031062;positive regulation of histone methylation;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0080111;DNA demethylation;IMP|GO:0090310;negative regulation of methylation-dependent chromatin silencing;IMP	GO:0005634;nucleus;IC	GO:0003677;DNA binding;IDA|GO:0005506;iron ion binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA|GO:0070579;methylcytosine dioxygenase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TET1	https://www.uniprot.org/uniprot/Q8NFU7		https://www.ncbi.nlm.nih.gov/omim/?term=607790	http://www.informatics.jax.org/searchtool/Search.do?query=TET1&submit=Quick%0D%4ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TET1	rs3998860	0.693291	0.7212	0.7737	0.08	1	13	exonic	exonic	exonic	TET1	TET1	ENSG00000138336	nonsynonymous SNV	nonsynonymous SNV	unknown	TET1:NM_030625:exon4:c.A3369G:p.I1123M,	TET1:uc001jok.4:exon4:c.A3369G:p.I1123M,	UNKNOWN	Het;A>G	1772;83|66	Ref		Hom;A>G	3431;0|112
N	N	-	10	70641860	70641860	T	C	snp	nonsynonymous SNV	T457C	Y153H	aromatic,polar,hydrophobic	aromatic,polar,hydrophilic,charged(+)	STOX1	Stox1	ENSG00000165730	storkhead box 1	chr10:70587298-70655188	The protein encoded by this gene may function as a DNA binding protein. Mutations in this gene are associated with pre-eclampsia/eclampsia 4 (PEE4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]	Lipids; preeclampsia	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010468;regulation of gene expression;IMP|GO:0010628;positive regulation of gene expression;IMP|GO:0010629;negative regulation of gene expression;IMP|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IMP|GO:0010821;regulation of mitochondrion organization;IMP|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IMP|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0045787;positive regulation of cell cycle;IEA|GO:0048839;inner ear development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0051301;cell division;IEA|GO:0051881;regulation of mitochondrial membrane potential;IMP|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;IMP|GO:0071500;cellular response to nitrosative stress;IMP|GO:1901858;regulation of mitochondrial DNA metabolic process;IMP|GO:1902882;regulation of response to oxidative stress;IMP|GO:1904031;positive regulation of cyclin-dependent protein kinase activity;IMP|GO:1904120;positive regulation of otic vesicle morphogenesis;IEA	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STOX1		https://hpo.jax.org/app/browse/search?q=STOX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609397	http://www.informatics.jax.org/searchtool/Search.do?query=STOX1&submit=Quick%0D%11613ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STOX1	rs1341667	0.61242	0.5717	0.6231	0.50	6	12	exonic	exonic	exonic	STOX1	STOX1	ENSG00000165730	nonsynonymous SNV	nonsynonymous SNV	unknown	STOX1:NM_001130159:exon2:c.T457C:p.Y153H,STOX1:NM_001130160:exon2:c.T457C:p.Y153H,STOX1:NM_152709:exon2:c.T457C:p.Y153H,STOX1:NM_001130161:exon2:c.T457C:p.Y153H,	STOX1:uc001jos.2:exon2:c.T457C:p.Y153H,STOX1:uc009xpy.3:exon2:c.T457C:p.Y153H,STOX1:uc001jor.3:exon2:c.T457C:p.Y153H,STOX1:uc001joq.3:exon2:c.T127C:p.Y43H,STOX1:uc021prw.1:exon2:c.T127C:p.Y43H,	UNKNOWN	Het;T>C	1214;74|54	Ref		Hom;T>C	4207;0|152
N	N	-	10	73767859	73767859	G	A	snp	nonsynonymous SNV	G1070A	R357Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	CHST3	Chst3	ENSG00000122863	carbohydrate sulfotransferase 3	chr10:73724123-73773322	This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]	Alzheimer's disease ; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; Myocardial Infarction; Pancreatic Neoplasms	Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen.	Chondroitin sulfate biosynthesis	GO:0005975;carbohydrate metabolic process;IEA|GO:0006790;sulfur compound metabolic process;IDA|GO:0030206;chondroitin sulfate biosynthetic process;TAS	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001517;N-acetylglucosamine 6-O-sulfotransferase activity;IBA|GO:0008146;sulfotransferase activity;TAS|GO:0008459;chondroitin 6-sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHST3	https://www.uniprot.org/uniprot/Q7LGC8	https://hpo.jax.org/app/browse/search?q=CHST3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603799	http://www.informatics.jax.org/searchtool/Search.do?query=CHST3&submit=Quick%0D%5463ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST3	rs3740129	0.273962	0.3581	0.3643	0.15	2	13	exonic	exonic	exonic	CHST3	CHST3	ENSG00000122863	nonsynonymous SNV	nonsynonymous SNV	unknown	CHST3:NM_004273:exon3:c.G1070A:p.R357Q,	CHST3:uc001jsn.3:exon3:c.G1070A:p.R357Q,	UNKNOWN	Het;G>A	1391;86|60	Het;G>A	1447;72|60	Hom;G>A	3212;0|117
N	N	-	10	75673101	75673101	T	C	snp	nonsynonymous SNV	T314C	L105P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	PLAU	Plau	ENSG00000122861	plasminogen activator, urokinase	chr10:75668935-75677255	This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimer's disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]	bone density; osteoporosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; multiple sclerosis; Alzheimer's disease; bronchopulmonary dysplasia; bone density; Alzheimer's disease; Abeta load; Abeta42 concentration; lung cancer; Respiratory Distress Syndrome, Adult; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; thyroid cancer; ovarian cancer; Urinary Calculi; mitral valve prolapse; prostate cancer; Aging/ Telomere Length; Heart Rate; Chronic renal failure|Kidney Failure, Chronic; oral cancer; rheumatoid arthritis; Quebec platelet disorder; colorectal cancer; asthma atopy; urolithiasis; Hepatopulmonary Syndrome; Dehydroepiandrosterone; insulin; diabetes, type 1; Alzheimer's disease ; late-onset Alzheimer's disease; cognitive trait; lung cancer ; Alzheimer's Disease; Bacteremia|Gram-Negative Bacterial Infections; nephrolithiasis; Pneumoconiosis; ovarian cancer ; Myocardial Infarction; normal variation; bladder cancer; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Type 2 Diabetes| edema | rosiglitazone	Homozygotes show occasional fibrin deposits in non-healing ulcerations and reduced neointima formation after arterial injury.  They are susceptible to thrombosis after traumatic or inflammatory challenge and appear to be immunologically hyporesponsive displaying characteristics of functional anergy.	Dissolution of Fibrin Clot	GO:0001666;response to hypoxia;IEA|GO:0006508;proteolysis;TAS|GO:0006935;chemotaxis;TAS|GO:0007165;signal transduction;TAS|GO:0007596;blood coagulation;IEA|GO:0007599;hemostasis;IEA|GO:0010469;regulation of receptor activity;IDA|GO:0014909;smooth muscle cell migration;IEA|GO:0014910;regulation of smooth muscle cell migration;IDA|GO:0030335;positive regulation of cell migration;IDA|GO:0031639;plasminogen activation;IDA|GO:0033628;regulation of cell adhesion mediated by integrin;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042730;fibrinolysis;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0061041;regulation of wound healing;IC|GO:2000097;regulation of smooth muscle cell-matrix adhesion;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS	GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLAU	https://www.uniprot.org/uniprot/P00749	https://hpo.jax.org/app/browse/search?q=PLAU&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=191840	http://www.informatics.jax.org/searchtool/Search.do?query=PLAU&submit=Quick%0D%5461ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLAU	rs2227564	0.775359	0.8387	0.7546	0.33	4	12	exonic	exonic	exonic	PLAU	PLAU	ENSG00000122861	nonsynonymous SNV	nonsynonymous SNV	unknown	PLAU:NM_002658:exon6:c.T422C:p.L141P,PLAU:NM_001145031:exon5:c.T371C:p.L124P,	PLAU:uc009xrq.1:exon4:c.T314C:p.L105P,PLAU:uc001jwc.3:exon6:c.T422C:p.L141P,PLAU:uc010qkw.2:exon5:c.T371C:p.L124P,PLAU:uc001jwa.3:exon6:c.T422C:p.L141P,PLAU:uc010qkx.2:exon5:c.T164C:p.L55P,	UNKNOWN	Het;T>C	1131;40|51	Het;T>C	884;35|40	Hom;T>C	2541;0|99
N	N	-	10	88717154	88717154	C	T	snp	nonsynonymous SNV	G145A	G49S	aliphatic,neutral	polar,hydrophilic,neutral	MMRN2	Mmrn2	ENSG00000173269	multimerin 2	chr10:88695297-88729238	This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012]		 		GO:0001525;angiogenesis;IEA|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;IDA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MMRN2			https://www.ncbi.nlm.nih.gov/omim/?term=608925	http://www.informatics.jax.org/searchtool/Search.do?query=MMRN2&submit=Quick%0D%13328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMRN2	rs3750823	0.423522	0.3855	0.4495	0.08	1	13	exonic	exonic	exonic	MMRN2	MMRN2	ENSG00000173269	nonsynonymous SNV	nonsynonymous SNV	unknown	MMRN2:NM_024756:exon1:c.G145A:p.G49S,	MMRN2:uc009xtb.2:exon1:c.G145A:p.G49S,MMRN2:uc001kea.3:exon1:c.G145A:p.G49S,	UNKNOWN	Het;C>T	693;70|36	Ref		Hom;C>T	1749;0|62
N	N	-	10	91497631	91497631	T	A	snp	nonsynonymous SNV	T2913A	D971E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs1062465	0.353834	0.3101	0.2879	0.31	4	13	exonic	exonic	exonic	KIF20B	KIF20B	ENSG00000138182	nonsynonymous SNV	nonsynonymous SNV	unknown	KIF20B:NM_001284259:exon20:c.T3033A:p.D1011E,KIF20B:NM_016195:exon20:c.T2913A:p.D971E,	KIF20B:uc001kgr.1:exon20:c.T2913A:p.D971E,KIF20B:uc001kgs.1:exon20:c.T3033A:p.D1011E,KIF20B:uc001kgt.1:exon7:c.T666A:p.D222E,	UNKNOWN	Het;T>A	1040;76|54	Ref		Hom;T>A	3412;6|132
N	N	-	10	91497902	91497902	C	CTAAAAG	indel	nonframeshift substitution	3304_3304delinsCTAAAAG	 	 	 	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs144593231	0.356629	0.3027	0.2866	1	0	0	exonic	exonic	exonic	KIF20B	KIF20B	ENSG00000138182	nonframeshift substitution	nonframeshift substitution	unknown	KIF20B:NM_001284259:exon20:c.3304_3304delinsCTAAAAG,KIF20B:NM_016195:exon20:c.3184_3184delinsCTAAAAG,	KIF20B:uc001kgr.1:exon20:c.3184_3184delinsCTAAAAG,KIF20B:uc001kgs.1:exon20:c.3304_3304delinsCTAAAAG,KIF20B:uc001kgt.1:exon7:c.937_937delinsCTAAAAG,	UNKNOWN	Het;+TAAAAG	811;39|23	Ref		Hom;+TAAAAG	3912;0|89
N	N	-	10	91498254	91498254	A	G	snp	nonsynonymous SNV	A3536G	N1179S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	KIF20B	Kif20b	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B	rs1886997	0.357029	0.3056	0.2883	0.15	2	13	exonic	exonic	exonic	KIF20B	KIF20B	ENSG00000138182	nonsynonymous SNV	nonsynonymous SNV	unknown	KIF20B:NM_001284259:exon20:c.A3656G:p.N1219S,KIF20B:NM_016195:exon20:c.A3536G:p.N1179S,	KIF20B:uc001kgr.1:exon20:c.A3536G:p.N1179S,KIF20B:uc001kgs.1:exon20:c.A3656G:p.N1219S,KIF20B:uc001kgt.1:exon7:c.A1289G:p.N430S,	UNKNOWN	Het;A>G	661;22|27	Ref		Hom;A>G	2145;1|72
N	N	-	10	95454681	95454681	G	C	snp	nonsynonymous SNV	C233G	T78R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	FRA10AC1	Fra10ac1	ENSG00000148690	FRA10A associated CGG repeat 1	chr10:95427640-95462329	The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]	Body Height; Alzheimer's disease 	 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1	https://www.uniprot.org/uniprot/Q70Z53		https://www.ncbi.nlm.nih.gov/omim/?term=608866	http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1	rs2275438	0.360623	0.3898	0.4728	0.15	2	13	exonic	exonic	exonic	FRA10AC1	FRA10AC1	ENSG00000148690	nonsynonymous SNV	nonsynonymous SNV	unknown	FRA10AC1:NM_145246:exon5:c.C233G:p.T78R,	FRA10AC1:uc001kjb.1:exon4:c.C233G:p.T78R,FRA10AC1:uc009xuh.1:exon5:c.C236G:p.T79R,FRA10AC1:uc001kiz.2:exon5:c.C233G:p.T78R,	UNKNOWN	Het;G>C	752;44|35	Het;G>C	696;48|36	Hom;G>C	2418;0|86
N	N	-	10	98469693	98469693	C	T	snp	nonsynonymous SNV	G61A	E21K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	PIK3AP1	Pik3ap1	ENSG00000155629	phosphoinositide-3-kinase adaptor protein 1	chr10:98353069-98480271		prostate cancer; Alzheimer's disease 	Mice homozygous for disruptions in this gene have abnormalities in B cell maturation.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;ISS|GO:0034134;toll-like receptor 2 signaling pathway;ISS|GO:0034142;toll-like receptor 4 signaling pathway;ISS|GO:0034154;toll-like receptor 7 signaling pathway;ISS|GO:0034162;toll-like receptor 9 signaling pathway;ISS|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0050727;regulation of inflammatory response;ISS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0036312;phosphatidylinositol 3-kinase regulatory subunit binding;ISS|GO:0042802;identical protein binding;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PIK3AP1	https://www.uniprot.org/uniprot/Q6ZUJ8		https://www.ncbi.nlm.nih.gov/omim/?term=607942	http://www.informatics.jax.org/searchtool/Search.do?query=PIK3AP1&submit=Quick%0D%9884ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3AP1	rs17112076	0.125399	0.1289	0.1584	0.08	1	13	exonic	exonic	exonic	PIK3AP1	PIK3AP1	ENSG00000155629	nonsynonymous SNV	nonsynonymous SNV	unknown	PIK3AP1:NM_152309:exon2:c.G61A:p.E21K,	PIK3AP1:uc001kmq.3:exon2:c.G61A:p.E21K,	UNKNOWN	Het;C>T	1630;89|75	Ref		Hom;C>T	3993;0|150
N	N	-	10	99439541	99439541	G	C	snp	nonsynonymous SNV	C122G	A41G	aliphatic,hydrophobic,neutral	aliphatic,neutral	AVPI1	Avpi1	ENSG00000119986	arginine vasopressin induced 1	chr10:99437181-99447080		Blood Pressure; Alzheimer's disease 	 		GO:0000187;activation of MAPK activity;IEA|GO:0007049;cell cycle;IEA		GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AVPI1	https://www.uniprot.org/uniprot/Q5T686			http://www.informatics.jax.org/searchtool/Search.do?query=AVPI1&submit=Quick%0D%5151ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AVPI1	rs2275047	0.508187	0.4809	0.4389	0.25	3	12	exonic	exonic	exonic	AVPI1	AVPI1	ENSG00000119986	nonsynonymous SNV	nonsynonymous SNV	unknown	AVPI1:NM_021732:exon2:c.C122G:p.A41G,	AVPI1:uc001koi.2:exon3:c.C122G:p.A41G,AVPI1:uc001koh.1:exon2:c.C122G:p.A41G,	UNKNOWN	Het;G>C	2340;85|97	Het;G>C	1705;78|77	Hom;G>C	4026;1|135
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	12315186	12315186	G	A	snp	nonsynonymous SNV	G208A	V70I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MICALCL	Micalcl	ENSG00000133808	MICAL C-terminal like	chr11:12297627-12380691		Tobacco Use Disorder; Electrocardiography; Alcoholism	 		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008150;biological_process;ND|GO:0030154;cell differentiation;IEA	GO:0005737;cytoplasm;IEA	GO:0051019;mitogen-activated protein kinase binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/MICALCL	https://www.uniprot.org/uniprot/Q6ZW33		https://www.ncbi.nlm.nih.gov/omim/?term=612355	http://www.informatics.jax.org/searchtool/Search.do?query=MICALCL&submit=Quick%0D%6873ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MICALCL	rs10741578	0.533746	0.4243	0.4419	0.08	1	13	exonic	exonic	exonic	MICALCL	MICALCL	ENSG00000133808	nonsynonymous SNV	nonsynonymous SNV	unknown	MICALCL:NM_032867:exon3:c.G208A:p.V70I,	MICALCL:uc001mkg.1:exon3:c.G208A:p.V70I,	UNKNOWN	Het;G>A	1845;91|81	Het;G>A	1541;83|76	Hom;G>A	4723;0|175
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	12315915	12315915	A	G	snp	nonsynonymous SNV	A937G	S313G	polar,hydrophilic,neutral	aliphatic,neutral	MICALCL	Micalcl	ENSG00000133808	MICAL C-terminal like	chr11:12297627-12380691		Tobacco Use Disorder; Electrocardiography; Alcoholism	 		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008150;biological_process;ND|GO:0030154;cell differentiation;IEA	GO:0005737;cytoplasm;IEA	GO:0051019;mitogen-activated protein kinase binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/MICALCL	https://www.uniprot.org/uniprot/Q6ZW33		https://www.ncbi.nlm.nih.gov/omim/?term=612355	http://www.informatics.jax.org/searchtool/Search.do?query=MICALCL&submit=Quick%0D%6873ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MICALCL	rs1493954	0.53095	0.4030	0.4160	0.38	5	13	exonic	exonic	exonic	MICALCL	MICALCL	ENSG00000133808	nonsynonymous SNV	nonsynonymous SNV	unknown	MICALCL:NM_032867:exon3:c.A937G:p.S313G,	MICALCL:uc001mkg.1:exon3:c.A937G:p.S313G,	UNKNOWN	Het;A>G	2130;96|89	Het;A>G	1517;105|69	Hom;A>G	4194;0|136
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	12316344	12316344	G	GCTC	indel	nonframeshift substitution	1366_1366delinsGCTC	 	 	 	MICALCL	Micalcl	ENSG00000133808	MICAL C-terminal like	chr11:12297627-12380691		Tobacco Use Disorder; Electrocardiography; Alcoholism	 		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008150;biological_process;ND|GO:0030154;cell differentiation;IEA	GO:0005737;cytoplasm;IEA	GO:0051019;mitogen-activated protein kinase binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/MICALCL	https://www.uniprot.org/uniprot/Q6ZW33		https://www.ncbi.nlm.nih.gov/omim/?term=612355	http://www.informatics.jax.org/searchtool/Search.do?query=MICALCL&submit=Quick%0D%6873ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MICALCL	rs767104379	0	0.1585	0.0034	1	0	0	exonic	exonic	exonic	MICALCL	MICALCL	ENSG00000133808	nonframeshift substitution	nonframeshift substitution	unknown	MICALCL:NM_032867:exon3:c.1366_1366delinsGCTC,	MICALCL:uc001mkg.1:exon3:c.1366_1366delinsGCTC,	UNKNOWN	Het;+CTC	263;11|9	Het;+CTC	131;15|6	Hom;+CTC	607;2|16
N	N	-	11	123600475	123600475	A	G	snp	nonsynonymous SNV	T461C	V154A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF202	Zfp202	ENSG00000166261	zinc finger protein 202	chr11:123594885-123612383		Atherosclerosis|Myocardial Ischemia; cholesterol, HDL; response to antipsychotic therapy (extrapyramidal side effects); Type 2 Diabetes| edema | rosiglitazone; myocardial infarct; heart disease, ischemic; cerebrovascular disease, ischemic; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Coronary Disease; Stomach Neoplasms; null; Diabetic Nephropathies	 	Generic Transcription Pathway	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006629;lipid metabolic process;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF202			https://www.ncbi.nlm.nih.gov/omim/?term=603430	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF202&submit=Quick%0D%11741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF202	rs1144507	0.665335	0.7154	0.6885	0.08	1	13	exonic	exonic	exonic	ZNF202	ZNF202	ENSG00000166261	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF202:NM_001301780:exon3:c.T461C:p.V154A,ZNF202:NM_003455:exon5:c.T461C:p.V154A,ZNF202:NM_001301779:exon4:c.T461C:p.V154A,	ZNF202:uc001pzd.1:exon5:c.T461C:p.V154A,ZNF202:uc001pzf.1:exon3:c.T461C:p.V154A,ZNF202:uc001pze.1:exon4:c.T461C:p.V154A,	UNKNOWN	Het;A>G	983;61|46	Het;A>G	688;40|34	Hom;A>G	2593;0|91
N	N	-	11	124493199	124493199	C	A	snp	nonsynonymous SNV	C220A	P74T	hydrophobic,neutral	polar,hydrophilic,neutral	TBRG1	Tbrg1	ENSG00000154144	transforming growth factor beta regulator 1	chr11:124492732-124505287			Mice homozygous for a hypomorphic allele exhibit increased embryonic survival and increased tumor incidence including B cell lymphoma.		GO:0006260;DNA replication;IMP|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0008285;negative regulation of cell proliferation;IMP|GO:0032066;nucleolus to nucleoplasm transport;IDA|GO:0050821;protein stabilization;IMP	GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TBRG1	https://www.uniprot.org/uniprot/Q3YBR2		https://www.ncbi.nlm.nih.gov/omim/?term=610614	http://www.informatics.jax.org/searchtool/Search.do?query=TBRG1&submit=Quick%0D%9734ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBRG1	rs678132	0.165935	0	0.1633	1	0	0	intronic	exonic	intronic	TBRG1	TBRG1	ENSG00000154144	Na	nonsynonymous SNV	Na	Na	TBRG1:uc001qai.2:exon1:c.C220A:p.P74T,	Na	Het;C>A	237;17|13	Ref		Hom;C>A	569;0|19
N	N	-	11	125871715	125871715	G	A	snp	nonsynonymous SNV	C2057T	A686V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CDON	Cdon	ENSG00000064309	cell adhesion associated, oncogene regulated	chr11:125825691-125933230	This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]	Tobacco Use Disorder	Homozygous null mice display facial defects characteristic of microform holoprosencephaly, are runted, and are prone to death prior to weaning.	Activation of SMO	GO:0001708;cell fate specification;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0007155;cell adhesion;TAS|GO:0007224;smoothened signaling pathway;IEA|GO:0007520;myoblast fusion;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010172;embryonic body morphogenesis;IEA|GO:0014816;skeletal muscle satellite cell differentiation;IEA|GO:0021987;cerebral cortex development;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043497;regulation of protein heterodimerization activity;IEA|GO:0045663;positive regulation of myoblast differentiation;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0048643;positive regulation of skeletal muscle tissue development;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060059;embryonic retina morphogenesis in camera-type eye;IEA|GO:2000179;positive regulation of neural precursor cell proliferation;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDON	https://www.uniprot.org/uniprot/Q4KMG0	https://hpo.jax.org/app/browse/search?q=CDON&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608707	http://www.informatics.jax.org/searchtool/Search.do?query=CDON&submit=Quick%0D%1127ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDON	rs12274923	0.111222	0.1618	0.1631	0.38	5	13	exonic	exonic	exonic	CDON	CDON	ENSG00000064309	nonsynonymous SNV	nonsynonymous SNV	unknown	CDON:NM_016952:exon11:c.C2057T:p.A686V,CDON:NM_001243597:exon11:c.C2057T:p.A686V,	CDON:uc009zbw.3:exon11:c.C2057T:p.A686V,CDON:uc001qdc.4:exon11:c.C2057T:p.A686V,CDON:uc001qdb.4:exon2:c.C188T:p.A63V,	UNKNOWN	Het;G>A	400;14|19	Het;G>A	449;14|18	Hom;G>A	765;0|26
N	N	-	11	133714522	133714522	G	A	snp	nonsynonymous SNV	C149T	A50V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SPATA19	Spata19	ENSG00000166118	spermatogenesis associated 19	chr11:133710526-133715433		Creatinine	 		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0016020;membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SPATA19			https://www.ncbi.nlm.nih.gov/omim/?term=609805	http://www.informatics.jax.org/searchtool/Search.do?query=SPATA19&submit=Quick%0D%11696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA19	rs2282602	0.339457	0.3045	0.3825	0.62	8	13	exonic	exonic	exonic	SPATA19	SPATA19	ENSG00000166118	nonsynonymous SNV	nonsynonymous SNV	unknown	SPATA19:NM_174927:exon3:c.C149T:p.A50V,SPATA19:NM_001291992:exon3:c.C149T:p.A50V,	SPATA19:uc001qgv.1:exon3:c.C149T:p.A50V,	UNKNOWN	Het;G>A	983;98|55	Ref		Hom;G>A	3703;2|143
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	17352477	17352480	TACA	T	indel	nonframeshift substitution	1202_1205T	 	 	 	NUCB2	Nucb2	ENSG00000070081	nucleobindin 2	chr11:17229700-17371521	This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011]	Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic	Homozygous mutation of this gene results in decreased heart rate and increased serum alkaline phosphatase levels.			GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NUCB2	https://www.uniprot.org/uniprot/A0A087WSV8		https://www.ncbi.nlm.nih.gov/omim/?term=608020	http://www.informatics.jax.org/searchtool/Search.do?query=NUCB2&submit=Quick%0D%1342ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUCB2	rs3842269	0.253594	0.2299	0.2574	1	0	0	exonic	exonic	exonic	NUCB2	NUCB2	ENSG00000070081	nonframeshift substitution	nonframeshift substitution	unknown	NUCB2:NM_005013:exon13:c.1202_1205T,	NUCB2:uc009ygz.3:exon10:c.1112_1115T,NUCB2:uc001mmw.3:exon13:c.1202_1205T,	UNKNOWN	Het;-ACA	1297;45|35	Het;-ACA	1357;25|35	Hom;-ACA	2708;0|61
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	17408630	17408630	C	T	snp	nonsynonymous SNV	G1009A	V337I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	KCNJ11	Kcnj11	ENSG00000187486	potassium voltage-gated channel subfamily J member 11	chr11:17407406-17410878	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]	type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; sulfonylurea failure, secondary; Diabetes Mellitus|Diabetes Mellitus, Type 2|; myocardial infarct; coronary heart disease; diabetes, type 2 insulin; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; glucose tolerance; diabetes, type 1; Alzheimer's disease ; diabetes, type 1 ; blood pressure, arterial hypertension; insulin; glucose; diabetes, type 2; insulin; Diabetes Mellitus; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; Diabetes Mellitus, Type 2; Calcium; Type 2 diabetes|reduced prostate cancer risk; Type 2 diabetes; Coronary Disease; Kidney Failure, Chronic; atherosclerosis; Persistent Hyperinsulinemia Hypoglycemia of Infancy; impaired glucagon suppression; null; obesity|BMI; Calcinosis|Coronary Artery Disease|Diabetes mellitus; impaired exercise stress response; Diabetes Mellitus|; glucose homeostasis; diabetes; diabetes, gestational; Diabetes Mellitus, Type 2|Polycystic Ovary Syndrome; Type 2 Diabetes| edema | rosiglitazone; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Insulin Resistance; insulin release and insulin sensitivity; Diabetes Mellitus, Type 1; diabetes, type 2 hypertension; familial hyperinsulinism.; hypoglycemia awareness; Hypertension|Ventricular Remodeling; diabetes, type 2; diabetes, type 1; hyperglycemia; androgen polycystic ovary syndrome; obesity; diabetes, type 2 | diabetes, type 1; metabolic syndrome; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation	Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death.	Defective ABCC8 can cause hypoglycemias and hyperglycemias	GO:0002931;response to ischemia;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0010107;potassium ion import;IBA|GO:0032355;response to estradiol;IEA|GO:0033198;response to ATP;IDA|GO:0033574;response to testosterone;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042493;response to drug;IMP|GO:0046676;negative regulation of insulin secretion;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IMP|GO:0055085;transmembrane transport;TAS|GO:0071316;cellular response to nicotine;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0098655;cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:1905965;positive regulation of protein targeting to plasma membrane;IEA|GO:2001259;positive regulation of cation channel activity;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IDA|GO:0014704;intercalated disc;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030315;T-tubule;ISS|GO:0030673;axolemma;IEA|GO:0042383;sarcolemma;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070852;cell body fiber;IEA	GO:0005242;inward rectifier potassium channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005524;ATP binding;TAS|GO:0008022;protein C-terminus binding;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;IBA|GO:0030506;ankyrin binding;IPI|GO:0030955;potassium ion binding;TAS|GO:0031072;heat shock protein binding;IEA|GO:0044325;ion channel binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNJ11		https://hpo.jax.org/app/browse/search?q=KCNJ11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600937	http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ11&submit=Quick%0D%15827ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ11	rs5215	0.730631	0.7320	0.6448	0.25	3	12	exonic	exonic	exonic	KCNJ11	KCNJ11	ENSG00000187486	nonsynonymous SNV	nonsynonymous SNV	unknown	KCNJ11:NM_001166290:exon2:c.G748A:p.V250I,KCNJ11:NM_000525:exon1:c.G1009A:p.V337I,	KCNJ11:uc001mna.3:exon1:c.G1009A:p.V337I,KCNJ11:uc001mnb.4:exon2:c.G748A:p.V250I,	UNKNOWN	Het;C>T	2522;92|110	Het;C>T	2055;97|89	Hom;C>T	4462;0|157
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	17409572	17409572	T	C	snp	nonsynonymous SNV	A67G	K23E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	KCNJ11	Kcnj11	ENSG00000187486	potassium voltage-gated channel subfamily J member 11	chr11:17407406-17410878	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]	type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; sulfonylurea failure, secondary; Diabetes Mellitus|Diabetes Mellitus, Type 2|; myocardial infarct; coronary heart disease; diabetes, type 2 insulin; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; glucose tolerance; diabetes, type 1; Alzheimer's disease ; diabetes, type 1 ; blood pressure, arterial hypertension; insulin; glucose; diabetes, type 2; insulin; Diabetes Mellitus; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; Diabetes Mellitus, Type 2; Calcium; Type 2 diabetes|reduced prostate cancer risk; Type 2 diabetes; Coronary Disease; Kidney Failure, Chronic; atherosclerosis; Persistent Hyperinsulinemia Hypoglycemia of Infancy; impaired glucagon suppression; null; obesity|BMI; Calcinosis|Coronary Artery Disease|Diabetes mellitus; impaired exercise stress response; Diabetes Mellitus|; glucose homeostasis; diabetes; diabetes, gestational; Diabetes Mellitus, Type 2|Polycystic Ovary Syndrome; Type 2 Diabetes| edema | rosiglitazone; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Insulin Resistance; insulin release and insulin sensitivity; Diabetes Mellitus, Type 1; diabetes, type 2 hypertension; familial hyperinsulinism.; hypoglycemia awareness; Hypertension|Ventricular Remodeling; diabetes, type 2; diabetes, type 1; hyperglycemia; androgen polycystic ovary syndrome; obesity; diabetes, type 2 | diabetes, type 1; metabolic syndrome; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation	Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death.	Defective ABCC8 can cause hypoglycemias and hyperglycemias	GO:0002931;response to ischemia;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0010107;potassium ion import;IBA|GO:0032355;response to estradiol;IEA|GO:0033198;response to ATP;IDA|GO:0033574;response to testosterone;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042493;response to drug;IMP|GO:0046676;negative regulation of insulin secretion;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IMP|GO:0055085;transmembrane transport;TAS|GO:0071316;cellular response to nicotine;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0098655;cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:1905965;positive regulation of protein targeting to plasma membrane;IEA|GO:2001259;positive regulation of cation channel activity;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IDA|GO:0014704;intercalated disc;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030315;T-tubule;ISS|GO:0030673;axolemma;IEA|GO:0042383;sarcolemma;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070852;cell body fiber;IEA	GO:0005242;inward rectifier potassium channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005524;ATP binding;TAS|GO:0008022;protein C-terminus binding;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;IBA|GO:0030506;ankyrin binding;IPI|GO:0030955;potassium ion binding;TAS|GO:0031072;heat shock protein binding;IEA|GO:0044325;ion channel binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KCNJ11		https://hpo.jax.org/app/browse/search?q=KCNJ11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600937	http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ11&submit=Quick%0D%15827ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ11	rs5219	0.737021	0.7381	0.6471	0.25	3	12	exonic	exonic	exonic	KCNJ11	KCNJ11	ENSG00000187486	nonsynonymous SNV	nonsynonymous SNV	unknown	KCNJ11:NM_000525:exon1:c.A67G:p.K23E,	KCNJ11:uc001mna.3:exon1:c.A67G:p.K23E,	UNKNOWN	Het;T>C	1928;118|88	Het;T>C	2211;89|100	Hom;T>C	4670;1|174
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	17418477	17418477	C	A	snp	nonsynonymous SNV	G4105T	A1369S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ABCC8	Abcc8	ENSG00000006071	ATP binding cassette subfamily C member 8	chr11:17414432-17498449	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]	Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; BMI- Edema rosiglitazone or pioglitazone; hyperglycemia insulin; diabetes, gestational; Albumins; beta-cell function body mass cholesterol, HDL diabetic complications stroke; Diabetes Mellitus; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|LDLC levels; Kidney Failure, Chronic; esophageal adenocarcinoma; glucose tolerance; Diabetes Mellitus, Type 1; sulfonylurea or insulin treatment; high insulin concentrations in non-diabetic Mexican Ameri; Diabetes Mellitus, Type 2|Hypoglycemia; Persistent Hyperinsulinemia Hypoglycemia of Infancy; Insulin Resistance; metabolic syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; diabetes, type 2 insulin; Alzheimer's disease ; insulin; diabetes, type 2; drug-related genes ; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; beta-cell function; Type 2 diabetes	Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance.	Defective ABCC8 can cause hypoglycemias and hyperglycemias	GO:0001678;cellular glucose homeostasis;IEA|GO:0006810;transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007165;signal transduction;IEA|GO:0007565;female pregnancy;IEA|GO:0009268;response to pH;IEA|GO:0010043;response to zinc ion;IEA|GO:0010989;negative regulation of low-density lipoprotein particle clearance;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032868;response to insulin;IEA|GO:0042493;response to drug;IBA|GO:0043268;positive regulation of potassium ion transport;IEA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;TAS|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0061855;negative regulation of neuroblast migration;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1900721;positive regulation of uterine smooth muscle relaxation;IEA|GO:1903818;positive regulation of voltage-gated potassium channel activity;IEA|GO:1904469;positive regulation of tumor necrosis factor secretion;IEA|GO:1905605;positive regulation of maintenance of permeability of blood-brain barrier;IEA	GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0042383;sarcolemma;IBA	GO:0000166;nucleotide binding;IEA|GO:0005267;potassium channel activity;IMP|GO:0005524;ATP binding;IEA|GO:0008281;sulfonylurea receptor activity;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019905;syntaxin binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS|GO:0044325;ion channel binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ABCC8	https://www.uniprot.org/uniprot/Q09428	https://hpo.jax.org/app/browse/search?q=ABCC8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600509	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC8&submit=Quick%0D%388ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC8	rs757110	0.726438	0.7386	0.6431	0.15	2	13	exonic	exonic	exonic	ABCC8	ABCC8	ENSG00000006071	nonsynonymous SNV	nonsynonymous SNV	unknown	ABCC8:NM_000352:exon33:c.G4105T:p.A1369S,ABCC8:NM_001287174:exon33:c.G4108T:p.A1370S,	ABCC8:uc001mnc.3:exon33:c.G4105T:p.A1369S,	UNKNOWN	Het;C>A	1492;88|66	Het;C>A	1828;66|85	Hom;C>A	3559;0|129
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	17580175	17580175	A	T	snp	nonsynonymous SNV	A1123T	T375S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	OTOG	Otog	ENSG00000188162	otogelin	chr11:17568920-17668697	The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]	Stroke; Parkinson Disease; Hemoglobins	Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities.		GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA	GO:0005198;structural molecule activity;IEA|GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOG		https://hpo.jax.org/app/browse/search?q=OTOG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604487	http://www.informatics.jax.org/searchtool/Search.do?query=OTOG&submit=Quick%0D%15978ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOG	rs7130190	0.086262	0	0.1203	0.30	3	10	exonic	exonic	exonic	OTOG	OTOG	ENSG00000188162	nonsynonymous SNV	nonsynonymous SNV	unknown	OTOG:NM_001277269:exon9:c.A1123T:p.T375S,OTOG:NM_001292063:exon10:c.A1087T:p.T363S,	OTOG:uc031pzc.1:exon9:c.A1123T:p.T375S,	UNKNOWN	Het;A>T	1826;100|87	Het;A>T	1506;58|71	Hom;A>T	2895;1|110
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	17632306	17632306	C	T	snp	nonsynonymous SNV	C5495T	A1832V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OTOG	Otog	ENSG00000188162	otogelin	chr11:17568920-17668697	The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]	Stroke; Parkinson Disease; Hemoglobins	Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities.		GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA	GO:0005198;structural molecule activity;IEA|GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOG		https://hpo.jax.org/app/browse/search?q=OTOG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604487	http://www.informatics.jax.org/searchtool/Search.do?query=OTOG&submit=Quick%0D%15978ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOG	rs1003490	0.0978435	0	0.1234	0.54	7	13	exonic	exonic	exonic	OTOG	OTOG	ENSG00000188162	nonsynonymous SNV	nonsynonymous SNV	unknown	OTOG:NM_001277269:exon35:c.C5495T:p.A1832V,OTOG:NM_001292063:exon36:c.C5459T:p.A1820V,	OTOG:uc031pzc.1:exon35:c.C5495T:p.A1832V,OTOG:uc001mnh.1:exon12:c.C2513T:p.A838V,	UNKNOWN	Het;C>T	4082;189|179	Het;C>T	2887;125|131	Hom;C>T	7046;6|264
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	17663416	17663416	G	A	snp	nonsynonymous SNV	G8249A	R2750Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	OTOG	Otog	ENSG00000188162	otogelin	chr11:17568920-17668697	The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]	Stroke; Parkinson Disease; Hemoglobins	Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities.		GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA	GO:0005198;structural molecule activity;IEA|GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOG		https://hpo.jax.org/app/browse/search?q=OTOG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604487	http://www.informatics.jax.org/searchtool/Search.do?query=OTOG&submit=Quick%0D%15978ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOG	rs12422210	0.0828674	0	0.1576	0.10	1	10	exonic	exonic	exonic	OTOG	OTOG	ENSG00000188162	nonsynonymous SNV	nonsynonymous SNV	unknown	OTOG:NM_001277269:exon51:c.G8249A:p.R2750Q,OTOG:NM_001292063:exon52:c.G8213A:p.R2738Q,	OTOG:uc031pzc.1:exon51:c.G8249A:p.R2750Q,	UNKNOWN	Het;G>A	2473;94|106	Het;G>A	1258;62|64	Hom;G>A	3085;0|111
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	18159254	18159254	A	G	snp	nonsynonymous SNV	A505G	N169D	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	MRGPRX3	Mrgpra9	ENSG00000179826	MAS related GPR family member X3	chr11:18142502-18160027	This gene encodes a member of the mas-related/sensory neuron specific subfamily of G protein coupled receptors. The encoded protein may be involved in sensory neuron regulation and in the modulation of pain. [provided by RefSeq, Oct 2009]		 		GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MRGPRX3			https://www.ncbi.nlm.nih.gov/omim/?term=607229	http://www.informatics.jax.org/searchtool/Search.do?query=MRGPRX3&submit=Quick%0D%14387ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRGPRX3	rs4274188	0.743011	0.7042	0.7697	0.08	1	13	exonic	exonic	exonic	MRGPRX3	MRGPRX3	ENSG00000179826	nonsynonymous SNV	nonsynonymous SNV	unknown	MRGPRX3:NM_054031:exon3:c.A505G:p.N169D,	MRGPRX3:uc021qek.1:exon1:c.A505G:p.N169D,MRGPRX3:uc001mnu.3:exon3:c.A505G:p.N169D,	UNKNOWN	Het;A>G	2833;112|117	Het;A>G	2314;98|98	Hom;A>G	6042;0|207
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	18735947	18735947	T	C	snp	nonsynonymous SNV	A1675G	M559V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	IGSF22		ENSG00000179057	immunoglobulin superfamily member 22	chr11:18725852-18747777					GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA	GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA	GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IGSF22				http://www.informatics.jax.org/searchtool/Search.do?query=IGSF22&submit=Quick%0D%14282ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF22	rs7125943	0.75619	0.7713	0.7413	0.15	2	13	exonic	exonic	exonic	IGSF22	IGSF22	ENSG00000179057	nonsynonymous SNV	nonsynonymous SNV	unknown	IGSF22:NM_173588:exon13:c.A1675G:p.M559V,	IGSF22:uc009yht.2:exon13:c.A1675G:p.M559V,	UNKNOWN	Het;T>C	2365;126|108	Het;T>C	2296;94|103	Hom;T>C	5588;0|204
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	18737095	18737095	C	T	snp	nonsynonymous SNV	G1415A	R472Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	IGSF22		ENSG00000179057	immunoglobulin superfamily member 22	chr11:18725852-18747777					GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA	GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA	GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IGSF22				http://www.informatics.jax.org/searchtool/Search.do?query=IGSF22&submit=Quick%0D%14282ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF22	rs4424652	0.749401	0.7576	0.7349	0.23	3	13	exonic	exonic	exonic	IGSF22	IGSF22	ENSG00000179057	nonsynonymous SNV	nonsynonymous SNV	unknown	IGSF22:NM_173588:exon11:c.G1415A:p.R472Q,	IGSF22:uc009yht.2:exon11:c.G1415A:p.R472Q,	UNKNOWN	Het;C>T	2319;113|104	Het;C>T	1646;102|79	Hom;C>T	5306;0|198
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	18738281	18738281	C	T	snp	nonsynonymous SNV	G1240A	V414I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	IGSF22		ENSG00000179057	immunoglobulin superfamily member 22	chr11:18725852-18747777					GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA	GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA	GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IGSF22				http://www.informatics.jax.org/searchtool/Search.do?query=IGSF22&submit=Quick%0D%14282ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF22	rs10766494	0.749002	0.7605	0.7349	0.23	3	13	exonic	exonic	exonic	IGSF22	IGSF22	ENSG00000179057	nonsynonymous SNV	nonsynonymous SNV	unknown	IGSF22:NM_173588:exon10:c.G1240A:p.V414I,	IGSF22:uc009yht.2:exon10:c.G1240A:p.V414I,	UNKNOWN	Het;C>T	459;30|21	Het;C>T	496;22|24	Hom;C>T	999;1|36
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	20805286	20805286	G	A	snp	nonsynonymous SNV	G329A	R110Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	NELL1	Nell1	ENSG00000165973	neural EGFL like 1	chr11:20691117-21597227	This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Cholesterol; Exercise Test; Cholesterol, LDL; Calcium; longevity; Iron; Hemoglobins; Crohn Disease|Rectal Fistula; Platelet Count; Neuroblastoma; Type 2 Diabetes| edema | rosiglitazone; Albumins; Anticonvulsants; Amyotrophic Lateral Sclerosis|; Body Mass Index; Vitamin D; Lipoproteins, LDL; Forced Vital Capacity; Tobacco Use Disorder; Parkinson Disease; Crohn Disease; Asthma; Erythrocyte Count; Colitis, Ulcerative|Crohn Disease|; Leukocyte Count; Crohn's disease; Hypertrophy, Left Ventricular	Homozygous mice display perinatal lethality, respiratory failure, impaired development of the intervertebral disks, vertebrae and calvarial bones, increased skull length, and abnormal curvature of the spine.		GO:0007399;nervous system development;TAS|GO:0010468;regulation of gene expression;IDA|GO:0030154;cell differentiation;IEA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0033689;negative regulation of osteoblast proliferation;IDA|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:1903363;negative regulation of cellular protein catabolic process;IDA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NELL1			https://www.ncbi.nlm.nih.gov/omim/?term=602319	http://www.informatics.jax.org/searchtool/Search.do?query=NELL1&submit=Quick%0D%11669ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NELL1	rs8176785	0.637181	0.6024	0.7362	0.38	5	13	exonic	exonic	exonic	NELL1	NELL1	ENSG00000165973	nonsynonymous SNV	nonsynonymous SNV	unknown	NELL1:NM_201551:exon3:c.G245A:p.R82Q,NELL1:NM_001288714:exon3:c.G245A:p.R82Q,NELL1:NM_001288713:exon4:c.G329A:p.R110Q,NELL1:NM_006157:exon3:c.G245A:p.R82Q,	NELL1:uc009yid.3:exon4:c.G329A:p.R110Q,NELL1:uc001mqf.3:exon3:c.G245A:p.R82Q,NELL1:uc001mqe.3:exon3:c.G245A:p.R82Q,NELL1:uc010rdo.2:exon3:c.G245A:p.R82Q,	UNKNOWN	Het;G>A	1503;62|67	Het;G>A	1747;66|80	Hom;G>A	3168;2|116
11_21.322_43.322	Chr11:11392976-25199292	1.269	11	22647366	22647366	G	A	snp	UTR5;UTR3	-10C>T	 	 	 	FANCF	Fancf	ENSG00000183161	Fanconi anemia complementation group F	chr11:22644079-22647387	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. [provided by RefSeq, Jul 2008]	breast cancer ; epithelial ovarian cancer ; breast cancer; Adenocarcinoma|Pancreatic Neoplasms	 	Fanconi Anemia Pathway	GO:0001541;ovarian follicle development;IEA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007283;spermatogenesis;IEA|GO:0008150;biological_process;ND|GO:0016567;protein ubiquitination;IEA|GO:0036297;interstrand cross-link repair;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FANCF		https://hpo.jax.org/app/browse/search?q=FANCF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613897	http://www.informatics.jax.org/searchtool/Search.do?query=FANCF&submit=Quick%0D%14936ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCF	rs3740615	0.113818	0.1466	0.1567	1	0	0	UTR5	UTR5	UTR5;UTR3	FANCF(NM_022725:c.-10C>T)	FANCF(uc001mql.1:c.-10C>T)	ENSG00000183161(ENST00000327470:c.-10C>T);ENSG00000229387(ENST00000428556:c.*247G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	1288;58|54	Het;G>A	1178;55|53	Hom;G>A	2863;0|102
N	N	-	11	27679916	27679916	C	T	snp	nonsynonymous SNV	G196A	V66M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	BDNF	Bdnf	ENSG00000176697	brain derived neurotrophic factor	chr11:27676440-27743605	This gene encodes a member of the nerve growth factor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. Binding of this protein to its cognate receptor promotes neuronal survival in the adult brain. Expression of this gene is reduced in Alzheimer's, Parkinson's, and Huntington's disease patients. This gene may play a role in the regulation of the stress response and in the biology of mood disorders. [provided by RefSeq, Nov 2015]	Alcoholism|Recurrence; Depression|treatment with fluoxetine; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Parkinson's Disease; Ovarian Failure, Premature; Asthma|; Body Weight; Obesity; Cardiovascular Diseases|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Metabolic Syndrome X; personality traits schizophrenia; attention deficit hyperactivity disorder; Epilepsy|Rett Syndrome; brain activity; memory performance.; mood disorder; body mass; Rett Syndrome; Parkinson's disease ; Alzheimer's disease; depression depressive disorder, major; obsessive Compulsive Disorder; BMI; obsessive-compulsive disorder; Alzheimer's Disease; ADHD | attention-deficit hyperactivity disorder; psychosis; ADHD; Alzheimer's disease ; Alzheimer Disease|Amnesia; introversion and neuroticism; Leukoencephalopathies; alcohol consumption; Dyskinesia, Drug-Induced|; Parkinson's disease; cognition; epilepsy; obesity; schizoaffective disorder schizophrenia; autism; antidepressant treatment; hypertension; personality traits; anorexia nervosa; bulimia; cognitive performance; Schizophrenia|brain atrophy; Chromosome Aberrations; Opioid-Related Disorders; Schizophrenia; Migraine Disorders; Dystonic Disorders|; longevity; Type 2 diabetes; cognitive function; motor function; alcohol abuse; personality disorders; mood status; ADHD | attention deficit hyperactivity disorder; Atrophy|Prenatal Exposure Delayed Effects|Substance-Related Disorders; obsessive compulsive disorder; information processing; several psychiatric disorders; Marijuana Abuse|Psychoses, Substance-Induced; Bipolar Disorder; Body Weight|Diabetes Mellitus, Type 2|Obesity; Amnesia, Transient Global; Parkinsons disease; cognitive function schizophrenia; personality; Hyperphagia|Obesity|WAGR Syndrome; Brain Injuries|Wounds, Penetrating; amphetamine response; smoking behavior; depression stroke; cognitive reactivity; methamphetamine abuse; Dyskinesia, Drug-Induced; neuroticism; brain morphology; obesity|Type 2 diabetes; methamphetamine abuse; substance abuse; Alzheimer's disease Parkinson's disease; eating disorders mood disorders schizophrenia substance abuse; Subarachnoid Hemorrhage; alcoholism; schizophrenia; tardive dyskinesia; methamphetamine use; Headache; schizophrenia; bipolar disorder; schizophrenia; schizoaffective disorder; bipolar disorder; anxiety disorder; Huntington's disease; childhood-onset mood disorders; Cerebral Infarction|Memory Disorders|Subarachnoid Hemorrhage; BDNF serum concentrations; serotonin transporter availability; Depression, Postpartum; affective psychoses; Akathisia, Drug-Induced|; Body Mass Index; schizophrenia; depressive disorder, major; bipolar disorder; Heroin Dependence; seizures, febrile; hippocampal volume; personality trait and intelligence; Bone Mineral Density; Mental Retardation; mood disorders; major depressive disorder; Dermatitis, Atopic; Alzheimer's disease; Parkinson's disease; multiple system atrophy; schizophrenia; psychoses; bipolar disorder; reasoning skills; schizophrenia weight gain; suicide; alcohol; bulimia eating disorder; electroconvulsive therapy response; cognitive ability; smoking; Epilepsy|Fragile X Syndrome; response inhibition; Bulimia; Hypercholesterolemia|LDLC levels; mood pain; cognitive function; Body mass index; juvenile endogenous attack-like psychoses; Sleep Apnea, Obstructive; depressive disorder, major; panic disorder; bipolar disorder schizophrenia; Ache, Low Back|Low Back Pain; Myopia; Atrophy|Memory Disorders; social stress ; obesity; attention deficit hyperactivity disorder; anorexia nervosa; bulimia; memory impairment; multiple sclerosis; Tobacco Use Disorder; weight ; Body Weight|Bulimia|Starvation; asthma; cervical dystonia; Angina, Unstable|Coronary Artery Disease; Hypertension; Type 2 Diabetes| edema | rosiglitazone; personality disorders; depression; Spinal Cord Injuries; Brain Injuries; eating disorders; schizophrenia; affective disorder Alzheimer's disease post-traumatic stress disorder schizophrenia substance abuse; epilepsy, temporal lobe; rumination; Weight Gain; Apoplexy|Stroke; memory impairment; psychoses; Alcoholism|; Alzheimer's disease dementia with Lewy bodies; Autism; Alzheimer Disease|Alzheimer's Disease; depressive disorder, major hippocampal volume; anorexia nervosa; response to antidepressants; null; Amphetamine-Related Disorders; Bipolar disorder; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Parkinson's disease; schizotypal traits; Body Weight|Obesity; Disease Progression; Smoking	Homozygotes for targeted null alleles exhibit sensory neuron losses affecting coordination, balance, hearing, taste, and breathing, cerebellar abnormalities, increased sympathetic neuron number, and postnatal lethality. Carriers show mild defects.		GO:0007267;cell-cell signaling;IBA|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;TAS|GO:0007416;synapse assembly;IDA|GO:0010832;negative regulation of myotube differentiation;ISS|GO:0031547;brain-derived neurotrophic factor receptor signaling pathway;TAS|GO:0031550;positive regulation of brain-derived neurotrophic factor receptor signaling pathway;TAS|GO:0043524;negative regulation of neuron apoptotic process;IBA|GO:0048668;collateral sprouting;IDA|GO:0048672;positive regulation of collateral sprouting;IDA|GO:0051965;positive regulation of synapse assembly;IDA|GO:1900122;positive regulation of receptor binding;IDA|GO:2000008;regulation of protein localization to cell surface;TAS	GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;ISS|GO:0005739;mitochondrion;IDA|GO:0016607;nuclear speck;IDA|GO:0031410;cytoplasmic vesicle;IBA|GO:0048471;perinuclear region of cytoplasm;ISS	GO:0005102;receptor binding;IEA|GO:0005169;neurotrophin TRKB receptor binding;IBA|GO:0008083;growth factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/BDNF		https://hpo.jax.org/app/browse/search?q=BDNF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=113505	http://www.informatics.jax.org/searchtool/Search.do?query=BDNF&submit=Quick%0D%13897ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BDNF	rs6265	0.201278	0.1403	0.1937	0.62	8	13	exonic	exonic	exonic	BDNF	BDNF	ENSG00000176697	nonsynonymous SNV	nonsynonymous SNV	unknown	BDNF:NM_001143811:exon4:c.G196A:p.V66M,BDNF:NM_001143810:exon3:c.G442A:p.V148M,BDNF:NM_170733:exon2:c.G196A:p.V66M,BDNF:NM_001143807:exon2:c.G196A:p.V66M,BDNF:NM_001143806:exon2:c.G196A:p.V66M,BDNF:NM_170734:exon2:c.G241A:p.V81M,BDNF:NM_170732:exon2:c.G196A:p.V66M,BDNF:NM_001143813:exon2:c.G196A:p.V66M,BDNF:NM_001143814:exon3:c.G196A:p.V66M,BDNF:NM_001143808:exon2:c.G196A:p.V66M,BDNF:NM_001143812:exon2:c.G196A:p.V66M,BDNF:NM_001143805:exon2:c.G196A:p.V66M,BDNF:NM_170731:exon2:c.G220A:p.V74M,BDNF:NM_001143816:exon2:c.G196A:p.V66M,BDNF:NM_001143809:exon2:c.G283A:p.V95M,BDNF:NM_170735:exon1:c.G196A:p.V66M,BDNF:NM_001709:exon2:c.G196A:p.V66M,	BDNF:uc010rdw.2:exon2:c.G196A:p.V66M,BDNF:uc001mru.3:exon2:c.G196A:p.V66M,BDNF:uc009yjf.3:exon2:c.G283A:p.V95M,BDNF:uc009yjg.3:exon4:c.G196A:p.V66M,BDNF:uc010rdy.2:exon2:c.G196A:p.V66M,BDNF:uc001mrw.4:exon2:c.G196A:p.V66M,BDNF:uc001mrt.3:exon2:c.G241A:p.V81M,BDNF:uc001mrx.3:exon2:c.G196A:p.V66M,BDNF:uc001msa.3:exon2:c.G220A:p.V74M,BDNF:uc001mrz.4:exon2:c.G196A:p.V66M,BDNF:uc001mrv.3:exon2:c.G196A:p.V66M,BDNF:uc010rdu.2:exon2:c.G196A:p.V66M,BDNF:uc009yjd.3:exon3:c.G196A:p.V66M,BDNF:uc001mry.4:exon2:c.G196A:p.V66M,BDNF:uc010rdx.2:exon2:c.G196A:p.V66M,BDNF:uc021qff.1:exon1:c.G196A:p.V66M,BDNF:uc009yje.3:exon3:c.G442A:p.V148M,	UNKNOWN	Het;C>T	2959;140|122	Het;C>T	2731;75|117	Hom;C>T	6035;4|224
N	N	-	11	2920666	2920666	C	T	snp	nonsynonymous SNV	G266A	G89D	aliphatic,neutral	polar,hydrophilic,charged(-)	SLC22A18AS		ENSG00000254827	solute carrier family 22 member 18 antisense	chr11:2909010-2924970		Neuroblastoma			GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/SLC22A18AS			https://www.ncbi.nlm.nih.gov/omim/?term=603240	http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A18AS&submit=Quick%0D%20086ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A18AS	rs365605	0.613019	0.6792	0.6268	1	0	0	exonic	exonic	exonic	SLC22A18AS	SLC22A18AS	ENSG00000254827	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC22A18AS:NM_007105:exon3:c.G266A:p.G89D,	SLC22A18AS:uc001lwv.4:exon3:c.G266A:p.G89D,	UNKNOWN	Het;C>T	701;58|35	Het;C>T	393;53|25	Hom;C>T	1860;0|68
N	N	-	11	3659993	3659993	G	T	snp	nonsynonymous SNV	C851A	T284K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ART5	Art5	ENSG00000167311	ADP-ribosyltransferase 5	chr11:3659733-3663546	The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]		 		GO:0006471;protein ADP-ribosylation;IEA	GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA	GO:0003950;NAD+ ADP-ribosyltransferase activity;IEA|GO:0003953;NAD+ nucleosidase activity;IEA|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ART5			https://www.ncbi.nlm.nih.gov/omim/?term=610625	http://www.informatics.jax.org/searchtool/Search.do?query=ART5&submit=Quick%0D%11993ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ART5	rs2271586	0.299521	0.3085	0.2237	0.08	1	13	exonic	exonic	exonic	ART5	ART5	ENSG00000167311	nonsynonymous SNV	nonsynonymous SNV	unknown	ART5:NM_053017:exon4:c.C851A:p.T284K,ART5:NM_001079536:exon5:c.C851A:p.T284K,	ART5:uc001lyb.1:exon4:c.C851A:p.T284K,ART5:uc001lyc.1:exon5:c.C851A:p.T284K,	UNKNOWN	Het;G>T	1457;95|62	Het;G>T	1838;79|80	Hom;G>T	4392;2|152
N	N	-	11	66105194	66105194	G	A	snp	nonsynonymous SNV	C818T	A273V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	BRMS1	Brms1	ENSG00000174744	breast cancer metastasis suppressor 1	chr11:66104804-66112596	This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]		 	HDACs deacetylate histones	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0009987;cellular process;IEA|GO:0016575;histone deacetylation;IBA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0090312;positive regulation of protein deacetylation;IDA|GO:2000210;positive regulation of anoikis;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0070822;Sin3-type complex;IBA	GO:0004407;histone deacetylase activity;TAS|GO:0005515;protein binding;IPI|GO:0042826;histone deacetylase binding;IBA|GO:0051059;NF-kappaB binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BRMS1			https://www.ncbi.nlm.nih.gov/omim/?term=606259	http://www.informatics.jax.org/searchtool/Search.do?query=BRMS1&submit=Quick%0D%13569ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BRMS1	rs1052566	0.266773	0.2248	0.3557	0.09	1	11	exonic	exonic	exonic	BRMS1	BRMS1	ENSG00000174744	nonsynonymous SNV	nonsynonymous SNV	unknown	BRMS1:NM_001024957:exon10:c.C818T:p.A273V,	BRMS1:uc001oho.1:exon10:c.C818T:p.A273V,	UNKNOWN	Het;G>A	707;68|38	Het;G>A	1047;54|48	Hom;G>A	1598;0|57
N	N	-	11	8751640	8751640	G	C	snp	nonsynonymous SNV	C1197G	D399E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	ST5	St5	ENSG00000166444	suppression of tumorigenicity 5	chr11:8714898-8932498	This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Brain; Central Nervous System; Blood Flow Velocity; Mental Competency	 	RAB GEFs exchange GTP for GDP on RABs	GO:0043547;positive regulation of GTPase activity;IEA		GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ST5			https://www.ncbi.nlm.nih.gov/omim/?term=140750	http://www.informatics.jax.org/searchtool/Search.do?query=ST5&submit=Quick%0D%11793ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ST5	rs3812762	0.265375	0.2586	0.3119	0.38	5	13	exonic	exonic	exonic	ST5	ST5	ENSG00000166444	nonsynonymous SNV	nonsynonymous SNV	unknown	ST5:NM_005418:exon6:c.C1197G:p.D399E,ST5:NM_213618:exon3:c.C1197G:p.D399E,	ST5:uc001mgv.3:exon6:c.C1197G:p.D399E,ST5:uc001mgw.1:exon7:c.C1197G:p.D399E,ST5:uc001mgt.3:exon3:c.C1197G:p.D399E,	UNKNOWN	Het;G>C	2350;106|102	Het;G>C	2032;95|86	Hom;G>C	4881;5|180
N	N	-	12	104048454	104048454	C	A	snp	nonsynonymous SNV	C1529A	P510H	hydrophobic,neutral	aromatic,polar,hydrophilic,charged(+)	STAB2	Stab2	ENSG00000136011	stabilin 2	chr12:103981051-104160505	This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008]	Calcium; Abdominal Fat; Stroke; F8 protein, human; Tobacco Use Disorder; Coronary Disease	Mice homozygous for knock-out alleles exhibit no gross abnormaities. Mice homozygous for one null allele display elevated serum hyaluronic acid levels and decreased metastasis.	Scavenging by Class H Receptors	GO:0001525;angiogenesis;NAS|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007155;cell adhesion;NAS|GO:0010468;regulation of gene expression;IMP|GO:0030193;regulation of blood coagulation;IMP|GO:0030214;hyaluronan catabolic process;TAS|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS	GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/STAB2	https://www.uniprot.org/uniprot/Q8WWQ8		https://www.ncbi.nlm.nih.gov/omim/?term=608561	http://www.informatics.jax.org/searchtool/Search.do?query=STAB2&submit=Quick%0D%7269ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB2	rs1609860	0.086262	0.0592	0.1003	0.77	10	13	exonic	exonic	exonic	STAB2	STAB2	ENSG00000136011	nonsynonymous SNV	nonsynonymous SNV	unknown	STAB2:NM_017564:exon13:c.C1529A:p.P510H,	STAB2:uc001tjw.3:exon13:c.C1529A:p.P510H,	UNKNOWN	Het;C>A	665;48|33	Het;C>A	1114;75|56	Hom;C>A	3322;0|126
N	N	-	12	109696838	109696838	G	A	snp	nonsynonymous SNV	G6421A	V2141I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ACACB	Acacb	ENSG00000076555	acetyl-CoA carboxylase beta	chr12:109554400-109706031	 Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis.  ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria.  ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis.  There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008]	Hypercholesterolemia; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Hypercholesterolemia|LDLC levels; Bulimia; metabolic syndrome; Insulin Resistance|Metabolic Syndrome X|Obesity, Abdominal; Glucose; Hypercholesterolemia|Hyperlipidemias; Alzheimer's disease ; Type 2 diabetes; BMI- Edema rosiglitazone or pioglitazone	Mice homozygous for a targeted null mutation are viable, fertile and overtly normal but exhibit high levels of fatty acid oxidation, as well as reduced fat accumulation in their adipose tissue and liver, and decreased storage of glycogen in their liver.	Activation of gene expression by SREBF (SREBP)	GO:0006084;acetyl-CoA metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006768;biotin metabolic process;TAS|GO:0006853;carnitine shuttle;TAS|GO:0008152;metabolic process;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010884;positive regulation of lipid storage;IEA|GO:0010906;regulation of glucose metabolic process;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0031667;response to nutrient levels;IEA|GO:0031999;negative regulation of fatty acid beta-oxidation;IEA|GO:0042493;response to drug;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0046322;negative regulation of fatty acid oxidation;IEA|GO:0050995;negative regulation of lipid catabolic process;IEA|GO:0051289;protein homotetramerization;IDA|GO:0060421;positive regulation of heart growth;IEA|GO:0097009;energy homeostasis;IEA|GO:2001295;malonyl-CoA biosynthetic process;IEA	GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003989;acetyl-CoA carboxylase activity;IEA|GO:0004075;biotin carboxylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0009374;biotin binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACACB	https://www.uniprot.org/uniprot/O00763		https://www.ncbi.nlm.nih.gov/omim/?term=601557	http://www.informatics.jax.org/searchtool/Search.do?query=ACACB&submit=Quick%0D%1587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACACB	rs2075260	0.738818	0.7810	0.7891	0.31	4	13	exonic	exonic	exonic	ACACB	ACACB	ENSG00000076555	nonsynonymous SNV	nonsynonymous SNV	unknown	ACACB:NM_001093:exon46:c.G6421A:p.V2141I,	ACACB:uc001toc.3:exon46:c.G6421A:p.V2141I,ACACB:uc001tob.3:exon47:c.G6421A:p.V2141I,ACACB:uc010sxm.2:exon20:c.G2419A:p.V807I,	UNKNOWN	Het;G>A	1654;82|74	Het;G>A	1732;91|81	Hom;G>A	4589;0|172
N	N	-	12	112338539	112338539	T	C	snp	nonsynonymous SNV	T898C	C300R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	ADAM1A																		rs3742000	0.503195	0	0.2535	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	ADAM1A	ADAM1A	ENSG00000229186	Na	nonsynonymous SNV	Na	Na	ADAM1A:uc021rea.1:exon1:c.T898C:p.C300R,	Na	Het;T>C	1610;78|67	Ref		Hom;T>C	3412;0|124
N	N	-	12	112338734	112338734	T	TA	indel	frameshift substitution	1093_1093delinsTA	 	 	 	ADAM1A																		rs3832867	0.224441	0	0.1820	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	ADAM1A	ADAM1A	ENSG00000229186	Na	frameshift substitution	Na	Na	ADAM1A:uc021rea.1:exon1:c.1093_1093delinsTA,	Na	Het;+A	4398;144|143	Ref		Hom;+A	10972;2|298
N	N	-	12	112375990	112375990	A	C	snp	nonsynonymous SNV	T340G	C114G	polar,hydrophobic,neutral	aliphatic,neutral	TMEM116	Tmem116	ENSG00000198270	transmembrane protein 116	chr12:112369086-112450970			 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TMEM116				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM116&submit=Quick%0D%16859ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM116	rs3752630	0.22484	0.2032	0.1842	0.15	2	13	exonic	exonic	exonic	TMEM116	TMEM116	ENSG00000198270	nonsynonymous SNV	nonsynonymous SNV	unknown	TMEM116:NM_138341:exon5:c.T64G:p.C22G,TMEM116:NM_001294314:exon8:c.T64G:p.C22G,TMEM116:NM_001193453:exon5:c.T235G:p.C79G,TMEM116:NM_001193531:exon6:c.T340G:p.C114G,	TMEM116:uc001tti.2:exon6:c.T340G:p.C114G,TMEM116:uc001ttf.2:exon5:c.T64G:p.C22G,TMEM116:uc001ttc.2:exon8:c.T64G:p.C22G,TMEM116:uc001ttd.2:exon6:c.T340G:p.C114G,TMEM116:uc001tte.2:exon5:c.T235G:p.C79G,	UNKNOWN	Het;A>C	292;29|15	Ref		Hom;A>C	2040;0|76
N	N	-	12	113348870	113348870	G	A	snp	nonsynonymous SNV	G484A	G162S	aliphatic,neutral	polar,hydrophilic,neutral	OAS1	Oas1g	ENSG00000089127	2'-5'-oligoadenylate synthetase 1	chr12:113344582-113369990	This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016]	West Nile Fever; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis C, Chronic|Liver Cirrhosis; hepatitis C; multiple sclerosis; diabetes, type 1; ovarian cancer; gamma-Glutamyltransferase; hepatitis B; Dengue Hemorrhagic Fever; severe acute respiratory syndrome; type 1 diabetes; Hepatitis B, Chronic	 	Interferon alpha/beta signaling	GO:0002376;immune system process;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0042593;glucose homeostasis;IMP|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OAS1	https://www.uniprot.org/uniprot/P00973	https://hpo.jax.org/app/browse/search?q=OAS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164350	http://www.informatics.jax.org/searchtool/Search.do?query=OAS1&submit=Quick%0D%2046ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS1	rs1131454	0.473842	0.4574	0.5628	0.08	1	13	exonic	exonic	exonic	OAS1	OAS1	ENSG00000089127	nonsynonymous SNV	nonsynonymous SNV	unknown	OAS1:NM_002534:exon3:c.G484A:p.G162S,OAS1:NM_001032409:exon3:c.G484A:p.G162S,OAS1:NM_016816:exon3:c.G484A:p.G162S,	OAS1:uc001tuc.3:exon3:c.G484A:p.G162S,OAS1:uc009zwf.3:exon3:c.G481A:p.G161S,OAS1:uc001tub.3:exon3:c.G484A:p.G162S,OAS1:uc001tud.3:exon3:c.G484A:p.G162S,OAS1:uc010syn.2:exon3:c.G481A:p.G161S,	UNKNOWN	Het;G>A	604;26|27	Ref		Hom;G>A	2312;0|82
N	N	-	12	113357193	113357193	G	A	snp	splicing	1039-1G>A	 	 	 	OAS1	Oas1g	ENSG00000089127	2'-5'-oligoadenylate synthetase 1	chr12:113344582-113369990	This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016]	West Nile Fever; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis C, Chronic|Liver Cirrhosis; hepatitis C; multiple sclerosis; diabetes, type 1; ovarian cancer; gamma-Glutamyltransferase; hepatitis B; Dengue Hemorrhagic Fever; severe acute respiratory syndrome; type 1 diabetes; Hepatitis B, Chronic	 	Interferon alpha/beta signaling	GO:0002376;immune system process;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0042593;glucose homeostasis;IMP|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OAS1	https://www.uniprot.org/uniprot/P00973	https://hpo.jax.org/app/browse/search?q=OAS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164350	http://www.informatics.jax.org/searchtool/Search.do?query=OAS1&submit=Quick%0D%2046ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS1	rs10774671	0.614417	0.5695	0.6685	0.25	1	4	splicing	splicing	splicing	OAS1(NM_016816:exon6:c.1039-1G>A)	OAS1(uc001tud.3:exon6:c.1039-1G>A)	ENSG00000089127(ENST00000202917:exon6:c.1039-1G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	538;48|26	Ref		Hom;G>A	1572;0|52
N	N	-	12	113357209	113357209	G	A	snp	nonsynonymous SNV	G1054A	A352T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	OAS1	Oas1g	ENSG00000089127	2'-5'-oligoadenylate synthetase 1	chr12:113344582-113369990	This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016]	West Nile Fever; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis C, Chronic|Liver Cirrhosis; hepatitis C; multiple sclerosis; diabetes, type 1; ovarian cancer; gamma-Glutamyltransferase; hepatitis B; Dengue Hemorrhagic Fever; severe acute respiratory syndrome; type 1 diabetes; Hepatitis B, Chronic	 	Interferon alpha/beta signaling	GO:0002376;immune system process;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0042593;glucose homeostasis;IMP|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OAS1	https://www.uniprot.org/uniprot/P00973	https://hpo.jax.org/app/browse/search?q=OAS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164350	http://www.informatics.jax.org/searchtool/Search.do?query=OAS1&submit=Quick%0D%2046ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS1	rs1131476	0.78774	0.7398	0.7177	0.08	1	12	exonic	exonic	exonic	OAS1	OAS1	ENSG00000089127	nonsynonymous SNV	nonsynonymous SNV	unknown	OAS1:NM_016816:exon6:c.G1054A:p.A352T,	OAS1:uc001tud.3:exon6:c.G1054A:p.A352T,	UNKNOWN	Het;G>A	674;53|32	Ref		Hom;G>A	1922;0|68
N	N	-	12	113357237	113357237	G	C	snp	nonsynonymous SNV	G1082C	R361T	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	OAS1	Oas1g	ENSG00000089127	2'-5'-oligoadenylate synthetase 1	chr12:113344582-113369990	This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016]	West Nile Fever; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis C, Chronic|Liver Cirrhosis; hepatitis C; multiple sclerosis; diabetes, type 1; ovarian cancer; gamma-Glutamyltransferase; hepatitis B; Dengue Hemorrhagic Fever; severe acute respiratory syndrome; type 1 diabetes; Hepatitis B, Chronic	 	Interferon alpha/beta signaling	GO:0002376;immune system process;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0042593;glucose homeostasis;IMP|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OAS1	https://www.uniprot.org/uniprot/P00973	https://hpo.jax.org/app/browse/search?q=OAS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164350	http://www.informatics.jax.org/searchtool/Search.do?query=OAS1&submit=Quick%0D%2046ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS1	rs1051042	0.787141	0.7397	0.7156	0.08	1	12	exonic	exonic	exonic	OAS1	OAS1	ENSG00000089127	nonsynonymous SNV	nonsynonymous SNV	unknown	OAS1:NM_016816:exon6:c.G1082C:p.R361T,	OAS1:uc001tud.3:exon6:c.G1082C:p.R361T,	UNKNOWN	Het;G>C	950;77|46	Ref		Hom;G>C	2989;0|106
N	N	-	12	113357442	113357442	G	A	snp	nonsynonymous SNV	G1189A	G397R	aliphatic,neutral	polar,hydrophilic,charged(+)	OAS1	Oas1g	ENSG00000089127	2'-5'-oligoadenylate synthetase 1	chr12:113344582-113369990	This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016]	West Nile Fever; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis C, Chronic|Liver Cirrhosis; hepatitis C; multiple sclerosis; diabetes, type 1; ovarian cancer; gamma-Glutamyltransferase; hepatitis B; Dengue Hemorrhagic Fever; severe acute respiratory syndrome; type 1 diabetes; Hepatitis B, Chronic	 	Interferon alpha/beta signaling	GO:0002376;immune system process;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0042593;glucose homeostasis;IMP|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OAS1	https://www.uniprot.org/uniprot/P00973	https://hpo.jax.org/app/browse/search?q=OAS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164350	http://www.informatics.jax.org/searchtool/Search.do?query=OAS1&submit=Quick%0D%2046ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS1	rs2660	0.78774	0.7398	0.7334	0.08	1	12	exonic	exonic	exonic	OAS1	OAS1	ENSG00000089127	nonsynonymous SNV	nonsynonymous SNV	unknown	OAS1:NM_001032409:exon6:c.G1189A:p.G397R,	OAS1:uc001tuc.3:exon6:c.G1189A:p.G397R,	UNKNOWN	Het;G>A	849;53|35	Ref		Hom;G>A	2392;0|82
N	N	-	12	113369715	113369716	TA	T	indel	frameshift substitution	1068_1069T	 	 	 	OAS1	Oas1g	ENSG00000089127	2'-5'-oligoadenylate synthetase 1	chr12:113344582-113369990	This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016]	West Nile Fever; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis C, Chronic|Liver Cirrhosis; hepatitis C; multiple sclerosis; diabetes, type 1; ovarian cancer; gamma-Glutamyltransferase; hepatitis B; Dengue Hemorrhagic Fever; severe acute respiratory syndrome; type 1 diabetes; Hepatitis B, Chronic	 	Interferon alpha/beta signaling	GO:0002376;immune system process;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0042593;glucose homeostasis;IMP|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OAS1	https://www.uniprot.org/uniprot/P00973	https://hpo.jax.org/app/browse/search?q=OAS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164350	http://www.informatics.jax.org/searchtool/Search.do?query=OAS1&submit=Quick%0D%2046ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS1	rs11352835	0.783347	0	0.6795	1	0	0	intergenic	exonic	exonic	OAS1(dist=12003),OAS3(dist=6522)	OAS1	ENSG00000089127	Na	frameshift substitution	unknown	Na	OAS1:uc009zwf.3:exon6:c.1068_1069T,	UNKNOWN	Het;-A	1078;40|33	Ref		Hom;-A	2462;0|62
N	N	-	12	113376388	113376388	G	A	snp	nonsynonymous SNV	G53A	R18K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	OAS3	Oas3	ENSG00000111331	2'-5'-oligoadenylate synthetase 3	chr12:113376157-113411054	This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family.  This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L.  This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008]	ovarian cancer; Hepatitis B, Chronic; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Alcohol Drinking; Dengue Hemorrhagic Fever; hepatitis B; Cholesterol, HDL; Multiple Sclerosis, Relapsing-Remitting; diabetes, type 1	 	Interferon alpha/beta signaling	GO:0002376;immune system process;IEA|GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IDA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0060700;regulation of ribonuclease activity;IDA	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;TAS	GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OAS3	https://www.uniprot.org/uniprot/Q9Y6K5		https://www.ncbi.nlm.nih.gov/omim/?term=603351	http://www.informatics.jax.org/searchtool/Search.do?query=OAS3&submit=Quick%0D%4064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS3	rs1859330	0.663139	0.6225	0.6862	0.08	1	12	exonic	exonic	exonic	OAS3	OAS3	ENSG00000111331	nonsynonymous SNV	nonsynonymous SNV	unknown	OAS3:NM_006187:exon1:c.G53A:p.R18K,	OAS3:uc001tue.3:exon1:c.G53A:p.R18K,OAS3:uc001tuf.3:exon1:c.G53A:p.R18K,OAS3:uc001tug.3:exon1:c.G53A:p.R18K,	UNKNOWN	Het;G>A	308;5|13	Ref		Hom;G>A	462;0|20
N	N	-	12	113425154	113425154	C	G	snp	nonsynonymous SNV	C489G	S163R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	OAS2	Oas2	ENSG00000111335	2'-5'-oligoadenylate synthetase 2	chr12:113416200-113449528	This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis B, Chronic; Dengue Hemorrhagic Fever; diabetes, type 1; hepatitis B	In nursing mothers, homozygous knockout (by a point mutation in a critical domain) results in a failure of the alveoli to expand and a failure to lactate.	Interferon alpha/beta signaling	GO:0002376;immune system process;IEA|GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006401;RNA catabolic process;IEA|GO:0006486;protein glycosylation;IDA|GO:0006955;immune response;IEA|GO:0009615;response to virus;TAS|GO:0018377;protein myristoylation;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;TAS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OAS2	https://www.uniprot.org/uniprot/P29728		https://www.ncbi.nlm.nih.gov/omim/?term=603350	http://www.informatics.jax.org/searchtool/Search.do?query=OAS2&submit=Quick%0D%4065ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS2	rs1293767	0.853435	0.7701	0.7738	0.09	1	11	exonic	exonic	exonic	OAS2	OAS2	ENSG00000111335	nonsynonymous SNV	nonsynonymous SNV	unknown	OAS2:NM_001032731:exon2:c.C489G:p.S163R,	OAS2:uc001tuh.3:exon2:c.C489G:p.S163R,	UNKNOWN	Het;C>G	1182;45|49	Ref		Hom;C>G	2298;0|85
N	N	-	12	113448288	113448288	A	G	snp	stoploss	A2159G	X720W	 	aromatic,hydrophobic,neutral	OAS2	Oas2	ENSG00000111335	2'-5'-oligoadenylate synthetase 2	chr12:113416200-113449528	This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]	Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis B, Chronic; Dengue Hemorrhagic Fever; diabetes, type 1; hepatitis B	In nursing mothers, homozygous knockout (by a point mutation in a critical domain) results in a failure of the alveoli to expand and a failure to lactate.	Interferon alpha/beta signaling	GO:0002376;immune system process;IEA|GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006401;RNA catabolic process;IEA|GO:0006486;protein glycosylation;IDA|GO:0006955;immune response;IEA|GO:0009615;response to virus;TAS|GO:0018377;protein myristoylation;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;TAS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OAS2	https://www.uniprot.org/uniprot/P29728		https://www.ncbi.nlm.nih.gov/omim/?term=603350	http://www.informatics.jax.org/searchtool/Search.do?query=OAS2&submit=Quick%0D%4065ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS2	rs15895	0.864417	0.7497	0.7536	0.25	1	4	exonic	exonic	exonic	OAS2	OAS2	ENSG00000111335	stoploss	stoploss	unknown	OAS2:NM_016817:exon11:c.A2159G:p.X720W,	OAS2:uc001tuj.3:exon11:c.A2159G:p.X720W,	UNKNOWN	Het;A>G	1114;48|52	Ref		Hom;A>G	2169;0|80
N	N	-	12	121600253	121600253	T	C	snp	nonsynonymous SNV	T193C	Y65H	aromatic,polar,hydrophobic	aromatic,polar,hydrophilic,charged(+)	P2RX7	P2rx7	ENSG00000089041	purinergic receptor P2X 7	chr12:121570622-121623876	The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]	leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder	Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality.  Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice.	The NLRP3 inflammasome	GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP	GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA	GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/P2RX7	https://www.uniprot.org/uniprot/Q99572		https://www.ncbi.nlm.nih.gov/omim/?term=602566	http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7	rs208294	0.529952	0.6003	0.5243	0.80	8	10	exonic	exonic	exonic	P2RX7	P2RX7	ENSG00000089041	nonsynonymous SNV	nonsynonymous SNV	unknown	P2RX7:NM_002562:exon5:c.T463C:p.Y155H,	P2RX7:uc001tzn.3:exon6:c.T193C:p.Y65H,P2RX7:uc001tzm.3:exon5:c.T463C:p.Y155H,	UNKNOWN	Het;T>C	1500;78|67	Ref		Hom;T>C	3001;3|114
N	N	-	12	122392038	122392038	C	T	snp	nonsynonymous SNV	C1333T	L445F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	WDR66	Wdr66	ENSG00000158023	WD repeat domain 66	chr12:122355768-122441833	This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]	Metabolism; Platelet Count; Hemoglobins; benzene haematotoxicity; mean platelet volume	 		GO:0003341;cilium movement;ISS	GO:0001536;radial spoke stalk;ISS|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005930;axoneme;ISS|GO:0031514;motile cilium;ISS|GO:0042995;cell projection;IEA		http://www.genecards.org/index.php?path=/Search/keyword/WDR66		https://hpo.jax.org/app/browse/search?q=WDR66&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=WDR66&submit=Quick%0D%10160ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR66	rs11043265	0.310503	0.1962	0.1371	0.15	2	13	exonic	exonic	exonic	WDR66	WDR66	ENSG00000158023	nonsynonymous SNV	nonsynonymous SNV	unknown	WDR66:NM_144668:exon10:c.C1333T:p.L445F,WDR66:NM_001178003:exon10:c.C1333T:p.L445F,	WDR66:uc009zxk.3:exon10:c.C1333T:p.L445F,WDR66:uc021rfh.1:exon10:c.C1333T:p.L445F,	UNKNOWN	Het;C>T	510;35|24	Ref		Hom;C>T	1923;0|68
N	N	-	12	122413196	122413196	T	C	snp	nonsynonymous SNV	T2818C	F940L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	WDR66	Wdr66	ENSG00000158023	WD repeat domain 66	chr12:122355768-122441833	This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]	Metabolism; Platelet Count; Hemoglobins; benzene haematotoxicity; mean platelet volume	 		GO:0003341;cilium movement;ISS	GO:0001536;radial spoke stalk;ISS|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005930;axoneme;ISS|GO:0031514;motile cilium;ISS|GO:0042995;cell projection;IEA		http://www.genecards.org/index.php?path=/Search/keyword/WDR66		https://hpo.jax.org/app/browse/search?q=WDR66&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=WDR66&submit=Quick%0D%10160ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR66	rs77422261	0.11262	0.0523	0.0609	0.77	10	13	exonic	exonic	exonic	WDR66	WDR66	ENSG00000158023	nonsynonymous SNV	nonsynonymous SNV	unknown	WDR66:NM_144668:exon18:c.T2818C:p.F940L,	WDR66:uc009zxk.3:exon18:c.T2818C:p.F940L,	UNKNOWN	Het;T>C	627;13|28	Ref		Hom;T>C	1398;0|50
N	N	-	12	122689181	122689181	C	G	snp	nonsynonymous SNV	C16G	P6A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	B3GNT4	B3gnt4	ENSG00000176383	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	chr12:122688090-122693499	This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008]		 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA|GO:0016266;O-glycan processing;TAS|GO:0018146;keratan sulfate biosynthetic process;TAS|GO:0030311;poly-N-acetyllactosamine biosynthetic process;IDA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008378;galactosyltransferase activity;IEA|GO:0008499;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity;TAS|GO:0008532;N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B3GNT4			https://www.ncbi.nlm.nih.gov/omim/?term=605864	http://www.informatics.jax.org/searchtool/Search.do?query=B3GNT4&submit=Quick%0D%13845ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GNT4	rs7136356	0.454872	0.3549	0.3697	0.08	1	13	exonic	exonic	exonic	B3GNT4	B3GNT4	ENSG00000176383	nonsynonymous SNV	nonsynonymous SNV	unknown	B3GNT4:NM_030765:exon2:c.C16G:p.P6A,	B3GNT4:uc001ubx.3:exon2:c.C16G:p.P6A,	UNKNOWN	Het;C>G	623;42|18	Ref		Hom;C>G	2051;0|48
N	N	-	12	122812503	122812503	G	C	snp	nonsynonymous SNV	C3207G	D1069E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	CLIP1	Clip1	ENSG00000130779	CAP-Gly domain containing linker protein 1	chr12:122755979-122907179	The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Tunica Media	Mice homozygous for a targeted allele display reduced male fertility and teratozoospermia.	Mitotic Prometaphase	GO:0000278;mitotic cell cycle;TAS|GO:0001578;microtubule bundle formation;IMP|GO:0006810;transport;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0044861;protein transport into plasma membrane raft;IEA	GO:0000776;kinetochore;TAS|GO:0001726;ruffle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;TAS|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IMP|GO:0005881;cytoplasmic microtubule;IEA|GO:0005882;intermediate filament;TAS|GO:0015630;microtubule cytoskeleton;IMP|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035371;microtubule plus-end;IDA|GO:0042995;cell projection;IEA|GO:0044354;macropinosome;IDA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008270;zinc ion binding;IDA|GO:0015631;tubulin binding;IDA|GO:0042803;protein homodimerization activity;TAS|GO:0046872;metal ion binding;IEA|GO:0051010;microtubule plus-end binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CLIP1	https://www.uniprot.org/uniprot/P30622		https://www.ncbi.nlm.nih.gov/omim/?term=179838	http://www.informatics.jax.org/searchtool/Search.do?query=CLIP1&submit=Quick%0D%6444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLIP1	rs1129167	0.40655	0.4683	0.5625	0.15	2	13	exonic	exonic	exonic	CLIP1	CLIP1	ENSG00000130779	nonsynonymous SNV	nonsynonymous SNV	unknown	CLIP1:NM_001247997:exon17:c.C3240G:p.D1080E,CLIP1:NM_198240:exon15:c.C3102G:p.D1034E,CLIP1:NM_002956:exon16:c.C3207G:p.D1069E,	CLIP1:uc001uch.1:exon16:c.C3207G:p.D1069E,CLIP1:uc001ucj.1:exon12:c.C1965G:p.D655E,CLIP1:uc001uci.1:exon15:c.C3102G:p.D1034E,CLIP1:uc001ucg.2:exon17:c.C3240G:p.D1080E,	UNKNOWN	Het;G>C	543;14|22	Ref		Hom;G>C	1400;0|47
N	N	-	12	123200247	123200247	G	C	snp	nonsynonymous SNV	C1038G	I346M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	HCAR3		ENSG00000255398	hydroxycarboxylic acid receptor 3	chr12:123199303-123201439		Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder	Mice homozygous for targeted mutations that inactivate the gene showed impaired reductions of free fatty acid (FFA) and triglyceride plasma levels in response to nicotinic acid.	G alpha (i) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/HCAR3			https://www.ncbi.nlm.nih.gov/omim/?term=606039	http://www.informatics.jax.org/searchtool/Search.do?query=HCAR3&submit=Quick%0D%20132ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HCAR3	rs1696351	0.895966	0.9437	0.9125	0.09	1	11	exonic	exonic	exonic	HCAR3	HCAR3	ENSG00000255398	nonsynonymous SNV	nonsynonymous SNV	unknown	HCAR3:NM_006018:exon1:c.C1038G:p.I346M,	HCAR3:uc001ucy.4:exon1:c.C1038G:p.I346M,	UNKNOWN	Het;G>C	1677;129|79	Het;G>C	1321;97|66	Hom;G>C	3310;0|119
N	N	-	12	129189941	129189941	G	A	snp	nonsynonymous SNV	G2428A	G810R	aliphatic,neutral	polar,hydrophilic,charged(+)	TMEM132C	Tmem132c	ENSG00000181234	transmembrane protein 132C	chr12:128751948-129192460		Mental Competency; Suicide, Attempted; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Diabetes Mellitus; Alcoholism	 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TMEM132C				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132C&submit=Quick%0D%14596ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132C	rs12424159	0.488219	0.4682	0.5527	0.08	1	13	exonic	exonic	exonic	TMEM132C	TMEM132C	ENSG00000181234	nonsynonymous SNV	nonsynonymous SNV	unknown	TMEM132C:NM_001136103:exon9:c.G2428A:p.G810R,	TMEM132C:uc021rgn.1:exon9:c.G2428A:p.G810R,	UNKNOWN	Het;G>A	1236;75|56	Het;G>A	2138;94|97	Hom;G>A	4088;0|147
N	N	-	12	1590013	1590013	C	T	snp	nonsynonymous SNV	C3218T	P1073L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	ERC1	Erc1	ENSG00000283017	ELKS/RAB6-interacting/CAST family member 1	chr12:1099675-1605099	The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	Tobacco Use Disorder; Alcoholism; Blood Coagulation Factors; Body Weight; Body Mass Index; Waist Circumference	Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females.		GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006810;transport;IEA|GO:0007252;I-kappaB phosphorylation;IDA|GO:0007275;multicellular organism development;NAS|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;ISS|GO:0043066;negative regulation of apoptotic process;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0008385;IkappaB kinase complex;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;TAS|GO:0045202;synapse;ISS|GO:0048786;presynaptic active zone;IEA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030165;PDZ domain binding;ISS|GO:0043522;leucine zipper domain binding;NAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ERC1	https://www.uniprot.org/uniprot/Q8IUD2		https://www.ncbi.nlm.nih.gov/omim/?term=607127	http://www.informatics.jax.org/searchtool/Search.do?query=ERC1&submit=Quick%0D%22669ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERC1	rs11613546	0.289736	0	0.3107	0.22	2	9	exonic	exonic	exonic	ERC1	ERC1	ENSG00000082805	nonsynonymous SNV	nonsynonymous SNV	unknown	ERC1:NM_001301248:exon18:c.C3218T:p.P1073L,	ERC1:uc001qjf.2:exon18:c.C3218T:p.P1073L,	UNKNOWN	Het;C>T	920;56|42	Het;C>T	749;34|36	Hom;C>T	1428;0|55
N	N	-	12	20905250	20905250	C	T	snp	nonsynonymous SNV	C1676T	S559F	polar,hydrophilic,neutral	aromatic,hydrophobic,neutral	SLCO1C1	Slco1c1	ENSG00000139155	solute carrier organic anion transporter family member 1C1	chr12:20848289-20906320	This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]	Body Height; Osteoporosis; height; depression; null	Mice homozygous for a knock-out allele exhibit decreased thyroxine and triiodothyronine levels in the forebrain, in the absence of overt growth, reproductive or neurological abnormalities.	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0070327;thyroid hormone transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;IEA|GO:0015349;thyroid hormone transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLCO1C1	https://www.uniprot.org/uniprot/Q9NYB5		https://www.ncbi.nlm.nih.gov/omim/?term=613389	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1C1&submit=Quick%0D%7837ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1C1	rs6487138	0.469449	0.4416	0.5359	0.58	7	12	exonic	exonic	exonic	SLCO1C1	SLCO1C1	ENSG00000139155	nonsynonymous SNV	nonsynonymous SNV	unknown	SLCO1C1:NM_001145944:exon13:c.C1676T:p.S559F,SLCO1C1:NM_001145946:exon16:c.C2030T:p.S677F,	SLCO1C1:uc010sik.2:exon13:c.C1676T:p.S559F,SLCO1C1:uc010sii.2:exon16:c.C2030T:p.S677F,SLCO1C1:uc009zip.3:exon14:c.C1532T:p.S511F,	UNKNOWN	Het;C>T	645;37|29	Het;C>T	763;38|34	Hom;C>T	1476;0|52
N	N	-	12	21201663	21201663	G	A	snp	nonsynonymous SNV	G1012A	A338T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	SLCO1B7		ENSG00000205754	solute carrier organic anion transporter family member 1B7 (putative)	chr12:20968673-21245679			Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins.		GO:0006810;transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B7				http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B7&submit=Quick%0D%17557ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B7	rs11045689	0.473842	0.5147	0.6716	0.08	1	13	exonic	exonic	exonic	SLCO1B7	SLCO1B7	ENSG00000205754,ENSG00000257046	nonsynonymous SNV	nonsynonymous SNV	unknown	SLCO1B7:NM_001009562:exon8:c.G1012A:p.A338T,	SLCO1B7:uc010sin.2:exon8:c.G1012A:p.A338T,SLCO1B7:uc010sim.2:exon9:c.G1153A:p.A385T,	UNKNOWN	Het;G>A	233;13|12	Het;G>A	483;15|21	Hom;G>A	1000;0|36
N	N	-	12	28605426	28605426	G	A	snp	nonsynonymous SNV	G346A	V116M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	CCDC91	Ccdc91	ENSG00000123106	coiled-coil domain containing 91	chr12:28286182-28732883		Alcohol Drinking; Echocardiography; Respiratory Function Tests; Tobacco Use Disorder; Disease; Body Height	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0048193;Golgi vesicle transport;IEA|GO:0090160;Golgi to lysosome transport;IMP	GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA	GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCDC91	https://www.uniprot.org/uniprot/Q7Z6B0		https://www.ncbi.nlm.nih.gov/omim/?term=617366	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC91&submit=Quick%0D%5485ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC91	rs10771427	0.669129	0.7838	0.7103	0.15	2	13	exonic	exonic	exonic	CCDC91	CCDC91	ENSG00000123106	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC91:NM_018318:exon10:c.G940A:p.V314M,	CCDC91:uc009zjl.3:exon6:c.G346A:p.V116M,CCDC91:uc001rio.3:exon13:c.G850A:p.V284M,CCDC91:uc001rip.1:exon10:c.G940A:p.V314M,CCDC91:uc001riq.3:exon10:c.G940A:p.V314M,	UNKNOWN	Het;G>A	86;15|6	Het;G>A	413;18|19	Hom;G>A	811;0|27
N	N	-	12	31242271	31242271	G	A	snp	UTR5;UTR3	-635G>A	 	 	 	DDX11	Ddx11	ENSG00000013573	DEAD/H-box helicase 11	chr12:31226779-31257725	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]	WARSAW BREAKAGE SYNDROME	Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology.	XBP1(S) activates chaperone genes	GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP	GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DDX11	https://www.uniprot.org/uniprot/Q96FC9	https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601150	http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11	rs2005896	0	0	0	1	0	0	intronic	UTR5;UTR3	intronic	DDX11	DDX11(uc001rjx.1:c.-635G>A);DDX11(uc010sjw.1:c.*81G>A)	ENSG00000013573	Na	Na	Na	Na	Na	Na	Het;G>A	727;30|27	Het;G>A	653;22|23	Hom;G>A	1058;0|30
N	N	-	12	31242314	31242314	T	C	snp	UTR5;UTR3	-592T>C	 	 	 	DDX11	Ddx11	ENSG00000013573	DEAD/H-box helicase 11	chr12:31226779-31257725	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]	WARSAW BREAKAGE SYNDROME	Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology.	XBP1(S) activates chaperone genes	GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP	GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DDX11	https://www.uniprot.org/uniprot/Q96FC9	https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601150	http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11	rs2005897	0	0.4473	0.3881	1	0	0	intronic	UTR5;UTR3	intronic	DDX11	DDX11(uc001rjx.1:c.-592T>C);DDX11(uc010sjw.1:c.*124T>C)	ENSG00000013573	Na	Na	Na	Na	Na	Na	Het;T>C	768;49|32	Het;T>C	747;45|33	Hom;T>C	1619;0|56
N	N	-	12	31242440	31242440	A	G	snp	UTR5;UTR3	-466A>G	 	 	 	DDX11	Ddx11	ENSG00000013573	DEAD/H-box helicase 11	chr12:31226779-31257725	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]	WARSAW BREAKAGE SYNDROME	Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology.	XBP1(S) activates chaperone genes	GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP	GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DDX11	https://www.uniprot.org/uniprot/Q96FC9	https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601150	http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11	rs2075318	0.60643	0.5157	0.4790	1	0	0	intronic	UTR5;UTR3	UTR3	DDX11	DDX11(uc001rju.1:c.-466A>G,uc001rjx.1:c.-466A>G);DDX11(uc010sjw.1:c.*250A>G)	ENSG00000013573(ENST00000542244:c.*453A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	927;75|45	Het;A>G	1720;100|80	Hom;A>G	2955;0|107
N	N	-	12	31242718	31242718	T	C	snp	UTR5;UTR3	-188T>C	 	 	 	DDX11	Ddx11	ENSG00000013573	DEAD/H-box helicase 11	chr12:31226779-31257725	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]	WARSAW BREAKAGE SYNDROME	Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology.	XBP1(S) activates chaperone genes	GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP	GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DDX11	https://www.uniprot.org/uniprot/Q96FC9	https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601150	http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11	rs2005898	0.633786	0	0	1	0	0	intronic	UTR5;UTR3	intronic	DDX11	DDX11(uc001rju.1:c.-188T>C,uc001rjx.1:c.-188T>C);DDX11(uc010sjw.1:c.*528T>C)	ENSG00000013573	Na	Na	Na	Na	Na	Na	Het;T>C	384;15|10	Het;T>C	239;7|7	Hom;T>C	782;0|18
N	N	-	12	31242725	31242725	T	C	snp	UTR5;UTR3	-181T>C	 	 	 	DDX11	Ddx11	ENSG00000013573	DEAD/H-box helicase 11	chr12:31226779-31257725	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]	WARSAW BREAKAGE SYNDROME	Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology.	XBP1(S) activates chaperone genes	GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP	GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DDX11	https://www.uniprot.org/uniprot/Q96FC9	https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601150	http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11	rs41313157	0.634185	0	0.5299	1	0	0	intronic	UTR5;UTR3	intronic	DDX11	DDX11(uc001rju.1:c.-181T>C,uc001rjx.1:c.-181T>C);DDX11(uc010sjw.1:c.*535T>C)	ENSG00000013573	Na	Na	Na	Na	Na	Na	Het;T>C	417;15|12	Het;T>C	239;9|7	Hom;T>C	892;0|21
N	N	-	12	31249861	31249861	C	G	snp	nonsynonymous SNV	C1699G	Q567E	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	DDX11	Ddx11	ENSG00000013573	DEAD/H-box helicase 11	chr12:31226779-31257725	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]	WARSAW BREAKAGE SYNDROME	Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology.	XBP1(S) activates chaperone genes	GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP	GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DDX11	https://www.uniprot.org/uniprot/Q96FC9	https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601150	http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11	rs2075322	0.641174	0.5298	0.5273	0.17	2	12	exonic	exonic	exonic	DDX11	DDX11	ENSG00000013573	nonsynonymous SNV	nonsynonymous SNV	unknown	DDX11:NM_152438:exon17:c.C1699G:p.Q567E,DDX11:NM_001257145:exon17:c.C1621G:p.Q541E,DDX11:NM_001257144:exon17:c.C1699G:p.Q567E,DDX11:NM_030653:exon17:c.C1699G:p.Q567E,DDX11:NM_004399:exon17:c.C1699G:p.Q567E,	DDX11:uc001rjv.2:exon17:c.C1699G:p.Q567E,DDX11:uc001rjt.1:exon17:c.C1699G:p.Q567E,DDX11:uc001rjr.1:exon17:c.C1699G:p.Q567E,DDX11:uc001rju.1:exon16:c.C733G:p.Q245E,DDX11:uc001rjw.2:exon17:c.C1621G:p.Q541E,DDX11:uc001rjs.1:exon17:c.C1699G:p.Q567E,	UNKNOWN	Het;C>G	2396;125|100	Het;C>G	2381;117|103	Hom;C>G	5577;4|205
N	N	-	12	31256546	31256546	G	A	snp	nonsynonymous SNV	G2567A	R856H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	DDX11	Ddx11	ENSG00000013573	DEAD/H-box helicase 11	chr12:31226779-31257725	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]	WARSAW BREAKAGE SYNDROME	Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology.	XBP1(S) activates chaperone genes	GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP	GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DDX11	https://www.uniprot.org/uniprot/Q96FC9	https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601150	http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11	rs1046457	0.634185	0.4982	0.5095	0.25	3	12	exonic	exonic	exonic	DDX11	DDX11	ENSG00000013573	nonsynonymous SNV	nonsynonymous SNV	unknown	DDX11:NM_152438:exon26:c.G2567A:p.R856H,DDX11:NM_001257145:exon26:c.G2494A:p.V832I,DDX11:NM_001257144:exon26:c.G2567A:p.R856H,DDX11:NM_030653:exon26:c.G2572A:p.V858I,DDX11:NM_004399:exon25:c.G2422A:p.V808I,	DDX11:uc001rjv.2:exon26:c.G2567A:p.R856H,DDX11:uc001rjt.1:exon26:c.G2567A:p.R856H,DDX11:uc009zjo.1:exon2:c.G74A:p.R25H,DDX11:uc001rjr.1:exon26:c.G2572A:p.V858I,DDX11:uc001rju.1:exon25:c.G1588A:p.V530I,DDX11:uc001rjw.2:exon26:c.G2494A:p.V832I,DDX11:uc001rjs.1:exon25:c.G2422A:p.V808I,	UNKNOWN	Het;G>A	1943;114|92	Het;G>A	2053;123|94	Hom;G>A	5129;2|191
N	N	-	12	31256905	31256905	T	C	snp	nonsynonymous SNV	T2851C	C951R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	DDX11	Ddx11	ENSG00000013573	DEAD/H-box helicase 11	chr12:31226779-31257725	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]	WARSAW BREAKAGE SYNDROME	Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology.	XBP1(S) activates chaperone genes	GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP	GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DDX11	https://www.uniprot.org/uniprot/Q96FC9	https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601150	http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11	rs1046458	0.638379	0	0.4082	0.08	1	12	exonic	exonic	exonic	DDX11	DDX11	ENSG00000013573	nonsynonymous SNV	nonsynonymous SNV	unknown	DDX11:NM_152438:exon27:c.T2851C:p.C951R,DDX11:NM_001257144:exon27:c.T2851C:p.C951R,	DDX11:uc001rjv.2:exon27:c.T2851C:p.C951R,DDX11:uc001rjt.1:exon27:c.T2851C:p.C951R,DDX11:uc009zjo.1:exon3:c.T358C:p.C120R,	UNKNOWN	Het;T>C	2696;109|109	Het;T>C	1947;105|90	Hom;T>C	4678;0|153
N	N	-	12	31267744	31267744	A	C	snp	nonsynonymous SNV	T4125G	H1375Q	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	OVOS2	BC048546																	rs7968684	0.637181	0	0.5091	1	0	0	intergenic	exonic	ncRNA_intronic	DDX11(dist=10019),FAM60A(dist=165776)	OVOS2	ENSG00000177359	Na	nonsynonymous SNV	Na	Na	OVOS2:uc010sjy.1:exon30:c.T4125G:p.H1375Q,	Na	Het;A>C	167;25|11	Ref		Hom;A>C	500;0|20
N	N	-	12	31270149	31270149	G	C	snp	nonsynonymous SNV	C3720G	C1240W	polar,hydrophobic,neutral	aromatic,hydrophobic,neutral	OVOS2	BC048546																	rs7316147	0	0.0023	0.3743	1	0	0	intergenic	exonic	ncRNA_exonic	DDX11(dist=12424),FAM60A(dist=163371)	OVOS2	ENSG00000177359	Na	nonsynonymous SNV	Na	Na	OVOS2:uc010sjy.1:exon28:c.C3720G:p.C1240W,	Na	Het;G>C	110;10|4	Ref		Hom;G>C	134;0|4
N	N	-	12	31270150	31270150	C	A	snp	nonsynonymous SNV	G3719T	C1240F	polar,hydrophobic,neutral	aromatic,hydrophobic,neutral	OVOS2	BC048546																	rs7315923	0	0.0008	0.3739	1	0	0	intergenic	exonic	ncRNA_exonic	DDX11(dist=12425),FAM60A(dist=163370)	OVOS2	ENSG00000177359	Na	nonsynonymous SNV	Na	Na	OVOS2:uc010sjy.1:exon28:c.G3719T:p.C1240F,	Na	Het;C>A	110;10|4	Ref		Hom;C>A	134;0|4
N	N	-	12	319125	319125	A	G	snp	nonsynonymous SNV	T28C	C10R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	SLC6A12	Slc6a12	ENSG00000111181	solute carrier family 6 member 12	chr12:299243-323736		asthma; Hyperparathyroidism, Secondary; Alzheimer's disease ; several psychiatric disorders	Mice homozygous for a targeted allele exhibit normal seizure threshold.	Reuptake of GABA	GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;TAS|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;TAS|GO:0015812;gamma-aminobutyric acid transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS	GO:0005215;transporter activity;IBA|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0005332;gamma-aminobutyric acid:sodium symporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC6A12	https://www.uniprot.org/uniprot/P48065		https://www.ncbi.nlm.nih.gov/omim/?term=603080	http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A12&submit=Quick%0D%4033ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A12	rs557881	0.52496	0.5877	0.5238	0.08	1	13	exonic	exonic	exonic	SLC6A12	SLC6A12	ENSG00000111181	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC6A12:NM_001206931:exon2:c.T28C:p.C10R,SLC6A12:NM_001122847:exon3:c.T28C:p.C10R,SLC6A12:NM_003044:exon4:c.T28C:p.C10R,SLC6A12:NM_001122848:exon3:c.T28C:p.C10R,	SLC6A12:uc009zdh.2:exon2:c.T28C:p.C10R,SLC6A12:uc001qia.3:exon3:c.T28C:p.C10R,SLC6A12:uc001qib.3:exon3:c.T28C:p.C10R,SLC6A12:uc001qhz.3:exon4:c.T28C:p.C10R,	UNKNOWN	Het;A>G	1537;83|68	Het;A>G	1513;74|70	Hom;A>G	3965;0|139
N	N	-	12	41582603	41582603	G	C	snp	nonsynonymous SNV	G346C	G116R	aliphatic,neutral	polar,hydrophilic,charged(+)	PDZRN4	Pdzrn4	ENSG00000165966	PDZ domain containing ring finger 4	chr12:41582250-41968392		Amyotrophic Lateral Sclerosis; protein quantitative trait loci; Parkinson Disease; Blood Coagulation Factors; Exercise Test; Alkaline Phosphatase; Hand Strength; Multiple Sclerosis; Heart Rate; multiple sclerosis; Bipolar Disorder; Cholesterol, HDL; Stroke; Creatinine	 				GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZRN4			https://www.ncbi.nlm.nih.gov/omim/?term=609730	http://www.informatics.jax.org/searchtool/Search.do?query=PDZRN4&submit=Quick%0D%11666ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZRN4	rs10879831	0.608626	0	0.7628	0.10	1	10	exonic	exonic	exonic	PDZRN4	PDZRN4	ENSG00000165966	nonsynonymous SNV	nonsynonymous SNV	unknown	PDZRN4:NM_001164595:exon1:c.G346C:p.G116R,	PDZRN4:uc010skn.2:exon1:c.G346C:p.G116R,	UNKNOWN	Het;G>C	371;7|10	Ref		Hom;G>C	996;0|23
N	N	-	12	44148259	44148259	T	C	snp	nonsynonymous SNV	A790G	K264E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	PUS7L	Pus7l	ENSG00000129317	pseudouridylate synthase 7 like	chr12:44122410-44152620		Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	 		GO:0001522;pseudouridine synthesis;IEA|GO:0008033;tRNA processing;IEA|GO:0009451;RNA modification;IEA		GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0009982;pseudouridine synthase activity;IEA|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PUS7L	https://www.uniprot.org/uniprot/Q9H0K6			http://www.informatics.jax.org/searchtool/Search.do?query=PUS7L&submit=Quick%0D%6240ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PUS7L	rs1057190	0.267772	0.2500	0.1584	0.23	3	13	exonic	exonic	exonic	PUS7L	PUS7L	ENSG00000129317	nonsynonymous SNV	nonsynonymous SNV	unknown	PUS7L:NM_001098615:exon2:c.A790G:p.K264E,PUS7L:NM_001098614:exon2:c.A790G:p.K264E,PUS7L:NM_031292:exon2:c.A790G:p.K264E,	PUS7L:uc001rns.5:exon2:c.A790G:p.K264E,PUS7L:uc001rnq.5:exon2:c.A790G:p.K264E,PUS7L:uc001rnr.5:exon2:c.A790G:p.K264E,	UNKNOWN	Het;T>C	2206;72|95	Ref		Hom;T>C	7747;2|292
N	N	-	12	48151822	48151822	C	G	snp	nonsynonymous SNV	G46C	A16P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	RAPGEF3	Rapgef3	ENSG00000079337	Rap guanine nucleotide exchange factor 3	chr12:48128455-48164823		bronchodilator response; depression; smoking behavior	Mice homozygous for a knock-out allele exhibit decreased induced neuron apoptosis. Mice homozygous for a different allele exhibit impaired glucose homeostasis with decreased insulin secretion, increased susceptibility to diet-induced obesity and streptozotocin-induced insulitis and hyperglycemia.	Regulation of insulin secretion	GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008283;cell proliferation;TAS|GO:0019933;cAMP-mediated signaling;NAS|GO:0030822;positive regulation of cAMP catabolic process;NAS|GO:0032486;Rap protein signal transduction;IMP|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034242;negative regulation of syncytium formation by plasma membrane fusion;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:0046827;positive regulation of protein export from nucleus;IDA|GO:0050796;regulation of insulin secretion;TAS|GO:0051496;positive regulation of stress fiber assembly;IMP|GO:0060143;positive regulation of syncytium formation by plasma membrane fusion;IMP|GO:0061028;establishment of endothelial barrier;IMP|GO:0071320;cellular response to cAMP;IDA|GO:1901985;positive regulation of protein acetylation;IMP|GO:2000249;regulation of actin cytoskeleton reorganization;IMP	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;TAS|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0030864;cortical actin cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017034;Rap guanyl-nucleotide exchange factor activity;IMP|GO:0019904;protein domain specific binding;IPI|GO:0030552;cAMP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RAPGEF3	https://www.uniprot.org/uniprot/O95398		https://www.ncbi.nlm.nih.gov/omim/?term=606057	http://www.informatics.jax.org/searchtool/Search.do?query=RAPGEF3&submit=Quick%0D%1698ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAPGEF3	rs11168230	0.296925	0.2920	0.4054	0.08	1	12	exonic	exonic	exonic	RAPGEF3	RAPGEF3	ENSG00000079337	nonsynonymous SNV	nonsynonymous SNV	unknown	RAPGEF3:NM_001098531:exon2:c.G46C:p.A16P,	RAPGEF3:uc001rqb.3:exon2:c.G46C:p.A16P,RAPGEF3:uc009zks.2:exon2:c.G82C:p.A28P,RAPGEF3:uc001rpz.4:exon2:c.G46C:p.A16P,	UNKNOWN	Het;C>G	650;46|29	Ref		Hom;C>G	1883;0|69
N	N	-	12	48272895	48272895	A	G	snp	nonsynonymous SNV	T2C	M1T	hydrophobic,neutral	polar,hydrophilic,neutral	VDR	Vdr	ENSG00000111424	vitamin D receptor	chr12:48235320-48336831	This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Feb 2011]	periodontitis, early-onset; Lupus; idiopathic osteoarthritis; Osteitis Deformans; Osteomalacia; calcific aortic valve stenosis; sex-dependent growth; HIV Infections|Tuberculosis, Pulmonary; osteoarthritis; hip dysplasia; breast cancer; Leprosy, Lepromatous; Multiple Sclerosis; Drug-Induced Liver Injury|Graft vs Host Disease|Inflammation|Leukemia|Liver Diseases; Aggressive Periodontitis|Alveolar Bone Loss|Periodontitis|Periodontitis, Juvenile; Femoral Neck Fractures|Osteoporosis|Spinal Injuries; multiple sclerosis; rickets; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections; Psoriasis; Endometriosis; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Chronic renal failure|Hypertrophy, Left Ventricular|Kidney Failure, Chronic|Left Ventricular Hypertrophy; benign prostatic hyperplasia and benign prostatic enlargement; lead and mercury metabolism; urinary infection; bone cancer; diabetes, type 1; Periodontitis; Alveolar Bone Loss|Chronic Periodontitis; epithelial ovarian cancer ; Erythema Nodosum|Sarcoidosis; esophageal adenocarcinoma; spinal ossification; birth height growth to adolescence and adult stature; leisure physical activity; spondylosis, lumbar; aseptic loosening post hip replacement osteolysis; Lymphoma, Non-Hodgkin; Chronic renal failure|Kidney Failure, Chronic; Difference in height; Body Weight|; Coronary Artery Disease|; ovarian cancer; Grave`s disease; Amyotrophic Lateral Sclerosis; diabetic nephropathy; Coronary Disease|Coronary heart disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Vitamin D Deficiency; Inflammation|Venous Thromboembolism; vertebral fracture; juvenile idiopathic arthritis; Kidney Diseases; myocardial infarct; colon cancer rectal cancer; Rickets; lead nephrotoxicity; HIV Infections|[X]Human immunodeficiency virus disease; Gaucher Disease|Osteoporosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Osteoporosis; lumbar disc disease; malignant melanoma; arthritis; Scoliosis; Coronary Artery Disease|Kidney Failure|Uremia; Hypercalcemia|Sarcoidosis, Pulmonary; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Alveolar Bone Loss|Tooth Loss; Urolithiasis; Intervertebral Disk Displacement; Colonic Neoplasms|Insulin Resistance|Rectal Neoplasms; Alveolar Bone Loss|Periodontal Attachment Loss|Tooth Loss; obesity; diabetes, type 2; Body Weight. Bone Mineral Density. and Osteoporotic; beta-Thalassemia; hepatitis B; Hypophosphatemic Rickets, X-Linked Dominant; Coronary Restenosis; Calcinosis|Coronary Artery Disease; Bone Diseases|Osteoporosis; Urinary Calculi; Asthma|; Tuberculosis|Tuberculosis, Pulmonary; Fabry Disease; Albuminuria|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Diabetic Retinopathy; Acquired Immunodeficiency Syndrome|Disease Progression; prevalence and severity of CAD; calcium nephrolithiasis; Fractures, Stress; Carcinoma, Papillary, Follicular|Thyroid Neoplasms; ovarian cancer ; Colitis, Ulcerative; Addison's disease; Primary Biliary Cirrhosis; Body Weight; Neoplasms; Fractures, Spontaneous|Osteoporosis, Postmenopausal; breast cancer ; calcium homeostasis and peripheral bone density ; Graves Disease|Graves' Disease; combined bone mass; Kidney Calculi; occupational exposure in lumbar disc degeneration; inflammatory bowel disease ; Chronic renal failure|Hyperparathyroidism|Kidney Failure, Chronic; Leukemia; osteoporosis, postmenopausal; Adenoma|Colonic Neoplasms|Recurrence; Ossification of Posterior Longitudinal Ligament; tuberculosis ; Type 2 diabetes; Bone Resorption; Chronic renal failure|Hyperparathyroidism, Secondary|Kidney Failure, Chronic; Leprosy; bone density; fractures; Birth Weight|Spinal Osteophytosis; hematopoietic outcomes, lead exposure related; lead; psoriasis; cirrhosis, biliary primary; liver disease; extracellular magnesium concentration; leukemia | bone mineral density; Albuminuria|Inflammation|Kidney Diseases; Autoimmune Diseases|Vitiligo; bone density; fractures, vertebral; periodontitis; Tuberculosis, Pulmonary; Hip Fractures|Osteoporosis, Postmenopausal; COPD | Chronic obstructive Pulmonary Disease; Graves Disease|Thyroiditis, Autoimmune; melanoma|Skin Neoplasms; Birth Weight|Fetal Growth Retardation|Intrauterine growth retardation|Vitamin D Deficiency; Dengue Hemorrhagic Fever; bone mineral density; bronchodilator response; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; respiratory syncytial virus bronchiolitis; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Diabetes Mellitus, Type 1; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Sarcopenia; Birth Weight|Fetal Diseases|Nutrition Disorders|Osteoporosis|Prenatal Exposure Delayed Effects; Anemia; creatinine kidney function lead toxicity; urinary stone; Anemia, Iron-Deficiency|Kidney Failure, Chronic; Tuberculosis; diabetes, type 1 ; smoking; Spinal Cord Diseases|Spondylosis; Fractures, Bone; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Arthritis, Rheumatoid|Osteoporosis|Rheumatoid Arthritis; Vitiligo; colorectal adenomas; colorectal cancer; pregnancy loss, recurrent; BsmI vitamin D receptor gene polymorphism; breast cancer risk; prostate cancer; normal variation; gastrointestinal toxicity leukemia; Brain Ischemia|Hypertension|Osteoporosis|Stroke; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary|Osteoporosis; Hip Dislocation, Congenital; Spinal Diseases; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Osteoporosis|Rheumatoid Arthritis|Systemic lupus erythematosus; Dwarfism, Pituitary|Pituitary dwarfism|Turner Syndrome|XO syndrome; Hepatitis B; radiographic osteoarthritis at the knee; arthritis, juvenile; betaCL osteocalcin; lead toxicity; chronic obstructive pulmonary disease; HTLV-I Infections|Paraparesis, Tropical Spastic|Tropical Spastic Paraparesis; Hypercalcemia|Hypercalciuria; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver Cirrhosis, Alcoholic|Liver neoplasms; Calcium Metabolism Disorders; chronic renal failure.; Progression to AIDS; Bone Diseases, Developmental|Osteoarthritis, Hip; breast cancer fibroadenoma; blood pressure; Osteoporosis, Postmenopausal; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Squamous Cell|Cell Transformation, Neoplastic|Skin Neoplasms|Squamous cell carcinoma; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Diabetic Retinopathy; Kidney Failure, Chronic|Periodontitis; graft-versus-host disease; bone density calcium phosphorus; Keratosis|Melanoma|Skin Neoplasms; disc degeneration, intervertebral; Brain Ischemia|Inflammation|Stroke; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; Kidney Calculi|Recurrence; liver transplant; Alveolar Bone Loss|Periodontitis; Intervertebral Disk Degeneration|Intervertebral Disk Displacement; calcium oxalate stone disease; Birth Weight|Vitamin D Deficiency; prostate cancer | breast cancer ; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Alopecia Areata; breast cancer development; metastatic breast cancer; Carcinoma, Squamous Cell|Esophageal Neoplasms|Precancerous Conditions; Alzheimer's disease ; Tuberculosis, Spinal; Bacterial Vaginosis|Fetal Membranes, Premature Rupture|Vaginosis, Bacterial; Hepatitis C|Remission, Spontaneous; Rectal Neoplasms; Brill-Symmers disease|Lymphoma, Follicular|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Autoimmune Diseases|Liver Cirrhosis, Biliary; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; pharmacogenetic studies; Degenerative arthropathy |Osteoarthritis; Hyperparathyroidism, Secondary; cognitive ability; Atherosclerosis|Ossification of Posterior Longitudinal Ligament; Acquired Immunodeficiency Syndrome|Substance Abuse, Intravenous; Fractures, Bone|Osteoporosis; blood lead concentration in children.; osteoarthritis; Precursor Cell Lymphoblastic Leukemia-Lymphoma; lung cancer ; Brain Ischemia|Stroke; Hashimoto Disease; Arthritis, Reactive|Campylobacter Infections|Salmonella Infections; Bronchiolitis|Pneumonia; BMI; Bone Resorption|Osteoporosis, Postmenopausal; body mass; bone density; fat-free mass and sarcopenia; calcium; Hip Fractures|Osteoporosis; body mass; lipoproteins; blood pressure; CrossLaps, urinary; osteocalcin; rheumatoid arthritis; zinc; lead toxicity; height; weight; Melanoma|Neoplasm Recurrence, Local; chronic periodontitis ; Diabetes Complications|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Diabetic Neuropathies|Diabetic Retinopathy; leukemia; null; Hepatitis B, Chronic; Adenoma|Colorectal Neoplasms; Chronic renal failure|Hypercalcemia|Kidney Failure, Chronic; Crohn's disease; osteoporosis, postmenopausal; estradiol; hypertension; ALS/amyotrophic lateral sclerosis; Fractures, Bone|Osteoporosis|Spinal Fractures; Parkinson's disease; Arthritis, Rheumatoid|Disease Susceptibility|Rheumatoid Arthritis; leprosy type; melanoma; Colonic Neoplasms|Microsatellite Instability; obesity|asthma; calcium oxalate stone formation; Aortic Valve Stenosis|; Alveolar Bone Loss|Periodontal Attachment Loss|Periodontitis; blood pressure, arterial; Q fever; Colonic Neoplasms; osteoporosis, postmenopausal; osteopenia; Arthritis, Rheumatoid|Rheumatoid Arthritis; Chronic ulcerative colitis|Colitis, Ulcerative; Kidney Diseases|Lithiasis; Type 2 Diabetes| edema | rosiglitazone; bone density; chronic periodontitis; urolithiasis; Neoplasms, Prostatic|Prostatic Neoplasms; Graft vs Host Disease; Menopause, Premature; Alzheimer's disease; osteoporosis; kidney stone disease; Celiac Disease|; bone mass; nephrolithiasis; height in children; Migraine Disorders; Hyperparathyroidism; Osteonecrosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma; bone metastases; Colonic Neoplasms|Obesity; Insulin Resistance|Polycystic Ovary Syndrome; Femoral Neck Fractures|Fractures, Stress; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; asthma; systemic lupus erythematosus; Carcinoma, Renal Cell|Kidney Neoplasms; End Stage Renal Disease; lung cancer; Colorectal Neoplasms; Autoimmune Hepatitis; pulmonary tuberculosis; rubella vaccine; Cardiovascular Diseases|Neoplasms; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Retinopathy; quantitative calcaneal ultrasound; Alzheimer's Disease; prostatic hyperplasia; Recurrence|Venous Thromboembolism; metabolic syndrome; bladder cancer; physical activity; Lead Poisoning; Kidney Diseases|Urolithiasis; Ache, Low Back|Intervertebral Disk Displacement|Spinal Osteophytosis; tuberculosis; renal cell carcinoma; Graves Disease; Chlamydia Infections|Inflammation|Trachoma; Bone Diseases, Metabolic|Osteoporosis|Spondylitis, Ankylosing; serum total and ionized calcium concentration; prostate volume/histology endocrine patterns; dengue hemorrhagic fever; Calcium Nephrolithiasis; BILIARY CIRRHOSIS|Hepatitis, Autoimmune|Liver Cirrhosis, Biliary; Arthritis, Psoriatic; Carcinoma, Renal Cell|Renal Cell Carcinoma; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Lymphatic Metastasis|Mammary Neoplasms|Neoplasm Invasiveness|Neoplasm Metastasis|Neoplasm Recurrence, Local; early osteoarthritis; Osteoarthritis; bone remodeling; atherosclerosis, coronary; hepatitis B Virus infection; Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Pulmonary Disease, Chronic Obstructive; Fractures, Bone|Osteoporosis|Osteoporosis, Postmenopausal; Lymphadenitis|Mycobacterium Infections|Periodontitis; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; osteonecrosis; Adenoma|Colorectal Neoplasms|Neoplasm Recurrence, Local; body mass; birth weight; height; Coronary Artery Disease|Inflammation; Carcinoma, Basal Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms; Vitamin D deficiency rickets; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Hip Fractures; hyperthyroidism; Osteoporosis; Melanoma|Skin Neoplasms; Bone Mineral Density	Homozygous null mutants fail to thrive after weaning and may exhibit excess mortality.  Postweaning mutant mice develop alopecia, hypocalcemia, infertility, and rickets.  Mutant females exhibit uterine hypoplasia with impaired follicular development.	Nuclear Receptor transcription pathway	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000902;cell morphogenesis;IMP|GO:0001501;skeletal system development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007595;lactation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009887;animal organ morphogenesis;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0010839;negative regulation of keratinocyte proliferation;IMP|GO:0010980;positive regulation of vitamin D 24-hydroxylase activity;IDA|GO:0038183;bile acid signaling pathway;IDA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046697;decidualization;IEP|GO:0050892;intestinal absorption;IEA|GO:0060058;positive regulation of apoptotic process involved in mammary gland involution;IEA|GO:0060558;regulation of calcidiol 1-monooxygenase activity;ISS|GO:0060745;mammary gland branching involved in pregnancy;IEA|GO:0070561;vitamin D receptor signaling pathway;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0043235;receptor complex;IDA|GO:0090575;RNA polymerase II transcription factor complex;IDA	GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0008434;calcitriol receptor activity;IDA|GO:0038186;lithocholic acid receptor activity;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046965;retinoid X receptor binding;IPI|GO:0070644;vitamin D response element binding;IDA|GO:1902098;calcitriol binding;IDA|GO:1902121;lithocholic acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/VDR	https://www.uniprot.org/uniprot/P11473	https://hpo.jax.org/app/browse/search?q=VDR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601769	http://www.informatics.jax.org/searchtool/Search.do?query=VDR&submit=Quick%0D%4077ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VDR	rs2228570	0.671526	0.6732	0.6376	0.58	7	12	exonic	exonic	exonic	VDR	VDR	ENSG00000111424	nonsynonymous SNV	nonsynonymous SNV	unknown	VDR:NM_000376:exon3:c.T2C:p.M1T,VDR:NM_001017535:exon4:c.T2C:p.M1T,VDR:NM_001017536:exon3:c.T152C:p.M51T,	VDR:uc001rqn.3:exon3:c.T2C:p.M1T,VDR:uc001rqm.3:exon4:c.T2C:p.M1T,VDR:uc001rql.3:exon3:c.T152C:p.M51T,	UNKNOWN	Het;A>G	1972;74|85	Het;A>G	1317;99|67	Hom;A>G	3174;0|113
N	N	-	12	48398080	48398080	T	A	snp	nonsynonymous SNV	A25T	T9S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	COL2A1	Col2a1	ENSG00000139219	collagen type II alpha 1 chain	chr12:48366748-48398269	This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]	osteoarthritis of the knee; Intervertebral Disk Displacement; Type 2 Diabetes| edema | rosiglitazone; osteoarthritis; hip dysplasia; bronchodilator response; Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis; Myopia; osteoarthritis of the hip; Toxoplasmosis, Congenital; Cleft Lip|Cleft Palate; Osteoarthritis; osteoarthritis; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; rheumatoid arthritis; null; Strudwick variant of spondyloepimetaphyseal dysplasia; Parkinson Disease; retinal detachment; disc degeneration; Cumulative Trauma Disorders|Occupational Diseases|Osteoarthritis; Toxoplasmosis, Cerebral|Toxoplasmosis, Congenital|Toxoplasmosis, Ocular; Stickler syndrome (hereditary arthro-ophthalmopathy)	Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix.	Collagen chain trimerization	GO:0001501;skeletal system development;IMP|GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0001894;tissue homeostasis;IEA|GO:0001958;endochondral ossification;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0007417;central nervous system development;IEA|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0010468;regulation of gene expression;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IMP|GO:0030574;collagen catabolic process;TAS|GO:0030903;notochord development;IEA|GO:0035108;limb morphogenesis;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048839;inner ear development;IEA|GO:0050776;regulation of immune response;TAS|GO:0051216;cartilage development;TAS|GO:0060021;palate development;IEA|GO:0060174;limb bud formation;IEA|GO:0060272;embryonic skeletal joint morphogenesis;IMP|GO:0060348;bone development;IEA|GO:0060351;cartilage development involved in endochondral bone morphogenesis;IEA|GO:0071599;otic vesicle development;IEA|GO:0071773;cellular response to BMP stimulus;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005585;collagen type II trimer;IDA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA	GO:0005201;extracellular matrix structural constituent;IEA|GO:0030020;extracellular matrix structural constituent conferring tensile strength;IC|GO:0042289;MHC class II protein binding;IPI|GO:0042802;identical protein binding;NAS|GO:0046872;metal ion binding;IEA|GO:0048407;platelet-derived growth factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/COL2A1	https://www.uniprot.org/uniprot/P02458	https://hpo.jax.org/app/browse/search?q=COL2A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120140	http://www.informatics.jax.org/searchtool/Search.do?query=COL2A1&submit=Quick%0D%7856ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL2A1	rs3803183	0.685304	0.7891	0.7726	0.23	3	13	exonic	exonic	exonic	COL2A1	COL2A1	ENSG00000139219	nonsynonymous SNV	nonsynonymous SNV	unknown	COL2A1:NM_033150:exon1:c.A25T:p.T9S,COL2A1:NM_001844:exon1:c.A25T:p.T9S,	COL2A1:uc001rqu.3:exon1:c.A25T:p.T9S,COL2A1:uc001rqv.3:exon1:c.A25T:p.T9S,	UNKNOWN	Het;T>A	2150;117|108	Het;T>A	2741;77|123	Hom;T>A	5221;0|197
N	N	-	12	48578325	48578325	A	C	snp	nonsynonymous SNV	A420C	E140D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	C12orf68	 																	rs10783231	0.594649	0.7452	0.7201	0.08	1	13	exonic	exonic	exonic	CCDC184	C12orf68	ENSG00000177875	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC184:NM_001013635:exon1:c.A420C:p.E140D,	C12orf68:uc001rrj.2:exon1:c.A420C:p.E140D,	UNKNOWN	Het;A>C	2011;94|87	Ref		Hom;A>C	4282;0|152
N	N	-	12	52284668	52284668	C	A	snp	nonsynonymous SNV	C626A	T209N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ANKRD33	Ankrd33	ENSG00000167612	ankyrin repeat domain 33	chr12:52281744-52285448		Cholesterol	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:2000678;negative regulation of transcription regulatory region DNA binding;IEA	GO:0005634;nucleus;IEA|GO:0005829;cytosol;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ANKRD33				http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD33&submit=Quick%0D%12054ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD33	rs12368048	0.165136	0.1835	0.2012	0.77	10	13	exonic	exonic	exonic	ANKRD33	ANKRD33	ENSG00000167612	nonsynonymous SNV	nonsynonymous SNV	unknown	ANKRD33:NM_001304460:exon4:c.C356A:p.T119N,ANKRD33:NM_001130015:exon5:c.C563A:p.T188N,ANKRD33:NM_182608:exon5:c.C938A:p.T313N,ANKRD33:NM_001304459:exon6:c.C626A:p.T209N,	ANKRD33:uc001rze.3:exon6:c.C626A:p.T209N,ANKRD33:uc001rzd.3:exon5:c.C938A:p.T313N,ANKRD33:uc001rzi.4:exon4:c.C563A:p.T188N,ANKRD33:uc001rzg.4:exon4:c.C344A:p.T115N,ANKRD33:uc001rzf.4:exon5:c.C563A:p.T188N,	UNKNOWN	Het;C>A	4676;214|207	Ref		Hom;C>A	11510;3|434
N	N	-	12	52866060	52866060	C	T	snp	nonsynonymous SNV	G545A	R182Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	KRT6C		ENSG00000170465	keratin 6C	chr12:52862300-52867569	Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jul 2009]	Palmoplantar keratoderma nonepidermolytic focal or diffuse	Mice homozygous for a targeted null mutation exhibit delayed wound healing.	Formation of the cornified envelope	GO:0031424;keratinization;TAS|GO:0045104;intermediate filament cytoskeleton organization;IMP|GO:0070268;cornification;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT6C		https://hpo.jax.org/app/browse/search?q=KRT6C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612315	http://www.informatics.jax.org/searchtool/Search.do?query=KRT6C&submit=Quick%0D%12712ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT6C	rs11608915	0.400559	0.4097	0.5144	0.77	10	13	exonic	exonic	exonic	KRT6C	KRT6C	ENSG00000170465	nonsynonymous SNV	nonsynonymous SNV	unknown	KRT6C:NM_173086:exon2:c.G545A:p.R182Q,	KRT6C:uc001sal.4:exon2:c.G545A:p.R182Q,	UNKNOWN	Het;C>T	1320;64|54	Het;C>T	1047;34|41	Hom;C>T	2476;0|84
N	N	-	12	52965173	52965173	T	G	snp	nonsynonymous SNV	A813C	E271D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	KRT74		ENSG00000170484	keratin 74	chr12:52959566-52967609	Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009]	Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; Heart Failure; Tobacco Use Disorder		Formation of the cornified envelope	GO:0031424;keratinization;TAS|GO:0045104;intermediate filament cytoskeleton organization;IDA|GO:0070268;cornification;TAS	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:1990254;keratin filament binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT74		https://hpo.jax.org/app/browse/search?q=KRT74&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608248	http://www.informatics.jax.org/searchtool/Search.do?query=KRT74&submit=Quick%0D%12720ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT74	rs670741	0.807308	0.8185	0.7449	0.23	3	13	exonic	exonic	exonic	KRT74	KRT74	ENSG00000170484	nonsynonymous SNV	nonsynonymous SNV	unknown	KRT74:NM_175053:exon4:c.A813C:p.E271D,	KRT74:uc001sap.1:exon4:c.A813C:p.E271D,	UNKNOWN	Het;T>G	2632;84|116	Het;T>G	2016;64|89	Hom;T>G	4798;0|180
N	N	-	12	53165949	53165949	C	T	snp	nonsynonymous SNV	G1066A	E356K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	KRT76	Krt76	ENSG00000185069	keratin 76	chr12:53161939-53171129	Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jun 2009]	Alcoholism; Body Fat Distribution	Homozygotes mutants exhibit abnormalities in the hair cycle, tail skin and pigmentation, in the epidermis, and in the sebaceous gland.	Formation of the cornified envelope	GO:0007010;cytoskeleton organization;NAS|GO:0008544;epidermis development;IEA|GO:0031424;keratinization;TAS|GO:0043473;pigmentation;IEA|GO:0048733;sebaceous gland development;IEA|GO:0070268;cornification;TAS	GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KRT76			https://www.ncbi.nlm.nih.gov/omim/?term=616671	http://www.informatics.jax.org/searchtool/Search.do?query=KRT76&submit=Quick%0D%15337ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT76	rs12296548	0.13778	0.1168	0.1355	0.85	11	13	exonic	exonic	exonic	KRT76	KRT76	ENSG00000185069	nonsynonymous SNV	nonsynonymous SNV	unknown	KRT76:NM_015848:exon5:c.G1066A:p.E356K,	KRT76:uc001sax.3:exon5:c.G1066A:p.E356K,	UNKNOWN	Het;C>T	861;53|38	Het;C>T	810;36|35	Hom;C>T	1843;0|63
N	N	-	12	56815922	56815922	C	T	snp	nonsynonymous SNV	G2492A	R831Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	TIMELESS	Timeless	ENSG00000111602	timeless circadian clock	chr12:56810903-56843187	The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014]	Tobacco Use Disorder; bipolar disorder; asthma; atopy; Alcoholism; schizophrenia | bipolar disorder; prostate cancer; metabolic syndrome; depression; asthma; rheumatoid arthritis; bipolar disorder schizoaffective disorder schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Sleep Disorders; diurnal preferences	Mice homozygous for a targeted mutation exhibit early embryonic lethality at aprroximately the time of implantation.	Processing of DNA double-strand break ends	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006260;DNA replication;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0007623;circadian rhythm;TAS|GO:0009582;detection of abiotic stimulus;TAS|GO:0009628;response to abiotic stimulus;TAS|GO:0030324;lung development;IEA|GO:0042752;regulation of circadian rhythm;IMP|GO:0044770;cell cycle phase transition;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0051301;cell division;IEA|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:2000781;positive regulation of double-strand break repair;IMP	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS	GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIMELESS	https://www.uniprot.org/uniprot/Q9UNS1		https://www.ncbi.nlm.nih.gov/omim/?term=603887	http://www.informatics.jax.org/searchtool/Search.do?query=TIMELESS&submit=Quick%0D%4091ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMELESS	rs774047	0.498802	0.3824	0.4898	0.08	1	13	exonic	exonic	exonic	TIMELESS	TIMELESS	ENSG00000111602	nonsynonymous SNV	nonsynonymous SNV	unknown	TIMELESS:NM_003920:exon20:c.G2492A:p.R831Q,	TIMELESS:uc001slf.2:exon20:c.G2492A:p.R831Q,	UNKNOWN	Het;C>T	874;57|39	Ref		Hom;C>T	2164;0|81
N	N	-	12	56822378	56822378	T	A	snp	nonsynonymous SNV	A1363T	I455L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TIMELESS	Timeless	ENSG00000111602	timeless circadian clock	chr12:56810903-56843187	The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014]	Tobacco Use Disorder; bipolar disorder; asthma; atopy; Alcoholism; schizophrenia | bipolar disorder; prostate cancer; metabolic syndrome; depression; asthma; rheumatoid arthritis; bipolar disorder schizoaffective disorder schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Sleep Disorders; diurnal preferences	Mice homozygous for a targeted mutation exhibit early embryonic lethality at aprroximately the time of implantation.	Processing of DNA double-strand break ends	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006260;DNA replication;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0007623;circadian rhythm;TAS|GO:0009582;detection of abiotic stimulus;TAS|GO:0009628;response to abiotic stimulus;TAS|GO:0030324;lung development;IEA|GO:0042752;regulation of circadian rhythm;IMP|GO:0044770;cell cycle phase transition;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0051301;cell division;IEA|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:2000781;positive regulation of double-strand break repair;IMP	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS	GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIMELESS	https://www.uniprot.org/uniprot/Q9UNS1		https://www.ncbi.nlm.nih.gov/omim/?term=603887	http://www.informatics.jax.org/searchtool/Search.do?query=TIMELESS&submit=Quick%0D%4091ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMELESS	rs774027	0.506589	0.3917	0.4941	0.08	1	13	exonic	exonic	exonic	TIMELESS	TIMELESS	ENSG00000111602	nonsynonymous SNV	nonsynonymous SNV	unknown	TIMELESS:NM_003920:exon12:c.A1363T:p.I455L,	TIMELESS:uc001slf.2:exon12:c.A1363T:p.I455L,TIMELESS:uc001slg.2:exon12:c.A1360T:p.I454L,	UNKNOWN	Het;T>A	918;60|43	Ref		Hom;T>A	2348;1|88
N	N	-	12	57865321	57865321	G	A	snp	nonsynonymous SNV	G2675A	G892D	aliphatic,neutral	polar,hydrophilic,charged(-)	GLI1	Gli1	ENSG00000111087	GLI family zinc finger 1	chr12:57853918-57866045	This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]	Carcinoma, Basal Cell|Skin Neoplasms; ventricular septal defect; Inflammation|Inflammatory Bowel Diseases; Chronic renal failure|Kidney Failure, Chronic	Homozygotes for a targeted null mutation are apparently normal, but homozygotes that are also heterozygous for a Gli2 knockout die soon after birth with multiple defects, while Gli2 knockout heterozygotes are normally viable.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0001649;osteoblast differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007418;ventral midline development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;TAS|GO:0009611;response to wounding;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045667;regulation of osteoblast differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045880;positive regulation of smoothened signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048546;digestive tract morphogenesis;TAS|GO:0060032;notochord regression;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097421;liver regeneration;IEA|GO:2000345;regulation of hepatocyte proliferation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLI1	https://www.uniprot.org/uniprot/P08151	https://hpo.jax.org/app/browse/search?q=GLI1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=165220	http://www.informatics.jax.org/searchtool/Search.do?query=GLI1&submit=Quick%0D%4028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI1	rs2228224	0.364018	0.4982	0.5027	0.08	1	13	exonic	exonic	exonic	GLI1	GLI1	ENSG00000111087	nonsynonymous SNV	nonsynonymous SNV	unknown	GLI1:NM_005269:exon12:c.G2798A:p.G933D,GLI1:NM_001160045:exon10:c.G2414A:p.G805D,GLI1:NM_001167609:exon11:c.G2675A:p.G892D,	GLI1:uc021qzi.1:exon11:c.G2675A:p.G892D,GLI1:uc009zpq.3:exon10:c.G2414A:p.G805D,GLI1:uc001snx.3:exon12:c.G2798A:p.G933D,	UNKNOWN	Het;G>A	901;45|41	Het;G>A	480;51|24	Hom;G>A	2313;0|83
N	N	-	12	57865821	57865821	G	C	snp	nonsynonymous SNV	G3175C	E1059Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	GLI1	Gli1	ENSG00000111087	GLI family zinc finger 1	chr12:57853918-57866045	This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]	Carcinoma, Basal Cell|Skin Neoplasms; ventricular septal defect; Inflammation|Inflammatory Bowel Diseases; Chronic renal failure|Kidney Failure, Chronic	Homozygotes for a targeted null mutation are apparently normal, but homozygotes that are also heterozygous for a Gli2 knockout die soon after birth with multiple defects, while Gli2 knockout heterozygotes are normally viable.	GLI proteins bind promoters of Hh responsive genes to promote transcription	GO:0001649;osteoblast differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007418;ventral midline development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;TAS|GO:0009611;response to wounding;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045667;regulation of osteoblast differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045880;positive regulation of smoothened signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048546;digestive tract morphogenesis;TAS|GO:0060032;notochord regression;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097421;liver regeneration;IEA|GO:2000345;regulation of hepatocyte proliferation;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLI1	https://www.uniprot.org/uniprot/P08151	https://hpo.jax.org/app/browse/search?q=GLI1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=165220	http://www.informatics.jax.org/searchtool/Search.do?query=GLI1&submit=Quick%0D%4028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI1	rs2228226	0.586262	0.7118	0.6061	0.23	3	13	exonic	exonic	exonic	GLI1	GLI1	ENSG00000111087	nonsynonymous SNV	nonsynonymous SNV	unknown	GLI1:NM_005269:exon12:c.G3298C:p.E1100Q,GLI1:NM_001160045:exon10:c.G2914C:p.E972Q,GLI1:NM_001167609:exon11:c.G3175C:p.E1059Q,	GLI1:uc021qzi.1:exon11:c.G3175C:p.E1059Q,GLI1:uc009zpq.3:exon10:c.G2914C:p.E972Q,GLI1:uc001snx.3:exon12:c.G3298C:p.E1100Q,	UNKNOWN	Het;G>C	1221;66|44	Het;G>C	962;50|39	Hom;G>C	3337;0|122
N	N	-	12	57869582	57869582	T	C	snp	nonsynonymous SNV	A355G	T119A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	ARHGAP9	Arhgap9	ENSG00000123329	Rho GTPase activating protein 9	chr12:57866038-57882597	This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; coronary spastic angina	 	Neutrophil degranulation	GO:0007165;signal transduction;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP9	https://www.uniprot.org/uniprot/Q9BRR9		https://www.ncbi.nlm.nih.gov/omim/?term=610576	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP9&submit=Quick%0D%5509ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP9	rs2277315	0.590655	0.7116	0.6279	0.08	1	12	intronic	exonic	exonic	ARHGAP9	ARHGAP9	ENSG00000123329	Na	nonsynonymous SNV	unknown	Na	ARHGAP9:uc001soa.3:exon7:c.A355G:p.T119A,ARHGAP9:uc001sod.3:exon13:c.A1558G:p.T520A,	UNKNOWN	Het;T>C	876;44|36	Het;T>C	1042;43|44	Hom;T>C	1936;0|64
N	N	-	12	57870155	57870155	A	C	snp	nonsynonymous SNV	T1108G	S370A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	ARHGAP9	Arhgap9	ENSG00000123329	Rho GTPase activating protein 9	chr12:57866038-57882597	This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; coronary spastic angina	 	Neutrophil degranulation	GO:0007165;signal transduction;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP9	https://www.uniprot.org/uniprot/Q9BRR9		https://www.ncbi.nlm.nih.gov/omim/?term=610576	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP9&submit=Quick%0D%5509ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP9	rs11544238	0.370208	0.4894	0.5086	0.08	1	13	exonic	exonic	exonic	ARHGAP9	ARHGAP9	ENSG00000123329	nonsynonymous SNV	nonsynonymous SNV	unknown	ARHGAP9:NM_032496:exon8:c.T1108G:p.S370A,ARHGAP9:NM_001080157:exon7:c.T1108G:p.S370A,ARHGAP9:NM_001080156:exon6:c.T556G:p.S186A,	ARHGAP9:uc001sob.3:exon7:c.T1108G:p.S370A,ARHGAP9:uc001soc.3:exon8:c.T1108G:p.S370A,ARHGAP9:uc001soa.3:exon5:c.T118G:p.S40A,ARHGAP9:uc001snz.3:exon6:c.T556G:p.S186A,ARHGAP9:uc001sod.3:exon11:c.T1321G:p.S441A,ARHGAP9:uc001soe.1:exon11:c.T1345G:p.S449A,	UNKNOWN	Het;A>C	276;7|14	Het;A>C	219;10|10	Hom;A>C	460;2|18
N	N	-	12	62928633	62928633	G	A	snp	nonsynonymous SNV	G1642A	A548T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	MON2	Mon2	ENSG00000061987	MON2 homolog, regulator of endosome-to-Golgi trafficking	chr12:62860597-62991363			 		GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0015031;protein transport;IEA	GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MON2	https://www.uniprot.org/uniprot/Q7Z3U7		https://www.ncbi.nlm.nih.gov/omim/?term=616822	http://www.informatics.jax.org/searchtool/Search.do?query=MON2&submit=Quick%0D%1082ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MON2	rs10219555	0.347444	0.3662	0.3442	0.31	4	13	exonic	exonic	exonic	MON2	MON2	ENSG00000061987	nonsynonymous SNV	nonsynonymous SNV	unknown	MON2:NM_001278469:exon13:c.G1642A:p.A548T,MON2:NM_001278470:exon13:c.G1642A:p.A548T,MON2:NM_001278471:exon13:c.G1642A:p.A548T,MON2:NM_001278472:exon14:c.G1426A:p.A476T,MON2:NM_015026:exon13:c.G1642A:p.A548T,	MON2:uc001sre.3:exon13:c.G1642A:p.A548T,MON2:uc001srf.3:exon7:c.G931A:p.A311T,MON2:uc009zqj.3:exon13:c.G1642A:p.A548T,MON2:uc010ssm.2:exon13:c.G1642A:p.A548T,MON2:uc010ssn.2:exon13:c.G1642A:p.A548T,MON2:uc010ssl.2:exon14:c.G1426A:p.A476T,	UNKNOWN	Het;G>A	1597;118|83	Ref		Hom;G>A	4838;0|182
12_78.016_106.016	Chr12:64973018-92996828	1.299	12	66546100	66546100	A	G	snp	nonsynonymous SNV	T263C	I88T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	TMBIM4	Tmbim4	ENSG00000155957	transmembrane BAX inhibitor motif containing 4	chr12:66517709-66563852			 		GO:0006915;apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0050848;regulation of calcium-mediated signaling;IDA	GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TMBIM4	https://www.uniprot.org/uniprot/Q9HC24		https://www.ncbi.nlm.nih.gov/omim/?term=616874	http://www.informatics.jax.org/searchtool/Search.do?query=TMBIM4&submit=Quick%0D%9918ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMBIM4	rs8793	0.470447	0.3817	0.4472	0.08	1	13	exonic	exonic	exonic	TMBIM4	TMBIM4	ENSG00000155957,ENSG00000228144	nonsynonymous SNV	nonsynonymous SNV	unknown	TMBIM4:NM_001282606:exon4:c.T404C:p.I135T,TMBIM4:NM_001282609:exon3:c.T263C:p.I88T,TMBIM4:NM_001282610:exon3:c.T170C:p.I57T,TMBIM4:NM_016056:exon3:c.T263C:p.I88T,	TMBIM4:uc001stc.3:exon3:c.T263C:p.I88T,TMBIM4:uc001std.3:exon3:c.T170C:p.I57T,TMBIM4:uc001stf.3:exon3:c.T263C:p.I88T,TMBIM4:uc009zqs.3:exon3:c.T263C:p.I88T,TMBIM4:uc009zqr.3:exon4:c.T404C:p.I135T,	UNKNOWN	Het;A>G	578;36|28	Het;A>G	932;19|42	Hom;A>G	2382;0|86
12_78.016_106.016	Chr12:64973018-92996828	1.299	12	66725202	66725202	C	T	snp	nonsynonymous SNV	C2939T	T980I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	HELB	Helb	ENSG00000127311	DNA helicase B	chr12:66696325-66737423	This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]		Homozygous knockout MEFs display increased DNA end resection, resulting in increased level of single-strand DNA formation at double-strand DNA breaks.		GO:0006260;DNA replication;IMP|GO:0006261;DNA-dependent DNA replication;IEA|GO:0006269;DNA replication, synthesis of RNA primer;IDA|GO:0006281;DNA repair;IEA|GO:0006396;RNA processing;IBA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:1903775;regulation of DNA double-strand break processing;IMP|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IMP	GO:0005634;nucleus;IEA|GO:0005658;alpha DNA polymerase:primase complex;IDA|GO:0005662;DNA replication factor A complex;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0035861;site of double-strand break;IMP	GO:0000166;nucleotide binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0017116;single-stranded DNA-dependent ATP-dependent DNA helicase activity;IDA|GO:0043141;ATP-dependent 5'-3' DNA helicase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HELB	https://www.uniprot.org/uniprot/Q8NG08		https://www.ncbi.nlm.nih.gov/omim/?term=614539	http://www.informatics.jax.org/searchtool/Search.do?query=HELB&submit=Quick%0D%6017ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HELB	rs1168312	0.173722	0.1595	0.2101	0.23	3	13	exonic	exonic	exonic	HELB	HELB	ENSG00000127311	nonsynonymous SNV	nonsynonymous SNV	unknown	HELB:NM_033647:exon12:c.C2939T:p.T980I,	HELB:uc001sti.3:exon12:c.C2939T:p.T980I,	UNKNOWN	Het;C>T	2122;132|97	Ref		Hom;C>T	5667;2|214
12_78.016_106.016	Chr12:64973018-92996828	1.299	12	71523134	71523134	A	C	snp	nonsynonymous SNV	T637G	S213A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	TSPAN8	Tspan8	ENSG00000127324	tetraspanin 8	chr12:71518865-71835678	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]	Type 2 diabetes|reduced prostate cancer risk; schizophrenia | bipolar disorder; type 2 diabetes; obesity; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Posttransplantation diabetes mellitus (PTDM); Cardiovascular Diseases; Macular Degeneration; diabetes, type 2; Diabetes Mellitus, Type 2|; latent autoimmune diabetes; Diabetes Mellitus, Type 2; Creutzfeldt-Jakob Syndrome; Tobacco Use Disorder; Arthritis, Rheumatoid|Crohn Disease|Crohn's disease|Diabetes mellitus|Disease|Rheumatoid Arthritis; Type 2 diabetes	 		GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030195;negative regulation of blood coagulation;IEA	GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005178;integrin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN8	https://www.uniprot.org/uniprot/P19075		https://www.ncbi.nlm.nih.gov/omim/?term=600769	http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN8&submit=Quick%0D%6020ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN8	rs1051334	0.250799	0.3355	0.3449	0.23	3	13	exonic	exonic	exonic	TSPAN8	TSPAN8	ENSG00000127324	nonsynonymous SNV	nonsynonymous SNV	unknown	TSPAN8:NM_004616:exon8:c.T637G:p.S213A,	TSPAN8:uc009zrt.1:exon7:c.T637G:p.S213A,TSPAN8:uc001swk.1:exon11:c.T637G:p.S213A,TSPAN8:uc001swj.1:exon8:c.T637G:p.S213A,	UNKNOWN	Het;A>C	400;32|24	Ref		Hom;A>C	1880;0|71
12_78.016_106.016	Chr12:64973018-92996828	1.299	12	71533534	71533534	C	G	snp	nonsynonymous SNV	G218C	G73A	aliphatic,neutral	aliphatic,hydrophobic,neutral	TSPAN8	Tspan8	ENSG00000127324	tetraspanin 8	chr12:71518865-71835678	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]	Type 2 diabetes|reduced prostate cancer risk; schizophrenia | bipolar disorder; type 2 diabetes; obesity; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Posttransplantation diabetes mellitus (PTDM); Cardiovascular Diseases; Macular Degeneration; diabetes, type 2; Diabetes Mellitus, Type 2|; latent autoimmune diabetes; Diabetes Mellitus, Type 2; Creutzfeldt-Jakob Syndrome; Tobacco Use Disorder; Arthritis, Rheumatoid|Crohn Disease|Crohn's disease|Diabetes mellitus|Disease|Rheumatoid Arthritis; Type 2 diabetes	 		GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030195;negative regulation of blood coagulation;IEA	GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005178;integrin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN8	https://www.uniprot.org/uniprot/P19075		https://www.ncbi.nlm.nih.gov/omim/?term=600769	http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN8&submit=Quick%0D%6020ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN8	rs3763978	0.227037	0.3082	0.3332	0.85	11	13	exonic	exonic	exonic	TSPAN8	TSPAN8	ENSG00000127324	nonsynonymous SNV	nonsynonymous SNV	unknown	TSPAN8:NM_004616:exon4:c.G218C:p.G73A,	TSPAN8:uc009zrt.1:exon3:c.G218C:p.G73A,TSPAN8:uc001swk.1:exon7:c.G218C:p.G73A,TSPAN8:uc001swj.1:exon4:c.G218C:p.G73A,	UNKNOWN	Het;C>G	1127;99|52	Ref		Hom;C>G	3385;2|123
12_78.016_106.016	Chr12:64973018-92996828	1.299	12	72057375	72057375	T	C	snp	nonsynonymous SNV	A16G	T6A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	ZFC3H1	Zfc3h1	ENSG00000133858	zinc finger C3H1-type containing	chr12:72003252-72061505		Coronary Artery Disease; Lipoproteins	 		GO:0006396;RNA processing;IEA	GO:0005615;extracellular space;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFC3H1	https://www.uniprot.org/uniprot/O60293			http://www.informatics.jax.org/searchtool/Search.do?query=ZFC3H1&submit=Quick%0D%6878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFC3H1	rs368259965	0.00159744	8e-05	0.0009	0.00	0	13	exonic	exonic	exonic	ZFC3H1	ZFC3H1	ENSG00000133858	nonsynonymous SNV	nonsynonymous SNV	unknown	ZFC3H1:NM_144982:exon1:c.A16G:p.T6A,	ZFC3H1:uc001swp.3:exon1:c.A16G:p.T6A,ZFC3H1:uc001swo.2:exon1:c.A16G:p.T6A,ZFC3H1:uc010sts.2:exon1:c.A16G:p.T6A,	UNKNOWN	Het;T>C	1161;52|50	Ref		Hom;T>C	2379;0|87
12_78.016_106.016	Chr12:64973018-92996828	1.299	12	75900382	75900382	C	T	snp	nonsynonymous SNV	G401A	R134Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	KRR1	Krr1	ENSG00000111615	KRR1, small subunit processome component homolog	chr12:75890684-75905416		monocyte chemoattractant protein 1 (66-77); Type 2 Diabetes| edema | rosiglitazone	 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0045171;intercellular bridge;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRR1	https://www.uniprot.org/uniprot/Q13601		https://www.ncbi.nlm.nih.gov/omim/?term=612817	http://www.informatics.jax.org/searchtool/Search.do?query=KRR1&submit=Quick%0D%4093ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRR1	rs11540407	0.232029	0.2327	0.2540	0.77	10	13	exonic	exonic	exonic	KRR1	KRR1	ENSG00000111615	nonsynonymous SNV	nonsynonymous SNV	unknown	KRR1:NM_007043:exon4:c.G401A:p.R134Q,	KRR1:uc009zsc.3:exon4:c.G401A:p.R134Q,KRR1:uc010stx.2:exon4:c.G401A:p.R134Q,KRR1:uc001sxt.3:exon4:c.G401A:p.R134Q,	UNKNOWN	Het;C>T	204;13|11	Ref		Hom;C>T	640;0|23
12_78.016_106.016	Chr12:64973018-92996828	1.299	12	80752660	80752660	A	G	snp	nonsynonymous SNV	A6220G	I2074V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OTOGL	Otogl	ENSG00000165899	otogelin like	chr12:80603233-80772870	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]	Moderate Sensorineural Hearing Loss	 		GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0046556;alpha-L-arabinofuranosidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OTOGL		https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614925	http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL	rs2034528	0.964457	0.9358	0.9400	0.15	2	13	exonic	exonic	exonic	OTOGL	OTOGL	ENSG00000165899	nonsynonymous SNV	nonsynonymous SNV	unknown	OTOGL:NM_173591:exon51:c.A6220G:p.I2074V,	OTOGL:uc001szd.3:exon51:c.A6220G:p.I2074V,OTOGL:uc021rba.1:exon5:c.A277G:p.I93V,	UNKNOWN	Het;A>G	249;11|11	Het;A>G	462;15|17	Hom;A>G	678;0|23
12_78.016_106.016	Chr12:64973018-92996828	1.299	12	80904143	80904143	T	C	snp	nonsynonymous SNV	T2083C	S695P	polar,hydrophilic,neutral	hydrophobic,neutral	PTPRQ	Ptprq	ENSG00000139304	protein tyrosine phosphatase, receptor type Q	chr12:80799774-81072802	This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014]	Erythrocyte Indices; Electrocardiography; Uric Acid; Bipolar Disorder; Tobacco Use Disorder; Exercise Test	Homozygotes for targeted mutations show absence of shaft connectors from vestibular hair bundles, postnatal degeneration in cochlear hair-bundle structure, reduced transducer currents but otherwise normal adaptation properties, a progressive loss of basal-coil cochlear hair cells, and deafness.		GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0007155;cell adhesion;IEA|GO:0016311;dephosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060116;vestibular receptor cell morphogenesis;IEA	GO:0005578;proteinaceous extracellular matrix;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032421;stereocilium bundle;IEA	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTPRQ	https://www.uniprot.org/uniprot/Q9UMZ3	https://hpo.jax.org/app/browse/search?q=PTPRQ&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603317	http://www.informatics.jax.org/searchtool/Search.do?query=PTPRQ&submit=Quick%0D%7868ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRQ	rs143156047	0.00119808	0.0024	0.0022	0.75	6	8	exonic	exonic	exonic	PTPRQ	PTPRQ	ENSG00000139304	nonsynonymous SNV	nonsynonymous SNV	unknown	PTPRQ:NM_001145026:exon14:c.T2083C:p.S695P,	PTPRQ:uc001sze.2:exon14:c.T2083C:p.S695P,	UNKNOWN	Het;T>C	1719;91|80	Ref		Hom;T>C	7432;0|285
12_78.016_106.016	Chr12:64973018-92996828	1.299	12	88440676	88440676	G	C	snp	nonsynonymous SNV	G712C	V238L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	C12orf29	4930430F08Rik	ENSG00000133641	chromosome 12 open reading frame 29	chr12:88427623-88443937			 		GO:0002244;hematopoietic progenitor cell differentiation;IEA			http://www.genecards.org/index.php?path=/Search/keyword/C12orf29	https://www.uniprot.org/uniprot/Q8N999			http://www.informatics.jax.org/searchtool/Search.do?query=C12orf29&submit=Quick%0D%6854ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf29	rs9262	0.510583	0.4692	0.5827	0.08	1	13	exonic	exonic	exonic	C12orf29	C12orf29	ENSG00000133641	nonsynonymous SNV	nonsynonymous SNV	unknown	C12orf29:NM_001009894:exon6:c.G712C:p.V238L,	C12orf29:uc001tao.3:exon6:c.G712C:p.V238L,	UNKNOWN	Het;G>C	1429;75|65	Ref		Hom;G>C	8260;0|299
12_78.016_106.016	Chr12:64973018-92996828	1.299	12	89745477	89745477	C	A	snp	nonsynonymous SNV	G340T	V114L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DUSP6	Dusp6	ENSG00000139318	dual specificity phosphatase 6	chr12:89741009-89747048	The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]	Atrial Fibrillation; affective disorder; Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic; Bipolar Disorder; longevity	Mice homozygous or heterozygous for a null mutation display partial penetrance of postnatal lethality, reduced body weight, and abnormal growth plate morphology.	Negative regulation of MAPK pathway	GO:0000165;MAPK cascade;TAS|GO:0000187;activation of MAPK activity;TAS|GO:0000188;inactivation of MAPK activity;IDA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0009953;dorsal/ventral pattern formation;IBA|GO:0010033;response to organic substance;IEA|GO:0010942;positive regulation of cell death;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016311;dephosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IDA|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;IBA|GO:0042493;response to drug;IEA|GO:0042663;regulation of endodermal cell fate specification;IBA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0051409;response to nitrosative stress;IEP|GO:0060420;regulation of heart growth;IBA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP|GO:0070848;response to growth factor;IEA	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0017017;MAP kinase tyrosine/serine/threonine phosphatase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DUSP6	https://www.uniprot.org/uniprot/Q16828	https://hpo.jax.org/app/browse/search?q=DUSP6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602748	http://www.informatics.jax.org/searchtool/Search.do?query=DUSP6&submit=Quick%0D%7869ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DUSP6	rs2279574	0.466254	0.4316	0.5378	0.46	6	13	exonic	exonic	exonic	DUSP6	DUSP6	ENSG00000139318	nonsynonymous SNV	nonsynonymous SNV	unknown	DUSP6:NM_022652:exon1:c.G340T:p.V114L,DUSP6:NM_001946:exon1:c.G340T:p.V114L,	DUSP6:uc001taz.3:exon1:c.G340T:p.V114L,DUSP6:uc001tay.3:exon1:c.G340T:p.V114L,	UNKNOWN	Het;C>A	632;30|29	Het;C>A	390;24|20	Hom;C>A	1428;0|51
N	N	-	13	25367282	25367282	A	C	snp	nonsynonymous SNV	A855C	K285N	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	RNF17	Rnf17	ENSG00000132972	ring finger protein 17	chr13:25338290-25454059	This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]	Hemoglobin A, Glycosylated; Diabetic Nephropathies	Homozygous null mice display male infertility, azoospermia, arrest of spermatogenesis, and small testis.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF17	https://www.uniprot.org/uniprot/Q9BXT8		https://www.ncbi.nlm.nih.gov/omim/?term=605793	http://www.informatics.jax.org/searchtool/Search.do?query=RNF17&submit=Quick%0D%6775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF17	rs1451568	0.157348	0.2153	0.1499	0.08	1	13	exonic	exonic	exonic	RNF17	RNF17	ENSG00000132972	nonsynonymous SNV	nonsynonymous SNV	unknown	RNF17:NM_031277:exon10:c.A1038C:p.K346N,RNF17:NM_001184993:exon10:c.A1038C:p.K346N,	RNF17:uc001ups.3:exon10:c.A855C:p.K285N,RNF17:uc010tde.2:exon10:c.A1038C:p.K346N,RNF17:uc001upq.1:exon10:c.A1038C:p.K346N,RNF17:uc010tdd.1:exon9:c.A615C:p.K205N,RNF17:uc001upr.3:exon10:c.A1038C:p.K346N,	UNKNOWN	Het;A>C	665;16|26	Ref		Hom;A>C	2430;0|94
N	N	-	13	25831888	25831888	T	C	snp	nonsynonymous SNV	A955G	I319V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MTMR6	Mtmr6	ENSG00000139505	myotubularin related protein 6	chr13:25802307-25862147			 	Synthesis of PIPs at the plasma membrane	GO:0006470;protein dephosphorylation;NAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0004438;phosphatidylinositol-3-phosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;NAS|GO:0004725;protein tyrosine phosphatase activity;NAS|GO:0005515;protein binding;IPI|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0052629;phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;TAS|GO:0052866;phosphatidylinositol phosphate phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MTMR6	https://www.uniprot.org/uniprot/Q9Y217		https://www.ncbi.nlm.nih.gov/omim/?term=603561	http://www.informatics.jax.org/searchtool/Search.do?query=MTMR6&submit=Quick%0D%7891ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTMR6	rs7995033	0.492212	0.6352	0.6992	0.38	5	13	exonic	exonic	exonic	MTMR6	MTMR6	ENSG00000139505	nonsynonymous SNV	nonsynonymous SNV	unknown	MTMR6:NM_004685:exon8:c.A955G:p.I319V,	MTMR6:uc001uqf.4:exon8:c.A955G:p.I319V,MTMR6:uc021rhi.1:exon3:c.A337G:p.I113V,MTMR6:uc001uqe.1:exon8:c.A955G:p.I319V,	UNKNOWN	Het;T>C	852;43|41	Het;T>C	927;62|46	Hom;T>C	3247;1|123
N	N	-	13	31231806	31231806	T	C	snp	nonsynonymous SNV	T1592C	L531S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	USPL1	Uspl1	ENSG00000132952	ubiquitin specific peptidase like 1	chr13:31191830-31233686			 		GO:0006508;proteolysis;IEA|GO:0008283;cell proliferation;IMP|GO:0016926;protein desumoylation;IDA|GO:0030576;Cajal body organization;IMP	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0015030;Cajal body;IDA	GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0032183;SUMO binding;IDA|GO:0070140;SUMO-specific isopeptidase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USPL1	https://www.uniprot.org/uniprot/Q5W0Q7		https://www.ncbi.nlm.nih.gov/omim/?term=617470	http://www.informatics.jax.org/searchtool/Search.do?query=USPL1&submit=Quick%0D%6768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USPL1	rs7984952	0.478634	0.5341	0.4197	0.15	2	13	exonic	exonic	exonic	USPL1	USPL1	ENSG00000132952	nonsynonymous SNV	nonsynonymous SNV	unknown	USPL1:NM_005800:exon9:c.T1592C:p.L531S,	USPL1:uc001utc.2:exon9:c.T1592C:p.L531S,USPL1:uc001ute.1:exon6:c.T605C:p.L202S,USPL1:uc001utd.2:exon7:c.T605C:p.L202S,	UNKNOWN	Het;T>C	1437;88|62	Het;T>C	1286;56|53	Hom;T>C	5659;0|190
N	N	-	13	31233063	31233063	G	A	snp	nonsynonymous SNV	G2849A	S950N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	USPL1	Uspl1	ENSG00000132952	ubiquitin specific peptidase like 1	chr13:31191830-31233686			 		GO:0006508;proteolysis;IEA|GO:0008283;cell proliferation;IMP|GO:0016926;protein desumoylation;IDA|GO:0030576;Cajal body organization;IMP	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0015030;Cajal body;IDA	GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0032183;SUMO binding;IDA|GO:0070140;SUMO-specific isopeptidase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USPL1	https://www.uniprot.org/uniprot/Q5W0Q7		https://www.ncbi.nlm.nih.gov/omim/?term=617470	http://www.informatics.jax.org/searchtool/Search.do?query=USPL1&submit=Quick%0D%6768ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USPL1	rs3742302	0.474641	0.5310	0.4178	0.23	3	13	exonic	exonic	exonic	USPL1	USPL1	ENSG00000132952	nonsynonymous SNV	nonsynonymous SNV	unknown	USPL1:NM_005800:exon9:c.G2849A:p.S950N,	USPL1:uc001utc.2:exon9:c.G2849A:p.S950N,USPL1:uc001ute.1:exon6:c.G1862A:p.S621N,USPL1:uc001utd.2:exon7:c.G1862A:p.S621N,	UNKNOWN	Het;G>A	989;84|45	Het;G>A	1050;49|48	Hom;G>A	3038;0|107
N	N	-	13	31891746	31891746	G	A	snp	nonsynonymous SNV	G1108A	E370K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	B3GALTL	 																	rs1041073	0.666733	0.6554	0.7425	0.46	6	13	exonic	exonic	exonic	B3GALTL	B3GALTL	ENSG00000187676	nonsynonymous SNV	nonsynonymous SNV	unknown	B3GALTL:NM_194318:exon13:c.G1108A:p.E370K,	B3GALTL:uc010aaz.3:exon13:c.G1108A:p.E370K,	UNKNOWN	Het;G>A	1333;32|58	Het;G>A	602;34|31	Hom;G>A	2585;0|99
N	N	-	13	32811607	32811607	G	A	snp	nonsynonymous SNV	G5902A	G1968S	aliphatic,neutral	polar,hydrophilic,neutral	FRY	Fry	ENSG00000073910	FRY microtubule binding protein	chr13:32605437-32870794		Thyrotropin; Tobacco Use Disorder; Body Fat Distribution; benzene haematotoxicity; Fibrinogen	 		GO:0000902;cell morphogenesis;IBA|GO:0031175;neuron projection development;IBA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0090527;actin filament reorganization;IBA|GO:1904428;negative regulation of tubulin deacetylation;IEA	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IBA|GO:0030427;site of polarized growth;IBA	GO:0004857;enzyme inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FRY	https://www.uniprot.org/uniprot/Q5TBA9		https://www.ncbi.nlm.nih.gov/omim/?term=614818	http://www.informatics.jax.org/searchtool/Search.do?query=FRY&submit=Quick%0D%1486ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRY	rs2806639	0.215855	0.3159	0.2811	0.40	4	10	exonic	exonic	exonic	FRY	FRY	ENSG00000073910	nonsynonymous SNV	nonsynonymous SNV	unknown	FRY:NM_023037:exon44:c.G5902A:p.G1968S,	FRY:uc001utx.3:exon44:c.G5902A:p.G1968S,FRY:uc010tdw.3:exon44:c.G2080A:p.G694S,	UNKNOWN	Het;G>A	3135;94|129	Het;G>A	1992;79|96	Hom;G>A	5126;0|191
N	N	-	13	36801415	36801415	C	T	snp	nonsynonymous SNV	G343A	G115R	aliphatic,neutral	polar,hydrophilic,charged(+)	CCDC169	Ccdc169	ENSG00000242715	coiled-coil domain containing 169	chr13:36801182-36871977			 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC169				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC169&submit=Quick%0D%19741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC169	rs9546785	0.377596	0.4120	0.4436	0.36	4	11	exonic	exonic	exonic	CCDC169	CCDC169	ENSG00000242715	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC169:NM_001144984:exon6:c.G349A:p.G117R,CCDC169:NM_001198908:exon8:c.G649A:p.G217R,CCDC169:NM_001144982:exon7:c.G343A:p.G115R,CCDC169:NM_001144983:exon7:c.G343A:p.G115R,	CCDC169:uc010tej.2:exon7:c.G343A:p.G115R,CCDC169:uc010tek.2:exon7:c.G343A:p.G115R,CCDC169:uc010tem.2:exon8:c.G649A:p.G217R,CCDC169:uc010tel.2:exon6:c.G349A:p.G117R,	UNKNOWN	Het;C>T	832;35|37	Het;C>T	1022;32|49	Hom;C>T	1829;2|70
N	N	-	13	36828237	36828237	T	C	snp	nonsynonymous SNV	A53G	K18R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	CCDC169	Ccdc169	ENSG00000242715	coiled-coil domain containing 169	chr13:36801182-36871977			 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC169				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC169&submit=Quick%0D%19741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC169	rs9546897	0.375799	0	0.4461	0.15	2	13	exonic	exonic	exonic	CCDC169,CCDC169-SOHLH2	CCDC169,CCDC169-SOHLH2	ENSG00000120669,ENSG00000242715,ENSG00000250709	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC169:NM_001144981:exon5:c.A359G:p.K120R,CCDC169:NM_001144984:exon3:c.A59G:p.K20R,CCDC169:NM_001198908:exon5:c.A359G:p.K120R,CCDC169:NM_001144985:exon4:c.A53G:p.K18R,CCDC169:NM_001144986:exon4:c.A53G:p.K18R,CCDC169:NM_001144982:exon4:c.A53G:p.K18R,CCDC169-SOHLH2:NM_001198910:exon3:c.A59G:p.K20R,CCDC169:NM_001144983:exon4:c.A53G:p.K18R,	CCDC169:uc010abn.3:exon4:c.A53G:p.K18R,CCDC169:uc010abm.3:exon5:c.A359G:p.K120R,CCDC169:uc010tej.2:exon4:c.A53G:p.K18R,CCDC169-SOHLH2:uc010tei.2:exon3:c.A59G:p.K20R,CCDC169:uc010tek.2:exon4:c.A53G:p.K18R,CCDC169:uc010abo.3:exon4:c.A53G:p.K18R,CCDC169:uc010tem.2:exon5:c.A359G:p.K120R,CCDC169:uc010tel.2:exon3:c.A59G:p.K20R,	UNKNOWN	Het;T>C	598;40|32	Het;T>C	478;29|26	Hom;T>C	1358;2|54
N	N	-	13	40229891	40229891	G	A	snp	nonsynonymous SNV	G28A	A10T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	COG6	Cog6	ENSG00000133103	component of oligomeric golgi complex 6	chr13:40229764-40365802	This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]	psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron	 	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COG6	https://www.uniprot.org/uniprot/Q9Y2V7	https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606977	http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6	rs3812882	0.484425	0.4381	0.5648	0.08	1	13	exonic	exonic	exonic	COG6	COG6	ENSG00000133103	nonsynonymous SNV	nonsynonymous SNV	unknown	COG6:NM_001145079:exon1:c.G28A:p.A10T,COG6:NM_020751:exon1:c.G28A:p.A10T,	COG6:uc010acb.2:exon1:c.G28A:p.A10T,COG6:uc001uxh.2:exon1:c.G28A:p.A10T,	UNKNOWN	Het;G>A	966;33|44	Het;G>A	987;45|47	Hom;G>A	2359;0|85
N	N	-	13	40229957	40229957	T	A	snp	nonsynonymous SNV	T94A	C32S	polar,hydrophobic,neutral	polar,hydrophilic,neutral	COG6	Cog6	ENSG00000133103	component of oligomeric golgi complex 6	chr13:40229764-40365802	This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]	psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron	 	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COG6	https://www.uniprot.org/uniprot/Q9Y2V7	https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606977	http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6	rs3812883	0.484225	0.4161	0.5132	0.08	1	13	exonic	exonic	exonic	COG6	COG6	ENSG00000133103	nonsynonymous SNV	nonsynonymous SNV	unknown	COG6:NM_001145079:exon1:c.T94A:p.C32S,COG6:NM_020751:exon1:c.T94A:p.C32S,	COG6:uc010acb.2:exon1:c.T94A:p.C32S,COG6:uc001uxh.2:exon1:c.T94A:p.C32S,	UNKNOWN	Het;T>A	1455;68|65	Het;T>A	1660;78|75	Hom;T>A	3471;0|130
N	N	-	13	44457925	44457925	A	G	snp	nonsynonymous SNV	A760G	I254V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LACC1	Lacc1	ENSG00000179630	laccase domain containing 1	chr13:44453420-44468068		Crohn Disease; Crohn Disease|Crohn's disease; Heart Failure; Leprosy, Multibacillary|Leprosy, Paucibacillary; leprosy; Behcet Syndrome; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Colitis, Ulcerative|Crohn Disease|; Leprosy; kidney aging	Mice homozygous for a knock-out allele exhibit decreased fatty acid oxidation and glycolysis in macrophages and increased susceptibility to LPS-induced endotoxin shock.			GO:0005777;peroxisome;IDA	GO:0005507;copper ion binding;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LACC1		https://hpo.jax.org/app/browse/search?q=LACC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613409	http://www.informatics.jax.org/searchtool/Search.do?query=LACC1&submit=Quick%0D%14367ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LACC1	rs3764147	0.305911	0.2520	0.2702	0.08	1	13	exonic	exonic	exonic	LACC1	LACC1	ENSG00000179630	nonsynonymous SNV	nonsynonymous SNV	unknown	LACC1:NM_153218:exon4:c.A760G:p.I254V,LACC1:NM_001128303:exon4:c.A760G:p.I254V,	LACC1:uc010acg.3:exon4:c.A760G:p.I254V,LACC1:uc001uzf.4:exon4:c.A760G:p.I254V,	UNKNOWN	Het;A>G	633;39|29	Het;A>G	556;55|31	Hom;A>G	2240;0|82
N	N	-	13	53217270	53217270	A	G	snp	nonsynonymous SNV	A643G	N215D	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	HNRNPA1L2	Gm5803	ENSG00000139675	heterogeneous nuclear ribonucleoprotein A1-like 2	chr13:53191605-53217919			 		GO:0006397;mRNA processing;IEA|GO:0006810;transport;IEA|GO:0008380;RNA splicing;IEA|GO:0051028;mRNA transport;IEA	GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IEA|GO:0005737;cytoplasm;IEA|GO:0019013;viral nucleocapsid;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HNRNPA1L2	https://www.uniprot.org/uniprot/Q32P51			http://www.informatics.jax.org/searchtool/Search.do?query=HNRNPA1L2&submit=Quick%0D%7924ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HNRNPA1L2	rs9536212	0.271166	0.3112	0.3603	0.33	4	12	exonic	exonic	exonic	HNRNPA1L2	HNRNPA1L2	ENSG00000139675	nonsynonymous SNV	nonsynonymous SNV	unknown	HNRNPA1L2:NM_001011724:exon7:c.A643G:p.N215D,HNRNPA1L2:NM_001011725:exon6:c.A643G:p.N215D,	HNRNPA1L2:uc001vgz.1:exon5:c.A643G:p.N215D,HNRNPA1L2:uc001vgy.1:exon6:c.A643G:p.N215D,HNRNPA1L2:uc001vgx.1:exon7:c.A643G:p.N215D,HNRNPA1L2:uc021rjy.1:exon1:c.A643G:p.N215D,	UNKNOWN	Het;A>G	823;41|38	Het;A>G	442;21|18	Hom;A>G	1250;2|47
N	N	-	13	99376181	99376181	C	T	snp	nonsynonymous SNV	G350A	S117N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SLC15A1	Slc15a1	ENSG00000088386	solute carrier family 15 member 1	chr13:99336055-99404908	This gene encodes an intestinal hydrogen peptide cotransporter that is a member of the solute carrier family 15. The encoded protein is localized to the brush border membrane of the intestinal epithelium and mediates the uptake of di- and tripeptides from the lumen into the enterocytes. This protein plays an important role in the uptake and digestion of dietary proteins. This protein also facilitates the absorption of numerous peptidomimetic drugs. [provided by RefSeq, Apr 2010]	Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; Tobacco Use Disorder; inflammatory bowel disease ; Hyperparathyroidism, Secondary	Peptide uptake in the intestine is substantially reduced in mice homozygous for a null mutation of this gene.	Proton/oligopeptide cotransporters	GO:0006810;transport;TAS|GO:0006811;ion transport;TAS|GO:0006857;oligopeptide transport;IEA|GO:0007586;digestion;TAS|GO:0015031;protein transport;IEA|GO:0015833;peptide transport;IEA|GO:0015992;proton transport;IEA|GO:0035672;oligopeptide transmembrane transport;IEA|GO:0042938;dipeptide transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005903;brush border;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0005427;proton-dependent oligopeptide secondary active transmembrane transporter activity;IEA|GO:0015198;oligopeptide transporter activity;IEA|GO:0015252;hydrogen ion channel activity;IEA|GO:0015293;symporter activity;IEA|GO:0015333;peptide:proton symporter activity;TAS|GO:0042936;dipeptide transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC15A1	https://www.uniprot.org/uniprot/P46059		https://www.ncbi.nlm.nih.gov/omim/?term=600544	http://www.informatics.jax.org/searchtool/Search.do?query=SLC15A1&submit=Quick%0D%2000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC15A1	rs2297322	0.308506	0.1739	0.2138	0.15	2	13	exonic	exonic	exonic	SLC15A1	SLC15A1	ENSG00000088386	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC15A1:NM_005073:exon5:c.G350A:p.S117N,	SLC15A1:uc001vno.3:exon5:c.G350A:p.S117N,SLC15A1:uc001vnp.1:exon3:c.G254A:p.S85N,	UNKNOWN	Het;C>T	705;71|41	Het;C>T	678;34|31	Hom;C>T	2392;2|91
N	N	-	14	105405599	105405599	G	C	snp	nonsynonymous SNV	C1183G	P395A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs3742935	0.555112	0.5843	0.5452	0.58	7	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C16189G:p.P5397A,	AHNAK2:uc021seo.1:exon3:c.C1183G:p.P395A,AHNAK2:uc021sen.1:exon1:c.C2380G:p.P794A,AHNAK2:uc001ypx.2:exon7:c.C15889G:p.P5297A,AHNAK2:uc010axc.1:exon7:c.C16189G:p.P5397A,	UNKNOWN	Het;G>C	2014;118|94	Ref		Hom;G>C	3661;2|130
N	N	-	14	105406238	105406238	A	C	snp	nonsynonymous SNV	T544G	Y182D	aromatic,polar,hydrophobic	polar,hydrophilic,charged(-)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2819419	0.590855	0.6109	0.5535	0.08	1	13	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T15550G:p.Y5184D,	AHNAK2:uc021seo.1:exon3:c.T544G:p.Y182D,AHNAK2:uc021sen.1:exon1:c.T1741G:p.Y581D,AHNAK2:uc001ypx.2:exon7:c.T15250G:p.Y5084D,AHNAK2:uc010axc.1:exon7:c.T15550G:p.Y5184D,	UNKNOWN	Het;A>C	2896;95|121	Ref		Hom;A>C	4608;0|162
N	N	-	14	105406372	105406372	C	T	snp	nonsynonymous SNV	G410A	G137E	aliphatic,neutral	polar,hydrophilic,charged(-)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs61421370	0.293131	0.4265	0.4138	0.17	2	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G15416A:p.G5139E,	AHNAK2:uc021seo.1:exon3:c.G410A:p.G137E,AHNAK2:uc021sen.1:exon1:c.G1607A:p.G536E,AHNAK2:uc001ypx.2:exon7:c.G15116A:p.G5039E,AHNAK2:uc010axc.1:exon7:c.G15416A:p.G5139E,	UNKNOWN	Het;C>T	2169;59|85	Ref		Hom;C>T	3220;1|114
N	N	-	14	105407798	105407798	T	C	snp	nonsynonymous SNV	A181G	T61A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs4465542	0.555112	0.5832	0.5458	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A13990G:p.T4664A,	AHNAK2:uc021sen.1:exon1:c.A181G:p.T61A,AHNAK2:uc001ypx.2:exon7:c.A13690G:p.T4564A,AHNAK2:uc010axc.1:exon7:c.A13990G:p.T4664A,	UNKNOWN	Het;T>C	1498;78|67	Ref		Hom;T>C	3072;0|105
N	N	-	14	105408182	105408182	T	G	snp	nonsynonymous SNV	A13306C	M4436L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs9672139	0.527556	0.5551	0.5146	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A13606C:p.M4536L,	AHNAK2:uc001ypx.2:exon7:c.A13306C:p.M4436L,AHNAK2:uc010axc.1:exon7:c.A13606C:p.M4536L,	UNKNOWN	Het;T>G	560;16|23	Ref		Hom;T>G	977;0|35
N	N	-	14	105408811	105408811	A	G	snp	nonsynonymous SNV	T12677C	L4226P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2819421	0.555112	0.5822	0.5436	0.08	1	13	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T12977C:p.L4326P,	AHNAK2:uc001ypx.2:exon7:c.T12677C:p.L4226P,AHNAK2:uc010axc.1:exon7:c.T12977C:p.L4326P,	UNKNOWN	Het;A>G	548;12|22	Ref		Hom;A>G	1050;0|39
N	N	-	14	105408827	105408827	A	C	snp	nonsynonymous SNV	T12661G	L4221V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs11850949	0.530751	0.5617	0.5389	0.15	2	13	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T12961G:p.L4321V,	AHNAK2:uc001ypx.2:exon7:c.T12661G:p.L4221V,AHNAK2:uc010axc.1:exon7:c.T12961G:p.L4321V,	UNKNOWN	Het;A>C	771;11|29	Ref		Hom;A>C	1152;0|40
N	N	-	14	105408955	105408955	A	G	snp	nonsynonymous SNV	T12533C	V4178A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2819422	0.580671	0.6048	0.5518	0.09	1	11	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T12833C:p.V4278A,	AHNAK2:uc001ypx.2:exon7:c.T12533C:p.V4178A,AHNAK2:uc010axc.1:exon7:c.T12833C:p.V4278A,	UNKNOWN	Het;A>G	1206;48|48	Ref		Hom;A>G	2740;0|100
N	N	-	14	105409907	105409907	T	C	snp	nonsynonymous SNV	A11581G	M3861V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs10141053	0.245807	0.3709	0.3986	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A11881G:p.M3961V,	AHNAK2:uc001ypx.2:exon7:c.A11581G:p.M3861V,AHNAK2:uc010axc.1:exon7:c.A11881G:p.M3961V,	UNKNOWN	Het;T>C	1014;23|43	Ref		Hom;T>C	1169;0|45
N	N	-	14	105410183	105410183	T	C	snp	nonsynonymous SNV	A11305G	M3769V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs10438246	0.555911	0.5881	0.5462	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A11605G:p.M3869V,	AHNAK2:uc001ypx.2:exon7:c.A11305G:p.M3769V,AHNAK2:uc010axc.1:exon7:c.A11605G:p.M3869V,	UNKNOWN	Het;T>C	1017;54|47	Ref		Hom;T>C	2857;0|106
N	N	-	14	105410411	105410411	C	T	snp	nonsynonymous SNV	G11077A	D3693N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs11160825	0.54972	0.5808	0.5304	0.38	5	13	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G11377A:p.D3793N,	AHNAK2:uc001ypx.2:exon7:c.G11077A:p.D3693N,AHNAK2:uc010axc.1:exon7:c.G11377A:p.D3793N,	UNKNOWN	Het;C>T	654;27|28	Ref		Hom;C>T	944;0|35
N	N	-	14	105410827	105410827	C	T	snp	nonsynonymous SNV	G10661A	G3554E	aliphatic,neutral	polar,hydrophilic,charged(-)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs28380382	0.552516	0.5851	0.5448	0.25	3	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G10961A:p.G3654E,	AHNAK2:uc001ypx.2:exon7:c.G10661A:p.G3554E,AHNAK2:uc010axc.1:exon7:c.G10961A:p.G3654E,	UNKNOWN	Het;C>T	1183;43|47	Ref		Hom;C>T	1594;0|49
N	N	-	14	105411700	105411700	A	G	snp	nonsynonymous SNV	T9788C	V3263A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs4264326	0.563498	0.5963	0.5493	0.15	2	13	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T10088C:p.V3363A,	AHNAK2:uc001ypx.2:exon7:c.T9788C:p.V3263A,AHNAK2:uc010axc.1:exon7:c.T10088C:p.V3363A,	UNKNOWN	Het;A>G	1304;30|53	Ref		Hom;A>G	2068;0|75
N	N	-	14	105411781	105411781	G	A	snp	nonsynonymous SNV	C9707T	P3236L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs10438247	0.538538	0.5795	0.5416	0.58	7	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C10007T:p.P3336L,	AHNAK2:uc001ypx.2:exon7:c.C9707T:p.P3236L,AHNAK2:uc010axc.1:exon7:c.C10007T:p.P3336L,	UNKNOWN	Het;G>A	657;21|22	Ref		Hom;G>A	1462;1|47
N	N	-	14	105412009	105412009	A	G	snp	nonsynonymous SNV	T9479C	M3160T	hydrophobic,neutral	polar,hydrophilic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs28714612	0.385184	0	0.4547	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T9779C:p.M3260T,	AHNAK2:uc001ypx.2:exon7:c.T9479C:p.M3160T,AHNAK2:uc010axc.1:exon7:c.T9779C:p.M3260T,	UNKNOWN	Het;A>G	149;37|7	Ref		Hom;A>G	107;0|3
N	N	-	14	105412541	105412541	C	T	snp	nonsynonymous SNV	G8947A	V2983I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs12433837	0.51857	0.2635	0.4508	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G9247A:p.V3083I,	AHNAK2:uc001ypx.2:exon7:c.G8947A:p.V2983I,AHNAK2:uc010axc.1:exon7:c.G9247A:p.V3083I,	UNKNOWN	Het;C>T	555;30|17	Ref		Hom;C>T	1313;0|29
N	N	-	14	105412561	105412561	C	T	snp	nonsynonymous SNV	G8927A	R2976H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs3000771	0	0	0.4952	0.17	2	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G9227A:p.R3076H,	AHNAK2:uc001ypx.2:exon7:c.G8927A:p.R2976H,AHNAK2:uc010axc.1:exon7:c.G9227A:p.R3076H,	UNKNOWN	Het;C>T	407;22|14	Ref		Hom;C>T	1250;0|26
N	N	-	14	105413204	105413204	G	T	snp	nonsynonymous SNV	C8284A	R2762S	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2582514	0.567093	0.5945	0.5477	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C8584A:p.R2862S,	AHNAK2:uc001ypx.2:exon7:c.C8284A:p.R2762S,AHNAK2:uc010axc.1:exon7:c.C8584A:p.R2862S,	UNKNOWN	Het;G>T	2116;79|61	Ref		Hom;G>T	3439;2|82
N	N	-	14	105414238	105414238	C	A	snp	nonsynonymous SNV	G7250T	G2417V	aliphatic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs60754080	0.480232	0.5507	0.5029	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G7550T:p.G2517V,	AHNAK2:uc001ypx.2:exon7:c.G7250T:p.G2417V,AHNAK2:uc010axc.1:exon7:c.G7550T:p.G2517V,	UNKNOWN	Het;C>A	919;37|26	Ref		Hom;C>A	1528;0|32
N	N	-	14	105414280	105414280	T	G	snp	nonsynonymous SNV	A7208C	E2403A	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2819429	0.843251	0.8964	0.8428	0.17	2	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A7508C:p.E2503A,	AHNAK2:uc001ypx.2:exon7:c.A7208C:p.E2403A,AHNAK2:uc010axc.1:exon7:c.A7508C:p.E2503A,	UNKNOWN	Het;T>G	857;50|37	Het;T>G	791;28|34	Hom;T>G	2025;0|68
N	N	-	14	105414629	105414629	G	A	snp	nonsynonymous SNV	C6859T	P2287S	hydrophobic,neutral	polar,hydrophilic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs72702027	0.531949	0.5632	0.5415	0.58	7	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C7159T:p.P2387S,	AHNAK2:uc001ypx.2:exon7:c.C6859T:p.P2287S,AHNAK2:uc010axc.1:exon7:c.C7159T:p.P2387S,	UNKNOWN	Het;G>A	451;22|19	Ref		Hom;G>A	1079;0|38
N	N	-	14	105414790	105414790	A	G	snp	nonsynonymous SNV	T6698C	L2233P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs2582513	0.563099	0.5847	0.5512	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.T6998C:p.L2333P,	AHNAK2:uc001ypx.2:exon7:c.T6698C:p.L2233P,AHNAK2:uc010axc.1:exon7:c.T6998C:p.L2333P,	UNKNOWN	Het;A>G	885;26|31	Ref		Hom;A>G	1100;0|34
N	N	-	14	105415229	105415229	T	C	snp	nonsynonymous SNV	A6259G	M2087V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs10134675	0.282348	0	0.4070	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A6559G:p.M2187V,	AHNAK2:uc001ypx.2:exon7:c.A6259G:p.M2087V,AHNAK2:uc010axc.1:exon7:c.A6559G:p.M2187V,	UNKNOWN	Het;T>C	252;31|12	Ref		Hom;T>C	496;0|15
N	N	-	14	105415745	105415745	C	G	snp	nonsynonymous SNV	G5743C	A1915P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs117379881	0.277157	0.4201	0.4482	0.33	4	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G6043C:p.A2015P,	AHNAK2:uc001ypx.2:exon7:c.G5743C:p.A1915P,AHNAK2:uc010axc.1:exon7:c.G6043C:p.A2015P,	UNKNOWN	Het;C>G	1220;51|34	Ref		Hom;C>G	2470;0|56
N	N	-	14	105415748	105415748	G	A	snp	nonsynonymous SNV	C5740T	P1914S	hydrophobic,neutral	polar,hydrophilic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs118171013	0.300319	0.4410	0.4598	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C6040T:p.P2014S,	AHNAK2:uc001ypx.2:exon7:c.C5740T:p.P1914S,AHNAK2:uc010axc.1:exon7:c.C6040T:p.P2014S,	UNKNOWN	Het;G>A	1220;50|34	Ref		Hom;G>A	2470;0|56
N	N	-	14	105418264	105418264	G	A	snp	nonsynonymous SNV	C3224T	A1075V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs55650155	0.382987	0.4288	0.4796	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.C3524T:p.A1175V,	AHNAK2:uc001ypx.2:exon7:c.C3224T:p.A1075V,AHNAK2:uc010axc.1:exon7:c.C3524T:p.A1175V,	UNKNOWN	Het;G>A	721;30|20	Ref		Hom;G>A	1281;0|28
N	N	-	14	105418344	105418344	T	G	snp	nonsynonymous SNV	A3144C	E1048D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs55791176	0.00179712	0.4899	0.5064	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.A3444C:p.E1148D,	AHNAK2:uc001ypx.2:exon7:c.A3144C:p.E1048D,AHNAK2:uc010axc.1:exon7:c.A3444C:p.E1148D,	UNKNOWN	Het;T>G	685;39|33	Ref		Hom;T>G	2484;0|92
N	N	-	14	105418391	105418391	C	T	snp	nonsynonymous SNV	G3097A	V1033I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AHNAK2	Ahnak2	ENSG00000185567	AHNAK nucleoprotein 2	chr14:105403581-105444694			 			GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2			https://www.ncbi.nlm.nih.gov/omim/?term=608570	http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2	rs11625007	0	0.4859	0.4752	0.08	1	12	exonic	exonic	exonic	AHNAK2	AHNAK2	ENSG00000185567	nonsynonymous SNV	nonsynonymous SNV	unknown	AHNAK2:NM_138420:exon7:c.G3397A:p.V1133I,	AHNAK2:uc001ypx.2:exon7:c.G3097A:p.V1033I,AHNAK2:uc010axc.1:exon7:c.G3397A:p.V1133I,	UNKNOWN	Het;C>T	883;36|40	Ref		Hom;C>T	2409;0|95
N	N	-	14	105617042	105617042	C	T	snp	nonsynonymous SNV	G1387A	E463K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	JAG2	Jag2	ENSG00000184916	jagged 2	chr14:105607318-105635161	The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Stroke; Cleft Lip|Cleft Palate; Cleft Lip|Cleft Palate|Ectodermal Dysplasia|Syndrome; cleft lip with cleft palate; cleft lip without cleft palate; schizophrenia	Homozygotes for a targeted null mutation die perinatally with craniofacial defects, fused digits, and increased numbers of sensory hair cells in the cochlea.  Homozygotes for a spontaneous mutation exhibit fused digits and sometimes tail kinks.	NOTCH2 Activation and Transmission of Signal to the Nucleus	GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA|GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005112;Notch binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/JAG2	https://www.uniprot.org/uniprot/Q9Y219		https://www.ncbi.nlm.nih.gov/omim/?term=602570	http://www.informatics.jax.org/searchtool/Search.do?query=JAG2&submit=Quick%0D%234ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JAG2	rs1057744	0.520168	0.6117	0.5355	0.23	3	13	exonic	exonic	exonic	JAG2	JAG2	ENSG00000184916	nonsynonymous SNV	nonsynonymous SNV	unknown	JAG2:NM_145159:exon11:c.G1387A:p.E463K,JAG2:NM_002226:exon12:c.G1501A:p.E501K,	JAG2:uc001yqh.4:exon11:c.G1387A:p.E463K,JAG2:uc001yqg.4:exon12:c.G1501A:p.E501K,	UNKNOWN	Het;C>T	1694;100|80	Het;C>T	1183;56|54	Hom;C>T	3450;0|121
N	N	-	14	20528207	20528207	G	A	snp	nonsynonymous SNV	G4A	D2N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	OR4L1	Olfr724	ENSG00000176246	olfactory receptor family 4 subfamily L member 1	chr14:20528204-20529142	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR4L1				http://www.informatics.jax.org/searchtool/Search.do?query=OR4L1&submit=Quick%0D%13829ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4L1	rs1958715	0.536741	0.4309	0.4584	0.08	1	13	exonic	exonic	exonic	OR4L1	OR4L1	ENSG00000176246	nonsynonymous SNV	nonsynonymous SNV	unknown	OR4L1:NM_001004717:exon1:c.G4A:p.D2N,	OR4L1:uc001vwn.1:exon1:c.G4A:p.D2N,	UNKNOWN	Het;G>A	662;24|30	Het;G>A	884;62|44	Hom;G>A	2953;1|110
N	N	-	14	20528321	20528321	A	G	snp	nonsynonymous SNV	A118G	M40V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR4L1	Olfr724	ENSG00000176246	olfactory receptor family 4 subfamily L member 1	chr14:20528204-20529142	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR4L1				http://www.informatics.jax.org/searchtool/Search.do?query=OR4L1&submit=Quick%0D%13829ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4L1	rs1958716	0.536741	0.4320	0.4708	0.08	1	13	exonic	exonic	exonic	OR4L1	OR4L1	ENSG00000176246	nonsynonymous SNV	nonsynonymous SNV	unknown	OR4L1:NM_001004717:exon1:c.A118G:p.M40V,	OR4L1:uc001vwn.1:exon1:c.A118G:p.M40V,	UNKNOWN	Het;A>G	666;46|30	Het;A>G	1711;97|79	Hom;A>G	4475;0|165
N	N	-	14	20528448	20528467	TCATAGATTTGCTCACTGAC	T	indel	frameshift substitution	245_264T	 	 	 	OR4L1	Olfr724	ENSG00000176246	olfactory receptor family 4 subfamily L member 1	chr14:20528204-20529142	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR4L1				http://www.informatics.jax.org/searchtool/Search.do?query=OR4L1&submit=Quick%0D%13829ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4L1	rs112192573	0.532149	0	0.4485	1	0	0	exonic	exonic	exonic	OR4L1	OR4L1	ENSG00000176246	frameshift substitution	frameshift substitution	unknown	OR4L1:NM_001004717:exon1:c.245_264T,	OR4L1:uc001vwn.1:exon1:c.245_264T,	UNKNOWN	Het;-CATAGATTTGCTCACTGAC	1270;67|37	Het;-CATAGATTTGCTCACTGAC	2198;130|66	Hom;-CATAGATTTGCTCACTGAC	5117;0|118
N	N	-	14	20666175	20666175	C	CA	indel	frameshift substitution	681_681delinsCA	 	 	 	OR11G2	Olfr744	ENSG00000196832	olfactory receptor family 11 subfamily G member 2	chr14:20665495-20666605	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]	Cholesterol, HDL	 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR11G2				http://www.informatics.jax.org/searchtool/Search.do?query=OR11G2&submit=Quick%0D%16475ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR11G2	rs398077614	0	0.6947	0.6774	1	0	0	exonic	exonic	exonic	OR11G2	OR11G2	ENSG00000196832	frameshift substitution	frameshift substitution	unknown	OR11G2:NM_001005503:exon1:c.681_681delinsCA,	OR11G2:uc010tlb.2:exon1:c.681_681delinsCA,	UNKNOWN	Het;+A	2098;128|96	Het;+A	2367;97|100	Hom;+A	6785;1|225
N	N	-	14	20852029	20852029	A	G	snp	nonsynonymous SNV	T1633C	S545P	polar,hydrophilic,neutral	hydrophobic,neutral	TEP1	Tep1	ENSG00000129566	telomerase associated protein 1	chr14:20833826-20881588	This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; lung cancer; longevity; chronic obstructive pulmonary disease; breast cancer; bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer 	Mice homozygous for a disruption in this gene show no obvious phenotype.  No changes are seen in telomerase activity or telomere length.		GO:0000722;telomere maintenance via recombination;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IEA|GO:0008380;RNA splicing;IBA	GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005694;chromosome;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA	GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0003720;telomerase activity;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IPI|GO:0070034;telomerase RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEP1	https://www.uniprot.org/uniprot/Q99973		https://www.ncbi.nlm.nih.gov/omim/?term=601686	http://www.informatics.jax.org/searchtool/Search.do?query=TEP1&submit=Quick%0D%6268ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEP1	rs1760904	0.691294	0.6134	0.5627	0.15	2	13	exonic	exonic	exonic	TEP1	TEP1	ENSG00000129566	nonsynonymous SNV	nonsynonymous SNV	unknown	TEP1:NM_007110:exon25:c.T3583C:p.S1195P,	TEP1:uc010ahk.3:exon13:c.T1633C:p.S545P,TEP1:uc010tlg.1:exon23:c.T3259C:p.S1087P,TEP1:uc001vxe.3:exon25:c.T3583C:p.S1195P,	UNKNOWN	Het;A>G	1756;80|76	Het;A>G	817;70|37	Hom;A>G	3262;0|110
N	N	-	14	20852817	20852817	G	A	snp	nonsynonymous SNV	C1213T	R405C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	TEP1	Tep1	ENSG00000129566	telomerase associated protein 1	chr14:20833826-20881588	This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]	Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; lung cancer; longevity; chronic obstructive pulmonary disease; breast cancer; bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer 	Mice homozygous for a disruption in this gene show no obvious phenotype.  No changes are seen in telomerase activity or telomere length.		GO:0000722;telomere maintenance via recombination;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IEA|GO:0008380;RNA splicing;IBA	GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005694;chromosome;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA	GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0003720;telomerase activity;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IPI|GO:0070034;telomerase RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TEP1	https://www.uniprot.org/uniprot/Q99973		https://www.ncbi.nlm.nih.gov/omim/?term=601686	http://www.informatics.jax.org/searchtool/Search.do?query=TEP1&submit=Quick%0D%6268ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEP1	rs1760903	0.633387	0.5510	0.5323	0.31	4	13	exonic	exonic	exonic	TEP1	TEP1	ENSG00000129566	nonsynonymous SNV	nonsynonymous SNV	unknown	TEP1:NM_007110:exon22:c.C3163T:p.R1055C,	TEP1:uc010ahk.3:exon10:c.C1213T:p.R405C,TEP1:uc010tlg.1:exon20:c.C2839T:p.R947C,TEP1:uc001vxe.3:exon22:c.C3163T:p.R1055C,	UNKNOWN	Het;G>A	1316;71|61	Het;G>A	826;69|37	Hom;G>A	3270;0|114
N	N	-	14	21058337	21058337	C	T	snp	UTR5;UTR3	-5704G>A	 	 	 	RNASE11	Rnase11	ENSG00000173464	ribonuclease A family member 11 (inactive)	chr14:21051054-21078043			 		GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005576;extracellular region;IEA	GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNASE11				http://www.informatics.jax.org/searchtool/Search.do?query=RNASE11&submit=Quick%0D%13363ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNASE11	rs4981259	0.392372	0	0	1	0	0	ncRNA_intronic	UTR5;UTR3	ncRNA_intronic	LOC254028	RNASE11(uc001vxs.3:c.-5704G>A);RNASE12(uc001vxt.3:c.*102G>A)	ENSG00000258573	Na	Na	Na	Na	Na	Na	Het;C>T	150;7|6	Het;C>T	122;5|5	Hom;C>T	121;0|4
N	N	-	14	21109385	21109385	C	T	snp	nonsynonymous SNV	G466A	V156I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR6S1	Olfr750	ENSG00000181803	olfactory receptor family 6 subfamily S member 1	chr14:21108855-21109850	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR6S1				http://www.informatics.jax.org/searchtool/Search.do?query=OR6S1&submit=Quick%0D%14674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6S1	rs11622969	0.448482	0.5326	0.4998	0.15	2	13	exonic	exonic	exonic	OR6S1	OR6S1	ENSG00000181803	nonsynonymous SNV	nonsynonymous SNV	unknown	OR6S1:NM_001001968:exon1:c.G466A:p.V156I,	OR6S1:uc001vxv.1:exon1:c.G466A:p.V156I,	UNKNOWN	Het;C>T	1997;80|89	Het;C>T	1725;64|76	Hom;C>T	4172;2|158
N	N	-	14	21109726	21109726	G	A	snp	nonsynonymous SNV	C125T	T42I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	OR6S1	Olfr750	ENSG00000181803	olfactory receptor family 6 subfamily S member 1	chr14:21108855-21109850	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR6S1				http://www.informatics.jax.org/searchtool/Search.do?query=OR6S1&submit=Quick%0D%14674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6S1	rs11622794	0.460264	0.5412	0.5104	0.08	1	13	exonic	exonic	exonic	OR6S1	OR6S1	ENSG00000181803	nonsynonymous SNV	nonsynonymous SNV	unknown	OR6S1:NM_001001968:exon1:c.C125T:p.T42I,	OR6S1:uc001vxv.1:exon1:c.C125T:p.T42I,	UNKNOWN	Het;G>A	1451;76|67	Het;G>A	792;55|37	Hom;G>A	2642;2|100
N	N	-	14	21360216	21360216	C	G	snp	nonsynonymous SNV	C371G	T124R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	RNASE3		ENSG00000169397	ribonuclease A family member 3	chr14:21359558-21360507	The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein exhibits antimicrobial activity against pathogenic bacteria [provided by RefSeq, Oct 2014]	Dermatitis, Atopic; schistosomiasis; allergic rhinitis; tropical pulmonary eosinophilia; asthma; Carcinoma, Squamous Cell|Embolism|Eosinophilia|Mouth Neoplasms|Neoplasm Invasiveness|Neoplasm Recurrence, Local|Squamous cell carcinoma		Antimicrobial peptides	GO:0002227;innate immune response in mucosa;IDA|GO:0006401;RNA catabolic process;TAS|GO:0019730;antimicrobial humoral response;TAS|GO:0019731;antibacterial humoral response;IDA|GO:0042742;defense response to bacterium;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0061844;antimicrobial humoral immune response mediated by antimicrobial peptide;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090501;RNA phosphodiester bond hydrolysis;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004540;ribonuclease activity;TAS|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNASE3			https://www.ncbi.nlm.nih.gov/omim/?term=131398	http://www.informatics.jax.org/searchtool/Search.do?query=RNASE3&submit=Quick%0D%12484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNASE3	rs2073342	0.640575	0.6246	0.7148	0.08	1	13	exonic	exonic	exonic	RNASE3	RNASE3	ENSG00000169397	nonsynonymous SNV	nonsynonymous SNV	unknown	RNASE3:NM_002935:exon2:c.C371G:p.T124R,	RNASE3:uc001vyj.3:exon2:c.C371G:p.T124R,RNASE3:uc021roq.1:exon1:c.C371G:p.T124R,	UNKNOWN	Het;C>G	2045;95|84	Het;C>G	1245;97|56	Hom;C>G	3474;0|124
N	N	-	14	21387994	21387994	A	G	snp	nonsynonymous SNV	A119G	Q40R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ECRP																		rs10459477	0.556909	0	0.6816	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	ECRP	ECRP	ENSG00000136315	Na	nonsynonymous SNV	Na	Na	ECRP:uc021ror.1:exon2:c.A119G:p.Q40R,	Na	Het;A>G	2534;92|98	Het;A>G	2254;91|94	Hom;A>G	5480;1|186
N	N	-	14	21388266	21388266	G	C	snp	nonsynonymous SNV	G391C	D131H	polar,hydrophilic,charged(-)	aromatic,polar,hydrophilic,charged(+)	ECRP																		rs3748340	0.557508	0	0.6813	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	ECRP	ECRP	ENSG00000136315	Na	nonsynonymous SNV	Na	Na	ECRP:uc021ror.1:exon2:c.G391C:p.D131H,	Na	Het;G>C	1736;131|78	Het;G>C	1939;109|91	Hom;G>C	6070;0|214
N	N	-	14	21770730	21770730	A	G	snp	nonsynonymous SNV	A574G	K192E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	RPGRIP1	Rpgrip1	ENSG00000092200	retinitis pigmentosa GTPase regulator interacting protein 1	chr14:21756098-21819460	This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]	Retinal Diseases; recessive cone-rod dystrophy	Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells.		GO:0007601;visual perception;IEA|GO:0042462;eye photoreceptor cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0061351;neural precursor cell proliferation;IEA	GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0042995;cell projection;IEA|GO:0097730;non-motile cilium;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RPGRIP1	https://www.uniprot.org/uniprot/Q96KN7	https://hpo.jax.org/app/browse/search?q=RPGRIP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605446	http://www.informatics.jax.org/searchtool/Search.do?query=RPGRIP1&submit=Quick%0D%2184ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPGRIP1	rs6571751	0.477236	0.4825	0.5480	0.15	2	13	exonic	exonic	exonic	RPGRIP1	RPGRIP1	ENSG00000092200	nonsynonymous SNV	nonsynonymous SNV	unknown	RPGRIP1:NM_020366:exon4:c.A574G:p.K192E,	RPGRIP1:uc001wag.3:exon4:c.A574G:p.K192E,	UNKNOWN	Het;A>G	1016;40|43	Het;A>G	716;26|31	Hom;A>G	1866;2|72
N	N	-	14	23744826	23744829	TTCC	T	indel	nonframeshift substitution	1608_1611A	 	 	 	HOMEZ	Homez	ENSG00000215271	homeobox and leucine zipper encoding	chr14:23741666-23768656			 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0003714;transcription corepressor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HOMEZ			https://www.ncbi.nlm.nih.gov/omim/?term=608119	http://www.informatics.jax.org/searchtool/Search.do?query=HOMEZ&submit=Quick%0D%18325ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HOMEZ	rs35076736	0.352037	0.3630	0.3729	1	0	0	exonic	exonic	exonic	HOMEZ	HOMEZ	ENSG00000215271	nonframeshift substitution	nonframeshift substitution	unknown	HOMEZ:NM_020834:exon2:c.1608_1611A,	HOMEZ:uc001wja.2:exon2:c.1608_1611A,HOMEZ:uc001wjb.2:exon3:c.1614_1617A,	UNKNOWN	Het;-TCC	560;37|17	Ref		Hom;-TCC	2165;1|53
N	N	-	14	24458162	24458162	G	C	snp	nonsynonymous SNV	G6C	Q2H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	DHRS4L2	Dhrs4	ENSG00000187630	dehydrogenase/reductase 4 like 2	chr14:24439148-24475617	This gene encodes a member of the short chain dehydrogenase reductase family. The encoded protein may be an NADPH dependent retinol oxidoreductase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]		Homozygous mutant mice exhibit a decreased mean serum IgG2a response to ovalbumin challenge when compared with that of controls. Female mutants exhibit an increased depressive-like response during tail suspension testing.		GO:0055114;oxidation-reduction process;IEA	GO:0005576;extracellular region;IEA	GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DHRS4L2			https://www.ncbi.nlm.nih.gov/omim/?term=615196	http://www.informatics.jax.org/searchtool/Search.do?query=DHRS4L2&submit=Quick%0D%15861ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DHRS4L2	rs2273946	0.673922	0.5159	0.4516	0.09	1	11	exonic	exonic	exonic	DHRS4L2	DHRS4L2	ENSG00000187630	nonsynonymous SNV	nonsynonymous SNV	unknown	DHRS4L2:NM_198083:exon1:c.G6C:p.Q2H,	DHRS4L2:uc001wli.4:exon1:c.G6C:p.Q2H,	UNKNOWN	Het;G>C	1450;35|59	Het;G>C	956;46|44	Hom;G>C	3058;0|110
N	N	-	14	24653954	24653954	G	A	snp	nonsynonymous SNV	C1538T	A513V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	IPO4	Ipo4	ENSG00000196497	importin 4	chr14:24649425-24658170			 		GO:0000060;protein import into nucleus, translocation;IBA|GO:0006335;DNA replication-dependent nucleosome assembly;IDA|GO:0006336;DNA replication-independent nucleosome assembly;IDA|GO:0006607;NLS-bearing protein import into nucleus;IBA|GO:0006610;ribosomal protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;NAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IBA|GO:0034399;nuclear periphery;IBA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IPO4				http://www.informatics.jax.org/searchtool/Search.do?query=IPO4&submit=Quick%0D%16381ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IPO4	rs7146310	0.317891	0.2646	0.3170	0.31	4	13	exonic	exonic	exonic	IPO4	IPO4	ENSG00000196497	nonsynonymous SNV	nonsynonymous SNV	unknown	IPO4:NM_024658:exon16:c.C1538T:p.A513V,	IPO4:uc001wmv.1:exon16:c.C1538T:p.A513V,IPO4:uc001wmu.2:exon15:c.C524T:p.A175V,IPO4:uc001wmy.1:exon15:c.C1130T:p.A377V,IPO4:uc001wmx.1:exon16:c.C1130T:p.A377V,IPO4:uc001wmz.2:exon17:c.C1538T:p.A513V,	UNKNOWN	Het;G>A	1739;68|78	Het;G>A	1244;57|60	Hom;G>A	3946;0|143
N	N	-	14	24736961	24736961	T	C	snp	nonsynonymous SNV	A1258G	T420A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	RABGGTA	Rabggta	ENSG00000100949	Rab geranylgeranyltransferase alpha subunit	chr14:24734744-24740945		Iron	Homozygotes exhibit diluted pigmentation, a platelet defect resulting in prolonged bleeding, macrothrombocytopenia, impaired killing by cytotoxic T lymphocytes, high mortality, and poor breeding.	RAB geranylgeranylation	GO:0006461;protein complex assembly;IEA|GO:0006464;cellular protein modification process;TAS|GO:0007601;visual perception;TAS|GO:0018342;protein prenylation;IEA|GO:0018344;protein geranylgeranylation;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005968;Rab-protein geranylgeranyltransferase complex;IEA	GO:0004659;prenyltransferase activity;IEA|GO:0004663;Rab geranylgeranyltransferase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0008318;protein prenyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017137;Rab GTPase binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RABGGTA	https://www.uniprot.org/uniprot/Q92696		https://www.ncbi.nlm.nih.gov/omim/?term=601905	http://www.informatics.jax.org/searchtool/Search.do?query=RABGGTA&submit=Quick%0D%2626ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RABGGTA	rs729421	0.602436	0.4807	0.4669	0.15	2	13	exonic	exonic	exonic	RABGGTA	RABGGTA	ENSG00000100949	nonsynonymous SNV	nonsynonymous SNV	unknown	RABGGTA:NM_004581:exon13:c.A1258G:p.T420A,RABGGTA:NM_182836:exon14:c.A1258G:p.T420A,	RABGGTA:uc001wof.4:exon13:c.A1258G:p.T420A,RABGGTA:uc001wog.4:exon14:c.A1258G:p.T420A,	UNKNOWN	Het;T>C	2419;87|101	Ref		Hom;T>C	5320;0|190
N	N	-	14	29261309	29261309	A	AAAC	indel	nonframeshift substitution	346_346delinsAAAC	 	 	 	C14orf23	 																	rs56025822	0.421725	0	0.4287	1	0	0	ncRNA_exonic	exonic	exonic	LINC01551	C14orf23	ENSG00000186960	Na	nonframeshift substitution	unknown	Na	C14orf23:uc001wqf.3:exon3:c.346_346delinsAAAC,	UNKNOWN	Het;+AAC	2198;49|66	Ref		Hom;+AAC	3742;2|93
N	N	-	14	33293122	33293122	A	G	snp	nonsynonymous SNV	A6103G	N2035D	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	AKAP6	Akap6	ENSG00000151320	A-kinase anchoring protein 6	chr14:32798479-33300567	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]	Asthma; Anorexia Nervosa; Narcolepsy; Body Mass Index; Coronary Artery Disease; Body Weight	Targeted disruption of this gene results in partial embryonic lethality; surviving homozygotes display a decreased body weight, craniofacial defects and reduced viability.		GO:0001508;action potential;IC|GO:0006605;protein targeting;NAS|GO:0010738;regulation of protein kinase A signaling;ISS|GO:0010880;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IC|GO:0019933;cAMP-mediated signaling;NAS|GO:0030307;positive regulation of cell growth;ISS|GO:0030818;negative regulation of cAMP biosynthetic process;ISS|GO:0032516;positive regulation of phosphoprotein phosphatase activity;ISS|GO:0051281;positive regulation of release of sequestered calcium ion into cytosol;ISS|GO:0051533;positive regulation of NFAT protein import into nucleus;ISS|GO:0060306;regulation of membrane repolarization;IDA|GO:0060316;positive regulation of ryanodine-sensitive calcium-release channel activity;ISS|GO:0061051;positive regulation of cell growth involved in cardiac muscle cell development;ISS|GO:0070886;positive regulation of calcineurin-NFAT signaling cascade;ISS|GO:0071320;cellular response to cAMP;IDA|GO:0071345;cellular response to cytokine stimulus;ISS|GO:1901381;positive regulation of potassium ion transmembrane transport;IDA|GO:1902261;positive regulation of delayed rectifier potassium channel activity;IDA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;ISS|GO:0005901;caveola;ISS|GO:0014701;junctional sarcoplasmic reticulum membrane;ISS|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030315;T-tubule;ISS|GO:0031965;nuclear membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0008179;adenylate cyclase binding;IEA|GO:0032947;protein complex scaffold;ISS|GO:0034237;protein kinase A regulatory subunit binding;ISS|GO:0043495;protein anchor;ISS|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AKAP6	https://www.uniprot.org/uniprot/Q13023		https://www.ncbi.nlm.nih.gov/omim/?term=604691	http://www.informatics.jax.org/searchtool/Search.do?query=AKAP6&submit=Quick%0D%9401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP6	rs1051695	0.710264	0.6394	0.5964	0.08	1	13	exonic	exonic	exonic	AKAP6	AKAP6	ENSG00000151320	nonsynonymous SNV	nonsynonymous SNV	unknown	AKAP6:NM_004274:exon13:c.A6103G:p.N2035D,	AKAP6:uc001wrq.3:exon13:c.A6103G:p.N2035D,	UNKNOWN	Het;A>G	732;42|31	Ref		Hom;A>G	3190;0|115
N	N	-	14	53098902	53098902	G	A	snp	nonsynonymous SNV	G790A	V264I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GPR137C	Gpr137c	ENSG00000180998	G protein-coupled receptor 137C	chr14:53019866-53104431		Heart Failure	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/GPR137C				http://www.informatics.jax.org/searchtool/Search.do?query=GPR137C&submit=Quick%0D%14561ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR137C	rs762063	0.41234	0.4543	0.4967	0.23	3	13	exonic	exonic	exonic	GPR137C	GPR137C	ENSG00000180998	nonsynonymous SNV	nonsynonymous SNV	unknown	GPR137C:NM_001099652:exon4:c.G742A:p.V248I,	GPR137C:uc001wzt.4:exon5:c.G790A:p.V264I,GPR137C:uc001wzu.4:exon4:c.G742A:p.V248I,	UNKNOWN	Het;G>A	997;63|45	Het;G>A	2991;91|132	Hom;G>A	5780;0|209
N	N	-	14	55907172	55907172	C	G	snp	nonsynonymous SNV	G92C	R31P	polar,hydrophilic,charged(+)	hydrophobic,neutral	TBPL2	Tbpl2	ENSG00000182521	TATA-box binding protein like 2	chr14:55880259-55923444		Tobacco Use Disorder; Body Height	Female mice homozygous for a knock-out allele exhibit infertility due to impaired folliculogenesis before or during secondary follicle development.		GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TBPL2			https://www.ncbi.nlm.nih.gov/omim/?term=608964	http://www.informatics.jax.org/searchtool/Search.do?query=TBPL2&submit=Quick%0D%14804ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBPL2	rs8019270	0.684704	0.6457	0.6334	0.08	1	13	exonic	exonic	exonic	TBPL2	TBPL2	ENSG00000182521	nonsynonymous SNV	nonsynonymous SNV	unknown	TBPL2:NM_199047:exon1:c.G92C:p.R31P,	TBPL2:uc001xby.3:exon1:c.G92C:p.R31P,	UNKNOWN	Het;C>G	517;41|27	Het;C>G	497;47|27	Hom;C>G	1195;1|46
N	N	-	14	60004844	60004844	C	T	snp	nonsynonymous SNV	G1520A	G507E	aliphatic,neutral	polar,hydrophilic,charged(-)	CCDC175	Ccdc175	ENSG00000151838	coiled-coil domain containing 175	chr14:59971257-60043549		Alzheimer Disease; Erythrocyte Count	 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC175	https://www.uniprot.org/uniprot/P0C221			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC175&submit=Quick%0D%9478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC175	rs4261431	0.531749	0.5072	0.5502	0.09	1	11	exonic	exonic	exonic	CCDC175	CCDC175	ENSG00000151838	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC175:NM_001164399:exon13:c.G1520A:p.G507E,	CCDC175:uc021rtw.1:exon13:c.G1520A:p.G507E,	UNKNOWN	Het;C>T	1316;87|63	Het;C>T	791;91|43	Hom;C>T	4238;2|157
N	N	-	14	60976537	60976537	C	A	snp	nonsynonymous SNV	C421A	H141N	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	SIX6	Six6	ENSG00000184302	SIX homeobox 6	chr14:60975669-60979568	The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008]	microphthalmia | coloboma; Echocardiography; anophthalmia; coloboma; microphthalmia	Mice homozygous for disruptions in this gene display retinal and pituitary hypoplasia.		GO:0001654;eye development;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007601;visual perception;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIX6		https://hpo.jax.org/app/browse/search?q=SIX6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606326	http://www.informatics.jax.org/searchtool/Search.do?query=SIX6&submit=Quick%0D%15176ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIX6	rs33912345	0.341454	0.4356	0.5153	0.46	6	13	exonic	exonic	exonic	SIX6	SIX6	ENSG00000184302	nonsynonymous SNV	nonsynonymous SNV	unknown	SIX6:NM_007374:exon1:c.C421A:p.H141N,	SIX6:uc001xfa.4:exon1:c.C421A:p.H141N,	UNKNOWN	Het;C>A	4116;154|175	Het;C>A	2160;124|101	Hom;C>A	7124;4|260
N	N	-	14	68053802	68053802	T	C	snp	nonsynonymous SNV	T40C	Y14H	aromatic,polar,hydrophobic	aromatic,polar,hydrophilic,charged(+)	PLEKHH1	Plekhh1	ENSG00000054690	pleckstrin homology, MyTH4 and FERM domain containing H1	chr14:68000018-68056329			 			GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/PLEKHH1	https://www.uniprot.org/uniprot/Q9ULM0			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHH1&submit=Quick%0D%980ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHH1	rs734028	0.555312	0.5518	0.6740	1	0	0	exonic	exonic	exonic	PLEKHH1	PLEKHH1	ENSG00000054690	synonymous SNV	nonsynonymous SNV	unknown	PLEKHH1:NM_020715:exon29:c.T3945C:p.A1315A,	PLEKHH1:uc031qpe.1:exon2:c.T40C:p.Y14H,PLEKHH1:uc010tsx.1:exon12:c.T769C:p.Y257H,	UNKNOWN	Het;T>C	2281;80|100	Het;T>C	2007;102|96	Hom;T>C	4272;2|159
N	N	-	14	69704553	69704553	G	T	snp	nonsynonymous SNV	G789T	Q263H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	EXD2	Exd2	ENSG00000081177	exonuclease 3'-5' domain containing 2	chr14:69658228-69709075		Parkinson Disease	 		GO:0000724;double-strand break repair via homologous recombination;IDA|GO:0000729;DNA double-strand break processing;IDA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006302;double-strand break repair;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA	GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IDA|GO:0008408;3'-5' exonuclease activity;IEA|GO:0008852;exodeoxyribonuclease I activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EXD2	https://www.uniprot.org/uniprot/Q9NVH0		https://www.ncbi.nlm.nih.gov/omim/?term=616940	http://www.informatics.jax.org/searchtool/Search.do?query=EXD2&submit=Quick%0D%1763ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXD2	rs8007859	0.804313	0.6855	0.7023	0.15	2	13	exonic	exonic	exonic	EXD2	EXD2	ENSG00000081177	nonsynonymous SNV	nonsynonymous SNV	unknown	EXD2:NM_001193363:exon8:c.G1554T:p.Q518H,EXD2:NM_001193361:exon8:c.G1554T:p.Q518H,EXD2:NM_001193360:exon9:c.G1554T:p.Q518H,EXD2:NM_018199:exon7:c.G1179T:p.Q393H,EXD2:NM_001193362:exon9:c.G1554T:p.Q518H,	EXD2:uc001xku.3:exon9:c.G789T:p.Q263H,EXD2:uc001xkw.3:exon7:c.G1179T:p.Q393H,EXD2:uc001xkv.3:exon8:c.G1554T:p.Q518H,EXD2:uc001xkt.3:exon10:c.G1179T:p.Q393H,EXD2:uc010aqt.3:exon9:c.G1554T:p.Q518H,EXD2:uc001xky.3:exon9:c.G1554T:p.Q518H,EXD2:uc010tte.2:exon8:c.G1554T:p.Q518H,EXD2:uc001xkx.3:exon10:c.G1179T:p.Q393H,	UNKNOWN	Het;G>T	1011;53|45	Het;G>T	1327;47|57	Hom;G>T	2203;0|81
N	N	-	14	71109153	71109153	C	G	snp	nonsynonymous SNV	C307G	P103A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	TTC9	Ttc9	ENSG00000133985	tetratricopeptide repeat domain 9	chr14:71108504-71142077	This gene encodes a protein that contains three tetratricopeptide repeats. The gene has been shown to be hormonally regulated in breast cancer cells and may play a role in cancer cell invasion and metastasis. [provided by RefSeq, Mar 2009]	Triglycerides	Homozygous KO adult females display increased body, thymus and spleen weights and improved mammary development and sensitivity to estrogen.					http://www.genecards.org/index.php?path=/Search/keyword/TTC9	https://www.uniprot.org/uniprot/Q92623		https://www.ncbi.nlm.nih.gov/omim/?term=610488	http://www.informatics.jax.org/searchtool/Search.do?query=TTC9&submit=Quick%0D%6892ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC9	rs4902834	0.841653	0.8698	0.8611	0.08	1	13	exonic	exonic	exonic	TTC9	TTC9	ENSG00000133985	nonsynonymous SNV	nonsynonymous SNV	unknown	TTC9:NM_015351:exon1:c.C307G:p.P103A,	TTC9:uc001xmi.2:exon1:c.C307G:p.P103A,	UNKNOWN	Het;C>G	1122;41|48	Het;C>G	976;55|44	Hom;C>G	2435;0|87
N	N	-	14	72169130	72169130	T	C	snp	nonsynonymous SNV	T3554C	I1185T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	SIPA1L1	Sipa1l1	ENSG00000197555	signal induced proliferation associated 1 like 1	chr14:71787166-72207946		von Willebrand Factor; Heart Function Tests	 	Neurexins and neuroligins	GO:0008150;biological_process;ND|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048013;ephrin receptor signaling pathway;ISS|GO:0048167;regulation of synaptic plasticity;ISS|GO:0048814;regulation of dendrite morphogenesis;IEA|GO:0050770;regulation of axonogenesis;ISS|GO:0051056;regulation of small GTPase mediated signal transduction;IEA|GO:0061001;regulation of dendritic spine morphogenesis;ISS|GO:0090630;activation of GTPase activity;ISS	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043005;neuron projection;IEA|GO:0043197;dendritic spine;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0003674;molecular_function;ND|GO:0005096;GTPase activator activity;IEA|GO:0046875;ephrin receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIPA1L1			https://www.ncbi.nlm.nih.gov/omim/?term=617504	http://www.informatics.jax.org/searchtool/Search.do?query=SIPA1L1&submit=Quick%0D%16653ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIPA1L1	rs79937396	0.0103834	0.0284	0.0256	0.31	4	13	exonic	exonic	exonic	SIPA1L1	SIPA1L1	ENSG00000197555	nonsynonymous SNV	nonsynonymous SNV	unknown	SIPA1L1:NM_015556:exon12:c.T3554C:p.I1185T,SIPA1L1:NM_001284246:exon12:c.T3554C:p.I1185T,SIPA1L1:NM_001284247:exon11:c.T3554C:p.I1185T,SIPA1L1:NM_001284245:exon12:c.T3554C:p.I1185T,	SIPA1L1:uc001xmv.3:exon11:c.T3554C:p.I1185T,SIPA1L1:uc001xmt.3:exon12:c.T3554C:p.I1185T,SIPA1L1:uc010ttm.2:exon11:c.T1979C:p.I660T,SIPA1L1:uc001xmu.3:exon12:c.T3554C:p.I1185T,SIPA1L1:uc001xms.3:exon12:c.T3554C:p.I1185T,	UNKNOWN	Het;T>C	1086;31|46	Het;T>C	1203;59|57	Hom;T>C	2303;0|79
N	N	-	14	77843814	77843814	T	C	snp	nonsynonymous SNV	T53C	L18P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	SAMD15	Samd15	ENSG00000100583	sterile alpha motif domain containing 15	chr14:77843032-77857840			 		GO:0000027;ribosomal large subunit assembly;IBA|GO:0006364;rRNA processing;IBA	GO:0030687;preribosome, large subunit precursor;IBA		http://www.genecards.org/index.php?path=/Search/keyword/SAMD15	https://www.uniprot.org/uniprot/Q9P1V8			http://www.informatics.jax.org/searchtool/Search.do?query=SAMD15&submit=Quick%0D%2559ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAMD15	rs11844594	0.513179	0.5886	0.4829	0.08	1	13	exonic	exonic	exonic	SAMD15	SAMD15	ENSG00000100583	nonsynonymous SNV	nonsynonymous SNV	unknown	SAMD15:NM_001010860:exon1:c.T53C:p.L18P,	SAMD15:uc001xtq.1:exon1:c.T53C:p.L18P,SAMD15:uc021rwt.1:exon1:c.T53C:p.L18P,	UNKNOWN	Het;T>C	725;29|28	Het;T>C	890;42|40	Hom;T>C	2110;0|74
N	N	-	14	77844869	77844869	A	G	snp	nonsynonymous SNV	A1108G	K370E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	SAMD15	Samd15	ENSG00000100583	sterile alpha motif domain containing 15	chr14:77843032-77857840			 		GO:0000027;ribosomal large subunit assembly;IBA|GO:0006364;rRNA processing;IBA	GO:0030687;preribosome, large subunit precursor;IBA		http://www.genecards.org/index.php?path=/Search/keyword/SAMD15	https://www.uniprot.org/uniprot/Q9P1V8			http://www.informatics.jax.org/searchtool/Search.do?query=SAMD15&submit=Quick%0D%2559ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAMD15	rs4903576	0.523163	0.5961	0.4845	0.08	1	13	exonic	exonic	exonic	SAMD15	SAMD15	ENSG00000100583	nonsynonymous SNV	nonsynonymous SNV	unknown	SAMD15:NM_001010860:exon1:c.A1108G:p.K370E,	SAMD15:uc001xtq.1:exon1:c.A1108G:p.K370E,SAMD15:uc021rwt.1:exon1:c.A1108G:p.K370E,	UNKNOWN	Het;A>G	601;28|24	Het;A>G	895;14|37	Hom;A>G	1885;0|69
N	N	-	14	77845121	77845121	A	G	snp	nonsynonymous SNV	A1360G	K454E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	SAMD15	Samd15	ENSG00000100583	sterile alpha motif domain containing 15	chr14:77843032-77857840			 		GO:0000027;ribosomal large subunit assembly;IBA|GO:0006364;rRNA processing;IBA	GO:0030687;preribosome, large subunit precursor;IBA		http://www.genecards.org/index.php?path=/Search/keyword/SAMD15	https://www.uniprot.org/uniprot/Q9P1V8			http://www.informatics.jax.org/searchtool/Search.do?query=SAMD15&submit=Quick%0D%2559ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SAMD15	rs2193595	0.512979	0.5881	0.4823	0.08	1	12	exonic	exonic	exonic	SAMD15	SAMD15	ENSG00000100583	nonsynonymous SNV	nonsynonymous SNV	unknown	SAMD15:NM_001010860:exon1:c.A1360G:p.K454E,	SAMD15:uc001xtq.1:exon1:c.A1360G:p.K454E,SAMD15:uc021rwt.1:exon1:c.A1360G:p.K454E,	UNKNOWN	Het;A>G	2063;90|87	Het;A>G	1846;76|83	Hom;A>G	4521;2|162
N	N	-	14	94844843	94844843	T	G	snp	nonsynonymous SNV	A1200C	E400D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	SERPINA1	Serpina1e	ENSG00000277377	serpin family A member 1	chr14:94843084-94857030	The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]	atherosclerosis; chronic obstructive airways disease.; asthma; alpha(1) antitrypsin deficiency; Hepatitis C, Chronic|Liver Cirrhosis; alphal-antitrypsin deficiency; heart disease, ischemic; cerebrovascular disease, ischemic; fibromuscular dysplasia (FMD); bronchiectasis; common variable immunodeficiency; cirrhosis, alcoholic; Cough|Dyspnea|Pulmonary Disease, Chronic Obstructive; Cystic Fibrosis|Hypertension, Portal|Liver Cirrhosis|Liver Diseases; alpha 1-Antitrypsin Deficiency|Pulmonary Disease, Chronic Obstructive; alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z; blood pressure; normal variation; Pulmonary Emphysema; COPD; null; pancreatitis, acute pancreatitis, chronic; Atopic asthma. BHR. total IgE. SPT; Asthma|Pulmonary Disease, Chronic Obstructive; Myocardial Infarction; liver disease; Blood Pressure; cystic fibrosis; rheumatoid arthritis; obstructive Pulmonary Disease and Disseminated Bronchiectasis; lung cancer ; Pancreatitis, Alcoholic|Pancreatitis, Chronic; cervical artery dissection, spontaneous; alpha 1-Antitrypsin Deficiency|Lung Diseases, Obstructive; Genetic Diseases, Inborn; PAI-1 levels; Chronic Obstructive Pulmonary Disease; Asthma; alpha 1-Antitrypsin Deficiency|Emphysema; alpha 1-Antitrypsin Deficiency|Liver Diseases; Lung Diseases; lung cancer; Type 2 Diabetes| edema | rosiglitazone; pregnancy loss; Bronchiectasis|Bronchitis|Bronchitis unspecified|Emphysema|Lung Diseases, Obstructive; cystic fibrosis lung disease; sarcoidosis tuberculosis; cardiovascular disease; periodontal disease; chronic obstructive pulmonary disease; alpha 1-Antitrypsin Deficiency; alpha 1-Antitrypsin Deficiency|Aortic Stenosis, Supravalvular|Dislocations|Scoliosis|Williams Syndrome; chronic obstructive pulmonary disease/COPD; Tobacco Use Disorder; alpha 1-Antitrypsin Deficiency|Occupational Diseases|Smoke Inhalation Injury; lung function; Bronchiectasis|Immunologic Deficiency Syndromes; cardiovascular disease; Asbestosis; Nasal Polyps|Rhinitis|Sinusitis; Peyronie's disease; Cystic Fibrosis|Liver Diseases; psoriasis; stroke, ischemic; Airway Obstruction|alpha 1-Antitrypsin Deficiency|Pulmonary Disease, Chronic Obstructive; Serum alpha 1-antitrypsin deficiency; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; Pulmonary Disease, Chronic Obstructive; periodontitis; colorectal cancer; Alzheimer's disease; chronic obstructive pulmonary disease/COPD; Coronary Artery Disease|Glomerulonephritis, Membranous|Peripheral Vascular Diseases; Liver Diseases; hemochromatosis; alpha 1-Antitrypsin Deficiency|Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; alpha 1-antitrypsin deficiency; myocardial infarct; atherosclerosis, coronary; tuberculosis; HIV; Fatty Liver|Iron Overload|Liver Cirrhosis	 			GO:0005615;extracellular space;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SERPINA1		https://hpo.jax.org/app/browse/search?q=SERPINA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=107400	http://www.informatics.jax.org/searchtool/Search.do?query=SERPINA1&submit=Quick%0D%21819ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINA1	rs1303	0.280351	0.2071	0.2747	0.15	2	13	exonic	exonic	exonic	SERPINA1	SERPINA1	ENSG00000197249	nonsynonymous SNV	nonsynonymous SNV	unknown	SERPINA1:NM_001127700:exon5:c.A1200C:p.E400D,SERPINA1:NM_000295:exon5:c.A1200C:p.E400D,SERPINA1:NM_001002236:exon7:c.A1200C:p.E400D,SERPINA1:NM_001127707:exon6:c.A1200C:p.E400D,SERPINA1:NM_001127705:exon7:c.A1200C:p.E400D,SERPINA1:NM_001127704:exon7:c.A1200C:p.E400D,SERPINA1:NM_001002235:exon5:c.A1200C:p.E400D,SERPINA1:NM_001127706:exon6:c.A1200C:p.E400D,SERPINA1:NM_001127701:exon7:c.A1200C:p.E400D,SERPINA1:NM_001127702:exon6:c.A1200C:p.E400D,SERPINA1:NM_001127703:exon7:c.A1200C:p.E400D,	SERPINA1:uc010ava.3:exon7:c.A1200C:p.E400D,SERPINA1:uc010aux.3:exon5:c.A1200C:p.E400D,SERPINA1:uc001ycy.4:exon7:c.A1200C:p.E400D,SERPINA1:uc001ycx.4:exon5:c.A1200C:p.E400D,SERPINA1:uc010auy.3:exon7:c.A1200C:p.E400D,SERPINA1:uc010auz.3:exon6:c.A1200C:p.E400D,SERPINA1:uc001ydc.4:exon6:c.A1200C:p.E400D,SERPINA1:uc001ydb.4:exon7:c.A1200C:p.E400D,SERPINA1:uc010avb.3:exon6:c.A1200C:p.E400D,SERPINA1:uc010auw.3:exon7:c.A1200C:p.E400D,SERPINA1:uc001ycz.4:exon5:c.A1200C:p.E400D,	UNKNOWN	Het;T>G	2162;74|97	Het;T>G	1804;73|81	Hom;T>G	3449;0|120
N	N	-	14	95884323	95884323	G	A	snp	nonsynonymous SNV	C2753T	A918V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SYNE3	Syne3	ENSG00000176438	spectrin repeat containing nuclear envelope family member 3	chr14:95883831-95942173		Lipoproteins	 		GO:0007010;cytoskeleton organization;IMP|GO:0008360;regulation of cell shape;IMP|GO:0090150;establishment of protein localization to membrane;IDA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IDA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005640;nuclear outer membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034993;LINC complex;IDA	GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/SYNE3			https://www.ncbi.nlm.nih.gov/omim/?term=610861	http://www.informatics.jax.org/searchtool/Search.do?query=SYNE3&submit=Quick%0D%13860ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNE3	rs12434757	0.55012	0.6243	0.6173	0.08	1	13	exonic	exonic	exonic	SYNE3	SYNE3	ENSG00000176438	nonsynonymous SNV	nonsynonymous SNV	unknown	SYNE3:NM_152592:exon17:c.C2768T:p.A923V,	SYNE3:uc010avi.3:exon17:c.C2753T:p.A918V,SYNE3:uc001yei.4:exon17:c.C2768T:p.A923V,	UNKNOWN	Het;G>A	635;19|29	Het;G>A	628;36|28	Hom;G>A	1162;0|44
N	N	-	14	96771959	96771959	A	G	snp	nonsynonymous SNV	T4700C	I1567T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ATG2B	Atg2b	ENSG00000066739	autophagy related 2B	chr14:96747595-96830207	This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]	colorectal cancer	 		GO:0000045;autophagosome assembly;IBA|GO:0000422;mitophagy;IBA|GO:0006914;autophagy;IEA|GO:0044804;nucleophagy;IBA	GO:0000407;pre-autophagosomal structure;IBA|GO:0005811;lipid particle;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IBA|GO:0034045;pre-autophagosomal structure membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ATG2B	https://www.uniprot.org/uniprot/Q96BY7		https://www.ncbi.nlm.nih.gov/omim/?term=616226	http://www.informatics.jax.org/searchtool/Search.do?query=ATG2B&submit=Quick%0D%1231ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG2B	rs2289622	0.89357	0.9788	0.9445	0.15	2	13	exonic	exonic	exonic	ATG2B	ATG2B	ENSG00000066739	nonsynonymous SNV	nonsynonymous SNV	unknown	ATG2B:NM_018036:exon31:c.T4700C:p.I1567T,	ATG2B:uc001yfi.3:exon31:c.T4700C:p.I1567T,	UNKNOWN	Het;A>G	772;57|34	Het;A>G	911;37|37	Hom;A>G	3105;0|109
N	N	-	14	96781912	96781912	T	C	snp	nonsynonymous SNV	A3370G	N1124D	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	ATG2B	Atg2b	ENSG00000066739	autophagy related 2B	chr14:96747595-96830207	This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]	colorectal cancer	 		GO:0000045;autophagosome assembly;IBA|GO:0000422;mitophagy;IBA|GO:0006914;autophagy;IEA|GO:0044804;nucleophagy;IBA	GO:0000407;pre-autophagosomal structure;IBA|GO:0005811;lipid particle;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IBA|GO:0034045;pre-autophagosomal structure membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/ATG2B	https://www.uniprot.org/uniprot/Q96BY7		https://www.ncbi.nlm.nih.gov/omim/?term=616226	http://www.informatics.jax.org/searchtool/Search.do?query=ATG2B&submit=Quick%0D%1231ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG2B	rs9323945	0.90655	0.9929	0.9485	0.23	3	13	exonic	exonic	exonic	ATG2B	ATG2B	ENSG00000066739	nonsynonymous SNV	nonsynonymous SNV	unknown	ATG2B:NM_018036:exon22:c.A3370G:p.N1124D,	ATG2B:uc001yfi.3:exon22:c.A3370G:p.N1124D,	UNKNOWN	Het;T>C	1330;55|57	Het;T>C	1108;42|45	Hom;T>C	4195;0|156
N	N	-	15	100821576	100821576	G	A	snp	nonsynonymous SNV	C647T	S216L	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	ADAMTS17	Adamts17	ENSG00000140470	ADAM metallopeptidase with thrombospondin type 1 motif 17	chr15:100511794-100882210	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]	Macular Degeneration; Height; height; Body Height	 	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0003676;nucleic acid binding;IEA|GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS17	https://www.uniprot.org/uniprot/Q8TE56	https://hpo.jax.org/app/browse/search?q=ADAMTS17&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607511	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS17&submit=Quick%0D%8030ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS17	rs7496668	0.484625	0.3626	0.4260	0.31	4	13	exonic	exonic	exonic	ADAMTS17	ADAMTS17	ENSG00000140470	nonsynonymous SNV	nonsynonymous SNV	unknown	ADAMTS17:NM_139057:exon4:c.C647T:p.S216L,	ADAMTS17:uc002bvv.1:exon4:c.C647T:p.S216L,	UNKNOWN	Het;G>A	591;27|22	Ref		Hom;G>A	1753;0|62
N	N	-	15	102264304	102264304	G	C	snp	nonsynonymous SNV	C287G	A96G	aliphatic,hydrophobic,neutral	aliphatic,neutral	TARSL2	Tarsl2	ENSG00000185418	threonyl-tRNA synthetase like 2	chr15:102193801-102264807		Tobacco Use Disorder	 		GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006435;threonyl-tRNA aminoacylation;IBA|GO:0008150;biological_process;ND|GO:0043039;tRNA aminoacylation;IEA	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004829;threonine-tRNA ligase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0016876;ligase activity, forming aminoacyl-tRNA and related compounds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TARSL2				http://www.informatics.jax.org/searchtool/Search.do?query=TARSL2&submit=Quick%0D%15412ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TARSL2	rs1143138	0.458666	0.1842	0.5845	0.08	1	12	exonic	exonic	exonic	TARSL2	TARSL2	ENSG00000185418	nonsynonymous SNV	nonsynonymous SNV	unknown	TARSL2:NM_152334:exon1:c.C287G:p.A96G,	TARSL2:uc002bxm.3:exon1:c.C287G:p.A96G,	UNKNOWN	Het;G>C	116;6|5	Het;G>C	196;7|8	Hom;G>C	505;0|19
N	N	-	15	22368862	22368862	G	A	snp	nonsynonymous SNV	G287A	G96E	aliphatic,neutral	polar,hydrophilic,charged(-)	OR4M2		ENSG00000274102	olfactory receptor family 4 subfamily M member 2	chr15:22368478-22369561	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]			Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR4M2				http://www.informatics.jax.org/searchtool/Search.do?query=OR4M2&submit=Quick%0D%21042ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4M2	rs1835183	0	0.5590	0.6277	0.60	6	10	exonic	exonic	exonic	OR4M2	OR4M2	ENSG00000182974	nonsynonymous SNV	nonsynonymous SNV	unknown	OR4M2:NM_001004719:exon1:c.G287A:p.G96E,	OR4M2:uc010tzu.2:exon1:c.G287A:p.G96E,	UNKNOWN	Het;G>A	8042;146|312	Het;G>A	8153;165|322	Hom;G>A	14391;2|507
N	N	-	15	40259848	40259848	A	C	snp	nonsynonymous SNV	A508C	I170L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	EIF2AK4	Eif2ak4	ENSG00000128829	eukaryotic translation initiation factor 2 alpha kinase 4	chr15:40226347-40327797	This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014]	PULMONARY VENOOCCLUSIVE DISEASE 2 AUTOSOMAL RECESSIVE	Homozygotes for a null allele have altered feeding behavior, synaptic plasticity and dendritic cell function. Homozygotes for another null allele show enhanced muscle loss and morbidity after amino acid deprivation. Homozygotes for an ENU-induced allele show higher susceptibility to viral infection.		GO:0002230;positive regulation of defense response to virus by host;ISS|GO:0002250;adaptive immune response;IEA|GO:0002286;T cell activation involved in immune response;ISS|GO:0002376;immune system process;IEA|GO:0002821;positive regulation of adaptive immune response;ISS|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;ISS|GO:0006468;protein phosphorylation;ISS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007399;nervous system development;IEA|GO:0007612;learning;ISS|GO:0007616;long-term memory;ISS|GO:0010998;regulation of translational initiation by eIF2 alpha phosphorylation;IMP|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0019081;viral translation;ISS|GO:0032057;negative regulation of translational initiation in response to stress;ISS|GO:0032792;negative regulation of CREB transcription factor activity;ISS|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034644;cellular response to UV;ISS|GO:0036492;eiF2alpha phosphorylation in response to endoplasmic reticulum stress;IMP|GO:0039520;induction by virus of host autophagy;IEA|GO:0044828;negative regulation by host of viral genome replication;ISS|GO:0045665;negative regulation of neuron differentiation;ISS|GO:0045947;negative regulation of translational initiation;ISS|GO:0046777;protein autophosphorylation;ISS|GO:0051607;defense response to virus;IEA|GO:0060259;regulation of feeding behavior;ISS|GO:0060733;regulation of eIF2 alpha phosphorylation by amino acid starvation;IMP|GO:0070417;cellular response to cold;IMP|GO:0071264;positive regulation of translational initiation in response to starvation;ISS|GO:1900273;positive regulation of long-term synaptic potentiation;ISS|GO:1990138;neuron projection extension;ISS|GO:1990253;cellular response to leucine starvation;ISS	GO:0005737;cytoplasm;IEA|GO:0005844;polysome;ISS|GO:0022626;cytosolic ribosome;ISS	GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004694;eukaryotic translation initiation factor 2alpha kinase activity;IMP|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EIF2AK4	https://www.uniprot.org/uniprot/Q9P2K8	https://hpo.jax.org/app/browse/search?q=EIF2AK4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609280	http://www.informatics.jax.org/searchtool/Search.do?query=EIF2AK4&submit=Quick%0D%6186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2AK4	rs2291627	0.247404	0.1216	0.1491	0.23	3	13	exonic	exonic	exonic	EIF2AK4	EIF2AK4	ENSG00000128829	nonsynonymous SNV	nonsynonymous SNV	unknown	EIF2AK4:NM_001013703:exon9:c.A1321C:p.I441L,	EIF2AK4:uc010bbj.1:exon4:c.A508C:p.I170L,EIF2AK4:uc001zkl.3:exon9:c.A1321C:p.I441L,EIF2AK4:uc001zkm.1:exon9:c.A1321C:p.I441L,	UNKNOWN	Het;A>C	1459;83|61	Het;A>C	1344;55|51	Hom;A>C	3319;2|118
N	N	-	15	42981022	42981022	A	G	snp	nonsynonymous SNV	A7246G	M2416V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	STARD9	Stard9	ENSG00000159433	StAR related lipid transfer domain containing 9	chr15:42867857-43013179		Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine	 		GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA	GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/STARD9			https://www.ncbi.nlm.nih.gov/omim/?term=614642	http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9	rs28744617	0.258586	0.2662	0.3088	0.10	1	10	exonic	exonic	exonic	STARD9	STARD9	ENSG00000159433	nonsynonymous SNV	nonsynonymous SNV	unknown	STARD9:NM_020759:exon23:c.A7246G:p.M2416V,	STARD9:uc010udj.2:exon23:c.A7246G:p.M2416V,	UNKNOWN	Het;A>G	2243;64|95	Het;A>G	1458;64|65	Hom;A>G	4010;0|143
N	N	-	15	42981806	42981806	G	A	snp	nonsynonymous SNV	G8030A	R2677H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	STARD9	Stard9	ENSG00000159433	StAR related lipid transfer domain containing 9	chr15:42867857-43013179		Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine	 		GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA	GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/STARD9			https://www.ncbi.nlm.nih.gov/omim/?term=614642	http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9	rs8030587	0.446086	0.3924	0.3768	0.09	1	11	exonic	exonic	exonic	STARD9	STARD9	ENSG00000159433	nonsynonymous SNV	nonsynonymous SNV	unknown	STARD9:NM_020759:exon23:c.G8030A:p.R2677H,	STARD9:uc010udj.2:exon23:c.G8030A:p.R2677H,	UNKNOWN	Het;G>A	1199;84|54	Het;G>A	1599;89|73	Hom;G>A	2904;0|103
N	N	-	15	42982340	42982340	C	T	snp	nonsynonymous SNV	C8564T	T2855I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	STARD9	Stard9	ENSG00000159433	StAR related lipid transfer domain containing 9	chr15:42867857-43013179		Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine	 		GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA	GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/STARD9			https://www.ncbi.nlm.nih.gov/omim/?term=614642	http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9	rs8031218	0.314497	0.2864	0.3019	0.18	2	11	exonic	exonic	exonic	STARD9	STARD9	ENSG00000159433	nonsynonymous SNV	nonsynonymous SNV	unknown	STARD9:NM_020759:exon23:c.C8564T:p.T2855I,	STARD9:uc010udj.2:exon23:c.C8564T:p.T2855I,	UNKNOWN	Het;C>T	1275;75|55	Het;C>T	1049;71|46	Hom;C>T	2604;2|94
N	N	-	15	42983923	42983923	A	G	snp	nonsynonymous SNV	A10147G	N3383D	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	STARD9	Stard9	ENSG00000159433	StAR related lipid transfer domain containing 9	chr15:42867857-43013179		Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine	 		GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA	GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/STARD9			https://www.ncbi.nlm.nih.gov/omim/?term=614642	http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9	rs3742993	0.242812	0.2419	0.2910	0.08	1	12	exonic	exonic	exonic	STARD9	STARD9	ENSG00000159433	nonsynonymous SNV	nonsynonymous SNV	unknown	STARD9:NM_020759:exon23:c.A10147G:p.N3383D,	STARD9:uc010udj.2:exon23:c.A10147G:p.N3383D,	UNKNOWN	Het;A>G	2659;132|120	Het;A>G	2328;124|107	Hom;A>G	5938;1|217
N	N	-	15	43020983	43020983	G	A	snp	nonsynonymous SNV	C649T	R217C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	CDAN1	Cdan1	ENSG00000140326	codanin 1	chr15:43015757-43029324	This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]	Stroke; protein quantitative trait loci	Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation.		GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDAN1	https://www.uniprot.org/uniprot/Q8IWY9	https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607465	http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1	rs8023524	0.262979	0.2696	0.2158	0.54	7	13	exonic	exonic	exonic	CDAN1	CDAN1	ENSG00000140326	nonsynonymous SNV	nonsynonymous SNV	unknown	CDAN1:NM_138477:exon20:c.C2671T:p.R891C,	CDAN1:uc001zqk.3:exon14:c.C649T:p.R217C,CDAN1:uc001zql.3:exon20:c.C2671T:p.R891C,	UNKNOWN	Het;G>A	1300;73|59	Het;G>A	1145;58|51	Hom;G>A	2981;0|109
N	N	-	15	43023482	43023482	T	C	snp	nonsynonymous SNV	A1787G	Q596R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	CDAN1	Cdan1	ENSG00000140326	codanin 1	chr15:43015757-43029324	This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]	Stroke; protein quantitative trait loci	Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation.		GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDAN1	https://www.uniprot.org/uniprot/Q8IWY9	https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607465	http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1	rs12917189	0.453674	0.4163	0.2933	0.31	4	13	exonic	exonic	exonic	CDAN1	CDAN1	ENSG00000140326	nonsynonymous SNV	nonsynonymous SNV	unknown	CDAN1:NM_138477:exon12:c.A1787G:p.Q596R,	CDAN1:uc001zql.3:exon12:c.A1787G:p.Q596R,	UNKNOWN	Het;T>C	1069;54|44	Het;T>C	1142;40|57	Hom;T>C	2077;4|82
N	N	-	15	43028749	43028749	T	A	snp	nonsynonymous SNV	A320T	Q107L	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	CDAN1	Cdan1	ENSG00000140326	codanin 1	chr15:43015757-43029324	This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]	Stroke; protein quantitative trait loci	Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation.		GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDAN1	https://www.uniprot.org/uniprot/Q8IWY9	https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607465	http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1	rs4265781	0.460663	0	0.4132	0.15	2	13	exonic	exonic	exonic	CDAN1	CDAN1	ENSG00000140326	nonsynonymous SNV	nonsynonymous SNV	unknown	CDAN1:NM_138477:exon2:c.A320T:p.Q107L,	CDAN1:uc001zql.3:exon2:c.A320T:p.Q107L,	UNKNOWN	Het;T>A	355;11|14	Het;T>A	545;15|21	Hom;T>A	941;0|28
N	N	-	15	43170793	43170793	A	G	snp	nonsynonymous SNV	T23C	L8P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	TTBK2	Ttbk2	ENSG00000128881	tau tubulin kinase 2	chr15:43030932-43213007	This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009]	Spinocerebellar Ataxias; Tobacco Use Disorder; null	Mice homozygous for a knock-in allele exhibit complete preweaning lethality, decreased embryo size, growth retardation, and incomplete turning.	Anchoring of the basal body to the plasma membrane	GO:0006468;protein phosphorylation;IEA|GO:0007224;smoothened signaling pathway;ISS|GO:0008360;regulation of cell shape;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005929;cilium;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TTBK2	https://www.uniprot.org/uniprot/Q6IQ55	https://hpo.jax.org/app/browse/search?q=TTBK2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611695	http://www.informatics.jax.org/searchtool/Search.do?query=TTBK2&submit=Quick%0D%6190ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTBK2	rs6493068	0.514776	0.4694	0.3784	0.25	3	12	exonic	exonic	exonic	TTBK2	TTBK2	ENSG00000128881	nonsynonymous SNV	nonsynonymous SNV	unknown	TTBK2:NM_173500:exon2:c.T23C:p.L8P,	TTBK2:uc001zqo.2:exon2:c.T23C:p.L8P,TTBK2:uc001zqp.3:exon2:c.T23C:p.L8P,	UNKNOWN	Het;A>G	990;84|50	Het;A>G	893;56|45	Hom;A>G	2616;0|104
N	N	-	15	43256191	43256191	T	C	snp	nonsynonymous SNV	A4642G	T1548A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	UBR1	Ubr1	ENSG00000159459	ubiquitin protein ligase E3 component n-recognin 1	chr15:43235095-43398311	The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]	diabetes, type 2	Homozygous null mutants have 20% lower body weight and reduced muscle and adipose tissue. Skeletal muscle lacks a mechanism for targeting proteins for rapid catabolism. Aberrant regulation of fatty acid synthase upon starvation is also observed.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030163;protein catabolic process;IEA|GO:0032007;negative regulation of TOR signaling;IMP|GO:0071233;cellular response to leucine;IDA|GO:0071596;ubiquitin-dependent protein catabolic process via the N-end rule pathway;IBA	GO:0000151;ubiquitin ligase complex;IEA|GO:0000502;proteasome complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA|GO:0070728;leucine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/UBR1		https://hpo.jax.org/app/browse/search?q=UBR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605981	http://www.informatics.jax.org/searchtool/Search.do?query=UBR1&submit=Quick%0D%10342ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBR1	rs3917223	0.033147	0.0542	0.0638	0.46	6	13	exonic	exonic	exonic	UBR1	UBR1	ENSG00000159459	nonsynonymous SNV	nonsynonymous SNV	unknown	UBR1:NM_174916:exon42:c.A4642G:p.T1548A,	UBR1:uc001zqq.3:exon42:c.A4642G:p.T1548A,	UNKNOWN	Het;T>C	783;37|37	Het;T>C	646;24|29	Hom;T>C	2003;0|74
N	N	-	15	43658935	43658935	C	T	snp	nonsynonymous SNV	G592A	G198S	aliphatic,neutral	polar,hydrophilic,neutral	ZSCAN29	Zscan29	ENSG00000140265	zinc finger and SCAN domain containing 29	chr15:43650370-43663223			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN29	https://www.uniprot.org/uniprot/Q8IWY8			http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN29&submit=Quick%0D%7991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN29	rs3917221	0.134984	0.1898	0.1650	0.15	2	13	exonic	exonic	exonic	ZSCAN29	ZSCAN29	ENSG00000140265	nonsynonymous SNV	nonsynonymous SNV	unknown	ZSCAN29:NM_152455:exon3:c.G595A:p.G199S,	ZSCAN29:uc001zrm.3:exon3:c.G592A:p.G198S,ZSCAN29:uc001zrj.1:exon2:c.G235A:p.G79S,ZSCAN29:uc010bdf.1:exon3:c.G592A:p.G198S,ZSCAN29:uc001zrk.1:exon3:c.G595A:p.G199S,	UNKNOWN	Het;C>T	1740;79|75	Het;C>T	1032;53|49	Hom;C>T	3781;0|138
N	N	-	15	43661802	43661802	T	C	snp	nonsynonymous SNV	A307G	R103G	polar,hydrophilic,charged(+)	aliphatic,neutral	ZSCAN29	Zscan29	ENSG00000140265	zinc finger and SCAN domain containing 29	chr15:43650370-43663223			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN29	https://www.uniprot.org/uniprot/Q8IWY8			http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN29&submit=Quick%0D%7991ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN29	rs3809482	0.545927	0.4898	0.3821	0.15	2	13	exonic	exonic	exonic	ZSCAN29	ZSCAN29	ENSG00000140265	nonsynonymous SNV	nonsynonymous SNV	unknown	ZSCAN29:NM_152455:exon1:c.A310G:p.R104G,	ZSCAN29:uc001zrm.3:exon1:c.A307G:p.R103G,ZSCAN29:uc010bdg.1:exon1:c.A307G:p.R103G,ZSCAN29:uc010bdf.1:exon1:c.A307G:p.R103G,ZSCAN29:uc001zrk.1:exon1:c.A310G:p.R104G,	UNKNOWN	Het;T>C	631;20|27	Het;T>C	389;28|20	Hom;T>C	1458;1|52
N	N	-	15	43724646	43724646	T	G	snp	nonsynonymous SNV	A3421C	K1141Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	TP53BP1	Trp53bp1	ENSG00000067369	tumor protein p53 binding protein 1	chr15:43699407-43802926		Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; lung cancer ; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms; lung cancer; Neoplasms; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Adenocarcinoma|Esophageal Neoplasms|Gastroesophageal Reflux|Oesophageal neoplasm; Colorectal Neoplasms; Attention Deficit Disorder with Hyperactivity; breast cancer; Leukemia, Lymphocytic, Chronic, B-Cell; esophageal adenocarcinoma	Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas.	G2/M DNA damage checkpoint	GO:0000077;DNA damage checkpoint;IBA|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0016925;protein sumoylation;TAS|GO:0045830;positive regulation of isotype switching;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IC|GO:0051260;protein homooligomerization;IDA|GO:0071481;cellular response to X-ray;IEA|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IDA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000781;chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0035861;site of double-strand break;IDA	GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0001104;RNA polymerase II transcription cofactor activity;IMP|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0035064;methylated histone binding;IDA|GO:0061649;ubiquitinated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TP53BP1	https://www.uniprot.org/uniprot/Q12888		https://www.ncbi.nlm.nih.gov/omim/?term=605230	http://www.informatics.jax.org/searchtool/Search.do?query=TP53BP1&submit=Quick%0D%1254ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TP53BP1	rs2602141	0.526358	0.4836	0.3750	0.23	3	13	exonic	exonic	exonic	TP53BP1	TP53BP1	ENSG00000067369	nonsynonymous SNV	nonsynonymous SNV	unknown	TP53BP1:NM_001141979:exon17:c.A3421C:p.K1141Q,TP53BP1:NM_001141980:exon17:c.A3421C:p.K1141Q,TP53BP1:NM_005657:exon17:c.A3406C:p.K1136Q,	TP53BP1:uc010udq.1:exon17:c.A3421C:p.K1141Q,TP53BP1:uc001zrr.4:exon17:c.A3421C:p.K1141Q,TP53BP1:uc001zrq.4:exon17:c.A3421C:p.K1141Q,TP53BP1:uc001zrs.3:exon17:c.A3406C:p.K1136Q,TP53BP1:uc010udp.2:exon16:c.A3406C:p.K1136Q,	UNKNOWN	Het;T>G	1886;62|75	Het;T>G	2404;81|100	Hom;T>G	5313;0|182
N	N	-	15	43767774	43767774	G	C	snp	nonsynonymous SNV	C1074G	D358E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	TP53BP1	Trp53bp1	ENSG00000067369	tumor protein p53 binding protein 1	chr15:43699407-43802926		Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; lung cancer ; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms; lung cancer; Neoplasms; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Adenocarcinoma|Esophageal Neoplasms|Gastroesophageal Reflux|Oesophageal neoplasm; Colorectal Neoplasms; Attention Deficit Disorder with Hyperactivity; breast cancer; Leukemia, Lymphocytic, Chronic, B-Cell; esophageal adenocarcinoma	Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas.	G2/M DNA damage checkpoint	GO:0000077;DNA damage checkpoint;IBA|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0016925;protein sumoylation;TAS|GO:0045830;positive regulation of isotype switching;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IC|GO:0051260;protein homooligomerization;IDA|GO:0071481;cellular response to X-ray;IEA|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IDA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000781;chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0035861;site of double-strand break;IDA	GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0001104;RNA polymerase II transcription cofactor activity;IMP|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0035064;methylated histone binding;IDA|GO:0061649;ubiquitinated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TP53BP1	https://www.uniprot.org/uniprot/Q12888		https://www.ncbi.nlm.nih.gov/omim/?term=605230	http://www.informatics.jax.org/searchtool/Search.do?query=TP53BP1&submit=Quick%0D%1254ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TP53BP1	rs560191	0.525759	0.4881	0.3737	0.08	1	13	exonic	exonic	exonic	TP53BP1	TP53BP1	ENSG00000067369	nonsynonymous SNV	nonsynonymous SNV	unknown	TP53BP1:NM_001141979:exon9:c.C1074G:p.D358E,TP53BP1:NM_001141980:exon9:c.C1074G:p.D358E,TP53BP1:NM_005657:exon9:c.C1059G:p.D353E,	TP53BP1:uc010udq.1:exon9:c.C1074G:p.D358E,TP53BP1:uc001zrr.4:exon9:c.C1074G:p.D358E,TP53BP1:uc001zrq.4:exon9:c.C1074G:p.D358E,TP53BP1:uc001zrs.3:exon9:c.C1059G:p.D353E,TP53BP1:uc010udp.2:exon8:c.C1059G:p.D353E,	UNKNOWN	Het;G>C	665;43|31	Het;G>C	1077;37|48	Hom;G>C	2428;0|91
N	N	-	15	43817404	43817404	G	A	snp	nonsynonymous SNV	G3733A	D1245N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	MAP1A	Map1a	ENSG00000166963	microtubule associated protein 1A	chr15:43803156-43823818	This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]	Attention Deficit Disorder with Hyperactivity; schizophrenia	Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration.		GO:0000226;microtubule cytoskeleton organization;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS	GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAP1A			https://www.ncbi.nlm.nih.gov/omim/?term=600178	http://www.informatics.jax.org/searchtool/Search.do?query=MAP1A&submit=Quick%0D%11921ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1A	rs12912505	0.103834	0.1513	0.1566	0.58	7	12	exonic	exonic	exonic	MAP1A	MAP1A	ENSG00000166963	nonsynonymous SNV	nonsynonymous SNV	unknown	MAP1A:NM_002373:exon4:c.G3733A:p.D1245N,	MAP1A:uc001zrt.3:exon4:c.G3733A:p.D1245N,	UNKNOWN	Het;G>A	4332;86|109	Het;G>A	3616;92|94	Hom;G>A	5931;0|134
N	N	-	15	43818079	43818079	G	A	snp	nonsynonymous SNV	G4408A	A1470T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	MAP1A	Map1a	ENSG00000166963	microtubule associated protein 1A	chr15:43803156-43823818	This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]	Attention Deficit Disorder with Hyperactivity; schizophrenia	Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration.		GO:0000226;microtubule cytoskeleton organization;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS	GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAP1A			https://www.ncbi.nlm.nih.gov/omim/?term=600178	http://www.informatics.jax.org/searchtool/Search.do?query=MAP1A&submit=Quick%0D%11921ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1A	rs62020612	0.13778	0.1892	0.1668	0.08	1	12	exonic	exonic	exonic	MAP1A	MAP1A	ENSG00000166963	nonsynonymous SNV	nonsynonymous SNV	unknown	MAP1A:NM_002373:exon4:c.G4408A:p.A1470T,	MAP1A:uc001zrt.3:exon4:c.G4408A:p.A1470T,	UNKNOWN	Het;G>A	1144;85|52	Het;G>A	1123;79|49	Hom;G>A	3022;0|109
N	N	-	15	50226313	50226313	G	T	snp	nonsynonymous SNV	C973A	H325N	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	ATP8B4	Atp8b4	ENSG00000104043	ATPase phospholipid transporting 8B4 (putative)	chr15:50150435-50475014	This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]	Triglycerides; Stroke; Cholesterol, HDL; Alzheimer's disease ; Tobacco Use Disorder; Coronary Disease	 	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;IEA	GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8B4	https://www.uniprot.org/uniprot/Q8TF62		https://www.ncbi.nlm.nih.gov/omim/?term=609123	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B4&submit=Quick%0D%3069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B4	rs2452524	0.639776	0.7437	0.6624	0.08	1	13	exonic	exonic	exonic	ATP8B4	ATP8B4	ENSG00000104043	nonsynonymous SNV	nonsynonymous SNV	unknown	ATP8B4:NM_024837:exon15:c.C1354A:p.H452N,	ATP8B4:uc010ufd.2:exon16:c.C973A:p.H325N,ATP8B4:uc001zxu.3:exon15:c.C1354A:p.H452N,ATP8B4:uc010ber.3:exon16:c.C973A:p.H325N,	UNKNOWN	Het;G>T	817;12|37	Het;G>T	680;29|34	Hom;G>T	1771;0|69
N	N	-	15	50279662	50279662	T	C	snp	nonsynonymous SNV	A293G	N98S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ATP8B4	Atp8b4	ENSG00000104043	ATPase phospholipid transporting 8B4 (putative)	chr15:50150435-50475014	This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]	Triglycerides; Stroke; Cholesterol, HDL; Alzheimer's disease ; Tobacco Use Disorder; Coronary Disease	 	Ion transport by P-type ATPases	GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;IEA	GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP8B4	https://www.uniprot.org/uniprot/Q8TF62		https://www.ncbi.nlm.nih.gov/omim/?term=609123	http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B4&submit=Quick%0D%3069ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B4	rs16963151	0.292133	0.2717	0.2507	0.15	2	13	exonic	exonic	exonic	ATP8B4	ATP8B4	ENSG00000104043	nonsynonymous SNV	nonsynonymous SNV	unknown	ATP8B4:NM_024837:exon10:c.A674G:p.N225S,	ATP8B4:uc010ufd.2:exon11:c.A293G:p.N98S,ATP8B4:uc001zxu.3:exon10:c.A674G:p.N225S,ATP8B4:uc010ber.3:exon11:c.A293G:p.N98S,	UNKNOWN	Het;T>C	679;52|34	Het;T>C	1283;54|57	Hom;T>C	3290;0|120
N	N	-	15	52901433	52901433	C	T	snp	nonsynonymous SNV	G1414A	V472I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FAM214A	Fam214a	ENSG00000047346	family with sequence similarity 214 member A	chr15:52873514-53002014		Monocytes; Stroke; Cholesterol, LDL; Cholesterol	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM214A	https://www.uniprot.org/uniprot/Q32MH5			http://www.informatics.jax.org/searchtool/Search.do?query=FAM214A&submit=Quick%0D%866ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM214A	rs12915981	0.4373	0.6153	0.6249	0.08	1	13	exonic	exonic	exonic	FAM214A	FAM214A	ENSG00000047346	nonsynonymous SNV	nonsynonymous SNV	unknown	FAM214A:NM_019600:exon6:c.G1678A:p.V560I,FAM214A:NM_001286495:exon5:c.G1699A:p.V567I,	FAM214A:uc010bfg.1:exon5:c.G1414A:p.V472I,FAM214A:uc002acg.4:exon6:c.G1678A:p.V560I,FAM214A:uc010ugf.2:exon5:c.G1699A:p.V567I,	UNKNOWN	Het;C>T	1094;32|43	Het;C>T	1106;63|48	Hom;C>T	3034;1|106
N	N	-	15	53907948	53907948	G	A	snp	nonsynonymous SNV	C2455T	L819F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	WDR72	Wdr72	ENSG00000166415	WD repeat domain 72	chr15:53805938-54055075	This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]	Creatinine; diabetes, type 1 ; Cholesterol; Fibrinogen; Lipids; Cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Longevity; Stroke; Mental Competency; Body Height	Mice homozygous for a null allele display hypomineralized enamel, ameloblast abnormalities and decreased post-weaning body weight.		GO:0031214;biomineral tissue development;IEA|GO:0070166;enamel mineralization;IEA	GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/WDR72		https://hpo.jax.org/app/browse/search?q=WDR72&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613214	http://www.informatics.jax.org/searchtool/Search.do?query=WDR72&submit=Quick%0D%11785ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR72	rs17730281	0.266973	0.1995	0.2549	0.77	10	13	exonic	exonic	exonic	WDR72	WDR72	ENSG00000166415	nonsynonymous SNV	nonsynonymous SNV	unknown	WDR72:NM_182758:exon15:c.C2455T:p.L819F,	WDR72:uc002acj.2:exon15:c.C2455T:p.L819F,WDR72:uc010bfi.1:exon17:c.C2455T:p.L819F,WDR72:uc031qse.1:exon15:c.C2455T:p.L819F,	UNKNOWN	Het;G>A	1446;40|59	Het;G>A	1591;84|67	Hom;G>A	6119;0|207
N	N	-	15	57731728	57731728	A	G	snp	nonsynonymous SNV	A1531G	T511A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	CGNL1	Cgnl1	ENSG00000128849	cingulin like 1	chr15:57668165-57842925	This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011]	Bipolar Disorder	 			GO:0005923;bicellular tight junction;IEA|GO:0016459;myosin complex;IEA|GO:0030054;cell junction;IEA	GO:0003774;motor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CGNL1	https://www.uniprot.org/uniprot/Q0VF96		https://www.ncbi.nlm.nih.gov/omim/?term=607856	http://www.informatics.jax.org/searchtool/Search.do?query=CGNL1&submit=Quick%0D%6188ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CGNL1	rs1280396	0.862021	0.8472	0.8463	0.08	1	13	exonic	exonic	exonic	CGNL1	CGNL1	ENSG00000128849	nonsynonymous SNV	nonsynonymous SNV	unknown	CGNL1:NM_001252335:exon3:c.A1531G:p.T511A,CGNL1:NM_032866:exon2:c.A1531G:p.T511A,	CGNL1:uc002aeg.3:exon2:c.A1531G:p.T511A,CGNL1:uc010bfw.3:exon3:c.A1531G:p.T511A,	UNKNOWN	Het;A>G	597;58|31	Ref		Hom;A>G	1946;0|70
N	N	-	15	58256127	58256127	C	T	snp	nonsynonymous SNV	G928A	V310I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ALDH1A2	Aldh1a2	ENSG00000128918	aldehyde dehydrogenase 1 family member A2	chr15:58245622-58790065	This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]	neural tube defects; Kidney Diseases|Vitamin A Deficiency; Heart Defects, Congenital|Tetralogy of Fallot; hypertension; drug-related genes ; schizophrenia; Tobacco Use Disorder	Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region.	RA biosynthesis pathway	GO:0001568;blood vessel development;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0001936;regulation of endothelial cell proliferation;IEA|GO:0002138;retinoic acid biosynthetic process;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006776;vitamin A metabolic process;NAS|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009855;determination of bilateral symmetry;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014032;neural crest cell development;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0021915;neural tube development;IMP|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0030902;hindbrain development;IEA|GO:0031016;pancreas development;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0034097;response to cytokine;IDA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035799;ureter maturation;IEA|GO:0042572;retinol metabolic process;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0042574;retinal metabolic process;IEA|GO:0042904;9-cis-retinoic acid biosynthetic process;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060324;face development;IEA|GO:0071300;cellular response to retinoic acid;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0001758;retinal dehydrogenase activity;TAS|GO:0004028;3-chloroallyl aldehyde dehydrogenase activity;IEA|GO:0004029;aldehyde dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016918;retinal binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ALDH1A2	https://www.uniprot.org/uniprot/O94788		https://www.ncbi.nlm.nih.gov/omim/?term=603687	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1A2&submit=Quick%0D%6196ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1A2	rs4646626	0.372804	0.4719	0.4462	0.15	2	13	exonic	exonic	exonic	ALDH1A2	ALDH1A2	ENSG00000128918	nonsynonymous SNV	nonsynonymous SNV	unknown	ALDH1A2:NM_170696:exon8:c.G928A:p.V310I,ALDH1A2:NM_003888:exon9:c.G1042A:p.V348I,ALDH1A2:NM_170697:exon7:c.G754A:p.V252I,ALDH1A2:NM_001206897:exon10:c.G979A:p.V327I,	ALDH1A2:uc002aey.3:exon8:c.G928A:p.V310I,ALDH1A2:uc002aex.3:exon9:c.G1042A:p.V348I,ALDH1A2:uc010ugv.2:exon10:c.G979A:p.V327I,ALDH1A2:uc002aew.3:exon7:c.G754A:p.V252I,ALDH1A2:uc010ugw.2:exon9:c.G955A:p.V319I,	UNKNOWN	Het;C>T	1528;46|69	Het;C>T	977;57|47	Hom;C>T	3121;1|114
N	N	-	15	62259637	62259637	C	T	snp	nonsynonymous SNV	G2792A	R931K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	VPS13C	Vps13c	ENSG00000129003	vacuolar protein sorting 13 homolog C	chr15:62144588-62352672	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]	two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test	 		GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP	GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/VPS13C	https://www.uniprot.org/uniprot/Q709C8	https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608879	http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C	rs3784634	0.755391	0.6677	0.6288	0.08	1	13	exonic	exonic	exonic	VPS13C	VPS13C	ENSG00000129003	nonsynonymous SNV	nonsynonymous SNV	unknown	VPS13C:NM_018080:exon27:c.G2792A:p.R931K,VPS13C:NM_017684:exon27:c.G2792A:p.R931K,VPS13C:NM_001018088:exon29:c.G2921A:p.R974K,VPS13C:NM_020821:exon29:c.G2921A:p.R974K,	VPS13C:uc002ahc.2:exon27:c.G2792A:p.R931K,VPS13C:uc002agz.3:exon29:c.G2921A:p.R974K,VPS13C:uc002ahb.2:exon29:c.G2921A:p.R974K,VPS13C:uc002aha.3:exon27:c.G2792A:p.R931K,	UNKNOWN	Het;C>T	853;34|41	Ref		Hom;C>T	3580;0|139
N	N	-	15	63937209	63937209	C	G	snp	nonsynonymous SNV	G11166C	E3722D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	HERC1	Herc1	ENSG00000103657	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	chr15:63900817-64126141	This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]	Iris; null	Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA	GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HERC1	https://www.uniprot.org/uniprot/Q15751	https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605109	http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1	rs2229749	0.636382	0.8728	0.7471	0.08	1	13	exonic	exonic	exonic	HERC1	HERC1	ENSG00000103657	nonsynonymous SNV	nonsynonymous SNV	unknown	HERC1:NM_003922:exon57:c.G11166C:p.E3722D,	HERC1:uc002amp.3:exon57:c.G11166C:p.E3722D,	UNKNOWN	Het;C>G	1134;42|48	Het;C>G	661;55|33	Hom;C>G	2791;0|101
N	N	-	15	63988357	63988357	C	G	snp	nonsynonymous SNV	G2039C	G680A	aliphatic,neutral	aliphatic,hydrophobic,neutral	HERC1	Herc1	ENSG00000103657	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	chr15:63900817-64126141	This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]	Iris; null	Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA	GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HERC1	https://www.uniprot.org/uniprot/Q15751	https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605109	http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1	rs2255243	0.635982	0.8716	0.7497	0.23	3	13	exonic	exonic	exonic	HERC1	HERC1	ENSG00000103657	nonsynonymous SNV	nonsynonymous SNV	unknown	HERC1:NM_003922:exon27:c.G5087C:p.G1696A,	HERC1:uc010uil.1:exon8:c.G2039C:p.G680A,HERC1:uc002amp.3:exon27:c.G5087C:p.G1696A,	UNKNOWN	Het;C>G	765;47|36	Het;C>G	492;31|22	Hom;C>G	1760;0|65
N	N	-	15	67528374	67528374	T	G	snp	nonsynonymous SNV	A394C	I132L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	AAGAB	Aagab	ENSG00000103591	alpha and gamma adaptin binding protein	chr15:67493371-67547533	The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]	Osteoporosis	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AAGAB	https://www.uniprot.org/uniprot/Q6PD74	https://hpo.jax.org/app/browse/search?q=AAGAB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614888	http://www.informatics.jax.org/searchtool/Search.do?query=AAGAB&submit=Quick%0D%3045ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AAGAB	rs7173826	0.363419	0.2539	0.3641	0.38	5	13	exonic	exonic	exonic	AAGAB	AAGAB	ENSG00000103591	nonsynonymous SNV	nonsynonymous SNV	unknown	AAGAB:NM_001271885:exon4:c.A67C:p.I23L,AAGAB:NM_024666:exon4:c.A394C:p.I132L,AAGAB:NM_001271886:exon4:c.A67C:p.I23L,	AAGAB:uc002aqk.5:exon4:c.A394C:p.I132L,AAGAB:uc010uju.3:exon4:c.A67C:p.I23L,AAGAB:uc031qsm.1:exon4:c.A67C:p.I23L,	UNKNOWN	Het;T>G	606;37|29	Ref		Hom;T>G	2017;0|76
N	N	-	15	74219582	74219582	G	A	snp	nonsynonymous SNV	G458A	G153D	aliphatic,neutral	polar,hydrophilic,charged(-)	LOXL1	Loxl1	ENSG00000129038	lysyl oxidase like 1	chr15:74218330-74244478	This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016]	Aneurysm, Dissecting; Aorta; Cataract|Exfoliation Syndrome|Glaucoma|Glaucoma, Open-Angle; pseudoexfoliation syndrome and glaucoma; normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Exfoliation Syndrome|Glaucoma, Open-Angle|Pigmentation Disorders; Exfoliation Syndrome|Glaucoma, Open-Angle; Glaucoma, Open-Angle; brain aneurysm; Aortic root size; Tobacco Use Disorder; Cardiovascular Diseases|Ventricular Dysfunction, Left; glaucoma (exfoliation); Exfoliation Syndrome|Glaucoma; Fetal Membranes, Premature Rupture|Premature Birth|Uterine Prolapse; Exfoliation Syndrome; Exfoliation Syndrome|	Elastic fiber homeostasis is disrupted in homozygous mutant mice, resulting in loose skin, abnormal lung morphology, intestinal defects, and post partum uterine prolapse.	Crosslinking of collagen fibrils	GO:0018277;protein deamination;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0035904;aorta development;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0001669;acrosomal vesicle;IEA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0031012;extracellular matrix;IDA	GO:0005507;copper ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016641;oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LOXL1	https://www.uniprot.org/uniprot/Q08397		https://www.ncbi.nlm.nih.gov/omim/?term=153456	http://www.informatics.jax.org/searchtool/Search.do?query=LOXL1&submit=Quick%0D%6208ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LOXL1	rs3825942	0.247604	0.2182	0.1849	0.31	4	13	exonic	exonic	exonic	LOXL1	LOXL1	ENSG00000129038	nonsynonymous SNV	nonsynonymous SNV	unknown	LOXL1:NM_005576:exon1:c.G458A:p.G153D,	LOXL1:uc002awc.1:exon1:c.G458A:p.G153D,	UNKNOWN	Het;G>A	2177;92|99	Ref		Hom;G>A	4328;0|161
N	N	-	15	76136768	76136768	C	T	snp	nonsynonymous SNV	C74T	P25L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	UBE2Q2	Ube2q2	ENSG00000140367	ubiquitin conjugating enzyme E2 Q2	chr15:76135622-76193419		Cystatin C; Chronic renal failure|Kidney Failure, Chronic	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;TAS|GO:0070936;protein K48-linked ubiquitination;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UBE2Q2	https://www.uniprot.org/uniprot/Q8WVN8		https://www.ncbi.nlm.nih.gov/omim/?term=612501	http://www.informatics.jax.org/searchtool/Search.do?query=UBE2Q2&submit=Quick%0D%8008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBE2Q2	rs72734531	0.197284	0.1004	0.1990	0.18	2	11	exonic	exonic	exonic	UBE2Q2	UBE2Q2	ENSG00000140367	nonsynonymous SNV	nonsynonymous SNV	unknown	UBE2Q2:NM_001145335:exon1:c.C74T:p.P25L,	UBE2Q2:uc010umn.1:exon1:c.C74T:p.P25L,	UNKNOWN	Het;C>T	849;43|39	Het;C>T	776;47|37	Hom;C>T	1310;0|48
N	N	-	15	79237247	79237247	C	G	snp	nonsynonymous SNV	G77C	C26S	polar,hydrophobic,neutral	polar,hydrophilic,neutral	CTSH	Ctsh	ENSG00000103811	cathepsin H	chr15:79213400-79241916	The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]	type 1 diabetes; bladder cancer; Aging/ Telomere Length; Bipolar Disorder; lung cancer; Diabetes Mellitus, Type 1; lung cancer ; chronic obstructive pulmonary disease; Type 2 Diabetes| edema | rosiglitazone; Type 2 diabetes|reduced prostate cancer risk; diabetes, type 1 ; cognitive trait; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1	Mice homozygous for a reporter allele exhibit impaired lung surfactant and an abnormal eye globe with elongated axial length.	Neutrophil degranulation	GO:0001656;metanephros development;ISS|GO:0001913;T cell mediated cytotoxicity;IEA|GO:0002250;adaptive immune response;IEP|GO:0002764;immune response-regulating signaling pathway;IDA|GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0010634;positive regulation of epithelial cell migration;IEA|GO:0010813;neuropeptide catabolic process;IDA|GO:0010815;bradykinin catabolic process;IDA|GO:0010952;positive regulation of peptidase activity;IDA|GO:0019882;antigen processing and presentation;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0031638;zymogen activation;IDA|GO:0031648;protein destabilization;IMP|GO:0032526;response to retinoic acid;IEA|GO:0033619;membrane protein proteolysis;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043129;surfactant homeostasis;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045766;positive regulation of angiogenesis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:0060448;dichotomous subdivision of terminal units involved in lung branching;IEA|GO:0070371;ERK1 and ERK2 cascade;IDA|GO:0097067;cellular response to thyroid hormone stimulus;IEP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA	GO:0000932;P-body;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IDA|GO:0005829;cytosol;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0097208;alveolar lamellar body;IDA|GO:0097486;multivesicular body lumen;TAS|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0004175;endopeptidase activity;IDA|GO:0004177;aminopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0016505;peptidase activator activity involved in apoptotic process;IEA|GO:0016787;hydrolase activity;IEA|GO:0030108;HLA-A specific activating MHC class I receptor activity;IDA|GO:0070324;thyroid hormone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CTSH	https://www.uniprot.org/uniprot/P09668	https://hpo.jax.org/app/browse/search?q=CTSH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116820	http://www.informatics.jax.org/searchtool/Search.do?query=CTSH&submit=Quick%0D%3058ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSH	rs1036938	0.38738	0.5825	0.6094	0.08	1	13	exonic	exonic	exonic	CTSH	CTSH	ENSG00000103811	nonsynonymous SNV	nonsynonymous SNV	unknown	CTSH:NM_004390:exon1:c.G77C:p.C26S,	CTSH:uc010ung.1:exon1:c.G77C:p.C26S,CTSH:uc021srk.1:exon1:c.G77C:p.C26S,	UNKNOWN	Het;C>G	996;45|44	Het;C>G	1191;41|51	Hom;C>G	2318;0|84
N	N	-	15	79755604	79755604	A	G	snp	nonsynonymous SNV	A2494G	I832V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	KIAA1024	AF529169	ENSG00000169330	KIAA1024	chr15:79724858-79764632		Blood Pressure; Hemoglobin A, Glycosylated; Cholesterol, HDL	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KIAA1024				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1024&submit=Quick%0D%12473ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1024	rs2297773	0.254992	0.2755	0.2048	0.08	1	13	exonic	exonic	exonic	KIAA1024	KIAA1024	ENSG00000169330	nonsynonymous SNV	nonsynonymous SNV	unknown	KIAA1024:NM_015206:exon3:c.A2494G:p.I832V,	KIAA1024:uc010unk.1:exon2:c.A2494G:p.I832V,KIAA1024:uc002bew.1:exon3:c.A2494G:p.I832V,	UNKNOWN	Het;A>G	4055;184|180	Het;A>G	4624;227|206	Hom;A>G	10018;1|359
N	N	-	15	80191343	80191343	G	A	snp	nonsynonymous SNV	C170T	P57L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	ST20	 	ENSG00000180953	suppressor of tumorigenicity 20	chr15:80191182-80216044			 					http://www.genecards.org/index.php?path=/Search/keyword/ST20				http://www.informatics.jax.org/searchtool/Search.do?query=ST20&submit=Quick%0D%14554ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ST20	rs7257	0.419129	0.4854	0.5131	0.09	1	11	exonic	exonic	exonic	ST20	ST20	ENSG00000180953	nonsynonymous SNV	nonsynonymous SNV	unknown	ST20:NM_001100879:exon3:c.C170T:p.P57L,ST20:NM_001199757:exon3:c.C170T:p.P57L,ST20:NM_001100880:exon3:c.C170T:p.P57L,	ST20:uc002bez.4:exon3:c.C170T:p.P57L,ST20:uc021srt.1:exon3:c.C170T:p.P57L,ST20:uc021srs.1:exon3:c.C170T:p.P57L,	UNKNOWN	Het;G>A	1781;72|82	Het;G>A	1380;70|68	Hom;G>A	4419;0|165
N	N	-	15	81578139	81578139	C	T	snp	nonsynonymous SNV	C1300T	P434S	hydrophobic,neutral	polar,hydrophilic,neutral	IL16	Il16	ENSG00000172349	interleukin 16	chr15:81451916-81605104	The protein encoded by this gene is a pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]	Biliary Tract Neoplasms|Inflammation; Neoplasms; longevity; Lymphoma, Large B-Cell, Diffuse; inattentive symptoms; periodontitis; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Papillary|Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; Crohn's disease; respiratory syncytial virus bronchiolitis; Endometriosis|Pain; Celiac Disease|; lung cancer; Leukemia, Lymphocytic, Chronic, B-Cell; Coronary Artery Disease; DNA Damage|Leukemia, Lymphocytic, Chronic, B-Cell; Colorectal Neoplasms|Stomach Neoplasms; Attention Deficit Disorder with Hyperactivity; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Lupus Erythematosus, Systemic; Graves Disease; asthma; hepatitis C; lung cancer ; dermatitis and eczema; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy; Nasopharyngeal Neoplasms; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Lymphoma, Non-Hodgkin	Mice homozygous for a knock-out allele display a transient but consistent increase of thymidine incorporation in anti-CD3-stimulated CD4+ T cells, but fail to show a hyperproliferative T cell phenotype using BrdU labeling.	Other interleukin signaling	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006935;chemotaxis;IEA|GO:0006955;immune response;TAS|GO:0016032;viral process;IEA|GO:0030595;leukocyte chemotaxis;IEA|GO:0050930;induction of positive chemotaxis;IEA|GO:0051924;regulation of calcium ion transport;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016607;nuclear speck;IDA	GO:0005125;cytokine activity;IEA|GO:0042609;CD4 receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IL16			https://www.ncbi.nlm.nih.gov/omim/?term=603035	http://www.informatics.jax.org/searchtool/Search.do?query=IL16&submit=Quick%0D%13138ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL16	rs4072111	0.164537	0.0882	0.1620	0.54	7	13	exonic	exonic	exonic	IL16	IL16	ENSG00000172349	nonsynonymous SNV	nonsynonymous SNV	unknown	IL16:NM_001172128:exon10:c.C1300T:p.P434S,IL16:NM_172217:exon9:c.C1300T:p.P434S,	IL16:uc021ssg.1:exon10:c.C1300T:p.P434S,IL16:uc010unp.2:exon10:c.C1426T:p.P476S,IL16:uc010blq.1:exon12:c.C1300T:p.P434S,IL16:uc002bgg.3:exon10:c.C1300T:p.P434S,IL16:uc021ssh.1:exon9:c.C1300T:p.P434S,	UNKNOWN	Het;C>T	1440;102|68	Het;C>T	1433;88|67	Hom;C>T	3688;2|138
N	N	-	15	83395340	83395340	T	C	snp	nonsynonymous SNV	A493G	M165V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	LOC283693																		rs11633991	0.209864	0	0.2785	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	ACTG1P17	LOC283693	ENSG00000259315,ENSG00000266697	Na	nonsynonymous SNV	Na	Na	LOC283693:uc002bjb.3:exon3:c.A493G:p.M165V,	Na	Het;T>C	1206;48|49	Het;T>C	620;49|31	Hom;T>C	2223;0|78
N	N	-	15	83447631	83447631	T	G	snp	nonsynonymous SNV	A998C	K333T	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	FSD2	Fsd2	ENSG00000186628	fibronectin type III and SPRY domain containing 2	chr15:83424114-83474822	This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]	Carotid Artery Diseases|Plaque, Atherosclerotic	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FSD2				http://www.informatics.jax.org/searchtool/Search.do?query=FSD2&submit=Quick%0D%15682ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FSD2	rs4779061	0.18111	0.1246	0.1945	0.31	4	13	exonic	exonic	exonic	FSD2	FSD2	ENSG00000186628	nonsynonymous SNV	nonsynonymous SNV	unknown	FSD2:NM_001007122:exon6:c.A998C:p.K333T,FSD2:NM_001281805:exon7:c.A998C:p.K333T,FSD2:NM_001281806:exon6:c.A998C:p.K333T,	FSD2:uc002bjd.2:exon6:c.A998C:p.K333T,FSD2:uc010uom.1:exon6:c.A998C:p.K333T,FSD2:uc010uol.1:exon7:c.A998C:p.K333T,	UNKNOWN	Het;T>G	453;33|21	Het;T>G	1289;47|56	Hom;T>G	3070;0|105
N	N	-	15	83499766	83499766	G	A	snp	nonsynonymous SNV	G2057A	R686H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	WHAMM	Whamm	ENSG00000156232	WAS protein homolog associated with actin, golgi membranes and microtubules	chr15:83478380-83503611	This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013]		 		GO:0006888;ER to Golgi vesicle-mediated transport;IDA|GO:0007015;actin filament organization;IDA|GO:0007050;cell cycle arrest;IBA|GO:0030032;lamellipodium assembly;IMP|GO:0034314;Arp2/3 complex-mediated actin nucleation;IBA|GO:0048041;focal adhesion assembly;IMP|GO:0051127;positive regulation of actin nucleation;IDA|GO:0090527;actin filament reorganization;IMP|GO:0097320;plasma membrane tubulation;IDA	GO:0000139;Golgi membrane;IDA|GO:0005737;cytoplasm;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IDA	GO:0003779;actin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0017049;GTP-Rho binding;IDA|GO:0071933;Arp2/3 complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/WHAMM	https://www.uniprot.org/uniprot/Q8TF30		https://www.ncbi.nlm.nih.gov/omim/?term=612393	http://www.informatics.jax.org/searchtool/Search.do?query=WHAMM&submit=Quick%0D%9955ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WHAMM	rs3814281	0.176518	0.1230	0.1652	0.15	2	13	exonic	exonic	exonic	WHAMM	WHAMM	ENSG00000156232	nonsynonymous SNV	nonsynonymous SNV	unknown	WHAMM:NM_001080435:exon9:c.G2057A:p.R686H,	WHAMM:uc002bje.3:exon9:c.G2057A:p.R686H,	UNKNOWN	Het;G>A	1147;72|57	Het;G>A	1150;39|53	Hom;G>A	3056;0|114
N	N	-	15	84488636	84488636	A	G	snp	nonsynonymous SNV	A437G	H146R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ADAMTSL3	Adamtsl3	ENSG00000156218	ADAMTS like 3	chr15:84322838-84708594		Bipolar Disorder; Height; Body Height; Myocardial Infarction; height	 	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3	https://www.uniprot.org/uniprot/P82987		https://www.ncbi.nlm.nih.gov/omim/?term=609199	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3	rs4483821	0.679313	0.5625	0.5401	0.15	2	13	exonic	exonic	exonic	ADAMTSL3	ADAMTSL3	ENSG00000156218	nonsynonymous SNV	nonsynonymous SNV	unknown	ADAMTSL3:NM_207517:exon6:c.A437G:p.H146R,ADAMTSL3:NM_001301110:exon6:c.A437G:p.H146R,	ADAMTSL3:uc002bjz.4:exon6:c.A437G:p.H146R,ADAMTSL3:uc002bjy.1:exon6:c.A437G:p.H146R,ADAMTSL3:uc010bmt.1:exon6:c.A437G:p.H146R,	UNKNOWN	Het;A>G	1356;36|52	Het;A>G	501;28|23	Hom;A>G	1602;0|60
N	N	-	15	84539619	84539619	C	G	snp	nonsynonymous SNV	C868G	L290V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ADAMTSL3	Adamtsl3	ENSG00000156218	ADAMTS like 3	chr15:84322838-84708594		Bipolar Disorder; Height; Body Height; Myocardial Infarction; height	 	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3	https://www.uniprot.org/uniprot/P82987		https://www.ncbi.nlm.nih.gov/omim/?term=609199	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3	rs4144691	0.807508	0.8483	0.8061	0.08	1	13	exonic	exonic	exonic	ADAMTSL3	ADAMTSL3	ENSG00000156218	nonsynonymous SNV	nonsynonymous SNV	unknown	ADAMTSL3:NM_207517:exon9:c.C868G:p.L290V,ADAMTSL3:NM_001301110:exon9:c.C868G:p.L290V,	ADAMTSL3:uc002bjz.4:exon9:c.C868G:p.L290V,ADAMTSL3:uc010bmt.1:exon9:c.C868G:p.L290V,	UNKNOWN	Het;C>G	1611;55|68	Het;C>G	945;68|46	Hom;C>G	3000;1|110
N	N	-	15	84582124	84582124	G	T	snp	nonsynonymous SNV	G1981T	V661L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ADAMTSL3	Adamtsl3	ENSG00000156218	ADAMTS like 3	chr15:84322838-84708594		Bipolar Disorder; Height; Body Height; Myocardial Infarction; height	 	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3	https://www.uniprot.org/uniprot/P82987		https://www.ncbi.nlm.nih.gov/omim/?term=609199	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3	rs4842838	0.685703	0.6182	0.5990	0.08	1	13	exonic	exonic	exonic	ADAMTSL3	ADAMTSL3	ENSG00000156218	nonsynonymous SNV	nonsynonymous SNV	unknown	ADAMTSL3:NM_207517:exon16:c.G1981T:p.V661L,ADAMTSL3:NM_001301110:exon16:c.G1981T:p.V661L,	ADAMTSL3:uc002bjz.4:exon16:c.G1981T:p.V661L,ADAMTSL3:uc010bmt.1:exon16:c.G1981T:p.V661L,	UNKNOWN	Het;G>T	1903;149|92	Het;G>T	2317;113|104	Hom;G>T	5175;3|196
N	N	-	15	90126121	90126121	C	T	snp	nonsynonymous SNV	C859T	R287C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	TICRR	Ticrr	ENSG00000140534	TOPBP1 interacting checkpoint and replication regulator	chr15:90118713-90174287	Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010]	Cholesterol, LDL; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for an ENU-induced allele are mostly hairless, with only a light patch of hair around the face and tail.		GO:0000075;cell cycle checkpoint;ISS|GO:0001731;formation of translation preinitiation complex;ISS|GO:0006260;DNA replication;ISS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0010212;response to ionizing radiation;ISS|GO:0030174;regulation of DNA-dependent DNA replication initiation;IMP|GO:0033314;mitotic DNA replication checkpoint;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA	GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TICRR	https://www.uniprot.org/uniprot/Q7Z2Z1		https://www.ncbi.nlm.nih.gov/omim/?term=613298	http://www.informatics.jax.org/searchtool/Search.do?query=TICRR&submit=Quick%0D%8047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TICRR	rs10775247	0.386581	0.4800	0.5120	0.08	1	13	exonic	exonic	exonic	TICRR	TICRR	ENSG00000140534	nonsynonymous SNV	nonsynonymous SNV	unknown	TICRR:NM_152259:exon2:c.C859T:p.R287C,	TICRR:uc002boe.3:exon2:c.C859T:p.R287C,TICRR:uc021sug.1:exon2:c.C859T:p.R287C,	UNKNOWN	Het;C>T	1656;84|74	Het;C>T	1442;58|65	Hom;C>T	3845;6|146
N	N	-	15	90128966	90128966	C	T	snp	nonsynonymous SNV	C1204T	R402W	polar,hydrophilic,charged(+)	aromatic,hydrophobic,neutral	TICRR	Ticrr	ENSG00000140534	TOPBP1 interacting checkpoint and replication regulator	chr15:90118713-90174287	Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010]	Cholesterol, LDL; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for an ENU-induced allele are mostly hairless, with only a light patch of hair around the face and tail.		GO:0000075;cell cycle checkpoint;ISS|GO:0001731;formation of translation preinitiation complex;ISS|GO:0006260;DNA replication;ISS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0010212;response to ionizing radiation;ISS|GO:0030174;regulation of DNA-dependent DNA replication initiation;IMP|GO:0033314;mitotic DNA replication checkpoint;ISS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA	GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TICRR	https://www.uniprot.org/uniprot/Q7Z2Z1		https://www.ncbi.nlm.nih.gov/omim/?term=613298	http://www.informatics.jax.org/searchtool/Search.do?query=TICRR&submit=Quick%0D%8047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TICRR	rs11629584	0.361621	0.4447	0.4588	0.15	2	13	exonic	exonic	exonic	TICRR	TICRR	ENSG00000140534	nonsynonymous SNV	nonsynonymous SNV	unknown	TICRR:NM_152259:exon4:c.C1204T:p.R402W,	TICRR:uc002boe.3:exon4:c.C1204T:p.R402W,TICRR:uc021sug.1:exon4:c.C1201T:p.R401W,	UNKNOWN	Het;C>T	1628;62|69	Het;C>T	1079;66|50	Hom;C>T	2904;0|103
N	N	-	15	90174824	90174824	C	T	snp	nonsynonymous SNV	G1471A	G491R	aliphatic,neutral	polar,hydrophilic,charged(+)	KIF7	Kif7	ENSG00000166813	kinesin family member 7	chr15:90152020-90198682	This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]	Autosomal Recessive Mental Retardation	Mice homozygous for a knock-out allele exhibit neonatal lethality, exencephaly, polydactyly, abnormal sternum, edema, abnormal ribs, and abnormal neurogenesis.  Mice homozygous for an ENU-induced allele exhibit prenatal lethality, polydactyly, and abnormal neural tube development and neurogenesis.	Hedgehog 'on' state	GO:0007018;microtubule-based movement;IBA|GO:0045879;negative regulation of smoothened signaling pathway;ISS|GO:0045880;positive regulation of smoothened signaling pathway;ISS	GO:0005871;kinesin complex;IBA|GO:0005929;cilium;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF7		https://hpo.jax.org/app/browse/search?q=KIF7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611254	http://www.informatics.jax.org/searchtool/Search.do?query=KIF7&submit=Quick%0D%11869ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF7	rs12900805	0.439297	0.5313	0.5128	0.15	2	13	exonic	exonic	exonic	KIF7	KIF7	ENSG00000166813	nonsynonymous SNV	nonsynonymous SNV	unknown	KIF7:NM_198525:exon15:c.G3013A:p.G1005R,	KIF7:uc010upw.1:exon10:c.G1471A:p.G491R,KIF7:uc002bof.2:exon15:c.G3013A:p.G1005R,	UNKNOWN	Het;C>T	730;44|33	Het;C>T	802;37|37	Hom;C>T	1730;0|61
N	N	-	15	90176073	90176073	C	A	snp	nonsynonymous SNV	G1331T	S444I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	KIF7	Kif7	ENSG00000166813	kinesin family member 7	chr15:90152020-90198682	This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]	Autosomal Recessive Mental Retardation	Mice homozygous for a knock-out allele exhibit neonatal lethality, exencephaly, polydactyly, abnormal sternum, edema, abnormal ribs, and abnormal neurogenesis.  Mice homozygous for an ENU-induced allele exhibit prenatal lethality, polydactyly, and abnormal neural tube development and neurogenesis.	Hedgehog 'on' state	GO:0007018;microtubule-based movement;IBA|GO:0045879;negative regulation of smoothened signaling pathway;ISS|GO:0045880;positive regulation of smoothened signaling pathway;ISS	GO:0005871;kinesin complex;IBA|GO:0005929;cilium;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KIF7		https://hpo.jax.org/app/browse/search?q=KIF7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611254	http://www.informatics.jax.org/searchtool/Search.do?query=KIF7&submit=Quick%0D%11869ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF7	rs3803530	0.438299	0.5373	0.5255	0.31	4	13	exonic	exonic	exonic	KIF7	KIF7	ENSG00000166813	nonsynonymous SNV	nonsynonymous SNV	unknown	KIF7:NM_198525:exon14:c.G2873T:p.S958I,	KIF7:uc010upw.1:exon9:c.G1331T:p.S444I,KIF7:uc002bof.2:exon14:c.G2873T:p.S958I,	UNKNOWN	Het;C>A	239;29|14	Het;C>A	345;43|22	Hom;C>A	814;0|31
N	N	-	15	92647645	92647645	G	C	snp	nonsynonymous SNV	G882C	E294D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	SLCO3A1	Slco3a1	ENSG00000176463	solute carrier organic anion transporter family member 3A1	chr15:92396925-92715665		response to iloperidone treatment (QT prolongation); Precursor Cell Lymphoblastic Leukemia-Lymphoma; Calcium; schizophrenia; Attention Deficit Disorder with Hyperactivity; Hypertension; Erythrocyte Count; Isoxazoles; inattentive symptoms; Tobacco Use Disorder	Mice for a null endonuclease-mediated mutation exhibit shorter survival times, increased hepatic levels of bile acid, and develop more liver injury after induction of cholestasis.	Transport of organic anions	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0043252;sodium-independent organic anion transport;TAS	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLCO3A1			https://www.ncbi.nlm.nih.gov/omim/?term=612435	http://www.informatics.jax.org/searchtool/Search.do?query=SLCO3A1&submit=Quick%0D%13863ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO3A1	rs1517618	0.902556	0.8511	0.8635	0.15	2	13	exonic	exonic	exonic	SLCO3A1	SLCO3A1	ENSG00000176463	nonsynonymous SNV	nonsynonymous SNV	unknown	SLCO3A1:NM_001145044:exon4:c.G882C:p.E294D,SLCO3A1:NM_013272:exon4:c.G882C:p.E294D,	SLCO3A1:uc002bqy.2:exon4:c.G882C:p.E294D,SLCO3A1:uc002bqx.2:exon4:c.G882C:p.E294D,SLCO3A1:uc002bqz.1:exon5:c.G708C:p.E236D,	UNKNOWN	Het;G>C	1609;84|71	Het;G>C	1866;82|84	Hom;G>C	3612;0|133
N	N	-	15	94945719	94945719	G	T	snp	nonsynonymous SNV	G854T	R285L	polar,hydrophilic,charged(+)	aliphatic,hydrophobic,neutral	MCTP2	Mctp2	ENSG00000140563	multiple C2 and transmembrane domain containing 2	chr15:94774767-95023632		Behcet Syndrome; Conduct Disorder; Myocardial Infarction; Echocardiography; Body Weight; depression; Memory; Coronary Artery Disease; Blood Pressure Determination; schizophrenia; Alkaline Phosphatase; Triglycerides; Aorta; Body Mass Index; von Willebrand Factor; drug-induced liver injury (flucloxacillin); Cholesterol, HDL; Death, Sudden, Cardiac; Cognitive performance ; Tobacco Use Disorder; Lipids; Hip; Alcoholism; Drug-Induced Liver Injury; Hypertrophy, Left Ventricular; Coronary Disease; C-Reactive Protein; Body Composition	 		GO:0007275;multicellular organism development;IEA|GO:0019722;calcium-mediated signaling;NAS	GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IBA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA	GO:0005509;calcium ion binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MCTP2	https://www.uniprot.org/uniprot/Q6DN12	https://hpo.jax.org/app/browse/search?q=MCTP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616297	http://www.informatics.jax.org/searchtool/Search.do?query=MCTP2&submit=Quick%0D%8054ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCTP2	rs7178698	0.620407	0.7312	0.7175	0.09	1	11	exonic	exonic	exonic	MCTP2	MCTP2	ENSG00000140563	nonsynonymous SNV	nonsynonymous SNV	unknown	MCTP2:NM_001159644:exon10:c.G854T:p.R285L,	MCTP2:uc002btk.4:exon10:c.G854T:p.R285L,	UNKNOWN	Het;G>T	1086;70|52	Ref		Hom;G>T	4012;0|152
N	N	-	15	99511873	99511873	G	A	snp	nonsynonymous SNV	C263T	A88V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PGPEP1L	Pgpep1l	ENSG00000183571	pyroglutamyl-peptidase I-like	chr15:99511459-99551024		Glucose	 		GO:0006508;proteolysis;IEA	GO:0005829;cytosol;IBA	GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016920;pyroglutamyl-peptidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PGPEP1L				http://www.informatics.jax.org/searchtool/Search.do?query=PGPEP1L&submit=Quick%0D%15013ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PGPEP1L	rs2715423	0.127396	0.2142	0.2995	0.46	6	13	exonic	exonic	exonic	PGPEP1L	PGPEP1L	ENSG00000183571	nonsynonymous SNV	nonsynonymous SNV	unknown	PGPEP1L:NM_001102612:exon5:c.C425T:p.A142V,PGPEP1L:NM_001167902:exon5:c.C263T:p.A88V,	PGPEP1L:uc002bun.3:exon5:c.C263T:p.A88V,PGPEP1L:uc010bop.3:exon4:c.C259T:p.R87W,PGPEP1L:uc002bum.3:exon5:c.C425T:p.A142V,	UNKNOWN	Het;G>A	1658;92|77	Ref		Hom;G>A	3554;2|129
N	N	-	16	10769958	10769958	T	C	snp	nonsynonymous SNV	A944G	Q315R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	TEKT5	Tekt5	ENSG00000153060	tektin 5	chr16:10721358-10788802		Cholesterol; Cholesterol, LDL; Hemoglobin A, Glycosylated; Alcoholism; Neutrophils; Tobacco Use Disorder	 		GO:0030317;flagellated sperm motility;IBA|GO:0060271;cilium assembly;IBA|GO:0060294;cilium movement involved in cell motility;IBA	GO:0005634;nucleus;IDA|GO:0005929;cilium;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TEKT5	https://www.uniprot.org/uniprot/Q96M29			http://www.informatics.jax.org/searchtool/Search.do?query=TEKT5&submit=Quick%0D%9622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEKT5	rs2719710	0.634185	0.4813	0.5002	0.08	1	13	exonic	exonic	exonic	TEKT5	TEKT5	ENSG00000153060	nonsynonymous SNV	nonsynonymous SNV	unknown	TEKT5:NM_144674:exon5:c.A944G:p.Q315R,	TEKT5:uc002czz.1:exon5:c.A944G:p.Q315R,	UNKNOWN	Het;T>C	2778;120|127	Ref		Hom;T>C	5415;0|202
N	N	-	16	10783113	10783113	A	G	snp	nonsynonymous SNV	T716C	M239T	hydrophobic,neutral	polar,hydrophilic,neutral	TEKT5	Tekt5	ENSG00000153060	tektin 5	chr16:10721358-10788802		Cholesterol; Cholesterol, LDL; Hemoglobin A, Glycosylated; Alcoholism; Neutrophils; Tobacco Use Disorder	 		GO:0030317;flagellated sperm motility;IBA|GO:0060271;cilium assembly;IBA|GO:0060294;cilium movement involved in cell motility;IBA	GO:0005634;nucleus;IDA|GO:0005929;cilium;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TEKT5	https://www.uniprot.org/uniprot/Q96M29			http://www.informatics.jax.org/searchtool/Search.do?query=TEKT5&submit=Quick%0D%9622ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEKT5	rs17684500	0.0666933	0.0018	0.0358	0.46	6	13	exonic	exonic	exonic	TEKT5	TEKT5	ENSG00000153060	nonsynonymous SNV	nonsynonymous SNV	unknown	TEKT5:NM_144674:exon3:c.T716C:p.M239T,	TEKT5:uc002czz.1:exon3:c.T716C:p.M239T,	UNKNOWN	Het;A>G	579;60|33	Ref		Hom;A>G	1147;2|42
N	N	-	16	11367154	11367154	C	T	snp	nonsynonymous SNV	G299A	R100Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	PRM3	Prm3	ENSG00000178257	protamine 3	chr16:11367144-11367452		Infertility, Male; type 1 diabetes	Males that are null homozygous for this gene have reduced sperm motility.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008150;biological_process;ND|GO:0030154;cell differentiation;IEA|GO:0030261;chromosome condensation;IEA|GO:0030317;flagellated sperm motility;IEA	GO:0000786;nucleosome;IEA|GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA	GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRM3				http://www.informatics.jax.org/searchtool/Search.do?query=PRM3&submit=Quick%0D%14162ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRM3	rs429744	0.770168	0.8963	0.8790	0.10	1	10	exonic	exonic	exonic	PRM3	PRM3	ENSG00000178257	nonsynonymous SNV	nonsynonymous SNV	unknown	PRM3:NM_021247:exon1:c.G299A:p.R100Q,	PRM3:uc002dat.1:exon1:c.G299A:p.R100Q,	UNKNOWN	Het;C>T	458;15|15	Het;C>T	444;12|13	Hom;C>T	1695;0|41
N	N	-	16	1484392	1484392	G	C	snp	stopgain	C318G	Y106X	aromatic,polar,hydrophobic	 	CCDC154	Ccdc154	ENSG00000197599	coiled-coil domain containing 154	chr16:1484384-1494557			Mice homozygous for a knock-out allele exhibit failure of tooth eruption, osteopetrosis, enlarged liver, decreased body size and premature death unless fed a liquid diet.			GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CCDC154				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC154&submit=Quick%0D%16670ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC154	rs12598718	0.573283	0.5344	0.5885	1	0	0	UTR3	exonic	UTR3	CCDC154(NM_001143980:c.*17C>G)	CCDC154	ENSG00000197599(ENST00000483702:c.*400C>G,ENST00000409671:c.*17C>G,ENST00000389176:c.*17C>G)	Na	stopgain	Na	Na	CCDC154:uc010brp.3:exon3:c.C318G:p.Y106X,	Na	Het;G>C	570;28|25	Het;G>C	567;31|26	Hom;G>C	1891;0|66
N	N	-	16	2821573	2821573	C	T	snp	nonsynonymous SNV	G386A	S129N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TCEB2	 																	rs8017	0.413738	0.4495	0.4820	0.09	1	11	exonic	exonic	exonic	TCEB2	TCEB2	ENSG00000103363	nonsynonymous SNV	nonsynonymous SNV	unknown	TCEB2:NM_207013:exon5:c.G386A:p.S129N,	TCEB2:uc002crm.3:exon5:c.G386A:p.S129N,	UNKNOWN	Het;C>T	1425;54|64	Het;C>T	640;47|33	Hom;C>T	2391;0|91
N	N	-	16	3065596	3065596	T	C	snp	nonsynonymous SNV	A427G	I143V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CLDN6	Cldn6	ENSG00000184697	claudin 6	chr16:3064713-3070072	Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. This gene encodes a component of tight junction strands, which is a member of the claudin family. The protein is an integral membrane protein and is one of the entry cofactors for hepatitis C virus. The gene methylation may be involved in esophageal tumorigenesis. This gene is adjacent to another family member CLDN9 on chromosome 16.[provided by RefSeq, Aug 2010]	benzene haematotoxicity	Mice homozygous for a null allele do not exhibit overt abnormalities.	Tight junction interactions	GO:0016032;viral process;IEA|GO:0016338;calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules;ISS|GO:0045216;cell-cell junction organization;IEA|GO:0046718;viral entry into host cell;IEA	GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0030054;cell junction;IEA	GO:0001618;virus receptor activity;IMP|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CLDN6			https://www.ncbi.nlm.nih.gov/omim/?term=615798	http://www.informatics.jax.org/searchtool/Search.do?query=CLDN6&submit=Quick%0D%15257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLDN6	rs2257295	0.298922	0.3857	0.3614	0.23	3	13	exonic	exonic	exonic	CLDN6	CLDN6	ENSG00000184697	nonsynonymous SNV	nonsynonymous SNV	unknown	CLDN6:NM_021195:exon2:c.A427G:p.I143V,	CLDN6:uc021tbb.1:exon1:c.A427G:p.I143V,CLDN6:uc002csu.4:exon2:c.A427G:p.I143V,	UNKNOWN	Het;T>C	1947;120|87	Het;T>C	1544;92|68	Hom;T>C	4156;0|153
N	N	-	16	3079685	3079685	T	C	snp	nonsynonymous SNV	A818G	Q273R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	CCDC64B	Ccdc64b																	rs2244494	0.245407	0.2362	0.3613	0.62	8	13	exonic	exonic	exonic	CCDC64B	CCDC64B	ENSG00000162069	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC64B:NM_001103175:exon5:c.A818G:p.Q273R,	CCDC64B:uc002ctf.4:exon5:c.A818G:p.Q273R,CCDC64B:uc002cte.4:exon4:c.A197G:p.Q66R,	UNKNOWN	Het;T>C	77;17|6	Het;T>C	50;9|3	Hom;T>C	296;0|12
N	N	-	16	3085335	3085335	G	C	snp	nonsynonymous SNV	C163G	Q55E	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	CCDC64B	Ccdc64b																	rs7204908	0.273562	0.3366	0.4595	0.31	4	13	exonic	exonic	exonic	CCDC64B	CCDC64B	ENSG00000162069	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC64B:NM_001103175:exon1:c.C163G:p.Q55E,	CCDC64B:uc002ctf.4:exon1:c.C163G:p.Q55E,	UNKNOWN	Het;G>C	732;65|35	Het;G>C	840;36|40	Hom;G>C	2698;0|100
N	N	-	16	3109032	3109032	G	A	snp	nonsynonymous SNV	G1622A	G541E	aliphatic,neutral	polar,hydrophilic,charged(-)	MMP25	Mmp25	ENSG00000008516	matrix metallopeptidase 25	chr16:3096682-3110727	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily, attached to the plasma membrane via a glycosylphosphatidyl inositol anchor. In response to bacterial infection or inflammation, the encoded protein is thought to inactivate alpha-1 proteinase inhibitor, a major tissue protectant against proteolytic enzymes released by activated neutrophils, facilitating the transendothelial migration of neutrophils to inflammatory sites. The encoded protein may also play a role in tumor invasion and metastasis through activation of MMP2. The gene has previously been referred to as MMP20 but has been renamed MMP25. [provided by RefSeq, Jul 2008]	Cleft Lip|Cleft Palate; Type 2 Diabetes| edema | rosiglitazone; kidney aging; Hepatitis C, Chronic|Liver Cirrhosis	 	Neutrophil degranulation	GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;NAS|GO:0043312;neutrophil degranulation;TAS|GO:0060022;hard palate development;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0031225;anchored component of membrane;IEA|GO:0035579;specific granule membrane;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MMP25	https://www.uniprot.org/uniprot/Q9NPA2		https://www.ncbi.nlm.nih.gov/omim/?term=608482	http://www.informatics.jax.org/searchtool/Search.do?query=MMP25&submit=Quick%0D%485ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP25	rs7188234	0.090655	0.1116	0.1173	0.08	1	13	exonic	exonic	exonic	MMP25	MMP25	ENSG00000008516	nonsynonymous SNV	nonsynonymous SNV	unknown	MMP25:NM_022468:exon10:c.G1622A:p.G541E,	MMP25:uc002cth.3:exon10:c.G1622A:p.G541E,	UNKNOWN	Het;G>A	1788;82|71	Het;G>A	1454;82|65	Hom;G>A	4211;2|150
N	N	-	16	4445327	4445327	C	T	snp	nonsynonymous SNV	G524A	R175Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	CORO7	Coro7	ENSG00000282725	coronin 7	chr16:4404543-4475706	Coronins, such as CORO7, constitute an evolutionarily conserved family of WD-repeat actin-binding proteins. CORO7 plays a role in Golgi complex morphology and function (Rybakin et al., 2004, 2006 [PubMed 15327992] [PubMed 16905771]).[supplied by OMIM, Mar 2008]	Tobacco Use Disorder	Mice homozygous for a knock-out allele are viable and overtly normal but exhibit disruption of the Golgi apparatus. Mutant fibroblasts show increased cell spreading and cellular F-actin content, increased cell polarization and migration, and enhanced wound healing in a scratch-wound assay.		GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;IMP|GO:0015031;protein transport;IEA|GO:0030041;actin filament polymerization;IMP	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA	GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CORO7			https://www.ncbi.nlm.nih.gov/omim/?term=611668	http://www.informatics.jax.org/searchtool/Search.do?query=CORO7&submit=Quick%0D%22589ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CORO7	rs3747579	0.507388	0.5476	0.6499	0.62	8	13	exonic	exonic	exonic	CORO7,CORO7-PAM16	CORO7,CORO7-PAM16	ENSG00000103426,ENSG00000262246	nonsynonymous SNV	nonsynonymous SNV	unknown	CORO7:NM_024535:exon7:c.G578A:p.R193Q,CORO7-PAM16:NM_001201479:exon7:c.G578A:p.R193Q,CORO7:NM_001201473:exon5:c.G323A:p.R108Q,CORO7:NM_001201472:exon7:c.G524A:p.R175Q,	CORO7:uc010uxh.2:exon7:c.G524A:p.R175Q,CORO7:uc010uxi.2:exon5:c.G323A:p.R108Q,CORO7:uc002cwh.4:exon7:c.G578A:p.R193Q,CORO7-PAM16:uc002cwf.3:exon7:c.G578A:p.R193Q,	UNKNOWN	Het;C>T	845;35|35	Het;C>T	789;27|35	Hom;C>T	1533;0|59
N	N	-	16	4484396	4484396	A	T	snp	nonsynonymous SNV	A223T	N75Y	polar,hydrophilic,neutral	aromatic,polar,hydrophobic	DNAJA3	Dnaja3	ENSG00000276726	DnaJ heat shock protein family (Hsp40) member A3	chr16:4475806-4506776	This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]	longevity; Acquired Immunodeficiency Syndrome|Disease Progression	Early embryonic development of homozygous null embryos is disrupted. Blastocysts develop and implant but die afterwards.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006457;protein folding;IEA|GO:0006915;apoptotic process;IEA|GO:0007005;mitochondrion organization;IBA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009408;response to heat;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;ISS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IDA|GO:0005829;cytosol;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0019897;extrinsic component of plasma membrane;ISS|GO:0030054;cell junction;IEA|GO:0031594;neuromuscular junction;ISS|GO:0042645;mitochondrial nucleoid;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031072;heat shock protein binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAJA3	https://www.uniprot.org/uniprot/Q96EY1		https://www.ncbi.nlm.nih.gov/omim/?term=608382	http://www.informatics.jax.org/searchtool/Search.do?query=DNAJA3&submit=Quick%0D%21670ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJA3	rs1139653	0.634984	0.7031	0.6834	0.15	2	13	exonic	exonic	exonic	DNAJA3	DNAJA3	ENSG00000103423	nonsynonymous SNV	nonsynonymous SNV	unknown	DNAJA3:NM_001135110:exon2:c.A223T:p.N75Y,DNAJA3:NM_005147:exon2:c.A223T:p.N75Y,	DNAJA3:uc002cwl.3:exon2:c.A223T:p.N75Y,DNAJA3:uc002cwk.3:exon2:c.A223T:p.N75Y,	UNKNOWN	Het;A>T	1253;78|64	Het;A>T	927;54|49	Hom;A>T	3368;0|130
N	N	-	16	624114	624114	A	G	snp	nonsynonymous SNV	A40G	T14A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	PIGQ	Pigq	ENSG00000007541	phosphatidylinositol glycan anchor biosynthesis class Q	chr16:616995-634136	This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension	 	Synthesis of glycosylphosphatidylinositol (GPI)	GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS	GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIGQ	https://www.uniprot.org/uniprot/Q9BRB3		https://www.ncbi.nlm.nih.gov/omim/?term=605754	http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ	rs2071979	0.531949	0.4318	0.4908	0.23	3	13	exonic	exonic	exonic	PIGQ	PIGQ	ENSG00000007541	nonsynonymous SNV	nonsynonymous SNV	unknown	PIGQ:NM_148920:exon2:c.A40G:p.T14A,PIGQ:NM_004204:exon2:c.A40G:p.T14A,	PIGQ:uc002chm.3:exon2:c.A40G:p.T14A,PIGQ:uc002cho.3:exon2:c.A40G:p.T14A,PIGQ:uc010bqw.3:exon3:c.A40G:p.T14A,PIGQ:uc010uui.2:exon2:c.A82G:p.T28A,PIGQ:uc002chn.3:exon2:c.A40G:p.T14A,	UNKNOWN	Het;A>G	1250;68|57	Het;A>G	1299;60|57	Hom;A>G	1748;0|63
N	N	-	16	632138	632138	C	T	snp	nonsynonymous SNV	C70T	R24W	polar,hydrophilic,charged(+)	aromatic,hydrophobic,neutral	PIGQ	Pigq	ENSG00000007541	phosphatidylinositol glycan anchor biosynthesis class Q	chr16:616995-634136	This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension	 	Synthesis of glycosylphosphatidylinositol (GPI)	GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS	GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIGQ	https://www.uniprot.org/uniprot/Q9BRB3		https://www.ncbi.nlm.nih.gov/omim/?term=605754	http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ	rs4262946	0.449281	0	0.4862	1	0	0	intronic	exonic	intronic	PIGQ	PIGQ	ENSG00000007541	Na	nonsynonymous SNV	Na	Na	PIGQ:uc002chp.3:exon1:c.C70T:p.R24W,	Na	Het;C>T	141;8|7	Het;C>T	114;3|5	Hom;C>T	152;0|5
N	N	-	16	632180	632180	G	C	snp	nonsynonymous SNV	G112C	A38P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	PIGQ	Pigq	ENSG00000007541	phosphatidylinositol glycan anchor biosynthesis class Q	chr16:616995-634136	This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension	 	Synthesis of glycosylphosphatidylinositol (GPI)	GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS	GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIGQ	https://www.uniprot.org/uniprot/Q9BRB3		https://www.ncbi.nlm.nih.gov/omim/?term=605754	http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ	rs4984897	0.528754	0	0.5068	1	0	0	intronic	exonic	intronic	PIGQ	PIGQ	ENSG00000007541	Na	nonsynonymous SNV	Na	Na	PIGQ:uc002chp.3:exon1:c.G112C:p.A38P,	Na	Het;G>C	381;12|15	Het;G>C	202;5|8	Hom;G>C	509;0|18
N	N	-	16	632198	632198	T	A	snp	nonsynonymous SNV	T130A	W44R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	PIGQ	Pigq	ENSG00000007541	phosphatidylinositol glycan anchor biosynthesis class Q	chr16:616995-634136	This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension	 	Synthesis of glycosylphosphatidylinositol (GPI)	GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS	GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIGQ	https://www.uniprot.org/uniprot/Q9BRB3		https://www.ncbi.nlm.nih.gov/omim/?term=605754	http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ	rs916416	0.528954	0.4017	0.5163	1	0	0	intronic	exonic	intronic	PIGQ	PIGQ	ENSG00000007541	Na	nonsynonymous SNV	Na	Na	PIGQ:uc002chp.3:exon1:c.T130A:p.W44R,	Na	Het;T>A	505;17|19	Het;T>A	253;6|10	Hom;T>A	639;0|23
N	N	-	16	632225	632225	T	C	snp	nonsynonymous SNV	T157C	S53P	polar,hydrophilic,neutral	hydrophobic,neutral	PIGQ	Pigq	ENSG00000007541	phosphatidylinositol glycan anchor biosynthesis class Q	chr16:616995-634136	This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension	 	Synthesis of glycosylphosphatidylinositol (GPI)	GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS	GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIGQ	https://www.uniprot.org/uniprot/Q9BRB3		https://www.ncbi.nlm.nih.gov/omim/?term=605754	http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ	rs4006748	0.528754	0.3952	0.5179	1	0	0	intronic	exonic	intronic	PIGQ	PIGQ	ENSG00000007541	Na	nonsynonymous SNV	Na	Na	PIGQ:uc002chp.3:exon1:c.T157C:p.S53P,	Na	Het;T>C	860;26|23	Het;T>C	512;16|13	Hom;T>C	1761;0|37
N	N	-	16	632230	632231	CG	C	indel	frameshift substitution	162_163C	 	 	 	PIGQ	Pigq	ENSG00000007541	phosphatidylinositol glycan anchor biosynthesis class Q	chr16:616995-634136	This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension	 	Synthesis of glycosylphosphatidylinositol (GPI)	GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS	GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIGQ	https://www.uniprot.org/uniprot/Q9BRB3		https://www.ncbi.nlm.nih.gov/omim/?term=605754	http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ	rs67976359	0.521765	0.4132	0.5140	1	0	0	intronic	exonic	intronic	PIGQ	PIGQ	ENSG00000007541	Na	frameshift substitution	Na	Na	PIGQ:uc002chp.3:exon1:c.162_163C,	Na	Het;-G	925;26|24	Het;-G	588;16|15	Hom;-G	1752;0|40
N	N	-	16	633125	633125	T	C	snp	nonsynonymous SNV	T1774C	C592R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	PIGQ	Pigq	ENSG00000007541	phosphatidylinositol glycan anchor biosynthesis class Q	chr16:616995-634136	This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension	 	Synthesis of glycosylphosphatidylinositol (GPI)	GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS	GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIGQ	https://www.uniprot.org/uniprot/Q9BRB3		https://www.ncbi.nlm.nih.gov/omim/?term=605754	http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ	rs1045277	0.530751	0.4302	0.4907	0.17	2	12	exonic	exonic	exonic	PIGQ	PIGQ	ENSG00000007541	nonsynonymous SNV	nonsynonymous SNV	unknown	PIGQ:NM_148920:exon10:c.T1774C:p.C592R,	PIGQ:uc002cho.3:exon10:c.T1774C:p.C592R,PIGQ:uc002chp.3:exon2:c.T484C:p.C162R,	UNKNOWN	Het;T>C	1502;108|70	Het;T>C	1403;73|55	Hom;T>C	3915;0|146
N	N	-	16	633353	633353	T	C	snp	nonsynonymous SNV	T2002C	C668R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	PIGQ	Pigq	ENSG00000007541	phosphatidylinositol glycan anchor biosynthesis class Q	chr16:616995-634136	This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension	 	Synthesis of glycosylphosphatidylinositol (GPI)	GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS	GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIGQ	https://www.uniprot.org/uniprot/Q9BRB3		https://www.ncbi.nlm.nih.gov/omim/?term=605754	http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ	rs710924	0.530551	0.4094	0.4911	0.17	2	12	exonic	exonic	exonic	PIGQ	PIGQ	ENSG00000007541	nonsynonymous SNV	nonsynonymous SNV	unknown	PIGQ:NM_148920:exon10:c.T2002C:p.C668R,	PIGQ:uc002cho.3:exon10:c.T2002C:p.C668R,PIGQ:uc002chp.3:exon2:c.T712C:p.C238R,PIGQ:uc010uuj.2:exon1:c.A433G:p.T145A,	UNKNOWN	Het;T>C	3859;113|101	Het;T>C	3656;87|94	Hom;T>C	7869;0|176
N	N	-	16	633354	633354	G	A	snp	nonsynonymous SNV	G2003A	C668Y	polar,hydrophobic,neutral	aromatic,polar,hydrophobic	PIGQ	Pigq	ENSG00000007541	phosphatidylinositol glycan anchor biosynthesis class Q	chr16:616995-634136	This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]	Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension	 	Synthesis of glycosylphosphatidylinositol (GPI)	GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS	GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIGQ	https://www.uniprot.org/uniprot/Q9BRB3		https://www.ncbi.nlm.nih.gov/omim/?term=605754	http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ	rs710925	0.530152	0.4091	0.4909	0.17	2	12	exonic	exonic	exonic	PIGQ	PIGQ	ENSG00000007541	nonsynonymous SNV	nonsynonymous SNV	unknown	PIGQ:NM_148920:exon10:c.G2003A:p.C668Y,	PIGQ:uc002cho.3:exon10:c.G2003A:p.C668Y,PIGQ:uc002chp.3:exon2:c.G713A:p.C238Y,	UNKNOWN	Het;G>A	3859;111|102	Het;G>A	3656;88|94	Hom;G>A	7869;0|176
16_101.974_110.974	Chr16:79461830-82833302	0.225	16	81056441	81056441	T	G	snp	stoploss	T613G	X205E	 	polar,hydrophilic,charged(-)	CENPN	Cenpn	ENSG00000166451	centromere protein N	chr16:81040103-81066719	The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]	smoking cessation	 	Mitotic Prometaphase	GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0034508;centromere complex assembly;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS		http://www.genecards.org/index.php?path=/Search/keyword/CENPN			https://www.ncbi.nlm.nih.gov/omim/?term=611509	http://www.informatics.jax.org/searchtool/Search.do?query=CENPN&submit=Quick%0D%11797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPN	rs3743503	0.132588	0.0998	0.1412	0.25	1	4	exonic	exonic	exonic	CENPN	CENPN	ENSG00000166451	stoploss	stoploss	unknown	CENPN:NM_018455:exon7:c.T613G:p.X205E,	CENPN:uc002ffw.4:exon7:c.T613G:p.X205E,	UNKNOWN	Het;T>G	1755;64|73	Het;T>G	1219;52|54	Hom;T>G	3716;0|138
16_101.974_110.974	Chr16:79461830-82833302	0.225	16	81094951	81094951	A	G	snp	nonsynonymous SNV	T1003C	Y335H	aromatic,polar,hydrophobic	aromatic,polar,hydrophilic,charged(+)	C16orf46	1700030J22Rik	ENSG00000166455	chromosome 16 open reading frame 46	chr16:81087102-81110872		Attention deficit hyperactivity disorder and conduct disorder; smoking cessation; Tobacco Use Disorder; Body Weights and Measures	 			GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA		http://www.genecards.org/index.php?path=/Search/keyword/C16orf46				http://www.informatics.jax.org/searchtool/Search.do?query=C16orf46&submit=Quick%0D%11800ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C16orf46	rs10459872	0.104633	0.0654	0.1022	0.08	1	13	exonic	exonic	exonic	C16orf46	C16orf46	ENSG00000166455	nonsynonymous SNV	nonsynonymous SNV	unknown	C16orf46:NM_152337:exon4:c.T1003C:p.Y335H,C16orf46:NM_001100873:exon3:c.T1003C:p.Y335H,	C16orf46:uc010chf.3:exon3:c.T1003C:p.Y335H,C16orf46:uc002fgc.4:exon4:c.T1003C:p.Y335H,	UNKNOWN	Het;A>G	1256;64|52	Het;A>G	2131;66|90	Hom;A>G	3965;0|130
16_101.974_110.974	Chr16:79461830-82833302	0.225	16	81208512	81208512	A	C	snp	nonsynonymous SNV	T2591G	L864R	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	PKD1L2	Pkd1l2	ENSG00000166473	polycystin 1 like 2 (gene/pseudogene)	chr16:81134480-81253975	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]	Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2			https://www.ncbi.nlm.nih.gov/omim/?term=607894	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2	rs199798228	0.00219649	0.0004	0.0027	0.09	1	11	exonic	exonic	exonic	PKD1L2	PKD1L2	ENSG00000166473	nonsynonymous SNV	nonsynonymous SNV	unknown	PKD1L2:NM_001278423:exon5:c.T536G:p.L179R,PKD1L2:NM_001076780:exon16:c.T2591G:p.L864R,	PKD1L2:uc002fgj.3:exon16:c.T2591G:p.L864R,PKD1L2:uc002fgl.1:exon4:c.T359G:p.L120R,PKD1L2:uc002fgi.3:exon5:c.T536G:p.L179R,PKD1L2:uc002fgk.1:exon3:c.T17G:p.L6R,	UNKNOWN	Het;A>C	777;21|32	Het;A>C	436;24|22	Hom;A>C	1324;4|53
16_101.974_110.974	Chr16:79461830-82833302	0.225	16	81213378	81213378	A	G	snp	nonsynonymous SNV	T2132C	L711P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	PKD1L2	Pkd1l2	ENSG00000166473	polycystin 1 like 2 (gene/pseudogene)	chr16:81134480-81253975	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]	Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2			https://www.ncbi.nlm.nih.gov/omim/?term=607894	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2	rs4889261	0.80012	0.8006	0.8196	0.27	3	11	exonic	exonic	exonic	PKD1L2	PKD1L2	ENSG00000166473	nonsynonymous SNV	nonsynonymous SNV	unknown	PKD1L2:NM_001278423:exon2:c.T77C:p.L26P,PKD1L2:NM_001076780:exon13:c.T2132C:p.L711P,	PKD1L2:uc002fgj.3:exon13:c.T2132C:p.L711P,PKD1L2:uc002fgl.1:exon2:c.T77C:p.L26P,PKD1L2:uc002fgi.3:exon2:c.T77C:p.L26P,	UNKNOWN	Het;A>G	687;48|34	Het;A>G	441;49|27	Hom;A>G	2401;0|88
16_101.974_110.974	Chr16:79461830-82833302	0.225	16	81314496	81314496	C	T	snp	nonsynonymous SNV	C929T	A310V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	BCMO1																		rs7501331	0.152157	0.1716	0.2125	0.38	5	13	exonic	exonic	exonic	BCO1	BCMO1	ENSG00000135697	nonsynonymous SNV	nonsynonymous SNV	unknown	BCO1:NM_017429:exon8:c.C1136T:p.A379V,	BCMO1:uc010vnp.1:exon7:c.C929T:p.A310V,BCMO1:uc002fgn.1:exon8:c.C1136T:p.A379V,	UNKNOWN	Het;C>T	710;89|38	Het;C>T	745;78|42	Hom;C>T	3062;0|116
16_101.974_110.974	Chr16:79461830-82833302	0.225	16	82033810	82033810	G	A	snp	stopgain	C88T	Q30X	polar,hydrophilic,neutral	 	SDR42E1	Sdr42e1	ENSG00000184860	short chain dehydrogenase/reductase family 42E, member 1	chr16:82031221-82045093			 		GO:0006694;steroid biosynthetic process;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0003854;3-beta-hydroxy-delta5-steroid dehydrogenase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SDR42E1			https://www.ncbi.nlm.nih.gov/omim/?term=616164	http://www.informatics.jax.org/searchtool/Search.do?query=SDR42E1&submit=Quick%0D%15284ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDR42E1	rs11542462	0.0728834	0.0920	0.1059	0.80	4	5	exonic	exonic	exonic	SDR42E1	SDR42E1	ENSG00000184860	stopgain	stopgain	unknown	SDR42E1:NM_145168:exon3:c.C88T:p.Q30X,	SDR42E1:uc002fgu.3:exon3:c.C88T:p.Q30X,	UNKNOWN	Het;G>A	917;55|37	Het;G>A	981;41|47	Hom;G>A	2360;0|79
N	N	-	16	84778685	84778685	A	G	snp	nonsynonymous SNV	A598G	M200V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	USP10	Usp10	ENSG00000103194	ubiquitin specific peptidase 10	chr16:84733584-84813528	Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013]	Tobacco Use Disorder; height; Luteinizing Hormone	Homozygous inactivation of this gene leads to alterations in arsenite-induced stress granule formation, reactive oxygen species (ROS) production, and ROS-dependent apoptosis in mouse embryonic fibroblasts.	Ub-specific processing proteases	GO:0006281;DNA repair;IEA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006914;autophagy;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010506;regulation of autophagy;IDA|GO:0016579;protein deubiquitination;TAS|GO:0019985;translesion synthesis;TAS|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071347;cellular response to interleukin-1;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA	GO:0002039;p53 binding;IPI|GO:0003723;RNA binding;IDA|GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0044325;ion channel binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/USP10	https://www.uniprot.org/uniprot/Q14694		https://www.ncbi.nlm.nih.gov/omim/?term=609818	http://www.informatics.jax.org/searchtool/Search.do?query=USP10&submit=Quick%0D%2982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP10	rs1862792	0.203075	0.2259	0.2304	0.08	1	13	exonic	exonic	exonic	USP10	USP10	ENSG00000103194	nonsynonymous SNV	nonsynonymous SNV	unknown	USP10:NM_001272075:exon5:c.A610G:p.M204V,USP10:NM_005153:exon4:c.A598G:p.M200V,	USP10:uc002fii.3:exon4:c.A598G:p.M200V,USP10:uc010voe.2:exon5:c.A610G:p.M204V,	UNKNOWN	Het;A>G	2248;99|99	Ref		Hom;A>G	5518;0|202
N	N	-	16	84879464	84879464	A	G	snp	nonsynonymous SNV	A313G	S105G	polar,hydrophilic,neutral	aliphatic,neutral	CRISPLD2	Crispld2	ENSG00000103196	cysteine rich secretory protein LCCL domain containing 2	chr16:84853590-84954374		Body Height; height; cleft lip with cleft palate cleft lip without cleft palate; Type 2 Diabetes| edema | rosiglitazone; oral clefts; Cleft Lip|Cleft Palate	Homozygous mutant mice show various immunological abnormalities, enhanced glucose tolerance and decreased bone-related measurements.	Neutrophil degranulation	GO:0030198;extracellular matrix organization;IEA|GO:0030324;lung development;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0060325;face morphogenesis;IMP	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0030133;transport vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CRISPLD2	https://www.uniprot.org/uniprot/Q9H0B8		https://www.ncbi.nlm.nih.gov/omim/?term=612434	http://www.informatics.jax.org/searchtool/Search.do?query=CRISPLD2&submit=Quick%0D%2983ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRISPLD2	rs12051468	0.373403	0.4181	0.3981	0.08	1	13	exonic	exonic	exonic	CRISPLD2	CRISPLD2	ENSG00000103196	nonsynonymous SNV	nonsynonymous SNV	unknown	CRISPLD2:NM_031476:exon3:c.A313G:p.S105G,	CRISPLD2:uc010voh.1:exon3:c.A313G:p.S105G,CRISPLD2:uc002fin.4:exon3:c.A313G:p.S105G,CRISPLD2:uc002fim.2:exon3:c.A313G:p.S105G,CRISPLD2:uc002fil.2:exon3:c.A313G:p.S105G,	UNKNOWN	Het;A>G	1727;61|74	Het;A>G	1352;64|66	Hom;A>G	3360;0|127
N	N	-	16	87350773	87350773	C	A	snp	nonsynonymous SNV	G76T	A26S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	C16orf95	1700018B08Rik	ENSG00000260456	chromosome 16 open reading frame 95	chr16:87117168-87351022			 					http://www.genecards.org/index.php?path=/Search/keyword/C16orf95				http://www.informatics.jax.org/searchtool/Search.do?query=C16orf95&submit=Quick%0D%20376ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C16orf95	rs3748393	0.419529	0	0.4843	0.10	1	10	exonic	exonic	exonic	C16orf95	C16orf95	ENSG00000260456	nonsynonymous SNV	nonsynonymous SNV	unknown	C16orf95:NM_001195125:exon1:c.G76T:p.A26S,C16orf95:NM_001195124:exon1:c.G76T:p.A26S,	C16orf95:uc021tmh.1:exon1:c.G76T:p.A26S,C16orf95:uc002fju.3:exon1:c.G76T:p.A26S,	UNKNOWN	Het;C>A	2151;64|94	Het;C>A	1360;64|66	Hom;C>A	3830;0|137
N	N	-	16	87788864	87788864	G	A	snp	nonsynonymous SNV	C305T	T102I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	KLHDC4	Klhdc4	ENSG00000104731	kelch domain containing 4	chr16:87730091-87799598		C-Reactive Protein	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KLHDC4	https://www.uniprot.org/uniprot/Q8TBB5			http://www.informatics.jax.org/searchtool/Search.do?query=KLHDC4&submit=Quick%0D%3156ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHDC4	rs2303771	0.407149	0.3609	0.3918	0.08	1	13	exonic	exonic	exonic	KLHDC4	KLHDC4	ENSG00000104731	nonsynonymous SNV	nonsynonymous SNV	unknown	KLHDC4:NM_001184856:exon4:c.C305T:p.T102I,KLHDC4:NM_001184854:exon2:c.C134T:p.T45I,KLHDC4:NM_017566:exon4:c.C305T:p.T102I,	KLHDC4:uc002fki.3:exon4:c.C305T:p.T102I,KLHDC4:uc002fkl.3:exon2:c.C134T:p.T45I,KLHDC4:uc002fkj.3:exon4:c.C305T:p.T102I,	UNKNOWN	Het;G>A	909;44|41	Het;G>A	390;20|22	Hom;G>A	1254;0|49
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	88066717	88066717	C	T	snp	nonsynonymous SNV	C1042T	P348S	hydrophobic,neutral	polar,hydrophilic,neutral	BANP	Banp	ENSG00000172530	BTG3 associated nuclear protein	chr16:87982850-88110924	This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]	Fibrinogen; Menopause; Stroke; Cornea; Tobacco Use Disorder	 	Regulation of TP53 Activity through Association with Co-factors	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0034504;protein localization to nucleus;IEA|GO:0042177;negative regulation of protein catabolic process;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016604;nuclear body;IDA	GO:0002039;p53 binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BANP			https://www.ncbi.nlm.nih.gov/omim/?term=611564	http://www.informatics.jax.org/searchtool/Search.do?query=BANP&submit=Quick%0D%13183ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BANP	rs74992447	0.184305	0.1221	0.1487	0.17	2	12	exonic	exonic	exonic	BANP	BANP	ENSG00000172530	nonsynonymous SNV	nonsynonymous SNV	unknown	BANP:NM_017869:exon8:c.C949T:p.P317S,BANP:NM_001173539:exon9:c.C1066T:p.P356S,BANP:NM_001173541:exon8:c.C949T:p.P317S,BANP:NM_001173540:exon8:c.C967T:p.P323S,BANP:NM_001173542:exon9:c.C1066T:p.P356S,BANP:NM_001173543:exon9:c.C1042T:p.P348S,BANP:NM_079837:exon8:c.C949T:p.P317S,	BANP:uc002fkr.3:exon9:c.C1042T:p.P348S,BANP:uc002fkq.3:exon8:c.C949T:p.P317S,BANP:uc021tml.1:exon9:c.C1066T:p.P356S,BANP:uc002fko.1:exon8:c.C757T:p.P253S,BANP:uc010vow.2:exon9:c.C1066T:p.P356S,BANP:uc002fkp.3:exon8:c.C949T:p.P317S,BANP:uc002fks.4:exon8:c.C949T:p.P317S,BANP:uc010vov.2:exon8:c.C967T:p.P323S,	UNKNOWN	Het;C>T	2259;121|103	Ref		Hom;C>T	4616;0|169
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	88778615	88778615	G	A	snp	nonsynonymous SNV	G490A	V164M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	CTU2	Ctu2	ENSG00000174177	cytosolic thiouridylase subunit 2	chr16:88772871-88781794	This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]		 	tRNA modification in the nucleus and cytosol	GO:0002098;tRNA wobble uridine modification;IEA|GO:0002143;tRNA wobble position uridine thiolation;IBA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0032447;protein urmylation;IEA|GO:0034227;tRNA thio-modification;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA	GO:0000049;tRNA binding;IEA|GO:0005515;protein binding;IPI|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016783;sulfurtransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CTU2		https://hpo.jax.org/app/browse/search?q=CTU2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617057	http://www.informatics.jax.org/searchtool/Search.do?query=CTU2&submit=Quick%0D%13486ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CTU2	rs7205989	0.576278	0	0.6018	0.14	1	7	intronic	exonic	exonic	CTU2	CTU2	ENSG00000174177	Na	nonsynonymous SNV	unknown	Na	CTU2:uc010chz.3:exon6:c.G490A:p.V164M,	UNKNOWN	Het;G>A	1801;80|79	Ref		Hom;G>A	3554;1|129
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	88800060	88800060	C	T	snp	nonsynonymous SNV	G2423A	R808Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	PIEZO1	Piezo1	ENSG00000103335	piezo type mechanosensitive ion channel component 1	chr16:88781751-88851619	The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]	Arteries	Most mice homozygous for a gene trapped allele die at midgestation, exhibiting embryonic growth retardation, pericardial effusion, and vascular remodeling defects in the yolk sac and the embryo proper.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0033625;positive regulation of integrin activation;IMP|GO:0033634;positive regulation of cell-cell adhesion mediated by integrin;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0042995;cell projection;IEA	GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIEZO1	https://www.uniprot.org/uniprot/Q92508	https://hpo.jax.org/app/browse/search?q=PIEZO1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611184	http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO1&submit=Quick%0D%3008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO1	rs202103485	0.000798722	0	0.0026	0.62	8	13	exonic	exonic	exonic	PIEZO1	PIEZO1	ENSG00000103335	nonsynonymous SNV	nonsynonymous SNV	unknown	PIEZO1:NM_001142864:exon18:c.G2423A:p.R808Q,	PIEZO1:uc010vpb.2:exon18:c.G2423A:p.R808Q,PIEZO1:uc010cib.3:exon7:c.G1034A:p.R345Q,	UNKNOWN	Het;C>T	2249;90|100	Ref		Hom;C>T	4310;1|157
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	88800139	88800139	C	T	snp	nonsynonymous SNV	G2344A	G782S	aliphatic,neutral	polar,hydrophilic,neutral	PIEZO1	Piezo1	ENSG00000103335	piezo type mechanosensitive ion channel component 1	chr16:88781751-88851619	The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]	Arteries	Most mice homozygous for a gene trapped allele die at midgestation, exhibiting embryonic growth retardation, pericardial effusion, and vascular remodeling defects in the yolk sac and the embryo proper.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0033625;positive regulation of integrin activation;IMP|GO:0033634;positive regulation of cell-cell adhesion mediated by integrin;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0042995;cell projection;IEA	GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIEZO1	https://www.uniprot.org/uniprot/Q92508	https://hpo.jax.org/app/browse/search?q=PIEZO1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611184	http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO1&submit=Quick%0D%3008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO1	rs200970763	0.000798722	0	0.0033	0.62	8	13	exonic	exonic	exonic	PIEZO1	PIEZO1	ENSG00000103335	nonsynonymous SNV	nonsynonymous SNV	unknown	PIEZO1:NM_001142864:exon18:c.G2344A:p.G782S,	PIEZO1:uc010vpb.2:exon18:c.G2344A:p.G782S,PIEZO1:uc010cib.3:exon7:c.G955A:p.G319S,	UNKNOWN	Het;C>T	1388;56|61	Ref		Hom;C>T	2974;0|107
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	88803124	88803124	T	C	snp	nonsynonymous SNV	A1219G	R407G	polar,hydrophilic,charged(+)	aliphatic,neutral	PIEZO1	Piezo1	ENSG00000103335	piezo type mechanosensitive ion channel component 1	chr16:88781751-88851619	The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]	Arteries	Most mice homozygous for a gene trapped allele die at midgestation, exhibiting embryonic growth retardation, pericardial effusion, and vascular remodeling defects in the yolk sac and the embryo proper.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0033625;positive regulation of integrin activation;IMP|GO:0033634;positive regulation of cell-cell adhesion mediated by integrin;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0042995;cell projection;IEA	GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIEZO1	https://www.uniprot.org/uniprot/Q92508	https://hpo.jax.org/app/browse/search?q=PIEZO1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611184	http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO1&submit=Quick%0D%3008ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO1	rs13333358	0.430312	0.3507	0.3243	0.17	2	12	exonic	exonic	exonic	PIEZO1	PIEZO1	ENSG00000103335	nonsynonymous SNV	nonsynonymous SNV	unknown	PIEZO1:NM_001142864:exon11:c.A1219G:p.R407G,	PIEZO1:uc010vpb.2:exon11:c.A1219G:p.R407G,	UNKNOWN	Het;T>C	509;17|26	Het;T>C	354;14|17	Hom;T>C	826;0|30
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	88872229	88872229	A	G	snp	nonsynonymous SNV	A784G	T262A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	CDT1	Cdt1	ENSG00000167513	chromatin licensing and DNA replication factor 1	chr16:88869621-88875666	The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011]	breast cancer	Mice homozygous for a small in-frame deletion in exon 2 are viable and fertile.	Removal of licensing factors from origins	GO:0000076;DNA replication checkpoint;IDA|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IMP|GO:0006260;DNA replication;IEA|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0030174;regulation of DNA-dependent DNA replication initiation;IDA|GO:0031334;positive regulation of protein complex assembly;IMP|GO:0033044;regulation of chromosome organization;IMP|GO:0033262;regulation of nuclear cell cycle DNA replication;IEA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0051301;cell division;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051383;kinetochore organization;IMP|GO:0071163;DNA replication preinitiation complex assembly;IDA|GO:0072708;response to sorbitol;IDA|GO:1902426;deactivation of mitotic spindle assembly checkpoint;IMP|GO:1902595;regulation of DNA replication origin binding;IDA|GO:1905341;negative regulation of protein localization to kinetochore;IMP|GO:1905342;positive regulation of protein localization to kinetochore;IMP|GO:2000105;positive regulation of DNA-dependent DNA replication;IDA|GO:2001178;positive regulation of mediator complex assembly;IDA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDT1		https://hpo.jax.org/app/browse/search?q=CDT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605525	http://www.informatics.jax.org/searchtool/Search.do?query=CDT1&submit=Quick%0D%12024ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDT1	rs480727	0.571286	0.4955	0.4442	0.08	1	13	exonic	exonic	exonic	CDT1	CDT1	ENSG00000167513	nonsynonymous SNV	nonsynonymous SNV	unknown	CDT1:NM_030928:exon5:c.A784G:p.T262A,	CDT1:uc002flu.3:exon5:c.A784G:p.T262A,	UNKNOWN	Het;A>G	1790;98|77	Het;A>G	1740;65|80	Hom;A>G	4344;0|146
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	88874555	88874555	G	C	snp	nonsynonymous SNV	G1510C	E504Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	CDT1	Cdt1	ENSG00000167513	chromatin licensing and DNA replication factor 1	chr16:88869621-88875666	The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011]	breast cancer	Mice homozygous for a small in-frame deletion in exon 2 are viable and fertile.	Removal of licensing factors from origins	GO:0000076;DNA replication checkpoint;IDA|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IMP|GO:0006260;DNA replication;IEA|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0030174;regulation of DNA-dependent DNA replication initiation;IDA|GO:0031334;positive regulation of protein complex assembly;IMP|GO:0033044;regulation of chromosome organization;IMP|GO:0033262;regulation of nuclear cell cycle DNA replication;IEA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0051301;cell division;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051383;kinetochore organization;IMP|GO:0071163;DNA replication preinitiation complex assembly;IDA|GO:0072708;response to sorbitol;IDA|GO:1902426;deactivation of mitotic spindle assembly checkpoint;IMP|GO:1902595;regulation of DNA replication origin binding;IDA|GO:1905341;negative regulation of protein localization to kinetochore;IMP|GO:1905342;positive regulation of protein localization to kinetochore;IMP|GO:2000105;positive regulation of DNA-dependent DNA replication;IDA|GO:2001178;positive regulation of mediator complex assembly;IDA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA	GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CDT1		https://hpo.jax.org/app/browse/search?q=CDT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605525	http://www.informatics.jax.org/searchtool/Search.do?query=CDT1&submit=Quick%0D%12024ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDT1	rs548414653	0	0	4.521e-05	0.38	5	13	exonic	exonic	exonic	CDT1	CDT1	ENSG00000167513	nonsynonymous SNV	nonsynonymous SNV	unknown	CDT1:NM_030928:exon10:c.G1510C:p.E504Q,	CDT1:uc002flu.3:exon10:c.G1510C:p.E504Q,	UNKNOWN	Het;G>C	2556;110|107	Ref		Hom;G>C	4710;4|171
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	89017334	89017334	C	T	snp	nonsynonymous SNV	C808T	R270W	polar,hydrophilic,charged(+)	aromatic,hydrophobic,neutral	LOC100129697																		rs28617399	0	0	0.4271	1	0	0	exonic	intronic	exonic	LOC100129697	CBFA2T3	ENSG00000205018	nonsynonymous SNV	Na	unknown	LOC100129697:NM_001290330:exon2:c.C808T:p.R270W,	Na	UNKNOWN	Het;C>T	232;3|9	Ref		Hom;C>T	189;0|8
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	89291210	89291210	G	GGTGA	indel	frameshift substitution	118_118delinsGGTGA	 	 	 	ZNF778	Zfp26	ENSG00000170100	zinc finger protein 778	chr16:89284118-89295363	The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011]	Blood Pressure Determination	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF778				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778	rs10625512	0.750998	0	0.8138	1	0	0	exonic	exonic	exonic	ZNF778	ZNF778	ENSG00000170100	frameshift substitution	frameshift substitution	unknown	ZNF778:NM_001201407:exon5:c.328_328delinsGGTGA,	ZNF778:uc002fmw.2:exon3:c.118_118delinsGGTGA,ZNF778:uc021tms.1:exon5:c.328_328delinsGGTGA,	UNKNOWN	Het;+GTGA	672;23|20	Het;+GTGA	666;10|17	Hom;+GTGA	1818;0|42
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	89293271	89293271	A	C	snp	nonsynonymous SNV	A491C	K164T	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	ZNF778	Zfp26	ENSG00000170100	zinc finger protein 778	chr16:89284118-89295363	The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011]	Blood Pressure Determination	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF778				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778	rs28417933	0.59405	0.7267	0.7686	0.17	2	12	exonic	exonic	exonic	ZNF778	ZNF778	ENSG00000170100	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF778:NM_001201407:exon7:c.A575C:p.K192T,ZNF778:NM_182531:exon6:c.A491C:p.K164T,	ZNF778:uc002fmv.3:exon6:c.A491C:p.K164T,ZNF778:uc002fmw.2:exon5:c.A365C:p.K122T,ZNF778:uc021tms.1:exon7:c.A575C:p.K192T,	UNKNOWN	Het;A>C	2871;132|119	Het;A>C	3278;116|135	Hom;A>C	6480;0|232
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	89294381	89294381	T	C	snp	nonsynonymous SNV	T1601C	I534T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ZNF778	Zfp26	ENSG00000170100	zinc finger protein 778	chr16:89284118-89295363	The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011]	Blood Pressure Determination	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF778				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778	rs28415940	0.701078	0.7822	0.8086	0.08	1	12	exonic	exonic	exonic	ZNF778	ZNF778	ENSG00000170100	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF778:NM_001201407:exon7:c.T1685C:p.I562T,ZNF778:NM_182531:exon6:c.T1601C:p.I534T,	ZNF778:uc002fmv.3:exon6:c.T1601C:p.I534T,ZNF778:uc002fmw.2:exon5:c.T1475C:p.I492T,ZNF778:uc010vpg.2:exon6:c.T890C:p.I297T,ZNF778:uc021tms.1:exon7:c.T1685C:p.I562T,	UNKNOWN	Het;T>C	1592;60|65	Het;T>C	1081;62|50	Hom;T>C	4188;0|156
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	89294439	89294439	G	T	snp	nonsynonymous SNV	G1659T	Q553H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	ZNF778	Zfp26	ENSG00000170100	zinc finger protein 778	chr16:89284118-89295363	The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011]	Blood Pressure Determination	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF778				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778	rs9921361	0.698083	0.7807	0.8071	0.17	2	12	exonic	exonic	exonic	ZNF778	ZNF778	ENSG00000170100	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF778:NM_001201407:exon7:c.G1743T:p.Q581H,ZNF778:NM_182531:exon6:c.G1659T:p.Q553H,	ZNF778:uc002fmv.3:exon6:c.G1659T:p.Q553H,ZNF778:uc002fmw.2:exon5:c.G1533T:p.Q511H,ZNF778:uc010vpg.2:exon6:c.G948T:p.Q316H,ZNF778:uc021tms.1:exon7:c.G1743T:p.Q581H,	UNKNOWN	Het;G>T	1016;37|43	Het;G>T	774;37|35	Hom;G>T	2342;0|85
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	89777123	89777123	C	T	snp	nonsynonymous SNV	G1129A	D377N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	VPS9D1	Vps9d1	ENSG00000075399	VPS9 domain containing 1	chr16:89773542-89787394			 		GO:0015986;ATP synthesis coupled proton transport;TAS|GO:0043547;positive regulation of GTPase activity;IEA		GO:0005096;GTPase activator activity;IEA|GO:0005215;transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/VPS9D1	https://www.uniprot.org/uniprot/Q9Y2B5			http://www.informatics.jax.org/searchtool/Search.do?query=VPS9D1&submit=Quick%0D%1544ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS9D1	rs148694296	0.00638978	0.0183	0.0256	0.75	9	12	exonic	exonic	exonic	VPS9D1	VPS9D1	ENSG00000075399	nonsynonymous SNV	nonsynonymous SNV	unknown	VPS9D1:NM_004913:exon10:c.G1129A:p.D377N,	VPS9D1:uc002fom.1:exon10:c.G1129A:p.D377N,VPS9D1:uc002fol.1:exon9:c.G919A:p.D307N,	UNKNOWN	Het;C>T	2639;113|116	Ref		Hom;C>T	5388;2|208
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	89805914	89805914	T	C	snp	nonsynonymous SNV	A3982G	T1328A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	FANCA	Fanca	ENSG00000187741	Fanconi anemia complementation group A	chr16:89803957-89883065	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]	Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer 	Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility.	Fanconi Anemia Pathway	GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCA		https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607139	http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA	rs9282681	0.0722843	0.0513	0.0538	0.08	1	13	exonic	exonic	exonic	FANCA	FANCA	ENSG00000187741	nonsynonymous SNV	nonsynonymous SNV	unknown	FANCA:NM_000135:exon40:c.A3982G:p.T1328A,FANCA:NM_001286167:exon40:c.A3982G:p.T1328A,	FANCA:uc002fou.1:exon40:c.A3982G:p.T1328A,FANCA:uc010vpn.1:exon40:c.A3982G:p.T1328A,	UNKNOWN	Het;T>C	2321;101|99	Ref		Hom;T>C	4899;2|177
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	89806343	89806343	C	A	snp	nonsynonymous SNV	G1251T	L417F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	FANCA	Fanca	ENSG00000187741	Fanconi anemia complementation group A	chr16:89803957-89883065	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]	Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer 	Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility.	Fanconi Anemia Pathway	GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCA		https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607139	http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA	rs11647746	0.141174	0	0.1000	1	0	0	UTR3	exonic	UTR3	ZNF276(NM_152287:c.*1689C>A,NM_001113525:c.*1689C>A)	FANCA	ENSG00000158805(ENST00000289816:c.*1689C>A)	Na	nonsynonymous SNV	Na	Na	FANCA:uc010vpo.2:exon11:c.G1251T:p.L417F,	Na	Het;C>A	1541;90|69	Ref		Hom;C>A	4742;3|180
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	89815152	89815152	G	A	snp	nonsynonymous SNV	C521T	S174F	polar,hydrophilic,neutral	aromatic,hydrophobic,neutral	FANCA	Fanca	ENSG00000187741	Fanconi anemia complementation group A	chr16:89803957-89883065	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]	Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer 	Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility.	Fanconi Anemia Pathway	GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCA		https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607139	http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA	rs17233497	0.0233626	0.0592	0.0510	0.54	7	13	exonic	exonic	exonic	FANCA	FANCA	ENSG00000187741	nonsynonymous SNV	nonsynonymous SNV	unknown	FANCA:NM_000135:exon33:c.C3263T:p.S1088F,FANCA:NM_001286167:exon33:c.C3263T:p.S1088F,	FANCA:uc010vpo.2:exon5:c.C521T:p.S174F,FANCA:uc002fou.1:exon33:c.C3263T:p.S1088F,FANCA:uc010vpn.1:exon33:c.C3263T:p.S1088F,	UNKNOWN	Het;G>A	1782;78|77	Ref		Hom;G>A	3616;0|128
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	89839766	89839766	G	C	snp	nonsynonymous SNV	C1927G	P643A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	FANCA	Fanca	ENSG00000187741	Fanconi anemia complementation group A	chr16:89803957-89883065	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]	Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer 	Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility.	Fanconi Anemia Pathway	GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCA		https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607139	http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA	rs17232910	0.0740815	0.0477	0.0522	0.15	2	13	exonic	exonic	exonic	FANCA	FANCA	ENSG00000187741	nonsynonymous SNV	nonsynonymous SNV	unknown	FANCA:NM_000135:exon22:c.C1927G:p.P643A,FANCA:NM_001286167:exon22:c.C1927G:p.P643A,	FANCA:uc002fou.1:exon22:c.C1927G:p.P643A,FANCA:uc010vpn.1:exon22:c.C1927G:p.P643A,	UNKNOWN	Het;G>C	1064;63|49	Ref		Hom;G>C	3260;2|122
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	89857935	89857935	G	A	snp	nonsynonymous SNV	C1235T	A412V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FANCA	Fanca	ENSG00000187741	Fanconi anemia complementation group A	chr16:89803957-89883065	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]	Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer 	Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility.	Fanconi Anemia Pathway	GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FANCA		https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607139	http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA	rs11646374	0.0704872	0.0596	0.0651	0.54	7	13	exonic	exonic	exonic	FANCA	FANCA	ENSG00000187741	nonsynonymous SNV	nonsynonymous SNV	unknown	FANCA:NM_000135:exon14:c.C1235T:p.A412V,FANCA:NM_001286167:exon14:c.C1235T:p.A412V,	FANCA:uc002fou.1:exon14:c.C1235T:p.A412V,FANCA:uc010vpn.1:exon14:c.C1235T:p.A412V,	UNKNOWN	Het;G>A	1177;49|54	Ref		Hom;G>A	2612;0|97
16_129.974_134.474	Chr16:87933002-90108832	0.174	16	89985940	89985940	G	A	snp	nonsynonymous SNV	G274A	V92M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	MC1R	Mc1r	ENSG00000258839	melanocortin 1 receptor	chr16:89978527-89987385	This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008]	vitiligo; multiple sclerosis; Carcinoma, Basal Cell; tanning; radiation, UV, sensitivity to; pigmentation; null; breast cancer melanoma; freckles; prostate cancer; Hair Color; melanoma|Skin Neoplasms; red vs non-red hair color; Brill-Symmers disease|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse|Lymphoma, Large-Cell, Diffuse|Neoplasms, Radiation-Induced|Skin Neoplasms; Melanosis; Adenocarcinoma, Follicular|Carcinoma, Papillary|Melanoma|Thyroid Neoplasms; human pigmentation; Suntan; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; melanoma|Nevus|Skin Neoplasms|Sunburn; Heart Failure; skin cancer, non-melanoma; Vitiligo; melanoma; freckles and solar lentigines; Black vs red hair color; Skin Neoplasms; melanoma, cutaneous; Albinism, Oculocutaneous; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Ocular melanoma; Photosensitivity Disorders; hair color; skin cancer, nonmelanoma; melanoma skin cancer, non-melanoma; Parkinson's disease ; Carcinoma, Basal Cell|Melanoma|Skin Neoplasms; Melanoma, Amelanotic|Skin Neoplasms; ephelides; solar lentigines; cutaneous melanoma which is largely independent of skin type and hair color; oculocutaneous albinism type 2; Dengue Hemorrhagic Fever; obesity; tanning phenotype; Epstein-Barr Virus Infections|Multiple Sclerosis; Blond vs brown hair color; vulvar vestibulitis syndrome; skin sensitivity to sun; skin cancer; squamous cell carcinoma; carcinoma, basal cell; Melanoma|Skin Neoplasms; Melanoma|Neoplasms, Multiple Primary|Nevus|Skin Neoplasms; Severe Photoaging of Facial Skin; Melanoma; Erythema|Psoriasis|Skin Neoplasms; skin color; melanoma; skin cancer, non-melanoma; Lymphoma, Non-Hodgkin; Severe Acute Radiotherapy Side Effects	Mutant alleles at this locus extend or restrict the amount of black pigment (eumelanin) in hair with the opposite effect on yellow pigment (phaeomelanin). Some variants affect pain sensitivity.	G alpha (s) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007275;multicellular organism development;TAS|GO:0009650;UV protection;TAS|GO:0010739;positive regulation of protein kinase A signaling;ISS|GO:0019233;sensory perception of pain;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IMP|GO:0035556;intracellular signal transduction;ISS|GO:0042438;melanin biosynthetic process;IEA|GO:0043473;pigmentation;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0051897;positive regulation of protein kinase B signaling;ISS|GO:0070914;UV-damage excision repair;IDA|GO:0090037;positive regulation of protein kinase C signaling;ISS	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004977;melanocortin receptor activity;IEA|GO:0004980;melanocyte-stimulating hormone receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008528;G-protein coupled peptide receptor activity;TAS|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MC1R		https://hpo.jax.org/app/browse/search?q=MC1R&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=155555	http://www.informatics.jax.org/searchtool/Search.do?query=MC1R&submit=Quick%0D%20304ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MC1R	rs2228479	0.0796725	0.0633	0.0764	0.17	2	12	exonic	exonic	exonic	MC1R	MC1R,TUBB3	ENSG00000198211,ENSG00000258839	nonsynonymous SNV	nonsynonymous SNV	unknown	MC1R:NM_002386:exon1:c.G274A:p.V92M,	MC1R:uc002fpe.4:exon1:c.G274A:p.V92M,TUBB3:uc002fpf.2:exon1:c.G274A:p.V92M,	UNKNOWN	Het;G>A	2403;141|111	Ref		Hom;G>A	5708;0|210
N	N	-	16	90141355	90141355	A	C	snp	nonsynonymous SNV	T270G	D90E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	PRDM7	Prdm9	ENSG00000126856	PR/SET domain 7	chr16:90122974-90158480	This gene encodes a member of a family of proteins that may have roles in transcription and other nuclear processes. The encoded protein contains a KRAB (Kruppel-associated box) domain -A box and a SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain and may function as a histone methyltransferase. [provided by RefSeq, Aug 2013]	HIV Infections|[X]Human immunodeficiency virus disease; Heart Failure	Mice homozygous for a knock-out allele show decreased oocyte number, azoospermia, and sterility in both sexes due to severe impairment of the double-stranded break repair pathway, deficient pairing of homologous chromosomes, and impaired sex body formation.	Generic Transcription Pathway	GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA	GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRDM7	https://www.uniprot.org/uniprot/Q9NQW5		https://www.ncbi.nlm.nih.gov/omim/?term=609759	http://www.informatics.jax.org/searchtool/Search.do?query=PRDM7&submit=Quick%0D%5982ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM7	rs12925933	0.390575	0.5421	0.5567	0.33	4	12	exonic	exonic	exonic	PRDM7	PRDM7	ENSG00000126856	nonsynonymous SNV	nonsynonymous SNV	unknown	PRDM7:NM_001098173:exon3:c.T270G:p.D90E,	PRDM7:uc010cje.3:exon3:c.T270G:p.D90E,PRDM7:uc010cjf.3:exon2:c.T51G:p.D17E,	UNKNOWN	Het;A>C	2674;139|123	Het;A>C	2447;152|116	Hom;A>C	7906;1|289
N	N	-	17	16256686	16256686	G	GCGGAGGCCC	indel	nonframeshift substitution	65_65delinsGGGCCTCCGC	 	 	 	CENPV	Cenpv	ENSG00000166582	centromere protein V	chr17:16245848-16256970			 		GO:0001667;ameboidal-type cell migration;IDA|GO:0007049;cell cycle;IEA|GO:0008152;metabolic process;IEA|GO:0031508;pericentric heterochromatin assembly;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0033044;regulation of chromosome organization;IMP|GO:0034508;centromere complex assembly;IMP|GO:0051301;cell division;IEA	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0051233;spindle midzone;IDA	GO:0003674;molecular_function;ND|GO:0016846;carbon-sulfur lyase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CENPV			https://www.ncbi.nlm.nih.gov/omim/?term=608139	http://www.informatics.jax.org/searchtool/Search.do?query=CENPV&submit=Quick%0D%11831ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPV	rs539910742	0.533746	0.2774	0.3125	1	0	0	exonic	exonic	exonic	CENPV	CENPV	ENSG00000166582	nonframeshift substitution	nonframeshift substitution	unknown	CENPV:NM_181716:exon1:c.65_65delinsGGGCCTCCGC,	CENPV:uc002gpw.3:exon1:c.65_65delinsGGGCCTCCGC,	UNKNOWN	Het;+CGGAGGCCC	275;1|8	Ref		Hom;+CGGAGGCCC	212;0|6
N	N	-	17	16735618	16735618	G	A	snp	nonsynonymous SNV	C88T	R30C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	KRT16P2																		rs645134	0.927716	0	0.9030	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	KRT16P2	KRT16P2	ENSG00000227300	Na	nonsynonymous SNV	Na	Na	KRT16P2:uc010vwr.1:exon1:c.C88T:p.R30C,	Na	Het;G>A	3771;86|159	Het;G>A	3977;73|163	Hom;G>A	6042;0|226
N	N	-	17	17046024	17046024	C	A	snp	nonsynonymous SNV	C980A	P327Q	hydrophobic,neutral	polar,hydrophilic,neutral	MPRIP	Mprip	ENSG00000133030	myosin phosphatase Rho interacting protein	chr17:16945859-17120993		Aorta	 	Signaling by BRAF and RAF fusions		GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MPRIP	https://www.uniprot.org/uniprot/Q6WCQ1		https://www.ncbi.nlm.nih.gov/omim/?term=612935	http://www.informatics.jax.org/searchtool/Search.do?query=MPRIP&submit=Quick%0D%6782ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MPRIP	rs3744137	0.444688	0.3963	0.5060	0.08	1	12	exonic	exonic	exonic	MPRIP	MPRIP	ENSG00000133030	nonsynonymous SNV	nonsynonymous SNV	unknown	MPRIP:NM_201274:exon8:c.C980A:p.P327Q,MPRIP:NM_015134:exon8:c.C980A:p.P327Q,	MPRIP:uc002gqu.2:exon8:c.C980A:p.P327Q,MPRIP:uc002gqv.2:exon8:c.C980A:p.P327Q,MPRIP:uc002gqw.2:exon3:c.C359A:p.P120Q,	UNKNOWN	Het;C>A	1376;80|62	Het;C>A	2131;72|91	Hom;C>A	4072;0|145
N	N	-	17	18647625	18647625	T	A	snp	nonsynonymous SNV	T68A	I23N	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	FBXW10	Fbxw10	ENSG00000171931	F-box and WD repeat domain containing 10	chr17:18647326-18682662	Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]		 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0043687;post-translational protein modification;TAS	GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/FBXW10			https://www.ncbi.nlm.nih.gov/omim/?term=611679	http://www.informatics.jax.org/searchtool/Search.do?query=FBXW10&submit=Quick%0D%13045ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXW10	rs11544711	0.467851	0.5944	0.5745	0.33	4	12	exonic	exonic	exonic	FBXW10	FBXW10	ENSG00000171931	nonsynonymous SNV	nonsynonymous SNV	unknown	FBXW10:NM_001267585:exon1:c.T68A:p.I23N,FBXW10:NM_001267586:exon1:c.T68A:p.I23N,	FBXW10:uc002guk.3:exon1:c.T68A:p.I23N,FBXW10:uc010cqh.2:exon1:c.T68A:p.I23N,FBXW10:uc002gul.3:exon1:c.T68A:p.I23N,	UNKNOWN	Het;T>A	1910;79|86	Het;T>A	1385;70|62	Hom;T>A	4369;0|158
N	N	-	17	18694277	18694277	G	A	snp	nonsynonymous SNV	G164A	G55E	aliphatic,neutral	polar,hydrophilic,charged(-)	TVP23B	Tvp23b	ENSG00000171928	trans-golgi network vesicle protein 23 homolog B	chr17:18684308-18710027		Pancreatic Neoplasms	 		GO:0009306;protein secretion;IBA|GO:0016192;vesicle-mediated transport;IBA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IBA		http://www.genecards.org/index.php?path=/Search/keyword/TVP23B				http://www.informatics.jax.org/searchtool/Search.do?query=TVP23B&submit=Quick%0D%13044ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TVP23B	rs61075345	0.843051	0.8163	0.8392	0.15	2	13	exonic	exonic	exonic	TVP23B	TVP23B	ENSG00000171928	nonsynonymous SNV	nonsynonymous SNV	unknown	TVP23B:NM_016078:exon3:c.G164A:p.G55E,	TVP23B:uc002gum.2:exon3:c.G164A:p.G55E,	UNKNOWN	Het;G>A	1914;124|89	Het;G>A	2223;129|104	Hom;G>A	6149;0|225
N	N	-	17	25970642	25970642	A	T	snp	nonsynonymous SNV	A536T	Q179L	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	LGALS9	Lgals9	ENSG00000168961	galectin 9	chr17:25956824-25976586	The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The protein encoded by this gene is an S-type lectin. It is overexpressed in Hodgkin's disease tissue and might participate in the interaction between the H&RS cells with their surrounding cells and might thus play a role in the pathogenesis of this disease and/or its associated immunodeficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]		Mice homozygous for a null allele exhibit increased susceptibility to collagen-induced arthritis, increased T-helper 1 cells and decreased regulatory T cells.	Interleukin-2 family signaling	GO:0002376;immune system process;IEA|GO:0002519;natural killer cell tolerance induction;IMP|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;IDA|GO:0007565;female pregnancy;IDA|GO:0010628;positive regulation of gene expression;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0032496;response to lipopolysaccharide;IMP|GO:0032682;negative regulation of chemokine production;IMP|GO:0032689;negative regulation of interferon-gamma production;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IMP|GO:0032753;positive regulation of interleukin-4 production;IDA|GO:0032834;positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response;IDA|GO:0038066;p38MAPK cascade;IDA|GO:0042346;positive regulation of NF-kappaB import into nucleus;IMP|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043305;negative regulation of mast cell degranulation;IMP|GO:0045953;negative regulation of natural killer cell mediated cytotoxicity;IDA|GO:0046007;negative regulation of activated T cell proliferation;IMP|GO:0046598;positive regulation of viral entry into host cell;IDA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0060135;maternal process involved in female pregnancy;IDA|GO:0070241;positive regulation of activated T cell autonomous cell death;IDA|GO:0070371;ERK1 and ERK2 cascade;IDA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0070555;response to interleukin-1;IDA|GO:0071346;cellular response to interferon-gamma;IDA|GO:0071636;positive regulation of transforming growth factor beta production;IDA|GO:0071639;positive regulation of monocyte chemotactic protein-1 production;IMP|GO:0098586;cellular response to virus;IMP|GO:1902715;positive regulation of interferon-gamma secretion;IDA|GO:1904469;positive regulation of tumor necrosis factor secretion;IDA|GO:2000484;positive regulation of interleukin-8 secretion;IMP|GO:2000510;positive regulation of dendritic cell chemotaxis;IMP|GO:2000562;negative regulation of CD4-positive, alpha-beta T cell proliferation;IDA|GO:2000563;positive regulation of CD4-positive, alpha-beta T cell proliferation;IDA|GO:2000667;positive regulation of interleukin-13 secretion;IDA|GO:2000670;positive regulation of dendritic cell apoptotic process;IDA|GO:2000778;positive regulation of interleukin-6 secretion;IMP|GO:2001181;positive regulation of interleukin-10 secretion;IDA|GO:2001184;positive regulation of interleukin-12 secretion;IMP|GO:2001190;positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell;IDA|GO:2001200;positive regulation of dendritic cell differentiation;IMP|GO:2001269;positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;IMP|GO:0005534;galactose binding;TAS|GO:0019899;enzyme binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:0048030;disaccharide binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/LGALS9			https://www.ncbi.nlm.nih.gov/omim/?term=601879	http://www.informatics.jax.org/searchtool/Search.do?query=LGALS9&submit=Quick%0D%12389ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LGALS9	rs361498	0.0617013	0.1491	0.1659	0.08	1	13	exonic	exonic	exonic	LGALS9	LGALS9	ENSG00000168961	nonsynonymous SNV	nonsynonymous SNV	unknown	LGALS9:NM_009587:exon5:c.A536T:p.Q179L,	LGALS9:uc002gzp.3:exon5:c.A536T:p.Q179L,LGALS9:uc010waa.2:exon5:c.A365T:p.Q122L,	UNKNOWN	Het;A>T	1885;110|88	Het;A>T	1710;120|90	Hom;A>T	5865;6|231
N	N	-	17	3119767	3119767	C	T	snp	nonsynonymous SNV	C853T	P285S	hydrophobic,neutral	polar,hydrophilic,neutral	OR1A1	Olfr43	ENSG00000172146	olfactory receptor family 1 subfamily A member 1	chr17:3118915-3119844	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR1A1				http://www.informatics.jax.org/searchtool/Search.do?query=OR1A1&submit=Quick%0D%13088ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1A1	rs769427	0.342252	0.4491	0.4211	0.77	10	13	exonic	exonic	exonic	OR1A1	OR1A1	ENSG00000172146	nonsynonymous SNV	nonsynonymous SNV	unknown	OR1A1:NM_014565:exon1:c.C853T:p.P285S,	OR1A1:uc010vrc.2:exon1:c.C853T:p.P285S,	UNKNOWN	Het;C>T	904;31|37	Het;C>T	1102;42|52	Hom;C>T	2442;2|92
N	N	-	17	32904586	32904586	C	T	snp	nonsynonymous SNV	G464A	R155K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	C17orf102																		rs887230	0.796526	0.8575	0.8248	1	0	0	exonic	exonic	exonic	C17orf102	C17orf102	ENSG00000197322	nonsynonymous SNV	nonsynonymous SNV	unknown	C17orf102:NM_207454:exon2:c.G464A:p.R155K,	C17orf102:uc002hie.1:exon2:c.G464A:p.R155K,	UNKNOWN	Het;C>T	1301;55|61	Het;C>T	751;63|39	Hom;C>T	2814;0|107
N	N	-	17	33881631	33881631	T	C	snp	nonsynonymous SNV	A1153G	K385E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	SLFN14	Slfn14	ENSG00000236320	schlafen family member 14	chr17:33875144-33885117	The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]	Platelet Count	 		GO:0006402;mRNA catabolic process;IDA|GO:0016075;rRNA catabolic process;IDA|GO:0036345;platelet maturation;IMP|GO:0071286;cellular response to magnesium ion;ISS|GO:0071287;cellular response to manganese ion;ISS|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA	GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004521;endoribonuclease activity;IDA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0043022;ribosome binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLFN14		https://hpo.jax.org/app/browse/search?q=SLFN14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614958	http://www.informatics.jax.org/searchtool/Search.do?query=SLFN14&submit=Quick%0D%19408ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLFN14	rs321612	0.627196	0.6301	0.5782	0.08	1	12	exonic	exonic	exonic	SLFN14	SLFN14	ENSG00000236320	nonsynonymous SNV	nonsynonymous SNV	unknown	SLFN14:NM_001129820:exon2:c.A1153G:p.K385E,	SLFN14:uc010ctu.1:exon2:c.A1153G:p.K385E,	UNKNOWN	Het;T>C	1657;91|80	Ref		Hom;T>C	3657;0|128
N	N	-	17	33881718	33881718	G	A	snp	nonsynonymous SNV	C1066T	P356S	hydrophobic,neutral	polar,hydrophilic,neutral	SLFN14	Slfn14	ENSG00000236320	schlafen family member 14	chr17:33875144-33885117	The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]	Platelet Count	 		GO:0006402;mRNA catabolic process;IDA|GO:0016075;rRNA catabolic process;IDA|GO:0036345;platelet maturation;IMP|GO:0071286;cellular response to magnesium ion;ISS|GO:0071287;cellular response to manganese ion;ISS|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA	GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004521;endoribonuclease activity;IDA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0043022;ribosome binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLFN14		https://hpo.jax.org/app/browse/search?q=SLFN14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614958	http://www.informatics.jax.org/searchtool/Search.do?query=SLFN14&submit=Quick%0D%19408ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLFN14	rs321613	0.627396	0.6297	0.5795	0.08	1	12	exonic	exonic	exonic	SLFN14	SLFN14	ENSG00000236320	nonsynonymous SNV	nonsynonymous SNV	unknown	SLFN14:NM_001129820:exon2:c.C1066T:p.P356S,	SLFN14:uc010ctu.1:exon2:c.C1066T:p.P356S,	UNKNOWN	Het;G>A	2324;90|66	Ref		Hom;G>A	5448;1|129
N	N	-	17	3446839	3446839	A	G	snp	nonsynonymous SNV	T395C	V132A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TRPV3	Trpv3	ENSG00000167723	transient receptor potential cation channel subfamily V member 3	chr17:3413796-3461289	This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]	Olmsted syndrome	Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities.	TRP channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0009266;response to temperature stimulus;IEA|GO:0009408;response to heat;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042636;negative regulation of hair cycle;IMP|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/TRPV3		https://hpo.jax.org/app/browse/search?q=TRPV3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607066	http://www.informatics.jax.org/searchtool/Search.do?query=TRPV3&submit=Quick%0D%12094ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV3	rs139870087	0.00539137	7.7e-05	0.0047	0.23	3	13	exonic	exonic	exonic	TRPV3	TRPV3	ENSG00000167723	nonsynonymous SNV	nonsynonymous SNV	unknown	TRPV3:NM_001258205:exon5:c.T395C:p.V132A,TRPV3:NM_145068:exon5:c.T395C:p.V132A,	TRPV3:uc002fvr.3:exon5:c.T395C:p.V132A,TRPV3:uc010vri.2:exon3:c.T260C:p.V87A,TRPV3:uc010vrj.2:exon6:c.T347C:p.V116A,TRPV3:uc010vrl.2:exon4:c.T347C:p.V116A,TRPV3:uc002fvu.3:exon5:c.T395C:p.V132A,TRPV3:uc002fvt.2:exon5:c.T395C:p.V132A,TRPV3:uc010vrh.2:exon4:c.T347C:p.V116A,	UNKNOWN	Het;A>G	1519;85|70	Het;A>G	1824;88|83	Hom;A>G	3388;0|117
N	N	-	17	39383012	39383012	C	T	snp	nonsynonymous SNV	C106T	P36S	hydrophobic,neutral	polar,hydrophilic,neutral	KRTAP9-2		ENSG00000263090	keratin associated protein 9-2	chr17:39382900-39383904	This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]			Keratinization	GO:0031424;keratinization;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA	GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRTAP9-2				http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP9-2&submit=Quick%0D%20541ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP9-2	rs9903833	0	0	0.5907	0.08	1	12	exonic	exonic	exonic	KRTAP9-2	KRTAP9-2	ENSG00000239886	nonsynonymous SNV	nonsynonymous SNV	unknown	KRTAP9-2:NM_031961:exon1:c.C106T:p.P36S,	KRTAP9-2:uc002hwf.3:exon1:c.C106T:p.P36S,	UNKNOWN	Het;C>T	72;1|3	Het;C>T	69;1|3	Hom;C>T	110;0|5
N	N	-	17	39535859	39535859	A	G	snp	nonsynonymous SNV	T839C	I280T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	KRT34	Krt34	ENSG00000262045	keratin 34	chr17:39533902-39538655	The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]		 			GO:0005882;intermediate filament;IEA	GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KRT34			https://www.ncbi.nlm.nih.gov/omim/?term=602763	http://www.informatics.jax.org/searchtool/Search.do?query=KRT34&submit=Quick%0D%20452ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT34	rs2239710	0.744609	0.7396	0.6983	0.18	2	11	exonic	exonic	exonic	KRT34	KRT34	ENSG00000131737	nonsynonymous SNV	nonsynonymous SNV	unknown	KRT34:NM_021013:exon4:c.T839C:p.I280T,	KRT34:uc002hwm.3:exon4:c.T839C:p.I280T,	UNKNOWN	Het;A>G	612;32|27	Het;A>G	607;19|25	Hom;A>G	1553;0|56
N	N	-	17	39659913	39659913	G	A	snp	nonsynonymous SNV	C239T	A80V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	KRT13	Krt13	ENSG00000171401	keratin 13	chr17:39657233-39661957	The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008]	WHITE SPONGE NEVUS 2	 	Formation of the cornified envelope	GO:0007010;cytoskeleton organization;IDA|GO:0009314;response to radiation;IEA|GO:0031424;keratinization;TAS|GO:0043587;tongue morphogenesis;IEA|GO:0070268;cornification;TAS|GO:0071300;cellular response to retinoic acid;IEA	GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KRT13		https://hpo.jax.org/app/browse/search?q=KRT13&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148065	http://www.informatics.jax.org/searchtool/Search.do?query=KRT13&submit=Quick%0D%12912ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT13	rs9891361	0.705272	0.6951	0.8509	0.69	9	13	exonic	exonic	exonic	KRT13	KRT13	ENSG00000171401	nonsynonymous SNV	nonsynonymous SNV	unknown	KRT13:NM_002274:exon2:c.C560T:p.A187V,KRT13:NM_153490:exon2:c.C560T:p.A187V,	KRT13:uc010wfr.2:exon3:c.C239T:p.A80V,KRT13:uc021txk.1:exon3:c.C239T:p.A80V,KRT13:uc002hwu.1:exon2:c.C560T:p.A187V,KRT13:uc002hwv.1:exon2:c.C560T:p.A187V,KRT13:uc010cxo.3:exon2:c.C560T:p.A187V,	UNKNOWN	Het;G>A	1319;32|59	Het;G>A	593;47|30	Hom;G>A	2385;0|85
N	N	-	17	39890876	39890876	T	C	snp	nonsynonymous SNV	A11G	K4R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	HAP1	Hap1	ENSG00000173805	huntingtin associated protein 1	chr17:39873994-39890896	Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	atherosclerosis, coronary lipoprotein; Huntington Disease; Chronic progressive chorea|Huntington Disease	Homozygous inactivation of this gene results in abnormal feeding and/or suckling behavior, absent gastric milk in neonates, slow postnatal weight gain, and postnatal death. Degeneration in hypothalamic regions that control feeding behavior has been observed.		GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006914;autophagy;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007420;brain development;NAS|GO:0008089;anterograde axonal transport;ISS|GO:0008090;retrograde axonal transport;ISS|GO:0008104;protein localization;IMP|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;ISS|GO:0021549;cerebellum development;IEA|GO:0021979;hypothalamus cell differentiation;IEA|GO:0022008;neurogenesis;IEA|GO:0030030;cell projection organization;IEA|GO:0031587;positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;ISS|GO:0032230;positive regulation of synaptic transmission, GABAergic;ISS|GO:0032901;positive regulation of neurotrophin production;ISS|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;ISS|GO:0047496;vesicle transport along microtubule;IEA|GO:0048011;neurotrophin TRK receptor signaling pathway;ISS|GO:0050769;positive regulation of neurogenesis;IEA|GO:1902430;negative regulation of beta-amyloid formation;ISS|GO:1902513;regulation of organelle transport along microtubule;ISS|GO:1902857;positive regulation of non-motile cilium assembly;ISS|GO:2000766;negative regulation of cytoplasmic translation;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005764;lysosome;IEA|GO:0005776;autophagosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005813;centrosome;IEA|GO:0005814;centriole;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;TAS|GO:0008021;synaptic vesicle;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016234;inclusion body;IDA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:1904115;axon cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0044325;ion channel binding;ISS|GO:0048403;brain-derived neurotrophic factor binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/HAP1			https://www.ncbi.nlm.nih.gov/omim/?term=600947	http://www.informatics.jax.org/searchtool/Search.do?query=HAP1&submit=Quick%0D%13426ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAP1	rs4796604	0.547125	0.3924	0.5886	0.08	1	12	exonic	exonic	exonic	HAP1	HAP1	ENSG00000173805	nonsynonymous SNV	nonsynonymous SNV	unknown	HAP1:NM_177977:exon1:c.A11G:p.K4R,HAP1:NM_001079871:exon1:c.A11G:p.K4R,HAP1:NM_001079870:exon1:c.A11G:p.K4R,	HAP1:uc002hxp.1:exon1:c.A11G:p.K4R,HAP1:uc002hxm.1:exon1:c.A11G:p.K4R,HAP1:uc002hxo.1:exon1:c.A11G:p.K4R,HAP1:uc002hxn.1:exon1:c.A11G:p.K4R,	UNKNOWN	Het;T>C	473;19|24	Het;T>C	686;15|31	Hom;T>C	1078;0|39
N	N	-	17	41994794	41994794	C	T	snp	nonsynonymous SNV	C116T	T39M	polar,hydrophilic,neutral	hydrophobic,neutral	FAM215A																		rs231458	0.588259	0	0.5235	0.60	3	5	ncRNA_exonic	exonic	exonic	FAM215A	FAM215A	ENSG00000267496	Na	nonsynonymous SNV	unknown	Na	FAM215A:uc010wiq.1:exon1:c.C116T:p.T39M,	UNKNOWN	Het;C>T	4162;162|183	Het;C>T	4129;184|194	Hom;C>T	9107;0|325
N	N	-	17	42453065	42453065	A	C	snp	nonsynonymous SNV	T1064G	I355S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ITGA2B	Itga2b	ENSG00000005961	integrin subunit alpha 2b	chr17:42449548-42466873	This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]	coronary artery disease; Graft Occlusion, Vascular|Kidney Failure, Chronic|Thrombosis; deletion-insertion and alternative splicing; retinal vascular occlusion; vaso-occlusive crisis; Alzheimer's disease ; brain hemorrhage; retinopathy, diabetic; Glanzmann thrombasthenia; Antiphospholipid Syndrome|Arteriosclerosis|Lupus Erythematosus, Systemic|Thrombosis; myocardial infarct; coronary artery stent thrombosis; myocardial infarct; lymphoproliferative disorders; restenosis; stroke; Apoplexy|Recurrence|Stroke; Coronary Disease|Coronary heart disease; thrombocytopenia; Brain Ischemia|Recurrence|Stroke; myocardial infarct; atherosclerosis, coronary; thrombus formation, arterial; Pre-Eclampsia; hematology indices; Buerger's disease; coronary artery disease; myocardial infarction; Thrombosis; myocardial infarction; stroke; Brain Ischemia|Stroke; lymphoproliferative disorders; blood transfusion complications; systemic lupus erythematosus; pregnancy loss, recurrent; fetal loss; cerebrovascular disease; sickle cell anemia; stroke, ischemic; nephropathy; blood transfusion complications; normal variation; acute coronary syndrome; atherosclerosis, coronary; ischemia; myocardial infarction; stroke; revascularization, urgent; intima-media thickness; myocardial injury; myocardial infarction; stroke, ischemic; Type 2 Diabetes| edema | rosiglitazone; coronary heart disease; null; Thrombocytopenia; myocardial infarction; Vascular Diseases; Coronary Disease; metabolism disorders; myocardial infarction; stroke, ischemic; diabetes, type 2	Homozygotes for targeted null mutations exhibit a bleeding disorder, lack platelet binding to fibrinogen, absence of fibrinogen in platelet alpha granules, and increased numbers of hematopoietic progenitors in yolk sac, fetal liver, and bone marrow.	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function	GO:0002576;platelet degranulation;TAS|GO:0002687;positive regulation of leukocyte migration;IEA|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0070527;platelet aggregation;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IEA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031092;platelet alpha granule membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0050840;extracellular matrix binding;IEA|GO:0070051;fibrinogen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITGA2B	https://www.uniprot.org/uniprot/P08514	https://hpo.jax.org/app/browse/search?q=ITGA2B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607759	http://www.informatics.jax.org/searchtool/Search.do?query=ITGA2B&submit=Quick%0D%379ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA2B	rs5911	0.400359	0.3796	0.4359	0.17	2	12	exonic	exonic	exonic	ITGA2B	ITGA2B	ENSG00000005961	nonsynonymous SNV	nonsynonymous SNV	unknown	ITGA2B:NM_000419:exon26:c.T2621G:p.I874S,	ITGA2B:uc002igu.1:exon14:c.T1064G:p.I355S,ITGA2B:uc002igt.1:exon26:c.T2621G:p.I874S,	UNKNOWN	Het;A>C	1620;69|69	Het;A>C	1201;61|56	Hom;A>C	3080;0|111
N	N	-	17	4356375	4356375	G	T	snp	nonsynonymous SNV	G607T	A203S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	SPNS3	Spns3	ENSG00000182557	sphingolipid transporter 3 (putative)	chr17:4336983-4391503		Tobacco Use Disorder; Eosinophils	 		GO:0003376;sphingosine-1-phosphate signaling pathway;IBA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0040011;locomotion;IBA|GO:0055085;transmembrane transport;IEA	GO:0005765;lysosomal membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IBA	GO:0046624;sphingolipid transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SPNS3			https://www.ncbi.nlm.nih.gov/omim/?term=611701	http://www.informatics.jax.org/searchtool/Search.do?query=SPNS3&submit=Quick%0D%14812ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPNS3	rs11655342	0.245008	0.2668	0.3508	0.08	1	13	exonic	exonic	exonic	SPNS3	SPNS3	ENSG00000182557	nonsynonymous SNV	nonsynonymous SNV	unknown	SPNS3:NM_182538:exon8:c.G988T:p.A330S,	SPNS3:uc002fxu.3:exon7:c.G607T:p.A203S,SPNS3:uc002fxt.3:exon8:c.G988T:p.A330S,	UNKNOWN	Het;G>T	1065;69|47	Het;G>T	1056;42|49	Hom;G>T	2983;2|107
N	N	-	17	46629593	46629593	G	T	snp	nonsynonymous SNV	C244A	P82T	hydrophobic,neutral	polar,hydrophilic,neutral	HOXB3	Hoxb3	ENSG00000120093	homeobox B3	chr17:46626232-46682274	This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML). [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele display partial neonatal lethality and mild and low penetrance defects in the formation of the anterior arch of the atlas and the IXth cranial nerve.	Activation of anterior HOX genes in hindbrain development during early embryogenesis	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEP|GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0021546;rhombomere development;IEA|GO:0021615;glossopharyngeal nerve morphogenesis;IEA|GO:0030878;thyroid gland development;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0051216;cartilage development;IEA|GO:0060216;definitive hemopoiesis;IEA|GO:0060324;face development;IEA	GO:0005634;nucleus;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HOXB3	https://www.uniprot.org/uniprot/P14651		https://www.ncbi.nlm.nih.gov/omim/?term=142966	http://www.informatics.jax.org/searchtool/Search.do?query=HOXB3&submit=Quick%0D%5165ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HOXB3	rs2229304	0.603435	0.6122	0.6686	0.33	4	12	exonic	exonic	exonic	HOXB3	HOXB3	ENSG00000120093	nonsynonymous SNV	nonsynonymous SNV	unknown	HOXB3:NM_002146:exon3:c.C244A:p.P82T,	HOXB3:uc002ino.3:exon3:c.C244A:p.P82T,HOXB3:uc010wlm.2:exon3:c.C25A:p.P9T,HOXB3:uc010dbf.3:exon4:c.C244A:p.P82T,HOXB3:uc010wll.2:exon4:c.C25A:p.P9T,HOXB3:uc010dbg.3:exon2:c.C244A:p.P82T,HOXB3:uc002inn.3:exon1:c.C244A:p.P82T,	UNKNOWN	Het;G>T	1678;29|64	Ref		Hom;G>T	3437;2|118
N	N	-	17	4837171	4837210	GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA	G	indel	nonframeshift substitution	1272_1311G	 	 	 	GP1BA	Gp1ba	ENSG00000185245	glycoprotein Ib platelet alpha subunit	chr17:4835592-4838325	Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]	cerebrovascular disease, ischemic; patent ductus arteriosus; Thromboembolism; atherosclerosis, generalized; coronary artery stent thrombosis; Coronary Artery Disease|; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; cerebrovascular disease; sickle cell anemia; Apoplexy|Myocardial ischemia|Stroke; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Myocardial Infarction; stroke, ischemic; Antiphospholipid Syndrome|Arteriosclerosis|Lupus Erythematosus, Systemic|Thrombosis; atherosclerosis; Kidney Failure, Chronic; Apoplexy|Diabetes mellitus|Hypercholesterolemia|Hyperhomocysteinemia|Hypertension|Myocardial Infarction|Stroke|Thrombophilia; Brain Ischemia|Thrombophilia; Coronary Thrombosis; Acute Coronary Syndrome|Myocardial Infarction|Recurrence; Acute Coronary Syndrome|; Bernard-Soulier Syndrome; age at first coronary bypass operation; Apoplexy|Recurrence|Stroke; coronary artery disease; platelet aggregation; Thrombocytopenia; Hemorrhage|Thrombosis; Pulmonary Embolism; Platelet Count; heart disease, ischemic; peripheral arterial disease; brain hemorrhage; hyperactive surface receptor; coronary disease; vaso-occlusive crisis; Type 2 Diabetes| edema | rosiglitazone; Brain Ischemia|Recurrence|Stroke; thrombocytopenia; myocardial infarction; sudden cardiac death; lymphoproliferative disorders; Cerebral Infarction; breast cancer; myocardial infarction; Brain Ischemia|Stroke; Hemorrhagic Disorders; lymphoproliferative disorders; blood transfusion complications; Thrombosis; angina; atherosclerosis, coronary myocardial infarct; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; cerebrovascular disease; heart disease, ischemic; myocardial infarction; sudden cardiac death; recurrent coronary event; Brain Ischemia|Stroke|Vascular Diseases; stroke; Hemolytic-Uremic Syndrome; Vascular Diseases; bleeding complications; Glomerulonephritis, IGA; thrombus formation, arterial; myocardial infarct; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Apoplexy|Carotid artery stenosis|Carotid Stenosis|Hyperhomocysteinemia|Stroke; coronary heart disease; heart disease, ischemic; normal variation; Apoplexy|Stroke; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; transient ischemic attacks; Resistance in vitro to low-dose aspirin	Homozygotes for a targeted null mutation exhibit prolonged bleeding times and reduced numbers of enlarged platelets. Heterozygotes have intermediate numbers of platelets.	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function	GO:0000902;cell morphogenesis;IEA|GO:0006469;negative regulation of protein kinase activity;IBA|GO:0007155;cell adhesion;IDA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007596;blood coagulation;TAS|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0007599;hemostasis;IEA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0030168;platelet activation;TAS|GO:0030193;regulation of blood coagulation;TAS|GO:0042730;fibrinolysis;IDA|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0070493;thrombin-activated receptor signaling pathway;IEA|GO:0070527;platelet aggregation;IEA	GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031362;anchored component of external side of plasma membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004860;protein kinase inhibitor activity;IBA|GO:0005515;protein binding;IPI|GO:0015057;thrombin-activated receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/GP1BA		https://hpo.jax.org/app/browse/search?q=GP1BA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606672	http://www.informatics.jax.org/searchtool/Search.do?query=GP1BA&submit=Quick%0D%15372ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GP1BA	rs770991996	0	0	0.0740	1	0	0	exonic	exonic	exonic	GP1BA	GP1BA	ENSG00000185245	nonframeshift substitution	nonframeshift substitution	unknown	GP1BA:NM_000173:exon2:c.1272_1311G,	GP1BA:uc021tob.1:exon1:c.1272_1311G,GP1BA:uc021tnz.1:exon2:c.1272_1311G,	UNKNOWN	Het;-GAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA	1099;4|36	Het;-GAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA	398;38|20	Hom;-GAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA	1050;0|34
N	N	-	17	48452776	48452776	A	C	snp	nonsynonymous SNV	A207C	E69D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	EME1	Eme1	ENSG00000154920	essential meiotic structure-specific endonuclease 1	chr17:48450581-48458844	This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]	Chronic renal failure|Kidney Failure, Chronic; multiple sclerosis; breast cancer; Brain Neoplasms|Glioblastoma; Brain Neoplasms|Glioma; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder	 	Fanconi Anemia Pathway	GO:0000712;resolution of meiotic recombination intermediates;IBA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IBA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0031297;replication fork processing;IBA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0036297;interstrand cross-link repair;TAS|GO:0072429;response to intra-S DNA damage checkpoint signaling;IMP|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0000790;nuclear chromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005720;nuclear heterochromatin;IEA|GO:0005730;nucleolus;IEA|GO:0048476;Holliday junction resolvase complex;IBA	GO:0003677;DNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004520;endodeoxyribonuclease activity;TAS|GO:0005515;protein binding;IPI|GO:0008821;crossover junction endodeoxyribonuclease activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EME1	https://www.uniprot.org/uniprot/Q96AY2		https://www.ncbi.nlm.nih.gov/omim/?term=610885	http://www.informatics.jax.org/searchtool/Search.do?query=EME1&submit=Quick%0D%9821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EME1	rs3760413	0.745407	0.9213	0.8180	0.08	1	13	exonic	exonic	exonic	EME1	EME1	ENSG00000154920	nonsynonymous SNV	nonsynonymous SNV	unknown	EME1:NM_001166131:exon2:c.A207C:p.E69D,EME1:NM_152463:exon2:c.A207C:p.E69D,	EME1:uc002iqs.2:exon2:c.A207C:p.E69D,EME1:uc010dbp.2:exon2:c.A207C:p.E69D,	UNKNOWN	Het;A>C	1212;76|49	Het;A>C	894;58|46	Hom;A>C	3094;2|103
N	N	-	17	48557326	48557326	G	A	snp	nonsynonymous SNV	G355A	A119T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	RSAD1	Rsad1	ENSG00000136444	radical S-adenosyl methionine domain containing 1	chr17:48556161-48563336		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006779;porphyrin-containing compound biosynthetic process;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA	GO:0003824;catalytic activity;IEA|GO:0004109;coproporphyrinogen oxidase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RSAD1	https://www.uniprot.org/uniprot/Q9HA92			http://www.informatics.jax.org/searchtool/Search.do?query=RSAD1&submit=Quick%0D%7343ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RSAD1	rs2290862	0.584465	0.7084	0.5920	0.08	1	13	exonic	exonic	exonic	RSAD1	RSAD1	ENSG00000136444	nonsynonymous SNV	nonsynonymous SNV	unknown	RSAD1:NM_018346:exon3:c.G355A:p.A119T,	RSAD1:uc002iqw.1:exon3:c.G355A:p.A119T,RSAD1:uc010wmp.2:exon3:c.G355A:p.A119T,	UNKNOWN	Het;G>A	2642;94|121	Het;G>A	1453;113|71	Hom;G>A	4011;0|146
N	N	-	17	48557348	48557348	T	C	snp	nonsynonymous SNV	T377C	L126S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	RSAD1	Rsad1	ENSG00000136444	radical S-adenosyl methionine domain containing 1	chr17:48556161-48563336		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006779;porphyrin-containing compound biosynthetic process;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA	GO:0003824;catalytic activity;IEA|GO:0004109;coproporphyrinogen oxidase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RSAD1	https://www.uniprot.org/uniprot/Q9HA92			http://www.informatics.jax.org/searchtool/Search.do?query=RSAD1&submit=Quick%0D%7343ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RSAD1	rs2290861	0.584665	0.7085	0.5926	0.23	3	13	exonic	exonic	exonic	RSAD1	RSAD1	ENSG00000136444	nonsynonymous SNV	nonsynonymous SNV	unknown	RSAD1:NM_018346:exon3:c.T377C:p.L126S,	RSAD1:uc002iqw.1:exon3:c.T377C:p.L126S,RSAD1:uc010wmp.2:exon3:c.T377C:p.L126S,	UNKNOWN	Het;T>C	2918;108|130	Het;T>C	1720;132|81	Hom;T>C	4386;3|158
N	N	-	17	4856580	4856580	T	C	snp	nonsynonymous SNV	T254C	V85A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ENO3	Eno3	ENSG00000108515	enolase 3	chr17:4851387-4860426	This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010]	Muscular Dystrophies, Limb-Girdle; longevity	 	Gluconeogenesis	GO:0006094;gluconeogenesis;TAS|GO:0006096;glycolytic process;IEA|GO:0007568;aging;IEA|GO:0021762;substantia nigra development;IEP|GO:0042493;response to drug;IEA|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0061621;canonical glycolysis;TAS	GO:0000015;phosphopyruvate hydratase complex;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0000287;magnesium ion binding;IEA|GO:0004634;phosphopyruvate hydratase activity;IEA|GO:0016829;lyase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ENO3	https://www.uniprot.org/uniprot/P13929	https://hpo.jax.org/app/browse/search?q=ENO3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=131370	http://www.informatics.jax.org/searchtool/Search.do?query=ENO3&submit=Quick%0D%3727ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ENO3	rs238239	0.303914	0.4501	0.4606	0.36	4	11	exonic	exonic	exonic	ENO3	ENO3	ENSG00000108515	nonsynonymous SNV	nonsynonymous SNV	unknown	ENO3:NM_001976:exon5:c.T254C:p.V85A,ENO3:NM_053013:exon5:c.T254C:p.V85A,	ENO3:uc002gac.4:exon5:c.T254C:p.V85A,ENO3:uc002gab.4:exon5:c.T254C:p.V85A,	UNKNOWN	Het;T>C	701;49|33	Het;T>C	745;32|35	Hom;T>C	1483;2|56
N	N	-	17	48613837	48613837	A	G	snp	nonsynonymous SNV	A167G	Q56R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	EPN3	Epn3	ENSG00000049283	epsin 3	chr17:48609904-48621111			Mice homozygous for a knock-out allele are phenotypically normal.			GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0019897;extrinsic component of plasma membrane;IDA|GO:0030136;clathrin-coated vesicle;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:1990175;EH domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPN3	https://www.uniprot.org/uniprot/Q9H201		https://www.ncbi.nlm.nih.gov/omim/?term=607264	http://www.informatics.jax.org/searchtool/Search.do?query=EPN3&submit=Quick%0D%908ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPN3	rs3785915	0.800719	0	0.7528	1	0	0	UTR5	exonic	exonic	EPN3(NM_017957:c.-81A>G)	EPN3	ENSG00000049283	Na	nonsynonymous SNV	unknown	Na	EPN3:uc010wms.2:exon2:c.A167G:p.Q56R,	UNKNOWN	Het;A>G	771;16|27	Het;A>G	432;16|16	Hom;A>G	370;0|11
N	N	-	17	48625928	48625928	C	G	snp	nonsynonymous SNV	C310G	Q104E	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	SPATA20	Spata20	ENSG00000006282	spermatogenesis associated 20	chr17:48620419-48633213			Mice homozygous for a knock-out allele exhibit male infertility, small testes, severe oligoasthenoteratozoospermia, and abnormal manchette morphology during spermiogenesis resulting in impaired sperm head formation.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0005576;extracellular region;IEA	GO:0003824;catalytic activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPATA20	https://www.uniprot.org/uniprot/Q8TB22		https://www.ncbi.nlm.nih.gov/omim/?term=613939	http://www.informatics.jax.org/searchtool/Search.do?query=SPATA20&submit=Quick%0D%394ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA20	rs8076632	0.33746	0.4541	0.3264	0.38	5	13	exonic	exonic	exonic	SPATA20	SPATA20	ENSG00000006282	nonsynonymous SNV	nonsynonymous SNV	unknown	SPATA20:NM_001258373:exon4:c.C130G:p.Q44E,SPATA20:NM_022827:exon4:c.C310G:p.Q104E,SPATA20:NM_001258372:exon3:c.C262G:p.Q88E,	SPATA20:uc002ird.3:exon4:c.C310G:p.Q104E,SPATA20:uc002ire.3:exon4:c.C130G:p.Q44E,SPATA20:uc002irf.3:exon3:c.C262G:p.Q88E,SPATA20:uc010wmv.1:exon3:c.C262G:p.Q88E,	UNKNOWN	Het;C>G	2584;93|101	Ref		Hom;C>G	4876;1|158
N	N	-	17	48629458	48629458	A	G	snp	nonsynonymous SNV	A1874G	K625R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	SPATA20	Spata20	ENSG00000006282	spermatogenesis associated 20	chr17:48620419-48633213			Mice homozygous for a knock-out allele exhibit male infertility, small testes, severe oligoasthenoteratozoospermia, and abnormal manchette morphology during spermiogenesis resulting in impaired sperm head formation.		GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0005576;extracellular region;IEA	GO:0003824;catalytic activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPATA20	https://www.uniprot.org/uniprot/Q8TB22		https://www.ncbi.nlm.nih.gov/omim/?term=613939	http://www.informatics.jax.org/searchtool/Search.do?query=SPATA20&submit=Quick%0D%394ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA20	rs8065903	0.860623	0.8116	0.7864	0.08	1	13	exonic	exonic	exonic	SPATA20	SPATA20	ENSG00000006282	nonsynonymous SNV	nonsynonymous SNV	unknown	SPATA20:NM_001258373:exon14:c.A1694G:p.K565R,SPATA20:NM_022827:exon14:c.A1874G:p.K625R,SPATA20:NM_001258372:exon13:c.A1826G:p.K609R,	SPATA20:uc002ird.3:exon14:c.A1874G:p.K625R,SPATA20:uc002ire.3:exon14:c.A1694G:p.K565R,SPATA20:uc002irf.3:exon13:c.A1826G:p.K609R,SPATA20:uc002irc.3:exon15:c.A827G:p.K276R,	UNKNOWN	Het;A>G	2356;143|102	Het;A>G	1899;127|94	Hom;A>G	6951;0|244
N	N	-	17	53076799	53076799	G	A	snp	nonsynonymous SNV	G43A	G15R	aliphatic,neutral	polar,hydrophilic,charged(+)	STXBP4	Stxbp4	ENSG00000166263	syntaxin binding protein 4	chr17:53046088-53241646		Cholesterol; Type 2 diabetes; Hippocampus; Cholesterol, LDL; breast cancer; Body Mass Index; Inflammatory Bowel Diseases	 		GO:0006605;protein targeting;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0010838;positive regulation of keratinocyte proliferation;IMP|GO:0015758;glucose transport;IEA|GO:0050821;protein stabilization;IMP|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IDA|GO:1902808;positive regulation of cell cycle G1/S phase transition;IMP	GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STXBP4			https://www.ncbi.nlm.nih.gov/omim/?term=610415	http://www.informatics.jax.org/searchtool/Search.do?query=STXBP4&submit=Quick%0D%11743ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP4	rs1156287	0.852436	0.7809	0.7803	0.15	2	13	exonic	exonic	exonic	STXBP4	STXBP4	ENSG00000166263	nonsynonymous SNV	nonsynonymous SNV	unknown	STXBP4:NM_178509:exon5:c.G274A:p.G92R,	STXBP4:uc010dcc.1:exon4:c.G43A:p.G15R,STXBP4:uc002iuf.1:exon5:c.G274A:p.G92R,STXBP4:uc010dcd.1:exon5:c.G274A:p.G92R,	UNKNOWN	Het;G>A	1219;53|56	Ref		Hom;G>A	3286;2|121
N	N	-	17	53076986	53076986	G	A	snp	splicing	57-1G>A	 	 	 	STXBP4	Stxbp4	ENSG00000166263	syntaxin binding protein 4	chr17:53046088-53241646		Cholesterol; Type 2 diabetes; Hippocampus; Cholesterol, LDL; breast cancer; Body Mass Index; Inflammatory Bowel Diseases	 		GO:0006605;protein targeting;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0010838;positive regulation of keratinocyte proliferation;IMP|GO:0015758;glucose transport;IEA|GO:0050821;protein stabilization;IMP|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IDA|GO:1902808;positive regulation of cell cycle G1/S phase transition;IMP	GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/STXBP4			https://www.ncbi.nlm.nih.gov/omim/?term=610415	http://www.informatics.jax.org/searchtool/Search.do?query=STXBP4&submit=Quick%0D%11743ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP4	rs11658717	0.771366	0.6926	0.7559	0.25	1	4	intronic	splicing	splicing	STXBP4	STXBP4(uc010dcc.1:exon5:c.57-1G>A)	ENSG00000166263(ENST00000299341:exon6:c.57-1G>A,ENST00000398391:exon5:c.57-1G>A)	Na	Na	Na	Na	Na	Na	Het;G>A	614;22|25	Ref		Hom;G>A	1856;0|68
N	N	-	17	56247101	56247101	C	A	snp	nonsynonymous SNV	C85A	L29I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR4D2	Olfr463	ENSG00000255713	olfactory receptor family 4 subfamily D member 2	chr17:56247017-56247940	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR4D2				http://www.informatics.jax.org/searchtool/Search.do?query=OR4D2&submit=Quick%0D%20153ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4D2	rs60994383	0.235224	0.2714	0.2269	0.08	1	13	exonic	exonic	exonic	OR4D2	OR4D2	ENSG00000255713	nonsynonymous SNV	nonsynonymous SNV	unknown	OR4D2:NM_001004707:exon1:c.C85A:p.L29I,	OR4D2:uc010wnp.2:exon1:c.C85A:p.L29I,	UNKNOWN	Het;C>A	1479;54|61	Ref		Hom;C>A	2704;0|98
N	N	-	17	56271094	56271094	G	C	snp	nonsynonymous SNV	G366C	Q122H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	EPX	Epx	ENSG00000121053	eosinophil peroxidase	chr17:56270098-56282535	This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016]	esophageal adenocarcinoma	Targeted deletion of this gene results in ultrastructural changes of the eosinophil secondary granule but does not significantly alter the course of inflammation or development of allergic pulmonary pathologies in an ovalbumin-challenge model of pulmonary inflammation.	Neutrophil degranulation	GO:0002215;defense response to nematode;IEA|GO:0006952;defense response;IEA|GO:0006979;response to oxidative stress;IEA|GO:0032693;negative regulation of interleukin-10 production;IEA|GO:0032714;negative regulation of interleukin-5 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0042744;hydrogen peroxide catabolic process;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0072677;eosinophil migration;IEA|GO:0098869;cellular oxidant detoxification;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004601;peroxidase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPX	https://www.uniprot.org/uniprot/P11678		https://www.ncbi.nlm.nih.gov/omim/?term=131399	http://www.informatics.jax.org/searchtool/Search.do?query=EPX&submit=Quick%0D%5281ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPX	rs11652709	0.213658	0.2922	0.2876	0.54	7	13	exonic	exonic	exonic	EPX	EPX	ENSG00000121053	nonsynonymous SNV	nonsynonymous SNV	unknown	EPX:NM_000502:exon4:c.G366C:p.Q122H,	EPX:uc002ivq.3:exon4:c.G366C:p.Q122H,	UNKNOWN	Het;G>C	2162;85|90	Het;G>C	1912;101|87	Hom;G>C	4507;1|169
N	N	-	17	56327999	56327999	A	G	snp	stoploss	A797G	X266W	 	aromatic,hydrophobic,neutral	LPO	Lpo	ENSG00000167419	lactoperoxidase	chr17:56295909-56345879	This gene encodes a member of the peroxidase family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Following its secretion from salivary, mammary, and other mucosal glands, this enzyme catalyzes the generation of the antimicrobial substance hypothiocyanous acid. This gene is present in a gene cluster on chromosome 17. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]	Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Occupational Diseases	 		GO:0001580;detection of chemical stimulus involved in sensory perception of bitter taste;IDA|GO:0006979;response to oxidative stress;IEA|GO:0018969;thiocyanate metabolic process;IEA|GO:0042742;defense response to bacterium;IEA|GO:0042744;hydrogen peroxide catabolic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IBA|GO:0016323;basolateral plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0004601;peroxidase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0020037;heme binding;IEA|GO:0036393;thiocyanate peroxidase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LPO			https://www.ncbi.nlm.nih.gov/omim/?term=150205	http://www.informatics.jax.org/searchtool/Search.do?query=LPO&submit=Quick%0D%12013ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LPO	rs7208924	0.348842	0.3829	0.3465	1	0	0	intronic	exonic	intronic	LPO	LPO	ENSG00000167419	Na	stoploss	Na	Na	LPO:uc010dco.2:exon7:c.A797G:p.X266W,LPO:uc010wnr.1:exon5:c.A548G:p.X183W,	Na	Het;A>G	1175;40|47	Het;A>G	1064;37|48	Hom;A>G	2720;0|99
N	N	-	17	56659018	56659018	C	T	snp	nonsynonymous SNV	G3245A	G1082D	aliphatic,neutral	polar,hydrophilic,charged(-)	TEX14	Tex14	ENSG00000121101	testis expressed 14, intercellular bridge forming factor	chr17:56634039-56769416	The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]	breast cancer ; Azoospermia|Oligospermia	Males homozygous for a targeted allele are infertile due to spermatogenic failure.		GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0007094;mitotic spindle assembly checkpoint;IBA|GO:0007140;male meiotic nuclear division;IBA|GO:0008608;attachment of spindle microtubules to kinetochore;IBA|GO:0032091;negative regulation of protein binding;IEA|GO:0032466;negative regulation of cytokinesis;IEA|GO:0043063;intercellular bridge organization;IBA|GO:0051301;cell division;IEA|GO:0051306;mitotic sister chromatid separation;ISS	GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IBA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005623;cell;ISS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0030496;midbody;IBA|GO:0045171;intercellular bridge;IBA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TEX14	https://www.uniprot.org/uniprot/Q8IWB6	https://hpo.jax.org/app/browse/search?q=TEX14&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605792	http://www.informatics.jax.org/searchtool/Search.do?query=TEX14&submit=Quick%0D%5290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TEX14	rs6503870	0.607428	0.6529	0.5923	0.08	1	13	exonic	exonic	exonic	TEX14	TEX14	ENSG00000121101	nonsynonymous SNV	nonsynonymous SNV	unknown	TEX14:NM_198393:exon20:c.G3245A:p.G1082D,TEX14:NM_001201457:exon20:c.G3263A:p.G1088D,	TEX14:uc002iwr.2:exon20:c.G3245A:p.G1082D,TEX14:uc010dcz.2:exon20:c.G3263A:p.G1088D,	UNKNOWN	Het;C>T	859;47|42	Het;C>T	910;77|50	Hom;C>T	2435;0|94
N	N	-	17	56833457	56833457	G	GGAACCC	indel	nonframeshift substitution	99_99delinsGGAACCC	 	 	 	PPM1E	Ppm1e	ENSG00000175175	protein phosphatase, Mg2+/Mn2+ dependent 1E	chr17:56833230-57058983	This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]	breast cancer ; Cognitive test performance; Neuropsychological Tests	 		GO:0006469;negative regulation of protein kinase activity;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0035690;cellular response to drug;IDA|GO:0035970;peptidyl-threonine dephosphorylation;IDA|GO:0051496;positive regulation of stress fiber assembly;IDA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0043234;protein complex;IDA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0043169;cation binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPM1E				http://www.informatics.jax.org/searchtool/Search.do?query=PPM1E&submit=Quick%0D%13649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPM1E	rs201186780	0.388978	0.5955	0.5312	1	0	0	exonic	exonic	exonic	PPM1E	PPM1E	ENSG00000175175	nonframeshift substitution	nonframeshift substitution	unknown	PPM1E:NM_014906:exon1:c.99_99delinsGGAACCC,	PPM1E:uc002iwx.4:exon1:c.99_99delinsGGAACCC,	UNKNOWN	Het;+GAACCC	3178;104|82	Het;+GAACCC	3923;66|99	Hom;+GAACCC	7043;2|162
N	N	-	17	60351457	60351457	G	A	snp	nonsynonymous SNV	C20T	A7V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TBC1D3P2																		rs4968502	0.314696	0	0.3261	1	0	0	ncRNA_exonic	exonic	exonic	TBC1D3P2	TBC1D3P2	ENSG00000270033	Na	nonsynonymous SNV	unknown	Na	TBC1D3P2:uc002izq.2:exon2:c.C20T:p.A7V,	UNKNOWN	Het;G>A	3994;276|194	Ref		Hom;G>A	8206;0|316
N	N	-	17	60741917	60741917	G	A	snp	nonsynonymous SNV	G127A	V43I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MRC2	Mrc2	ENSG00000011028	mannose receptor C type 2	chr17:60704762-60770958	This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling by mediating the internalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role in the tumorigenesis and metastasis of several malignancies including breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012]	head and neck cancer	Homozygous mice are visibly normal, viable and have no reproductive defects.  Mouse embryonic fibroblasts derived from null mice exhibit decreased migration while bone marrow-derived macrophages exhibit increased migration.	Cross-presentation of soluble exogenous antigens (endosomes)	GO:0001649;osteoblast differentiation;IDA|GO:0006897;endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0030574;collagen catabolic process;IDA	GO:0005887;integral component of plasma membrane;IBA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0004888;transmembrane signaling receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MRC2	https://www.uniprot.org/uniprot/Q9UBG0		https://www.ncbi.nlm.nih.gov/omim/?term=612264	http://www.informatics.jax.org/searchtool/Search.do?query=MRC2&submit=Quick%0D%539ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRC2	rs2014055	0.0830671	0.1279	0.1419	0.15	2	13	exonic	exonic	exonic	MRC2	MRC2	ENSG00000011028	nonsynonymous SNV	nonsynonymous SNV	unknown	MRC2:NM_006039:exon2:c.G127A:p.V43I,	MRC2:uc002jad.4:exon2:c.G127A:p.V43I,	UNKNOWN	Het;G>A	993;43|45	Ref		Hom;G>A	2200;0|78
N	N	-	17	62079286	62079286	G	A	snp	nonsynonymous SNV	G662A	C221Y	polar,hydrophobic,neutral	aromatic,polar,hydrophobic	C17orf72	 																	rs12939821	0.357827	0	0.4590	0.17	2	12	exonic	exonic	exonic	PRR29	C17orf72	ENSG00000224383	nonsynonymous SNV	nonsynonymous SNV	unknown	PRR29:NM_001191029:exon5:c.G662A:p.C221Y,	C17orf72:uc010wpw.2:exon5:c.G662A:p.C221Y,	UNKNOWN	Het;G>A	2307;123|109	Ref		Hom;G>A	5228;2|192
N	N	-	17	64210757	64210757	C	A	snp	nonsynonymous SNV	G796T	V266L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	APOH	Apoh	ENSG00000091583	apolipoprotein H	chr17:64208151-64252643	Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies.  APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq, Jul 2008]	C-Reactive Protein; stroke; lipids; stroke; lipids; Antiphospholipid Syndrome|Leprosy, Multibacillary; Antiphospholipid Syndrome|Thrombosis; arterial thrombosis thromboembolism, venous; Type 2 Diabetes| edema | rosiglitazone; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein; antiphospholipid syndrome; lipid metabolism; Cerebral Infarction|; lipoprotein; brain hemorrhage; systemic lupus erythematosus; Kidney Failure, Chronic; BMI rosiglitazone or pioglitazone; null; Leprosy, Multibacillary|Leprosy, Paucibacillary; Carotid Stenosis|Lupus Erythematosus, Systemic|Lupus Nephritis; lipoprotein; antiphospholipid syndrome; Hypercholesterolemia|LDLC levels; reduced gene expression and lower plasma levels of beta2-glycoprotein I	Homozygous mutation of this gene results in reduced viability and reduced thrombin production. Only 8% homozygous null animals are born from heterozygous intercrosses.	Platelet degranulation 	GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0002576;platelet degranulation;TAS|GO:0006641;triglyceride metabolic process;IDA|GO:0007597;blood coagulation, intrinsic pathway;IDA|GO:0010596;negative regulation of endothelial cell migration;IDA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030193;regulation of blood coagulation;IEA|GO:0030194;positive regulation of blood coagulation;TAS|GO:0030195;negative regulation of blood coagulation;IDA|GO:0031639;plasminogen activation;IDA|GO:0033033;negative regulation of myeloid cell apoptotic process;IDA|GO:0034197;triglyceride transport;ISS|GO:0034392;negative regulation of smooth muscle cell apoptotic process;IDA|GO:0051006;positive regulation of lipoprotein lipase activity;IDA|GO:0051917;regulation of fibrinolysis;IDA|GO:0051918;negative regulation of fibrinolysis;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0031012;extracellular matrix;IDA|GO:0031089;platelet dense granule lumen;TAS|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0042627;chylomicron;IDA|GO:0070062;extracellular exosome;IDA	GO:0001948;glycoprotein binding;IPI|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008201;heparin binding;IEA|GO:0008289;lipid binding;IDA|GO:0042802;identical protein binding;IPI|GO:0060230;lipoprotein lipase activator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/APOH	https://www.uniprot.org/uniprot/P02749		https://www.ncbi.nlm.nih.gov/omim/?term=138700	http://www.informatics.jax.org/searchtool/Search.do?query=APOH&submit=Quick%0D%2156ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOH	rs4581	0.541534	0.3297	0.3738	0.08	1	13	exonic	exonic	exonic	APOH	APOH	ENSG00000091583	nonsynonymous SNV	nonsynonymous SNV	unknown	APOH:NM_000042:exon7:c.G796T:p.V266L,	APOH:uc002jfn.4:exon7:c.G796T:p.V266L,	UNKNOWN	Het;C>A	1975;134|95	Ref		Hom;C>A	5783;0|213
N	N	-	17	71196809	71196809	A	G	snp	nonsynonymous SNV	A1175G	N392S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	COG1	Cog1	ENSG00000166685	component of oligomeric golgi complex 1	chr17:71189129-71204646	The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]	Alzheimer's disease	 	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COG1		https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606973	http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1	rs1026128	0.520966	0.5321	0.5231	0.08	1	13	exonic	exonic	exonic	COG1	COG1	ENSG00000166685	nonsynonymous SNV	nonsynonymous SNV	unknown	COG1:NM_018714:exon6:c.A1175G:p.N392S,	COG1:uc002jjg.3:exon6:c.A1175G:p.N392S,COG1:uc002jjh.3:exon6:c.A1175G:p.N392S,COG1:uc002jjf.1:exon6:c.A1175G:p.N392S,	UNKNOWN	Het;A>G	1710;107|77	Het;A>G	2140;89|89	Hom;A>G	4862;1|174
N	N	-	17	71232687	71232687	T	C	snp	nonsynonymous SNV	T1066C	F356L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs745143	0.519369	0.5309	0.5234	0.15	2	13	exonic	exonic	exonic	C17orf80	C17orf80	ENSG00000141219	nonsynonymous SNV	nonsynonymous SNV	unknown	C17orf80:NM_001100621:exon3:c.T1066C:p.F356L,C17orf80:NM_001288770:exon3:c.T1066C:p.F356L,C17orf80:NM_017941:exon3:c.T1066C:p.F356L,C17orf80:NM_001288771:exon3:c.T1066C:p.F356L,C17orf80:NM_001100622:exon3:c.T1066C:p.F356L,	C17orf80:uc010wqu.1:exon3:c.T1066C:p.F356L,C17orf80:uc002jjk.1:exon3:c.T1066C:p.F356L,C17orf80:uc002jjm.4:exon3:c.T1066C:p.F356L,C17orf80:uc010dfj.3:exon3:c.T1066C:p.F356L,C17orf80:uc002jjl.4:exon3:c.T1066C:p.F356L,	UNKNOWN	Het;T>C	1849;80|70	Het;T>C	1983;74|74	Hom;T>C	4137;1|143
N	N	-	17	71232807	71232807	T	C	snp	nonsynonymous SNV	T1186C	C396R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs904383	0.522364	0.5335	0.5259	0.08	1	13	exonic	exonic	exonic	C17orf80	C17orf80	ENSG00000141219	nonsynonymous SNV	nonsynonymous SNV	unknown	C17orf80:NM_001100621:exon3:c.T1186C:p.C396R,C17orf80:NM_001288770:exon3:c.T1186C:p.C396R,C17orf80:NM_017941:exon3:c.T1186C:p.C396R,C17orf80:NM_001288771:exon3:c.T1186C:p.C396R,C17orf80:NM_001100622:exon3:c.T1186C:p.C396R,	C17orf80:uc010wqu.1:exon3:c.T1186C:p.C396R,C17orf80:uc002jjk.1:exon3:c.T1186C:p.C396R,C17orf80:uc002jjm.4:exon3:c.T1186C:p.C396R,C17orf80:uc010dfj.3:exon3:c.T1186C:p.C396R,C17orf80:uc002jjl.4:exon3:c.T1186C:p.C396R,	UNKNOWN	Het;T>C	1121;57|49	Het;T>C	1103;62|49	Hom;T>C	4707;0|105
N	N	-	17	71232881	71232881	G	C	snp	nonsynonymous SNV	G1260C	Q420H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs745142	0.521765	0.5337	0.5259	0.15	2	13	exonic	exonic	exonic	C17orf80	C17orf80	ENSG00000141219	nonsynonymous SNV	nonsynonymous SNV	unknown	C17orf80:NM_001100621:exon3:c.G1260C:p.Q420H,C17orf80:NM_001288770:exon3:c.G1260C:p.Q420H,C17orf80:NM_017941:exon3:c.G1260C:p.Q420H,C17orf80:NM_001288771:exon3:c.G1260C:p.Q420H,C17orf80:NM_001100622:exon3:c.G1260C:p.Q420H,	C17orf80:uc010wqu.1:exon3:c.G1260C:p.Q420H,C17orf80:uc002jjk.1:exon3:c.G1260C:p.Q420H,C17orf80:uc002jjm.4:exon3:c.G1260C:p.Q420H,C17orf80:uc010dfj.3:exon3:c.G1260C:p.Q420H,C17orf80:uc002jjl.4:exon3:c.G1260C:p.Q420H,	UNKNOWN	Het;G>C	1106;56|45	Het;G>C	1308;78|57	Hom;G>C	2745;0|94
N	N	-	17	71238433	71238433	G	A	snp	nonsynonymous SNV	G1564A	A522T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	C17orf80	D11Wsu47e	ENSG00000141219	chromosome 17 open reading frame 80	chr17:71228372-71245091			 		GO:0008150;biological_process;ND	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/C17orf80	https://www.uniprot.org/uniprot/Q9BSJ5			http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80	rs1566286	0.515974	0.5264	0.5217	0.15	2	13	exonic	exonic	exonic	C17orf80	C17orf80	ENSG00000141219	nonsynonymous SNV	nonsynonymous SNV	unknown	C17orf80:NM_017941:exon4:c.G1564A:p.A522T,C17orf80:NM_001100622:exon4:c.G1564A:p.A522T,	C17orf80:uc002jjk.1:exon4:c.G1564A:p.A522T,C17orf80:uc002jjm.4:exon4:c.G1564A:p.A522T,	UNKNOWN	Het;G>A	533;22|24	Het;G>A	658;25|31	Hom;G>A	1511;0|59
N	N	-	17	72839130	72839130	A	AGCTCCGGGG	indel	nonframeshift substitution	3146_3146delinsCCCCGGAGCT	 	 	 	GRIN2C	Grin2c	ENSG00000161509	glutamate ionotropic receptor NMDA type subunit 2C	chr17:72838162-72857627	This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]	Bipolar Disorder; schizophrenia; alcohol consumption; Weight Gain	Homozygotes for targeted null mutations exhibit deficits in motor coordination and reduced granule cell responses to N-methy-D-aspartate in brain slices.	Synaptic adhesion-like molecules	GO:0000165;MAPK cascade;TAS|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0007215;glutamate receptor signaling pathway;TAS|GO:0008104;protein localization;IEA|GO:0009611;response to wounding;IEA|GO:0033058;directional locomotion;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0042177;negative regulation of protein catabolic process;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017146;NMDA selective glutamate receptor complex;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0004972;NMDA glutamate receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GRIN2C			https://www.ncbi.nlm.nih.gov/omim/?term=138254	http://www.informatics.jax.org/searchtool/Search.do?query=GRIN2C&submit=Quick%0D%10578ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIN2C	rs139495021	0.796326	0.8310	0.7857	1	0	0	exonic	exonic	exonic	GRIN2C	GRIN2C	ENSG00000161509	nonframeshift substitution	nonframeshift substitution	unknown	GRIN2C:NM_000835:exon13:c.3146_3146delinsCCCCGGAGCT,	GRIN2C:uc002jlt.1:exon13:c.3146_3146delinsCCCCGGAGCT,	UNKNOWN	Het;+GCTCCGGGG	463;29|14	Het;+GCTCCGGGG	355;23|11	Hom;+GCTCCGGGG	1931;0|40
N	N	-	17	73257986	73257986	C	T	snp	nonsynonymous SNV	C5T	A2V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MRPS7	Mrps7	ENSG00000125445	mitochondrial ribosomal protein S7	chr17:73257755-73262454	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial translation termination	GO:0006412;translation;IEA|GO:0032543;mitochondrial translation;ISS|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005763;mitochondrial small ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;ISS	http://www.genecards.org/index.php?path=/Search/keyword/MRPS7	https://www.uniprot.org/uniprot/Q9Y2R9	https://hpo.jax.org/app/browse/search?q=MRPS7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611974	http://www.informatics.jax.org/searchtool/Search.do?query=MRPS7&submit=Quick%0D%5773ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPS7	rs8075276	0.657348	0.6599	0.7958	0.31	4	13	exonic	exonic	exonic	MRPS7	MRPS7	ENSG00000125445	nonsynonymous SNV	nonsynonymous SNV	unknown	MRPS7:NM_015971:exon1:c.C5T:p.A2V,	MRPS7:uc002jnm.4:exon1:c.C5T:p.A2V,	UNKNOWN	Het;C>T	348;11|17	Het;C>T	432;13|20	Hom;C>T	1578;0|63
N	N	-	17	73268801	73268801	C	T	snp	nonsynonymous SNV	C677T	A226V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LOC100287042																		rs3744231	0.536741	0	0.6524	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	LOC100287042	LOC100287042	ENSG00000263843	Na	nonsynonymous SNV	Na	Na	LOC100287042:uc021ucy.1:exon1:c.C677T:p.A226V,	Na	Het;C>T	1729;111|77	Het;C>T	1797;100|80	Hom;C>T	4721;2|170
N	N	-	17	75494705	75494705	A	G	snp	nonsynonymous SNV	A1726G	M576V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	SEPT9	Sep9																	rs2627223	0.90655	0.8923	0.9371	0.08	1	13	exonic	exonic	exonic	SEPT9	SEPT9	ENSG00000184640	nonsynonymous SNV	nonsynonymous SNV	unknown	SEPT9:NM_001113496:exon10:c.A973G:p.M325V,SEPT9:NM_001113494:exon11:c.A1234G:p.M412V,SEPT9:NM_001113492:exon12:c.A1234G:p.M412V,SEPT9:NM_001113491:exon12:c.A1726G:p.M576V,SEPT9:NM_001293696:exon10:c.A1054G:p.M352V,SEPT9:NM_001293697:exon10:c.A973G:p.M325V,SEPT9:NM_006640:exon11:c.A1672G:p.M558V,SEPT9:NM_001293698:exon10:c.A973G:p.M325V,SEPT9:NM_001113495:exon10:c.A1390G:p.M464V,SEPT9:NM_001113493:exon11:c.A1705G:p.M569V,SEPT9:NM_001293695:exon11:c.A1669G:p.M557V,	SEPT9:uc002jts.4:exon12:c.A1726G:p.M576V,SEPT9:uc002jtv.3:exon11:c.A1705G:p.M569V,SEPT9:uc002jtw.3:exon11:c.A1234G:p.M412V,SEPT9:uc010wtm.2:exon10:c.A973G:p.M325V,SEPT9:uc010wtk.2:exon11:c.A1669G:p.M557V,SEPT9:uc002jtt.4:exon12:c.A1234G:p.M412V,SEPT9:uc002jtu.4:exon11:c.A1672G:p.M558V,SEPT9:uc002jty.4:exon10:c.A973G:p.M325V,SEPT9:uc010dhd.3:exon10:c.A1390G:p.M464V,SEPT9:uc010wtn.2:exon10:c.A973G:p.M325V,SEPT9:uc010wtl.2:exon10:c.A1054G:p.M352V,	UNKNOWN	Het;A>G	336;51|22	Het;A>G	509;32|26	Hom;A>G	2010;0|80
N	N	-	17	78293189	78293189	A	T	snp	nonsynonymous SNV	A3101T	K1034M	polar,hydrophilic,charged(+)	hydrophobic,neutral	RNF213	Rnf213	ENSG00000173821	ring finger protein 213	chr17:78234665-78372586	This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]	Moyamoya Disease	Mice homozygous for a knock-out allele exhibit decreased body weight and circulating glucose level but normal glucose tolerance, insulin sensitivity, insulin plasma levels and leptin plasma levels.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0001525;angiogenesis;IEA|GO:0002040;sprouting angiogenesis;IMP|GO:0006511;ubiquitin-dependent protein catabolic process;IMP|GO:0016567;protein ubiquitination;IEA|GO:0051260;protein homooligomerization;IDA|GO:0051865;protein autoubiquitination;IDA|GO:2000051;negative regulation of non-canonical Wnt signaling pathway;IMP	GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNF213		https://hpo.jax.org/app/browse/search?q=RNF213&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613768	http://www.informatics.jax.org/searchtool/Search.do?query=RNF213&submit=Quick%0D%13430ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF213	rs55996424	0.329673	0.1895	0.2373	0.17	2	12	exonic	exonic	exonic	RNF213	RNF213	ENSG00000173821	nonsynonymous SNV	nonsynonymous SNV	unknown	RNF213:NM_020954:exon17:c.A3101T:p.K1034M,	RNF213:uc002jyf.4:exon17:c.A3101T:p.K1034M,	UNKNOWN	Het;A>T	1445;83|62	Het;A>T	1276;77|57	Hom;A>T	3955;0|143
N	N	-	17	79279017	79279017	C	G	snp	nonsynonymous SNV	G148C	V50L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LINC00482																		rs2056439	0.434305	0	0.4063	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	LINC00482	LINC00482	ENSG00000185168	Na	nonsynonymous SNV	Na	Na	LINC00482:uc002kac.1:exon4:c.G148C:p.V50L,	Na	Het;C>G	1825;44|48	Het;C>G	689;44|28	Hom;C>G	2942;0|83
N	N	-	17	8048010	8048010	C	A	snp	nonsynonymous SNV	G2472T	W824C	aromatic,hydrophobic,neutral	polar,hydrophobic,neutral	PER1	Per1	ENSG00000179094	period circadian clock 1	chr17:8043790-8059824	This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014]	autism; breast cancer; depression; schizophrenia | bipolar disorder; diurnal preference; Prostatic Neoplasms; cocaine abuse; delayed sleep phase syndrome; Sleep Disorders; bipolar disorder; ADHD | attention-deficit hyperactivity disorder; Autism; prostate cancer	Homozygous null mice display a persistent circadian rhythm, but they have a shorter period and their ability to maintain the precision and the stability of the period is impaired.	Circadian Clock	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002028;regulation of sodium ion transport;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007623;circadian rhythm;TAS|GO:0009416;response to light stimulus;IEA|GO:0009649;entrainment of circadian clock;TAS|GO:0010608;posttranscriptional regulation of gene expression;IEA|GO:0032922;circadian regulation of gene expression;IDA|GO:0042634;regulation of hair cycle;IMP|GO:0042752;regulation of circadian rhythm;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;ISS|GO:0043153;entrainment of circadian clock by photoperiod;IEA|GO:0043966;histone H3 acetylation;IDA|GO:0043967;histone H4 acetylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046329;negative regulation of JNK cascade;ISS|GO:0048511;rhythmic process;IEA|GO:0051591;response to cAMP;IEA|GO:0070932;histone H3 deacetylation;IEA|GO:0097167;circadian regulation of translation;IEA|GO:1900015;regulation of cytokine production involved in inflammatory response;ISS|GO:1900744;regulation of p38MAPK cascade;ISS|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA	GO:0000976;transcription regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0019900;kinase binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0070888;E-box binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PER1			https://www.ncbi.nlm.nih.gov/omim/?term=602260	http://www.informatics.jax.org/searchtool/Search.do?query=PER1&submit=Quick%0D%14290ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PER1	rs2289591	0.0936502	0	0.1984	0.18	2	11	intronic	exonic	exonic	PER1	PER1	ENSG00000179094	Na	nonsynonymous SNV	unknown	Na	PER1:uc010vur.1:exon18:c.G2472T:p.W824C,	UNKNOWN	Het;C>A	188;12|7	Het;C>A	283;4|10	Hom;C>A	272;0|9
N	N	-	18	28919779	28919779	A	C	snp	nonsynonymous SNV	A1478C	N493T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	DSG1	Dsg1b	ENSG00000134760	desmoglein 1	chr18:28898052-28936992	This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]	pemphigus foliaceus; Esophagitis; eosinophilic esophagitis (pediatric) 	 	Formation of the cornified envelope	GO:0007043;cell-cell junction assembly;NAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0031424;keratinization;TAS|GO:0032570;response to progesterone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050821;protein stabilization;IDA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0070268;cornification;TAS	GO:0001533;cornified envelope;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0015643;toxic substance binding;NAS|GO:0045295;gamma-catenin binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DSG1	https://www.uniprot.org/uniprot/Q02413	https://hpo.jax.org/app/browse/search?q=DSG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=125670	http://www.informatics.jax.org/searchtool/Search.do?query=DSG1&submit=Quick%0D%7027ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DSG1	rs8091003	0.235224	0.2034	0.1298	0.08	1	13	exonic	exonic	exonic	DSG1	DSG1	ENSG00000134760	nonsynonymous SNV	nonsynonymous SNV	unknown	DSG1:NM_001942:exon11:c.A1478C:p.N493T,	DSG1:uc002kwp.3:exon11:c.A1478C:p.N493T,	UNKNOWN	Het;A>C	945;46|41	Het;A>C	1316;72|58	Hom;A>C	3364;0|122
N	N	-	18	28919794	28919794	C	A	snp	nonsynonymous SNV	C1493A	T498N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	DSG1	Dsg1b	ENSG00000134760	desmoglein 1	chr18:28898052-28936992	This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]	pemphigus foliaceus; Esophagitis; eosinophilic esophagitis (pediatric) 	 	Formation of the cornified envelope	GO:0007043;cell-cell junction assembly;NAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0031424;keratinization;TAS|GO:0032570;response to progesterone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050821;protein stabilization;IDA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0070268;cornification;TAS	GO:0001533;cornified envelope;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0015643;toxic substance binding;NAS|GO:0045295;gamma-catenin binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DSG1	https://www.uniprot.org/uniprot/Q02413	https://hpo.jax.org/app/browse/search?q=DSG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=125670	http://www.informatics.jax.org/searchtool/Search.do?query=DSG1&submit=Quick%0D%7027ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DSG1	rs8091117	0.223442	0.1919	0.1265	0.08	1	13	exonic	exonic	exonic	DSG1	DSG1	ENSG00000134760	nonsynonymous SNV	nonsynonymous SNV	unknown	DSG1:NM_001942:exon11:c.C1493A:p.T498N,	DSG1:uc002kwp.3:exon11:c.C1493A:p.T498N,	UNKNOWN	Het;C>A	954;54|46	Het;C>A	1426;76|66	Hom;C>A	3470;1|129
N	N	-	18	28919884	28919884	A	C	snp	nonsynonymous SNV	A1583C	Y528S	aromatic,polar,hydrophobic	polar,hydrophilic,neutral	DSG1	Dsg1b	ENSG00000134760	desmoglein 1	chr18:28898052-28936992	This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]	pemphigus foliaceus; Esophagitis; eosinophilic esophagitis (pediatric) 	 	Formation of the cornified envelope	GO:0007043;cell-cell junction assembly;NAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0031424;keratinization;TAS|GO:0032570;response to progesterone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050821;protein stabilization;IDA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0070268;cornification;TAS	GO:0001533;cornified envelope;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0015643;toxic substance binding;NAS|GO:0045295;gamma-catenin binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DSG1	https://www.uniprot.org/uniprot/Q02413	https://hpo.jax.org/app/browse/search?q=DSG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=125670	http://www.informatics.jax.org/searchtool/Search.do?query=DSG1&submit=Quick%0D%7027ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DSG1	rs16961689	0.148762	0.1079	0.1034	0.08	1	13	exonic	exonic	exonic	DSG1	DSG1	ENSG00000134760	nonsynonymous SNV	nonsynonymous SNV	unknown	DSG1:NM_001942:exon11:c.A1583C:p.Y528S,	DSG1:uc002kwp.3:exon11:c.A1583C:p.Y528S,	UNKNOWN	Het;A>C	1315;72|55	Het;A>C	1498;77|62	Hom;A>C	4266;0|151
N	N	-	18	28919911	28919911	A	G	snp	nonsynonymous SNV	A1610G	K537R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	DSG1	Dsg1b	ENSG00000134760	desmoglein 1	chr18:28898052-28936992	This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]	pemphigus foliaceus; Esophagitis; eosinophilic esophagitis (pediatric) 	 	Formation of the cornified envelope	GO:0007043;cell-cell junction assembly;NAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0031424;keratinization;TAS|GO:0032570;response to progesterone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050821;protein stabilization;IDA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0070268;cornification;TAS	GO:0001533;cornified envelope;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0015643;toxic substance binding;NAS|GO:0045295;gamma-catenin binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DSG1	https://www.uniprot.org/uniprot/Q02413	https://hpo.jax.org/app/browse/search?q=DSG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=125670	http://www.informatics.jax.org/searchtool/Search.do?query=DSG1&submit=Quick%0D%7027ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DSG1	rs61730306	0.148762	0.0011	0.1034	0.08	1	13	exonic	exonic	exonic	DSG1	DSG1	ENSG00000134760	nonsynonymous SNV	nonsynonymous SNV	unknown	DSG1:NM_001942:exon11:c.A1610G:p.K537R,	DSG1:uc002kwp.3:exon11:c.A1610G:p.K537R,	UNKNOWN	Het;A>G	2180;70|59	Het;A>G	2576;73|68	Hom;A>G	6046;0|137
N	N	-	18	28919913	28919913	G	A	snp	nonsynonymous SNV	G1612A	D538N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	DSG1	Dsg1b	ENSG00000134760	desmoglein 1	chr18:28898052-28936992	This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]	pemphigus foliaceus; Esophagitis; eosinophilic esophagitis (pediatric) 	 	Formation of the cornified envelope	GO:0007043;cell-cell junction assembly;NAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0031424;keratinization;TAS|GO:0032570;response to progesterone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050821;protein stabilization;IDA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0070268;cornification;TAS	GO:0001533;cornified envelope;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0015643;toxic substance binding;NAS|GO:0045295;gamma-catenin binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DSG1	https://www.uniprot.org/uniprot/Q02413	https://hpo.jax.org/app/browse/search?q=DSG1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=125670	http://www.informatics.jax.org/searchtool/Search.do?query=DSG1&submit=Quick%0D%7027ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DSG1	rs34302455	0.148962	0.0008	0.1033	0.08	1	13	exonic	exonic	exonic	DSG1	DSG1	ENSG00000134760	nonsynonymous SNV	nonsynonymous SNV	unknown	DSG1:NM_001942:exon11:c.G1612A:p.D538N,	DSG1:uc002kwp.3:exon11:c.G1612A:p.D538N,	UNKNOWN	Het;G>A	2180;69|57	Het;G>A	2576;73|69	Hom;G>A	6046;0|134
N	N	-	18	43307246	43307246	C	T	snp	nonsynonymous SNV	C10T	R4W	polar,hydrophilic,charged(+)	aromatic,hydrophobic,neutral	SLC14A1	Slc14a1	ENSG00000141469	solute carrier family 14 member 1 (Kidd blood group)	chr18:43304092-43332485	The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]	Urinary Bladder Neoplasms; Tobacco Use Disorder; psoriasis vulgaris; null; Hyperparathyroidism, Secondary; myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris;	Mice homozygous for disruptions in this gene display a grossly normal phenotype although they have an inability to concentrate urea in urine.	Transport of bile salts and organic acids, metal ions and amine compounds	GO:0006810;transport;IEA|GO:0006833;water transport;IEA|GO:0015840;urea transport;TAS|GO:0055085;transmembrane transport;TAS|GO:0071918;urea transmembrane transport;IDA	GO:0005730;nucleolus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005372;water transmembrane transporter activity;IEA|GO:0015204;urea transmembrane transporter activity;TAS|GO:0015265;urea channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC14A1	https://www.uniprot.org/uniprot/Q13336		https://www.ncbi.nlm.nih.gov/omim/?term=613868	http://www.informatics.jax.org/searchtool/Search.do?query=SLC14A1&submit=Quick%0D%8171ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC14A1	rs11877062	0.401957	0.4074	0.4349	0.33	4	12	exonic	exonic	exonic	SLC14A1	SLC14A1	ENSG00000141469	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC14A1:NM_001146037:exon1:c.C10T:p.R4W,SLC14A1:NM_001128588:exon3:c.C10T:p.R4W,	SLC14A1:uc010dnk.3:exon3:c.C10T:p.R4W,SLC14A1:uc002lbj.4:exon1:c.C10T:p.R4W,	UNKNOWN	Het;C>T	1286;78|59	Het;C>T	1110;84|54	Hom;C>T	3145;0|116
N	N	-	18	43319519	43319519	G	A	snp	nonsynonymous SNV	G838A	D280N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	SLC14A1	Slc14a1	ENSG00000141469	solute carrier family 14 member 1 (Kidd blood group)	chr18:43304092-43332485	The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]	Urinary Bladder Neoplasms; Tobacco Use Disorder; psoriasis vulgaris; null; Hyperparathyroidism, Secondary; myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris;	Mice homozygous for disruptions in this gene display a grossly normal phenotype although they have an inability to concentrate urea in urine.	Transport of bile salts and organic acids, metal ions and amine compounds	GO:0006810;transport;IEA|GO:0006833;water transport;IEA|GO:0015840;urea transport;TAS|GO:0055085;transmembrane transport;TAS|GO:0071918;urea transmembrane transport;IDA	GO:0005730;nucleolus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005372;water transmembrane transporter activity;IEA|GO:0015204;urea transmembrane transporter activity;TAS|GO:0015265;urea channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLC14A1	https://www.uniprot.org/uniprot/Q13336		https://www.ncbi.nlm.nih.gov/omim/?term=613868	http://www.informatics.jax.org/searchtool/Search.do?query=SLC14A1&submit=Quick%0D%8171ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC14A1	rs1058396	0.410942	0.4110	0.4695	0.15	2	13	exonic	exonic	exonic	SLC14A1	SLC14A1	ENSG00000141469	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC14A1:NM_001146037:exon7:c.G1006A:p.D336N,SLC14A1:NM_015865:exon8:c.G838A:p.D280N,SLC14A1:NM_001146036:exon9:c.G838A:p.D280N,SLC14A1:NM_001128588:exon9:c.G1006A:p.D336N,	SLC14A1:uc010xcn.2:exon9:c.G838A:p.D280N,SLC14A1:uc002lbi.4:exon6:c.G442A:p.D148N,SLC14A1:uc002lbf.4:exon8:c.G838A:p.D280N,SLC14A1:uc010xco.2:exon7:c.G523A:p.D175N,SLC14A1:uc002lbh.4:exon7:c.G514A:p.D172N,SLC14A1:uc010dnk.3:exon9:c.G1006A:p.D336N,SLC14A1:uc002lbk.4:exon6:c.G838A:p.D280N,SLC14A1:uc002lbj.4:exon7:c.G1006A:p.D336N,	UNKNOWN	Het;G>A	774;59|33	Het;G>A	670;42|30	Hom;G>A	1702;1|59
N	N	-	18	47405425	47405425	T	TGAG	indel	nonframeshift substitution	3166_3166delinsCTCA	 	 	 	MYO5B	Myo5b	ENSG00000167306	myosin VB	chr18:47349183-47721463	The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]	Tobacco Use Disorder; Diabetic Nephropathies; Forced Expiratory Volume; Diabetes Mellitus	Homozygous null mice show perinatal mortality, diarrhea, intestinal microvillus atrophy and the presence of microvillus inclusion bodies, resembling phenotype of Microvillus Inclusion Disease.	Vasopressin regulates renal water homeostasis via Aquaporins	GO:0003091;renal water homeostasis;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IMP|GO:0032439;endosome localization;IMP	GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0043234;protein complex;IDA|GO:0045179;apical cortex;IDA|GO:0055037;recycling endosome;IC|GO:0070062;extracellular exosome;IDA	GO:0000146;microfilament motor activity;TAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0017137;Rab GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MYO5B		https://hpo.jax.org/app/browse/search?q=MYO5B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606540	http://www.informatics.jax.org/searchtool/Search.do?query=MYO5B&submit=Quick%0D%11992ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO5B	rs3841750	0.404752	0.3017	0.3420	1	0	0	exonic	exonic	exonic	MYO5B	MYO5B	ENSG00000167306	nonframeshift substitution	nonframeshift substitution	unknown	MYO5B:NM_001080467:exon24:c.3166_3166delinsCTCA,	MYO5B:uc002lea.2:exon4:c.589_589delinsCTCA,MYO5B:uc002leb.2:exon24:c.3166_3166delinsCTCA,	UNKNOWN	Het;+GAG	985;51|28	Het;+GAG	1406;37|36	Hom;+GAG	2528;0|57
N	N	-	18	77728135	77728135	G	T	snp	nonsynonymous SNV	G165T	K55N	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	HSBP1L1	Hsbp1l1	ENSG00000226742	heat shock factor binding protein 1 like 1	chr18:77724561-77730822			 		GO:1903507;negative regulation of nucleic acid-templated transcription;IEA		GO:0003714;transcription corepressor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSBP1L1				http://www.informatics.jax.org/searchtool/Search.do?query=HSBP1L1&submit=Quick%0D%18710ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSBP1L1	rs2298645	0.798522	0.7681	0.8227	0.10	1	10	exonic	exonic	exonic	HSBP1L1	HSBP1L1	ENSG00000226742	nonsynonymous SNV	nonsynonymous SNV	unknown	HSBP1L1:NM_001136180:exon3:c.G165T:p.K55N,	HSBP1L1:uc002lno.4:exon3:c.G165T:p.K55N,	UNKNOWN	Het;G>T	963;70|46	Het;G>T	442;60|26	Hom;G>T	2186;0|83
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	10224526	10224526	C	T	snp	nonsynonymous SNV	C1559T	P520L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	P2RY11	 	ENSG00000244165	purinergic receptor P2Y11	chr19:10222214-10226048	The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is coupled to the stimulation of the phosphoinositide and adenylyl cyclase pathways and behaves as a selective purinoceptor. Naturally occuring read-through transcripts, resulting from intergenic splicing between this gene and an immediately upstream gene (PPAN, encoding peter pan homolog), have been found. The PPAN-P2RY11 read-through mRNA is ubiquitously expressed and encodes a fusion protein that shares identity with each individual gene product. [provided by RefSeq, Jul 2008]	Narcolepsy; myocardial infarct	 	G alpha (s) signalling events	GO:0001973;adenosine receptor signaling pathway;IEA|GO:0006952;defense response;TAS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;TAS|GO:0019722;calcium-mediated signaling;IDA|GO:0023041;neuronal signal transduction;IDA|GO:0035589;G-protein coupled purinergic nucleotide receptor signaling pathway;IEA|GO:0071318;cellular response to ATP;IDA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004872;receptor activity;TAS|GO:0004930;G-protein coupled receptor activity;IEA|GO:0030594;neurotransmitter receptor activity;IDA|GO:0045028;G-protein coupled purinergic nucleotide receptor activity;IEA|GO:0045031;ATP-activated adenosine receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/P2RY11		https://hpo.jax.org/app/browse/search?q=P2RY11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602697	http://www.informatics.jax.org/searchtool/Search.do?query=P2RY11&submit=Quick%0D%19832ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RY11	rs3745600	0.365415	0.3739	0.4194	0.18	2	11	exonic	exonic	exonic	P2RY11,PPAN-P2RY11	P2RY11,PPAN-P2RY11	ENSG00000130810,ENSG00000243207,ENSG00000244165	nonsynonymous SNV	nonsynonymous SNV	unknown	PPAN-P2RY11:NM_001198690:exon13:c.C1559T:p.P520L,	PPAN-P2RY11:uc010xla.2:exon13:c.C1559T:p.P520L,	UNKNOWN	Het;C>T	3182;98|128	Het;C>T	1925;94|85	Hom;C>T	5332;2|188
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	10229297	10229297	C	A	snp	nonsynonymous SNV	G347T	R116L	polar,hydrophilic,charged(+)	aliphatic,hydrophobic,neutral	EIF3G	Eif3g	ENSG00000130811	eukaryotic translation initiation factor 3 subunit G	chr19:10225693-10230596	This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [provided by RefSeq, Jul 2016]		 	GTP hydrolysis and joining of the 60S ribosomal subunit	GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0075525;viral translational termination-reinitiation;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EIF3G	https://www.uniprot.org/uniprot/O75821		https://www.ncbi.nlm.nih.gov/omim/?term=603913	http://www.informatics.jax.org/searchtool/Search.do?query=EIF3G&submit=Quick%0D%6449ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3G	rs11667630	0.377196	0.3838	0.4197	1	0	0	intronic	exonic	intronic	EIF3G	EIF3G	ENSG00000130811	Na	nonsynonymous SNV	Na	Na	EIF3G:uc010dxa.3:exon5:c.G347T:p.R116L,	Na	Het;C>A	480;22|21	Het;C>A	149;12|9	Hom;C>A	1064;0|39
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	10426659	10426659	A	C	snp	nonsynonymous SNV	T14G	M5R	hydrophobic,neutral	polar,hydrophilic,charged(+)	FDX1L	Fdx1l																	rs201763046	0	0	1.823e-05	0.42	5	12	exonic	exonic	exonic	FDX1L	FDX1L	ENSG00000167807,ENSG00000267673	nonsynonymous SNV	nonsynonymous SNV	unknown	FDX1L:NM_001031734:exon1:c.T23G:p.M8R,	FDX1L:uc002mny.1:exon1:c.T14G:p.M5R,	UNKNOWN	Het;A>C	1663;53|67	Het;A>C	1402;59|62	Hom;A>C	3011;0|114
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	10446568	10446568	T	C	snp	nonsynonymous SNV	A428G	D143G	polar,hydrophilic,charged(-)	aliphatic,neutral	ICAM3	 	ENSG00000076662	intercellular adhesion molecule 3	chr19:10444452-10450499	The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]	Chronic renal failure|Kidney Failure, Chronic; Hepatitis C|Remission, Spontaneous; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma; Arthritis, Rheumatoid|; Severe Acute Respiratory Syndrome; lactate dehydrogenase severe acute respiratory syndrome	Homozygous mutant mice exhibit enhanced long-term potentiation, sensorimotor gating, and reward-based learning.	CD209 (DC-SIGN) signaling	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0050776;regulation of immune response;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;TAS|GO:0005178;integrin binding;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ICAM3	https://www.uniprot.org/uniprot/P32942		https://www.ncbi.nlm.nih.gov/omim/?term=146631	http://www.informatics.jax.org/searchtool/Search.do?query=ICAM3&submit=Quick%0D%1591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ICAM3	rs2304237	0.179513	0.2018	0.2700	0.15	2	13	exonic	exonic	exonic	ICAM3	ICAM3	ENSG00000076662	nonsynonymous SNV	nonsynonymous SNV	unknown	ICAM3:NM_002162:exon3:c.A428G:p.D143G,	ICAM3:uc002mob.2:exon3:c.A428G:p.D143G,ICAM3:uc010xlf.1:exon3:c.A197G:p.D66G,ICAM3:uc010dxd.1:exon3:c.A197G:p.D66G,	UNKNOWN	Het;T>C	702;54|33	Het;T>C	1151;54|47	Hom;T>C	1512;2|57
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	10449358	10449358	T	C	snp	nonsynonymous SNV	A343G	R115G	polar,hydrophilic,charged(+)	aliphatic,neutral	ICAM3	 	ENSG00000076662	intercellular adhesion molecule 3	chr19:10444452-10450499	The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]	Chronic renal failure|Kidney Failure, Chronic; Hepatitis C|Remission, Spontaneous; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma; Arthritis, Rheumatoid|; Severe Acute Respiratory Syndrome; lactate dehydrogenase severe acute respiratory syndrome	Homozygous mutant mice exhibit enhanced long-term potentiation, sensorimotor gating, and reward-based learning.	CD209 (DC-SIGN) signaling	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0050776;regulation of immune response;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005102;receptor binding;TAS|GO:0005178;integrin binding;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ICAM3	https://www.uniprot.org/uniprot/P32942		https://www.ncbi.nlm.nih.gov/omim/?term=146631	http://www.informatics.jax.org/searchtool/Search.do?query=ICAM3&submit=Quick%0D%1591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ICAM3	rs7258015	0.178914	0.2085	0.2188	0.08	1	13	exonic	exonic	exonic	ICAM3	ICAM3	ENSG00000076662	nonsynonymous SNV	nonsynonymous SNV	unknown	ICAM3:NM_002162:exon2:c.A343G:p.R115G,	ICAM3:uc002mob.2:exon2:c.A343G:p.R115G,ICAM3:uc010xlf.1:exon2:c.A112G:p.R38G,ICAM3:uc010dxd.1:exon2:c.A112G:p.R38G,	UNKNOWN	Het;T>C	999;81|48	Het;T>C	1324;60|59	Hom;T>C	2841;0|99
N	N	-	19	1055191	1055191	G	A	snp	nonsynonymous SNV	G4046A	R1349Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	ABCA7	Abca7	ENSG00000064687	ATP binding cassette subfamily A member 7	chr19:1040102-1065571	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]	schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease; chronic obstructive pulmonary disease; drug-related genes ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; bladder cancer; lung cancer ; lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome; lung cancer	Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels.  Males exhibit a 10% reduction in kidney size.	ABC transporters in lipid homeostasis	GO:0006810;transport;IEA|GO:0006909;phagocytosis;IEA|GO:0007613;memory;ISS|GO:0010875;positive regulation of cholesterol efflux;ISS|GO:0015917;aminophospholipid transport;IEA|GO:0018149;peptide cross-linking;ISS|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034504;protein localization to nucleus;ISS|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IDA|GO:0042985;negative regulation of amyloid precursor protein biosynthetic process;ISS|GO:0045332;phospholipid translocation;IDA|GO:0050766;positive regulation of phagocytosis;ISS|GO:0055085;transmembrane transport;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:1900223;positive regulation of beta-amyloid clearance;ISS|GO:1901076;positive regulation of engulfment of apoptotic cell;ISS|GO:1902430;negative regulation of beta-amyloid formation;ISS|GO:1902995;positive regulation of phospholipid efflux;ISS	GO:0000139;Golgi membrane;IEA|GO:0001891;phagocytic cup;ISS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0031901;early endosome membrane;IEA|GO:0032587;ruffle membrane;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IDA|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA7	https://www.uniprot.org/uniprot/Q8IZY2	https://hpo.jax.org/app/browse/search?q=ABCA7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605414	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA7&submit=Quick%0D%1141ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA7	rs3745842	0.390575	0.4065	0.4433	0.25	3	12	exonic	exonic	exonic	ABCA7	ABCA7	ENSG00000064687	nonsynonymous SNV	nonsynonymous SNV	unknown	ABCA7:NM_019112:exon30:c.G4046A:p.R1349Q,	ABCA7:uc002lqw.4:exon30:c.G4046A:p.R1349Q,ABCA7:uc010dsb.1:exon24:c.G3632A:p.R1211Q,	UNKNOWN	Het;G>A	454;17|19	Ref		Hom;G>A	2262;0|80
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	10670992	10670992	C	T	snp	nonsynonymous SNV	G814A	E272K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	KRI1	Kri1	ENSG00000129347	KRI1 homolog	chr19:10663761-10676713	This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008]	Celiac Disease|; Waist Circumference	 		GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA	GO:0005730;nucleolus;IDA|GO:0030686;90S preribosome;IBA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KRI1	https://www.uniprot.org/uniprot/Q8N9T8			http://www.informatics.jax.org/searchtool/Search.do?query=KRI1&submit=Quick%0D%6241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRI1	rs3745249	0.321086	0.3819	0.4368	0.08	1	13	exonic	exonic	exonic	KRI1	KRI1	ENSG00000129347	nonsynonymous SNV	nonsynonymous SNV	unknown	KRI1:NM_023008:exon9:c.G814A:p.E272K,	KRI1:uc002moy.1:exon9:c.G814A:p.E272K,KRI1:uc002mox.1:exon8:c.G802A:p.E268K,	UNKNOWN	Het;C>T	969;48|45	Het;C>T	981;31|45	Hom;C>T	2204;2|84
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	10672493	10672493	C	T	snp	nonsynonymous SNV	G430A	G144R	aliphatic,neutral	polar,hydrophilic,charged(+)	KRI1	Kri1	ENSG00000129347	KRI1 homolog	chr19:10663761-10676713	This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008]	Celiac Disease|; Waist Circumference	 		GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA	GO:0005730;nucleolus;IDA|GO:0030686;90S preribosome;IBA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KRI1	https://www.uniprot.org/uniprot/Q8N9T8			http://www.informatics.jax.org/searchtool/Search.do?query=KRI1&submit=Quick%0D%6241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRI1	rs12984043	0.261581	0.3092	0.3376	0.15	2	13	exonic	exonic	exonic	KRI1	KRI1	ENSG00000129347	nonsynonymous SNV	nonsynonymous SNV	unknown	KRI1:NM_023008:exon5:c.G430A:p.G144R,	KRI1:uc002moy.1:exon5:c.G430A:p.G144R,KRI1:uc002mox.1:exon4:c.G418A:p.G140R,	UNKNOWN	Het;C>T	760;39|44	Het;C>T	1015;29|43	Hom;C>T	2013;0|79
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	10676681	10676681	T	C	snp	nonsynonymous SNV	A13G	T5A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	KRI1	Kri1	ENSG00000129347	KRI1 homolog	chr19:10663761-10676713	This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008]	Celiac Disease|; Waist Circumference	 		GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA	GO:0005730;nucleolus;IDA|GO:0030686;90S preribosome;IBA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KRI1	https://www.uniprot.org/uniprot/Q8N9T8			http://www.informatics.jax.org/searchtool/Search.do?query=KRI1&submit=Quick%0D%6241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRI1	rs3218222	0.604233	0.8028	0.6128	0.15	2	13	exonic	exonic	exonic	KRI1	KRI1	ENSG00000129347	nonsynonymous SNV	nonsynonymous SNV	unknown	KRI1:NM_023008:exon1:c.A13G:p.T5A,	KRI1:uc002moy.1:exon1:c.A13G:p.T5A,	UNKNOWN	Het;T>C	1460;62|66	Het;T>C	734;57|38	Hom;T>C	2789;0|100
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	11833891	11833891	G	C	snp	nonsynonymous SNV	C458G	T153R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ZNF823	 	ENSG00000197933	zinc finger protein 823	chr19:11832080-11849824		Blood Pressure	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF823				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF823&submit=Quick%0D%16758ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF823	rs117644723	0.00838658	0.0074	0.0090	0.17	2	12	exonic	exonic	exonic	ZNF823	ZNF823	ENSG00000197933	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF823:NM_001080493:exon4:c.C458G:p.T153R,ZNF823:NM_017507:exon3:c.C326G:p.T109R,	ZNF823:uc002msm.2:exon4:c.C458G:p.T153R,ZNF823:uc010dyi.1:exon3:c.C326G:p.T109R,	UNKNOWN	Het;G>C	1469;99|69	Het;G>C	1460;90|60	Hom;G>C	3769;2|135
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	11941221	11941221	T	A	snp	nonsynonymous SNV	T127A	L43I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF440	 	ENSG00000171295	zinc finger protein 440	chr19:11925099-11946016		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF440				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF440&submit=Quick%0D%12893ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF440	rs424132	0.321286	0	0.3459	0.08	1	12	exonic	exonic	exonic	ZNF440	ZNF440	ENSG00000171295	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF440:NM_152357:exon2:c.T127A:p.L43I,	ZNF440:uc002msp.1:exon2:c.T127A:p.L43I,	UNKNOWN	Het;T>A	462;8|20	Het;T>A	89;12|6	Hom;T>A	543;0|21
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	11942362	11942362	A	G	snp	nonsynonymous SNV	A371G	N124S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	ZNF440	 	ENSG00000171295	zinc finger protein 440	chr19:11925099-11946016		Tobacco Use Disorder	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF440				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF440&submit=Quick%0D%12893ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF440	rs427880	0.535942	0.5538	0.4454	0.08	1	12	exonic	exonic	exonic	ZNF440	ZNF440	ENSG00000171295	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF440:NM_152357:exon4:c.A371G:p.N124S,	ZNF440:uc002msp.1:exon4:c.A371G:p.N124S,	UNKNOWN	Het;A>G	550;7|19	Het;A>G	740;20|26	Hom;A>G	1057;0|36
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	12187151	12187151	C	G	snp	nonsynonymous SNV	C1216G	P406A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	ZNF844	 	ENSG00000223547	zinc finger protein 844	chr19:12175514-12192380			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF844				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF844&submit=Quick%0D%18483ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF844	rs146604057	0.0113818	0.0096	0.0147	0.00	0	12	exonic	exonic	exonic	ZNF844	ZNF844	ENSG00000223547	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF844:NM_001136501:exon4:c.C1216G:p.P406A,	ZNF844:uc002mtb.2:exon4:c.C1216G:p.P406A,ZNF844:uc010dym.1:exon3:c.C745G:p.P249A,	UNKNOWN	Het;C>G	546;7|18	Het;C>G	100;11|5	Hom;C>G	695;0|18
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	12541214	12541214	G	T	snp	nonsynonymous SNV	C1772A	P591Q	hydrophobic,neutral	polar,hydrophilic,neutral	ZNF443	Zfp709	ENSG00000180855	zinc finger protein 443	chr19:12540521-12551926	Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002]		 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF443			https://www.ncbi.nlm.nih.gov/omim/?term=606697	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443	rs7256321	0.391174	0.3392	0.3211	0.08	1	12	exonic	exonic	exonic	ZNF443	ZNF443	ENSG00000180855	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF443:NM_005815:exon4:c.C1772A:p.P591Q,	ZNF443:uc002mtu.3:exon4:c.C1772A:p.P591Q,	UNKNOWN	Het;G>T	724;47|38	Het;G>T	911;55|43	Hom;G>T	2529;0|96
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	12541542	12541542	C	T	snp	nonsynonymous SNV	G1444A	G482R	aliphatic,neutral	polar,hydrophilic,charged(+)	ZNF443	Zfp709	ENSG00000180855	zinc finger protein 443	chr19:12540521-12551926	Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002]		 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF443			https://www.ncbi.nlm.nih.gov/omim/?term=606697	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443	rs34507016	0.390974	0.2728	0.2692	0.58	7	12	exonic	exonic	exonic	ZNF443	ZNF443	ENSG00000180855	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF443:NM_005815:exon4:c.G1444A:p.G482R,	ZNF443:uc002mtu.3:exon4:c.G1444A:p.G482R,	UNKNOWN	Het;C>T	108;7|2	Ref		Hom;C>T	467;0|11
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	12541544	12541544	A	C	snp	nonsynonymous SNV	T1442G	L481R	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	ZNF443	Zfp709	ENSG00000180855	zinc finger protein 443	chr19:12540521-12551926	Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002]		 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF443			https://www.ncbi.nlm.nih.gov/omim/?term=606697	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443	rs35055629	0.391174	0.2748	0.2896	0.08	1	12	exonic	exonic	exonic	ZNF443	ZNF443	ENSG00000180855	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF443:NM_005815:exon4:c.T1442G:p.L481R,	ZNF443:uc002mtu.3:exon4:c.T1442G:p.L481R,	UNKNOWN	Het;A>C	35;7|2	Ref		Hom;A>C	467;0|11
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	12542653	12542653	T	G	snp	nonsynonymous SNV	A333C	K111N	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	ZNF443	Zfp709	ENSG00000180855	zinc finger protein 443	chr19:12540521-12551926	Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002]		 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF443			https://www.ncbi.nlm.nih.gov/omim/?term=606697	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443	rs4239550	0.390176	0.3368	0.3209	0.08	1	12	exonic	exonic	exonic	ZNF443	ZNF443	ENSG00000180855	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF443:NM_005815:exon4:c.A333C:p.K111N,	ZNF443:uc002mtu.3:exon4:c.A333C:p.K111N,	UNKNOWN	Het;T>G	2053;62|54	Het;T>G	3475;80|91	Hom;T>G	7380;0|167
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	12542654	12542654	T	A	snp	nonsynonymous SNV	A332T	K111I	polar,hydrophilic,charged(+)	aliphatic,hydrophobic,neutral	ZNF443	Zfp709	ENSG00000180855	zinc finger protein 443	chr19:12540521-12551926	Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002]		 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF443			https://www.ncbi.nlm.nih.gov/omim/?term=606697	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443	rs28599549	0.390176	0.3365	0.3208	0.08	1	12	exonic	exonic	exonic	ZNF443	ZNF443	ENSG00000180855	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF443:NM_005815:exon4:c.A332T:p.K111I,	ZNF443:uc002mtu.3:exon4:c.A332T:p.K111I,	UNKNOWN	Het;T>A	2053;62|54	Het;T>A	3475;78|89	Hom;T>A	7380;0|164
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	12543251	12543251	A	C	snp	nonsynonymous SNV	T131G	V44G	aliphatic,hydrophobic,neutral	aliphatic,neutral	ZNF443	Zfp709	ENSG00000180855	zinc finger protein 443	chr19:12540521-12551926	Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002]		 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF443			https://www.ncbi.nlm.nih.gov/omim/?term=606697	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443	rs62114866	0	0	0.2127	0.00	0	12	exonic	exonic	exonic	ZNF443	ZNF443	ENSG00000180855	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF443:NM_005815:exon3:c.T131G:p.V44G,	ZNF443:uc002mtu.3:exon3:c.T131G:p.V44G,	UNKNOWN	Het;A>C	644;51|27	Het;A>C	488;77|28	Hom;A>C	1588;1|50
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	14040896	14040896	G	A	snp	nonsynonymous SNV	G2716A	A906T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	CC2D1A	Cc2d1a	ENSG00000132024	coiled-coil and C2 domain containing 1A	chr19:14017014-14041692	This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009]	Macular Degeneration	Mice homozygous for a knock-out allele exhibit partial neonatal lethality, reduced body weight, hunched posture, respiratory distress, increased sensitivity of neurons to hydrogen peroxide, reduced dendrite length, abnormal brain vasculature and reduced synaptic number and density.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0004871;signal transducer activity;IMP|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CC2D1A	https://www.uniprot.org/uniprot/Q6P1N0	https://hpo.jax.org/app/browse/search?q=CC2D1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610055	http://www.informatics.jax.org/searchtool/Search.do?query=CC2D1A&submit=Quick%0D%6621ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CC2D1A	rs11669628	0.133187	0.0959	0.1385	0.08	1	13	exonic	exonic	exonic	CC2D1A	CC2D1A	ENSG00000132024	nonsynonymous SNV	nonsynonymous SNV	unknown	CC2D1A:NM_017721:exon27:c.G2716A:p.A906T,	CC2D1A:uc002mxo.2:exon27:c.G2716A:p.A906T,CC2D1A:uc010dzh.2:exon22:c.G1423A:p.A475T,CC2D1A:uc002mxp.2:exon27:c.G2713A:p.A905T,	UNKNOWN	Het;G>A	619;32|27	Het;G>A	963;18|39	Hom;G>A	1575;0|59
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	14153293	14153293	T	C	snp	nonsynonymous SNV	T563C	L188P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	IL27RA	Il27ra	ENSG00000104998	interleukin 27 receptor subunit alpha	chr19:14142560-14163743	In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their receptors, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protein which is similar to the mouse T-cell cytokine receptor Tccr at the amino acid level, and is predicted to be a glycosylated transmembrane protein. [provided by RefSeq, Jul 2008]	Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	T helper 1 response and responses to parasitic and bacterial infection are altered in homozygous mutant mice.	Interleukin-12 family signaling	GO:0002827;positive regulation of T-helper 1 type immune response;IEA|GO:0002829;negative regulation of type 2 immune response;IEA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IEA|GO:0048302;regulation of isotype switching to IgG isotypes;IEA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0070106;interleukin-27-mediated signaling pathway;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004888;transmembrane signaling receptor activity;TAS|GO:0045509;interleukin-27 receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IL27RA	https://www.uniprot.org/uniprot/Q6UWB1		https://www.ncbi.nlm.nih.gov/omim/?term=605350	http://www.informatics.jax.org/searchtool/Search.do?query=IL27RA&submit=Quick%0D%3224ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IL27RA	rs35026308	0.141773	0.1382	0.1625	0.23	3	13	exonic	exonic	exonic	IL27RA	IL27RA	ENSG00000104998	nonsynonymous SNV	nonsynonymous SNV	unknown	IL27RA:NM_004843:exon5:c.T563C:p.L188P,	IL27RA:uc002mxx.4:exon5:c.T563C:p.L188P,	UNKNOWN	Het;T>C	2537;135|123	Het;T>C	2061;110|101	Hom;T>C	5920;0|225
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	14862430	14862430	C	G	snp	nonsynonymous SNV	G1842C	L614F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	EMR2																		rs2524383	0.816494	0.7703	0.7371	0.17	2	12	exonic	exonic	exonic	ADGRE2	EMR2	ENSG00000127507	nonsynonymous SNV	nonsynonymous SNV	unknown	ADGRE2:NM_013447:exon16:c.G1842C:p.L614F,ADGRE2:NM_001271052:exon14:c.G1668C:p.L556F,	EMR2:uc002mzp.2:exon16:c.G1842C:p.L614F,EMR2:uc031rjt.1:exon15:c.G1842C:p.L614F,EMR2:uc031rju.1:exon15:c.G1809C:p.L603F,EMR2:uc010xnw.2:exon14:c.G1668C:p.L556F,EMR2:uc010dzs.2:exon6:c.G219C:p.L73F,EMR2:uc010xnx.2:exon10:c.G273C:p.L91F,EMR2:uc031rjs.1:exon10:c.G1026C:p.L342F,	UNKNOWN	Het;C>G	2524;123|102	Het;C>G	1891;107|78	Hom;C>G	5307;0|197
N	N	-	19	1495634	1495634	G	A	snp	nonsynonymous SNV	G376A	V126M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	REEP6	Reep6	ENSG00000115255	receptor accessory protein 6	chr19:1491165-1497926		Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease 	Homozygous null mice exhibit photoreceptor degenaration and dysfunction, with an expansion of the distal endoplasmic reticulum and increased mitochondria number in rods.	Olfactory Signaling Pathway	GO:0008150;biological_process;ND|GO:0032386;regulation of intracellular transport;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP	GO:0001917;photoreceptor inner segment;IDA|GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044317;rod spherule;IEA|GO:0045177;apical part of cell;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/REEP6	https://www.uniprot.org/uniprot/Q96HR9	https://hpo.jax.org/app/browse/search?q=REEP6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609346	http://www.informatics.jax.org/searchtool/Search.do?query=REEP6&submit=Quick%0D%4566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=REEP6	rs2277748	0.416534	0.3837	0.3617	1	0	0	intronic	exonic	intronic	REEP6	REEP6	ENSG00000115255	Na	nonsynonymous SNV	Na	Na	REEP6:uc010xgp.2:exon3:c.G376A:p.V126M,	Na	Het;G>A	1380;93|65	Ref		Hom;G>A	3155;0|120
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	14991507	14991507	T	C	snp	nonsynonymous SNV	A661G	I221V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	OR7A17	Olfr19	ENSG00000185385	olfactory receptor family 7 subfamily A member 17	chr19:14991138-14992264	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR7A17				http://www.informatics.jax.org/searchtool/Search.do?query=OR7A17&submit=Quick%0D%15408ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7A17	rs112660270	0.000399361	0.0003	0.0007	0.50	6	12	exonic	exonic	exonic	OR7A17	OR7A17	ENSG00000185385	nonsynonymous SNV	nonsynonymous SNV	unknown	OR7A17:NM_030901:exon1:c.A661G:p.I221V,	OR7A17:uc010xob.2:exon1:c.A661G:p.I221V,	UNKNOWN	Het;T>C	92;8|4	Het;T>C	292;8|9	Hom;T>C	177;0|5
N	N	-	19	16025176	16025176	C	T	snp	nonsynonymous SNV	G1336A	D446N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	CYP4F11	Cyp4f40	ENSG00000171903	cytochrome P450 family 4 subfamily F member 11	chr19:16023177-16045677	This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; lung cancer; Tobacco Use Disorder	 	Synthesis of Leukotrienes (LT) and Eoxins (EX)	GO:0006954;inflammatory response;TAS|GO:0007596;blood coagulation;TAS|GO:0042361;menaquinone catabolic process;IDA|GO:0042376;phylloquinone catabolic process;IDA|GO:0042377;vitamin K catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;IDA|GO:0020037;heme binding;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP4F11			https://www.ncbi.nlm.nih.gov/omim/?term=611517	http://www.informatics.jax.org/searchtool/Search.do?query=CYP4F11&submit=Quick%0D%13041ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4F11	rs1060463	0.5	0.5523	0.5672	0.17	2	12	exonic	exonic	exonic	CYP4F11	CYP4F11	ENSG00000171903	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP4F11:NM_001128932:exon12:c.G1336A:p.D446N,CYP4F11:NM_021187:exon11:c.G1336A:p.D446N,	CYP4F11:uc002nbu.2:exon12:c.G1336A:p.D446N,CYP4F11:uc002nbt.2:exon11:c.G1336A:p.D446N,CYP4F11:uc010eab.1:exon10:c.G1271A:p.R424Q,	UNKNOWN	Het;C>T	761;19|36	Het;C>T	473;34|22	Hom;C>T	1349;0|54
N	N	-	19	17650229	17650229	C	A	snp	nonsynonymous SNV	C56A	A19E	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(-)	FAM129C	Fam129c	ENSG00000167483	family with sequence similarity 129 member C	chr19:17634110-17664648			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM129C			https://www.ncbi.nlm.nih.gov/omim/?term=609967	http://www.informatics.jax.org/searchtool/Search.do?query=FAM129C&submit=Quick%0D%12020ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM129C	rs114207587	0.0605032	0	0.1154	0.00	0	13	exonic	exonic	exonic	FAM129C	FAM129C	ENSG00000167483	nonsynonymous SNV	nonsynonymous SNV	unknown	FAM129C:NM_173544:exon8:c.C878A:p.A293E,FAM129C:NM_001098524:exon8:c.C878A:p.A293E,	FAM129C:uc010xpu.2:exon2:c.C56A:p.A19E,FAM129C:uc010eaw.3:exon2:c.C56A:p.A19E,FAM129C:uc021uqj.1:exon8:c.C878A:p.A293E,FAM129C:uc021uqi.1:exon8:c.C878A:p.A293E,FAM129C:uc002ngy.4:exon2:c.C56A:p.A19E,	UNKNOWN	Het;C>A	798;29|34	Het;C>A	336;9|14	Hom;C>A	1029;0|35
N	N	-	19	17662616	17662616	G	A	snp	nonsynonymous SNV	G959A	R320Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	FAM129C	Fam129c	ENSG00000167483	family with sequence similarity 129 member C	chr19:17634110-17664648			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM129C			https://www.ncbi.nlm.nih.gov/omim/?term=609967	http://www.informatics.jax.org/searchtool/Search.do?query=FAM129C&submit=Quick%0D%12020ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM129C	rs76629753	0.0615016	0.0583	0.0531	0.09	1	11	exonic	exonic	exonic	FAM129C	FAM129C	ENSG00000167483	nonsynonymous SNV	nonsynonymous SNV	unknown	FAM129C:NM_001098524:exon16:c.G1865A:p.R622Q,	FAM129C:uc010xpu.2:exon9:c.G959A:p.R320Q,FAM129C:uc010eaw.3:exon9:c.G935A:p.R312Q,FAM129C:uc021uqi.1:exon16:c.G1865A:p.R622Q,	UNKNOWN	Het;G>A	1490;88|73	Het;G>A	993;65|51	Hom;G>A	3851;4|153
N	N	-	19	23159486	23159486	T	C	snp	nonsynonymous SNV	A653G	Y218C	aromatic,polar,hydrophobic	polar,hydrophobic,neutral	ZNF728	Zfp595	ENSG00000269067	zinc finger protein 728	chr19:23158270-23185978			 		GO:0006355;regulation of transcription, DNA-templated;IBA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF728				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF728&submit=Quick%0D%20743ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF728	rs289318	0.259585	0	0.2154	0.00	0	4	exonic	exonic	exonic	ZNF728	ZNF728	ENSG00000269067	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF728:NM_001267716:exon4:c.A653G:p.Y218C,	ZNF728:uc002nqz.2:exon4:c.A653G:p.Y218C,ZNF728:uc002nqy.2:exon3:c.A104G:p.Y35C,	UNKNOWN	Het;T>C	62;5|3	Het;T>C	188;1|6	Hom;T>C	363;0|10
N	N	-	19	2389872	2389872	G	C	snp	nonsynonymous SNV	G89C	S30T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	TMPRSS9	Tmprss9	ENSG00000178297	transmembrane protease, serine 9	chr19:2389769-2426237	The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016]	Tobacco Use Disorder	 		GO:0006508;proteolysis;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS9			https://www.ncbi.nlm.nih.gov/omim/?term=610477	http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS9&submit=Quick%0D%14166ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS9	rs891174	0.583466	0.6491	0.6218	0.15	2	13	exonic	exonic	exonic	TMPRSS9	TMPRSS9	ENSG00000178297	nonsynonymous SNV	nonsynonymous SNV	unknown	TMPRSS9:NM_182973:exon1:c.G89C:p.S30T,	TMPRSS9:uc002lvv.1:exon1:c.G89C:p.S30T,TMPRSS9:uc010xgx.2:exon1:c.G89C:p.S30T,	UNKNOWN	Het;G>C	2135;125|100	Het;G>C	1619;78|78	Hom;G>C	5422;0|203
N	N	-	19	33600764	33600764	T	C	snp	nonsynonymous SNV	T1427C	L476P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	GPATCH1	Gpatch1	ENSG00000076650	G-patch domain containing 1	chr19:33571786-33621448		Tobacco Use Disorder	 		GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA	GO:0071013;catalytic step 2 spliceosome;IDA	GO:0003676;nucleic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1	https://www.uniprot.org/uniprot/Q9BRR8			http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1	rs2287679	0.533546	0.4229	0.3712	0.15	2	13	exonic	exonic	exonic	GPATCH1	GPATCH1	ENSG00000076650	nonsynonymous SNV	nonsynonymous SNV	unknown	GPATCH1:NM_018025:exon11:c.T1427C:p.L476P,	GPATCH1:uc002nug.1:exon11:c.T1427C:p.L476P,	UNKNOWN	Het;T>C	1725;68|75	Het;T>C	1161;59|55	Hom;T>C	3257;0|117
N	N	-	19	33605300	33605300	A	G	snp	nonsynonymous SNV	A302G	H101R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	GPATCH1	Gpatch1	ENSG00000076650	G-patch domain containing 1	chr19:33571786-33621448		Tobacco Use Disorder	 		GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA	GO:0071013;catalytic step 2 spliceosome;IDA	GO:0003676;nucleic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1	https://www.uniprot.org/uniprot/Q9BRR8			http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1	rs10416265	0.592452	0.4077	0.4063	0.08	1	13	exonic	exonic	exonic	GPATCH1	GPATCH1	ENSG00000076650	nonsynonymous SNV	nonsynonymous SNV	unknown	GPATCH1:NM_018025:exon15:c.A2171G:p.H724R,	GPATCH1:uc002nuh.1:exon2:c.A302G:p.H101R,GPATCH1:uc002nug.1:exon15:c.A2171G:p.H724R,	UNKNOWN	Het;A>G	1005;45|45	Het;A>G	640;41|30	Hom;A>G	1247;0|48
N	N	-	19	33605312	33605312	T	C	snp	nonsynonymous SNV	T314C	L105S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	GPATCH1	Gpatch1	ENSG00000076650	G-patch domain containing 1	chr19:33571786-33621448		Tobacco Use Disorder	 		GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA	GO:0071013;catalytic step 2 spliceosome;IDA	GO:0003676;nucleic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1	https://www.uniprot.org/uniprot/Q9BRR8			http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1	rs10421769	0.770168	0.5361	0.5403	0.23	3	13	exonic	exonic	exonic	GPATCH1	GPATCH1	ENSG00000076650	nonsynonymous SNV	nonsynonymous SNV	unknown	GPATCH1:NM_018025:exon15:c.T2183C:p.L728S,	GPATCH1:uc002nuh.1:exon2:c.T314C:p.L105S,GPATCH1:uc002nug.1:exon15:c.T2183C:p.L728S,	UNKNOWN	Het;T>C	1002;36|42	Het;T>C	654;38|28	Hom;T>C	1154;0|43
N	N	-	19	35843086	35843086	G	A	snp	nonsynonymous SNV	G632A	R211H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	FFAR1	Ffar1	ENSG00000126266	free fatty acid receptor 1	chr19:35842445-35843367	This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for medium and long chain free fatty acids and may be involved in the metabolic regulation of insulin secretion. Polymorphisms in this gene may be associated with type 2 diabetes. [provided by RefSeq, Apr 2009]	insulin; diabetes, type 2; glucose tolerance; insulin; Obesity; Type 2 Diabetes| edema | rosiglitazone; Diabetes Mellitus, Type 2	There are conflicting reports on the metabolic affects of disrupting this gene.  Glucose metabolism  lipid levels have been studied.	Free fatty acid receptors	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0030073;insulin secretion;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0070542;response to fatty acid;IDA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0008289;lipid binding;IEA|GO:0045125;bioactive lipid receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FFAR1	https://www.uniprot.org/uniprot/O14842		https://www.ncbi.nlm.nih.gov/omim/?term=603820	http://www.informatics.jax.org/searchtool/Search.do?query=FFAR1&submit=Quick%0D%5930ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FFAR1	rs2301151	0.879593	0.8372	0.8263	0.08	1	13	exonic	exonic	exonic	FFAR1	FFAR1	ENSG00000126266	nonsynonymous SNV	nonsynonymous SNV	unknown	FFAR1:NM_005303:exon1:c.G632A:p.R211H,	FFAR1:uc002nzc.2:exon1:c.G632A:p.R211H,	UNKNOWN	Het;G>A	1846;90|79	Het;G>A	1593;62|66	Hom;G>A	3768;0|133
N	N	-	19	36270052	36270052	A	G	snp	nonsynonymous SNV	A581G	D194G	polar,hydrophilic,charged(-)	aliphatic,neutral	ARHGAP33	Arhgap33	ENSG00000004777	Rho GTPase activating protein 33	chr19:36265434-36279724	This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]	plasma HDL cholesterol (HDL-C) levels	Mice homozygous for a null mutation display region specific thinning of the cerebral cortex with reduced dendritic complexity.	Rho GTPase cycle	GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IBA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IBA|GO:0015629;actin cytoskeleton;IBA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0035091;phosphatidylinositol binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP33	https://www.uniprot.org/uniprot/O14559		https://www.ncbi.nlm.nih.gov/omim/?term=614902	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP33&submit=Quick%0D%325ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP33	rs231231	0.577676	0.4443	0.4471	1	0	0	intronic	exonic	intronic	ARHGAP33	ARHGAP33	ENSG00000004777	Na	nonsynonymous SNV	Na	Na	ARHGAP33:uc010eek.2:exon5:c.A581G:p.D194G,	Na	Het;A>G	1115;60|49	Het;A>G	955;48|42	Hom;A>G	3110;0|110
N	N	-	19	36322601	36322601	T	C	snp	nonsynonymous SNV	A3230G	N1077S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	NPHS1	Nphs1	ENSG00000161270	NPHS1, nephrin	chr19:36316866-36360189	This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]	Glomerulonephritis, IGA; Hyperparathyroidism, Secondary; Chronic renal failure|Kidney Failure, Chronic|Nephrotic Syndrome; Nephrotic Syndrome; amyotrophic lateral sclerosis.; congenital nephrosis; AIDS-Associated Nephropathy|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; Type 2 Diabetes| edema | rosiglitazone; hypertension; Diabetes Mellitus, Type 2|Diabetic Nephropathies|; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Nephropathies; Ig A nephropathy; nephrotic syndrome; nephropathy; Kidney Diseases; nephropathy in other diseases; minimal change nephrotic syndrome; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous|Haematuria|Hematuria|Proteinuria	Homozygotes for a targeted null mutation exhibit severe proteinuria associated with kidney defects and die soon after birth. Heterozygotes exhibit fusion of one-third of glomerular foot processes.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0000165;MAPK cascade;IEA|GO:0007155;cell adhesion;TAS|GO:0007254;JNK cascade;IEA|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;IEA|GO:0007519;skeletal muscle tissue development;IEA|GO:0007520;myoblast fusion;IEA|GO:0007588;excretion;TAS|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0032836;glomerular basement membrane development;IEP|GO:0035418;protein localization to synapse;IGI|GO:0044062;regulation of excretion;IEA|GO:0072015;glomerular visceral epithelial cell development;IEP	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0036057;slit diaphragm;ISS|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0017022;myosin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NPHS1		https://hpo.jax.org/app/browse/search?q=NPHS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602716	http://www.informatics.jax.org/searchtool/Search.do?query=NPHS1&submit=Quick%0D%10570ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPHS1	rs4806213	0.0924521	0.1060	0.1381	0.15	2	13	exonic	exonic	exonic	NPHS1	NPHS1	ENSG00000161270	nonsynonymous SNV	nonsynonymous SNV	unknown	NPHS1:NM_004646:exon24:c.A3230G:p.N1077S,	NPHS1:uc002oby.3:exon24:c.A3230G:p.N1077S,	UNKNOWN	Het;T>C	1374;69|69	Het;T>C	1531;99|77	Hom;T>C	5121;1|191
N	N	-	19	38377409	38377409	A	T	snp	nonsynonymous SNV	T6785A	V2262E	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(-)	WDR87	 	ENSG00000171804	WD repeat domain 87	chr19:38375463-38397317			 					http://www.genecards.org/index.php?path=/Search/keyword/WDR87				http://www.informatics.jax.org/searchtool/Search.do?query=WDR87&submit=Quick%0D%13012ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR87	rs7252765	1	0	0.9463	1	0	0	exonic	exonic	exonic	WDR87	WDR87	ENSG00000171804	nonsynonymous SNV	nonsynonymous SNV	unknown	WDR87:NM_031951:exon6:c.T6785A:p.V2262E,WDR87:NM_001291088:exon6:c.T6902A:p.V2301E,	WDR87:uc010efu.2:exon6:c.T6785A:p.V2262E,WDR87:uc002ohj.2:exon6:c.T6902A:p.V2301E,	UNKNOWN	Het;A>T	477;17|18	Het;A>T	345;24|16	Hom;A>T	921;0|33
N	N	-	19	39322087	39322087	T	G	snp	nonsynonymous SNV	A122C	E41A	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	ECH1	Ech1	ENSG00000282853	enoyl-CoA hydratase 1	chr19:39306062-39322645	This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;IEA|GO:0008152;metabolic process;IEA	GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ECH1	https://www.uniprot.org/uniprot/Q13011		https://www.ncbi.nlm.nih.gov/omim/?term=600696	http://www.informatics.jax.org/searchtool/Search.do?query=ECH1&submit=Quick%0D%22634ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ECH1	rs9419	0.365016	0.4509	0.4727	0.08	1	12	exonic	exonic	exonic	ECH1	ECH1,HNRNPL	ENSG00000104823,ENSG00000268083	nonsynonymous SNV	nonsynonymous SNV	unknown	ECH1:NM_001398:exon2:c.A122C:p.E41A,	ECH1:uc010xuk.1:exon2:c.A122C:p.E41A,ECH1:uc002oji.3:exon2:c.A122C:p.E41A,HNRNPL:uc002ojj.1:exon6:c.A749C:p.E250A,	UNKNOWN	Het;T>G	1689;59|71	Het;T>G	1321;60|58	Hom;T>G	3366;0|119
N	N	-	19	39914748	39914748	G	A	snp	nonsynonymous SNV	G2309A	R770K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	PLEKHG2	Plekhg2	ENSG00000090924	pleckstrin homology and RhoGEF domain containing G2	chr19:39903225-39919054		coronary spastic angina	 	G alpha (12/13) signalling events	GO:0030833;regulation of actin filament polymerization;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG2	https://www.uniprot.org/uniprot/Q9H7P9	https://hpo.jax.org/app/browse/search?q=PLEKHG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611893	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG2&submit=Quick%0D%2124ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG2	rs31726	0.575879	0.5226	0.5083	0.08	1	13	exonic	exonic	exonic	PLEKHG2	PLEKHG2	ENSG00000090924	nonsynonymous SNV	nonsynonymous SNV	unknown	PLEKHG2:NM_022835:exon19:c.G2975A:p.R992K,	PLEKHG2:uc010xva.2:exon15:c.G2309A:p.R770K,PLEKHG2:uc010xuy.2:exon19:c.G2798A:p.R933K,PLEKHG2:uc010xuz.2:exon19:c.G2975A:p.R992K,	UNKNOWN	Het;G>A	2789;119|121	Het;G>A	1524;61|62	Hom;G>A	4610;0|163
N	N	-	19	39915758	39915758	C	G	snp	nonsynonymous SNV	C3319G	P1107A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	PLEKHG2	Plekhg2	ENSG00000090924	pleckstrin homology and RhoGEF domain containing G2	chr19:39903225-39919054		coronary spastic angina	 	G alpha (12/13) signalling events	GO:0030833;regulation of actin filament polymerization;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG2	https://www.uniprot.org/uniprot/Q9H7P9	https://hpo.jax.org/app/browse/search?q=PLEKHG2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611893	http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG2&submit=Quick%0D%2124ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG2	rs31728	0.592252	0.5783	0.5527	0.60	6	10	exonic	exonic	exonic	PLEKHG2	PLEKHG2	ENSG00000090924	nonsynonymous SNV	nonsynonymous SNV	unknown	PLEKHG2:NM_022835:exon19:c.C3985G:p.P1329A,	PLEKHG2:uc010xva.2:exon15:c.C3319G:p.P1107A,PLEKHG2:uc010xuz.2:exon19:c.C3985G:p.P1329A,	UNKNOWN	Het;C>G	845;36|34	Het;C>G	435;18|17	Hom;C>G	1075;0|35
N	N	-	19	39994711	39994711	T	C	snp	nonsynonymous SNV	T653C	L218P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	DLL3	Dll3	ENSG00000090932	delta like canonical Notch ligand 3	chr19:39989535-39999121	This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Axial skeletal defects	Mice homozygous for a knock-out allele exhibit postnatal lethality, a shortened body and tail, delayed and abnormal somite formation, a kinked neural tube, disorganized PNS elements, and severe axial skeletal dysplasia, including disorganized vertebrae and ribs defects.		GO:0001501;skeletal system development;IMP|GO:0001756;somitogenesis;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007386;compartment pattern specification;IEA|GO:0009888;tissue development;IEA|GO:0030154;cell differentiation;IEA|GO:0048339;paraxial mesoderm development;IEA|GO:0050768;negative regulation of neurogenesis;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005112;Notch binding;NAS|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DLL3	https://www.uniprot.org/uniprot/Q9NYJ7	https://hpo.jax.org/app/browse/search?q=DLL3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602768	http://www.informatics.jax.org/searchtool/Search.do?query=DLL3&submit=Quick%0D%2125ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DLL3	rs1110627	0.629992	0.5901	0.5686	0.15	2	13	exonic	exonic	exonic	DLL3	DLL3	ENSG00000090932	nonsynonymous SNV	nonsynonymous SNV	unknown	DLL3:NM_016941:exon5:c.T653C:p.L218P,DLL3:NM_203486:exon5:c.T653C:p.L218P,	DLL3:uc002olw.2:exon5:c.T653C:p.L218P,DLL3:uc010egq.3:exon5:c.T653C:p.L218P,DLL3:uc002olx.2:exon5:c.T653C:p.L218P,	UNKNOWN	Het;T>C	1352;67|58	Het;T>C	871;56|41	Hom;T>C	2150;0|81
N	N	-	19	40030704	40030704	C	T	snp	nonsynonymous SNV	G16A	A6T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	EID2	Eid2	ENSG00000176396	EP300 interacting inhibitor of differentiation 2	chr19:40028890-40030870			 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007181;transforming growth factor beta receptor complex assembly;IDA|GO:0007183;SMAD protein complex assembly;IDA|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;IEA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0030154;cell differentiation;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0042127;regulation of cell proliferation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA	GO:0005622;intracellular;IC|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA	GO:0005515;protein binding;IPI|GO:0046332;SMAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/EID2			https://www.ncbi.nlm.nih.gov/omim/?term=609773	http://www.informatics.jax.org/searchtool/Search.do?query=EID2&submit=Quick%0D%13850ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EID2	rs7252027	0.198682	0.1658	0.2465	0.33	4	12	exonic	exonic	exonic	EID2	EID2	ENSG00000176396	nonsynonymous SNV	nonsynonymous SNV	unknown	EID2:NM_153232:exon1:c.G16A:p.A6T,	EID2:uc002oma.3:exon1:c.G16A:p.A6T,	UNKNOWN	Het;C>T	1007;44|51	Het;C>T	1157;40|53	Hom;C>T	2265;0|85
N	N	-	19	40174236	40174236	G	A	snp	nonsynonymous SNV	G320A	R107K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	LGALS17A																		rs7258833	0.638778	0.7113	0	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	LGALS17A	LGALS17A	ENSG00000226025	Na	nonsynonymous SNV	Na	Na	LGALS17A:uc021uuo.2:exon3:c.G320A:p.R107K,	Na	Het;G>A	1910;101|90	Het;G>A	1823;119|89	Hom;G>A	4442;0|161
N	N	-	19	40197924	40197924	T	C	snp	nonsynonymous SNV	T199C	C67R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	LGALS14		ENSG00000006659	galectin 14	chr19:40194946-40200084	This gene is predominantly expressed in placenta. The encoded protein belongs to the galectin (galaptin/S-lectin) family. The members of galectin family contain one or two carbohydrate recognition domains, which can bind beta-galactoside. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]	Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction			GO:0006915;apoptotic process;IEA|GO:0070234;positive regulation of T cell apoptotic process;IEA	GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LGALS14	https://www.uniprot.org/uniprot/Q8TCE9		https://www.ncbi.nlm.nih.gov/omim/?term=607260	http://www.informatics.jax.org/searchtool/Search.do?query=LGALS14&submit=Quick%0D%414ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LGALS14	rs4830	0.637181	0.7118	0.6421	0.08	1	12	exonic	exonic	exonic	LGALS14	LGALS14	ENSG00000006659	nonsynonymous SNV	nonsynonymous SNV	unknown	LGALS14:NM_020129:exon3:c.T199C:p.C67R,LGALS14:NM_203471:exon4:c.T286C:p.C96R,	LGALS14:uc002omg.3:exon3:c.T199C:p.C67R,LGALS14:uc002omf.3:exon4:c.T286C:p.C96R,	UNKNOWN	Het;T>C	1719;98|81	Het;T>C	1438;84|72	Hom;T>C	3638;0|135
N	N	-	19	40199914	40199914	C	G	snp	nonsynonymous SNV	C381G	F127L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LGALS14		ENSG00000006659	galectin 14	chr19:40194946-40200084	This gene is predominantly expressed in placenta. The encoded protein belongs to the galectin (galaptin/S-lectin) family. The members of galectin family contain one or two carbohydrate recognition domains, which can bind beta-galactoside. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]	Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction			GO:0006915;apoptotic process;IEA|GO:0070234;positive regulation of T cell apoptotic process;IEA	GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LGALS14	https://www.uniprot.org/uniprot/Q8TCE9		https://www.ncbi.nlm.nih.gov/omim/?term=607260	http://www.informatics.jax.org/searchtool/Search.do?query=LGALS14&submit=Quick%0D%414ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LGALS14	rs10755	0.633786	0.7103	0.6416	0.08	1	12	exonic	exonic	exonic	LGALS14	LGALS14	ENSG00000006659	nonsynonymous SNV	nonsynonymous SNV	unknown	LGALS14:NM_020129:exon4:c.C381G:p.F127L,LGALS14:NM_203471:exon5:c.C468G:p.F156L,	LGALS14:uc002omg.3:exon4:c.C381G:p.F127L,LGALS14:uc002omf.3:exon5:c.C468G:p.F156L,	UNKNOWN	Het;C>G	344;17|17	Het;C>G	414;9|19	Hom;C>G	1133;0|45
N	N	-	19	40225646	40225646	G	A	snp	nonsynonymous SNV	C83T	A28V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CLC		ENSG00000105205	Charcot-Leyden crystal galectin	chr19:40221890-40228668	Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008]	allergic rhinitis	Mice homozygous for a knock-out allele exhibit postnatal lethality associated with a failure to suckle and decreased facial and spinal motor neurons.		GO:0002667;regulation of T cell anergy;IMP|GO:0002724;regulation of T cell cytokine production;IMP|GO:0007275;multicellular organism development;TAS|GO:0046006;regulation of activated T cell proliferation;IMP|GO:0070231;T cell apoptotic process;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:0042802;identical protein binding;IPI|GO:0097153;cysteine-type endopeptidase activity involved in apoptotic process;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CLC	https://www.uniprot.org/uniprot/Q05315		https://www.ncbi.nlm.nih.gov/omim/?term=153310	http://www.informatics.jax.org/searchtool/Search.do?query=CLC&submit=Quick%0D%3251ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLC	rs17608	0.613618	0.7022	0.6311	0.09	1	11	exonic	exonic	exonic	CLC	CLC	ENSG00000105205	nonsynonymous SNV	nonsynonymous SNV	unknown	CLC:NM_001828:exon2:c.C83T:p.A28V,	CLC:uc002omh.3:exon2:c.C83T:p.A28V,	UNKNOWN	Het;G>A	1150;60|54	Het;G>A	1009;69|50	Hom;G>A	2763;6|110
N	N	-	19	40901614	40901614	A	G	snp	nonsynonymous SNV	T2228C	V743A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PRX	Prx	ENSG00000105227	periaxin	chr19:40899675-40919273	This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Charcot-Marie-Tooth disease	Mice homozygous for disruptions in this gene display locomotor problems as well as difficulty eating and breathing.  Demyelination of peripheral nerves develops with age.		GO:0008366;axon ensheathment;NAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRX	https://www.uniprot.org/uniprot/Q9BXM0	https://hpo.jax.org/app/browse/search?q=PRX&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605725	http://www.informatics.jax.org/searchtool/Search.do?query=PRX&submit=Quick%0D%3256ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRX	rs268671	0.531949	0.6097	0.5069	0.08	1	13	exonic	exonic	exonic	PRX	PRX	ENSG00000105227	nonsynonymous SNV	nonsynonymous SNV	unknown	PRX:NM_181882:exon7:c.T2645C:p.V882A,	PRX:uc002onq.3:exon3:c.T2228C:p.V743A,PRX:uc002onr.3:exon7:c.T2645C:p.V882A,	UNKNOWN	Het;A>G	3295;104|88	Het;A>G	2662;88|74	Hom;A>G	7317;0|170
N	N	-	19	41073863	41073863	C	T	snp	nonsynonymous SNV	C6631T	P2211S	hydrophobic,neutral	polar,hydrophilic,neutral	SPTBN4	Sptbn4	ENSG00000160460	spectrin beta, non-erythrocytic 4	chr19:40972148-41082370	Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder	Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed.	COPI-mediated anterograde transport	GO:0000165;MAPK cascade;TAS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;TAS|GO:0007605;sensory perception of sound;IEA|GO:0007628;adult walking behavior;IEA|GO:0009566;fertilization;IEA|GO:0010459;negative regulation of heart rate;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0019226;transmission of nerve impulse;IEA|GO:0021952;central nervous system projection neuron axonogenesis;IEA|GO:0022414;reproductive process;IEA|GO:0030534;adult behavior;IEA|GO:0033135;regulation of peptidyl-serine phosphorylation;IEA|GO:0034613;cellular protein localization;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045162;clustering of voltage-gated sodium channels;IEA|GO:0051693;actin filament capping;IEA|GO:0061337;cardiac conduction;IEA|GO:0090002;establishment of protein localization to plasma membrane;ISS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;ISS|GO:0005912;adherens junction;ISS|GO:0005938;cell cortex;IEA|GO:0008091;spectrin;IEA|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IDA|GO:0016605;PML body;IDA|GO:0030424;axon;IEA|GO:0033268;node of Ranvier;IEA|GO:0033270;paranode region of axon;IEA|GO:0043025;neuronal cell body;IEA|GO:0043194;axon initial segment;IEA|GO:0043203;axon hillock;IEA|GO:0070062;extracellular exosome;IDA|GO:0070852;cell body fiber;IEA	GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IEA|GO:0019902;phosphatase binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0030507;spectrin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPTBN4		https://hpo.jax.org/app/browse/search?q=SPTBN4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606214	http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN4&submit=Quick%0D%10472ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN4	rs61733984	0.0555112	0	0.0864	0.08	1	13	exonic	exonic	exonic	SPTBN4	SPTBN4	ENSG00000160460	nonsynonymous SNV	nonsynonymous SNV	unknown	SPTBN4:NM_020971:exon31:c.C6631T:p.P2211S,	SPTBN4:uc002onz.3:exon31:c.C6631T:p.P2211S,SPTBN4:uc002ony.3:exon31:c.C6631T:p.P2211S,SPTBN4:uc010egx.3:exon19:c.C2860T:p.P954S,	UNKNOWN	Het;C>T	486;30|23	Het;C>T	602;13|24	Hom;C>T	1332;0|47
N	N	-	19	41211056	41211056	T	C	snp	nonsynonymous SNV	A398G	H133R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ADCK4	Adck4																	rs3865452	0.477436	0.4525	0.5085	0.08	1	13	exonic	exonic	exonic	ADCK4	ADCK4	ENSG00000123815	nonsynonymous SNV	nonsynonymous SNV	unknown	ADCK4:NM_024876:exon7:c.A521G:p.H174R,ADCK4:NM_001142555:exon6:c.A398G:p.H133R,	ADCK4:uc002ooq.2:exon6:c.A398G:p.H133R,ADCK4:uc002oor.2:exon7:c.A521G:p.H174R,	UNKNOWN	Het;T>C	1348;87|64	Het;T>C	1394;73|65	Hom;T>C	3580;0|134
N	N	-	19	41255500	41255500	C	G	snp	nonsynonymous SNV	G209C	R70P	polar,hydrophilic,charged(+)	hydrophobic,neutral	C19orf54	BC024978	ENSG00000188493	chromosome 19 open reading frame 54	chr19:41246761-41257458			 					http://www.genecards.org/index.php?path=/Search/keyword/C19orf54				http://www.informatics.jax.org/searchtool/Search.do?query=C19orf54&submit=Quick%0D%16043ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf54	rs2254343	0.756789	0	0.7332	0.25	3	12	exonic	exonic	exonic	C19orf54	C19orf54	ENSG00000188493	nonsynonymous SNV	nonsynonymous SNV	unknown	C19orf54:NM_198476:exon1:c.G209C:p.R70P,	C19orf54:uc002oou.1:exon1:c.G209C:p.R70P,	UNKNOWN	Het;C>G	1084;69|50	Het;C>G	450;58|24	Hom;C>G	2750;2|105
N	N	-	19	41381647	41381647	A	C	snp	nonsynonymous SNV	T1436G	V479G	aliphatic,hydrophobic,neutral	aliphatic,neutral	CYP2A7	Cyp2a5	ENSG00000198077	cytochrome P450 family 2 subfamily A member 7	chr19:41381344-41388657	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]	CYP2A6; Chronic renal failure|Kidney Failure, Chronic	Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine.	CYP2E1 reactions	GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7			https://www.ncbi.nlm.nih.gov/omim/?term=608054	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7	rs12460590	0.714257	0	0.6679	0.08	1	13	exonic	exonic	exonic	CYP2A7	CYP2A7	ENSG00000198077	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP2A7:NM_000764:exon9:c.T1436G:p.V479G,CYP2A7:NM_030589:exon8:c.T1283G:p.V428G,	CYP2A7:uc002opo.3:exon9:c.T1436G:p.V479G,CYP2A7:uc002opn.3:exon8:c.T1283G:p.V428G,CYP2A7:uc002opm.3:exon9:c.T1436G:p.V479G,	UNKNOWN	Het;A>C	2076;143|89	Het;A>C	542;110|30	Hom;A>C	2309;0|72
N	N	-	19	41383799	41383799	G	A	snp	nonsynonymous SNV	C931T	R311C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	CYP2A7	Cyp2a5	ENSG00000198077	cytochrome P450 family 2 subfamily A member 7	chr19:41381344-41388657	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]	CYP2A6; Chronic renal failure|Kidney Failure, Chronic	Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine.	CYP2E1 reactions	GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7			https://www.ncbi.nlm.nih.gov/omim/?term=608054	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7	rs3869579	0.519169	0.4869	0.5226	0.50	6	12	exonic	exonic	exonic	CYP2A7	CYP2A7	ENSG00000198077	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP2A7:NM_000764:exon6:c.C931T:p.R311C,CYP2A7:NM_030589:exon5:c.C778T:p.R260C,	CYP2A7:uc002opo.3:exon6:c.C931T:p.R311C,CYP2A7:uc002opn.3:exon5:c.C778T:p.R260C,CYP2A7:uc002opm.3:exon6:c.C931T:p.R311C,	UNKNOWN	Het;G>A	1536;95|75	Het;G>A	1159;79|54	Hom;G>A	3035;0|113
N	N	-	19	41384675	41384675	T	C	snp	nonsynonymous SNV	A821G	H274R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	CYP2A7	Cyp2a5	ENSG00000198077	cytochrome P450 family 2 subfamily A member 7	chr19:41381344-41388657	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]	CYP2A6; Chronic renal failure|Kidney Failure, Chronic	Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine.	CYP2E1 reactions	GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7			https://www.ncbi.nlm.nih.gov/omim/?term=608054	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7	rs4079366	0.794329	0.7949	0.7599	0.08	1	13	exonic	exonic	exonic	CYP2A7	CYP2A7	ENSG00000198077	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP2A7:NM_000764:exon5:c.A821G:p.H274R,CYP2A7:NM_030589:exon4:c.A668G:p.H223R,	CYP2A7:uc002opo.3:exon5:c.A821G:p.H274R,CYP2A7:uc002opn.3:exon4:c.A668G:p.H223R,CYP2A7:uc002opm.3:exon5:c.A821G:p.H274R,	UNKNOWN	Het;T>C	1541;51|68	Het;T>C	1062;76|52	Hom;T>C	3689;0|137
N	N	-	19	41386136	41386136	A	C	snp	nonsynonymous SNV	T507G	D169E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	CYP2A7	Cyp2a5	ENSG00000198077	cytochrome P450 family 2 subfamily A member 7	chr19:41381344-41388657	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]	CYP2A6; Chronic renal failure|Kidney Failure, Chronic	Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine.	CYP2E1 reactions	GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7			https://www.ncbi.nlm.nih.gov/omim/?term=608054	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7	rs4142867	0.519169	0.4869	0.5229	0.25	3	12	exonic	exonic	exonic	CYP2A7	CYP2A7	ENSG00000198077	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP2A7:NM_000764:exon4:c.T507G:p.D169E,CYP2A7:NM_030589:exon3:c.T354G:p.D118E,	CYP2A7:uc002opo.3:exon4:c.T507G:p.D169E,CYP2A7:uc002opn.3:exon3:c.T354G:p.D118E,CYP2A7:uc002opm.3:exon4:c.T507G:p.D169E,	UNKNOWN	Het;A>C	2590;109|114	Het;A>C	2123;90|92	Hom;A>C	5448;0|193
N	N	-	19	41386420	41386420	A	C	snp	nonsynonymous SNV	T457G	S153A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	CYP2A7	Cyp2a5	ENSG00000198077	cytochrome P450 family 2 subfamily A member 7	chr19:41381344-41388657	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]	CYP2A6; Chronic renal failure|Kidney Failure, Chronic	Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine.	CYP2E1 reactions	GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7			https://www.ncbi.nlm.nih.gov/omim/?term=608054	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7	rs56081734	0.51857	0.4729	0.5206	0.08	1	13	exonic	exonic	exonic	CYP2A7	CYP2A7	ENSG00000198077	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP2A7:NM_000764:exon3:c.T457G:p.S153A,CYP2A7:NM_030589:exon2:c.T304G:p.S102A,	CYP2A7:uc002opo.3:exon3:c.T457G:p.S153A,CYP2A7:uc002opn.3:exon2:c.T304G:p.S102A,CYP2A7:uc002opm.3:exon3:c.T457G:p.S153A,	UNKNOWN	Het;A>C	2216;98|98	Het;A>C	1939;98|90	Hom;A>C	4673;2|171
N	N	-	19	41386486	41386486	C	A	snp	nonsynonymous SNV	G391T	A131S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	CYP2A7	Cyp2a5	ENSG00000198077	cytochrome P450 family 2 subfamily A member 7	chr19:41381344-41388657	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]	CYP2A6; Chronic renal failure|Kidney Failure, Chronic	Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine.	CYP2E1 reactions	GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7			https://www.ncbi.nlm.nih.gov/omim/?term=608054	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7	rs3815708	0.517772	0	0.0724	0.00	0	13	exonic	exonic	exonic	CYP2A7	CYP2A7	ENSG00000198077	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP2A7:NM_000764:exon3:c.G391T:p.A131S,CYP2A7:NM_030589:exon2:c.G238T:p.A80S,	CYP2A7:uc002opo.3:exon3:c.G391T:p.A131S,CYP2A7:uc002opn.3:exon2:c.G238T:p.A80S,CYP2A7:uc002opm.3:exon3:c.G391T:p.A131S,	UNKNOWN	Het;C>A	2203;68|59	Ref		Hom;C>A	4006;0|91
N	N	-	19	41386494	41386494	A	C	snp	nonsynonymous SNV	T383G	L128R	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	CYP2A7	Cyp2a5	ENSG00000198077	cytochrome P450 family 2 subfamily A member 7	chr19:41381344-41388657	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]	CYP2A6; Chronic renal failure|Kidney Failure, Chronic	Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine.	CYP2E1 reactions	GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7			https://www.ncbi.nlm.nih.gov/omim/?term=608054	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7	rs3815710	0.514976	0	0.0657	0.08	1	13	exonic	exonic	exonic	CYP2A7	CYP2A7	ENSG00000198077	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP2A7:NM_000764:exon3:c.T383G:p.L128R,CYP2A7:NM_030589:exon2:c.T230G:p.L77R,	CYP2A7:uc002opo.3:exon3:c.T383G:p.L128R,CYP2A7:uc002opn.3:exon2:c.T230G:p.L77R,CYP2A7:uc002opm.3:exon3:c.T383G:p.L128R,	UNKNOWN	Het;A>C	2083;65|53	Ref		Hom;A>C	3707;0|81
N	N	-	19	41386527	41386527	G	A	snp	nonsynonymous SNV	C350T	A117V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CYP2A7	Cyp2a5	ENSG00000198077	cytochrome P450 family 2 subfamily A member 7	chr19:41381344-41388657	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]	CYP2A6; Chronic renal failure|Kidney Failure, Chronic	Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine.	CYP2E1 reactions	GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7			https://www.ncbi.nlm.nih.gov/omim/?term=608054	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7	rs58798281	0.517971	0	0.2610	0.08	1	13	exonic	exonic	exonic	CYP2A7	CYP2A7	ENSG00000198077	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP2A7:NM_000764:exon3:c.C350T:p.A117V,CYP2A7:NM_030589:exon2:c.C197T:p.A66V,	CYP2A7:uc002opo.3:exon3:c.C350T:p.A117V,CYP2A7:uc002opn.3:exon2:c.C197T:p.A66V,CYP2A7:uc002opm.3:exon3:c.C350T:p.A117V,	UNKNOWN	Het;G>A	1229;42|35	Ref		Hom;G>A	1740;0|62
N	N	-	19	41387647	41387647	A	G	snp	nonsynonymous SNV	T190C	C64R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	CYP2A7	Cyp2a5	ENSG00000198077	cytochrome P450 family 2 subfamily A member 7	chr19:41381344-41388657	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]	CYP2A6; Chronic renal failure|Kidney Failure, Chronic	Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine.	CYP2E1 reactions	GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7			https://www.ncbi.nlm.nih.gov/omim/?term=608054	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7	rs10425169	0.518371	0	0.3128	0.08	1	13	exonic	exonic	exonic	CYP2A7	CYP2A7	ENSG00000198077	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP2A7:NM_000764:exon2:c.T190C:p.C64R,	CYP2A7:uc002opo.3:exon2:c.T190C:p.C64R,CYP2A7:uc002opm.3:exon2:c.T190C:p.C64R,	UNKNOWN	Het;A>G	3540;192|99	Het;A>G	2544;168|73	Hom;A>G	4462;0|99
N	N	-	19	41387656	41387656	A	T	snp	nonsynonymous SNV	T181A	F61I	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CYP2A7	Cyp2a5	ENSG00000198077	cytochrome P450 family 2 subfamily A member 7	chr19:41381344-41388657	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]	CYP2A6; Chronic renal failure|Kidney Failure, Chronic	Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine.	CYP2E1 reactions	GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7			https://www.ncbi.nlm.nih.gov/omim/?term=608054	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7	rs10425176	0.518171	0	0.2999	0.08	1	13	exonic	exonic	exonic	CYP2A7	CYP2A7	ENSG00000198077	nonsynonymous SNV	nonsynonymous SNV	unknown	CYP2A7:NM_000764:exon2:c.T181A:p.F61I,	CYP2A7:uc002opo.3:exon2:c.T181A:p.F61I,CYP2A7:uc002opm.3:exon2:c.T181A:p.F61I,	UNKNOWN	Het;A>T	3562;178|100	Het;A>T	2617;152|75	Hom;A>T	4485;0|103
N	N	-	19	41858921	41858921	G	A	snp	nonsynonymous SNV	C29T	P10L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	TGFB1	Tgfb1	ENSG00000105329	transforming growth factor beta 1	chr19:41807492-41859816	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]	cardiovascular; Camurati-Engelmann disease; aging; preeclampsia; Pre-eclampsia; paediatric renal allograft; lung cancer; Pulmonary Fibrosis; prostate cancer; polycystic kidney disease; Hyperparathyroidism, Secondary; Gestational trophoblastic neoplasms; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy; Carcinoma, Squamous Cell|Esophageal Neoplasms; Epstein-Barr Virus Infections|Hematologic Diseases; Hepatitis C, Chronic|Viremia; bone mineral density; Scleroderma, Systemic|Systemic Scleroderma; Abortion, Habitual; Glomerulonephritis, IGA|Kidney Failure, Chronic; Mucocutaneous Lymph Node Syndrome; Osteoporosis|Spinal Fractures; Respiratory Hypersensitivity; allograft dysfunction, renal; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; cardiomyopathy; heart anomalies, congenital; Hypertension, Pulmonary; Angioedema|Drug Hypersensitivity|Urticaria; Tracheal Stenosis; Dupuytren's Contracture; Adenocarcinoma|Colorectal Neoplasms; Total IgE; atopic dermatitis; very low bone mass; hepatitis B; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; esophageal cancer ; Multiple System Atrophy; Adenoma|Colorectal Neoplasms; obesity; Sjogren's syndrome; Osteoporosis; Cystic Fibrosis|Urogenital Abnormalities; Lupus Erythematosus, Systemic|Lupus Nephritis|Nephritis SLE|Systemic lupus erythematosus; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Food Hypersensitivity; Gingival Overgrowth; asthma; renal allograft rejection; Chronic renal failure|Fibrosis|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Kidney Failure, Chronic; Hepatopulmonary Syndrome|Liver Cirrhosis; Cardiovascular Diseases|Death; BMI; Carcinoma, Squamous Cell|Cervical Neoplasm|Neoplasm Invasiveness|Squamous cell carcinoma|Uterine Cervical Neoplasms; Asthma|; Graves disease; Fibrosis|Neoplasms|Radiation Injuries; chronic idiopathic neutropenia; early onset ischemic heart disease.; diabetes, type 1; hepatitis C; kidney graft survival; Osteolysis|Prosthesis Failure; Hepatitis C|HIV Infections; Leprosy; Adenomatous Polyps|Colonic Polyps|Colorectal Neoplasms|Hyperplasia; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; Urticaria; Glomerulonephritis, IGA|IGA Glomerulonephritides|Recurrence; HCV-induced liver fibrosis; radiation-induced damage to normal tissues; left ventricular hypertrophy; interstitial lung diseases; Asbestosis|Lung Neoplasms|Mesothelioma|Silicosis; Albuminuria|Hypertension; Paraproteinemias; Type 2 diabetes; Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Pemphigus; Apoplexy|Brain Ischemia|Dementia, Vascular|Stroke; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; Berylliosis|Sarcoidosis; coronary artery disease; Anoxia|Hypercapnia|Hypertension, Pulmonary|Pulmonary Disease, Chronic Obstructive; Kidney Failure, Chronic; Carcinoma, Hepatocellular|Hepatitis C, Chronic|LCC - Liver cell carcinoma|Liver neoplasms; Glomerulonephritis, IGA|IGA Glomerulonephritides|Lupus Nephritis|Nephritis SLE; Kidney Failure|kidney; failure|Renal Insufficiency; Inflammation|Venous Thromboembolism; rheumatic heart disease; Apoplexy|Myocardial Infarction|Stroke; lymphoproliferative disorders, post-transplant; kidney failure, chronic polycystic kidney disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; retinopathy of prematurity; graft-vs-host disease; ossification of the posterior longitudinal ligament; proliferative vitreoretinopathy rhegmatogenous retinal detachment; preterm delivery; Stomach Neoplasms; Asthma|Constriction, Pathologic|; Sarcoidosis|Tuberculosis, Pulmonary; Cicatrization|Kidney Diseases|Vesico-Ureteral Reflux|Vesicoureteral reflux; Autoimmune thyroiditis|Graves Disease|Graves' Disease|Hashimoto Disease|Thyroiditis, Autoimmune; increased incidence of invasive breast cancer; ankylosing spondylitis; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Dementia; Epstein-Barr Virus Infections|Lymphoproliferative Disorders; Cleft Lip|Cleft Palate; Glomerulonephritis, IGA|IGA Glomerulonephritides; Glaucoma, Open-Angle; Graves Ophthalmopathy|Thyroid associated opthalmopathies; Albuminuria|Hypertension|Kidney Diseases; brucellosis; Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Inflammation|Insulin Resistance|Kidney Diseases; lung transplant complications; chronic lung disease; Chronic renal failure|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure, Chronic; heart transplant complications; Infection|Inflammation|Premature Birth; Myopia; Chronic renal failure|Diabetic Nephropathies|Diabetic Nephropathy|Glomerulonephritis|Kidney Failure, Chronic; Fibrosis|Hepatitis C, Chronic; B-Cell Lymphomas|Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; pancreatitis; cirrhosis; liver cancer; bladder cancer; Exfoliation Syndrome|Glaucoma, Open-Angle; Irritable Bowel Syndrome; Leptospirosis|Swamp fever; Albuminuria|Inflammation|Kidney Diseases; arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI; radiotherapy; ovarian cancer ; lung cancer ; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Chlamydia Infections|Infertility, Female; Delayed Graft Function|Inflammation; Carcinoma, Squamous Cell|Oropharyngeal Neoplasms|Papillomavirus Infections|Squamous cell carcinoma|Tumor of Oropharynx; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; Wegener Granulomatosis; Alzheimer Disease|Alzheimer's Disease|Neurodegenerative Diseases; renal allograft outcome; Silicosis|Tuberculosis, Pulmonary; Myocardial Infarction; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Autoimmune Diseases|Pelvic Pain|Prostatitis|Syndrome; stomach cancer; Scleroderma, Systemic|Skin Ulcer|Systemic Scleroderma; Immune System Diseases; Albuminuria|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy|Diabetic Retinopathy; Chronic renal failure|Kidney Failure, Chronic; parvovirus; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy|Ventricular Dysfunction, Left; Nephrotic Syndrome; Breast Neoplasms|Mammary Neoplasms; graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis; duodenal ulcer gastric ulcer; diabetes, type 1 ; Infection|Postoperative Complications; bone density; liver transplant; hepatitis C, chronic; ossification of spine; Hepatitis C; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; cirrhosis; SIDS/sudden infant death syndrome; Thrombosis; Otosclerosis; Brain Ischemia|Inflammation|Stroke; Carcinoma, Hepatocellular|Hepatitis B|LCC - Liver cell carcinoma|Liver neoplasms; Nasopharyngeal Neoplasms|Radiation Pneumonitis; Hepatitis C, Chronic|Liver Cirrhosis; Hepatitis B, Chronic; Penile Induration|Peyronie Disease; Endometriosis; radiotherapy response; dental implants; metabolism disorders; kidney cancer; end-stage heart failure; small for gestational age; juvenile arthritis; sarcoidosis; Coronary Disease|Coronary heart disease|Graft vs Host Disease; Chronic Obstructive Pulmonary Disease; myocardial infarction; Carcinoma, Squamous Cell|Nasopharyngeal Neoplasms|Squamous cell carcinoma; kidney transplant complications; leukemia; keloid disease; fibrotic lung disease; Rheumatoid spondylitis|Spondylitis, Ankylosing; Brucellosis; Hepatitis B|Recurrence; Pulmonary Disease, Chronic Obstructive; Aggressive Periodontitis|Periodontitis, Juvenile; prostatic hyperplasia; Glomerulonephritis, IGA; Lupus Erythematosus, Systemic; Coronary Disease; Corneal Dystrophies, Hereditary; Coronary Disease|Coronary heart disease; Chronic renal failure|Kidney Failure, Chronic|Nephritis; arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Liver Cirrhosis|Liver Neoplasms; Asthma|Drug Hypersensitivity|Rhinitis, Allergic, Perennial|Sinusitis; Oral Submucous Fibrosis; Tuberculosis; Colitis, Ulcerative; osteoporosis, postmenopausal; estradiol; Cadaver; allograft rejection, heart; Asthma; desensitization in solid organ transplant recipients ; Coronary Artery Disease|Inflammation; Atrophy|Gastritis|Helicobacter Infections|Precancerous Conditions|Stomach Neoplasms; Chronic renal failure|Hypertension, Renal|Kidney Failure, Chronic|Renal hypertension; Breast Neoplasms|Carcinoma, Ductal|Carcinoma, Lobular|Ductal Carcinoma|Mammary Neoplasms|Neoplasm Recurrence, Local; Vesico-Ureteral Reflux|Vesicoureteral reflux; pancreatic neoplasm|Pancreatic Neoplasms; berylliosis; Uterine Cervical Incompetence; G6PD deficiency; Cystic Fibrosis; Myelodysplastic Syndromes|Preleukemia; Dengue Hemorrhagic Fever; Arthritis, Rheumatoid|; Asthma|Bronchial Hyperreactivity|; Emphysema; longevity; bone marrow transplantation; respiratory syncytial virus bronchiolitis; pemphigus vulgaris; Behcet Syndrome|; Osteoporosis, Postmenopausal; Corneal Dystrophies, Hereditary|Hereditary corneal dystrophy; idiopathic pulmonary fibrosis; colorectal cancer; Tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate; Hepatitis B|Hepatitis C|Reperfusion Injury; Hypersensitivity; Chronic Hepatitis C; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy|Myocardial ischemia|Postoperative Complications|Rheumatic Heart Disease; depression; Eclampsia|Pre-Eclampsia|Syndrome; graft-versus-host disease; periodontitis; Polyarteritis Nodosa|Wegener Granulomatosis; Chronic ulcerative colitis|Colitis, Ulcerative; allergic rhinitis; systemic sclerosis; Idiopathic Dilated Cardiomyopathy; Cystic Fibrosis|Hypertension, Portal|Liver Cirrhosis|Liver Diseases; Helicobacter Infections|Peptic Ulcer|Stomach Neoplasms; colorectal cancer: association; celiac disease; Multiple Sclerosis, Relapsing-Remitting; Cicatrization|Vesico-Ureteral Reflux|Vesicoureteral reflux; pancreatitis, chronic; allograft outcome; Neoplasms; Cystic Fibrosis|Lung Diseases; esophageal adenocarcinoma; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; Autoimmune Diseases|Gastritis; HIV; Ache, Low Back|Intervertebral Disk Displacement|Spinal Osteophytosis; bronchiolitis obliterans syndrome; chronic obstructive pulmonary disease/COPD; hepatocellular carcinoma; parvovirus B19 infection; Migraine Disorders; Common Variable Immunodeficiency; smoking; Delayed Graft Function; Wounds and Injuries; Heart Valve Diseases|Rheumatic Heart Disease; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Adenocarcinoma|Stomach Neoplasms; Kidney Diseases; Pancreatitis; Anemia, Refractory|Myelodysplastic Syndromes|Preleukemia|Refractory anaemia -RETIRED-; hypodontia; subcutaneous fibrosis; Hepatitis B, Chronic|Liver Cirrhosis; Graft vs Host Disease; Alveolitis, Extrinsic Allergic|Bird Fancier's Lung|Extrinsic allergic alveolitis; Lichen Planus, Oral; patent ductus arteriosus; Multiple Sclerosis; infertility, male; cervical intraepithelial neoplasia grade 3; Inflammation|Myocardial Infarction; Prosthesis Failure; pneumoconiosis; urinary tract infection vesicoureteral reflux; Angina Pectoris|Coronary Artery Disease|Inflammation|Myocardial Infarction; Lupus Erythematosus, Systemic|Sjogren's Syndrome|Systemic lupus erythematosus; Alzheimer Disease|Alzheimer's Disease|Cerebral Amyloid Angiopathy; diabetes, type 1 diabetic nephropathy; colorectal cancer; Fatty Liver|Hepatitis C, Chronic|Insulin Resistance; Giardiasis; Albuminuria|Hypertension|Hypertrophy, Left Ventricular; nephropathy; Q fever; melanoma; null; Cystic Fibrosis|; Dengue Hemorrhagic Fever|; cyclosporine ; diabetic nephropathy; Celiac Disease; Renal Insufficiency; Myopia, Degenerative; Abdominal Aortic Aneurysm; Tuberculosis, Pulmonary; blood pressure; nephropathy, IgA; Hepatitis C, Chronic; Breast Neoplasms|Fibrosis|Mammary Neoplasms; autoimmune-associated congenital heart block.; angiopathy, cerebral amyloid dementia, vascular neocortical plaques; Pneumoconiosis; Eclampsia|Pre-Eclampsia; Hepatitis C|Pregnancy Complications, Infectious; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Alcoholic Liver Diseases|Liver Diseases, Alcoholic; rheumatoid arthritis; meningioma; cervical cancer; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Psoriasis; multiple sclerosis; liver transplantation, immunosuppression after; Arthritis, Rheumatoid|Hypertension; Graft vs Host Disease|Leukemia; Cicatrix, Hypertrophic|Keloid; Cadaver|Chronic renal failure|Kidney Failure, Chronic; Cystic Fibrosis|Pseudomonas Infections; Hemochromatosis|Liver Cirrhosis; Hepatitis B, Chronic|Hepatitis C, Chronic|Hepatitis, Autoimmune; kidney; failure|Renal Insufficiency; breast cancer; Asthma severity; Bronchopulmonary Dysplasia|; Rhinitis, Allergic, Perennial; Periodontal Diseases|Periodontitis; hypertension; indoleamine-pyrrole 2,3-dioxygenase activity; pulmonary fibrosis sarcoidosis; Brucellosis|; epithelial ovarian cancer ; Intracranial Aneurysm|Stroke; Hepatitis C|Liver Cirrhosis|Liver Cirrhosis, Alcoholic; Cardiovascular Disease; Abortion, Spontaneous; Alzheimer's disease; Cardiovascular Diseases|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Hepatitis C|Recurrence; abdominal aortic aneurysm; renal transplantation, rejection after; Amyotrophic Lateral Sclerosis|Anoxia|; Breast Neoplasms|Carcinoma, Ductal, Breast|Fibrosis|Invasive Ductal Breast Carcinoma|Mammary Neoplasms|Radiation Injuries; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch; atherosclerosis; Cervical Neoplasm|Endometrial Neoplasms|Radiation Injuries|Uterine Cervical Neoplasms; breast cancer ; Helicobacter Infections|Stomach Neoplasms; Chlamydia Infections|Inflammation|Trachoma; Hepatitis B|Hepatitis D; Pain, Postoperative|Radius Fractures|Reflex Sympathetic Dystrophy; kidney transplant; testicular cancer; Carcinoma, Hepatocellular|Hepatitis B, Chronic|Liver Neoplasms; Dementia, Vascular|; Liver Cirrhosis, Alcoholic|Liver Diseases, Alcoholic; Arthritis, Rheumatoid|Rheumatoid Arthritis; Periodontitis; graft rejection, liver; oral submucous fibrosis; chronic obstructive pulmonary disease; heart transplant; Helicobacter Infections|Inflammation|Precancerous Conditions|Stomach Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Premature Birth; Inflammation|Premature Birth; thrombosis; hepatitis B liver disease, chronic and cirrhosis; osteoarthritis; Asthma|Hypersensitivity; COPD | Chronic obstructive Pulmonary Disease; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Cellulitis|Obesity; cell-surface B7 expression; cytokine production; prevalent vertebral fractures; Bone Mineral Density; Clonorchiasis|Fibrosis; Kidney Diseases|Postoperative Complications; Atrial Fibrillation|Hypertension; Inflammation; tuberculosis; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Neoplasm of lung ; Apoplexy|Stroke; liver graft rejection; Wegener's granulomatosis; graft versus host disease; liver disease; hepatitis C, chronic; heart failure; respiratory syncytial virus; normal variation; Recurrence|Venous Thromboembolism; BMI- Edema rosiglitazone or pioglitazone; lung function; Liver Failure; hepatitis C infection; childhood idiopathic thrombocytopenic purpura.; systemic lupus erythematosus; Vesico-Ureteral Reflux; Carcinoma|Colorectal Neoplasms; Fractures, Bone|Osteoporosis|Spinal Fractures; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; vesicoureteral reflux; pregnancy loss, recurrent; liver cancer; advanced-stage endometriosis; Biliary Tract Neoplasms|Inflammation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Hypercholesterolemia|LDLC levels; inflammatory bowel disease; Carotid artery stenosis|Carotid Stenosis; diabetes, type 2; osteoporosis; cardiac transplantation; Atopic asthma; bronchodilator response; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Chagas Disease|; Fatty Liver|Liver Cirrhosis|Obesity, Morbid	Many homozygous null mutants die in utero by day 10.5 from yolk sac vasculature and hemopoietic defects. Survivors die by 5 weeks with wasting syndrome, excess inflammatory response and tissue necrosis. On BALB/c, mice develop necroinflammatory hepatitis.	RUNX3 regulates p14-ARF	GO:0000060;protein import into nucleus, translocation;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000165;MAPK cascade;IMP|GO:0001570;vasculogenesis;IEA|GO:0001657;ureteric bud development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001763;morphogenesis of a branching structure;IEA|GO:0001775;cell activation;IEA|GO:0001837;epithelial to mesenchymal transition;IDA|GO:0001843;neural tube closure;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002028;regulation of sodium ion transport;IEA|GO:0002062;chondrocyte differentiation;IDA|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0002248;connective tissue replacement involved in inflammatory response wound healing;TAS|GO:0002460;adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains;IEA|GO:0002513;tolerance induction to self antigen;IEA|GO:0002576;platelet degranulation;TAS|GO:0003179;heart valve morphogenesis;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006611;protein export from nucleus;IDA|GO:0006754;ATP biosynthetic process;IDA|GO:0006796;phosphate-containing compound metabolic process;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006954;inflammatory response;IDA|GO:0007050;cell cycle arrest;IDA|GO:0007093;mitotic cell cycle checkpoint;IDA|GO:0007173;epidermal growth factor receptor signaling pathway;IDA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007182;common-partner SMAD protein phosphorylation;IDA|GO:0007183;SMAD protein complex assembly;IDA|GO:0007184;SMAD protein import into nucleus;IDA|GO:0007219;Notch signaling pathway;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007435;salivary gland morphogenesis;IEP|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IEA|GO:0007565;female pregnancy;IEA|GO:0007568;aging;IEA|GO:0008156;negative regulation of DNA replication;IMP|GO:0008283;cell proliferation;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008354;germ cell migration;IEA|GO:0009314;response to radiation;IEA|GO:0009611;response to wounding;IEP|GO:0009749;response to glucose;IEA|GO:0009817;defense response to fungus, incompatible interaction;IEA|GO:0010033;response to organic substance;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;TAS|GO:0010628;positive regulation of gene expression;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0010716;negative regulation of extracellular matrix disassembly;IC|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010742;macrophage derived foam cell differentiation;IC|GO:0010763;positive regulation of fibroblast migration;IDA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IDA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0010936;negative regulation of macrophage cytokine production;IDA|GO:0014003;oligodendrocyte development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016049;cell growth;IEA|GO:0016202;regulation of striated muscle tissue development;IEA|GO:0016477;cell migration;IDA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0019049;evasion or tolerance of host defenses by virus;IDA|GO:0021915;neural tube development;IEA|GO:0022408;negative regulation of cell-cell adhesion;IDA|GO:0030214;hyaluronan catabolic process;IDA|GO:0030217;T cell differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030334;regulation of cell migration;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0030501;positive regulation of bone mineralization;IEP|GO:0030509;BMP signaling pathway;IBA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;TAS|GO:0030879;mammary gland development;IEA|GO:0031065;positive regulation of histone deacetylation;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031293;membrane protein intracellular domain proteolysis;IDA|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0031536;positive regulation of exit from mitosis;IEA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IDA|GO:0032270;positive regulation of cellular protein metabolic process;IDA|GO:0032355;response to estradiol;IDA|GO:0032570;response to progesterone;IDA|GO:0032667;regulation of interleukin-23 production;IEA|GO:0032700;negative regulation of interleukin-17 production;IEA|GO:0032740;positive regulation of interleukin-17 production;IDA|GO:0032801;receptor catabolic process;IDA|GO:0032930;positive regulation of superoxide anion generation;IDA|GO:0032943;mononuclear cell proliferation;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033280;response to vitamin D;IEA|GO:0034616;response to laminar fluid shear stress;IEA|GO:0035066;positive regulation of histone acetylation;IEA|GO:0035307;positive regulation of protein dephosphorylation;IDA|GO:0035902;response to immobilization stress;IEA|GO:0042060;wound healing;IEA|GO:0042110;T cell activation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0042306;regulation of protein import into nucleus;IEA|GO:0042307;positive regulation of protein import into nucleus;IDA|GO:0042482;positive regulation of odontogenesis;IEA|GO:0042493;response to drug;IEA|GO:0042552;myelination;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0043011;myeloid dendritic cell differentiation;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043117;positive regulation of vascular permeability;IDA|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043491;protein kinase B signaling;IMP|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0043537;negative regulation of blood vessel endothelial cell migration;IDA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IDA|GO:0043932;ossification involved in bone remodeling;IEP|GO:0045066;regulatory T cell differentiation;IEA|GO:0045216;cell-cell junction organization;IDA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0045591;positive regulation of regulatory T cell differentiation;IEA|GO:0045596;negative regulation of cell differentiation;IEP|GO:0045599;negative regulation of fat cell differentiation;IDA|GO:0045662;negative regulation of myoblast differentiation;IDA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046732;active induction of host immune response by virus;TAS|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048298;positive regulation of isotype switching to IgA isotypes;IDA|GO:0048468;cell development;IBA|GO:0048535;lymph node development;IEA|GO:0048565;digestive tract development;IEA|GO:0048642;negative regulation of skeletal muscle tissue development;IDA|GO:0048839;inner ear development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050714;positive regulation of protein secretion;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050765;negative regulation of phagocytosis;IEA|GO:0050777;negative regulation of immune response;IEA|GO:0050868;negative regulation of T cell activation;IEA|GO:0050900;leukocyte migration;TAS|GO:0050921;positive regulation of chemotaxis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051098;regulation of binding;IEA|GO:0051101;regulation of DNA binding;IEA|GO:0051152;positive regulation of smooth muscle cell differentiation;IEA|GO:0051280;negative regulation of release of sequestered calcium ion into cytosol;IEA|GO:0051781;positive regulation of cell division;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA|GO:0060312;regulation of blood vessel remodeling;IC|GO:0060325;face morphogenesis;IEA|GO:0060364;frontal suture morphogenesis;IEA|GO:0060389;pathway-restricted SMAD protein phosphorylation;IDA|GO:0060390;regulation of SMAD protein import into nucleus;IDA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060395;SMAD protein signal transduction;IBA|GO:0060744;mammary gland branching involved in thelarche;IEA|GO:0060751;branch elongation involved in mammary gland duct branching;IEA|GO:0060762;regulation of branching involved in mammary gland duct morphogenesis;IEA|GO:0060965;negative regulation of gene silencing by miRNA;IGI|GO:0061035;regulation of cartilage development;IEA|GO:0070306;lens fiber cell differentiation;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070723;response to cholesterol;IDA|GO:0071158;positive regulation of cell cycle arrest;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071479;cellular response to ionizing radiation;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0071677;positive regulation of mononuclear cell migration;IEA|GO:0085029;extracellular matrix assembly;IDA|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:0097421;liver regeneration;IEA|GO:1900126;negative regulation of hyaluronan biosynthetic process;IDA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1901203;positive regulation of extracellular matrix assembly;IC|GO:1901666;positive regulation of NAD+ ADP-ribosyltransferase activity;IDA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IDA|GO:1903077;negative regulation of protein localization to plasma membrane;IDA|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IGI|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IDA|GO:1903911;positive regulation of receptor clustering;IEA|GO:1905313;transforming growth factor beta receptor signaling pathway involved in heart development;IEA|GO:1990314;cellular response to insulin-like growth factor stimulus;IEA|GO:1990402;embryonic liver development;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IEA|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA|GO:2000727;positive regulation of cardiac muscle cell differentiation;IDA|GO:0000060;protein import into nucleus, translocation;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000165;MAPK cascade;IMP|GO:0001570;vasculogenesis;IEA|GO:0001657;ureteric bud development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001763;morphogenesis of a branching structure;IEA|GO:0001775;cell activation;IEA|GO:0001837;epithelial to mesenchymal transition;IDA|GO:0001843;neural tube closure;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002028;regulation of sodium ion transport;IEA|GO:0002062;chondrocyte differentiation;IDA|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0002248;connective tissue replacement involved in inflammatory response wound healing;TAS|GO:0002460;adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains;IEA|GO:0002513;tolerance induction to self antigen;IEA|GO:0002576;platelet degranulation;TAS|GO:0003179;heart valve morphogenesis;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006611;protein export from nucleus;IDA|GO:0006754;ATP biosynthetic process;IDA|GO:0006796;phosphate-containing compound metabolic process;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006954;inflammatory response;IDA|GO:0007050;cell cycle arrest;IDA|GO:0007093;mitotic cell cycle checkpoint;IDA|GO:0007173;epidermal growth factor receptor signaling pathway;IDA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007182;common-partner SMAD protein phosphorylation;IDA|GO:0007183;SMAD protein complex assembly;IDA|GO:0007184;SMAD protein import into nucleus;IDA|GO:0007219;Notch signaling pathway;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007435;salivary gland morphogenesis;IEP|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IEA|GO:0007565;female pregnancy;IEA|GO:0007568;aging;IEA|GO:0008156;negative regulation of DNA replication;IMP|GO:0008283;cell proliferation;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008354;germ cell migration;IEA|GO:0009314;response to radiation;IEA|GO:0009611;response to wounding;IEP|GO:0009749;response to glucose;IEA|GO:0009817;defense response to fungus, incompatible interaction;IEA|GO:0010033;response to organic substance;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;TAS|GO:0010628;positive regulation of gene expression;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0010716;negative regulation of extracellular matrix disassembly;IC|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010742;macrophage derived foam cell differentiation;IC|GO:0010763;positive regulation of fibroblast migration;IDA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IDA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0010936;negative regulation of macrophage cytokine production;IDA|GO:0014003;oligodendrocyte development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016049;cell growth;IEA|GO:0016202;regulation of striated muscle tissue development;IEA|GO:0016477;cell migration;IDA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0019049;evasion or tolerance of host defenses by virus;IDA|GO:0021915;neural tube development;IEA|GO:0022408;negative regulation of cell-cell adhesion;IDA|GO:0030214;hyaluronan catabolic process;IDA|GO:0030217;T cell differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030334;regulation of cell migration;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0030501;positive regulation of bone mineralization;IEP|GO:0030509;BMP signaling pathway;IBA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;TAS|GO:0030879;mammary gland development;IEA|GO:0031065;positive regulation of histone deacetylation;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031293;membrane protein intracellular domain proteolysis;IDA|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0031536;positive regulation of exit from mitosis;IEA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IDA|GO:0032270;positive regulation of cellular protein metabolic process;IDA|GO:0032355;response to estradiol;IDA|GO:0032570;response to progesterone;IDA|GO:0032667;regulation of interleukin-23 production;IEA|GO:0032700;negative regulation of interleukin-17 production;IEA|GO:0032740;positive regulation of interleukin-17 production;IDA|GO:0032801;receptor catabolic process;IDA|GO:0032930;positive regulation of superoxide anion generation;IDA|GO:0032943;mononuclear cell proliferation;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033280;response to vitamin D;IEA|GO:0034616;response to laminar fluid shear stress;IEA|GO:0035066;positive regulation of histone acetylation;IEA|GO:0035307;positive regulation of protein dephosphorylation;IDA|GO:0035902;response to immobilization stress;IEA|GO:0042060;wound healing;IEA|GO:0042110;T cell activation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0042306;regulation of protein import into nucleus;IEA|GO:0042307;positive regulation of protein import into nucleus;IDA|GO:0042482;positive regulation of odontogenesis;IEA|GO:0042493;response to drug;IEA|GO:0042552;myelination;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0043011;myeloid dendritic cell differentiation;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043117;positive regulation of vascular permeability;IDA|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043491;protein kinase B signaling;IMP|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0043537;negative regulation of blood vessel endothelial cell migration;IDA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IDA|GO:0043932;ossification involved in bone remodeling;IEP|GO:0045066;regulatory T cell differentiation;IEA|GO:0045216;cell-cell junction organization;IDA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0045591;positive regulation of regulatory T cell differentiation;IEA|GO:0045596;negative regulation of cell differentiation;IEP|GO:0045599;negative regulation of fat cell differentiation;IDA|GO:0045662;negative regulation of myoblast differentiation;IDA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046732;active induction of host immune response by virus;TAS|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048298;positive regulation of isotype switching to IgA isotypes;IDA|GO:0048468;cell development;IBA|GO:0048535;lymph node development;IEA|GO:0048565;digestive tract development;IEA|GO:0048642;negative regulation of skeletal muscle tissue development;IDA|GO:0048839;inner ear development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050714;positive regulation of protein secretion;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050765;negative regulation of phagocytosis;IEA|GO:0050777;negative regulation of immune response;IEA|GO:0050868;negative regulation of T cell activation;IEA|GO:0050900;leukocyte migration;TAS|GO:0050921;positive regulation of chemotaxis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051098;regulation of binding;IEA|GO:0051101;regulation of DNA binding;IEA|GO:0051152;positive regulation of smooth muscle cell differentiation;IEA|GO:0051280;negative regulation of release of sequestered calcium ion into cytosol;IEA|GO:0051781;positive regulation of cell division;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA|GO:0060312;regulation of blood vessel remodeling;IC|GO:0060325;face morphogenesis;IEA|GO:0060364;frontal suture morphogenesis;IEA|GO:0060389;pathway-restricted SMAD protein phosphorylation;IDA|GO:0060390;regulation of SMAD protein import into nucleus;IDA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060395;SMAD protein signal transduction;IBA|GO:0060744;mammary gland branching involved in thelarche;IEA|GO:0060751;branch elongation involved in mammary gland duct branching;IEA|GO:0060762;regulation of branching involved in mammary gland duct morphogenesis;IEA|GO:0060965;negative regulation of gene silencing by miRNA;IGI|GO:0061035;regulation of cartilage development;IEA|GO:0070306;lens fiber cell differentiation;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070723;response to cholesterol;IDA|GO:0071158;positive regulation of cell cycle arrest;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071479;cellular response to ionizing radiation;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0071677;positive regulation of mononuclear cell migration;IEA|GO:0085029;extracellular matrix assembly;IDA|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:0097421;liver regeneration;IEA|GO:1900126;negative regulation of hyaluronan biosynthetic process;IDA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1901203;positive regulation of extracellular matrix assembly;IC|GO:1901666;positive regulation of NAD+ ADP-ribosyltransferase activity;IDA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IDA|GO:1903077;negative regulation of protein localization to plasma membrane;IDA|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IGI|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IDA|GO:1903911;positive regulation of receptor clustering;IEA|GO:1905313;transforming growth factor beta receptor signaling pathway involved in heart development;IEA|GO:1990314;cellular response to insulin-like growth factor stimulus;IEA|GO:1990402;embryonic liver development;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IEA|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA|GO:2000727;positive regulation of cardiac muscle cell differentiation;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IDA|GO:0009986;cell surface;IMP|GO:0030141;secretory granule;IEA|GO:0030424;axon;IEA|GO:0031012;extracellular matrix;IDA|GO:0031093;platelet alpha granule lumen;TAS|GO:0043025;neuronal cell body;IEA|GO:0072562;blood microparticle;IDA	GO:0001948;glycoprotein binding;IPI|GO:0003823;antigen binding;IPI|GO:0005114;type II transforming growth factor beta receptor binding;IMP|GO:0005125;cytokine activity;TAS|GO:0005160;transforming growth factor beta receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0019899;enzyme binding;IPI|GO:0034713;type I transforming growth factor beta receptor binding;IMP|GO:0034714;type III transforming growth factor beta receptor binding;IMP|GO:0042803;protein homodimerization activity;IEA|GO:0043539;protein serine/threonine kinase activator activity;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0047485;protein N-terminus binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TGFB1	https://www.uniprot.org/uniprot/P01137	https://hpo.jax.org/app/browse/search?q=TGFB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=190180	http://www.informatics.jax.org/searchtool/Search.do?query=TGFB1&submit=Quick%0D%103ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TGFB1	rs1800470	0.545327	0	0.5623	0.20	2	10	exonic	exonic	exonic	TGFB1	TGFB1	ENSG00000105329	nonsynonymous SNV	nonsynonymous SNV	unknown	TGFB1:NM_000660:exon1:c.C29T:p.P10L,	TGFB1:uc002oqh.2:exon1:c.C29T:p.P10L,	UNKNOWN	Het;G>A	776;48|36	Het;G>A	621;27|30	Hom;G>A	1783;0|66
N	N	-	19	41869392	41869392	T	C	snp	nonsynonymous SNV	A33G	I11M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	B9D2	B9d2	ENSG00000123810	B9 protein domain 2	chr19:41860326-41870078	This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]	bladder cancer; normal variation; Chronic renal failure|Kidney Failure, Chronic; Albuminuria|Inflammation|Kidney Diseases	Mice carrying a targeted mutation of this gene exhibit preweaning lethality, hydrops fetalis, and abnormalities in craniofacial, limb, and eye development.	Mitotic Prometaphase	GO:0007062;sister chromatid cohesion;TAS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA|GO:0097711;ciliary basal body docking;TAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036038;MKS complex;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B9D2	https://www.uniprot.org/uniprot/Q9BPU9	https://hpo.jax.org/app/browse/search?q=B9D2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611951	http://www.informatics.jax.org/searchtool/Search.do?query=B9D2&submit=Quick%0D%5563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B9D2	rs2241714	0.649561	0.7245	0.6550	0.08	1	13	exonic	exonic	exonic	B9D2	B9D2	ENSG00000123810	nonsynonymous SNV	nonsynonymous SNV	unknown	B9D2:NM_030578:exon2:c.A33G:p.I11M,	B9D2:uc002oqj.2:exon2:c.A33G:p.I11M,	UNKNOWN	Het;T>C	1695;103|79	Het;T>C	1514;92|77	Hom;T>C	4808;2|183
N	N	-	19	44470420	44470420	T	C	snp	nonsynonymous SNV	T766C	C256R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	ZNF221	 	ENSG00000159905	zinc finger protein 221	chr19:44455375-44471861			 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005622;intracellular;IEA	GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF221	https://www.uniprot.org/uniprot/A0A087WT08			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF221&submit=Quick%0D%54ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF221	rs439676	0.845048	0.8512	0.9331	0.58	7	12	exonic	exonic	exonic	ZNF221	ZNF221	ENSG00000159905	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF221:NM_013359:exon6:c.T766C:p.C256R,ZNF221:NM_001297588:exon5:c.T766C:p.C256R,ZNF221:NM_001297589:exon5:c.T766C:p.C256R,	ZNF221:uc010ejb.1:exon5:c.T766C:p.C256R,ZNF221:uc010xws.1:exon6:c.T766C:p.C256R,ZNF221:uc002oxx.2:exon6:c.T766C:p.C256R,	UNKNOWN	Het;T>C	382;14|15	Het;T>C	401;12|16	Hom;T>C	901;0|31
N	N	-	19	45409167	45409167	C	G	snp	nonsynonymous SNV	C42G	N14K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	APOE	Apoe	ENSG00000130203	apolipoprotein E	chr19:45409011-45412650	The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]	diastolic blood pressure; glioblastoma; fluvastatin induced cholesterol changes; cognitive ability | hypertension; Spinal Cord Injuries; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Bone Mineral Density; Acute Coronary Syndrome|Inflammation; CADASIL|Chromosome Aberrations|Chromosome abnormality; Alzheimer Disease|Alzheimer's Disease|Dementia|Memory Disorders|Tooth Loss; Brain Ischemia|Diabetes mellitus|Hemiplegia|Hypercholesterolemia|Hypertension|Obesity; Chronic renal failure|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glomerulonephritis|Kidney Failure, Chronic|Polycystic Kidney, Autosomal Dominant; Exfoliation Syndrome; restenosis; multiple sclerosis; subarachnoid hemorrhage; Alzheimer's disease; chronic obstructive pulmonary disease/COPD; brain hemorrhage; Diabetes Mellitus, Type 2|Diabetic Nephropathies|; Brain Ischemia|Stroke; Congenital Heart Defects|Heart Defects, Congenital|Nervous System Diseases; Epilepsy, Temporal Lobe|Sclerosis; Alzheimer Disease|Alzheimer's Disease|Metabolic Diseases; Anemia, Iron-Deficiency|Iron deficiency anaemia; breast cancer; Alzheimer Disease|Amnesia|Atrophy|; elite runners; Memory Disorders; Amyloid Neuropathies, Familial; Hypercholesterolemia|LDLC levels; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Heart Diseases|Ventricular Dysfunction, Left; Alzheimer Disease|Alzheimer's Disease|Amnesia; Type 2 Diabetes| edema | rosiglitazone; Coronary Artery Disease|Hypercholesterolemia; Brain Ischemia|Intracranial Arteriosclerosis; Brain Ischemia|Carotid Artery Diseases|Stroke; Alzheimer Disease|Alzheimer's Disease|Cardiovascular Diseases|Vitamin B 12 Deficiency; Coronary Disease|Coronary heart disease|Inflammation; Down syndrome; premature coronary heart disease.; Cerebral Palsy; cardiovascular disease cholesterol, LDL diabetes, type 2 triglycerides; Brain Concussion|Brain Injuries|Unconsciousness; Cardiovascular Diseases|Obesity|Virilism; Cerebrovascular Disorders; Lipid levels|depression; Exfoliation Syndrome|Glaucoma, Open-Angle; Arteriovenous Malformations|Congenital arteriovenous malformation|Intracranial Hemorrhages; Cerebral Hemorrhage|Cerebral Hemorrhages; AIDS Dementia Complex|AIDS Related Dementia Complex; Coronary Artery Disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Plasma Lipid Levels; diabetes, type 2; lipoprotein; Vertebral Artery Dissection; Confusion|Confusion (Mental)|Dementia|Disease Progression; Critical Illness|Delirium; Alzheimer Disease|Alzheimer's Disease|Encephalitis, Herpes Simplex|Herpes encephalitis; Adenoma|Colorectal Neoplasms; arterial wall thickness; Aphasia, Primary Progressive|Dementia; depressive symptoms; Alzheimer Disease|Alzheimer's Disease|Arteriosclerosis; Cardiovascular Diseases|Psychomotor Disorders; Sepsis|Systemic infection; Hepatitis C, Chronic|Liver Cirrhosis; Creutzfeldt-Jakob disease; endogenous hypertriglyceridemia and familial hypercholesterolemia; colorectal cancer; atherosclerotic disease; cholesterol, HDL; triglycerides; cholesterol, total; lung cancer ; Dementia; Obesity|Osteoporosis, Postmenopausal; Cerebral Hemorrhage|Cerebral Hemorrhages|Hypertension; Alzheimer Disease|Alzheimer's Disease|Disorders; Head and Neck Neoplasms; Apoplexy|Cardiovascular Diseases|Ischemia|Stroke|Vascular Diseases; Breast Neoplasms|Lymphoma|Mammary Neoplasms; Fetal Diseases|Hypoxia-Ischemia, Brain|Infant, Newborn, Diseases; Brain Ischemia|Subarachnoid Hemorrhage; Alzheimer Disease|Cadaver; Learning Disorders; lipid profiles; Postoperative Complications; Amyotrophic Lateral Sclerosis|Craniocerebral Trauma|Injuries, Craniocerebral; Disease Progression; Coronary Stenosis|Hypertension; Cleft Lip|Cleft Palate; Osteoporosis, Postmenopausal; Cerebrovascular Disorders|Dementia; Spinal Cord Compression|Spinal Osteophytosis; Down Syndrome; Atherosclerosis|Coronary Artery Disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Angiopathies|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Hypertriglyceridemia; Epilepsy, Complex Partial; myocardial infarct; Brain Infarction|Cerebral Amyloid Angiopathy|Dementia|Diabetes Mellitus|Hyperinsulinism; Amyotrophic Lateral Sclerosis|; Kidney Failure; Hyperlipidemias; Epilepsy, Temporal Lobe|; left ventricular function; Rett Syndrome; Body Weight|Congenital Heart Defects|Growth Disorders|Heart Defects, Congenital; Diabetes mellitus|Kidney Diseases; Depression; Alcoholism|Hyperhomocysteinemia; Hyperlipidemias|Nephrotic Syndrome; Delirium|Postoperative Complications; Brain Ischemia|Carotid Stenosis; Alcoholism|Substance Withdrawal Syndrome; earlier age at onset in amyotrophic lateral sclerosis.; memory disturbance; insulin; lipoproteins; C-peptide; proinsulin; Diabetes Mellitus, Type 2|Uremia; acenocoumarol and phenprocoumon; Macular Degeneration; Confusion|Epilepsy, Temporal Lobe; Cardiovascular Diseases; Coronary Restenosis|Coronary Stenosis; Biliary Tract Neoplasms|Gallstones; Brain Injuries|Inflammation|Postoperative Complications; Cholelithiasis|Recurrence; Coronary Disease|Coronary heart disease|Hyperlipidemias; Cerebral Infarction|Intracranial Arteriosclerosis; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy; Parkinson Disease; dementia in other conditions; dementia but not cardiovascular mortality; Alzheimer Disease|Dementia|Memory Disorders; plasma HDL cholesterol (HDL-C) levels; Acute Coronary Syndrome; Geographic Atrophy|Macular Degeneration; Alzheimer Disease|Alzheimer's Disease|Dementia; Nephrotic Syndrome; Body Weight|Insulin Resistance|Syndrome; Amnesia|Brain Injuries; blood pressure, arterial; stroke, ischemic; atherosclerosis; Cardiovascular Diseases|Polycystic Ovary Syndrome; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; major depressive disorder; Alzheimer Disease|Memory Disorders; Multiple Sclerosis, Relapsing-Remitting; Diabetes Complications|; HIV Seropositivity; Alzheimer Disease|Down Syndrome; Alzheimer Disease|Dementia|Dementia, Vascular|Lewy Body Disease|Pick Disease of the Brain; Brain Ischemia|Subarachnoid Hemorrhage|Vasospasm, Intracranial; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; HIV Infections|[X]Human immunodeficiency virus disease; Anoxia|Brain Injuries|Hypotension; myocardial infarction; cardiovascular disease; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; Myocardial Ischemia|Nervous System Diseases|Postoperative Complications|Stroke; Smith-Lemli-Opitz syndrome; Myocardial Infarction; Cardiovascular Diseases|Hyperlipidemias; Memory Disorders|Sleep Apnea Syndromes; lipids; glucose; atherosclerosis; menopause; carotid atherosclerosis; triglycerides; insulin; lipoproteins; apoB; apoC-III; lipoprotein; lipids; cholesterol; cholesterol, HDL; lipoprotein; lipids; Coronary Disease|Hypercholesterolemia; Alzheimer Disease|Down Syndrome|; Brain Injuries|Dementia, Vascular|; LDL cholesterol; Renal Insufficiency, Chronic; Choroid Diseases|Macular Degeneration; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy|Hypercholesterolemia; Cerebral Hemorrhage|Recurrence|Stroke; Alzheimer Disease|Alzheimer's Disease|Dementia|Diabetes mellitus|Hypercholesterolemia|Metabolic Syndrome X; Aphasia|Aphasia, NOS|Apoplexy|Brain Ischemia|Stroke; Body Weight|Obesity; Cardiovascular Diseases|Inflammation; lipoprotein, LDL; lipids; preeclampsia; apolipoproteins; plasma lipid levels; Herpes Labialis; gallstones; Alzheimer Disease|Dementia|Dementia, Vascular|Lipid Metabolism Disorders|Neurodegenerative Diseases; Calcinosis|Carotid Artery Diseases; Hypertension; Atrial Fibrillation|Postoperative Complications; Atrophy|Dementia; Hyperlipidemias|Yin Deficiency; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Down Syndrome|Hepatitis B|Hypothyroidism; HIV Infections|Hyperlipidemias|[X]Human immunodeficiency virus disease; coronary heart disease and plasma lipid levels.; aneurysmal subarachnoid hemorrhage; Alzheimer's disease ; Hyperlipidemias|Hypertension; Hypercholesterolemia; Abortion, Spontaneous|Thrombosis; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Hypercholesterolemia; Carotid Artery Diseases|Hypertension; Biliary calculi|Cholelithiasis|Gallstones; Encephalitis, Herpes Simplex|Herpes encephalitis; Alzheimer Disease|Alzheimer's Disease|Cerebral Amyloid Angiopathy|Cerebral Infarction|Vascular Diseases; Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy|Genetic Predisposition to Disease; Diabetic Neuropathies|Peripheral Nervous System Diseases|Sensation Disorders; Prion Diseases; diabetes, type 1; subjective quality of life; cardiovascular; general cognitive ability; Bone Resorption|Vitamin K Deficiency; Cerebral Hemorrhage|; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; bladder cancer; psoriasis; Brain Injuries|; Familial type 3 hyperlipoproteinaemia|Hyperlipoproteinemia Type III; Hyperlipoproteinemias; Malaria, Falciparum; Alzheimer Disease|Alzheimer's Disease|Hallucinations; Amyotrophic Lateral Sclerosis; dementia, vascular; Acute Coronary Syndrome|; cardiovascular risk; Perioperative genomic profiles ; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Insulin Resistance; Alzheimer Disease|Alzheimer's Disease|Mercury Poisoning, Nervous System; Dementia|Down Syndrome; Kidney Failure, Acute|Postoperative Complications; Apoplexy|Carotid Artery Thrombosis|Intracranial Arteriosclerosis|Stroke; Angina pectoris|Angina, Unstable|Myocardial Infarction|Unstable angina; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Lead Poisoning|Prenatal Exposure Delayed Effects; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular; Chronic Kidney Insufficiency|Renal Insufficiency, Chronic; non-demented leprosy patients; oxidized LDL; lipids; chronic obstructive pulmonary disease; working memory; Carotid Artery Diseases|Vascular Diseases; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; Apoplexy|Hypoxia-Ischemia, Brain|Stroke; Alzheimer Disease|Alzheimer's Disease|Olfaction Disorders; Brain Concussion; Alzheimer's disease; Lewy body disease; null; Brain Edema|Brain Injuries|Cerebral Hemorrhage, Traumatic|Skull Fractures|Traumatic cerebral hemorrhage; Alzheimer Disease|Coronary Artery Disease|Hyperlipidemias; Alzheimer Disease|Alzheimer's Disease|Cardiovascular Diseases; C-Reactive Protein; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; multiple sclerosis.; atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic; attention brain white matter; Cerebral Amyloid Angiopathy|Cerebral Hemorrhage|Hypertension|Intracranial Arteriosclerosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Cardiovascular Diseases|Intracranial Hemorrhages|Stroke; Type 2 diabetes; Coronary Artery Disease|Plaque, Atherosclerotic; Hepatitis B; Alzheimer Disease|Alzheimer's Disease|Delirium|Recurrence; diabetic nephropathy; atherosclerosis, coronary; longevity; cholesterol; Brain Injuries|Hypopituitarism; Heart Defects, Congenital; HDL cholesterol; Hypertriglyceridemia|Psoriasis; familial combined hyperlipidemia; Cross Infection|Paramyxoviridae Infections; Hypertriglyceridemia|Pancreatitis; Fredrickson hyperlipoproteinemia; Paralysis|Sensation Disorders|Spinal Cord Injuries; Cardiovascular Diseases|Chronic renal failure|Kidney Failure, Chronic; Brain Infarction; Alzheimer Disease|Alzheimer's Disease|Memory Disorders; Hyperlipoproteinemia Type IV; Cerebral Hemorrhage|Cerebral Hemorrhages|Memory Disorders; Apoplexy|Stroke; Retinal Diseases; Fam hyperbetalipoproteinaemia|Hyperlipidemia, Familial Combined|Hyperlipoproteinemia Type II|Hypertriglyceridemia|Mixed hyperlipidemia; memory impairment; coronary heart disease; hypertension; mental illness; Apoplexy|Brain Ischemia|Stroke; Cerebral Amyloid Angiopathy; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Apoplexy|Brain Ischemia|Infarction, Middle Cerebral Artery|Stroke; cholesterol; coronary heart disease; lipoproteins; alcohol abuse; Alzheimer's disease; triglycerides; atherosclerosis, coronary; schizophrenia; Inflammation|Myocardial Infarction; Cerebral Infarction|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Ischemia|Stroke|Subarachnoid Hemorrhage; macular degeneration; Alzheimer's disease; Parkinson's disease; high-monounsaturated fatty acid diet; cholesterol, HDL; cholesterol, LDL; cholesterol, total; apoA1; apoE; apoB-100; Alzheimer Disease|; AIDS-Related Opportunistic Infections|Herpes Genitalis; Craniocerebral Trauma; Brain Damage, Chronic|Hypertension|Myocardial Ischemia|Stroke; Biliary calculi|Cholecystolithiasis|Gallstones|Lipid Metabolism Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Aortic Valve Stenosis|Calcinosis; Apoplexy|Brain Ischemia|Carotid artery stenosis|Carotid Stenosis|Infarction, Middle Cerebral Artery|Stroke; Mouth, Edentulous|Tooth Loss; triglycerides; cholesterol, total; apoA1; apoB; apoE; Familial dysbetalipoproteinemia; hypertension, pregnancy induced preeclampsia; Glomerulonephritis, IGA; body mass cholesterol cholesterol, LDL glucose insulin lipids; Recurrence|Venous Thromboembolism; Carotid Artery Diseases|Diabetes mellitus|Hypercholesterolemia; Bone Diseases, Metabolic|Osteoporosis; cerebrovascular disease; amyloid beta protein angiopathy and tau perivascular pathology but not neuritic plaques; body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar; sleep-disordered breathing; Multiple Sclerosis; Aphasia|Brain Ischemia|Cardiovascular Diseases|Cerebral Hemorrhage|Stroke; Coronary Artery Disease|Lupus Erythematosus, Systemic; Dementia|Memory Disorders|Stroke; Alzheimer Disease|Atrophy|Disease Progression; Cholelithiasis|Obesity, Morbid|Postoperative Complications; lipids; left ventricular mass; aortic gradient; aortic valve stenosis; bile lipid composition and cholesterol gallstone; Alzheimers disease; breast cancer ; multidimensional impairment; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Subarachnoid Hemorrhage|Vasospasm, Intracranial; cervical dystonia; genital herpes|Herpes Genitalis|Stomatitis, Herpetic; Hepatitis C|Remission, Spontaneous; Dystonic Disorders; outcome after head injury; thrombophilia and vascular disease; Alzheimer's disease vascular dementia; SNP allelic association; Kidney Failure, Chronic; Myocardial Ischemia; myocardial infarction | metabolic syndrome; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Nephrotic Syndrome; Candidiasis, Cutaneous|Cutaneous Candidiasis|Tinea Versicolor; Brain Injuries|Nerve Degeneration; Exophthalmos; Diabetes mellitus type II|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypoglycemia; Angina pectoris|Hyperlipidemias|Myocardial Infarction; Learning Disorders|Multiple Sclerosis; dementia; blood lipids and maximal oxygen uptake; Brain aging; holoprosencephaly; Carotid Artery Diseases; human fertility; Cataract|Macular Degeneration; Hypotension; Cardiovascular Diseases|Fatty Liver|Hyperlipidemias|Hypertriglyceridemia|Inflammation; Lupus Vasculitis, Central Nervous System; Body Weight|Coronary Disease; Coronary Disease|Coronary heart disease|Myocardial Infarction; Biliary calculi|Gallstones; lipid metabolism disorders; hyperlipidemia; depression; preeclampsia; pregnancy-induced chylomicronemia; Macular Degeneration|Vision, Low; recurrent pregnancy loss; Central Nervous System Diseases; Fetal Growth Retardation|Intrauterine growth retardation; Diabetes Complications|Ischemic Attack, Transient|Obesity|Transient Ischemic Attack; Alzheimer Disease|Disease Progression; bone density; synaptogenesis and memory.; persistent vegetative state; cerebrovascular disease; sickle cell anemia; Alzheimer's disease; dementia, vascular; Migraine Disorders|Tension-Type Headache; Alzheimer Disease|Atrophy|Dementia|Memory Disorders; Lymphoma, Non-Hodgkin; Coronary Disease|Obesity; Psoriasis; Chronic renal failure|Kidney Failure, Chronic; Hyperlipidemias|Myocardial Infarction; Alzheimer Disease|Alzheimer's Disease|Disease Progression; lung cancer; Apoplexy|Dementia|Myocardial Infarction|Stroke; Hypercholesterolemia|Myocardial Infarction; beta Thalassemia|beta-Thalassemia|Ventricular Dysfunction, Left; gout; cardiovascular disease risk; memory performance; warfarin sensitivity; metabolic syndrome; pregnancy loss; Hepatopulmonary Syndrome|Liver Cirrhosis; Fatty Liver; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Diarrhea, Infantile; Alzheimer Disease|Alzheimer's Disease|Aphasia, Primary Progressive|Dementia|Nerve Degeneration; Coronary Artery Disease|Hyperlipidemias; Cerebral Hemorrhage|Cerebral Hemorrhages|Hemorrhage|Hypertension; pregnancy loss, recurrent; atherosclerosis, coronary; cerebral infarct, atherothrombotic; cholesterol, LDL; personality traits; Ketosis; Alzheimer's disease cognitive function; patent ductus arteriosus; Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic; Arteriosclerosis|Brain Ischemia|Recurrence; Cerebral Amyloid Angiopathy|Plaque, Amyloid; Albuminuria|Inflammation|Kidney Diseases; Alzheimer Disease|Alzheimer's Disease|Atrophy|Dementia|Memory Disorders; Cellulitis|Obesity; Alcohol Amnestic Disorder|Alcoholism|Alzheimer Disease|Alzheimer's Disease; Apoplexy|Brain Ischemia|Hypertension|Stroke; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; cognitive decline; Fractures, Bone|Osteoporosis; cholesterol, HDL; cholesterol, LDL; apoA1; apoB; frontotemporal dementia; cholesterol, HDL triglycerides; Dyslipidemias|Nephrotic Syndrome; Cardiovascular Diseases|; Atherosclerosis|Cerebrovascular Disorders|Myocardial Ischemia; Wilsons disease; sleep disorders; Alzheimer Disease|Lewy Body Disease; Hyperlipoproteinemia Type III|Hypertriglyceridemia; Brain imaging ; Alzheimer Disease|Alzheimer's Disease|Dementia, Vascular; Pre-Eclampsia; Coronary Disease|Coronary heart disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Abortion, Habitual|Venous Thrombosis; Cerebral Hemorrhage|Cerebral Hemorrhages|Cerebrovascular Disorders|Hypertension; Dementia, Vascular; familial age-related macular degeneration.; ischemia; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; fetal loss, late; bone mineral density; cognitive function executive function memory disturbance; Dementia|Diseases in Twins; Thrombosis; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Alzheimer Disease|Alzheimer's Disease|Amyloidosis; Cerebral Hemorrhage|Cerebral Hemorrhages|Dementia, Vascular; high coronary heart disease risk particularly affects ser; cerebral amyloid angiopathy; senile plaques; progressive supranuclear palsy; nephropathy, diabetic; altered brain levels of apolipoprotein E; HDL Cholesterol; cholesterol, HDL cholesterol, LDL; Epilepsy|Seizures, Febrile; Alzheimer Disease|Alzheimer's Disease|Cerebrovascular Disorders; Alzheimer Disease|Alzheimer's Disease|Cerebrovascular Disorders|Dementia, Vascular; Cardiovascular Diseases|Hyperlipidemias|Hypertension|Obesity|Sleep Apnea, Obstructive; familial and sporadic frontotemporal dementia; HIV Infections; Neoplasms; Brain Injuries|Memory Disorders; Coronary Disease|Coronary heart disease|Hypertriglyceridemia|Pregnancy Complications|Weight Gain; Cardiovascular Diseases|Dementia; Sudden Infant Death; Akathisia, Drug-Induced; abnormal lipid profile; cognitive function; Chlamydophila Infections|Coronary Disease; aging; Delirium; left-handedness and visuospatial skills; Alzheimer Disease|Cardiovascular Diseases|Colorectal Neoplasms|Macular Degeneration; Arteriosclerosis; Alzheimer Disease|Alzheimer's Disease|Disorders of Excessive Somnolence|Memory Disorders; Arteriosclerosis|Cardiovascular Diseases; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Alzheimer Disease|Alzheimer's Disease|Drug Toxicity|Edema|Nasopharyngitis; Cardiovascular Diseases|Macular Degeneration; Triglycerides; Lipid Metabolism; cognitive impairment; aneurysmal subarachnoid hemorrhage.; diabetes, type 2; Alzheimer Disease|Atrophy|; Hypertension|Myocardial ischemia; Cholesterol, total; Alzheimer Disease|Alzheimer's Disease|Glaucoma, Open-Angle; Neurodegenerative Diseases; ischaemic stroke; Alzheimer's Disease; age-related macular degeneration; nephropathy in other diseases; Atherosclerosis|Cerebral Infarction|Stroke; Brain Injuries|Intracranial Hypertension; mood disorders; Hypertension/complications*; Diabetes Mellitus|Hypertension|Stroke; heart disease; C-reactive protein; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Alzheimer Disease|Alzheimer's Disease|Down Syndrome|Olfaction Disorders; Craniocerebral Trauma|Injuries, Craniocerebral; Behcet Syndrome; Apoplexy|Brain Ischemia|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Disorder of muscle, unspec|Hypercholesterolemia|Muscular Diseases; Brain Injuries|Fatigue|Sleep Disorders; longevity; lipid metabolism; Alzheimer's disease - Galantamine response; hyperlipidemia; lipoprotein glomerulopathy; Alzheimer Disease|Aphasia|Atrophy|Syndrome; Inflammation|Memory Disorders; Atrophy|Brain Diseases; Myocardial ischemia; Coronary Disease|Coronary heart disease|Postoperative Complications; Metabolic Syndrome X; Age-associated memory impairment (AAMI); Lipids; Alzheimer's disease; NEUROLOGICALenerative disease; preeclamptic pregnancies; Coronary Disease; Hypertension|Stroke; AIDS Dementia Complex|HIV Infections; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Coronary Disease|Coronary heart disease|Hypertriglyceridemia; Hyperlipidemias|Obesity; Diseases in Twins|Obstetric Labor, Premature; Cytomegalovirus Infections|Herpes Simplex|Herpes Simplex Infections; cholesterol; apoA-IV; apoE; triacylglycerols; Alzheimer's disease; mild dyslipidemia; stroke; cholesterol cholesterol, HDL cholesterol, LDL fatty acid glucose insulin lipoprotein triacylglycerols; Alzheimer Disease|Olfaction Disorders; quantitative traits; Cerebral Hemorrhage|Cerebral Hemorrhages|Cerebral Infarction; Hypertriglyceridemia|Liver Cirrhosis, Alcoholic; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Metabolic Syndrome X; Dementia, Vascular|Vascular Diseases; Apoplexy|Memory Disorders|Stroke; Coronary Artery Disease|Hypertension; Carbon Monoxide Poisoning; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; Alzheimer's disease; vascular dementia; Atherosclerosis; Myasthenia Gravis; HIV; Epilepsy, Temporal Lobe|Memory Disorders; Hepatitis C, Chronic|Liver Cirrhosis|Recurrence; Genetic Diseases, Inborn|Syndrome|Tetralogy of Fallot; obesity; hypercholesterolemia; Parkinson's disease; dementia; hallucinations; Diabetes Mellitus, Type 2|Diabetic Nephropathies; Colitis, Ulcerative; Dystonia|Psychomotor Disorders|Syndrome; Alzheimer's disease (late onset); Dementia|Disease Progression; Brain Concussion|Brain Injuries|Brain Ischemia; Migraine Disorders|Migraine with Aura|Migraine without Aura|Tension-Type Headache; Myositis, Inclusion Body; Alzheimer's disease|Type 2 diabetes; C-reactive protein cholesterol, LDL lipoprotein; Guillain-Barre syndrome; Traumatic Brain Imjury; Alzheimer Disease|Psychomotor Agitation; normal variation; Brain Injuries; Obesity; Atrophy; Athletic Injuries|Brain Concussion|; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Hyperlipidemias; coronary artery disease; traumatic brain injury.; Parkinson's disease ; Carcinoma, Renal Cell|Kidney Neoplasms; Spinal Cord Diseases|Spondylosis; warfarin response; Psychomotor Agitation; Amnesia|Memory Disorders; Coronary Disease|Hyperlipidemias; Brain Injuries|Closed head injuries|Head Injuries, Closed; Alzheimer Disease|Alzheimer's Disease|Cerebral Amyloid Angiopathy; Brain Ischemia|Hemorrhage; Alzheimer Disease|Dementia; Cholesterol, LDL; cholelithiasis; Severe Malaria; cholesterol, HDL; cholesterol, LDL; lathosterol; cognitive ability; early onset ischemic heart disease.; Nerve Degeneration; Brain Edema|Cerebral Hemorrhage|; Cardiovascular Diseases|Obesity; Birth Weight; Confusion|Epilepsy, Temporal Lobe|Sclerosis|Seizures; Birth Weight|Congenital Abnormalities|Heart Defects, Congenital|Postoperative Complications|Syndrome; Cardiovascular Diseases|Hyperlipoproteinemia Type II; Alzheimer Disease|Alzheimer's Disease|Atrophy; Heart Arrest; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure|kidney; failure; Fetal Nutrition Disorders|Hypercholesterolemia; Cerebral Amyloid Angiopathy|Cerebral Hemorrhage|Cerebral Hemorrhages; Alzheimer Disease|Alzheimer's Disease|Dementia|Dementia, Vascular|Lewy Body Disease|Neurodegenerative Diseases; Brain Injuries|Dementia; diabetes, type 2; diabetic nephropathy; atherosclerosis, coronary; lipoprotein; Hyperhomocysteinemia|Lewy Body Disease|Psychomotor Disorders; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; Heart Diseases|Hypercholesterolemia|Hypertension; Anticipation, Genetic|Myocardial Ischemia; Cardiovascular Diseases|Lupus Erythematosus, Systemic; Epilepsy, Temporal Lobe; Coronary Disease|Coronary heart disease|Familial type 3 hyperlipoproteinaemia|Hyperinsulinism|Hyperlipoproteinemia Type III|Peripheral Vascular Diseases; Dementia|Disease Susceptibility; Coronary Restenosis|Myocardial Infarction|Thrombosis; heart disease, ischemic; Ischaemic Stroke; diabetes, type 1; carotid atherosclerosis; Encephalitis; Fatty Liver|Hepatitis; Glaucoma, Open-Angle; cognitive performance; Dementia|Hyperhomocysteinemia|Vascular Diseases; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; prostate cancer; Xanthomatosis; Gallbladder Diseases; apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]; chronic obstructive pulmonary disease/COPD; neuropathy, Alzheimer's disease related; sporadic inclusion body myositis; hypertriglyceridemia; memory decline; Lead Poisoning, Nervous System, Adult; obstructive sleep apnea; Alzheimer Disease|Alzheimer's Disease|Dementia|Dementia, Vascular; Perceptual Disorders; Carotid artery stenosis|Carotid Stenosis; Sleep Apnea, Obstructive; Alzheimer Disease|Alzheimer's Disease|Aphasia, Primary Progressive|Dementia|Memory Disorders|Neurodegenerative Diseases; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Myocardial Infarction|Shock, Cardiogenic; Hepatitis C, Chronic; Alcohol Amnestic Disorder|Alcohol-Related Disorders|Alcoholism|Substance Withdrawal Syndrome; triglycerides; life expectancy; hepatitis C; cholesterol, HDL; cholesterol, LDL; cholesterol, total; frontotemporal lobar degeneration; cardiovascular disease; periodontal disease; Alzheimer Disease; Lewy Body Disease; Coronary Disease|Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction; Fractures, Bone|Osteoporosis|Osteoporosis, Postmenopausal; Alzheimer Disease|Alzheimer's Disease; Heart Diseases; Hyperhomocysteinemia|Hyperlipidemias; Plaque, Amyloid; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; autism; hypercholesterolemia; cholesterol, LDL; Dementia|Olfaction Disorders; Atrophy|Multiple Sclerosis, Relapsing-Remitting; Leukemia, Lymphocytic, Chronic, B-Cell; plasma lipoprotein traits; Coronary Disease|Coronary heart disease; Atrial Fibrillation|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Neuropathies; exfoliation syndrome; Alzheimer's disease apolipoprotein E levels; Coronary Artery Disease|; memory function; Insulin Resistance|Obesity; Brain Ischemia|Cerebral Infarction|Intracranial Aneurysm|Subarachnoid Hemorrhage; Alzheimer Disease|Dementia|Hypothyroidism|Memory Disorders; Coronary Stenosis|Hypertrophy, Left Ventricular|Sclerosis; Schizophrenia; Alzheimer Disease|Alzheimer's Disease|Dementia|Dementia, Vascular|Neurodegenerative Diseases; Spina Bifida Cystica; Brain Ischemia|Dementia; Angina pectoris; Body Weight; Colonic Neoplasms|Colorectal Neoplasms|Rectal Neoplasms; Cardiovascular Diseases|Dementia|Diabetes mellitus|Hypercholesterolemia|Pancreatitis; Dyslipidemias|Metabolic Syndrome X|Obesity; increased wall thickness of carotid and femoral arteries; Diabetes Mellitus, Type 2; Dementia|Memory Disorders; Autism; Apoplexy|Myocardial Infarction|Myocardial ischemia|Stroke; Apoplexy|Myocardial ischemia|Stroke; Cholelithiasis; Down Syndrome|Trisomy; Dementia|Hyperlipidemias; Hypertriglyceridemia|Pre-Eclampsia; retinopathy, diabetic; glaucoma; early onset temporal lobe epilepsy.; Cardiovascular Diseases|Diabetes Mellitus, Type 2|Hypercholesterolemia|Hyperlipidemias|Hypertension|Obesity; Sjogren's Syndrome; Severe type III hyperlipoproteinemia; episodic memory; Hypertension|Pregnancy Complications, Cardiovascular; Epilepsy, Post-Traumatic|Seizures; Alzheimer Disease|Alzheimer's Disease|Myocardial ischemia; Alzheimer Disease|Alzheimer's Disease|Dementia|Memory Disorders; Brain Injuries|Seizures; Cerebral Infarction; differential expansion rates of small abdominal aortic aneurysms; glaucoma, primary open-angle; anti-atherogenic lipoprotein profile; attention deficit disorder conduct disorder oppositional defiant disorder; Selenium; Colonic Neoplasms|Microsatellite Instability; Herpesviridae Infections; mild cognitive impairment; Apoplexy|Atherosclerosis|Cerebral Infarction|Stroke; Congenital Heart Defects|Heart Defects, Congenital; Coronary Disease|Coronary heart disease|Dyslipidemias; Hyperlipidemia, Familial Combined|Mixed hyperlipidemia; Aortic Valve Stenosis|Calcinosis|Diabetes mellitus|Hyperlipidemias|Hypertension|Mitral Valve Stenosis; lipoprotein distribution of ApoC-I; spinal muscular atrophy; cerebral amyloid angiopathy; lipoprotein; type III hyperlipoproteinemia; Dementia|; Subarachnoid Hemorrhage; Alzheimer Disease|Atrophy; Angina pectoris|Coronary Disease|Coronary heart disease|Myocardial Infarction; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Hyperlipidemias; Apoplexy|Brain Ischemia|Cerebral Hemorrhage|Cerebral Hemorrhages|Stroke; Kidney Failure|kidney; failure; Alcohol Withdrawal Seizures|Alcoholism|Recurrence; Atherosclerosis|Chronic renal failure|Kidney Failure, Chronic; Hypertriglyceridemia|Metabolic Syndrome X; bulbar-onset motor neuron disease; angiographic coronary artery disease; Parkinson's disease; Alzheimer`s Disease; Hypertriglyceridemia|Pancreatitis|Recurrence; rapid motor decline; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; Metabolic Syndrome X|Obesity, Abdominal; Alzheimer Disease|Alzheimer's Disease|Brain Infarction|Cerebrovascular Disorders; dominant type III hyperlipoproteinemia; Stroke; lipid levels; Coronary Artery Disease; Alzheimer Disease|Alzheimer's Disease|Cardiovascular Diseases|Chronic Disease; Diarrhea; Athletic Injuries|Brain Concussion; Amyloidosis|Arthritis, Rheumatoid|Rheumatoid Arthritis; Alcoholism; Chronic progressive chorea|Huntington Disease; anticholinergic challenge-induced memory impairment; serum lipids; posterior cortical atrophy; smoking; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein; Temporal Lobe Epilepsy; Alzheimer`s disease; Hypertriglyceridemia; Alzheimer Disease|Cerebrovascular Disorders|; inflammatory bowel disease; Aneurysm, Ruptured|Intracranial Aneurysm|Recurrence|Subarachnoid Hemorrhage; Hearing Loss, Sensorineural|Sensorineural Hearing Loss; Acquired Immunodeficiency Syndrome|Kaposi Sarcoma|Lymphoma, AIDS-Related|Sarcoma, Kaposi; Dyslipidemias	Mutations at this locus cause diet-induced hypercholesterolemia and atherosclerosis. Homozygous null mutants also develop foam-cell rich deposits in proximal aorta, impaired blood-nerve and blood-brain barriers, and many xanthomatous lesions.	Retinoid metabolism and transport	GO:0000302;response to reactive oxygen species;NAS|GO:0001523;retinoid metabolic process;TAS|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0002021;response to dietary excess;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IDA|GO:0006707;cholesterol catabolic process;IBA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006979;response to oxidative stress;IEA|GO:0007010;cytoskeleton organization;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007263;nitric oxide mediated signal transduction;IDA|GO:0007271;synaptic transmission, cholinergic;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010544;negative regulation of platelet activation;IDA|GO:0010873;positive regulation of cholesterol esterification;IDA|GO:0010875;positive regulation of cholesterol efflux;IDA|GO:0010877;lipid transport involved in lipid storage;ISS|GO:0010976;positive regulation of neuron projection development;IDA|GO:0010977;negative regulation of neuron projection development;IDA|GO:0015909;long-chain fatty acid transport;IDA|GO:0017038;protein import;IDA|GO:0019068;virion assembly;IMP|GO:0019433;triglyceride catabolic process;IBA|GO:0019934;cGMP-mediated signaling;IDA|GO:0030195;negative regulation of blood coagulation;IDA|GO:0030516;regulation of axon extension;TAS|GO:0030828;positive regulation of cGMP biosynthetic process;IDA|GO:0031102;neuron projection regeneration;IBA|GO:0032269;negative regulation of cellular protein metabolic process;IGI|GO:0032489;regulation of Cdc42 protein signal transduction;IDA|GO:0032805;positive regulation of low-density lipoprotein particle receptor catabolic process;IDA|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034371;chylomicron remodeling;TAS|GO:0034372;very-low-density lipoprotein particle remodeling;IDA|GO:0034374;low-density lipoprotein particle remodeling;IEA|GO:0034375;high-density lipoprotein particle remodeling;TAS|GO:0034378;chylomicron assembly;TAS|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034382;chylomicron remnant clearance;TAS|GO:0034384;high-density lipoprotein particle clearance;IDA|GO:0034447;very-low-density lipoprotein particle clearance;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042159;lipoprotein catabolic process;IBA|GO:0042311;vasodilation;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0042982;amyloid precursor protein metabolic process;IDA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043407;negative regulation of MAP kinase activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IBA|GO:0043537;negative regulation of blood vessel endothelial cell migration;IDA|GO:0043687;post-translational protein modification;TAS|GO:0043691;reverse cholesterol transport;IDA|GO:0044267;cellular protein metabolic process;TAS|GO:0044794;positive regulation by host of viral process;IMP|GO:0045541;negative regulation of cholesterol biosynthetic process;IDA|GO:0045807;positive regulation of endocytosis;IDA|GO:0046889;positive regulation of lipid biosynthetic process;IDA|GO:0046907;intracellular transport;TAS|GO:0048168;regulation of neuronal synaptic plasticity;TAS|GO:0048844;artery morphogenesis;IEA|GO:0050728;negative regulation of inflammatory response;IC|GO:0051000;positive regulation of nitric-oxide synthase activity;IDA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051651;maintenance of location in cell;IEA|GO:0055088;lipid homeostasis;IEA|GO:0055089;fatty acid homeostasis;IDA|GO:0060999;positive regulation of dendritic spine development;IDA|GO:0070328;triglyceride homeostasis;ISS|GO:0072358;cardiovascular system development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090209;negative regulation of triglyceride metabolic process;IEA|GO:0097006;regulation of plasma lipoprotein particle levels;IEA|GO:0097113;AMPA glutamate receptor clustering;IDA|GO:0097114;NMDA glutamate receptor clustering;IDA|GO:0098869;cellular oxidant detoxification;IEA|GO:1900221;regulation of beta-amyloid clearance;IDA|GO:1900272;negative regulation of long-term synaptic potentiation;IDA|GO:1901215;negative regulation of neuron death;IDA|GO:1901628;positive regulation of postsynaptic membrane organization;IDA|GO:1901630;negative regulation of presynaptic membrane organization;IDA|GO:1902430;negative regulation of beta-amyloid formation;IDA|GO:1902952;positive regulation of dendritic spine maintenance;IDA|GO:1902995;positive regulation of phospholipid efflux;IDA|GO:1903002;positive regulation of lipid transport across blood brain barrier;IDA|GO:1905855;positive regulation of heparan sulfate binding;IDA|GO:1905860;positive regulation of heparan sulfate proteoglycan binding;IDA|GO:1905890;regulation of cellular response to very-low-density lipoprotein particle stimulus;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005623;cell;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;TAS|GO:0005769;early endosome;TAS|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030425;dendrite;NAS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0031012;extracellular matrix;IDA|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034362;low-density lipoprotein particle;IDA|GO:0034363;intermediate-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0042627;chylomicron;IDA|GO:0043025;neuronal cell body;NAS|GO:0070062;extracellular exosome;IDA|GO:0071682;endocytic vesicle lumen;TAS|GO:0072562;blood microparticle;IDA|GO:1903561;extracellular vesicle;IDA	GO:0001540;beta-amyloid binding;IDA|GO:0005319;lipid transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008201;heparin binding;IDA|GO:0008289;lipid binding;IDA|GO:0015485;cholesterol binding;IBA|GO:0016209;antioxidant activity;IDA|GO:0017127;cholesterol transporter activity;IBA|GO:0042802;identical protein binding;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0046911;metal chelating activity;IDA|GO:0048156;tau protein binding;IPI|GO:0050750;low-density lipoprotein particle receptor binding;IDA|GO:0060228;phosphatidylcholine-sterol O-acyltransferase activator activity;IDA|GO:0070326;very-low-density lipoprotein particle receptor binding;IDA|GO:0071813;lipoprotein particle binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/APOE	https://www.uniprot.org/uniprot/P02649	https://hpo.jax.org/app/browse/search?q=APOE&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=107741	http://www.informatics.jax.org/searchtool/Search.do?query=APOE&submit=Quick%0D%6331ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APOE	rs440446	0.626198	0	0.5873	0.14	1	7	exonic	intronic	exonic	APOE	APOE	ENSG00000130203	nonsynonymous SNV	Na	unknown	APOE:NM_001302688:exon1:c.C42G:p.N14K,	Na	UNKNOWN	Het;C>G	532;49|27	Het;C>G	723;25|33	Hom;C>G	1275;1|49
N	N	-	19	45496303	45496303	T	C	snp	nonsynonymous SNV	T650C	M217T	hydrophobic,neutral	polar,hydrophilic,neutral	CLPTM1	Clptm1	ENSG00000104853	CLPTM1, transmembrane protein	chr19:45457842-45496599		cleft lip with cleft palate; cleft lip without cleft palate; cleft palate; oral clefts; Cleft Lip|Cleft Palate; cleft lip with cleft palate; cleft lip without cleft palate; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity	 		GO:0007275;multicellular organism development;TAS|GO:0030154;cell differentiation;IEA|GO:0033081;regulation of T cell differentiation in thymus;ISS	GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;ISS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CLPTM1	https://www.uniprot.org/uniprot/O96005		https://www.ncbi.nlm.nih.gov/omim/?term=604783	http://www.informatics.jax.org/searchtool/Search.do?query=CLPTM1&submit=Quick%0D%3179ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLPTM1	rs9193	0.872604	0.8913	0.8554	0.25	1	4	UTR3	exonic	exonic	CLPTM1(NM_001282176:c.*148T>C,NM_001282175:c.*148T>C,NM_001294:c.*148T>C)	CLPTM1	ENSG00000104853	Na	nonsynonymous SNV	unknown	Na	CLPTM1:uc021uvo.1:exon2:c.T650C:p.M217T,	UNKNOWN	Het;T>C	93;5|4	Ref		Hom;T>C	77;0|3
N	N	-	19	464310	464310	A	G	snp	nonsynonymous SNV	T404C	V135A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ODF3L2	Odf3l2	ENSG00000181781	outer dense fiber of sperm tails 3 like 2	chr19:463346-474983			 			GO:0005881;cytoplasmic microtubule;IDA		http://www.genecards.org/index.php?path=/Search/keyword/ODF3L2				http://www.informatics.jax.org/searchtool/Search.do?query=ODF3L2&submit=Quick%0D%14668ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ODF3L2	rs34551779	0.436901	0.3579	0.4168	0.08	1	13	exonic	exonic	exonic	ODF3L2	ODF3L2	ENSG00000181781	nonsynonymous SNV	nonsynonymous SNV	unknown	ODF3L2:NM_182577:exon4:c.T404C:p.V135A,	ODF3L2:uc002lor.3:exon4:c.T404C:p.V135A,ODF3L2:uc010drp.3:exon3:c.T296C:p.V99A,	UNKNOWN	Het;A>G	1456;66|58	Het;A>G	1107;51|42	Hom;A>G	2545;0|82
N	N	-	19	47342867	47342867	A	C	snp	nonsynonymous SNV	T164G	I55S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	AP2S1	Ap2s1	ENSG00000042753	adaptor related protein complex 2 sigma 1 subunit	chr19:47341393-47354249	One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	HYPOCALCIURIC HYPERCALCEMIA FAMILIAL TYPE III	 	LDL clearance	GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006897;endocytosis;IEA|GO:0007018;microtubule-based movement;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030100;regulation of endocytosis;TAS|GO:0032802;low-density lipoprotein particle receptor catabolic process;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048268;clathrin coat assembly;TAS|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061024;membrane organization;TAS|GO:0072583;clathrin-dependent endocytosis;TAS	GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0030117;membrane coat;IEA|GO:0030122;AP-2 adaptor complex;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0036020;endolysosome membrane;TAS	GO:0005215;transporter activity;NAS|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IEA|GO:0035615;clathrin adaptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/AP2S1	https://www.uniprot.org/uniprot/P53680	https://hpo.jax.org/app/browse/search?q=AP2S1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602242	http://www.informatics.jax.org/searchtool/Search.do?query=AP2S1&submit=Quick%0D%837ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP2S1	rs312185	0.590655	0.5104	0.4941	0.25	1	4	exonic	intronic	exonic	AP2S1	AP2S1	ENSG00000042753	nonsynonymous SNV	Na	unknown	AP2S1:NM_001301078:exon3:c.T164G:p.I55S,	Na	UNKNOWN	Het;A>C	998;72|45	Het;A>C	1459;43|67	Hom;A>C	2996;0|112
N	N	-	19	48042976	48042976	C	T	snp	nonsynonymous SNV	G2782A	G928R	aliphatic,neutral	polar,hydrophilic,charged(+)	ZNF541	Zfp541	ENSG00000118156	zinc finger protein 541	chr19:48023942-48059113			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0000118;histone deacetylase complex;IEA|GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF541	https://www.uniprot.org/uniprot/Q9H0D2			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF541&submit=Quick%0D%4944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF541	rs12972658	0.148562	0.0999	0.1495	0.46	6	13	exonic	exonic	exonic	ZNF541	ZNF541	ENSG00000118156	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF541:NM_001277075:exon6:c.G2782A:p.G928R,	ZNF541:uc010xyt.3:exon6:c.G2782A:p.G928R,ZNF541:uc010eli.4:exon4:c.G2224A:p.G742R,ZNF541:uc002phg.5:exon6:c.G2782A:p.G928R,	UNKNOWN	Het;C>T	1393;75|64	Ref		Hom;C>T	2742;4|100
N	N	-	19	48525507	48525507	G	A	snp	nonsynonymous SNV	G595A	E199K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	ELSPBP1		ENSG00000169393	epididymal sperm binding protein 1	chr19:48497908-48528410	The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008]	Intelligence; Body Mass Index			GO:0007338;single fertilization;IEA|GO:0048240;sperm capacitation;IBA	GO:0005576;extracellular region;IEA|GO:0009986;cell surface;IBA	GO:0008201;heparin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ELSPBP1			https://www.ncbi.nlm.nih.gov/omim/?term=607443	http://www.informatics.jax.org/searchtool/Search.do?query=ELSPBP1&submit=Quick%0D%12483ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELSPBP1	rs2303690	0.685304	0.5827	0.6144	0.08	1	13	exonic	exonic	exonic	ELSPBP1	ELSPBP1	ENSG00000169393	nonsynonymous SNV	nonsynonymous SNV	unknown	ELSPBP1:NM_022142:exon6:c.G595A:p.E199K,	ELSPBP1:uc002pht.3:exon6:c.G595A:p.E199K,	UNKNOWN	Het;G>A	1648;95|78	Ref		Hom;G>A	3615;0|130
N	N	-	19	49377319	49377319	A	G	snp	nonsynonymous SNV	A829G	K277E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	PPP1R15A	Ppp1r15a	ENSG00000087074	protein phosphatase 1 regulatory subunit 15A	chr19:49375649-49379314	This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; longevity	Homozygous mutant mice show abnormal cellular responses to either ER- or oxidative- stress.	Downregulation of TGF-beta receptor signaling	GO:0006417;regulation of translation;IEA|GO:0006915;apoptotic process;TAS|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0007050;cell cycle arrest;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0032058;positive regulation of translational initiation in response to stress;IC|GO:0032515;negative regulation of phosphoprotein phosphatase activity;IDA|GO:0032516;positive regulation of phosphoprotein phosphatase activity;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IEA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0035308;negative regulation of protein dephosphorylation;IDA|GO:0036496;regulation of translational initiation by eIF2 alpha dephosphorylation;IDA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IEA|GO:0060734;regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;TAS|GO:0070262;peptidyl-serine dephosphorylation;IEA|GO:0070972;protein localization to endoplasmic reticulum;IMP|GO:1902310;positive regulation of peptidyl-serine dephosphorylation;IDA|GO:1903573;negative regulation of response to endoplasmic reticulum stress;IEA|GO:1903898;negative regulation of PERK-mediated unfolded protein response;TAS|GO:1903912;negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation;IEA|GO:1903917;positive regulation of endoplasmic reticulum stress-induced eIF2 alpha dephosphorylation;IDA|GO:1990441;negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress;IEA	GO:0000164;protein phosphatase type 1 complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;NAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0008157;protein phosphatase 1 binding;IDA|GO:0019888;protein phosphatase regulator activity;IC|GO:0019901;protein kinase binding;IPI|GO:0019903;protein phosphatase binding;IEA|GO:0072542;protein phosphatase activator activity;IC	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R15A	https://www.uniprot.org/uniprot/O75807		https://www.ncbi.nlm.nih.gov/omim/?term=611048	http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R15A&submit=Quick%0D%1945ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R15A	rs610308	0.444888	0.4842	0.3678	0.08	1	13	exonic	exonic	exonic	PPP1R15A	PPP1R15A	ENSG00000087074	nonsynonymous SNV	nonsynonymous SNV	unknown	PPP1R15A:NM_014330:exon2:c.A829G:p.K277E,	PPP1R15A:uc002pky.4:exon2:c.A829G:p.K277E,	UNKNOWN	Het;A>G	2934;99|120	Ref		Hom;A>G	5319;0|188
N	N	-	19	49573438	49573438	A	G	snp	nonsynonymous SNV	T1253C	M418T	hydrophobic,neutral	polar,hydrophilic,neutral	KCNA7	Kcna7	ENSG00000104848	potassium voltage-gated channel subfamily A member 7	chr19:49570675-49576198	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]	diabetes, type 2	 	Voltage gated Potassium channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051260;protein homooligomerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KCNA7	https://www.uniprot.org/uniprot/Q96RP8		https://www.ncbi.nlm.nih.gov/omim/?term=176268	http://www.informatics.jax.org/searchtool/Search.do?query=KCNA7&submit=Quick%0D%3177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNA7	rs1017219	0.366014	0.3853	0.3678	0.31	4	13	exonic	exonic	exonic	KCNA7	KCNA7	ENSG00000104848	nonsynonymous SNV	nonsynonymous SNV	unknown	KCNA7:NM_031886:exon2:c.T1253C:p.M418T,	KCNA7:uc002pmg.3:exon2:c.T1253C:p.M418T,	UNKNOWN	Het;A>G	1460;65|65	Het;A>G	1118;74|55	Hom;A>G	2648;0|98
N	N	-	19	49574125	49574125	G	C	snp	nonsynonymous SNV	C566G	P189R	hydrophobic,neutral	polar,hydrophilic,charged(+)	KCNA7	Kcna7	ENSG00000104848	potassium voltage-gated channel subfamily A member 7	chr19:49570675-49576198	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]	diabetes, type 2	 	Voltage gated Potassium channels	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051260;protein homooligomerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KCNA7	https://www.uniprot.org/uniprot/Q96RP8		https://www.ncbi.nlm.nih.gov/omim/?term=176268	http://www.informatics.jax.org/searchtool/Search.do?query=KCNA7&submit=Quick%0D%3177ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNA7	rs1611775	0.367212	0.3841	0.3740	0.23	3	13	exonic	exonic	exonic	KCNA7	KCNA7	ENSG00000104848	nonsynonymous SNV	nonsynonymous SNV	unknown	KCNA7:NM_031886:exon2:c.C566G:p.P189R,	KCNA7:uc002pmg.3:exon2:c.C566G:p.P189R,	UNKNOWN	Het;G>C	1050;59|48	Het;G>C	946;43|45	Hom;G>C	2550;0|94
N	N	-	19	49869051	49869051	T	G	snp	nonsynonymous SNV	T101G	M34R	hydrophobic,neutral	polar,hydrophilic,charged(+)	DKKL1	Dkkl1	ENSG00000104901	dickkopf like acrosomal protein 1	chr19:49865040-49878373	The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010]	Multiple Sclerosis	Mice homozygous for a null allele exhibit increased sperm count associated with decreased sperm apoptosis. Mice homozygous for a different knock-out allele exhibit decreased fertilization frequency in vitro and delayed fertilizatio in vivo.		GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0045600;positive regulation of fat cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS	GO:0004871;signal transducer activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DKKL1	https://www.uniprot.org/uniprot/Q9UK85		https://www.ncbi.nlm.nih.gov/omim/?term=605418	http://www.informatics.jax.org/searchtool/Search.do?query=DKKL1&submit=Quick%0D%38ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DKKL1	rs2303759	0.318291	0.2725	0.2947	0.46	6	13	exonic	exonic	exonic	DKKL1	DKKL1	ENSG00000104901	nonsynonymous SNV	nonsynonymous SNV	unknown	DKKL1:NM_001197302:exon4:c.T101G:p.M34R,DKKL1:NM_014419:exon4:c.T326G:p.M109R,	DKKL1:uc021uxk.1:exon4:c.T101G:p.M34R,DKKL1:uc002pnk.3:exon4:c.T326G:p.M109R,	UNKNOWN	Het;T>G	1321;61|55	Het;T>G	1265;62|53	Hom;T>G	3026;4|105
N	N	-	19	49878115	49878115	G	A	snp	nonsynonymous SNV	G334A	G112S	aliphatic,neutral	polar,hydrophilic,neutral	DKKL1	Dkkl1	ENSG00000104901	dickkopf like acrosomal protein 1	chr19:49865040-49878373	The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010]	Multiple Sclerosis	Mice homozygous for a null allele exhibit increased sperm count associated with decreased sperm apoptosis. Mice homozygous for a different knock-out allele exhibit decreased fertilization frequency in vitro and delayed fertilizatio in vivo.		GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0045600;positive regulation of fat cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS	GO:0004871;signal transducer activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DKKL1	https://www.uniprot.org/uniprot/Q9UK85		https://www.ncbi.nlm.nih.gov/omim/?term=605418	http://www.informatics.jax.org/searchtool/Search.do?query=DKKL1&submit=Quick%0D%38ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DKKL1	rs1054770	0.316094	0.2659	0.2958	0.08	1	13	exonic	exonic	exonic	DKKL1	DKKL1	ENSG00000104901	nonsynonymous SNV	nonsynonymous SNV	unknown	DKKL1:NM_001197302:exon5:c.G334A:p.G112S,DKKL1:NM_014419:exon5:c.G559A:p.G187S,DKKL1:NM_001197301:exon4:c.G466A:p.G156S,	DKKL1:uc021uxk.1:exon5:c.G334A:p.G112S,DKKL1:uc002pnk.3:exon5:c.G559A:p.G187S,DKKL1:uc021uxl.1:exon4:c.G466A:p.G156S,	UNKNOWN	Het;G>A	1881;61|72	Het;G>A	1758;64|79	Hom;G>A	3430;2|126
N	N	-	19	49878196	49878196	G	A	snp	nonsynonymous SNV	G415A	E139K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	DKKL1	Dkkl1	ENSG00000104901	dickkopf like acrosomal protein 1	chr19:49865040-49878373	The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010]	Multiple Sclerosis	Mice homozygous for a null allele exhibit increased sperm count associated with decreased sperm apoptosis. Mice homozygous for a different knock-out allele exhibit decreased fertilization frequency in vitro and delayed fertilizatio in vivo.		GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0045600;positive regulation of fat cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS	GO:0004871;signal transducer activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DKKL1	https://www.uniprot.org/uniprot/Q9UK85		https://www.ncbi.nlm.nih.gov/omim/?term=605418	http://www.informatics.jax.org/searchtool/Search.do?query=DKKL1&submit=Quick%0D%38ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DKKL1	rs2288481	0.258387	0.2204	0.2498	0.38	5	13	exonic	exonic	exonic	DKKL1	DKKL1	ENSG00000104901	nonsynonymous SNV	nonsynonymous SNV	unknown	DKKL1:NM_001197302:exon5:c.G415A:p.E139K,DKKL1:NM_014419:exon5:c.G640A:p.E214K,DKKL1:NM_001197301:exon4:c.G547A:p.E183K,	DKKL1:uc021uxk.1:exon5:c.G415A:p.E139K,DKKL1:uc002pnk.3:exon5:c.G640A:p.E214K,DKKL1:uc021uxl.1:exon4:c.G547A:p.E183K,	UNKNOWN	Het;G>A	2541;95|113	Het;G>A	2461;99|110	Hom;G>A	6218;2|228
N	N	-	19	49899076	49899076	G	A	snp	nonsynonymous SNV	G386A	R129Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	CCDC155	Ccdc155	ENSG00000161609	coiled-coil domain containing 155	chr19:49891475-49921251			Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks.		GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0007015;actin filament organization;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0034397;telomere localization;IEA|GO:0048477;oogenesis;IEA|GO:0051225;spindle assembly;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0090220;chromosome localization to nuclear envelope involved in homologous chromosome segregation;IEA	GO:0000781;chromosome, telomeric region;IEA|GO:0000800;lateral element;IEA|GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034993;LINC complex;IEA|GO:0090619;meiotic spindle pole;IEA	GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA|GO:0070840;dynein complex binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCDC155				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC155&submit=Quick%0D%10587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC155	rs10405154	0.529153	0.5331	0.5963	0.08	1	13	exonic	exonic	exonic	CCDC155	CCDC155	ENSG00000161609	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC155:NM_144688:exon5:c.G386A:p.R129Q,	CCDC155:uc002pnl.2:exon6:c.G386A:p.R129Q,CCDC155:uc002pnm.2:exon5:c.G386A:p.R129Q,CCDC155:uc010emx.2:exon3:c.G305A:p.R102Q,	UNKNOWN	Het;G>A	724;52|38	Het;G>A	812;43|41	Hom;G>A	2781;0|102
N	N	-	19	51520487	51520487	A	C	snp	nonsynonymous SNV	T148G	S50A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	KLK10	Klk10	ENSG00000129451	kallikrein related peptidase 10	chr19:51515995-51523431	Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]	ovarian cancer; prostate cancer; prostate breast testicular and ovarian cancers; breast cancer; prostate cancer; testicular cancer; ovarian cancer; epithelial ovarian cancer 	 		GO:0006508;proteolysis;IEA|GO:0007049;cell cycle;IEA	GO:0005576;extracellular region;TAS	GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLK10	https://www.uniprot.org/uniprot/O43240		https://www.ncbi.nlm.nih.gov/omim/?term=602673	http://www.informatics.jax.org/searchtool/Search.do?query=KLK10&submit=Quick%0D%6248ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLK10	rs3745535	0.694289	0.7364	0.6449	0.17	2	12	exonic	exonic	exonic	KLK10	KLK10	ENSG00000129451	nonsynonymous SNV	nonsynonymous SNV	unknown	KLK10:NM_001077500:exon3:c.T148G:p.S50A,KLK10:NM_145888:exon3:c.T148G:p.S50A,KLK10:NM_002776:exon3:c.T148G:p.S50A,	KLK10:uc002puz.3:exon3:c.T148G:p.S50A,KLK10:uc002pva.3:exon3:c.T148G:p.S50A,KLK10:uc002puy.3:exon3:c.T148G:p.S50A,	UNKNOWN	Het;A>C	1394;81|67	Ref		Hom;A>C	3470;0|133
N	N	-	19	51850290	51850290	G	A	snp	nonsynonymous SNV	C461T	T154M	polar,hydrophilic,neutral	hydrophobic,neutral	ETFB	Etfb	ENSG00000105379	electron transfer flavoprotein beta subunit	chr19:51848423-51869672	This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Lipid Metabolism Disorders|Muscular Diseases	 	Protein methylation	GO:0006479;protein methylation;TAS|GO:0022904;respiratory electron transport chain;TAS|GO:0033539;fatty acid beta-oxidation using acyl-CoA dehydrogenase;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IBA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0009055;electron carrier activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ETFB	https://www.uniprot.org/uniprot/P38117	https://hpo.jax.org/app/browse/search?q=ETFB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=130410	http://www.informatics.jax.org/searchtool/Search.do?query=ETFB&submit=Quick%0D%3291ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ETFB	rs1130426	0.419728	0.5418	0.4980	0.62	8	13	exonic	exonic	exonic	ETFB	ETFB	ENSG00000105379	nonsynonymous SNV	nonsynonymous SNV	unknown	ETFB:NM_001014763:exon4:c.C734T:p.T245M,ETFB:NM_001985:exon5:c.C461T:p.T154M,	ETFB:uc002pwh.3:exon5:c.C461T:p.T154M,ETFB:uc002pwg.3:exon4:c.C734T:p.T245M,	UNKNOWN	Het;G>A	815;36|38	Het;G>A	858;58|45	Hom;G>A	2803;0|106
N	N	-	19	52223121	52223121	A	G	snp	nonsynonymous SNV	T61C	C21R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	HAS1	Has1	ENSG00000105509	hyaluronan synthase 1	chr19:52216365-52227247	Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]	macroglobulinemia	Mice homozygous for a knock-out allele are viable and appear grossly normal.	Hyaluronan biosynthesis and export	GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0007155;cell adhesion;TAS|GO:0010764;negative regulation of fibroblast migration;IMP|GO:0030213;hyaluronan biosynthetic process;IEA|GO:0036120;cellular response to platelet-derived growth factor stimulus;IDA|GO:0044849;estrous cycle;IEA|GO:0045226;extracellular polysaccharide biosynthetic process;IEA|GO:0085029;extracellular matrix assembly;IEA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0050501;hyaluronan synthase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HAS1	https://www.uniprot.org/uniprot/Q92839		https://www.ncbi.nlm.nih.gov/omim/?term=601463	http://www.informatics.jax.org/searchtool/Search.do?query=HAS1&submit=Quick%0D%3321ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAS1	rs7248778	0.812101	0.7509	0.7920	0.08	1	13	exonic	exonic	exonic	HAS1	HAS1	ENSG00000105509	nonsynonymous SNV	nonsynonymous SNV	unknown	HAS1:NM_001297436:exon2:c.T37C:p.C13R,HAS1:NM_001523:exon2:c.T40C:p.C14R,	HAS1:uc002pxn.1:exon1:c.T61C:p.C21R,HAS1:uc002pxo.1:exon2:c.T40C:p.C14R,HAS1:uc002pxp.1:exon2:c.T37C:p.C13R,	UNKNOWN	Het;A>G	1001;34|47	Ref		Hom;A>G	1875;0|73
N	N	-	19	52249947	52249947	C	G	snp	nonsynonymous SNV	G301C	V101L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FPR1	Fpr1	ENSG00000171051	formyl peptide receptor 1	chr19:52248425-52307363	This gene encodes a G protein-coupled receptor of mammalian phagocytic cells that is a member of the G-protein coupled receptor 1 family. The protein mediates the response of phagocytic cells to invasion of the host by microorganisms and is important in host defense and inflammation.[provided by RefSeq, Jul 2010]	periodontitis; Periodontitis; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Inflammation; Aggressive Periodontitis|Periodontal Attachment Loss|Periodontal Pocket; inflammation; HIV	Targeted null mice are viable and developmentally normal but show increased susceptibility to L. monocytogenes challenge, as shown by increased mortality and bacterial burden in liver/spleen early post-infection. Mutant neutrophils fail to respond to fMLF either in calcium flux or chemotaxis assays.	Neutrophil degranulation	GO:0000187;activation of MAPK activity;TAS|GO:0002430;complement receptor mediated signaling pathway;IBA|GO:0006935;chemotaxis;TAS|GO:0006954;inflammatory response;IBA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;TAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IBA|GO:0007263;nitric oxide mediated signal transduction;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0050900;leukocyte migration;IBA|GO:0060326;cell chemotaxis;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030667;secretory granule membrane;TAS|GO:0035577;azurophil granule membrane;TAS|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0004871;signal transducer activity;IEA|GO:0004875;complement receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004982;N-formyl peptide receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0050786;RAGE receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FPR1			https://www.ncbi.nlm.nih.gov/omim/?term=136537	http://www.informatics.jax.org/searchtool/Search.do?query=FPR1&submit=Quick%0D%12836ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FPR1	rs2070745	0.39377	0.3432	0.3891	0.15	2	13	exonic	exonic	exonic	FPR1	FPR1	ENSG00000171051	nonsynonymous SNV	nonsynonymous SNV	unknown	FPR1:NM_002029:exon2:c.G301C:p.V101L,FPR1:NM_001193306:exon3:c.G301C:p.V101L,	FPR1:uc021uyn.1:exon3:c.G301C:p.V101L,FPR1:uc002pxq.3:exon2:c.G301C:p.V101L,FPR1:uc021uyo.1:exon1:c.G301C:p.V101L,	UNKNOWN	Het;C>G	2002;98|83	Ref		Hom;C>G	4461;2|154
N	N	-	19	53793042	53793042	G	A	snp	nonsynonymous SNV	C586T	H196Y	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophobic	BIRC8	Xiap	ENSG00000163098	baculoviral IAP repeat containing 8	chr19:53792856-53794875		longevity	Homozygous null mutants are indistinguishable from normal littermates, but increased levels of protein from other Birc gene family members suggest a compensatory mechanism in the absence of the Birc4 gene's product.		GO:0006915;apoptotic process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IBA|GO:1990001;inhibition of cysteine-type endopeptidase activity involved in apoptotic process;IBA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA	GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0043027;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BIRC8				http://www.informatics.jax.org/searchtool/Search.do?query=BIRC8&submit=Quick%0D%10878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BIRC8	rs8109165	0.5623	0.5961	0.5600	0.17	2	12	exonic	exonic	exonic	BIRC8	BIRC8	ENSG00000163098	nonsynonymous SNV	nonsynonymous SNV	unknown	BIRC8:NM_033341:exon1:c.C586T:p.H196Y,	BIRC8:uc002qbk.3:exon1:c.C586T:p.H196Y,	UNKNOWN	Het;G>A	1930;61|80	Het;G>A	1612;72|74	Hom;G>A	3335;0|114
N	N	-	19	55176262	55176262	A	G	snp	nonsynonymous SNV	A755G	D252G	polar,hydrophilic,charged(-)	aliphatic,neutral	LILRB4	Lilrb4a	ENSG00000278555	leukocyte immunoglobulin like receptor B4	chr19:55155340-55181810	This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	atopy; Atopy; Glucose	Homozygotes for a targeted null mutation exhibit increased sensitivity to IgE-dependent passive cutaneous anaphylaxis and a reduced threshold for antigen challenge in active cutaneous anaphylaxis.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LILRB4			https://www.ncbi.nlm.nih.gov/omim/?term=604821	http://www.informatics.jax.org/searchtool/Search.do?query=LILRB4&submit=Quick%0D%22077ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LILRB4	rs731170	0.61901	0.6061	0.6687	1	0	0	exonic	exonic	exonic	LILRB4	LILRB4	ENSG00000186818	nonsynonymous SNV	nonsynonymous SNV	unknown	LILRB4:NM_001278429:exon4:c.A755G:p.D252G,LILRB4:NM_001278430:exon5:c.A668G:p.D223G,LILRB4:NM_001278428:exon5:c.A668G:p.D223G,LILRB4:NM_001278426:exon5:c.A668G:p.D223G,LILRB4:NM_001278427:exon5:c.A668G:p.D223G,	LILRB4:uc010eru.3:exon4:c.A755G:p.D252G,LILRB4:uc002qgq.3:exon5:c.A668G:p.D223G,LILRB4:uc002qgp.3:exon5:c.A668G:p.D223G,LILRB4:uc010ers.1:exon4:c.A407G:p.D136G,LILRB4:uc010ert.3:exon5:c.A791G:p.D264G,	UNKNOWN	Het;A>G	1012;100|51	Het;A>G	1652;74|76	Hom;A>G	3425;0|131
N	N	-	19	56477710	56477710	T	C	snp	nonsynonymous SNV	T2345C	V782A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	NLRP8		ENSG00000179709	NLR family pyrin domain containing 8	chr19:56459198-56499995	This gene encodes a member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. NLRP genes play roles in the mammalian innate immune system through inflammasome formation and activation of caspases. In addition, NLRP genes have been found to function during mammalian reproduction. Consistent with a function during human preimplantation development, this gene is expressed at high levels in oocytes with decreased levels in embryos. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Crohn Disease|Crohn's disease; Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell			GO:0070997;neuron death;IMP	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NLRP8			https://www.ncbi.nlm.nih.gov/omim/?term=609659	http://www.informatics.jax.org/searchtool/Search.do?query=NLRP8&submit=Quick%0D%14375ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP8	rs306496	0.658546	0.5931	0.5843	0.08	1	12	exonic	exonic	exonic	NLRP8	NLRP8	ENSG00000179709	nonsynonymous SNV	nonsynonymous SNV	unknown	NLRP8:NM_176811:exon5:c.T2345C:p.V782A,	NLRP8:uc010etg.3:exon5:c.T2345C:p.V782A,NLRP8:uc002qmh.3:exon5:c.T2345C:p.V782A,	UNKNOWN	Het;T>C	1601;69|74	Het;T>C	1236;78|54	Hom;T>C	3200;0|115
N	N	-	19	56693620	56693620	C	G	snp	nonsynonymous SNV	C216G	I72M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	GALP	Galp	ENSG00000197487	galanin like peptide	chr19:56687389-56697144	This gene encodes a member of the galanin family of neuropeptides. The encoded protein binds galanin receptors 1, 2 and 3 with the highest affinity for galanin receptor 3 and has been implicated in biological processes involving the central nervous system including hypothalamic regulation of metabolism and reproduction. A peptide encoded by a splice variant of this gene, termed alarin, has vasoactive properties, displays antimicrobial activity against E. coli, and may serve as a marker for neuroblastic tumors.[provided by RefSeq, Nov 2014]	Alzheimer's disease; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit resistance to diet induced obesity.		GO:0007218;neuropeptide signaling pathway;IEA|GO:0008150;biological_process;ND|GO:0009725;response to hormone;IEA|GO:0032098;regulation of appetite;IEA|GO:0032868;response to insulin;IEA|GO:0042595;behavioral response to starvation;IEA|GO:0042742;defense response to bacterium;IEA	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA	GO:0005179;hormone activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GALP			https://www.ncbi.nlm.nih.gov/omim/?term=611178	http://www.informatics.jax.org/searchtool/Search.do?query=GALP&submit=Quick%0D%16641ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GALP	rs3745833	0.325479	0.3541	0.3435	0.33	4	12	exonic	exonic	exonic	GALP	GALP	ENSG00000197487	nonsynonymous SNV	nonsynonymous SNV	unknown	GALP:NM_033106:exon4:c.C216G:p.I72M,	GALP:uc002qmo.1:exon4:c.C216G:p.I72M,	UNKNOWN	Het;C>G	630;41|29	Ref		Hom;C>G	1688;0|64
N	N	-	19	57176304	57176304	T	G	snp	nonsynonymous SNV	A263C	E88A	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	ZNF835		ENSG00000127903	zinc finger protein 835	chr19:57174020-57183151					GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF835	https://www.uniprot.org/uniprot/Q9Y2P0			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF835&submit=Quick%0D%6076ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF835	rs12460400	0.400759	0.3286	0.3510	0.08	1	12	exonic	exonic	exonic	ZNF835	ZNF835	ENSG00000127903	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF835:NM_001005850:exon2:c.A263C:p.E88A,	ZNF835:uc010ygn.2:exon2:c.A263C:p.E88A,ZNF835:uc031rne.1:exon1:c.A263C:p.E88A,	UNKNOWN	Het;T>G	2298;124|101	Ref		Hom;T>G	5317;0|189
N	N	-	19	57176482	57176482	C	T	snp	nonsynonymous SNV	G85A	E29K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	ZNF835		ENSG00000127903	zinc finger protein 835	chr19:57174020-57183151					GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF835	https://www.uniprot.org/uniprot/Q9Y2P0			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF835&submit=Quick%0D%6076ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF835	rs12462469	0.41234	0.3396	0.3553	0.08	1	12	exonic	exonic	exonic	ZNF835	ZNF835	ENSG00000127903	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF835:NM_001005850:exon2:c.G85A:p.E29K,	ZNF835:uc010ygn.2:exon2:c.G85A:p.E29K,ZNF835:uc031rne.1:exon1:c.G85A:p.E29K,	UNKNOWN	Het;C>T	3004;109|129	Ref		Hom;C>T	5844;0|214
N	N	-	19	58989495	58989495	A	C	snp	nonsynonymous SNV	A574C	N192H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	ZNF446	Zfp446	ENSG00000083838	zinc finger protein 446	chr19:58985384-58992597			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF446	https://www.uniprot.org/uniprot/Q9NWS9			http://www.informatics.jax.org/searchtool/Search.do?query=ZNF446&submit=Quick%0D%1843ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF446	rs893185	0.440296	0.5117	0.4349	0.08	1	13	exonic	exonic	exonic	ZNF446	ZNF446	ENSG00000083838	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF446:NM_001304453:exon3:c.A574C:p.N192H,ZNF446:NM_017908:exon4:c.A574C:p.N192H,	ZNF446:uc002qsz.3:exon4:c.A574C:p.N192H,ZNF446:uc002qta.3:exon4:c.A574C:p.N192H,ZNF446:uc010eur.3:exon4:c.A574C:p.N192H,	UNKNOWN	Het;A>C	3673;165|157	Ref		Hom;A>C	7914;4|292
N	N	-	19	59093464	59093464	C	T	snp	stopgain	C76T	Q26X	polar,hydrophilic,neutral	 	MGC2752																		rs7910	0.541933	0	0	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	CENPBD1P1	MGC2752	ENSG00000213753,ENSG00000268784	Na	stopgain	Na	Na	MGC2752:uc010eux.4:exon2:c.C76T:p.Q26X,	Na	Het;C>T	5310;136|146	Ref		Hom;C>T	6976;0|168
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	6736607	6736607	A	G	snp	nonsynonymous SNV	T236C	L79P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	GPR108	Gpr108	ENSG00000125734	G protein-coupled receptor 108	chr19:6729925-6737614		Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma	Mice homozygous for a null allele exhibit increased LPS-induced mortality.			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/GPR108	https://www.uniprot.org/uniprot/Q9NPR9			http://www.informatics.jax.org/searchtool/Search.do?query=GPR108&submit=Quick%0D%5821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR108	rs4807897	0.0091853	0.0086	0.0128	0.00	0	13	exonic	exonic	exonic	GPR108	GPR108	ENSG00000125734	nonsynonymous SNV	nonsynonymous SNV	unknown	GPR108:NM_001080452:exon2:c.T236C:p.L79P,	GPR108:uc002mfp.3:exon2:c.T236C:p.L79P,	UNKNOWN	Het;A>G	703;29|31	Het;A>G	603;34|28	Hom;A>G	2459;0|89
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	6744953	6744953	G	A	snp	nonsynonymous SNV	G932A	R311Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	TRIP10	Trip10	ENSG00000125733	thyroid hormone receptor interactor 10	chr19:6737936-6751537			Mice homozygous for a knock-out allele exhibit increased insulin-stimulated glucose uptake in adipocytes and decreased circulating glucose levels. Mice homozygous for another knock-out allele exhibit impaired integrin-dependent T-cell trafficking.	Clathrin-mediated endocytosis	GO:0006897;endocytosis;IEA|GO:0007154;cell communication;NAS|GO:0007165;signal transduction;TAS|GO:0030036;actin cytoskeleton organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0061024;membrane organization;TAS	GO:0001891;phagocytic cup;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TRIP10	https://www.uniprot.org/uniprot/Q15642		https://www.ncbi.nlm.nih.gov/omim/?term=604504	http://www.informatics.jax.org/searchtool/Search.do?query=TRIP10&submit=Quick%0D%5820ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIP10	rs148404026	0	7.7e-05	0.0001	0.46	6	13	exonic	exonic	exonic	TRIP10	TRIP10	ENSG00000125733	nonsynonymous SNV	nonsynonymous SNV	unknown	TRIP10:NM_001288963:exon9:c.G932A:p.R311Q,TRIP10:NM_001288962:exon9:c.G932A:p.R311Q,TRIP10:NM_004240:exon9:c.G932A:p.R311Q,	TRIP10:uc002mfr.3:exon9:c.G932A:p.R311Q,TRIP10:uc002mfs.3:exon9:c.G932A:p.R311Q,TRIP10:uc010dux.2:exon9:c.G932A:p.R311Q,	UNKNOWN	Het;G>A	1386;75|65	Het;G>A	1060;76|53	Hom;G>A	3107;2|123
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	6926378	6926378	T	C	snp	nonsynonymous SNV	T1457C	M486T	hydrophobic,neutral	polar,hydrophilic,neutral	EMR1	 																	rs2228539	0.319688	0.3793	0.2768	0.25	3	12	exonic	exonic	exonic	ADGRE1	EMR1	ENSG00000174837	nonsynonymous SNV	nonsynonymous SNV	unknown	ADGRE1:NM_001256252:exon15:c.T1832C:p.M611T,ADGRE1:NM_001256254:exon13:c.T1565C:p.M522T,ADGRE1:NM_001256253:exon15:c.T1793C:p.M598T,ADGRE1:NM_001974:exon16:c.T1988C:p.M663T,ADGRE1:NM_001256255:exon13:c.T1457C:p.M486T,	EMR1:uc010xjj.3:exon13:c.T1457C:p.M486T,EMR1:uc010dvb.4:exon15:c.T1832C:p.M611T,EMR1:uc002mfw.4:exon16:c.T1988C:p.M663T,EMR1:uc010dvc.4:exon15:c.T1793C:p.M598T,EMR1:uc010xji.3:exon13:c.T1565C:p.M522T,	UNKNOWN	Het;T>C	729;26|22	Het;T>C	825;10|22	Hom;T>C	1535;0|40
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	7537808	7537808	G	A	snp	nonsynonymous SNV	C440T	S147L	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	LOC100128573																		Na	0	0	0	1	0	0	ncRNA_exonic	exonic	downstream	LOC100128573	LOC100128573	ENSG00000104880	Na	nonsynonymous SNV	Na	Na	LOC100128573:uc010xjn.2:exon1:c.C440T:p.S147L,	Na	Het;G>A	214;13|9	Het;G>A	150;7|8	Hom;G>A	460;0|17
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	8121360	8121360	A	G	snp	nonsynonymous SNV	A302G	H101R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	CCL25	Ccl25	ENSG00000131142	C-C motif chemokine ligand 25	chr19:8117651-8127534	This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]	Hyperparathyroidism, Secondary; respiratory syncytial virus bronchiolitis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Mice homozygous for a knock-out allele exhibit impaired accumulation of antigen-specific CD8+ T lymphocytes within both lamina propria and epithelium of the small intestine.	G alpha (i) signalling events	GO:0001954;positive regulation of cell-matrix adhesion;IDA|GO:0002548;monocyte chemotaxis;IBA|GO:0006935;chemotaxis;TAS|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0030593;neutrophil chemotaxis;IBA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0048247;lymphocyte chemotaxis;IBA|GO:0050900;leukocyte migration;IEA|GO:0060326;cell chemotaxis;IDA|GO:0070098;chemokine-mediated signaling pathway;IBA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IBA|GO:0071346;cellular response to interferon-gamma;IBA|GO:0071347;cellular response to interleukin-1;IBA|GO:0071356;cellular response to tumor necrosis factor;IBA|GO:1903237;negative regulation of leukocyte tethering or rolling;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA	GO:0005125;cytokine activity;IEA|GO:0005179;hormone activity;TAS|GO:0008009;chemokine activity;IDA|GO:0031735;CCR10 chemokine receptor binding;IDA|GO:0042379;chemokine receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CCL25	https://www.uniprot.org/uniprot/O15444		https://www.ncbi.nlm.nih.gov/omim/?term=602565	http://www.informatics.jax.org/searchtool/Search.do?query=CCL25&submit=Quick%0D%6502ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCL25	rs2032887	0.217652	0.2446	0.2323	0.08	1	13	exonic	exonic	exonic	CCL25	CCL25	ENSG00000131142	nonsynonymous SNV	nonsynonymous SNV	unknown	CCL25:NM_005624:exon4:c.A302G:p.H101R,CCL25:NM_001201359:exon4:c.A302G:p.H101R,	CCL25:uc002mjc.4:exon4:c.A302G:p.H101R,CCL25:uc002mjd.3:exon4:c.A302G:p.H101R,	UNKNOWN	Het;A>G	481;46|24	Het;A>G	511;24|25	Hom;A>G	1404;0|46
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	8138054	8138054	C	A	snp	nonsynonymous SNV	G7830T	E2610D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	FBN3		ENSG00000142449	fibrillin 3	chr19:8130286-8214730	This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]	Polycystic Ovary Syndrome; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Fibrinogen; Sphingomyelins; Scoliosis; Sphingolipids; Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Forced Expiratory Volume; Hypertension		Molecules associated with elastic fibres	GO:0009653;anatomical structure morphogenesis;IBA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IBA	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FBN3	https://www.uniprot.org/uniprot/Q75N90		https://www.ncbi.nlm.nih.gov/omim/?term=608529	http://www.informatics.jax.org/searchtool/Search.do?query=FBN3&submit=Quick%0D%8283ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN3	rs7257948	0.579473	0.6438	0.5465	0.15	2	13	exonic	exonic	exonic	FBN3	FBN3	ENSG00000142449	nonsynonymous SNV	nonsynonymous SNV	unknown	FBN3:NM_032447:exon61:c.G7830T:p.E2610D,	FBN3:uc002mjf.3:exon61:c.G7830T:p.E2610D,FBN3:uc002mje.3:exon12:c.G1218T:p.E406D,	UNKNOWN	Het;C>A	1159;64|60	Het;C>A	784;55|40	Hom;C>A	2900;0|110
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	8503345	8503345	G	C	snp	nonsynonymous SNV	G656C	R219P	polar,hydrophilic,charged(+)	hydrophobic,neutral	MARCH2	March2	ENSG00000099785	membrane associated ring-CH-type finger 2	chr19:8478154-8503901	MARCH2 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH2 reduces surface accumulation of several glycoproteins and appears to regulate early endosome-to-trans-Golgi network (TGN) trafficking (Bartee et al., 2004 [PubMed 14722266]; Nakamura et al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010]		 		GO:0006897;endocytosis;IEA|GO:0016567;protein ubiquitination;IDA	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA	GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MARCH2	https://www.uniprot.org/uniprot/Q9P0N8		https://www.ncbi.nlm.nih.gov/omim/?term=613332	http://www.informatics.jax.org/searchtool/Search.do?query=MARCH2&submit=Quick%0D%2329ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MARCH2	rs34099346	0.0934505	0.1049	0.1551	0.15	2	13	exonic	exonic	exonic	MARCH2	MARCH2	ENSG00000099785	nonsynonymous SNV	nonsynonymous SNV	unknown	MARCH2:NM_001005416:exon4:c.G446C:p.R149P,MARCH2:NM_001005415:exon5:c.G656C:p.R219P,MARCH2:NM_016496:exon6:c.G656C:p.R219P,	MARCH2:uc002mjv.3:exon6:c.G656C:p.R219P,MARCH2:uc002mjx.3:exon4:c.G446C:p.R149P,MARCH2:uc002mjw.3:exon5:c.G656C:p.R219P,	UNKNOWN	Het;G>C	2124;102|94	Het;G>C	1537;102|77	Hom;G>C	4815;0|182
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	9068374	9068374	A	G	snp	nonsynonymous SNV	T19072C	S6358P	polar,hydrophilic,neutral	hydrophobic,neutral	MUC16	Muc16	ENSG00000181143	mucin 16, cell surface associated	chr19:8959520-9092018		Heart Failure; epithelial ovarian cancer 	Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females.	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MUC16			https://www.ncbi.nlm.nih.gov/omim/?term=606154	http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16	rs61732552	0.0181709	0.0224	0.0286	0.08	1	12	exonic	exonic	exonic	MUC16	MUC16	ENSG00000181143	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC16:NM_024690:exon3:c.T19072C:p.S6358P,	MUC16:uc002mkp.3:exon3:c.T19072C:p.S6358P,	UNKNOWN	Het;A>G	2278;73|92	Het;A>G	2127;100|92	Hom;A>G	5284;0|183
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	9071562	9071562	C	T	snp	nonsynonymous SNV	G15884A	G5295E	aliphatic,neutral	polar,hydrophilic,charged(-)	MUC16	Muc16	ENSG00000181143	mucin 16, cell surface associated	chr19:8959520-9092018		Heart Failure; epithelial ovarian cancer 	Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females.	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MUC16			https://www.ncbi.nlm.nih.gov/omim/?term=606154	http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16	rs116866749	0.0169728	0.0221	0.0272	0.08	1	12	exonic	exonic	exonic	MUC16	MUC16	ENSG00000181143	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC16:NM_024690:exon3:c.G15884A:p.G5295E,	MUC16:uc002mkp.3:exon3:c.G15884A:p.G5295E,	UNKNOWN	Het;C>T	1585;83|73	Het;C>T	1547;98|68	Hom;C>T	4116;0|149
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	9083143	9083143	G	A	snp	nonsynonymous SNV	C8672T	T2891I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	MUC16	Muc16	ENSG00000181143	mucin 16, cell surface associated	chr19:8959520-9092018		Heart Failure; epithelial ovarian cancer 	Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females.	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MUC16			https://www.ncbi.nlm.nih.gov/omim/?term=606154	http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16	rs7245949	0.226438	0.3097	0.2933	0.33	4	12	exonic	exonic	exonic	MUC16	MUC16	ENSG00000181143	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC16:NM_024690:exon1:c.C8672T:p.T2891I,	MUC16:uc002mkp.3:exon1:c.C8672T:p.T2891I,	UNKNOWN	Het;G>A	1471;77|66	Het;G>A	1648;79|75	Hom;G>A	3441;0|121
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	9083174	9083174	G	A	snp	nonsynonymous SNV	C8641T	P2881S	hydrophobic,neutral	polar,hydrophilic,neutral	MUC16	Muc16	ENSG00000181143	mucin 16, cell surface associated	chr19:8959520-9092018		Heart Failure; epithelial ovarian cancer 	Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females.	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MUC16			https://www.ncbi.nlm.nih.gov/omim/?term=606154	http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16	rs7245960	0.226637	0.3087	0.2948	0.17	2	12	exonic	exonic	exonic	MUC16	MUC16	ENSG00000181143	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC16:NM_024690:exon1:c.C8641T:p.P2881S,	MUC16:uc002mkp.3:exon1:c.C8641T:p.P2881S,	UNKNOWN	Het;G>A	1644;78|69	Het;G>A	1549;80|63	Hom;G>A	3269;0|112
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	9084299	9084299	T	C	snp	nonsynonymous SNV	A7516G	T2506A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	MUC16	Muc16	ENSG00000181143	mucin 16, cell surface associated	chr19:8959520-9092018		Heart Failure; epithelial ovarian cancer 	Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females.	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MUC16			https://www.ncbi.nlm.nih.gov/omim/?term=606154	http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16	rs1609458	0.416733	0.4530	0.4880	0.30	3	10	exonic	exonic	exonic	MUC16	MUC16	ENSG00000181143	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC16:NM_024690:exon1:c.A7516G:p.T2506A,	MUC16:uc002mkp.3:exon1:c.A7516G:p.T2506A,	UNKNOWN	Het;T>C	1488;50|62	Het;T>C	1485;40|56	Hom;T>C	3134;0|106
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	9084481	9084481	C	T	snp	nonsynonymous SNV	G7334A	G2445D	aliphatic,neutral	polar,hydrophilic,charged(-)	MUC16	Muc16	ENSG00000181143	mucin 16, cell surface associated	chr19:8959520-9092018		Heart Failure; epithelial ovarian cancer 	Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females.	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MUC16			https://www.ncbi.nlm.nih.gov/omim/?term=606154	http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16	rs28641623	0.0225639	0.0233	0.0069	0.27	3	11	exonic	exonic	exonic	MUC16	MUC16	ENSG00000181143	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC16:NM_024690:exon1:c.G7334A:p.G2445D,	MUC16:uc002mkp.3:exon1:c.G7334A:p.G2445D,	UNKNOWN	Het;C>T	1256;43|52	Het;C>T	1638;34|65	Hom;C>T	3168;1|112
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	9086123	9086123	A	C	snp	nonsynonymous SNV	T5692G	Y1898D	aromatic,polar,hydrophobic	polar,hydrophilic,charged(-)	MUC16	Muc16	ENSG00000181143	mucin 16, cell surface associated	chr19:8959520-9092018		Heart Failure; epithelial ovarian cancer 	Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females.	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MUC16			https://www.ncbi.nlm.nih.gov/omim/?term=606154	http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16	rs10402812	0.226438	0.3095	0.2920	0.30	3	10	exonic	exonic	exonic	MUC16	MUC16	ENSG00000181143	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC16:NM_024690:exon1:c.T5692G:p.Y1898D,	MUC16:uc002mkp.3:exon1:c.T5692G:p.Y1898D,	UNKNOWN	Het;A>C	1325;69|55	Het;A>C	1219;81|57	Hom;A>C	3723;0|130
19_20.212_38.212	Chr19:6565245-15124834	0.429	19	9088017	9088017	T	G	snp	nonsynonymous SNV	A3798C	K1266N	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	MUC16	Muc16	ENSG00000181143	mucin 16, cell surface associated	chr19:8959520-9092018		Heart Failure; epithelial ovarian cancer 	Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females.	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MUC16			https://www.ncbi.nlm.nih.gov/omim/?term=606154	http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16	rs1596797	0.796326	0.7692	0.7434	0.08	1	12	exonic	exonic	exonic	MUC16	MUC16	ENSG00000181143	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC16:NM_024690:exon1:c.A3798C:p.K1266N,	MUC16:uc002mkp.3:exon1:c.A3798C:p.K1266N,	UNKNOWN	Het;T>G	2079;96|87	Het;T>G	2083;77|87	Hom;T>G	4406;0|153
N	N	-	1	103354138	103354138	A	G	snp	nonsynonymous SNV	T4486C	S1496P	polar,hydrophilic,neutral	hydrophobic,neutral	COL11A1	Col11a1	ENSG00000060718	collagen type XI alpha 1 chain	chr1:103342023-103574052	This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]	colorectal cancer; Triglycerides; Type 2 Diabetes| edema | rosiglitazone; Hemoglobin A, Glycosylated; osteoarthritis; protein quantitative trait loci; Intervertebral Disk Displacement; Cleft Lip|Cleft Palate	Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs.	Collagen chain trimerization	GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0002063;chondrocyte development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030198;extracellular matrix organization;NAS|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0035989;tendon development;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IMP|GO:0051216;cartilage development;IEA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005592;collagen type XI trimer;IDA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA	GO:0005201;extracellular matrix structural constituent;NAS|GO:0030674;protein binding, bridging;NAS|GO:0046872;metal ion binding;IEA|GO:0050840;extracellular matrix binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/COL11A1	https://www.uniprot.org/uniprot/P12107	https://hpo.jax.org/app/browse/search?q=COL11A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120280	http://www.informatics.jax.org/searchtool/Search.do?query=COL11A1&submit=Quick%0D%1067ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL11A1	rs1676486	0.782947	0.8070	0.7942	0.31	4	13	exonic	exonic	exonic	COL11A1	COL11A1	ENSG00000060718	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	COL11A1:NM_001190709:exon61:c.T4486C:p.S1496P,COL11A1:NM_080630:exon60:c.T4255C:p.S1419P,COL11A1:NM_080629:exon62:c.T4639C:p.S1547P,COL11A1:NM_001854:exon62:c.T4603C:p.S1535P,	COL11A1:uc001dun.3:exon61:c.T4486C:p.S1496P,COL11A1:uc001dul.3:exon62:c.T4603C:p.S1535P,COL11A1:uc001dum.3:exon62:c.T4639C:p.S1547P,COL11A1:uc009weh.3:exon60:c.T4255C:p.S1419P,COL11A1:uc001duk.3:exon59:c.T2191C:p.S731P,	ENSG00000060718:ENST00000370096:exon62:c.T4603C:p.S1535P,ENSG00000060718:ENST00000512756:exon60:c.T4255C:p.S1419P,ENSG00000060718:ENST00000353414:exon61:c.T4486C:p.S1496P,ENSG00000060718:ENST00000358392:exon62:c.T4639C:p.S1547P,	Het;A>G	862;36|34	Het;A>G	436;42|24	Hom;A>G	2426;0|89
N	N	-	1	109268573	109268573	T	C	snp	nonsynonymous SNV	T359C	V120A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FNDC7	Fndc7	ENSG00000143107	fibronectin type III domain containing 7	chr1:109255279-109285365		Hip	 			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FNDC7	https://www.uniprot.org/uniprot/Q5VTL7			http://www.informatics.jax.org/searchtool/Search.do?query=FNDC7&submit=Quick%0D%8363ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC7	rs4494160	0.592851	0.7391	0.6521	0.23	3	13	exonic	exonic	exonic	FNDC7	FNDC7	ENSG00000143107	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FNDC7:NM_001144937:exon6:c.T1058C:p.V353A,	FNDC7:uc010ova.2:exon2:c.T359C:p.V120A,FNDC7:uc001dvx.3:exon6:c.T1058C:p.V353A,	ENSG00000143107:ENST00000370017:exon6:c.T1058C:p.V353A,ENSG00000143107:ENST00000271311:exon5:c.T1061C:p.V354A,	Het;T>C	1319;56|56	Ref		Hom;T>C	3283;0|114
N	N	-	1	109395105	109395105	C	T	snp	nonsynonymous SNV	G182A	S61N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	AKNAD1	Aknad1	ENSG00000162641	AKNA domain containing 1	chr1:109358520-109506106	This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]	Fibrinogen; Tobacco Use Disorder	 					http://www.genecards.org/index.php?path=/Search/keyword/AKNAD1				http://www.informatics.jax.org/searchtool/Search.do?query=AKNAD1&submit=Quick%0D%10758ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AKNAD1	rs1277207	0.867013	0.8332	0.8324	0.08	1	13	exonic	exonic	exonic	AKNAD1	AKNAD1	ENSG00000162641	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	AKNAD1:NM_152763:exon2:c.G182A:p.S61N,	AKNAD1:uc001dwa.4:exon2:c.G182A:p.S61N,	ENSG00000162641:ENST00000369994:exon1:c.G182A:p.S61N,ENSG00000162641:ENST00000461774:exon2:c.G182A:p.S61N,ENSG00000162641:ENST00000370001:exon2:c.G182A:p.S61N,ENSG00000162641:ENST00000472781:exon2:c.G182A:p.S61N,ENSG00000162641:ENST00000369995:exon2:c.G182A:p.S61N,ENSG00000162641:ENST00000474186:exon3:c.G182A:p.S61N,	Het;C>T	2008;95|89	Het;C>T	2385;102|103	Hom;C>T	4203;2|156
N	N	-	1	109735416	109735416	A	C	snp	nonsynonymous SNV	A1606C	T536P	polar,hydrophilic,neutral	hydrophobic,neutral	KIAA1324	5330417C22Rik	ENSG00000116299	KIAA1324	chr1:109656301-109749401	Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]	Cholesterol, LDL; Tobacco Use Disorder; Lipoproteins, VLDL; Natriuretic Peptide, Brain	Male homozygous mice are infertile.  Microscopic analysis revealed defective spermatogenesis in the testis, and hypospermia and defective spermatozoa in the epididymides.		GO:0000045;autophagosome assembly;IMP|GO:0006914;autophagy;IEA|GO:0009267;cellular response to starvation;IMP|GO:0044090;positive regulation of vacuole organization;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP	GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA1324	https://www.uniprot.org/uniprot/Q6UXG2		https://www.ncbi.nlm.nih.gov/omim/?term=611298	http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1324&submit=Quick%0D%4735ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1324	rs659543	0.740016	0.6363	0.7829	0.08	1	13	exonic	exonic	exonic	KIAA1324	KIAA1324	ENSG00000116299	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	KIAA1324:NM_001267048:exon12:c.A1606C:p.T536P,KIAA1324:NM_020775:exon14:c.A1867C:p.T623P,KIAA1324:NM_001284352:exon13:c.A1561C:p.T521P,KIAA1324:NM_001284353:exon7:c.A853C:p.T285P,	KIAA1324:uc009wey.3:exon12:c.A1606C:p.T536P,KIAA1324:uc031pnl.1:exon7:c.A853C:p.T285P,KIAA1324:uc001dwr.3:exon6:c.A817C:p.T273P,KIAA1324:uc009wex.2:exon13:c.A1717C:p.T573P,KIAA1324:uc021orb.1:exon14:c.A1867C:p.T623P,KIAA1324:uc010ovg.3:exon13:c.A1561C:p.T521P,	ENSG00000116299:ENST00000529753:exon12:c.A1606C:p.T536P,ENSG00000116299:ENST00000457623:exon13:c.A1717C:p.T573P,ENSG00000116299:ENST00000369939:exon14:c.A1867C:p.T623P,	Het;A>C	1310;69|58	Het;A>C	1419;81|61	Hom;A>C	3962;2|143
N	N	-	1	110300441	110300441	G	A	snp	nonsynonymous SNV	C877T	H293Y	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophobic	EPS8L3	Eps8l3	ENSG00000198758	EPS8 like 3	chr1:110292702-110306649	This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]	Paget's disease; Osteitis Deformans; Parkinson Disease	 			GO:0005737;cytoplasm;IEA		http://www.genecards.org/index.php?path=/Search/keyword/EPS8L3		https://hpo.jax.org/app/browse/search?q=EPS8L3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614989	http://www.informatics.jax.org/searchtool/Search.do?query=EPS8L3&submit=Quick%0D%16994ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPS8L3	rs3818562	0.473243	0.4034	0.4843	0.08	1	13	exonic	exonic	exonic	EPS8L3	EPS8L3	ENSG00000198758	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	EPS8L3:NM_133181:exon10:c.C877T:p.H293Y,EPS8L3:NM_024526:exon10:c.C877T:p.H293Y,EPS8L3:NM_139053:exon10:c.C880T:p.H294Y,	EPS8L3:uc001dyr.2:exon10:c.C877T:p.H293Y,EPS8L3:uc001dyq.2:exon10:c.C880T:p.H294Y,EPS8L3:uc009wfn.2:exon10:c.C802T:p.H268Y,EPS8L3:uc001dys.2:exon10:c.C877T:p.H293Y,EPS8L3:uc009wfm.2:exon9:c.C778T:p.H260Y,EPS8L3:uc009wfo.2:exon9:c.C718T:p.H240Y,	ENSG00000198758:ENST00000369805:exon10:c.C880T:p.H294Y,ENSG00000198758:ENST00000361852:exon10:c.C877T:p.H293Y,ENSG00000198758:ENST00000361965:exon10:c.C877T:p.H293Y,	Het;G>A	643;47|31	Het;G>A	713;27|35	Hom;G>A	2423;0|92
N	N	-	1	120057246	120057246	C	A	snp	nonsynonymous SNV	C1100A	T367N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	HSD3B1	Hsd3b6	ENSG00000203857	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	chr1:120049821-120057681	The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016]	menarche menopause; Type 2 Diabetes| edema | rosiglitazone; breast cancer; hereditary and sporadic prostate cancer susceptibility.; Hypertension; bladder cancer; Maduromycosis|Mycetoma; body mass; esophageal adenocarcinoma; prostatic hyperplasia; polycystic ovary syndrome; Acquired Immunodeficiency Syndrome|Disease Progression; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; patent ductus arteriosus; blood pressure; Bone Mineral Density; Lymphoma, Non-Hodgkin; breast cancer|prostate cancer; lung cancer ; hypertension; Breast Neoplasms|Mammary Neoplasms; chronic obstructive pulmonary disease; Diabetes Mellitus, Type 2|Uremia; lung cancer; prostate cancer	 	Glucocorticoid biosynthesis	GO:0006694;steroid biosynthetic process;IEA|GO:0006702;androgen biosynthetic process;TAS|GO:0006703;estrogen biosynthetic process;TAS|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006705;mineralocorticoid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005758;mitochondrial intermembrane space;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030868;smooth endoplasmic reticulum membrane;ISS|GO:0031966;mitochondrial membrane;IEA	GO:0003824;catalytic activity;IEA|GO:0003854;3-beta-hydroxy-delta5-steroid dehydrogenase activity;IEA|GO:0004769;steroid delta-isomerase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSD3B1			https://www.ncbi.nlm.nih.gov/omim/?term=109715	http://www.informatics.jax.org/searchtool/Search.do?query=HSD3B1&submit=Quick%0D%17153ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSD3B1	rs1047303	0.833466	0.7492	0.7554	0.15	2	13	exonic	exonic	exonic	HSD3B1	HSD3B1	ENSG00000203857	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	HSD3B1:NM_000862:exon4:c.C1100A:p.T367N,	HSD3B1:uc031pnt.1:exon3:c.C1100A:p.T367N,HSD3B1:uc001ehv.1:exon4:c.C1100A:p.T367N,	ENSG00000203857:ENST00000235547:exon4:c.C1106A:p.T369N,ENSG00000203857:ENST00000528909:exon3:c.C1100A:p.T367N,ENSG00000203857:ENST00000369413:exon4:c.C1100A:p.T367N,	Het;C>A	166;14|7	Ref		Hom;C>A	296;0|10
N	N	-	1	144615250	144615250	G	GAA	indel	frameshift substitution	116_116delinsGAA	 	 	 	NBPF8	 																	rs10625215	0.0992412	0	0.0548	1	0	0	exonic	exonic	ncRNA_exonic	NBPF8,NBPF9	NBPF8,NBPF9	ENSG00000225241	unknown	frameshift substitution	Na	UNKNOWN	NBPF8:uc031pny.1:exon2:c.116_116delinsGAA,NBPF9:uc031pnx.1:exon3:c.116_116delinsGAA,NBPF9:uc009wig.2:exon3:c.116_116delinsGAA,	Na	Het;+AA	1258;32|58	Ref		Hom;+AA	4072;7|98
N	N	-	1	145296478	145296478	G	T	snp	nonsynonymous SNV	G400T	D134Y	polar,hydrophilic,charged(-)	aromatic,polar,hydrophobic	NBPF10	 	ENSG00000271425	NBPF member 10	chr1:145289772-145370303	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]		 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/NBPF10			https://www.ncbi.nlm.nih.gov/omim/?term=614000	http://www.informatics.jax.org/searchtool/Search.do?query=NBPF10&submit=Quick%0D%20838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF10	rs6663523	0	0	0.5104	0.14	1	7	exonic	exonic	exonic	NBPF10	NBPF10	ENSG00000163386	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	NBPF10:NM_001302371:exon3:c.G400T:p.D134Y,NBPF10:NM_001039703:exon3:c.G400T:p.D134Y,	NBPF10:uc021ouk.1:exon8:c.G400T:p.D134Y,NBPF10:uc031poc.1:exon3:c.G400T:p.D134Y,NBPF10:uc021oul.2:exon3:c.G400T:p.D134Y,	ENSG00000163386:ENST00000342960:exon3:c.G400T:p.D134Y,ENSG00000163386:ENST00000490598:exon3:c.G400T:p.D134Y,	Het;G>T	3593;110|149	Het;G>T	1153;176|67	Hom;G>T	4589;9|175
N	N	-	1	152084175	152084175	T	TTGCTGCTCGCGCCTCTCC	indel	nonframeshift substitution	1518_1518delinsGGAGAGGCGCGAGCAGCAA	 	 	 	TCHH		ENSG00000159450	trichohyalin	chr1:152078793-152086556	Trichohyalin confers mechanical strength to the hair follicle inner root sheath and to other toughened epithelial tissues, such as the hard palate and filiform ridges of the tongue, by forming multiple complex crosslinks with itself and with other structural proteins (Steinert et al., 2003 [PubMed 12853460]).[supplied by OMIM, Dec 2009]	hair morphology; straight hair		Formation of the cornified envelope	GO:0008150;biological_process;ND|GO:0031424;keratinization;IEA|GO:0070268;cornification;TAS	GO:0001533;cornified envelope;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;NAS	GO:0005509;calcium ion binding;TAS|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TCHH		https://hpo.jax.org/app/browse/search?q=TCHH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=190370	http://www.informatics.jax.org/searchtool/Search.do?query=TCHH&submit=Quick%0D%10340ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCHH	rs752560318	0	0	0.2054	1	0	0	exonic	exonic	exonic	TCHH	TCHH	ENSG00000159450	nonframeshift substitution	nonframeshift substitution	nonframeshift substitution	TCHH:NM_007113:exon3:c.1518_1518delinsGGAGAGGCGCGAGCAGCAA,	TCHH:uc009wne.1:exon3:c.1518_1518delinsGGAGAGGCGCGAGCAGCAA,TCHH:uc001ezp.3:exon3:c.1518_1518delinsGGAGAGGCGCGAGCAGCAA,	ENSG00000159450:ENST00000368804:exon2:c.1518_1518delinsGGAGAGGCGCGAGCAGCAA,	Het;+TGCTGCTCGCGCCTCTCC	429;12|10	Ref		Hom;+TGCTGCTCGCGCCTCTCC	804;0|17
N	N	-	1	152129065	152129101	GTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	G	indel	nonframeshift substitution	474_510C	 	 	 	RPTN	Rptn	ENSG00000215853	repetin	chr1:152126071-152131704		HIV Infections|[X]Human immunodeficiency virus disease	 	Formation of the cornified envelope	GO:0070268;cornification;TAS	GO:0001533;cornified envelope;TAS|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005829;cytosol;TAS	GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPTN			https://www.ncbi.nlm.nih.gov/omim/?term=613259	http://www.informatics.jax.org/searchtool/Search.do?query=RPTN&submit=Quick%0D%18362ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPTN	rs765213852	0	0	0.2423	1	0	0	exonic	exonic	exonic	RPTN	RPTN	ENSG00000215853	nonframeshift substitution	nonframeshift substitution	nonframeshift substitution	RPTN:NM_001122965:exon3:c.474_510C,	RPTN:uc001ezs.1:exon3:c.474_510C,	ENSG00000215853:ENST00000316073:exon3:c.474_510C,	Het;-TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	6161;261|173	Ref		Hom;-TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	13879;6|334
N	N	-	1	152279729	152279729	C	T	snp	nonsynonymous SNV	G7633A	G2545R	aliphatic,neutral	polar,hydrophilic,charged(+)	FLG		ENSG00000143631	filaggrin	chr1:152274651-152297679	The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]	asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index	Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk.	Formation of the cornified envelope	GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC	GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLG	https://www.uniprot.org/uniprot/P20930	https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=135940	http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG	rs3126072	0.47484	0.2812	0.2974	0.08	1	12	exonic	exonic	exonic	FLG	FLG	ENSG00000143631	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FLG:NM_002016:exon3:c.G7633A:p.G2545R,	FLG:uc001ezu.1:exon3:c.G7633A:p.G2545R,	ENSG00000143631:ENST00000368799:exon3:c.G7633A:p.G2545R,	Het;C>T	3525;128|160	Ref		Hom;C>T	6278;0|236
N	N	-	1	152279841	152279841	G	C	snp	nonsynonymous SNV	C7521G	H2507Q	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	FLG		ENSG00000143631	filaggrin	chr1:152274651-152297679	The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]	asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index	Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk.	Formation of the cornified envelope	GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC	GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLG	https://www.uniprot.org/uniprot/P20930	https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=135940	http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG	rs3126074	0.46226	0.2698	0.2943	0.08	1	12	exonic	exonic	exonic	FLG	FLG	ENSG00000143631	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FLG:NM_002016:exon3:c.C7521G:p.H2507Q,	FLG:uc001ezu.1:exon3:c.C7521G:p.H2507Q,	ENSG00000143631:ENST00000368799:exon3:c.C7521G:p.H2507Q,	Het;G>C	1354;76|59	Ref		Hom;G>C	2160;0|73
N	N	-	1	152279920	152279920	A	G	snp	nonsynonymous SNV	T7442C	L2481S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	FLG		ENSG00000143631	filaggrin	chr1:152274651-152297679	The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]	asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index	Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk.	Formation of the cornified envelope	GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC	GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLG	https://www.uniprot.org/uniprot/P20930	https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=135940	http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG	rs55650366	0.342452	0.1576	0.2608	0.08	1	12	exonic	exonic	exonic	FLG	FLG	ENSG00000143631	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FLG:NM_002016:exon3:c.T7442C:p.L2481S,	FLG:uc001ezu.1:exon3:c.T7442C:p.L2481S,	ENSG00000143631:ENST00000368799:exon3:c.T7442C:p.L2481S,	Het;A>G	877;46|33	Ref		Hom;A>G	1423;0|47
N	N	-	1	152280032	152280032	T	C	snp	nonsynonymous SNV	A7330G	K2444E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	FLG		ENSG00000143631	filaggrin	chr1:152274651-152297679	The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]	asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index	Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk.	Formation of the cornified envelope	GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC	GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLG	https://www.uniprot.org/uniprot/P20930	https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=135940	http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG	rs71625200	0.343051	0.1543	0.2608	0.08	1	12	exonic	exonic	exonic	FLG	FLG	ENSG00000143631	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FLG:NM_002016:exon3:c.A7330G:p.K2444E,	FLG:uc001ezu.1:exon3:c.A7330G:p.K2444E,	ENSG00000143631:ENST00000368799:exon3:c.A7330G:p.K2444E,	Het;T>C	650;38|31	Ref		Hom;T>C	994;0|35
N	N	-	1	152280170	152280170	C	G	snp	nonsynonymous SNV	G7192C	E2398Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	FLG		ENSG00000143631	filaggrin	chr1:152274651-152297679	The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]	asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index	Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk.	Formation of the cornified envelope	GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC	GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLG	https://www.uniprot.org/uniprot/P20930	https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=135940	http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG	rs71625201	0.330471	0.1545	0.2585	0.17	2	12	exonic	exonic	exonic	FLG	FLG	ENSG00000143631	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FLG:NM_002016:exon3:c.G7192C:p.E2398Q,	FLG:uc001ezu.1:exon3:c.G7192C:p.E2398Q,	ENSG00000143631:ENST00000368799:exon3:c.G7192C:p.E2398Q,	Het;C>G	135;5|6	Ref		Hom;C>G	193;0|7
N	N	-	1	152280782	152280782	A	G	snp	nonsynonymous SNV	T6580C	Y2194H	aromatic,polar,hydrophobic	aromatic,polar,hydrophilic,charged(+)	FLG		ENSG00000143631	filaggrin	chr1:152274651-152297679	The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]	asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index	Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk.	Formation of the cornified envelope	GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC	GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLG	https://www.uniprot.org/uniprot/P20930	https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=135940	http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG	rs2184953	0.539736	0	0.3176	0.08	1	12	exonic	exonic	exonic	FLG	FLG	ENSG00000143631	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6580C:p.Y2194H,	FLG:uc001ezu.1:exon3:c.T6580C:p.Y2194H,	ENSG00000143631:ENST00000368799:exon3:c.T6580C:p.Y2194H,	Het;A>G	3090;55|79	Ref		Hom;A>G	6140;2|147
N	N	-	1	152281479	152281479	G	T	snp	nonsynonymous SNV	C5883A	H1961Q	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	FLG		ENSG00000143631	filaggrin	chr1:152274651-152297679	The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]	asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index	Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk.	Formation of the cornified envelope	GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC	GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLG	https://www.uniprot.org/uniprot/P20930	https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=135940	http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG	rs3126079	0.538139	0.3469	0.3173	0.08	1	12	exonic	exonic	exonic	FLG	FLG	ENSG00000143631	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FLG:NM_002016:exon3:c.C5883A:p.H1961Q,	FLG:uc001ezu.1:exon3:c.C5883A:p.H1961Q,	ENSG00000143631:ENST00000368799:exon3:c.C5883A:p.H1961Q,	Het;G>T	577;15|19	Ref		Hom;G>T	438;0|14
N	N	-	1	152283236	152283236	T	C	snp	nonsynonymous SNV	A4126G	R1376G	polar,hydrophilic,charged(+)	aliphatic,neutral	FLG		ENSG00000143631	filaggrin	chr1:152274651-152297679	The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]	asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index	Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk.	Formation of the cornified envelope	GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC	GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLG	https://www.uniprot.org/uniprot/P20930	https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=135940	http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG	rs11581433	0.343051	0.1571	0.2614	0.08	1	12	exonic	exonic	exonic	FLG	FLG	ENSG00000143631	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FLG:NM_002016:exon3:c.A4126G:p.R1376G,	FLG:uc001ezu.1:exon3:c.A4126G:p.R1376G,	ENSG00000143631:ENST00000368799:exon3:c.A4126G:p.R1376G,	Het;T>C	168;8|7	Ref		Hom;T>C	403;0|15
N	N	-	1	152283862	152283862	G	C	snp	nonsynonymous SNV	C3500G	A1167G	aliphatic,hydrophobic,neutral	aliphatic,neutral	FLG		ENSG00000143631	filaggrin	chr1:152274651-152297679	The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]	asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index	Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk.	Formation of the cornified envelope	GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC	GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLG	https://www.uniprot.org/uniprot/P20930	https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=135940	http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG	rs58001094	0.534145	0.3102	0.3040	0.17	2	12	exonic	exonic	exonic	FLG	FLG	ENSG00000143631	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FLG:NM_002016:exon3:c.C3500G:p.A1167G,	FLG:uc001ezu.1:exon3:c.C3500G:p.A1167G,	ENSG00000143631:ENST00000368799:exon3:c.C3500G:p.A1167G,	Het;G>C	803;53|35	Ref		Hom;G>C	1229;4|46
N	N	-	1	152285099	152285099	C	T	snp	nonsynonymous SNV	G2263A	E755K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	FLG		ENSG00000143631	filaggrin	chr1:152274651-152297679	The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]	asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index	Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk.	Formation of the cornified envelope	GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC	GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLG	https://www.uniprot.org/uniprot/P20930	https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=135940	http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG	rs74129461	0.327676	0.1392	0.2559	0.25	3	12	exonic	exonic	exonic	FLG	FLG	ENSG00000143631	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FLG:NM_002016:exon3:c.G2263A:p.E755K,	FLG:uc001ezu.1:exon3:c.G2263A:p.E755K,	ENSG00000143631:ENST00000368799:exon3:c.G2263A:p.E755K,	Het;C>T	218;15|9	Ref		Hom;C>T	654;0|22
N	N	-	1	152285930	152285930	G	A	snp	nonsynonymous SNV	C1432T	P478S	hydrophobic,neutral	polar,hydrophilic,neutral	FLG		ENSG00000143631	filaggrin	chr1:152274651-152297679	The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]	asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index	Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk.	Formation of the cornified envelope	GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC	GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLG	https://www.uniprot.org/uniprot/P20930	https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=135940	http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG	rs11584340	0.344649	0.1583	0.2613	0.08	1	12	exonic	exonic	exonic	FLG	FLG	ENSG00000143631	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FLG:NM_002016:exon3:c.C1432T:p.P478S,	FLG:uc001ezu.1:exon3:c.C1432T:p.P478S,	ENSG00000143631:ENST00000368799:exon3:c.C1432T:p.P478S,	Het;G>A	426;4|16	Ref		Hom;G>A	456;0|17
N	N	-	1	152286002	152286002	T	C	snp	nonsynonymous SNV	A1360G	T454A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	FLG		ENSG00000143631	filaggrin	chr1:152274651-152297679	The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]	asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index	Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk.	Formation of the cornified envelope	GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC	GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLG	https://www.uniprot.org/uniprot/P20930	https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=135940	http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG	rs2011331	0.464058	0.2706	0.2949	0.08	1	12	exonic	exonic	exonic	FLG	FLG	ENSG00000143631	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FLG:NM_002016:exon3:c.A1360G:p.T454A,	FLG:uc001ezu.1:exon3:c.A1360G:p.T454A,	ENSG00000143631:ENST00000368799:exon3:c.A1360G:p.T454A,	Het;T>C	343;22|14	Ref		Hom;T>C	830;0|24
N	N	-	1	152286367	152286367	C	A	snp	nonsynonymous SNV	G995T	G332V	aliphatic,neutral	aliphatic,hydrophobic,neutral	FLG		ENSG00000143631	filaggrin	chr1:152274651-152297679	The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]	asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index	Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk.	Formation of the cornified envelope	GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC	GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FLG	https://www.uniprot.org/uniprot/P20930	https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=135940	http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG	rs41267154	0.340655	0.1558	0.2603	0.42	5	12	exonic	exonic	exonic	FLG	FLG	ENSG00000143631	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FLG:NM_002016:exon3:c.G995T:p.G332V,	FLG:uc001ezu.1:exon3:c.G995T:p.G332V,	ENSG00000143631:ENST00000368799:exon3:c.G995T:p.G332V,	Het;C>A	462;18|17	Ref		Hom;C>A	893;0|31
N	N	-	1	152732106	152732106	A	T	snp	nonsynonymous SNV	A42T	Q14H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	KPRP	Kprp	ENSG00000203786	keratinocyte proline rich protein	chr1:152730506-152734529	This gene encodes a proline-rich skin protein possibly involved in keratinocyte differentiation. [provided by RefSeq, Jul 2016]		 			GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KPRP			https://www.ncbi.nlm.nih.gov/omim/?term=613260	http://www.informatics.jax.org/searchtool/Search.do?query=KPRP&submit=Quick%0D%17142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KPRP	rs17612167	0.177117	0.1682	0.2249	0.20	2	10	exonic	exonic	exonic	KPRP	KPRP	ENSG00000203786	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	KPRP:NM_001025231:exon2:c.A42T:p.Q14H,	KPRP:uc021ozf.1:exon1:c.A42T:p.Q14H,KPRP:uc001fal.1:exon2:c.A42T:p.Q14H,	ENSG00000203786:ENST00000368773:exon2:c.A42T:p.Q14H,ENSG00000203786:ENST00000606109:exon1:c.A42T:p.Q14H,	Het;A>T	2848;106|124	Ref		Hom;A>T	5133;2|189
N	N	-	1	153410822	153410822	C	A	snp	nonsynonymous SNV	G17T	G6V	aliphatic,neutral	aliphatic,hydrophobic,neutral	S100A7L2		ENSG00000197364	S100 calcium binding protein A7 like 2	chr1:153409534-153412425							GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/S100A7L2				http://www.informatics.jax.org/searchtool/Search.do?query=S100A7L2&submit=Quick%0D%16606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=S100A7L2	rs10888561	0.614217	0.6674	0.6923	0.22	2	9	exonic	exonic	exonic	S100A7L2	S100A7L2	ENSG00000197364	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	S100A7L2:NM_001045479:exon2:c.G17T:p.G6V,	S100A7L2:uc010pdx.2:exon2:c.G17T:p.G6V,	ENSG00000197364:ENST00000368725:exon2:c.G17T:p.G6V,	Het;C>A	1061;66|48	Ref		Hom;C>A	3082;2|119
N	N	-	1	153941514	153941514	C	T	snp	nonsynonymous SNV	C283T	P95S	hydrophobic,neutral	polar,hydrophilic,neutral	CREB3L4	Creb3l4	ENSG00000143578	cAMP responsive element binding protein 3 like 4	chr1:153940010-153946839	This gene encodes a CREB (cAMP responsive element binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein is a transcriptional activator which contains a dimerization domain, and this protein may function in a number of processing pathways including protein processing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]		Homozygous null mice display oligozoospermia but have normal fertility and sperm morphology and motility.	CREB3 factors activate genes	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006986;response to unfolded protein;IEA|GO:0007283;spermatogenesis;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA	GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0035497;cAMP response element binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CREB3L4	https://www.uniprot.org/uniprot/Q8TEY5		https://www.ncbi.nlm.nih.gov/omim/?term=607138	http://www.informatics.jax.org/searchtool/Search.do?query=CREB3L4&submit=Quick%0D%8479ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CREB3L4	rs11264743	0.256989	0.2291	0.3076	0.69	9	13	exonic	exonic	exonic	CREB3L4	CREB3L4	ENSG00000143578	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CREB3L4:NM_001255981:exon3:c.C223T:p.P75S,CREB3L4:NM_130898:exon3:c.C283T:p.P95S,CREB3L4:NM_001255980:exon3:c.C223T:p.P75S,CREB3L4:NM_001255978:exon3:c.C283T:p.P95S,CREB3L4:NM_001255979:exon3:c.C283T:p.P95S,	CREB3L4:uc001fdm.2:exon3:c.C283T:p.P95S,CREB3L4:uc001fdn.4:exon3:c.C283T:p.P95S,CREB3L4:uc001fdr.3:exon3:c.C283T:p.P95S,CREB3L4:uc010peg.2:exon3:c.C283T:p.P95S,CREB3L4:uc001fdq.3:exon3:c.C223T:p.P75S,CREB3L4:uc001fdo.4:exon3:c.C223T:p.P75S,	ENSG00000143578:ENST00000368603:exon3:c.C283T:p.P95S,ENSG00000143578:ENST00000449724:exon3:c.C223T:p.P75S,ENSG00000143578:ENST00000368607:exon3:c.C283T:p.P95S,ENSG00000143578:ENST00000368601:exon3:c.C283T:p.P95S,ENSG00000143578:ENST00000431292:exon3:c.C283T:p.P95S,ENSG00000143578:ENST00000271889:exon3:c.C283T:p.P95S,ENSG00000143578:ENST00000368600:exon3:c.C223T:p.P75S,	Het;C>T	1519;86|70	Ref		Hom;C>T	3647;0|131
N	N	-	1	154293675	154293675	G	A	snp	nonsynonymous SNV	G44A	R15Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	AQP10		ENSG00000143595	aquaporin 10	chr1:154293566-154297801	This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008]	Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Cell Adhesion Molecules; Coronary Disease|Coronary heart disease|Myocardial Infarction; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone		Passive transport by Aquaporins	GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0009636;response to toxic substance;IDA|GO:0015793;glycerol transport;IEA|GO:0071918;urea transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015250;water channel activity;EXP|GO:0015254;glycerol channel activity;EXP|GO:0015265;urea channel activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/AQP10	https://www.uniprot.org/uniprot/Q96PS8		https://www.ncbi.nlm.nih.gov/omim/?term=606578	http://www.informatics.jax.org/searchtool/Search.do?query=AQP10&submit=Quick%0D%8481ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP10	rs6668968	0.273163	0.2847	0.2921	0.23	3	13	exonic	exonic	exonic	AQP10	AQP10	ENSG00000143595	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	AQP10:NM_080429:exon1:c.G44A:p.R15Q,	AQP10:uc001feu.3:exon1:c.G44A:p.R15Q,	ENSG00000143595:ENST00000324978:exon1:c.G44A:p.R15Q,ENSG00000143595:ENST00000484864:exon1:c.G44A:p.R15Q,	Het;G>A	1587;74|67	Het;G>A	1426;73|67	Hom;G>A	2875;0|104
N	N	-	1	154295592	154295592	C	T	snp	nonsynonymous SNV	C367T	H123Y	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophobic	AQP10		ENSG00000143595	aquaporin 10	chr1:154293566-154297801	This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008]	Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Cell Adhesion Molecules; Coronary Disease|Coronary heart disease|Myocardial Infarction; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone		Passive transport by Aquaporins	GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0009636;response to toxic substance;IDA|GO:0015793;glycerol transport;IEA|GO:0071918;urea transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0015250;water channel activity;EXP|GO:0015254;glycerol channel activity;EXP|GO:0015265;urea channel activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/AQP10	https://www.uniprot.org/uniprot/Q96PS8		https://www.ncbi.nlm.nih.gov/omim/?term=606578	http://www.informatics.jax.org/searchtool/Search.do?query=AQP10&submit=Quick%0D%8481ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP10	rs6685323	0.293331	0.2999	0.2972	0.31	4	13	exonic	exonic	exonic	AQP10	AQP10	ENSG00000143595	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	AQP10:NM_080429:exon3:c.C367T:p.H123Y,	AQP10:uc001feu.3:exon3:c.C367T:p.H123Y,	ENSG00000143595:ENST00000324978:exon3:c.C367T:p.H123Y,ENSG00000143595:ENST00000484864:exon3:c.C367T:p.H123Y,	Het;C>T	938;49|42	Het;C>T	770;43|36	Hom;C>T	1771;4|70
N	N	-	1	155178782	155178782	A	T	snp	nonsynonymous SNV	A187T	T63S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MTX1	Mtx1	ENSG00000173171	metaxin 1	chr1:155178490-155183615		Acquired Immunodeficiency Syndrome|Disease Progression	 	Cristae formation	GO:0006626;protein targeting to mitochondrion;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MTX1			https://www.ncbi.nlm.nih.gov/omim/?term=600605	http://www.informatics.jax.org/searchtool/Search.do?query=MTX1&submit=Quick%0D%13303ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MTX1	rs760077	0.666733	0.6294	0.6688	1	0	0	exonic	exonic	exonic	MTX1	MTX1	ENSG00000173171	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	MTX1:NM_198883:exon1:c.A187T:p.T63S,MTX1:NM_002455:exon1:c.A187T:p.T63S,	MTX1:uc001fjb.3:exon1:c.A187T:p.T63S,MTX1:uc001fjc.3:exon1:c.A187T:p.T63S,	ENSG00000173171:ENST00000368376:exon1:c.A187T:p.T63S,ENSG00000173171:ENST00000316721:exon1:c.A187T:p.T63S,	Het;A>T	447;41|22	Ref		Hom;A>T	2322;0|82
N	N	-	1	155715641	155715641	G	A	snp	nonsynonymous SNV	G22A	V8M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	MSTO2P																		rs11264409	0.349441	0	0.4694	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	MSTO2P	MSTO2P	ENSG00000203761	Na	nonsynonymous SNV	Na	Na	MSTO2P:uc010pgn.2:exon1:c.G22A:p.V8M,MSTO2P:uc010pgo.2:exon1:c.G22A:p.V8M,	Na	Het;G>A	575;18|27	Ref		Hom;G>A	1285;0|47
N	N	-	1	155735012	155735012	T	C	snp	nonsynonymous SNV	A4252G	M1418V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	GON4L	Gon4l	ENSG00000116580	gon-4 like	chr1:155719508-155829191		Tobacco Use Disorder	Mice homozygous for an ENU-induced allele exhibit arrested B cell development at the early pro-B cell stage.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0030183;B cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA	GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GON4L	https://www.uniprot.org/uniprot/Q3T8J9		https://www.ncbi.nlm.nih.gov/omim/?term=610393	http://www.informatics.jax.org/searchtool/Search.do?query=GON4L&submit=Quick%0D%4754ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GON4L	rs2297775	0.354233	0.2710	0.3344	0.15	2	13	exonic	exonic	exonic	GON4L	GON4L	ENSG00000116580	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	GON4L:NM_032292:exon21:c.A4252G:p.M1418V,GON4L:NM_001282858:exon21:c.A4252G:p.M1418V,GON4L:NM_001282856:exon21:c.A4252G:p.M1418V,GON4L:NM_001282860:exon21:c.A4252G:p.M1418V,GON4L:NM_001282861:exon21:c.A4252G:p.M1418V,	GON4L:uc001fly.1:exon21:c.A4252G:p.M1418V,GON4L:uc001fmb.4:exon6:c.A1840G:p.M614V,GON4L:uc009wrh.1:exon21:c.A4252G:p.M1418V,GON4L:uc009wri.3:exon20:c.A3010G:p.M1004V,GON4L:uc001fma.1:exon21:c.A4252G:p.M1418V,GON4L:uc001fmd.4:exon21:c.A4252G:p.M1418V,GON4L:uc001fmc.3:exon21:c.A4252G:p.M1418V,GON4L:uc001flz.2:exon21:c.A4252G:p.M1418V,	ENSG00000116580:ENST00000271883:exon21:c.A4252G:p.M1418V,ENSG00000116580:ENST00000368331:exon21:c.A4252G:p.M1418V,ENSG00000116580:ENST00000437809:exon21:c.A4252G:p.M1418V,ENSG00000116580:ENST00000361040:exon21:c.A4252G:p.M1418V,	Het;T>C	2800;92|108	Ref		Hom;T>C	4410;1|149
N	N	-	1	155880573	155880573	C	G	snp	nonsynonymous SNV	G31C	E11Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	RIT1	Rit1	ENSG00000143622	Ras like without CAAX 1	chr1:155867599-155881195	This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]	Conduct Disorder; Conduct disorder (interaction)	Mice homozygous for a knock-out allele produce embryonic fibroblasts that exhibit increased cellular sensitivity to hydrogen peroxide.	Signalling to p38 via RIT and RIN	GO:0007165;signal transduction;TAS|GO:0007265;Ras protein signal transduction;IDA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;TAS|GO:0005525;GTP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RIT1	https://www.uniprot.org/uniprot/Q92963	https://hpo.jax.org/app/browse/search?q=RIT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609591	http://www.informatics.jax.org/searchtool/Search.do?query=RIT1&submit=Quick%0D%8486ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIT1	rs493446	0.779952	0.7952	0.8775	0.11	1	9	exonic	exonic	exonic	RIT1	RIT1	ENSG00000143622	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	RIT1:NM_001256821:exon2:c.G31C:p.E11Q,	RIT1:uc031pqc.1:exon2:c.G31C:p.E11Q,	ENSG00000143622:ENST00000368322:exon2:c.G31C:p.E11Q,	Het;C>G	1735;67|73	Het;C>G	1340;78|61	Hom;C>G	4731;0|173
N	N	-	1	156622252	156622252	G	A	snp	nonsynonymous SNV	G1510A	E504K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	BCAN	Bcan	ENSG00000132692	brevican	chr1:156611182-156629324	This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may function in the formation of the brain extracellular matrix. This protein is highly expressed in gliomas and may promote the growth and cell motility of brain tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]	Brain Ischemia|Stroke	Homozygous mutation of this gene results in impaired LTP maintenance, but mutant animals show normal behavior and spatial learning capabilities.	Defective B3GALT6 causes EDSP2 and SEMDJL1	GO:0001501;skeletal system development;IBA|GO:0007155;cell adhesion;IEA|GO:0007417;central nervous system development;IBA|GO:0021766;hippocampus development;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030206;chondroitin sulfate biosynthetic process;TAS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0030208;dermatan sulfate biosynthetic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005796;Golgi lumen;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS	GO:0005201;extracellular matrix structural constituent;IBA|GO:0005540;hyaluronic acid binding;IEA|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BCAN	https://www.uniprot.org/uniprot/Q96GW7		https://www.ncbi.nlm.nih.gov/omim/?term=600347	http://www.informatics.jax.org/searchtool/Search.do?query=BCAN&submit=Quick%0D%6724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCAN	rs1056695	0.374201	0.3390	0.3953	0.15	2	13	exonic	exonic	exonic	BCAN	BCAN	ENSG00000132692	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	BCAN:NM_198427:exon8:c.G1510A:p.E504K,BCAN:NM_021948:exon8:c.G1510A:p.E504K,	BCAN:uc001fpo.3:exon8:c.G1510A:p.E504K,BCAN:uc001fpp.3:exon8:c.G1510A:p.E504K,	ENSG00000132692:ENST00000361588:exon8:c.G1510A:p.E504K,ENSG00000132692:ENST00000329117:exon8:c.G1510A:p.E504K,	Het;G>A	1315;81|60	Het;G>A	1256;92|64	Hom;G>A	4075;0|153
N	N	-	1	158986477	158986477	G	C	snp	nonsynonymous SNV	G536C	S179T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	IFI16	Pyhin1	ENSG00000163565	interferon gamma inducible protein 16	chr1:158969758-159024945	This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding, transcriptional regulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulates p53 function, and inhibits cell growth in the Ras/Raf signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]	Tobacco Use Disorder; Autoimmune Diseases; Blood Proteins; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; ovarian cancer	 	IRF3-mediated induction of type I IFN	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001819;positive regulation of cytokine production;TAS|GO:0002218;activation of innate immune response;IDA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0008283;cell proliferation;NAS|GO:0010506;regulation of autophagy;IEP|GO:0030097;hemopoiesis;NAS|GO:0030099;myeloid cell differentiation;NAS|GO:0030224;monocyte differentiation;IDA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032731;positive regulation of interleukin-1 beta production;IDA|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0042149;cellular response to glucose starvation;IDA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA|GO:0043392;negative regulation of DNA binding;IDA|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0045824;negative regulation of innate immune response;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051607;defense response to virus;IMP|GO:0071479;cellular response to ionizing radiation;IDA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IMP|GO:0097202;activation of cysteine-type endopeptidase activity;IMP|GO:2000117;negative regulation of cysteine-type endopeptidase activity;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001047;core promoter binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;IDA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IFI16			https://www.ncbi.nlm.nih.gov/omim/?term=147586	http://www.informatics.jax.org/searchtool/Search.do?query=IFI16&submit=Quick%0D%11011ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFI16	rs866484	0.636182	0.6712	0.7286	0.08	1	12	exonic	exonic	exonic	IFI16	IFI16	ENSG00000163565	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	IFI16:NM_005531:exon4:c.G536C:p.S179T,	IFI16:uc001ftg.3:exon4:c.G536C:p.S179T,IFI16:uc010pit.2:exon3:c.G536C:p.S179T,IFI16:uc001ftf.1:exon5:c.G536C:p.S179T,	ENSG00000163565:ENST00000447473:exon5:c.G536C:p.S179T,ENSG00000163565:ENST00000368131:exon4:c.G536C:p.S179T,ENSG00000163565:ENST00000448393:exon3:c.G536C:p.S179T,ENSG00000163565:ENST00000340979:exon4:c.G536C:p.S179T,ENSG00000163565:ENST00000474473:exon2:c.G62C:p.S21T,ENSG00000163565:ENST00000295809:exon4:c.G536C:p.S179T,ENSG00000163565:ENST00000368132:exon4:c.G536C:p.S179T,ENSG00000163565:ENST00000567661:exon2:c.G62C:p.S21T,	Het;G>C	3025;121|126	Ref		Hom;G>C	7074;0|256
N	N	-	1	159778910	159778910	G	A	snp	nonsynonymous SNV	G479A	G160D	aliphatic,neutral	polar,hydrophilic,charged(-)	FCRL6	Fcrl6	ENSG00000181036	Fc receptor like 6	chr1:159770301-159786041			 			GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FCRL6			https://www.ncbi.nlm.nih.gov/omim/?term=613562	http://www.informatics.jax.org/searchtool/Search.do?query=FCRL6&submit=Quick%0D%14576ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRL6	rs72700615	0.0642971	0.1057	0.0987	0.08	1	13	exonic	exonic	exonic	FCRL6	FCRL6	ENSG00000181036	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FCRL6:NM_001284217:exon5:c.G500A:p.G167D,FCRL6:NM_001004310:exon4:c.G479A:p.G160D,	FCRL6:uc009wta.3:exon4:c.G479A:p.G160D,FCRL6:uc001fuc.2:exon5:c.G500A:p.G167D,FCRL6:uc001fud.4:exon4:c.G479A:p.G160D,	ENSG00000181036:ENST00000321935:exon5:c.G500A:p.G167D,ENSG00000181036:ENST00000368106:exon4:c.G479A:p.G160D,ENSG00000181036:ENST00000339348:exon4:c.G479A:p.G160D,	Het;G>A	3069;159|140	Ref		Hom;G>A	7324;0|270
N	N	-	1	159785413	159785413	C	T	snp	stopgain	C1267T	Q423X	polar,hydrophilic,neutral	 	FCRL6	Fcrl6	ENSG00000181036	Fc receptor like 6	chr1:159770301-159786041			 			GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FCRL6			https://www.ncbi.nlm.nih.gov/omim/?term=613562	http://www.informatics.jax.org/searchtool/Search.do?query=FCRL6&submit=Quick%0D%14576ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRL6	rs61823162	0.0577077	0.1008	0.0987	0.25	1	4	exonic	exonic	exonic	FCRL6	FCRL6	ENSG00000181036	stopgain	stopgain	stopgain	FCRL6:NM_001004310:exon10:c.C1267T:p.Q423X,	FCRL6:uc001fud.4:exon10:c.C1267T:p.Q423X,	ENSG00000181036:ENST00000368106:exon10:c.C1267T:p.Q423X,	Het;C>T	999;83|50	Ref		Hom;C>T	3265;0|118
N	N	-	1	159785425	159785425	A	G	snp	nonsynonymous SNV	A1279G	S427G	polar,hydrophilic,neutral	aliphatic,neutral	FCRL6	Fcrl6	ENSG00000181036	Fc receptor like 6	chr1:159770301-159786041			 			GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FCRL6			https://www.ncbi.nlm.nih.gov/omim/?term=613562	http://www.informatics.jax.org/searchtool/Search.do?query=FCRL6&submit=Quick%0D%14576ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRL6	rs4443889	0.253195	0.2787	0.2072	0.08	1	12	exonic	exonic	exonic	FCRL6	FCRL6	ENSG00000181036	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	FCRL6:NM_001004310:exon10:c.A1279G:p.S427G,	FCRL6:uc001fud.4:exon10:c.A1279G:p.S427G,	ENSG00000181036:ENST00000368106:exon10:c.A1279G:p.S427G,	Het;A>G	1089;84|53	Ref		Hom;A>G	3137;0|116
N	N	-	1	161681661	161681661	C	G	snp	nonsynonymous SNV	C71G	P24R	hydrophobic,neutral	polar,hydrophilic,charged(+)	FCRLA	Fcrla	ENSG00000132185	Fc receptor like A	chr1:161676762-161684142	This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011]	Cholesterol, HDL; Neuroblastoma	Mice homozygous for a targeted allele exhibit largely normal T-dependent and T-independent antibody responses with an increase in IgG1 after secondary challenge with sheep red blood cells.		GO:0030154;cell differentiation;IEA	GO:0005737;cytoplasm;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FCRLA	https://www.uniprot.org/uniprot/Q7L513		https://www.ncbi.nlm.nih.gov/omim/?term=606891	http://www.informatics.jax.org/searchtool/Search.do?query=FCRLA&submit=Quick%0D%6633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRLA	rs1105238	0.449081	0	0	1	0	0	intronic	exonic	intronic	FCRLA	FCRLA	ENSG00000132185	Na	nonsynonymous SNV	Na	Na	FCRLA:uc031prb.1:exon2:c.C71G:p.P24R,	Na	Het;C>G	288;20|11	Ref		Hom;C>G	494;0|16
N	N	-	1	161681780	161681780	A	G	snp	nonsynonymous SNV	A190G	S64G	polar,hydrophilic,neutral	aliphatic,neutral	FCRLA	Fcrla	ENSG00000132185	Fc receptor like A	chr1:161676762-161684142	This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011]	Cholesterol, HDL; Neuroblastoma	Mice homozygous for a targeted allele exhibit largely normal T-dependent and T-independent antibody responses with an increase in IgG1 after secondary challenge with sheep red blood cells.		GO:0030154;cell differentiation;IEA	GO:0005737;cytoplasm;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FCRLA	https://www.uniprot.org/uniprot/Q7L513		https://www.ncbi.nlm.nih.gov/omim/?term=606891	http://www.informatics.jax.org/searchtool/Search.do?query=FCRLA&submit=Quick%0D%6633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRLA	rs2275603	0.477037	0.3679	0.3139	0.15	2	13	exonic	exonic	exonic	FCRLA	FCRLA	ENSG00000132185	nonsynonymous SNV	nonsynonymous SNV	unknown	FCRLA:NM_001184867:exon3:c.A340G:p.S114G,FCRLA:NM_032738:exon4:c.A607G:p.S203G,FCRLA:NM_001184870:exon3:c.A205G:p.S69G,FCRLA:NM_001184872:exon2:c.A187G:p.S63G,FCRLA:NM_001184866:exon5:c.A625G:p.S209G,	FCRLA:uc031prb.1:exon2:c.A190G:p.S64G,FCRLA:uc001gbd.3:exon4:c.A607G:p.S203G,FCRLA:uc009wuo.3:exon3:c.A205G:p.S69G,FCRLA:uc001gbg.3:exon2:c.A187G:p.S63G,FCRLA:uc001gbe.3:exon5:c.A625G:p.S209G,FCRLA:uc001gbf.3:exon3:c.A340G:p.S114G,	UNKNOWN	Het;A>G	1051;82|50	Ref		Hom;A>G	3894;2|144
N	N	-	1	161697072	161697072	G	C	snp	nonsynonymous SNV	G797C	S266T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	FCRLB	Fcrlb	ENSG00000162746	Fc receptor like B	chr1:161691353-161697933	FCRL2 belongs to the Fc receptor family. Fc receptors are involved in phagocytosis, antibody-dependent cell cytotoxicity, immediate hypersensitivity, and transcytosis of immunoglobulins via their ability to bind immunoglobulin (Ig) constant regions (Chikaev et al., 2005 [PubMed 15676285]).[supplied by OMIM, Mar 2008]	Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Neuroblastoma	Mice homozygous for a knock-out allele exhibit an enhanced antibody response to a T-dependent antigen.		GO:0050777;negative regulation of immune response;IEA	GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FCRLB			https://www.ncbi.nlm.nih.gov/omim/?term=609251	http://www.informatics.jax.org/searchtool/Search.do?query=FCRLB&submit=Quick%0D%10790ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRLB	rs72704099	0.3125	0.2365	0.1548	0.23	3	13	exonic	exonic	exonic	FCRLB	FCRLB	ENSG00000162746	nonsynonymous SNV	nonsynonymous SNV	unknown	FCRLB:NM_001288832:exon5:c.G776C:p.S259T,FCRLB:NM_001288830:exon5:c.G735C:p.Q245H,FCRLB:NM_001002901:exon8:c.G901C:p.A301P,FCRLB:NM_001288831:exon6:c.G797C:p.S266T,FCRLB:NM_001288829:exon6:c.G756C:p.Q252H,	FCRLB:uc001gbk.3:exon6:c.G797C:p.S266T,FCRLB:uc009wus.3:exon7:c.G901C:p.A301P,FCRLB:uc001gbm.3:exon5:c.G776C:p.S259T,FCRLB:uc001gbl.3:exon5:c.G735C:p.Q245H,FCRLB:uc001gbh.3:exon8:c.G901C:p.A301P,FCRLB:uc001gbi.3:exon6:c.G901C:p.A301P,FCRLB:uc001gbj.3:exon6:c.G756C:p.Q252H,FCRLB:uc001gbn.4:exon2:c.G908C:p.S303T,	UNKNOWN	Het;G>C	1103;62|45	Ref		Hom;G>C	2096;1|71
N	N	-	1	175046789	175046789	A	G	snp	nonsynonymous SNV	A235G	R79G	polar,hydrophilic,charged(+)	aliphatic,neutral	TNN	Tnn	ENSG00000120332	tenascin N	chr1:175036994-175117202		Alcoholism	 	ECM proteoglycans	GO:0002076;osteoblast development;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007409;axonogenesis;IEA|GO:0016049;cell growth;IEA|GO:0016477;cell migration;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:1905240;negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation;IEA	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA	GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IEA|GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TNN	https://www.uniprot.org/uniprot/Q9UQP3		https://www.ncbi.nlm.nih.gov/omim/?term=617472	http://www.informatics.jax.org/searchtool/Search.do?query=TNN&submit=Quick%0D%5199ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNN	rs2072032	0.571486	0.5944	0.5148	0.08	1	13	exonic	exonic	exonic	TNN	TNN	ENSG00000120332	nonsynonymous SNV	nonsynonymous SNV	unknown	TNN:NM_022093:exon2:c.A235G:p.R79G,	TNN:uc010pmx.1:exon1:c.A235G:p.R79G,TNN:uc001gkl.1:exon2:c.A235G:p.R79G,	UNKNOWN	Het;A>G	2322;131|103	Het;A>G	2878;96|127	Hom;A>G	6298;1|224
N	N	-	1	175087729	175087729	T	C	snp	nonsynonymous SNV	T2419C	W807R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	TNN	Tnn	ENSG00000120332	tenascin N	chr1:175036994-175117202		Alcoholism	 	ECM proteoglycans	GO:0002076;osteoblast development;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007409;axonogenesis;IEA|GO:0016049;cell growth;IEA|GO:0016477;cell migration;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:1905240;negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation;IEA	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA	GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IEA|GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TNN	https://www.uniprot.org/uniprot/Q9UQP3		https://www.ncbi.nlm.nih.gov/omim/?term=617472	http://www.informatics.jax.org/searchtool/Search.do?query=TNN&submit=Quick%0D%5199ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNN	rs6696455	0.473243	0.5707	0.4237	0.08	1	13	exonic	exonic	exonic	TNN	TNN	ENSG00000120332	nonsynonymous SNV	nonsynonymous SNV	unknown	TNN:NM_022093:exon11:c.T2419C:p.W807R,	TNN:uc001gkl.1:exon11:c.T2419C:p.W807R,	UNKNOWN	Het;T>C	1940;89|88	Het;T>C	1632;76|75	Hom;T>C	4544;4|174
N	N	-	1	175092707	175092707	C	T	snp	nonsynonymous SNV	C2822T	T941M	polar,hydrophilic,neutral	hydrophobic,neutral	TNN	Tnn	ENSG00000120332	tenascin N	chr1:175036994-175117202		Alcoholism	 	ECM proteoglycans	GO:0002076;osteoblast development;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007409;axonogenesis;IEA|GO:0016049;cell growth;IEA|GO:0016477;cell migration;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:1905240;negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation;IEA	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA	GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IEA|GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TNN	https://www.uniprot.org/uniprot/Q9UQP3		https://www.ncbi.nlm.nih.gov/omim/?term=617472	http://www.informatics.jax.org/searchtool/Search.do?query=TNN&submit=Quick%0D%5199ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNN	rs10798333	0.300319	0.4128	0.3428	0.46	6	13	exonic	exonic	exonic	TNN	TNN	ENSG00000120332	nonsynonymous SNV	nonsynonymous SNV	unknown	TNN:NM_022093:exon12:c.C2822T:p.T941M,	TNN:uc001gkl.1:exon12:c.C2822T:p.T941M,	UNKNOWN	Het;C>T	1240;42|46	Ref		Hom;C>T	2291;0|82
N	N	-	1	193074651	193074651	T	A	snp	nonsynonymous SNV	A118T	R40W	polar,hydrophilic,charged(+)	aromatic,hydrophobic,neutral	GLRX2	Glrx2	ENSG00000023572	glutaredoxin 2	chr1:193065598-193075244	The protein encoded by this gene is a member of the glutaredoxin family of proteins, which maintain cellular thiol homeostasis. These proteins are thiol-disulfide oxidoreductases that use a glutathione-binding site and one or two active cysteines in their active site. This gene undergoes alternative splicing to produce multiple isoforms, one of which is ubiquitously expressed and localizes to mitochondria, where it functions in mitochondrial redox homeostasis and is important for the protection against and recovery from oxidative stress. Other isoforms, which have more restrictive expression patterns, show cytosolic and nuclear localization, and are thought to function in cellular differentiation and transformation, possibly with a role in tumor progression. [provided by RefSeq, Aug 2011]	Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit increased sensitivity to oxidative stress in primary mouse lens epithelial cells, and an increased level of glutathionylated proteins in mitochondria.		GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006749;glutathione metabolic process;TAS|GO:0006915;apoptotic process;NAS|GO:0007568;aging;IEA|GO:0009266;response to temperature stimulus;NAS|GO:0009966;regulation of signal transduction;NAS|GO:0010033;response to organic substance;IDA|GO:0030154;cell differentiation;NAS|GO:0042262;DNA protection;NAS|GO:0042542;response to hydrogen peroxide;IDA|GO:0045454;cell redox homeostasis;TAS|GO:0051775;response to redox state;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071451;cellular response to superoxide;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003756;protein disulfide isomerase activity;TAS|GO:0008794;arsenate reductase (glutaredoxin) activity;TAS|GO:0009055;electron carrier activity;NAS|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0015038;glutathione disulfide oxidoreductase activity;TAS|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLRX2	https://www.uniprot.org/uniprot/Q9NS18		https://www.ncbi.nlm.nih.gov/omim/?term=606820	http://www.informatics.jax.org/searchtool/Search.do?query=GLRX2&submit=Quick%0D%685ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRX2	rs10921310	0.680711	0.7369	0.7636	0.08	1	12	exonic	exonic	exonic	GLRX2	GLRX2	ENSG00000023572	nonsynonymous SNV	nonsynonymous SNV	unknown	GLRX2:NM_016066:exon1:c.A118T:p.R40W,	GLRX2:uc001gta.2:exon1:c.A118T:p.R40W,	UNKNOWN	Het;T>A	1148;40|52	Het;T>A	609;22|26	Hom;T>A	1414;0|53
N	N	-	1	205814485	205814485	G	A	snp	nonsynonymous SNV	C457T	R153W	polar,hydrophilic,charged(+)	aromatic,hydrophobic,neutral	PM20D1	Pm20d1	ENSG00000162877	peptidase M20 domain containing 1	chr1:205797150-205819260		Parkinson's disease; HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006508;proteolysis;IEA|GO:0006520;cellular amino acid metabolic process;IDA|GO:0008152;metabolic process;IEA|GO:0043604;amide biosynthetic process;IDA|GO:0043605;cellular amide catabolic process;IDA|GO:0044255;cellular lipid metabolic process;IDA|GO:0097009;energy homeostasis;IEA|GO:1901215;negative regulation of neuron death;IMP|GO:1990845;adaptive thermogenesis;IEA|GO:2000275;regulation of oxidative phosphorylation uncoupler activity;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA	GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016811;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PM20D1			https://www.ncbi.nlm.nih.gov/omim/?term=617124	http://www.informatics.jax.org/searchtool/Search.do?query=PM20D1&submit=Quick%0D%10818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PM20D1	rs1104899	0.2498	0.2337	0.2634	0.69	9	13	exonic	exonic	exonic	PM20D1	PM20D1	ENSG00000162877	nonsynonymous SNV	nonsynonymous SNV	unknown	PM20D1:NM_152491:exon3:c.C457T:p.R153W,	PM20D1:uc001hdj.3:exon3:c.C457T:p.R153W,	UNKNOWN	Het;G>A	1885;85|75	Het;G>A	1317;57|59	Hom;G>A	3137;2|115
N	N	-	1	245133489	245133489	T	G	snp	nonsynonymous SNV	T65G	V22G	aliphatic,hydrophobic,neutral	aliphatic,neutral	EFCAB2	Efcab2	ENSG00000203666	EF-hand calcium binding domain 2	chr1:245133007-245290466	The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]	Tobacco Use Disorder; monocyte chemoattractant protein 1 (66-77)	 				GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFCAB2				http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB2&submit=Quick%0D%17116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB2	rs7545078	0.48762	0	0.6193	0.18	2	11	ncRNA_intronic	exonic	exonic	LOC101928068	EFCAB2	ENSG00000203666,ENSG00000272195	Na	nonsynonymous SNV	unknown	Na	EFCAB2:uc001ibd.2:exon1:c.T65G:p.V22G,	UNKNOWN	Het;T>G	66;7|3	Ref		Hom;T>G	114;0|4
N	N	-	1	245133549	245133551	GGC	G	indel	frameshift substitution	125_127G	 	 	 	EFCAB2	Efcab2	ENSG00000203666	EF-hand calcium binding domain 2	chr1:245133007-245290466	The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]	Tobacco Use Disorder; monocyte chemoattractant protein 1 (66-77)	 				GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFCAB2				http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB2&submit=Quick%0D%17116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB2	rs10536649	0.482029	0	0.6006	1	0	0	ncRNA_intronic	exonic	exonic	LOC101928068	EFCAB2	ENSG00000203666,ENSG00000272195	Na	frameshift substitution	unknown	Na	EFCAB2:uc001ibd.2:exon1:c.125_127G,	UNKNOWN	Het;-GC	95;8|4	Het;-GC	62;6|3	Hom;-GC	278;0|7
N	N	-	1	245133623	245133623	T	TCCTCC	indel	frameshift substitution	199_199delinsTCCTCC	 	 	 	EFCAB2	Efcab2	ENSG00000203666	EF-hand calcium binding domain 2	chr1:245133007-245290466	The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]	Tobacco Use Disorder; monocyte chemoattractant protein 1 (66-77)	 				GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFCAB2				http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB2&submit=Quick%0D%17116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB2	rs145835471	0.497204	0	0.6146	1	0	0	ncRNA_intronic	exonic	exonic	LOC101928068	EFCAB2	ENSG00000203666,ENSG00000272195	Na	frameshift substitution	unknown	Na	EFCAB2:uc001ibd.2:exon1:c.199_199delinsTCCTCC,	UNKNOWN	Het;+CCTCC	1150;34|30	Het;+CCTCC	908;31|25	Hom;+CCTCC	2106;0|46
N	N	-	1	245133662	245133662	G	C	snp	nonsynonymous SNV	G238C	G80R	aliphatic,neutral	polar,hydrophilic,charged(+)	EFCAB2	Efcab2	ENSG00000203666	EF-hand calcium binding domain 2	chr1:245133007-245290466	The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]	Tobacco Use Disorder; monocyte chemoattractant protein 1 (66-77)	 				GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EFCAB2				http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB2&submit=Quick%0D%17116ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB2	rs61844237	0.371206	0	0.5119	0.27	3	11	ncRNA_intronic	exonic	exonic	LOC101928068	EFCAB2	ENSG00000203666,ENSG00000272195	Na	nonsynonymous SNV	unknown	Na	EFCAB2:uc001ibd.2:exon1:c.G238C:p.G80R,	UNKNOWN	Het;G>C	943;62|45	Het;G>C	692;39|32	Hom;G>C	2044;0|77
N	N	-	1	248129240	248129240	G	A	snp	nonsynonymous SNV	G607A	V203M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	OR2AK2	Olfr320	ENSG00000187080		chr1:248128535-248129641	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR2AK2				http://www.informatics.jax.org/searchtool/Search.do?query=OR2AK2&submit=Quick%0D%15773ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2AK2	rs4478844	0.43131	0.4895	0.5658	0.42	5	12	exonic	exonic	exonic	OR2AK2	OR2AK2	ENSG00000187080	nonsynonymous SNV	nonsynonymous SNV	unknown	OR2AK2:NM_001004491:exon1:c.G607A:p.V203M,	OR2AK2:uc010pzd.2:exon1:c.G607A:p.V203M,	UNKNOWN	Het;G>A	1484;59|67	Het;G>A	1635;78|73	Hom;G>A	4413;0|159
N	N	-	1	31208042	31208042	C	T	snp	nonsynonymous SNV	G677A	R226K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	LAPTM5	Laptm5	ENSG00000162511	lysosomal protein transmembrane 5	chr1:31205316-31230667	This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009]	HIV Infections|[X]Human immunodeficiency virus disease	Mice homozygous for a null allele exhibit increased T cell proliferation, increased IL-2 production and a prolognged type IV hypersensitivity response.		GO:0006810;transport;IEA	GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LAPTM5			https://www.ncbi.nlm.nih.gov/omim/?term=601476	http://www.informatics.jax.org/searchtool/Search.do?query=LAPTM5&submit=Quick%0D%10719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAPTM5	rs35351292	0.115415	0.1954	0.1979	0.08	1	13	exonic	exonic	exonic	LAPTM5	LAPTM5	ENSG00000162511	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	LAPTM5:NM_006762:exon7:c.G677A:p.R226K,	LAPTM5:uc001bsc.2:exon7:c.G677A:p.R226K,	ENSG00000162511:ENST00000294507:exon7:c.G677A:p.R226K,	Het;C>T	844;38|38	Het;C>T	687;38|34	Hom;C>T	1948;0|75
N	N	-	1	31905889	31905889	A	ACAG	indel	nonframeshift substitution	1116_1116delinsACAG	 	 	 	SERINC2	Serinc2	ENSG00000168528	serine incorporator 2	chr1:31882412-31907525			 	Serine biosynthesis	GO:0006658;phosphatidylserine metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0015825;L-serine transport;IEA|GO:1904219;positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity;IEA|GO:1904222;positive regulation of serine C-palmitoyltransferase activity;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0015194;L-serine transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SERINC2			https://www.ncbi.nlm.nih.gov/omim/?term=614549	http://www.informatics.jax.org/searchtool/Search.do?query=SERINC2&submit=Quick%0D%12293ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERINC2	rs3050461	0.739018	0.8244	0.7309	1	0	0	exonic	exonic	exonic	SERINC2	SERINC2	ENSG00000168528	nonframeshift substitution	nonframeshift substitution	nonframeshift substitution	SERINC2:NM_001199038:exon10:c.1116_1116delinsACAG,SERINC2:NM_001199037:exon9:c.1101_1101delinsACAG,SERINC2:NM_178865:exon9:c.1089_1089delinsACAG,SERINC2:NM_001199039:exon10:c.924_924delinsACAG,SERINC2:NM_018565:exon9:c.1101_1101delinsACAG,	SERINC2:uc001bst.3:exon9:c.1089_1089delinsACAG,SERINC2:uc010ogh.2:exon9:c.1101_1101delinsACAG,SERINC2:uc021okm.1:exon10:c.1116_1116delinsACAG,SERINC2:uc010ogg.2:exon9:c.1101_1101delinsACAG,SERINC2:uc001bsu.3:exon10:c.924_924delinsACAG,	ENSG00000168528:ENST00000536384:exon9:c.1101_1101delinsACAG,ENSG00000168528:ENST00000373710:exon10:c.1116_1116delinsACAG,ENSG00000168528:ENST00000536859:exon9:c.1101_1101delinsACAG,ENSG00000168528:ENST00000373709:exon9:c.1089_1089delinsACAG,	Het;+CAG	6077;12|147	Het;+CAG	2343;74|61	Hom;+CAG	3833;9|144
N	N	-	1	33231380	33231380	T	G	snp	nonsynonymous SNV	T10G	F4V	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	KIAA1522	C77080	ENSG00000162522	KIAA1522	chr1:33207486-33240571			 		GO:0030154;cell differentiation;IBA			http://www.genecards.org/index.php?path=/Search/keyword/KIAA1522				http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1522&submit=Quick%0D%10724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1522	rs6694085	0.141374	0	0.2085	0.33	4	12	exonic	exonic	exonic	KIAA1522	KIAA1522	ENSG00000162522	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	KIAA1522:NM_001198973:exon1:c.T10G:p.F4V,KIAA1522:NM_001198972:exon1:c.T10G:p.F4V,	KIAA1522:uc010ohn.1:exon1:c.T10G:p.F4V,KIAA1522:uc001bvv.2:exon1:c.T10G:p.F4V,	ENSG00000162522:ENST00000294521:exon1:c.T10G:p.F4V,ENSG00000162522:ENST00000373480:exon1:c.T10G:p.F4V,	Het;T>G	1764;59|49	Het;T>G	1100;45|52	Hom;T>G	2958;2|114
N	N	-	1	33820134	33820134	C	T	snp	nonsynonymous SNV	G1339A	V447M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	PHC2	Phc2	ENSG00000134686	polyhomeotic homolog 2	chr1:33789224-33896653	In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Prostatic Neoplasms; Tobacco Use Disorder	Mice homozygous for a knock-out allele have normal skulls but exhibit posterior homeotic transformations of the axial skeleton. Cultured mouse embryonic fibroblasts show defects in proliferation and premature senescence.	Regulation of PTEN gene transcription	GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA	GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0031519;PcG protein complex;IDA|GO:0035102;PRC1 complex;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PHC2	https://www.uniprot.org/uniprot/Q8IXK0		https://www.ncbi.nlm.nih.gov/omim/?term=602979	http://www.informatics.jax.org/searchtool/Search.do?query=PHC2&submit=Quick%0D%7014ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PHC2	rs12026290	0.171526	0.1771	0.2117	0.15	2	13	exonic	exonic	exonic	PHC2	PHC2	ENSG00000134686	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	PHC2:NM_198040:exon8:c.G1423A:p.V475M,	PHC2:uc001bxh.1:exon7:c.G1339A:p.V447M,PHC2:uc001bxg.1:exon8:c.G1423A:p.V475M,PHC2:uc009vuh.1:exon9:c.G1426A:p.V476M,	ENSG00000134686:ENST00000419414:exon9:c.G1426A:p.V476M,ENSG00000134686:ENST00000373422:exon2:c.G241A:p.V81M,ENSG00000134686:ENST00000431992:exon7:c.G1336A:p.V446M,ENSG00000134686:ENST00000257118:exon8:c.G1423A:p.V475M,	Het;C>T	781;56|37	Het;C>T	952;50|47	Hom;C>T	2148;0|80
N	N	-	1	36202585	36202585	G	A	snp	nonsynonymous SNV	C3647T	S1216L	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	CLSPN	Clspn	ENSG00000092853	claspin	chr1:36185819-36235568	The product of this gene is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in response to replicative stress or DNA damage. The protein is also required for efficient DNA replication during a normal S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]	breast cancer; Bipolar Disorder	Mice homozygous for a null mutation display embryonic lethality during organogenesis.	Processing of DNA double-strand break ends	GO:0000077;DNA damage checkpoint;IMP|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0016579;protein deubiquitination;TAS|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0031572;G2 DNA damage checkpoint;IDA|GO:0032147;activation of protein kinase activity;IDA|GO:0033314;mitotic DNA replication checkpoint;IMP|GO:0097194;execution phase of apoptosis;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005794;Golgi apparatus;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0010997;anaphase-promoting complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CLSPN	https://www.uniprot.org/uniprot/Q9HAW4		https://www.ncbi.nlm.nih.gov/omim/?term=605434	http://www.informatics.jax.org/searchtool/Search.do?query=CLSPN&submit=Quick%0D%2204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLSPN	rs35490896	0.0503195	0.0707	0.0563	0.38	5	13	exonic	exonic	exonic	CLSPN	CLSPN	ENSG00000092853	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CLSPN:NM_001190481:exon23:c.C3647T:p.S1216L,CLSPN:NM_022111:exon24:c.C3839T:p.S1280L,	CLSPN:uc009vux.3:exon23:c.C3647T:p.S1216L,CLSPN:uc001bzi.3:exon24:c.C3839T:p.S1280L,	ENSG00000092853:ENST00000251195:exon24:c.C3839T:p.S1280L,ENSG00000092853:ENST00000373220:exon23:c.C3647T:p.S1216L,ENSG00000092853:ENST00000520551:exon24:c.C3680T:p.S1227L,ENSG00000092853:ENST00000318121:exon24:c.C3839T:p.S1280L,	Het;G>A	1023;49|46	Het;G>A	962;49|45	Hom;G>A	3117;0|111
N	N	-	1	36203659	36203662	TTTC	T	indel	nonframeshift substitution	3403_3406A	 	 	 	CLSPN	Clspn	ENSG00000092853	claspin	chr1:36185819-36235568	The product of this gene is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in response to replicative stress or DNA damage. The protein is also required for efficient DNA replication during a normal S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]	breast cancer; Bipolar Disorder	Mice homozygous for a null mutation display embryonic lethality during organogenesis.	Processing of DNA double-strand break ends	GO:0000077;DNA damage checkpoint;IMP|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0016579;protein deubiquitination;TAS|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0031572;G2 DNA damage checkpoint;IDA|GO:0032147;activation of protein kinase activity;IDA|GO:0033314;mitotic DNA replication checkpoint;IMP|GO:0097194;execution phase of apoptosis;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005794;Golgi apparatus;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0010997;anaphase-promoting complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CLSPN	https://www.uniprot.org/uniprot/Q9HAW4		https://www.ncbi.nlm.nih.gov/omim/?term=605434	http://www.informatics.jax.org/searchtool/Search.do?query=CLSPN&submit=Quick%0D%2204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLSPN	rs200760879	0.028155	0.0462	0.0490	1	0	0	exonic	exonic	exonic	CLSPN	CLSPN	ENSG00000092853	nonframeshift substitution	nonframeshift substitution	nonframeshift substitution	CLSPN:NM_001190481:exon21:c.3403_3406A,CLSPN:NM_022111:exon22:c.3595_3598A,	CLSPN:uc009vux.3:exon21:c.3403_3406A,CLSPN:uc001bzi.3:exon22:c.3595_3598A,	ENSG00000092853:ENST00000251195:exon22:c.3595_3598A,ENSG00000092853:ENST00000373220:exon21:c.3403_3406A,ENSG00000092853:ENST00000520551:exon22:c.3436_3439A,ENSG00000092853:ENST00000318121:exon22:c.3595_3598A,	Het;-TTC	992;21|26	Het;-TTC	1275;25|34	Hom;-TTC	2939;1|68
N	N	-	1	38155287	38155287	C	T	snp	nonsynonymous SNV	G266A	G89E	aliphatic,neutral	polar,hydrophilic,charged(-)	C1orf109	9930104L06Rik	ENSG00000116922	chromosome 1 open reading frame 109	chr1:38147242-38157914			 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C1orf109	https://www.uniprot.org/uniprot/Q9NX04		https://www.ncbi.nlm.nih.gov/omim/?term=614799	http://www.informatics.jax.org/searchtool/Search.do?query=C1orf109&submit=Quick%0D%4812ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C1orf109	rs141954200	0.000599042	0.0003	0.0006	0.00	0	12	exonic	exonic	exonic	C1orf109	C1orf109	ENSG00000116922	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	C1orf109:NM_017850:exon2:c.G266A:p.G89E,C1orf109:NM_001303030:exon2:c.G452A:p.G151E,C1orf109:NM_001303031:exon2:c.G455A:p.G152E,	C1orf109:uc001cbp.3:exon2:c.G266A:p.G89E,C1orf109:uc010oig.2:exon2:c.G455A:p.G152E,C1orf109:uc001cbo.3:exon2:c.G452A:p.G151E,	ENSG00000116922:ENST00000486637:exon2:c.G266A:p.G89E,ENSG00000116922:ENST00000491981:exon2:c.G266A:p.G89E,ENSG00000116922:ENST00000464085:exon2:c.G266A:p.G89E,ENSG00000116922:ENST00000461359:exon2:c.G266A:p.G89E,ENSG00000116922:ENST00000358011:exon2:c.G266A:p.G89E,ENSG00000116922:ENST00000477060:exon2:c.G266A:p.G89E,	Het;C>T	696;44|31	Het;C>T	941;27|36	Hom;C>T	2415;2|63
N	N	-	1	40315888	40315888	A	T	snp	nonsynonymous SNV	T606A	F202L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TRIT1	Trit1	ENSG00000043514	tRNA isopentenyltransferase 1	chr1:40306723-40349183	This gene encodes a protein that that is targeted to the mitochondrion and modifies transfer RNAs (tRNAs) by adding a dimethylallyl group onto the adenine at position 37. This modification is important for maintaining the correct reading frame during protein translation. This gene is considered a tumor suppressor and its expression can decrease cell growth. Alternative splicing results in multiple transcripts variants, most of which are likely non-functional. [provided by RefSeq, Aug 2015]	Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; lung cancer; breast cancer	Mice homozygous for a knock-out allele show normal blastocyst formation but exhibit complete embryonic lethality between implantation and somite formation.	tRNA modification in the mitochondrion	GO:0008033;tRNA processing;IEA|GO:0009058;biosynthetic process;IEA|GO:0070900;mitochondrial tRNA modification;TAS	GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0004161;dimethylallyltranstransferase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0052381;tRNA dimethylallyltransferase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/TRIT1	https://www.uniprot.org/uniprot/Q9H3H1	https://hpo.jax.org/app/browse/search?q=TRIT1&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=TRIT1&submit=Quick%0D%847ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIT1	rs3738671	0.171126	0.0899	0.1041	0.15	2	13	exonic	exonic	exonic	TRIT1	TRIT1	ENSG00000043514	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	TRIT1:NM_017646:exon5:c.T606A:p.F202L,	TRIT1:uc021olz.1:exon5:c.T606A:p.F202L,TRIT1:uc001cem.3:exon3:c.T366A:p.F122L,TRIT1:uc009vvv.3:exon3:c.T183A:p.F61L,	ENSG00000043514:ENST00000441669:exon3:c.T366A:p.F122L,ENSG00000043514:ENST00000469476:exon4:c.T414A:p.F138L,ENSG00000043514:ENST00000462797:exon5:c.T606A:p.F202L,ENSG00000043514:ENST00000372818:exon5:c.T606A:p.F202L,ENSG00000043514:ENST00000316891:exon5:c.T606A:p.F202L,	Het;A>T	1382;72|67	Het;A>T	1326;80|67	Hom;A>T	3664;2|140
N	N	-	1	42050366	42050366	C	T	snp	nonsynonymous SNV	G103A	V35I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HIVEP3	Hivep3	ENSG00000127124	human immunodeficiency virus type I enhancer binding protein 3	chr1:41972036-42501596	This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011]	Mental Competency; Tobacco Use Disorder; Echocardiography; Parkinson's disease; Ocular Physiological Phenomena; Type 2 Diabetes| edema | rosiglitazone; Neuropsychological Tests	Homozygous mutation of this gene results in diminished IL-2 production by stimulated CD4 cells. Mice homozygous for a knock-out allele exhibit increased bone volume.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIVEP3	https://www.uniprot.org/uniprot/Q5T1R4		https://www.ncbi.nlm.nih.gov/omim/?term=606649	http://www.informatics.jax.org/searchtool/Search.do?query=HIVEP3&submit=Quick%0D%6007ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIVEP3	rs2146315	0.309305	0.2550	0.2722	0.15	2	13	exonic	exonic	exonic	HIVEP3	HIVEP3	ENSG00000127124	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	HIVEP3:NM_024503:exon4:c.G103A:p.V35I,HIVEP3:NM_001127714:exon3:c.G103A:p.V35I,	HIVEP3:uc001cgz.4:exon4:c.G103A:p.V35I,HIVEP3:uc001cha.4:exon3:c.G103A:p.V35I,	ENSG00000127124:ENST00000429157:exon3:c.G103A:p.V35I,ENSG00000127124:ENST00000372584:exon3:c.G103A:p.V35I,ENSG00000127124:ENST00000247584:exon3:c.G103A:p.V35I,ENSG00000127124:ENST00000372583:exon4:c.G103A:p.V35I,	Het;C>T	1819;129|81	Het;C>T	2540;118|113	Hom;C>T	6178;2|224
N	N	-	1	45797505	45797505	C	G	snp	nonsynonymous SNV	G972C	Q324H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	MUTYH	Mutyh	ENSG00000132781	mutY DNA glycosylase	chr1:45794835-45806142	This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Endometrial Cancer; breast cancer ; oral cancer; colorectal cancer; Adenomatous Polyposis Coli|Colonic Polyps; multiple sclerosis; Adenomatous Polyposis Coli|; prostate cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; lung cancer; bladder cancer; null; Adenomatous Polyposis Coli|Microsatellite Instability; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; head and neck cancer; Adenomatous Polyposis Coli; Chronic renal failure|Kidney Failure, Chronic; breast cancer; familial adenomatous polyposis; Colorectal Neoplasms|Intestinal Polyposis; Acquired Immunodeficiency Syndrome|Disease Progression; Graft vs Host Disease; colon polyps; esophageal adenocarcinoma; Hematologic Neoplasms; benzene toxicity; colorectal cancer endometrial cancer; germline mutations; lung cancer ; Adenoma|Colorectal Neoplasms; colorectal cancer; colon polyps; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; breast cancer|colorectal cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms; Occupational Diseases|Poisoning; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Colorectal Neoplasms, Hereditary Nonpolyposis; Adenomatous Polyposis Coli|Adenomatous Polyps; Colorectal Neoplasms	Homozygous mutant mice are viable and show no increase in tumor incidence relative to wild-type through 17 months of age.	Displacement of DNA glycosylase by APEX1	GO:0006281;DNA repair;TAS|GO:0006284;base-excision repair;IEA|GO:0006298;mismatch repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0008152;metabolic process;IEA|GO:0045007;depurination;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IEA	GO:0000701;purine-specific mismatch base pair DNA N-glycosylase activity;IMP|GO:0003677;DNA binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0019104;DNA N-glycosylase activity;TAS|GO:0032407;MutSalpha complex binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MUTYH	https://www.uniprot.org/uniprot/Q9UIF7	https://hpo.jax.org/app/browse/search?q=MUTYH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604933	http://www.informatics.jax.org/searchtool/Search.do?query=MUTYH&submit=Quick%0D%6741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUTYH	rs3219489	0.313498	0.2541	0.2967	0.23	3	13	exonic	exonic	exonic	MUTYH	MUTYH	ENSG00000132781	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	MUTYH:NM_001048171:exon12:c.G972C:p.Q324H,MUTYH:NM_001048172:exon12:c.G933C:p.Q311H,MUTYH:NM_001293195:exon13:c.G930C:p.Q310H,MUTYH:NM_001293196:exon12:c.G654C:p.Q218H,MUTYH:NM_001293190:exon12:c.G975C:p.Q325H,MUTYH:NM_001048173:exon12:c.G930C:p.Q310H,MUTYH:NM_001128425:exon12:c.G1014C:p.Q338H,MUTYH:NM_001293192:exon12:c.G654C:p.Q218H,MUTYH:NM_012222:exon12:c.G1005C:p.Q335H,MUTYH:NM_001293191:exon12:c.G963C:p.Q321H,MUTYH:NM_001048174:exon12:c.G930C:p.Q310H,	MUTYH:uc001cnl.3:exon12:c.G972C:p.Q324H,MUTYH:uc001cnm.3:exon12:c.G1005C:p.Q335H,MUTYH:uc009vxo.3:exon13:c.G930C:p.Q310H,MUTYH:uc001cnh.3:exon12:c.G933C:p.Q311H,MUTYH:uc001cno.3:exon12:c.G654C:p.Q218H,MUTYH:uc001cnn.3:exon12:c.G975C:p.Q325H,MUTYH:uc009vxp.3:exon12:c.G1014C:p.Q338H,MUTYH:uc001cng.3:exon12:c.G963C:p.Q321H,MUTYH:uc001cni.3:exon12:c.G930C:p.Q310H,MUTYH:uc001cnj.3:exon12:c.G654C:p.Q218H,MUTYH:uc001cnf.3:exon12:c.G930C:p.Q310H,	ENSG00000132781:ENST00000372104:exon13:c.G930C:p.Q310H,ENSG00000132781:ENST00000528013:exon12:c.G972C:p.Q324H,ENSG00000132781:ENST00000448481:exon12:c.G963C:p.Q321H,ENSG00000132781:ENST00000412971:exon7:c.G546C:p.Q182H,ENSG00000132781:ENST00000372115:exon12:c.G972C:p.Q324H,ENSG00000132781:ENST00000372100:exon12:c.G963C:p.Q321H,ENSG00000132781:ENST00000456914:exon12:c.G930C:p.Q310H,ENSG00000132781:ENST00000355498:exon12:c.G930C:p.Q310H,ENSG00000132781:ENST00000372098:exon12:c.G1005C:p.Q335H,ENSG00000132781:ENST00000467459:exon4:c.G347C:p.S116T,ENSG00000132781:ENST00000372110:exon12:c.G975C:p.Q325H,ENSG00000132781:ENST00000450313:exon12:c.G1014C:p.Q338H,ENSG00000132781:ENST00000354383:exon12:c.G933C:p.Q311H,	Het;C>G	2197;73|87	Het;C>G	1822;72|72	Hom;C>G	3697;4|135
N	N	-	1	47607785	47607785	G	A	snp	nonsynonymous SNV	G388A	G130S	aliphatic,neutral	polar,hydrophilic,neutral	CYP4A22	Cyp4a12b	ENSG00000162365	cytochrome P450 family 4 subfamily A member 22	chr1:47603107-47615413	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]		 	Synthesis of Leukotrienes (LT) and Eoxins (EX)	GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22			https://www.ncbi.nlm.nih.gov/omim/?term=615341	http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22	rs2056900	0.336262	0.2105	0.2694	0.62	8	13	exonic	exonic	exonic	CYP4A22	CYP4A22	ENSG00000162365	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CYP4A22:NM_001010969:exon4:c.G388A:p.G130S,	CYP4A22:uc009vyp.3:exon4:c.G388A:p.G130S,CYP4A22:uc001cqv.1:exon4:c.G388A:p.G130S,CYP4A22:uc009vyo.3:exon4:c.G388A:p.G130S,	ENSG00000162365:ENST00000294337:exon4:c.G388A:p.G130S,ENSG00000162365:ENST00000371890:exon4:c.G388A:p.G130S,ENSG00000162365:ENST00000371891:exon4:c.G388A:p.G130S,	Het;G>A	1294;37|37	Het;G>A	615;43|28	Hom;G>A	1353;0|47
N	N	-	1	47608983	47608983	G	T	snp	nonsynonymous SNV	G553T	V185F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	CYP4A22	Cyp4a12b	ENSG00000162365	cytochrome P450 family 4 subfamily A member 22	chr1:47603107-47615413	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]		 	Synthesis of Leukotrienes (LT) and Eoxins (EX)	GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22			https://www.ncbi.nlm.nih.gov/omim/?term=615341	http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22	rs4926581	0.335663	0.2105	0.2679	0.38	5	13	exonic	exonic	exonic	CYP4A22	CYP4A22	ENSG00000162365	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CYP4A22:NM_001010969:exon5:c.G553T:p.V185F,	CYP4A22:uc009vyp.3:exon5:c.G553T:p.V185F,CYP4A22:uc001cqv.1:exon5:c.G553T:p.V185F,CYP4A22:uc009vyo.3:exon5:c.G553T:p.V185F,	ENSG00000162365:ENST00000294337:exon5:c.G553T:p.V185F,ENSG00000162365:ENST00000371890:exon5:c.G553T:p.V185F,ENSG00000162365:ENST00000371891:exon5:c.G553T:p.V185F,	Het;G>T	2232;106|100	Het;G>T	1965;80|88	Hom;G>T	4582;2|175
N	N	-	1	47610065	47610065	A	C	snp	nonsynonymous SNV	A672C	E224D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	CYP4A22	Cyp4a12b	ENSG00000162365	cytochrome P450 family 4 subfamily A member 22	chr1:47603107-47615413	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]		 	Synthesis of Leukotrienes (LT) and Eoxins (EX)	GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22			https://www.ncbi.nlm.nih.gov/omim/?term=615341	http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22	rs6661132	0.141773	0.0667	0.1153	0.23	3	13	exonic	exonic	exonic	CYP4A22	CYP4A22	ENSG00000162365	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CYP4A22:NM_001010969:exon7:c.A827C:p.K276T,	CYP4A22:uc009vyp.3:exon6:c.A672C:p.E224D,CYP4A22:uc001cqv.1:exon7:c.A827C:p.K276T,CYP4A22:uc009vyo.3:exon7:c.A827C:p.K276T,	ENSG00000162365:ENST00000294337:exon7:c.A827C:p.K276T,ENSG00000162365:ENST00000371890:exon6:c.A672C:p.E224D,ENSG00000162365:ENST00000371891:exon7:c.A827C:p.K276T,	Het;A>C	1159;55|52	Het;A>C	1223;53|51	Hom;A>C	2185;2|77
N	N	-	1	47614434	47614434	C	T	snp	nonsynonymous SNV	C1525T	L509F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	CYP4A22	Cyp4a12b	ENSG00000162365	cytochrome P450 family 4 subfamily A member 22	chr1:47603107-47615413	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]		 	Synthesis of Leukotrienes (LT) and Eoxins (EX)	GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22			https://www.ncbi.nlm.nih.gov/omim/?term=615341	http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22	rs4926600	0.152556	0.076	0.1224	0.31	4	13	exonic	exonic	exonic	CYP4A22	CYP4A22	ENSG00000162365	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	CYP4A22:NM_001010969:exon12:c.C1525T:p.L509F,	CYP4A22:uc001cqv.1:exon12:c.C1525T:p.L509F,	ENSG00000162365:ENST00000371890:exon10:c.C1231T:p.L411F,ENSG00000162365:ENST00000371891:exon12:c.C1525T:p.L509F,	Het;C>T	3273;155|150	Het;C>T	2696;126|124	Hom;C>T	6147;2|229
N	N	-	1	53535478	53535478	G	A	snp	nonsynonymous SNV	G38A	R13H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	PODN	Podn	ENSG00000174348	podocan	chr1:53527854-53551174	The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016]	Type 2 Diabetes| edema | rosiglitazone	 		GO:0006469;negative regulation of protein kinase activity;IBA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0030336;negative regulation of cell migration;IDA|GO:0046426;negative regulation of JAK-STAT cascade;IBA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA	GO:0004860;protein kinase inhibitor activity;IBA|GO:0005518;collagen binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PODN			https://www.ncbi.nlm.nih.gov/omim/?term=608661	http://www.informatics.jax.org/searchtool/Search.do?query=PODN&submit=Quick%0D%13510ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PODN	rs1288386	0.357428	0.3408	0.5010	0.09	1	11	exonic	exonic	exonic	PODN	PODN	ENSG00000174348	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	PODN:NM_001199080:exon4:c.G38A:p.R13H,PODN:NM_001199082:exon2:c.G95A:p.R32H,PODN:NM_001199081:exon3:c.G38A:p.R13H,PODN:NM_153703:exon2:c.G95A:p.R32H,	PODN:uc001cuw.3:exon4:c.G38A:p.R13H,PODN:uc010ons.2:exon2:c.G95A:p.R32H,PODN:uc010onr.2:exon3:c.G38A:p.R13H,PODN:uc001cuv.3:exon2:c.G95A:p.R32H,	ENSG00000174348:ENST00000371500:exon4:c.G38A:p.R13H,ENSG00000174348:ENST00000395871:exon2:c.G95A:p.R32H,ENSG00000174348:ENST00000312553:exon2:c.G95A:p.R32H,	Het;G>A	826;24|33	Het;G>A	725;24|31	Hom;G>A	1247;2|48
N	N	-	1	62261168	62261168	A	G	snp	nonsynonymous SNV	A1198G	I400V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	INADL	 																	rs7516332	0.434904	0.4031	0.4909	0.15	2	13	exonic	exonic	exonic	INADL	INADL	ENSG00000132849	nonsynonymous SNV	nonsynonymous SNV	nonsynonymous SNV	INADL:NM_176877:exon10:c.A1198G:p.I400V,	INADL:uc001dab.3:exon10:c.A1198G:p.I400V,INADL:uc001dad.3:exon5:c.A289G:p.I97V,INADL:uc001daa.2:exon10:c.A1198G:p.I400V,INADL:uc009waf.1:exon10:c.A1198G:p.I400V,	ENSG00000132849:ENST00000316485:exon10:c.A1198G:p.I400V,ENSG00000132849:ENST00000371158:exon10:c.A1198G:p.I400V,	Het;A>G	584;31|30	Het;A>G	980;30|44	Hom;A>G	1483;0|55
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	31671209	31671209	G	C	snp	nonsynonymous SNV	G206C	R69P	polar,hydrophilic,charged(+)	hydrophobic,neutral	BPIFB4	Bpifb4	ENSG00000186191	BPI fold containing family B member 4	chr20:31667450-31699557			 	Antimicrobial peptides		GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA	GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4			https://www.ncbi.nlm.nih.gov/omim/?term=615718	http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4	rs13036385	0.215655	0.2271	0.2422	0.33	4	12	exonic	exonic	exonic	BPIFB4	BPIFB4	ENSG00000186191	nonsynonymous SNV	nonsynonymous SNV	unknown	BPIFB4:NM_182519:exon3:c.G206C:p.R69P,	BPIFB4:uc010zue.2:exon3:c.G206C:p.R69P,	UNKNOWN	Het;G>C	790;51|35	Het;G>C	1227;40|53	Hom;G>C	1919;2|71
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	31671599	31671599	A	G	snp	nonsynonymous SNV	A596G	D199G	polar,hydrophilic,charged(-)	aliphatic,neutral	BPIFB4	Bpifb4	ENSG00000186191	BPI fold containing family B member 4	chr20:31667450-31699557			 	Antimicrobial peptides		GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA	GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4			https://www.ncbi.nlm.nih.gov/omim/?term=615718	http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4	rs4339026	0.233227	0.2401	0.2467	0.31	4	13	exonic	exonic	exonic	BPIFB4	BPIFB4	ENSG00000186191	nonsynonymous SNV	nonsynonymous SNV	unknown	BPIFB4:NM_182519:exon3:c.A596G:p.D199G,	BPIFB4:uc010zue.2:exon3:c.A596G:p.D199G,	UNKNOWN	Het;A>G	1514;85|67	Het;A>G	1381;83|64	Hom;A>G	3059;0|108
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	31688241	31688241	T	C	snp	nonsynonymous SNV	T1579C	F527L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	BPIFB4	Bpifb4	ENSG00000186191	BPI fold containing family B member 4	chr20:31667450-31699557			 	Antimicrobial peptides		GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA	GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4			https://www.ncbi.nlm.nih.gov/omim/?term=615718	http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4	rs11699009	0.515775	0.6356	0.5666	0.23	3	13	exonic	exonic	exonic	BPIFB4	BPIFB4	ENSG00000186191	nonsynonymous SNV	nonsynonymous SNV	unknown	BPIFB4:NM_182519:exon12:c.T1579C:p.F527L,	BPIFB4:uc010zue.2:exon12:c.T1579C:p.F527L,	UNKNOWN	Het;T>C	807;53|36	Het;T>C	513;49|30	Hom;T>C	1824;2|66
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	31688260	31688260	C	T	snp	nonsynonymous SNV	C1598T	T533I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	BPIFB4	Bpifb4	ENSG00000186191	BPI fold containing family B member 4	chr20:31667450-31699557			 	Antimicrobial peptides		GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA	GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4			https://www.ncbi.nlm.nih.gov/omim/?term=615718	http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4	rs11696307	0.472644	0.5920	0.5539	0.23	3	13	exonic	exonic	exonic	BPIFB4	BPIFB4	ENSG00000186191	nonsynonymous SNV	nonsynonymous SNV	unknown	BPIFB4:NM_182519:exon12:c.C1598T:p.T533I,	BPIFB4:uc010zue.2:exon12:c.C1598T:p.T533I,	UNKNOWN	Het;C>T	788;56|40	Het;C>T	472;66|31	Hom;C>T	1787;2|72
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	32266134	32266134	C	T	snp	nonsynonymous SNV	G598A	G200S	aliphatic,neutral	polar,hydrophilic,neutral	E2F1	E2f1	ENSG00000101412	E2F transcription factor 1	chr20:32263489-32274210	The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain.  This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008]	Bone Mineral Density; ovarian cancer; Lung carcinomas; epithelial ovarian cancer 	Homozygous mutants show defective T lymphocyte development, impaired pancreatic growth and beta cell function, altered glucose homeostasis, testicular atrophy, salivary gland and adipose tissue defects, and increased tumor induction.	Activation of E2F1 target genes at G1/S	GO:0000077;DNA damage checkpoint;IMP|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007283;spermatogenesis;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:0010628;positive regulation of gene expression;IDA|GO:0030900;forebrain development;IEA|GO:0043276;anoikis;IEA|GO:0043392;negative regulation of DNA binding;IDA|GO:0045599;negative regulation of fat cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048146;positive regulation of fibroblast proliferation;IMP|GO:0048255;mRNA stabilization;IDA|GO:0051726;regulation of cell cycle;IEA|GO:0070345;negative regulation of fat cell proliferation;IEA|GO:0071398;cellular response to fatty acid;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071466;cellular response to xenobiotic stimulus;IEA|GO:0071930;negative regulation of transcription involved in G1/S transition of mitotic cell cycle;IMP|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1990086;lens fiber cell apoptotic process;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IMP	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005813;centrosome;IDA|GO:0035189;Rb-E2F complex;IDA	GO:0001047;core promoter binding;IDA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/E2F1	https://www.uniprot.org/uniprot/Q01094		https://www.ncbi.nlm.nih.gov/omim/?term=189971	http://www.informatics.jax.org/searchtool/Search.do?query=E2F1&submit=Quick%0D%2730ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=E2F1	rs35385772	0.0127796	0.0195	0.0228	0.00	0	13	exonic	exonic	exonic	E2F1	E2F1	ENSG00000101412	nonsynonymous SNV	nonsynonymous SNV	unknown	E2F1:NM_005225:exon4:c.G598A:p.G200S,	E2F1:uc002wzu.4:exon4:c.G598A:p.G200S,	UNKNOWN	Het;C>T	1155;39|52	Het;C>T	1024;27|49	Hom;C>T	2459;0|91
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	33587198	33587198	G	C	snp	nonsynonymous SNV	G4656C	K1552N	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	MYH7B	Myh7b	ENSG00000078814	myosin heavy chain 7B	chr20:33563206-33590240	The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010]	breast cancer ; Blood Coagulation Factor Inhibitors; melanoma|Skin Neoplasms; bladder cancer; Type 2 Diabetes| edema | rosiglitazone	 	Translocation of GLUT4 to the plasma membrane		GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0032982;myosin filament;IEA|GO:0097512;cardiac myofibril;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYH7B	https://www.uniprot.org/uniprot/A7E2Y1		https://www.ncbi.nlm.nih.gov/omim/?term=609928	http://www.informatics.jax.org/searchtool/Search.do?query=MYH7B&submit=Quick%0D%1678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH7B	rs3746435	0.171526	0.1756	0.2690	0.83	10	12	exonic	exonic	exonic	MYH7B	MYH7B	ENSG00000078814	nonsynonymous SNV	nonsynonymous SNV	unknown	MYH7B:NM_020884:exon36:c.G4656C:p.K1552N,	MYH7B:uc002xbi.2:exon36:c.G4656C:p.K1552N,	UNKNOWN	Het;G>C	1154;59|48	Het;G>C	979;53|42	Hom;G>C	2344;0|82
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	33588698	33588720	TGAGGCTGGGCAAGGGCTGTGGG	T	indel	splicing	 	 	 	 	MYH7B	Myh7b	ENSG00000078814	myosin heavy chain 7B	chr20:33563206-33590240	The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010]	breast cancer ; Blood Coagulation Factor Inhibitors; melanoma|Skin Neoplasms; bladder cancer; Type 2 Diabetes| edema | rosiglitazone	 	Translocation of GLUT4 to the plasma membrane		GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0032982;myosin filament;IEA|GO:0097512;cardiac myofibril;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYH7B	https://www.uniprot.org/uniprot/A7E2Y1		https://www.ncbi.nlm.nih.gov/omim/?term=609928	http://www.informatics.jax.org/searchtool/Search.do?query=MYH7B&submit=Quick%0D%1678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH7B	rs367622744	0.170927	0.1804	0.1915	1	0	0	splicing	splicing	splicing	MYH7B	MYH7B	ENSG00000078814	Na	Na	Na	Na	Na	Na	Het;-GAGGCTGGGCAAGGGCTGTGGG	2375;97|67	Het;-GAGGCTGGGCAAGGGCTGTGGG	2062;98|57	Hom;-GAGGCTGGGCAAGGGCTGTGGG	4589;1|111
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	33703607	33703607	C	T	snp	nonsynonymous SNV	G1366A	A456T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	EDEM2	Edem2	ENSG00000088298	ER degradation enhancing alpha-mannosidase like protein 2	chr20:33703167-33865928	In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008]	Protein C	 	ER Quality Control Compartment (ERQC)	GO:0006491;N-glycan processing;IBA|GO:0006986;response to unfolded protein;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0030968;endoplasmic reticulum unfolded protein response;IBA|GO:0036509;trimming of terminal mannose on B branch;TAS|GO:0036510;trimming of terminal mannose on C branch;TAS|GO:0036511;trimming of first mannose on A branch;TAS|GO:0036512;trimming of second mannose on A branch;TAS|GO:0097466;ubiquitin-dependent glycoprotein ERAD pathway;IMP|GO:1904154;positive regulation of retrograde protein transport, ER to cytosol;IGI|GO:1904382;mannose trimming involved in glycoprotein ERAD pathway;IMP	GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0016020;membrane;IEA|GO:0044322;endoplasmic reticulum quality control compartment;TAS	GO:0001948;glycoprotein binding;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0004571;mannosyl-oligosaccharide 1,2-alpha-mannosidase activity;IMP|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EDEM2	https://www.uniprot.org/uniprot/Q9BV94		https://www.ncbi.nlm.nih.gov/omim/?term=610302	http://www.informatics.jax.org/searchtool/Search.do?query=EDEM2&submit=Quick%0D%1995ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EDEM2	rs3746429	0.113818	0.1284	0.1585	0.08	1	13	exonic	exonic	exonic	EDEM2	EDEM2	ENSG00000088298	nonsynonymous SNV	nonsynonymous SNV	unknown	EDEM2:NM_001145025:exon10:c.G1255A:p.A419T,EDEM2:NM_018217:exon11:c.G1366A:p.A456T,	EDEM2:uc002xbo.2:exon11:c.G1366A:p.A456T,EDEM2:uc002xbn.2:exon9:c.G910A:p.A304T,EDEM2:uc002xbq.2:exon10:c.G1255A:p.A419T,EDEM2:uc010zus.1:exon10:c.G703A:p.A235T,EDEM2:uc010zuu.1:exon9:c.G538A:p.A180T,EDEM2:uc010zut.1:exon10:c.G1243A:p.A415T,	UNKNOWN	Het;C>T	1433;62|64	Het;C>T	1077;46|46	Hom;C>T	2092;0|79
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	34022387	34022387	A	C	snp	nonsynonymous SNV	T826G	S276A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	GDF5	Gdf5	ENSG00000125965	growth differentiation factor 5	chr20:34021145-34042568	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]	Fractures, Bone|Osteoarthritis|Osteoarthritis, Knee; Degenerative arthropathy |Osteoarthritis; Osteoarthritis; Osteoarthritis, Hip|Osteoarthritis, Knee; Height; Hip Dislocation, Congenital; Osteoarthritis|Osteoarthritis, Hip|Osteoarthritis, Knee; height; Osteoarthritis, Knee; Body Weight|Osteoarthritis, Knee; Bone Mineral Density; osteoarthritis	Homozygous mutations in this gene can cause joint patterning defects leading to complete or partial fusions between specific skeletal elements and alterations in the patterns of repeating structures in the digits, wrists and ankles.	Molecules associated with elastic fibres	GO:0002062;chondrocyte differentiation;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007184;SMAD protein import into nucleus;IDA|GO:0007267;cell-cell signaling;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IBA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030513;positive regulation of BMP signaling pathway;IDA|GO:0032331;negative regulation of chondrocyte differentiation;IDA|GO:0032332;positive regulation of chondrocyte differentiation;IDA|GO:0035136;forelimb morphogenesis;IEA|GO:0035137;hindlimb morphogenesis;IEA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0043408;regulation of MAPK cascade;IBA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043932;ossification involved in bone remodeling;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0048468;cell development;IBA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0051216;cartilage development;IEA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060591;chondroblast differentiation;IDA|GO:2001054;negative regulation of mesenchymal cell apoptotic process;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0005102;receptor binding;IEA|GO:0005125;cytokine activity;IEA|GO:0005160;transforming growth factor beta receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;TAS|GO:0036122;BMP binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GDF5	https://www.uniprot.org/uniprot/P43026	https://hpo.jax.org/app/browse/search?q=GDF5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601146	http://www.informatics.jax.org/searchtool/Search.do?query=GDF5&submit=Quick%0D%5887ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GDF5	rs224331	0.383986	0.3691	0.3701	1	0	0	exonic	exonic	exonic	GDF5	GDF5,GDF5OS	ENSG00000125965,ENSG00000204183	nonsynonymous SNV	nonsynonymous SNV	unknown	GDF5:NM_000557:exon2:c.T826G:p.S276A,	GDF5:uc002xck.1:exon2:c.T826G:p.S276A,GDF5:uc010gfc.1:exon2:c.T826G:p.S276A,	UNKNOWN	Het;A>C	1060;38|42	Het;A>C	599;38|28	Hom;A>C	1705;0|59
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	34090519	34090519	G	A	snp	nonsynonymous SNV	G2426A	R809Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	CEP250	Cep250	ENSG00000126001	centrosomal protein 250	chr20:34042985-34099804	This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]	Height; Chronic renal failure|Kidney Failure, Chronic; breast cancer; height; Body Height	 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IDA|GO:0007049;cell cycle;IEA|GO:0008104;protein localization;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0030997;regulation of centriole-centriole cohesion;IDA|GO:0033365;protein localization to organelle;IMP|GO:0097711;ciliary basal body docking;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1905515;non-motile cilium assembly;IMP	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;NAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IMP|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP250	https://www.uniprot.org/uniprot/Q9BV73	https://hpo.jax.org/app/browse/search?q=CEP250&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609689	http://www.informatics.jax.org/searchtool/Search.do?query=CEP250&submit=Quick%0D%5899ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP250	rs3748433	0.138179	0.1127	0.1115	0.08	1	13	exonic	exonic	exonic	CEP250	CEP250	ENSG00000126001	nonsynonymous SNV	nonsynonymous SNV	unknown	CEP250:NM_007186:exon30:c.G4322A:p.R1441Q,	CEP250:uc010zve.2:exon28:c.G2426A:p.R809Q,CEP250:uc021wco.1:exon30:c.G4322A:p.R1441Q,	UNKNOWN	Het;G>A	1870;93|80	Het;G>A	1787;55|77	Hom;G>A	3381;3|124
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	34116282	34116282	T	C	snp	nonsynonymous SNV	A580G	K194E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	C20orf173	6430550D23Rik	ENSG00000125975	chromosome 20 open reading frame 173	chr20:34111014-34117481			 		GO:0009311;oligosaccharide metabolic process;IBA|GO:0018279;protein N-linked glycosylation via asparagine;IBA|GO:0097503;sialylation;IEA		GO:0047288;monosialoganglioside sialyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/C20orf173	https://www.uniprot.org/uniprot/Q96LM9			http://www.informatics.jax.org/searchtool/Search.do?query=C20orf173&submit=Quick%0D%5893ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C20orf173	rs7261862	0.227636	0.2052	0.2366	0.08	1	12	exonic	exonic	exonic	C20orf173	C20orf173	ENSG00000125975	nonsynonymous SNV	nonsynonymous SNV	unknown	C20orf173:NM_001145350:exon4:c.A580G:p.K194E,	C20orf173:uc010zvf.1:exon4:c.A580G:p.K194E,C20orf173:uc002xcp.2:exon3:c.A421G:p.K141E,	UNKNOWN	Het;T>C	1571;77|69	Het;T>C	1459;65|64	Hom;T>C	3903;2|149
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	34147998	34147998	A	G	snp	nonsynonymous SNV	T307C	W103R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	FER1L4																		rs224424	0.39357	0	0.3910	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	FER1L4	FER1L4	ENSG00000088340	Na	nonsynonymous SNV	Na	Na	FER1L4:uc002xcx.3:exon4:c.T307C:p.W103R,	Na	Het;A>G	2504;122|119	Het;A>G	2210;123|106	Hom;A>G	5167;4|199
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	34152782	34152782	C	T	snp	nonsynonymous SNV	G1993A	V665I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FER1L4																		rs2277862	0.188898	0	0.2283	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	FER1L4	FER1L4	ENSG00000088340	Na	nonsynonymous SNV	Na	Na	FER1L4:uc010gfg.1:exon16:c.G1993A:p.V665I,	Na	Het;C>T	1315;46|53	Het;C>T	847;47|36	Hom;C>T	2120;0|78
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	34240740	34240740	A	AGGGCCG	indel	nonframeshift substitution	2505_2505delinsCGGCCCT	 	 	 	RBM12	Rbm12	ENSG00000244462	RNA binding motif protein 12	chr20:34236847-34252878	This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. Alternative splicing in the 5' UTR results in four transcript variants. All variants encode the same protein. [provided by RefSeq, Nov 2010]		Mice homozygous for an ENU mutation exhibit open neural tube and embryonic growth retardation.			GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RBM12			https://www.ncbi.nlm.nih.gov/omim/?term=607179	http://www.informatics.jax.org/searchtool/Search.do?query=RBM12&submit=Quick%0D%19847ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM12	rs201181145	0	0.0568	0.0560	1	0	0	exonic	exonic	exonic	RBM12	RBM12	ENSG00000244462	nonframeshift substitution	nonframeshift substitution	unknown	RBM12:NM_001198838:exon3:c.2505_2505delinsCGGCCCT,RBM12:NM_001198840:exon2:c.2505_2505delinsCGGCCCT,RBM12:NM_006047:exon3:c.2505_2505delinsCGGCCCT,RBM12:NM_152838:exon3:c.2505_2505delinsCGGCCCT,	RBM12:uc021wcr.1:exon1:c.2505_2505delinsCGGCCCT,RBM12:uc002xdq.3:exon3:c.2505_2505delinsCGGCCCT,RBM12:uc021wcq.1:exon3:c.2505_2505delinsCGGCCCT,RBM12:uc002xds.3:exon2:c.2505_2505delinsCGGCCCT,RBM12:uc002xdr.3:exon3:c.2505_2505delinsCGGCCCT,	UNKNOWN	Het;+GGGCCG	2734;86|70	Het;+GGGCCG	2184;62|58	Hom;+GGGCCG	4163;0|89
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	34596371	34596371	C	T	snp	nonsynonymous SNV	C1123T	P375S	hydrophobic,neutral	polar,hydrophilic,neutral	CNBD2	Cnbd2	ENSG00000149646	cyclic nucleotide binding domain containing 2	chr20:34556512-34618622			Mice homozygous for a knock-out allele exhibit reduced male fertility associated with impaired spermiogenesis and development of flagellum bending.		GO:0007283;spermatogenesis;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA	GO:0000166;nucleotide binding;IEA|GO:0030552;cAMP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CNBD2	https://www.uniprot.org/uniprot/Q96M20			http://www.informatics.jax.org/searchtool/Search.do?query=CNBD2&submit=Quick%0D%9268ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNBD2	rs6060750	0.309904	0.2364	0.2429	0.38	5	13	exonic	exonic	exonic	CNBD2	CNBD2	ENSG00000149646	nonsynonymous SNV	nonsynonymous SNV	unknown	CNBD2:NM_001207076:exon9:c.C1123T:p.P375S,CNBD2:NM_080834:exon9:c.C1123T:p.P375S,	CNBD2:uc002xer.1:exon9:c.C1123T:p.P375S,CNBD2:uc002xes.1:exon9:c.C1123T:p.P375S,	UNKNOWN	Het;C>T	819;29|37	Het;C>T	802;51|40	Hom;C>T	1638;2|64
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	43378770	43378770	A	G	snp	nonsynonymous SNV	A284G	E95G	polar,hydrophilic,charged(-)	aliphatic,neutral	KCNK15	Kcnk15	ENSG00000124249	potassium two pore domain channel subfamily K member 15	chr20:43374421-43379675	This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]		 	Phase 4 - resting membrane potential	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005267;potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNK15	https://www.uniprot.org/uniprot/Q9H427		https://www.ncbi.nlm.nih.gov/omim/?term=607368	http://www.informatics.jax.org/searchtool/Search.do?query=KCNK15&submit=Quick%0D%5633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK15	rs1111032	0.606829	0.5797	0.5397	0.30	3	10	exonic	exonic	exonic	KCNK15	KCNK15	ENSG00000124249	nonsynonymous SNV	nonsynonymous SNV	unknown	KCNK15:NM_022358:exon2:c.A284G:p.E95G,	KCNK15:uc002xmr.3:exon2:c.A284G:p.E95G,	UNKNOWN	Het;A>G	940;72|41	Het;A>G	672;56|33	Hom;A>G	3385;0|125
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	43379264	43379264	A	C	snp	nonsynonymous SNV	A778C	T260P	polar,hydrophilic,neutral	hydrophobic,neutral	KCNK15	Kcnk15	ENSG00000124249	potassium two pore domain channel subfamily K member 15	chr20:43374421-43379675	This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]		 	Phase 4 - resting membrane potential	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005267;potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNK15	https://www.uniprot.org/uniprot/Q9H427		https://www.ncbi.nlm.nih.gov/omim/?term=607368	http://www.informatics.jax.org/searchtool/Search.do?query=KCNK15&submit=Quick%0D%5633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK15	rs6073538	0.607228	0.5371	0.5347	0.10	1	10	exonic	exonic	exonic	KCNK15	KCNK15	ENSG00000124249	nonsynonymous SNV	nonsynonymous SNV	unknown	KCNK15:NM_022358:exon2:c.A778C:p.T260P,	KCNK15:uc002xmr.3:exon2:c.A778C:p.T260P,	UNKNOWN	Het;A>C	900;39|25	Het;A>C	1234;24|32	Hom;A>C	2369;0|54
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	43379268	43379268	C	A	snp	nonsynonymous SNV	C782A	P261H	hydrophobic,neutral	aromatic,polar,hydrophilic,charged(+)	KCNK15	Kcnk15	ENSG00000124249	potassium two pore domain channel subfamily K member 15	chr20:43374421-43379675	This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]		 	Phase 4 - resting membrane potential	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005267;potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNK15	https://www.uniprot.org/uniprot/Q9H427		https://www.ncbi.nlm.nih.gov/omim/?term=607368	http://www.informatics.jax.org/searchtool/Search.do?query=KCNK15&submit=Quick%0D%5633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK15	rs13037900	0.0990415	0	0.1002	0.17	2	12	exonic	exonic	exonic	KCNK15	KCNK15	ENSG00000124249	nonsynonymous SNV	nonsynonymous SNV	unknown	KCNK15:NM_022358:exon2:c.C782A:p.P261H,	KCNK15:uc002xmr.3:exon2:c.C782A:p.P261H,	UNKNOWN	Het;C>A	912;37|25	Het;C>A	1234;24|32	Hom;C>A	2356;0|54
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	43379454	43379454	T	C	snp	nonsynonymous SNV	T968C	L323P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	KCNK15	Kcnk15	ENSG00000124249	potassium two pore domain channel subfamily K member 15	chr20:43374421-43379675	This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]		 	Phase 4 - resting membrane potential	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005267;potassium channel activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNK15	https://www.uniprot.org/uniprot/Q9H427		https://www.ncbi.nlm.nih.gov/omim/?term=607368	http://www.informatics.jax.org/searchtool/Search.do?query=KCNK15&submit=Quick%0D%5633ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK15	rs13042905	0.598243	0.6000	0.5789	0.10	1	10	exonic	exonic	exonic	KCNK15	KCNK15	ENSG00000124249	nonsynonymous SNV	nonsynonymous SNV	unknown	KCNK15:NM_022358:exon2:c.T968C:p.L323P,	KCNK15:uc002xmr.3:exon2:c.T968C:p.L323P,	UNKNOWN	Het;T>C	848;41|38	Het;T>C	754;53|33	Hom;T>C	1948;0|73
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	43547677	43547677	T	G	snp	nonsynonymous SNV	T634G	S212A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	PABPC1L	Pabpc1l	ENSG00000101104	poly(A) binding protein cytoplasmic 1 like	chr20:43538703-43587676			Mice homozygous for a knock-out allele exhibit impaired oocyte maturation and female infertility.		GO:0001556;oocyte maturation;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006378;mRNA polyadenylation;IEA|GO:0048096;chromatin-mediated maintenance of transcription;IEA|GO:0051647;nucleus localization;IEA	GO:0070062;extracellular exosome;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PABPC1L	https://www.uniprot.org/uniprot/Q4VXU2			http://www.informatics.jax.org/searchtool/Search.do?query=PABPC1L&submit=Quick%0D%2651ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPC1L	rs2075960	0.23143	0.2218	0.2465	0.46	6	13	exonic	exonic	exonic	PABPC1L	PABPC1L	ENSG00000101104	nonsynonymous SNV	nonsynonymous SNV	unknown	PABPC1L:NM_001124756:exon4:c.T634G:p.S212A,	PABPC1L:uc010ggv.1:exon4:c.T634G:p.S212A,	UNKNOWN	Het;T>G	3100;127|132	Het;T>G	2422;126|115	Hom;T>G	5479;2|209
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	44005936	44005936	C	T	snp	nonsynonymous SNV	G170A	R57H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	TP53TG5	Trp53tg5	ENSG00000124251	TP53 target 5	chr20:44002526-44036529			 		GO:0030308;negative regulation of cell growth;NAS|GO:0035556;intracellular signal transduction;NAS	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/TP53TG5	https://www.uniprot.org/uniprot/Q9Y2B4		https://www.ncbi.nlm.nih.gov/omim/?term=617316	http://www.informatics.jax.org/searchtool/Search.do?query=TP53TG5&submit=Quick%0D%5634ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TP53TG5	rs2231616	0.201278	0.1193	0.1801	0.08	1	13	exonic	exonic	exonic	TP53TG5	TP53TG5	ENSG00000124251	nonsynonymous SNV	nonsynonymous SNV	unknown	TP53TG5:NM_014477:exon3:c.G170A:p.R57H,	TP53TG5:uc002xny.3:exon3:c.G170A:p.R57H,	UNKNOWN	Het;C>T	718;67|40	Het;C>T	881;50|44	Hom;C>T	2114;2|83
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	44184498	44184498	A	G	snp	nonsynonymous SNV	T287C	M96T	hydrophobic,neutral	polar,hydrophilic,neutral	WFDC8	Wfdc8	ENSG00000158901	WAP four-disulfide core domain 8	chr20:44179792-44207965	This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008]		 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA	GO:0005576;extracellular region;IEA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WFDC8				http://www.informatics.jax.org/searchtool/Search.do?query=WFDC8&submit=Quick%0D%10270ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC8	rs2272955	0.103435	0.0940	0.0736	0.15	2	13	exonic	exonic	exonic	WFDC8	WFDC8	ENSG00000158901	nonsynonymous SNV	nonsynonymous SNV	unknown	WFDC8:NM_181510:exon4:c.T287C:p.M96T,WFDC8:NM_130896:exon4:c.T287C:p.M96T,	WFDC8:uc002xox.3:exon4:c.T287C:p.M96T,WFDC8:uc002xow.3:exon4:c.T287C:p.M96T,	UNKNOWN	Het;A>G	800;44|36	Het;A>G	660;42|31	Hom;A>G	1322;0|50
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	44238741	44238741	T	G	snp	nonsynonymous SNV	A80C	N27T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	WFDC9	Wfdc9	ENSG00000180205	WAP four-disulfide core domain 9	chr20:44236578-44259907	The WAP-type four-disulfide core (WFDC) domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many members of the WFDC domain family. This gene encodes a protein which contains a WFDC domain, and is thus a member of the WFDC domain family. This gene and several other gene family members are clustered at 20q13.12. [provided by RefSeq, Jul 2008]	Cholesterol, LDL; Mental Competency	 			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/WFDC9				http://www.informatics.jax.org/searchtool/Search.do?query=WFDC9&submit=Quick%0D%14444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC9	rs2245898	0.393371	0.3505	0.3539	0.08	1	12	exonic	exonic	exonic	WFDC9	WFDC9	ENSG00000180205	nonsynonymous SNV	nonsynonymous SNV	unknown	WFDC9:NM_147198:exon3:c.A80C:p.N27T,	WFDC9:uc002xoy.3:exon3:c.A80C:p.N27T,	UNKNOWN	Het;T>G	946;44|44	Het;T>G	943;44|41	Hom;T>G	2219;0|83
20_50.701_78.701	Chr20:25016495-51804476	1.1	20	45169957	45169957	C	T	snp	nonsynonymous SNV	G1657A	V553M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	OCSTAMP	Ocstamp	ENSG00000149635	osteoclast stimulatory transmembrane protein	chr20:45169585-45179213			Mice homozygous for a knock-out allele exhibit defective osteoclast fusion but normal skeletal paramaters.		GO:0030154;cell differentiation;IEA|GO:0034241;positive regulation of macrophage fusion;IEA|GO:0045672;positive regulation of osteoclast differentiation;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071391;cellular response to estrogen stimulus;IEA|GO:0072674;multinuclear osteoclast differentiation;IEA|GO:0090290;positive regulation of osteoclast proliferation;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/OCSTAMP	https://www.uniprot.org/uniprot/Q9BR26			http://www.informatics.jax.org/searchtool/Search.do?query=OCSTAMP&submit=Quick%0D%9265ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OCSTAMP	rs41283036	0.00479233	0.0039	0.0092	0.00	0	12	exonic	exonic	exonic	OCSTAMP	OCSTAMP	ENSG00000149635	nonsynonymous SNV	nonsynonymous SNV	unknown	OCSTAMP:NM_080721:exon3:c.G1657A:p.V553M,	OCSTAMP:uc010zxu.2:exon3:c.G1657A:p.V553M,	UNKNOWN	Het;C>T	816;29|34	Het;C>T	607;41|30	Hom;C>T	1696;0|64
N	N	-	20	55072472	55072472	A	G	snp	splicing	192+1T>C	 	 	 	GCNT7	Gcnt7	ENSG00000124091	glucosaminyl (N-acetyl) transferase family member 7	chr20:55066548-55100981			 	O-linked glycosylation of mucins	GO:0006486;protein glycosylation;IEA	GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008375;acetylglucosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GCNT7	https://www.uniprot.org/uniprot/Q6ZNI0			http://www.informatics.jax.org/searchtool/Search.do?query=GCNT7&submit=Quick%0D%5584ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GCNT7	rs6024911	0.840056	0.7762	0.8031	0.50	2	4	exonic	splicing	UTR5	GCNT7	GCNT7(uc010zzg.1:exon6:c.192+1T>C)	ENSG00000124091(ENST00000243913:c.-174T>C)	unknown	Na	Na	UNKNOWN	Na	Na	Het;A>G	1791;78|75	Het;A>G	1810;48|76	Hom;A>G	4834;0|168
N	N	-	20	55088404	55088404	A	G	snp	nonsynonymous SNV	A511G	M171V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	RTFDC1	Rtfdc1	ENSG00000022277	replication termination factor 2 domain containing 1	chr20:55043647-55093943			 		GO:0008150;biological_process;ND|GO:0071171;site-specific DNA replication termination at RTS1 barrier;IBA|GO:1902979;mitotic DNA replication termination;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IBA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/RTFDC1	https://www.uniprot.org/uniprot/Q9BY42			http://www.informatics.jax.org/searchtool/Search.do?query=RTFDC1&submit=Quick%0D%671ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RTFDC1	rs1059768	0.865216	0.8094	0.8310	0.15	2	13	exonic	exonic	exonic	RTFDC1	RTFDC1	ENSG00000022277	nonsynonymous SNV	nonsynonymous SNV	unknown	RTFDC1:NM_001283035:exon7:c.A601G:p.M201V,RTFDC1:NM_016407:exon6:c.A511G:p.M171V,RTFDC1:NM_001283037:exon6:c.A511G:p.M171V,RTFDC1:NM_001283036:exon6:c.A511G:p.M171V,	RTFDC1:uc002xxt.2:exon6:c.A511G:p.M171V,RTFDC1:uc002xxu.2:exon6:c.A511G:p.M171V,RTFDC1:uc010zzf.1:exon7:c.A601G:p.M201V,	UNKNOWN	Het;A>G	1074;70|54	Het;A>G	846;76|46	Hom;A>G	3192;0|118
N	N	-	20	57599402	57599402	G	A	snp	nonsynonymous SNV	G920A	R307H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	TUBB1	Tubb1	ENSG00000101162	tubulin beta 1 class VI	chr20:57594309-57601709	This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]	Acute Coronary Syndrome|Myocardial Infarction; Hemorrhagic Disorders; cardiovascular disease	Homozygotes have thrombocytopenia resulting from a defect in generating proplatelets.  The platelets that are produced have structural and functional defects.	Kinesins	GO:0007017;microtubule-based process;IEA|GO:0051225;spindle assembly;IEA	GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TUBB1	https://www.uniprot.org/uniprot/Q9H4B7	https://hpo.jax.org/app/browse/search?q=TUBB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612901	http://www.informatics.jax.org/searchtool/Search.do?query=TUBB1&submit=Quick%0D%2665ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBB1	rs6070697	0.14397	0.1560	0.1738	0.15	2	13	exonic	exonic	exonic	TUBB1	TUBB1	ENSG00000101162	nonsynonymous SNV	nonsynonymous SNV	unknown	TUBB1:NM_030773:exon4:c.G920A:p.R307H,	TUBB1:uc002yak.3:exon4:c.G920A:p.R307H,	UNKNOWN	Het;G>A	2855;132|128	Het;G>A	2360;104|104	Hom;G>A	5659;1|204
N	N	-	20	61491494	61491494	T	C	snp	nonsynonymous SNV	A814G	N272D	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	TCFL5	Tcfl5	ENSG00000101190	transcription factor like 5	chr20:61472467-61493115	The cell-type and stage-specific expression of TCFL5 indicates that this protein may function in a crucial role in spermatogenesis as a transcription factor by regulating cell proliferation or differentiation of cells through binding to a specific DNA sequence like other bHLH molecules.		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP	GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;IDA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TCFL5	https://www.uniprot.org/uniprot/Q9UL49		https://www.ncbi.nlm.nih.gov/omim/?term=604745	http://www.informatics.jax.org/searchtool/Search.do?query=TCFL5&submit=Quick%0D%97ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCFL5	rs17854409	0.133986	0.1231	0.0931	0.15	2	13	exonic	exonic	exonic	TCFL5	TCFL5	ENSG00000101190	nonsynonymous SNV	nonsynonymous SNV	unknown	TCFL5:NM_006602:exon2:c.A814G:p.N272D,TCFL5:NM_001301726:exon2:c.A814G:p.N272D,	TCFL5:uc002ydp.3:exon2:c.A814G:p.N272D,TCFL5:uc002ydq.3:exon2:c.A814G:p.N272D,TCFL5:uc002ydo.3:exon1:c.A133G:p.N45D,	UNKNOWN	Het;T>C	1556;58|62	Het;T>C	998;44|38	Hom;T>C	2566;0|92
N	N	-	21	31802768	31802768	G	A	snp	nonsynonymous SNV	G175A	A59T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	KRTAP13-4		ENSG00000186971	keratin associated protein 13-4	chr21:31802572-31803216				Keratinization	GO:0031424;keratinization;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KRTAP13-4				http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP13-4&submit=Quick%0D%15749ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP13-4	rs2226548	0.551118	0.6034	0.5697	0.08	1	13	exonic	exonic	exonic	KRTAP13-4	KRTAP13-4	ENSG00000186971	nonsynonymous SNV	nonsynonymous SNV	unknown	KRTAP13-4:NM_181600:exon1:c.G175A:p.A59T,	KRTAP13-4:uc011acw.2:exon1:c.G175A:p.A59T,	UNKNOWN	Het;G>A	2146;121|100	Het;G>A	1471;74|64	Hom;G>A	4831;0|174
N	N	-	21	31812772	31812772	C	A	snp	nonsynonymous SNV	C127A	L43M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	KRTAP15-1	Krtap15	ENSG00000186970	keratin associated protein 15-1	chr21:31812597-31813070			 	Keratinization	GO:0031424;keratinization;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KRTAP15-1				http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP15-1&submit=Quick%0D%15748ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP15-1	rs2832873	0.554113	0.6060	0.5698	0.38	5	13	exonic	exonic	exonic	KRTAP15-1	KRTAP15-1	ENSG00000186970	nonsynonymous SNV	nonsynonymous SNV	unknown	KRTAP15-1:NM_181623:exon1:c.C127A:p.L43M,	KRTAP15-1:uc002yod.3:exon1:c.C127A:p.L43M,	UNKNOWN	Het;C>A	1095;64|50	Het;C>A	1449;59|66	Hom;C>A	4079;0|148
N	N	-	21	31869286	31869286	T	C	snp	nonsynonymous SNV	A143G	Y48C	aromatic,polar,hydrophobic	polar,hydrophobic,neutral	KRTAP19-4		ENSG00000186967	keratin associated protein 19-4	chr21:31869142-31869451				Keratinization	GO:0031424;keratinization;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KRTAP19-4				http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP19-4&submit=Quick%0D%15747ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP19-4	rs2298437	0.614217	0.6357	0.5833	0.09	1	11	exonic	exonic	exonic	KRTAP19-4	KRTAP19-4	ENSG00000186967	nonsynonymous SNV	nonsynonymous SNV	unknown	KRTAP19-4:NM_181610:exon1:c.A143G:p.Y48C,	KRTAP19-4:uc011acz.2:exon1:c.A143G:p.Y48C,	UNKNOWN	Het;T>C	1143;56|42	Het;T>C	1460;47|59	Hom;T>C	3300;0|114
N	N	-	21	31913981	31913982	AG	A	indel	frameshift substitution	171_172T	 	 	 	KRTAP19-6		ENSG00000186925		chr21:31913854-31914183				Keratinization	GO:0031424;keratinization;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KRTAP19-6				http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP19-6&submit=Quick%0D%15741ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP19-6	rs5843453	0.787141	0	0.7273	1	0	0	exonic;splicing	exonic	exonic	KRTAP19-6;KRTAP19-6	KRTAP19-6	ENSG00000186925	frameshift substitution	frameshift substitution	unknown	KRTAP19-6:NM_181612:exon1:c.171_172T,	KRTAP19-6:uc002yok.1:exon1:c.171_172T,	UNKNOWN	Het;-G	1339;43|37	Het;-G	629;29|18	Hom;-G	2679;0|62
N	N	-	21	31964916	31964916	A	C	snp	nonsynonymous SNV	A152C	Y51S	aromatic,polar,hydrophobic	polar,hydrophilic,neutral	KRTAP6-3		ENSG00000212938	keratin associated protein 6-3	chr21:31964759-31965394				Keratinization	GO:0031424;keratinization;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA		http://www.genecards.org/index.php?path=/Search/keyword/KRTAP6-3				http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP6-3&submit=Quick%0D%18072ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP6-3	rs9305426	0.567093	0.6089	0.5978	0.36	4	11	exonic	exonic	exonic	KRTAP6-3	KRTAP6-3	ENSG00000212938	nonsynonymous SNV	nonsynonymous SNV	unknown	KRTAP6-3:NM_181605:exon1:c.A152C:p.Y51S,	KRTAP6-3:uc002yom.3:exon1:c.A152C:p.Y51S,	UNKNOWN	Het;A>C	2488;121|105	Het;A>C	2466;87|102	Hom;A>C	5303;1|188
N	N	-	21	32253513	32253513	A	T	snp	nonsynonymous SNV	T331A	C111S	polar,hydrophobic,neutral	polar,hydrophilic,neutral	KRTAP11-1	Krtap11-1	ENSG00000182591	keratin associated protein 11-1	chr21:32252966-32253874		Carotid Artery Diseases	 	Keratinization	GO:0031424;keratinization;TAS	GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA	GO:0005198;structural molecule activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KRTAP11-1			https://www.ncbi.nlm.nih.gov/omim/?term=600064	http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP11-1&submit=Quick%0D%14821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP11-1	rs9636845	0.17492	0.0675	0.1356	0.69	9	13	exonic	exonic	exonic	KRTAP11-1	KRTAP11-1	ENSG00000182591	nonsynonymous SNV	nonsynonymous SNV	unknown	KRTAP11-1:NM_175858:exon1:c.T331A:p.C111S,	KRTAP11-1:uc002yov.3:exon1:c.T331A:p.C111S,	UNKNOWN	Het;A>T	3946;134|165	Het;A>T	3471;144|149	Hom;A>T	8874;1|319
N	N	-	21	37518706	37518706	G	A	snp	nonsynonymous SNV	G730A	V244M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	CBR3	Cbr3	ENSG00000159231	carbonyl reductase 3	chr21:37507210-37518864	Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols.  The enzyme is classified as a monomeric NADPH-dependent oxidoreductase.  CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008]	breast cancer ; Breast Neoplasms; Heart Failure|Neoplasms; bladder cancer; chronic obstructive pulmonary disease; lung cancer ; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; lung cancer	 	Phase I - Functionalization of compounds	GO:0006805;xenobiotic metabolic process;TAS|GO:0042376;phylloquinone catabolic process;IEA|GO:0050890;cognition;IMP|GO:0055114;oxidation-reduction process;IEA	GO:0005615;extracellular space;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000253;3-keto sterol reductase activity;IEA|GO:0004090;carbonyl reductase (NADPH) activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0070402;NADPH binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CBR3			https://www.ncbi.nlm.nih.gov/omim/?term=603608	http://www.informatics.jax.org/searchtool/Search.do?query=CBR3&submit=Quick%0D%10309ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CBR3	rs1056892	0.427117	0.3987	0.3742	0.46	6	13	exonic	exonic	exonic	CBR3	CBR3	ENSG00000159231	nonsynonymous SNV	nonsynonymous SNV	unknown	CBR3:NM_001236:exon3:c.G730A:p.V244M,	CBR3:uc002yve.3:exon3:c.G730A:p.V244M,	UNKNOWN	Het;G>A	2980;125|134	Het;G>A	2235;108|107	Hom;G>A	6482;0|245
N	N	-	21	38081577	38081577	C	G	snp	nonsynonymous SNV	C285G	S95R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	SIM2	Sim2	ENSG00000159263	single-minded family bHLH transcription factor 2	chr21:38071433-38122218	This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]	Scoliosis; Iron	Homozygous mutation of this gene results in postnatal lethality, cleft palate, malformed pterygoid processes, and aerophagia.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0009880;embryonic pattern specification;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SIM2			https://www.ncbi.nlm.nih.gov/omim/?term=600892	http://www.informatics.jax.org/searchtool/Search.do?query=SIM2&submit=Quick%0D%10316ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SIM2	rs2070648	0.748003	0.7639	0.7473	1	0	0	intronic	exonic	intronic	SIM2	SIM2	ENSG00000159263	Na	nonsynonymous SNV	Na	Na	SIM2:uc002yvp.3:exon2:c.C285G:p.S95R,	Na	Het;C>G	700;58|35	Het;C>G	1100;57|51	Hom;C>G	2131;0|78
N	N	-	21	41032740	41032740	T	C	snp	nonsynonymous SNV	T254C	M85T	hydrophobic,neutral	polar,hydrophilic,neutral	B3GALT5	B3galt5	ENSG00000183778	beta-1,3-galactosyltransferase 5	chr21:40928369-41045064	This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants have been observed for this gene, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2013]	Bipolar Disorder	Homozygous mice for a targeted mutation appear normal.		GO:0006486;protein glycosylation;TAS	GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008378;galactosyltransferase activity;IEA|GO:0008499;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/B3GALT5			https://www.ncbi.nlm.nih.gov/omim/?term=604066	http://www.informatics.jax.org/searchtool/Search.do?query=B3GALT5&submit=Quick%0D%15073ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GALT5	rs3746887	0.653355	0.6851	0.7577	0.08	1	13	exonic	exonic	exonic	B3GALT5	B3GALT5	ENSG00000183778	nonsynonymous SNV	nonsynonymous SNV	unknown	B3GALT5:NM_033170:exon3:c.T254C:p.M85T,B3GALT5:NM_006057:exon3:c.T254C:p.M85T,B3GALT5:NM_033172:exon3:c.T266C:p.M89T,B3GALT5:NM_001278650:exon3:c.T254C:p.M85T,B3GALT5:NM_033171:exon4:c.T254C:p.M85T,	B3GALT5:uc002yyk.1:exon3:c.T254C:p.M85T,B3GALT5:uc021wjj.1:exon1:c.T254C:p.M85T,B3GALT5:uc002yyj.1:exon3:c.T254C:p.M85T,B3GALT5:uc002yyi.1:exon4:c.T254C:p.M85T,B3GALT5:uc002yyb.1:exon5:c.T254C:p.M85T,B3GALT5:uc002yye.2:exon3:c.T254C:p.M85T,B3GALT5:uc002yyl.1:exon3:c.T254C:p.M85T,	UNKNOWN	Het;T>C	1794;91|79	Het;T>C	1223;88|57	Hom;T>C	3753;2|140
N	N	-	21	41165462	41165462	C	A	snp	nonsynonymous SNV	C1050A	D350E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	IGSF5	Igsf5	ENSG00000183067	immunoglobulin superfamily member 5	chr21:41117334-41174023		Parkinson Disease; Stroke; Lipoproteins, LDL; Tobacco Use Disorder; Coronary Disease	Homozygous mutation of this gene results in no obvious abnormalities.			GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IGSF5			https://www.ncbi.nlm.nih.gov/omim/?term=610638	http://www.informatics.jax.org/searchtool/Search.do?query=IGSF5&submit=Quick%0D%14915ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF5	rs2837225	0.450479	0.3613	0.3645	0.08	1	13	exonic	exonic	exonic	IGSF5	IGSF5	ENSG00000183067	nonsynonymous SNV	nonsynonymous SNV	unknown	IGSF5:NM_001080444:exon8:c.C1050A:p.D350E,	IGSF5:uc002yyo.3:exon8:c.C1050A:p.D350E,	UNKNOWN	Het;C>A	1015;39|45	Het;C>A	404;45|22	Hom;C>A	1993;0|74
N	N	-	21	45107562	45107562	T	C	snp	nonsynonymous SNV	T1307C	L436P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	RRP1B	Rrp1b	ENSG00000160208	ribosomal RNA processing 1B	chr21:45079429-45115958		Tobacco Use Disorder; breast cancer; breast cancer 	 		GO:0006364;rRNA processing;IBA|GO:0010923;negative regulation of phosphatase activity;IDA	GO:0000791;euchromatin;IEA|GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0030687;preribosome, large subunit precursor;IBA|GO:0030688;preribosome, small subunit precursor;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP1B			https://www.ncbi.nlm.nih.gov/omim/?term=610654	http://www.informatics.jax.org/searchtool/Search.do?query=RRP1B&submit=Quick%0D%10425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP1B	rs9306160	0.799521	0.7039	0.6952	0.08	1	12	exonic	exonic	exonic	RRP1B	RRP1B	ENSG00000160208	nonsynonymous SNV	nonsynonymous SNV	unknown	RRP1B:NM_015056:exon13:c.T1307C:p.L436P,	RRP1B:uc002zdk.3:exon13:c.T1307C:p.L436P,	UNKNOWN	Het;T>C	900;47|39	Het;T>C	738;26|34	Hom;T>C	1432;0|48
N	N	-	21	46876580	46876580	C	T	snp	nonsynonymous SNV	C1136T	T379M	polar,hydrophilic,neutral	hydrophobic,neutral	COL18A1	Col18a1	ENSG00000182871	collagen type XVIII alpha 1 chain	chr21:46825052-46933634	This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	lung cancer ; lung cancer; multiple myeloma; Diabetes Mellitus, Type 2|Obesity; leukemia; Socioeconomic Factors; chronic obstructive pulmonary disease; prostate cancer; gastric adenocarcinoma; bladder cancer; breast cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Myopia; endometriosis; atopy; Hepatopulmonary Syndrome|Liver Cirrhosis	Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli.	Collagen chain trimerization	GO:0001525;angiogenesis;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0030574;collagen catabolic process;TAS|GO:0042493;response to drug;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:2000353;positive regulation of endothelial cell apoptotic process;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL18A1		https://hpo.jax.org/app/browse/search?q=COL18A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120328	http://www.informatics.jax.org/searchtool/Search.do?query=COL18A1&submit=Quick%0D%14870ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL18A1	rs8133886	0.426518	0	0.3559	0.58	7	12	exonic	intronic	exonic	COL18A1	COL18A1	ENSG00000182871	nonsynonymous SNV	Na	unknown	COL18A1:NM_130444:exon1:c.C1136T:p.T379M,	Na	UNKNOWN	Het;C>T	1202;58|53	Het;C>T	1291;56|64	Hom;C>T	3354;0|126
N	N	-	21	47786524	47786524	A	G	snp	nonsynonymous SNV	A2635G	T879A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs2839227	0.316693	0.2597	0.2050	0.08	1	13	exonic	exonic	exonic	PCNT	PCNT	ENSG00000160299	nonsynonymous SNV	nonsynonymous SNV	unknown	PCNT:NM_006031:exon15:c.A2635G:p.T879A,	PCNT:uc002zji.4:exon15:c.A2635G:p.T879A,PCNT:uc002zjj.3:exon15:c.A2281G:p.T761A,	UNKNOWN	Het;A>G	1271;51|57	Het;A>G	1117;59|57	Hom;A>G	2708;0|99
N	N	-	21	47821588	47821588	A	G	snp	nonsynonymous SNV	A4915G	I1639V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PCNT	Pcnt	ENSG00000160299	pericentrin	chr21:47744036-47865682	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides	Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCNT		https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605925	http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT	rs6518291	0.334665	0.3136	0.2494	0.08	1	13	exonic	exonic	exonic	PCNT	PCNT	ENSG00000160299	nonsynonymous SNV	nonsynonymous SNV	unknown	PCNT:NM_006031:exon26:c.A4915G:p.I1639V,	PCNT:uc002zji.4:exon26:c.A4915G:p.I1639V,PCNT:uc002zjj.3:exon26:c.A4561G:p.I1521V,	UNKNOWN	Het;A>G	1653;109|80	Het;A>G	1657;65|70	Hom;A>G	4039;0|142
22_57.194_74.694	Chr22:45430165-51215481	0.519	22	50582575	50582575	A	G	snp	nonsynonymous SNV	A2408G	N803S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MOV10L1	Mov10l1	ENSG00000073146	Mov10 RISC complex RNA helicase like 1	chr22:50528308-50600119	This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]	Tobacco Use Disorder	Mice homozygous for a targeted allele lacking the helicase domain exhibit male infertility due to meiotic arrest, apoptosis, and derepression of retrotransposons in male germ cells.	PIWI-interacting RNA (piRNA) biogenesis	GO:0007141;male meiosis I;ISS|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEP|GO:0007283;spermatogenesis;IEP|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS|GO:0007141;male meiosis I;ISS|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEP|GO:0007283;spermatogenesis;IEP|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS	GO:0005622;intracellular;IC|GO:0005737;cytoplasm;IEA|GO:0043186;P granule;ISS|GO:0071546;pi-body;ISS	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;TAS|GO:0003723;RNA binding;TAS|GO:0004004;ATP-dependent RNA helicase activity;ISS|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MOV10L1	https://www.uniprot.org/uniprot/Q9BXT6		https://www.ncbi.nlm.nih.gov/omim/?term=605794	http://www.informatics.jax.org/searchtool/Search.do?query=MOV10L1&submit=Quick%0D%26ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MOV10L1	rs143335661	0	7.7e-05	7.414e-05	0.92	12	13	exonic	exonic	exonic	MOV10L1	MOV10L1	ENSG00000073146	nonsynonymous SNV	nonsynonymous SNV	unknown	MOV10L1:NM_018995:exon18:c.A2408G:p.N803S,MOV10L1:NM_001164104:exon18:c.A2408G:p.N803S,MOV10L1:NM_001164105:exon18:c.A2348G:p.N783S,	MOV10L1:uc003bjj.3:exon18:c.A2408G:p.N803S,MOV10L1:uc003bjk.4:exon18:c.A2408G:p.N803S,MOV10L1:uc011arp.2:exon18:c.A2348G:p.N783S,	UNKNOWN	Het;A>G	1297;64|60	Het;A>G	1279;67|58	Hom;A>G	2620;0|93
22_57.194_74.694	Chr22:45430165-51215481	0.519	22	50646936	50646936	G	C	snp	nonsynonymous SNV	G163C	A55P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	SELO	Selo																	rs5771102	0.701877	0.6697	0.6200	1	0	0	intronic	exonic	ncRNA_exonic	SELO	SELO	ENSG00000273137	Na	nonsynonymous SNV	Na	Na	SELO:uc010hap.3:exon2:c.G163C:p.A55P,	Na	Het;G>C	436;21|19	Het;G>C	730;17|33	Hom;G>C	1102;0|35
22_57.194_74.694	Chr22:45430165-51215481	0.519	22	50658424	50658424	T	C	snp	nonsynonymous SNV	A4105G	T1369A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	TUBGCP6	Tubgcp6	ENSG00000128159	tubulin gamma complex associated protein 6	chr22:50656118-50683421	The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]	HIV Infections|[X]Human immunodeficiency virus disease; Erythrocyte Count	 	Recruitment of NuMA to mitotic centrosomes	GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007020;microtubule nucleation;IDA|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA	GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0008274;gamma-tubulin ring complex;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008017;microtubule binding;IDA|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP6	https://www.uniprot.org/uniprot/Q96RT7	https://hpo.jax.org/app/browse/search?q=TUBGCP6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610053	http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP6&submit=Quick%0D%6102ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP6	rs11703226	0.427117	0.4577	0.4319	0.08	1	13	exonic	exonic	exonic	TUBGCP6	TUBGCP6	ENSG00000128159	nonsynonymous SNV	nonsynonymous SNV	unknown	TUBGCP6:NM_020461:exon17:c.A4129G:p.T1377A,	TUBGCP6:uc010har.1:exon17:c.A4105G:p.T1369A,TUBGCP6:uc003bka.1:exon2:c.A1390G:p.T464A,TUBGCP6:uc003bkb.1:exon17:c.A4129G:p.T1377A,	UNKNOWN	Het;T>C	904;65|44	Het;T>C	937;32|41	Hom;T>C	2088;3|82
22_57.194_74.694	Chr22:45430165-51215481	0.519	22	50722167	50722167	T	C	snp	nonsynonymous SNV	A2434G	T812A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	PLXNB2	Plxnb2	ENSG00000196576	plexin B2	chr22:50713408-50746056	Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008]		Homozygotes for a targeted mutation of this gene die perinatally of exencephaly or survive and seem normal despite severe abnormalities in cerebellar layering and foliation; the external granule cell layer is disorganized due to continued proliferation and migration of differentiated granule cells.		GO:0001843;neural tube closure;IEA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IBA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007405;neuroblast proliferation;IEA|GO:0007420;brain development;IEA|GO:0008360;regulation of cell shape;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:2001222;regulation of neuron migration;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLXNB2			https://www.ncbi.nlm.nih.gov/omim/?term=604293	http://www.informatics.jax.org/searchtool/Search.do?query=PLXNB2&submit=Quick%0D%16406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNB2	rs28470336	0.01877	0.0401	0.0396	0.23	3	13	exonic	exonic	exonic	PLXNB2	PLXNB2	ENSG00000196576	nonsynonymous SNV	nonsynonymous SNV	unknown	PLXNB2:NM_012401:exon15:c.A2434G:p.T812A,	PLXNB2:uc003bkv.4:exon15:c.A2434G:p.T812A,	UNKNOWN	Het;T>C	2598;140|119	Het;T>C	2788;115|124	Hom;T>C	5229;1|190
22_57.194_74.694	Chr22:45430165-51215481	0.519	22	50728062	50728062	T	C	snp	nonsynonymous SNV	A952G	K318E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	PLXNB2	Plxnb2	ENSG00000196576	plexin B2	chr22:50713408-50746056	Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008]		Homozygotes for a targeted mutation of this gene die perinatally of exencephaly or survive and seem normal despite severe abnormalities in cerebellar layering and foliation; the external granule cell layer is disorganized due to continued proliferation and migration of differentiated granule cells.		GO:0001843;neural tube closure;IEA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IBA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007405;neuroblast proliferation;IEA|GO:0007420;brain development;IEA|GO:0008360;regulation of cell shape;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:2001222;regulation of neuron migration;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLXNB2			https://www.ncbi.nlm.nih.gov/omim/?term=604293	http://www.informatics.jax.org/searchtool/Search.do?query=PLXNB2&submit=Quick%0D%16406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNB2	rs28379706	0.454073	0.4520	0.3817	0.08	1	13	exonic	exonic	exonic	PLXNB2	PLXNB2	ENSG00000196576	nonsynonymous SNV	nonsynonymous SNV	unknown	PLXNB2:NM_012401:exon3:c.A952G:p.K318E,	PLXNB2:uc003bkv.4:exon3:c.A952G:p.K318E,	UNKNOWN	Het;T>C	2079;107|95	Het;T>C	1723;81|81	Hom;T>C	3854;0|142
22_57.194_74.694	Chr22:45430165-51215481	0.519	22	50878196	50878196	G	A	snp	nonsynonymous SNV	G2195A	R732K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	PPP6R2	Ppp6r2	ENSG00000100239	protein phosphatase 6 regulatory subunit 2	chr22:50781733-50883514	Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]		 			GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PPP6R2	https://www.uniprot.org/uniprot/O75170		https://www.ncbi.nlm.nih.gov/omim/?term=610877	http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R2&submit=Quick%0D%2444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R2	rs13057311	0.19369	0.2304	0.2447	0.15	2	13	exonic	exonic	exonic	PPP6R2	PPP6R2	ENSG00000100239	nonsynonymous SNV	nonsynonymous SNV	unknown	PPP6R2:NM_001242900:exon19:c.G2117A:p.R706K,PPP6R2:NM_001242898:exon20:c.G2195A:p.R732K,PPP6R2:NM_014678:exon19:c.G2114A:p.R705K,PPP6R2:NM_001242899:exon19:c.G2117A:p.R706K,	PPP6R2:uc003blc.3:exon20:c.G2195A:p.R732K,PPP6R2:uc003blb.2:exon21:c.G2195A:p.R732K,PPP6R2:uc003bkz.2:exon19:c.G2114A:p.R705K,PPP6R2:uc003bld.2:exon9:c.G794A:p.R265K,PPP6R2:uc003bky.2:exon19:c.G2117A:p.R706K,PPP6R2:uc003bla.2:exon19:c.G2117A:p.R706K,	UNKNOWN	Het;G>A	1658;77|72	Het;G>A	1623;52|75	Hom;G>A	3382;0|124
22_57.194_74.694	Chr22:45430165-51215481	0.519	22	50942121	50942121	C	T	snp	nonsynonymous SNV	G1748A	S583N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	LMF2	Lmf2	ENSG00000100258	lipase maturation factor 2	chr22:50941376-50946135			 	Assembly of active LPL and LIPC lipase complexes		GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LMF2	https://www.uniprot.org/uniprot/Q9BU23			http://www.informatics.jax.org/searchtool/Search.do?query=LMF2&submit=Quick%0D%2451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF2	rs13056405	0.138578	0.1957	0.1908	0.15	2	13	exonic	exonic	exonic	LMF2	LMF2	ENSG00000100258	nonsynonymous SNV	nonsynonymous SNV	unknown	LMF2:NM_033200:exon14:c.G1823A:p.S608N,	LMF2:uc003blo.2:exon14:c.G1748A:p.S583N,LMF2:uc003blp.2:exon14:c.G1823A:p.S608N,	UNKNOWN	Het;C>T	571;28|25	Het;C>T	429;20|20	Hom;C>T	997;2|34
22_57.194_74.694	Chr22:45430165-51215481	0.519	22	50943232	50943232	G	A	snp	nonsynonymous SNV	C1361T	T454M	polar,hydrophilic,neutral	hydrophobic,neutral	LMF2	Lmf2	ENSG00000100258	lipase maturation factor 2	chr22:50941376-50946135			 	Assembly of active LPL and LIPC lipase complexes		GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LMF2	https://www.uniprot.org/uniprot/Q9BU23			http://www.informatics.jax.org/searchtool/Search.do?query=LMF2&submit=Quick%0D%2451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF2	rs8136495	0.141973	0.2052	0.1853	0.23	3	13	exonic	exonic	exonic	LMF2	LMF2	ENSG00000100258	nonsynonymous SNV	nonsynonymous SNV	unknown	LMF2:NM_033200:exon10:c.C1436T:p.T479M,	LMF2:uc003blo.2:exon10:c.C1361T:p.T454M,LMF2:uc003blp.2:exon10:c.C1436T:p.T479M,	UNKNOWN	Het;G>A	1314;73|62	Het;G>A	1321;51|63	Hom;G>A	2828;0|108
22_57.194_74.694	Chr22:45430165-51215481	0.519	22	50969647	50969647	C	G	snp	nonsynonymous SNV	G320C	G107A	aliphatic,neutral	aliphatic,hydrophobic,neutral	ODF3B	Odf3b	ENSG00000177989	outer dense fiber of sperm tails 3B	chr22:50968139-50971009		Multiple Sclerosis; Erythrocyte Indices; Type 2 Diabetes| edema | rosiglitazone	 					http://www.genecards.org/index.php?path=/Search/keyword/ODF3B				http://www.informatics.jax.org/searchtool/Search.do?query=ODF3B&submit=Quick%0D%14115ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ODF3B	rs139023197	0.0201677	0.0280	0.0326	0.42	5	12	exonic	exonic	exonic	ODF3B	ODF3B	ENSG00000177989	nonsynonymous SNV	nonsynonymous SNV	unknown	ODF3B:NM_001014440:exon4:c.G391C:p.G131R,	ODF3B:uc003bmg.2:exon3:c.G320C:p.G107A,ODF3B:uc003bmh.2:exon4:c.G391C:p.G131R,	UNKNOWN	Het;C>G	1294;53|59	Het;C>G	1367;47|64	Hom;C>G	3489;0|127
N	N	-	2	100915772	100915772	A	G	snp	nonsynonymous SNV	T1277C	L426P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	LONRF2	Lonrf2	ENSG00000170500	LON peptidase N-terminal domain and ring finger 2	chr2:100889753-100939195		Celiac Disease|	 		GO:0000209;protein polyubiquitination;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA	GO:0005622;intracellular;IBA	GO:0008270;zinc ion binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/LONRF2				http://www.informatics.jax.org/searchtool/Search.do?query=LONRF2&submit=Quick%0D%12723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LONRF2	rs4851287	0.771765	0.7081	0.6918	0.23	3	13	exonic	exonic	exonic	LONRF2	LONRF2	ENSG00000170500	nonsynonymous SNV	nonsynonymous SNV	unknown	LONRF2:NM_198461:exon6:c.T1277C:p.L426P,	LONRF2:uc002tal.4:exon6:c.T1277C:p.L426P,	UNKNOWN	Het;A>G	564;23|26	Ref		Hom;A>G	1439;0|52
N	N	-	2	100938481	100938481	C	G	snp	nonsynonymous SNV	G75C	Q25H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	LONRF2	Lonrf2	ENSG00000170500	LON peptidase N-terminal domain and ring finger 2	chr2:100889753-100939195		Celiac Disease|	 		GO:0000209;protein polyubiquitination;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA	GO:0005622;intracellular;IBA	GO:0008270;zinc ion binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/LONRF2				http://www.informatics.jax.org/searchtool/Search.do?query=LONRF2&submit=Quick%0D%12723ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LONRF2	rs74177696	0.394768	0	0.5275	0.33	4	12	exonic	exonic	exonic	LONRF2	LONRF2	ENSG00000170500	nonsynonymous SNV	nonsynonymous SNV	unknown	LONRF2:NM_198461:exon1:c.G75C:p.Q25H,	LONRF2:uc002tal.4:exon1:c.G75C:p.Q25H,	UNKNOWN	Het;C>G	222;2|11	Ref		Hom;C>G	402;0|16
N	N	-	2	107040564	107040564	C	T	snp	nonsynonymous SNV	G3859A	E1287K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	RGPD3	Ranbp2	ENSG00000153165	RANBP2-like and GRIP domain containing 3	chr2:107021446-107084832	This gene is located in a cluster of Ran-binding protein related genes on chromosome 2 which arose through duplication in primates. The encoded protein contains an N-terminal TPR (tetratricopeptide repeat) domain, two Ran-binding domains, and a C-terminal GRIP domain (golgin-97, RanBP2alpha, Imh1p and p230/golgin-245) domain. [provided by RefSeq, Sep 2011]		Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice on some backgrounds display reduced ATP levels in the CNS, decreased glucose clearance, decreased weight gain on a high fat diet, and reduced scotopic responses.		GO:0000042;protein targeting to Golgi;IEA|GO:0046907;intracellular transport;IEA	GO:0005622;intracellular;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RGPD3	https://www.uniprot.org/uniprot/A6NKT7		https://www.ncbi.nlm.nih.gov/omim/?term=612706	http://www.informatics.jax.org/searchtool/Search.do?query=RGPD3&submit=Quick%0D%9636ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGPD3	rs5007560	0.142572	0.2064	0.2290	0.50	6	12	exonic	exonic	exonic	RGPD3	RGPD3	ENSG00000153165	nonsynonymous SNV	nonsynonymous SNV	unknown	RGPD3:NM_001144013:exon20:c.G3859A:p.E1287K,	RGPD3:uc010ywi.1:exon20:c.G3859A:p.E1287K,	UNKNOWN	Het;C>T	4295;44|165	Ref		Hom;C>T	13798;1|501
N	N	-	2	107073501	107073501	C	T	snp	nonsynonymous SNV	G331A	D111N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	RGPD3	Ranbp2	ENSG00000153165	RANBP2-like and GRIP domain containing 3	chr2:107021446-107084832	This gene is located in a cluster of Ran-binding protein related genes on chromosome 2 which arose through duplication in primates. The encoded protein contains an N-terminal TPR (tetratricopeptide repeat) domain, two Ran-binding domains, and a C-terminal GRIP domain (golgin-97, RanBP2alpha, Imh1p and p230/golgin-245) domain. [provided by RefSeq, Sep 2011]		Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice on some backgrounds display reduced ATP levels in the CNS, decreased glucose clearance, decreased weight gain on a high fat diet, and reduced scotopic responses.		GO:0000042;protein targeting to Golgi;IEA|GO:0046907;intracellular transport;IEA	GO:0005622;intracellular;IEA		http://www.genecards.org/index.php?path=/Search/keyword/RGPD3	https://www.uniprot.org/uniprot/A6NKT7		https://www.ncbi.nlm.nih.gov/omim/?term=612706	http://www.informatics.jax.org/searchtool/Search.do?query=RGPD3&submit=Quick%0D%9636ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGPD3	rs62152530	0	0	0.7627	0.58	7	12	exonic	exonic	exonic	RGPD3	RGPD3	ENSG00000153165	nonsynonymous SNV	nonsynonymous SNV	unknown	RGPD3:NM_001144013:exon4:c.G331A:p.D111N,	RGPD3:uc010ywi.1:exon4:c.G331A:p.D111N,	UNKNOWN	Het;C>T	2181;150|108	Ref		Hom;C>T	6716;12|277
N	N	-	2	108875244	108875244	T	C	snp	nonsynonymous SNV	T581C	M194T	hydrophobic,neutral	polar,hydrophilic,neutral	SULT1C3	Sult1c1	ENSG00000196228	sulfotransferase family 1C member 3	chr2:108863651-108881807		Tobacco Use Disorder	 		GO:0006790;sulfur compound metabolic process;IEA	GO:0005737;cytoplasm;IEA	GO:0004027;alcohol sulfotransferase activity;IDA|GO:0004062;aryl sulfotransferase activity;IEA|GO:0008146;sulfotransferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SULT1C3			https://www.ncbi.nlm.nih.gov/omim/?term=617151	http://www.informatics.jax.org/searchtool/Search.do?query=SULT1C3&submit=Quick%0D%16295ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SULT1C3	rs6722745	0.508387	0.3924	0.3916	0.08	1	13	exonic	exonic	exonic	SULT1C3	SULT1C3	ENSG00000196228	nonsynonymous SNV	nonsynonymous SNV	unknown	SULT1C3:NM_001008743:exon5:c.T581C:p.M194T,	SULT1C3:uc010ywo.2:exon5:c.T581C:p.M194T,	UNKNOWN	Het;T>C	532;11|23	Ref		Hom;T>C	844;0|33
N	N	-	2	113955074	113955074	G	A	snp	nonsynonymous SNV	G13A	V5M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	PSD4	Psd4	ENSG00000125637	pleckstrin and Sec7 domain containing 4	chr2:113914902-113966973			 		GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0032587;ruffle membrane;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PSD4	https://www.uniprot.org/uniprot/Q8NDX1		https://www.ncbi.nlm.nih.gov/omim/?term=614442	http://www.informatics.jax.org/searchtool/Search.do?query=PSD4&submit=Quick%0D%5804ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD4	rs902695	0.440895	0	0.5550	1	0	0	intronic	exonic	intronic	PSD4	PSD4	ENSG00000125637	Na	nonsynonymous SNV	Na	Na	PSD4:uc010yxs.2:exon1:c.G13A:p.V5M,	Na	Het;G>A	282;25|13	Het;G>A	340;22|16	Hom;G>A	580;0|22
N	N	-	2	11774324	11774324	G	A	snp	nonsynonymous SNV	G2053A	D685N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	GREB1	Greb1	ENSG00000196208	growth regulation by estrogen in breast cancer 1	chr2:11674242-11782914	This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Celiac Disease|	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/GREB1			https://www.ncbi.nlm.nih.gov/omim/?term=611736	http://www.informatics.jax.org/searchtool/Search.do?query=GREB1&submit=Quick%0D%16288ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GREB1	rs2304402	0.404952	0.4785	0.4485	0.08	1	13	exonic	exonic	exonic	GREB1	GREB1	ENSG00000196208	nonsynonymous SNV	nonsynonymous SNV	unknown	GREB1:NM_014668:exon29:c.G5059A:p.D1687N,	GREB1:uc002rbp.1:exon12:c.G2053A:p.D685N,GREB1:uc002rbk.1:exon29:c.G5059A:p.D1687N,	UNKNOWN	Het;G>A	1463;69|67	Ref		Hom;G>A	3599;0|132
N	N	-	2	120438523	120438523	A	G	snp	nonsynonymous SNV	A94G	I32V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TMEM177	Tmem177	ENSG00000144120	transmembrane protein 177	chr2:120436743-120444083			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM177	https://www.uniprot.org/uniprot/Q53S58			http://www.informatics.jax.org/searchtool/Search.do?query=TMEM177&submit=Quick%0D%8569ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM177	rs13011768	0.778155	0.7715	0.8300	0.08	1	13	exonic	exonic	exonic	TMEM177	TMEM177	ENSG00000144120	nonsynonymous SNV	nonsynonymous SNV	unknown	TMEM177:NM_001105199:exon2:c.A94G:p.I32V,TMEM177:NM_030577:exon2:c.A94G:p.I32V,TMEM177:NM_001105198:exon2:c.A94G:p.I32V,	TMEM177:uc021vnk.1:exon1:c.A94G:p.I32V,TMEM177:uc002tmd.2:exon2:c.A94G:p.I32V,TMEM177:uc002tmc.1:exon2:c.A94G:p.I32V,TMEM177:uc010flh.3:exon2:c.A94G:p.I32V,TMEM177:uc010flg.1:exon2:c.A94G:p.I32V,	UNKNOWN	Het;A>G	2278;116|98	Het;A>G	1913;112|94	Hom;A>G	5335;1|201
N	N	-	2	120439230	120439230	C	G	snp	nonsynonymous SNV	C801G	D267E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	TMEM177	Tmem177	ENSG00000144120	transmembrane protein 177	chr2:120436743-120444083			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM177	https://www.uniprot.org/uniprot/Q53S58			http://www.informatics.jax.org/searchtool/Search.do?query=TMEM177&submit=Quick%0D%8569ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM177	rs1983406	0.778155	0.7711	0.8300	0.08	1	13	exonic	exonic	exonic	TMEM177	TMEM177	ENSG00000144120	nonsynonymous SNV	nonsynonymous SNV	unknown	TMEM177:NM_001105199:exon2:c.C801G:p.D267E,TMEM177:NM_030577:exon2:c.C801G:p.D267E,TMEM177:NM_001105198:exon2:c.C801G:p.D267E,	TMEM177:uc021vnk.1:exon1:c.C801G:p.D267E,TMEM177:uc002tmd.2:exon2:c.C801G:p.D267E,TMEM177:uc002tmc.1:exon2:c.C801G:p.D267E,TMEM177:uc010flg.1:exon2:c.C801G:p.D267E,	UNKNOWN	Het;C>G	1895;97|79	Het;C>G	1675;65|67	Hom;C>G	3680;0|128
N	N	-	2	128394877	128394877	C	CT	indel	frameshift substitution	968_968delinsCT	 	 	 	MYO7B	Myo7b	ENSG00000169994	myosin VIIB	chr2:128293378-128395304		Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0030154;cell differentiation;IEA|GO:1904970;brush border assembly;IPI	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005902;microvillus;IDA|GO:0005903;brush border;IDA|GO:0016459;myosin complex;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0090651;apical cytoplasm;ISS	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MYO7B			https://www.ncbi.nlm.nih.gov/omim/?term=606541	http://www.informatics.jax.org/searchtool/Search.do?query=MYO7B&submit=Quick%0D%12614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO7B	rs3217355	0.31869	0.6554	0.2969	1	0	0	intronic	exonic	intronic	MYO7B	MYO7B	ENSG00000169994	Na	frameshift substitution	Na	Na	MYO7B:uc002tos.2:exon6:c.968_968delinsCT,	Na	Het;+T	537;40|20	Het;+T	1198;21|36	Hom;+T	2025;0|53
N	N	-	2	152500449	152500449	C	G	snp	nonsynonymous SNV	G7839C	K2613N	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	NEB	Neb	ENSG00000183091	nebulin	chr2:152341850-152591001	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]	Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height	Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.	Striated Muscle Contraction	GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NEB		https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=161650	http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB	rs13013209	0.293331	0.3498	0.4150	0.62	8	13	exonic	exonic	exonic	NEB	NEB	ENSG00000183091	nonsynonymous SNV	nonsynonymous SNV	unknown	NEB:NM_001271208:exon57:c.G7839C:p.K2613N,NEB:NM_001164508:exon57:c.G7839C:p.K2613N,NEB:NM_001164507:exon57:c.G7839C:p.K2613N,NEB:NM_004543:exon57:c.G7839C:p.K2613N,	NEB:uc010fnx.3:exon57:c.G7839C:p.K2613N,NEB:uc031rpp.1:exon57:c.G7839C:p.K2613N,NEB:uc021vrc.1:exon57:c.G7839C:p.K2613N,NEB:uc021vrd.1:exon57:c.G7839C:p.K2613N,NEB:uc002txu.3:exon57:c.G7839C:p.K2613N,NEB:uc021vrb.1:exon55:c.G7839C:p.K2613N,	UNKNOWN	Het;C>G	564;19|19	Het;C>G	328;26|17	Hom;C>G	887;0|33
N	N	-	2	160112881	160112881	G	T	snp	nonsynonymous SNV	C958A	R320S	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	WDSUB1	Wdsub1	ENSG00000196151	WD repeat, sterile alpha motif and U-box domain containing 1	chr2:160092304-160143310			 		GO:0016567;protein ubiquitination;IEA		GO:0004842;ubiquitin-protein transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/WDSUB1				http://www.informatics.jax.org/searchtool/Search.do?query=WDSUB1&submit=Quick%0D%16270ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDSUB1	rs7591849	0.473642	0.6223	0.5046	0.15	2	13	exonic	exonic	exonic	WDSUB1	WDSUB1	ENSG00000196151	nonsynonymous SNV	nonsynonymous SNV	unknown	WDSUB1:NM_001128213:exon9:c.C958A:p.R320S,WDSUB1:NM_152528:exon9:c.C958A:p.R320S,WDSUB1:NM_001128212:exon9:c.C958A:p.R320S,	WDSUB1:uc002ual.4:exon9:c.C958A:p.R320S,WDSUB1:uc002uak.4:exon9:c.C958A:p.R320S,WDSUB1:uc010foo.3:exon5:c.C682A:p.R228S,WDSUB1:uc002uaj.4:exon9:c.C958A:p.R320S,	UNKNOWN	Het;G>T	926;58|44	Het;G>T	672;61|36	Hom;G>T	2828;2|106
N	N	-	2	165476253	165476253	A	T	snp	nonsynonymous SNV	T268A	F90I	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GRB14	Grb14	ENSG00000115290	growth factor receptor bound protein 14	chr2:165349322-165478358	The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	Forced Expiratory Volume; Triglycerides; Tobacco Use Disorder; Waist-Hip Ratio; Erythrocyte Count; smoking; Diabetes Mellitus, Type 2	Homozygous mutation of this gene results in improved glucose tolerance, lower circulating insulin levels and increased incorporation of glucose into glycogen in the liver and skeletal muscle of males. Both males and females exhibit a decrease in body size.	Tie2 Signaling	GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0050900;leukocyte migration;TAS	GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0042802;identical protein binding;IMP|GO:0042803;protein homodimerization activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/GRB14	https://www.uniprot.org/uniprot/Q14449		https://www.ncbi.nlm.nih.gov/omim/?term=601524	http://www.informatics.jax.org/searchtool/Search.do?query=GRB14&submit=Quick%0D%4578ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRB14	rs61748245	0.443091	0.5238	0.6060	0.23	3	13	exonic	exonic	exonic	GRB14	GRB14	ENSG00000115290	nonsynonymous SNV	nonsynonymous SNV	unknown	GRB14:NM_004490:exon2:c.T268A:p.F90I,	GRB14:uc002ucl.3:exon2:c.T268A:p.F90I,	UNKNOWN	Het;A>T	1435;60|68	Het;A>T	990;69|54	Hom;A>T	2442;0|91
N	N	-	2	167334085	167334085	G	T	snp	nonsynonymous SNV	C122A	T41N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	SCN7A	Scn7a	ENSG00000136546	sodium voltage-gated channel alpha subunit 7	chr2:167260083-167350757	This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]	hypertension; Frontal Lobe; Amyotrophic lateral sclerosis; Cholesterol, HDL; left ventricular function; Amyotrophic Lateral Sclerosis	Mice homozygous for disruptions in this gene have a modified dietary preference for NaCl but are phenotypically normal otherwise.	Phase 0 - rapid depolarisation	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;TAS|GO:0006936;muscle contraction;TAS|GO:0019228;neuronal action potential;IBA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0055078;sodium ion homeostasis;IEA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0097386;glial cell projection;IEA	GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;TAS|GO:0005272;sodium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCN7A	https://www.uniprot.org/uniprot/Q01118		https://www.ncbi.nlm.nih.gov/omim/?term=182392	http://www.informatics.jax.org/searchtool/Search.do?query=SCN7A&submit=Quick%0D%7366ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN7A	rs7565062	0.688698	0.7017	0.7247	0.15	2	13	exonic	exonic	exonic	SCN7A	SCN7A	ENSG00000136546	nonsynonymous SNV	nonsynonymous SNV	unknown	SCN7A:NM_002976:exon2:c.C122A:p.T41N,	SCN7A:uc002udu.2:exon2:c.C122A:p.T41N,SCN7A:uc002udv.1:exon2:c.C122A:p.T41N,	UNKNOWN	Het;G>T	520;27|22	Het;G>T	775;48|38	Hom;G>T	2638;0|96
N	N	-	2	187559047	187559047	G	GCAA	indel	nonframeshift substitution	147_147delinsGCAA	 	 	 	FAM171B	Fam171b	ENSG00000144369	family with sequence similarity 171 member B	chr2:187558698-187630685			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/FAM171B	https://www.uniprot.org/uniprot/Q6P995			http://www.informatics.jax.org/searchtool/Search.do?query=FAM171B&submit=Quick%0D%8600ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM171B	rs144403657	0.519569	0.5316	0.4639	1	0	0	exonic	exonic	exonic	FAM171B	FAM171B	ENSG00000144369	nonframeshift substitution	nonframeshift substitution	unknown	FAM171B:NM_177454:exon1:c.147_147delinsGCAA,	FAM171B:uc002ups.3:exon1:c.147_147delinsGCAA,FAM171B:uc002upr.1:exon1:c.147_147delinsGCAA,	UNKNOWN	Het;+CAA	644;6|24	Het;+CAA	882;3|24	Hom;+CAA	1134;0|30
N	N	-	2	20189015	20189015	T	C	snp	nonsynonymous SNV	A53G	Q18R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	WDR35	Wdr35	ENSG00000118965	WD repeat domain 35	chr2:20110021-20189892	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]	Short rib-polydactyly syndrome type V	Mice homozygous for an ENU induced mutation exhibit mid-gestation lethality, heart development defects, turning defects, polysyndactyly, hypoplastic lungs, tracheoesophageal fistula, herniated diaphragm and absent embryonic cilia.	Intraflagellar transport	GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0030030;cell projection organization;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035721;intraciliary retrograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0045019;negative regulation of nitric oxide biosynthetic process;IEA|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IBA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IEA|GO:0097421;liver regeneration;IEA|GO:0097756;negative regulation of blood vessel diameter;IEA|GO:1901555;response to paclitaxel;IEA|GO:1905705;cellular response to paclitaxel;IEA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;ISS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;ISS|GO:0030991;intraciliary transport particle A;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS	GO:0035091;phosphatidylinositol binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/WDR35	https://www.uniprot.org/uniprot/Q9P2L0	https://hpo.jax.org/app/browse/search?q=WDR35&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613602	http://www.informatics.jax.org/searchtool/Search.do?query=WDR35&submit=Quick%0D%5023ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR35	rs1060742	0.11861	0.0654	0.1065	0.23	3	13	exonic	exonic	exonic	WDR35	WDR35	ENSG00000118965	nonsynonymous SNV	nonsynonymous SNV	unknown	WDR35:NM_020779:exon2:c.A53G:p.Q18R,WDR35:NM_001006657:exon2:c.A53G:p.Q18R,	WDR35:uc002rdi.3:exon2:c.A53G:p.Q18R,WDR35:uc002rdj.3:exon2:c.A53G:p.Q18R,	UNKNOWN	Het;T>C	1436;65|71	Het;T>C	754;66|45	Hom;T>C	2922;0|111
N	N	-	2	209036712	209036712	T	C	snp	nonsynonymous SNV	A454G	S152G	polar,hydrophilic,neutral	aliphatic,neutral	C2orf80	D630023F18Rik	ENSG00000188674	chromosome 2 open reading frame 80	chr2:209030067-209054797			 					http://www.genecards.org/index.php?path=/Search/keyword/C2orf80			https://www.ncbi.nlm.nih.gov/omim/?term=615536	http://www.informatics.jax.org/searchtool/Search.do?query=C2orf80&submit=Quick%0D%16081ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf80	rs10804166	0.856829	0.8901	0.8895	0.23	3	13	exonic	exonic	exonic	C2orf80	C2orf80	ENSG00000188674	nonsynonymous SNV	nonsynonymous SNV	unknown	C2orf80:NM_001099334:exon7:c.A454G:p.S152G,	C2orf80:uc002vcr.3:exon7:c.A454G:p.S152G,	UNKNOWN	Het;T>C	1325;42|59	Het;T>C	565;18|29	Hom;T>C	1696;0|66
N	N	-	2	211421452	211421452	A	ATCT	indel	nonframeshift substitution	13_13delinsATCT	 	 	 	CPS1	Cps1	ENSG00000021826	carbamoyl-phosphate synthase 1	chr2:211342406-211543831	The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]	Acquired Immunodeficiency Syndrome|Disease Progression; Homocysteine; Tobacco Use Disorder; Creatinine; necrotizing enterocolitis; fibrinogen; Fibrinogen; Homocysteine levels ; Epilepsy|Hyperammonemia; vascular disease; pulmonary hypertension; Schizophrenia; homocysteine; Premature Birth; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone	Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia.	Urea cycle	GO:0000050;urea cycle;TAS|GO:0001889;liver development;IEA|GO:0006207;'de novo' pyrimidine nucleobase biosynthetic process;IEA|GO:0006508;proteolysis;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0006807;nitrogen compound metabolic process;IEA|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0014075;response to amine;IEA|GO:0019240;citrulline biosynthetic process;NAS|GO:0019433;triglyceride catabolic process;IMP|GO:0032094;response to food;IEA|GO:0032496;response to lipopolysaccharide;IDA|GO:0033762;response to glucagon;IEA|GO:0034201;response to oleic acid;IEA|GO:0042311;vasodilation;IMP|GO:0042493;response to drug;IEA|GO:0042594;response to starvation;IEA|GO:0043200;response to amino acid;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0046209;nitric oxide metabolic process;IMP|GO:0048545;response to steroid hormone;IEA|GO:0050667;homocysteine metabolic process;IDA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA|GO:0055081;anion homeostasis;IEA|GO:0060416;response to growth hormone;IEA|GO:0070365;hepatocyte differentiation;IEA|GO:0070409;carbamoyl phosphate biosynthetic process;IMP|GO:0071320;cellular response to cAMP;IEA|GO:0071377;cellular response to glucagon stimulus;IEA|GO:0071400;cellular response to oleic acid;IEA|GO:0071548;response to dexamethasone;IEA|GO:1903718;cellular response to ammonia;IMP|GO:0000050;urea cycle;TAS|GO:0001889;liver development;IEA|GO:0006207;'de novo' pyrimidine nucleobase biosynthetic process;IEA|GO:0006508;proteolysis;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0006807;nitrogen compound metabolic process;IEA|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0014075;response to amine;IEA|GO:0019240;citrulline biosynthetic process;NAS|GO:0019433;triglyceride catabolic process;IMP|GO:0032094;response to food;IEA|GO:0032496;response to lipopolysaccharide;IDA|GO:0033762;response to glucagon;IEA|GO:0034201;response to oleic acid;IEA|GO:0042311;vasodilation;IMP|GO:0042493;response to drug;IEA|GO:0042594;response to starvation;IEA|GO:0043200;response to amino acid;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0046209;nitric oxide metabolic process;IMP|GO:0048545;response to steroid hormone;IEA|GO:0050667;homocysteine metabolic process;IDA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA|GO:0055081;anion homeostasis;IEA|GO:0060416;response to growth hormone;IEA|GO:0070365;hepatocyte differentiation;IEA|GO:0070409;carbamoyl phosphate biosynthetic process;IMP|GO:0071320;cellular response to cAMP;IEA|GO:0071377;cellular response to glucagon stimulus;IEA|GO:0071400;cellular response to oleic acid;IEA|GO:0071548;response to dexamethasone;IEA|GO:1903718;cellular response to ammonia;IMP	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0042645;mitochondrial nucleoid;IDA|GO:0043234;protein complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004087;carbamoyl-phosphate synthase (ammonia) activity;IMP|GO:0004088;carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity;IEA|GO:0004175;endopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0016595;glutamate binding;IEA|GO:0016874;ligase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0046872;metal ion binding;IEA|GO:0072341;modified amino acid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CPS1	https://www.uniprot.org/uniprot/P31327	https://hpo.jax.org/app/browse/search?q=CPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608307	http://www.informatics.jax.org/searchtool/Search.do?query=CPS1&submit=Quick%0D%63ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPS1	rs3835047	0.477037	0.4615	0.4350	1	0	0	exonic	exonic	exonic	CPS1	CPS1	ENSG00000021826	nonframeshift substitution	nonframeshift substitution	unknown	CPS1:NM_001122633:exon2:c.13_13delinsATCT,	CPS1:uc010fur.3:exon2:c.13_13delinsATCT,	UNKNOWN	Het;+TCT	1000;32|27	Het;+TCT	2371;65|60	Hom;+TCT	6400;0|143
N	N	-	2	214727221	214727221	A	C	snp	nonsynonymous SNV	A636C	Q212H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	SPAG16	Spag16	ENSG00000144451	sperm associated antigen 16	chr2:214149113-215275225	Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008]	Survival; Exercise Test; Stroke; Tobacco Use Disorder; Bone Density; Albuminuria; Myocardial Infarction; Chronic Obstructive Pulmonary Disease; Hemoglobins; Electrocardiography	Chimeric males carrying one copy of the mutated allele have impaired spermatogenesis, a significant loss of germ cells at the round spermatid stage, and disorganized sperm axoneme structure. No offspring carrying the mutated allele are produced from matings using male chimeras.		GO:0007288;sperm axoneme assembly;IEA|GO:0030030;cell projection organization;IEA|GO:0035082;axoneme assembly;IMP|GO:0051012;microtubule sliding;IEA|GO:0060271;cilium assembly;IEA|GO:0060294;cilium movement involved in cell motility;IEA|GO:0097231;cell motility in response to calcium ion;IEA|GO:0007288;sperm axoneme assembly;IEA|GO:0030030;cell projection organization;IEA|GO:0035082;axoneme assembly;IMP|GO:0051012;microtubule sliding;IEA|GO:0060271;cilium assembly;IEA|GO:0060294;cilium movement involved in cell motility;IEA|GO:0097231;cell motility in response to calcium ion;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:1990716;axonemal central apparatus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SPAG16	https://www.uniprot.org/uniprot/Q8N0X2		https://www.ncbi.nlm.nih.gov/omim/?term=612173	http://www.informatics.jax.org/searchtool/Search.do?query=SPAG16&submit=Quick%0D%172ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPAG16	rs2042791	0.384185	0.3274	0.3904	0.08	1	13	exonic	exonic	exonic	SPAG16	SPAG16	ENSG00000144451	nonsynonymous SNV	nonsynonymous SNV	unknown	SPAG16:NM_024532:exon11:c.A1083C:p.Q361H,	SPAG16:uc010fuz.3:exon9:c.A636C:p.Q212H,SPAG16:uc002veq.4:exon11:c.A1083C:p.Q361H,SPAG16:uc010zjk.3:exon10:c.A801C:p.Q267H,SPAG16:uc002ver.4:exon13:c.A921C:p.Q307H,	UNKNOWN	Het;A>C	1233;48|49	Het;A>C	695;47|34	Hom;A>C	2961;0|110
N	N	-	2	216878008	216878008	C	G	snp	nonsynonymous SNV	G43C	G15R	aliphatic,neutral	polar,hydrophilic,charged(+)	MREG	Mreg	ENSG00000118242	melanoregulin	chr2:216809213-216898819		Albuminuria; Alcoholism; Chronic Obstructive Pulmonary Disease	A spontaneous suppressor mutation restores normal melanocyte morphology and therefore coat color in mutations producing coat color dilution.		GO:0030318;melanocyte differentiation;IEA|GO:0032402;melanosome transport;IEA|GO:0043473;pigmentation;IEA|GO:0048066;developmental pigmentation;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0042470;melanosome;IEA|GO:0043234;protein complex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MREG	https://www.uniprot.org/uniprot/Q8N565		https://www.ncbi.nlm.nih.gov/omim/?term=609207	http://www.informatics.jax.org/searchtool/Search.do?query=MREG&submit=Quick%0D%4954ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MREG	rs1864253	0.677117	0.6766	0.6400	0.15	2	13	exonic	exonic	exonic	MREG	MREG	ENSG00000118242	nonsynonymous SNV	nonsynonymous SNV	unknown	MREG:NM_018000:exon1:c.G43C:p.G15R,	MREG:uc002vfo.3:exon1:c.G43C:p.G15R,	UNKNOWN	Het;C>G	836;59|41	Het;C>G	1270;83|62	Hom;C>G	3726;2|139
N	N	-	2	216904019	216904019	A	T	snp	nonsynonymous SNV	T891A	F297L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PECR	Pecr	ENSG00000115425	peroxisomal trans-2-enoyl-CoA reductase	chr2:216861052-216947678		Alcohol dependence; Chronic Obstructive Pulmonary Disease	 	Alpha-oxidation of phytanate	GO:0001561;fatty acid alpha-oxidation;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0033306;phytol metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA	GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS	GO:0005102;receptor binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0019166;trans-2-enoyl-CoA reductase (NADPH) activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/PECR	https://www.uniprot.org/uniprot/Q9BY49		https://www.ncbi.nlm.nih.gov/omim/?term=605843	http://www.informatics.jax.org/searchtool/Search.do?query=PECR&submit=Quick%0D%4603ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PECR	rs9288513	0.18131	0.1426	0.1317	0.15	2	13	exonic	exonic	exonic	PECR	PECR	ENSG00000115425	nonsynonymous SNV	nonsynonymous SNV	unknown	PECR:NM_018441:exon8:c.T891A:p.F297L,	PECR:uc002vft.3:exon8:c.T891A:p.F297L,	UNKNOWN	Het;A>T	481;17|22	Het;A>T	433;27|22	Hom;A>T	1188;0|45
N	N	-	2	216923679	216923679	C	T	snp	nonsynonymous SNV	G445A	E149K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	PECR	Pecr	ENSG00000115425	peroxisomal trans-2-enoyl-CoA reductase	chr2:216861052-216947678		Alcohol dependence; Chronic Obstructive Pulmonary Disease	 	Alpha-oxidation of phytanate	GO:0001561;fatty acid alpha-oxidation;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0033306;phytol metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA	GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS	GO:0005102;receptor binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0019166;trans-2-enoyl-CoA reductase (NADPH) activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/PECR	https://www.uniprot.org/uniprot/Q9BY49		https://www.ncbi.nlm.nih.gov/omim/?term=605843	http://www.informatics.jax.org/searchtool/Search.do?query=PECR&submit=Quick%0D%4603ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PECR	rs1429148	0.17512	0.1114	0.1103	0.08	1	13	exonic	exonic	exonic	PECR	PECR	ENSG00000115425	nonsynonymous SNV	nonsynonymous SNV	unknown	PECR:NM_018441:exon4:c.G445A:p.E149K,	PECR:uc002vft.3:exon4:c.G445A:p.E149K,	UNKNOWN	Het;C>T	392;42|23	Het;C>T	810;17|34	Hom;C>T	1563;0|63
N	N	-	2	219903258	219903258	T	G	snp	nonsynonymous SNV	A1C	M1L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	CCDC108	 																	rs6736922	0.589457	0.6962	0.6993	0.08	1	13	exonic	exonic	exonic	CCDC108	CCDC108	ENSG00000181378	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC108:NM_001278296:exon3:c.A1C:p.M1L,CCDC108:NM_001278295:exon4:c.A163C:p.M55L,CCDC108:NM_194302:exon4:c.A196C:p.M66L,CCDC108:NM_152389:exon3:c.A1C:p.M1L,	CCDC108:uc010zkq.2:exon3:c.A1C:p.M1L,CCDC108:uc002vjn.4:exon3:c.A1C:p.M1L,CCDC108:uc002vjl.2:exon4:c.A196C:p.M66L,CCDC108:uc010zkp.2:exon4:c.A163C:p.M55L,	UNKNOWN	Het;T>G	997;45|44	Het;T>G	1308;42|57	Hom;T>G	1813;0|66
N	N	-	2	220348751	220348751	C	T	snp	nonsynonymous SNV	C6566T	P2189L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	SPEG	Speg	ENSG00000072195	SPEG complex locus	chr2:220299568-220363009	This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function.		GO:0006468;protein phosphorylation;IEA|GO:0007517;muscle organ development;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0042692;muscle cell differentiation;IEA	GO:0005634;nucleus;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPEG	https://www.uniprot.org/uniprot/Q15772	https://hpo.jax.org/app/browse/search?q=SPEG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615950	http://www.informatics.jax.org/searchtool/Search.do?query=SPEG&submit=Quick%0D%1426ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPEG	rs10755037	0.285543	0.2508	0.2739	0.23	3	13	exonic	exonic	exonic	SPEG	SPEG	ENSG00000072195	nonsynonymous SNV	nonsynonymous SNV	unknown	SPEG:NM_005876:exon30:c.C6566T:p.P2189L,	SPEG:uc010fwg.3:exon30:c.C6566T:p.P2189L,	UNKNOWN	Het;C>T	2061;78|90	Het;C>T	2023;95|89	Hom;C>T	3704;2|136
N	N	-	2	220354108	220354108	A	G	snp	nonsynonymous SNV	A8368G	R2790G	polar,hydrophilic,charged(+)	aliphatic,neutral	SPEG	Speg	ENSG00000072195	SPEG complex locus	chr2:220299568-220363009	This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function.		GO:0006468;protein phosphorylation;IEA|GO:0007517;muscle organ development;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0042692;muscle cell differentiation;IEA	GO:0005634;nucleus;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPEG	https://www.uniprot.org/uniprot/Q15772	https://hpo.jax.org/app/browse/search?q=SPEG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615950	http://www.informatics.jax.org/searchtool/Search.do?query=SPEG&submit=Quick%0D%1426ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPEG	rs55760516	0.408347	0.3737	0.3622	0.15	2	13	exonic	exonic	exonic	SPEG	SPEG	ENSG00000072195	nonsynonymous SNV	nonsynonymous SNV	unknown	SPEG:NM_005876:exon36:c.A8368G:p.R2790G,	SPEG:uc010fwg.3:exon36:c.A8368G:p.R2790G,	UNKNOWN	Het;A>G	688;56|30	Het;A>G	1258;59|57	Hom;A>G	3298;1|120
N	N	-	2	220355529	220355529	A	G	snp	nonsynonymous SNV	A9236G	H3079R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	SPEG	Speg	ENSG00000072195	SPEG complex locus	chr2:220299568-220363009	This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function.		GO:0006468;protein phosphorylation;IEA|GO:0007517;muscle organ development;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0042692;muscle cell differentiation;IEA	GO:0005634;nucleus;TAS	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPEG	https://www.uniprot.org/uniprot/Q15772	https://hpo.jax.org/app/browse/search?q=SPEG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615950	http://www.informatics.jax.org/searchtool/Search.do?query=SPEG&submit=Quick%0D%1426ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPEG	rs12464085	0.400958	0.3895	0.3552	0.15	2	13	exonic	exonic	exonic	SPEG	SPEG	ENSG00000072195	nonsynonymous SNV	nonsynonymous SNV	unknown	SPEG:NM_005876:exon38:c.A9236G:p.H3079R,	SPEG:uc010fwg.3:exon38:c.A9236G:p.H3079R,	UNKNOWN	Het;A>G	1483;91|66	Het;A>G	1576;95|73	Hom;A>G	5432;0|195
N	N	-	2	241405528	241405528	A	G	snp	nonsynonymous SNV	A1498G	S500G	polar,hydrophilic,neutral	aliphatic,neutral	GPC1	Gpc1	ENSG00000063660	glypican 1	chr2:241375088-241407493	Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.  These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]	breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction)	Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA	GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPC1	https://www.uniprot.org/uniprot/P35052		https://www.ncbi.nlm.nih.gov/omim/?term=600395	http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1	rs2228331	0.664337	0.7734	0.6642	0.08	1	12	exonic	exonic	exonic	GPC1	GPC1	ENSG00000063660	nonsynonymous SNV	nonsynonymous SNV	unknown	GPC1:NM_002081:exon9:c.A1498G:p.S500G,	GPC1:uc002vyw.4:exon9:c.A1498G:p.S500G,	UNKNOWN	Het;A>G	1431;57|64	Het;A>G	1221;59|61	Hom;A>G	2853;0|103
N	N	-	2	241463595	241463595	T	C	snp	nonsynonymous SNV	A279G	I93M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	ANKMY1	Ankmy1	ENSG00000144504	ankyrin repeat and MYND domain containing 1	chr2:241418839-241508626		Platelet Count; Alzheimer's disease ; Tobacco Use Disorder	 				GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANKMY1	https://www.uniprot.org/uniprot/Q9P2S6			http://www.informatics.jax.org/searchtool/Search.do?query=ANKMY1&submit=Quick%0D%8616ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKMY1	rs35996697	0.119409	0.1812	0.1460	0.08	1	13	exonic	exonic	exonic	ANKMY1	ANKMY1	ENSG00000144504	nonsynonymous SNV	nonsynonymous SNV	unknown	ANKMY1:NM_017844:exon6:c.A849G:p.I283M,ANKMY1:NM_001282771:exon8:c.A1539G:p.I513M,ANKMY1:NM_001282780:exon6:c.A849G:p.I283M,ANKMY1:NM_016552:exon7:c.A1272G:p.I424M,	ANKMY1:uc010fze.2:exon3:c.A279G:p.I93M,ANKMY1:uc002vza.1:exon6:c.A849G:p.I283M,ANKMY1:uc002vzd.1:exon6:c.A849G:p.I283M,ANKMY1:uc002vzc.1:exon6:c.A849G:p.I283M,ANKMY1:uc002vyz.1:exon7:c.A1272G:p.I424M,ANKMY1:uc010fzd.1:exon8:c.A1539G:p.I513M,ANKMY1:uc002vze.3:exon5:c.A555G:p.I185M,	UNKNOWN	Het;T>C	3521;138|146	Het;T>C	3007;125|127	Hom;T>C	7511;0|264
N	N	-	2	241496770	241496770	C	A	snp	splicing	 	 	 	 	ANKMY1	Ankmy1	ENSG00000144504	ankyrin repeat and MYND domain containing 1	chr2:241418839-241508626		Platelet Count; Alzheimer's disease ; Tobacco Use Disorder	 				GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANKMY1	https://www.uniprot.org/uniprot/Q9P2S6			http://www.informatics.jax.org/searchtool/Search.do?query=ANKMY1&submit=Quick%0D%8616ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKMY1	rs62621191	0.077476	0.1252	0.1221	0.50	2	4	splicing	splicing	splicing	ANKMY1	ANKMY1	ENSG00000144504(ENST00000403283:exon2:c.221-1G>T)	Na	Na	Na	Na	Na	Na	Het;C>A	1688;90|74	Het;C>A	1238;70|59	Hom;C>A	3051;1|116
N	N	-	2	242610773	242610773	T	A	snp	nonsynonymous SNV	T839A	L280Q	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ATG4B	Atg4b	ENSG00000168397	autophagy related 4B cysteine peptidase	chr2:242576628-242613272	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning.	Macroautophagy	GO:0000045;autophagosome assembly;IGI|GO:0000422;mitophagy;IBA|GO:0006501;C-terminal protein lipidation;IBA|GO:0006508;proteolysis;IDA|GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006914;autophagy;IDA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0044804;nucleophagy;IBA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0051697;protein delipidation;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004175;endopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IDA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATG4B			https://www.ncbi.nlm.nih.gov/omim/?term=611338	http://www.informatics.jax.org/searchtool/Search.do?query=ATG4B&submit=Quick%0D%12260ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG4B	rs7601000	0.879393	0.8346	0.8153	0.08	1	13	exonic	exonic	exonic	ATG4B	ATG4B	ENSG00000168397	nonsynonymous SNV	nonsynonymous SNV	unknown	ATG4B:NM_013325:exon12:c.T1061A:p.L354Q,ATG4B:NM_178326:exon12:c.T1061A:p.L354Q,	ATG4B:uc010zoz.2:exon9:c.T839A:p.L280Q,ATG4B:uc002wbu.3:exon13:c.T839A:p.L280Q,ATG4B:uc002wbw.3:exon12:c.T1061A:p.L354Q,ATG4B:uc010zoy.2:exon13:c.T839A:p.L280Q,ATG4B:uc002wbv.3:exon12:c.T1061A:p.L354Q,ATG4B:uc010fzp.3:exon12:c.T1061A:p.L354Q,ATG4B:uc010zox.2:exon13:c.T1019A:p.L340Q,	UNKNOWN	Het;T>A	2653;112|119	Het;T>A	2330;106|106	Hom;T>A	5568;0|207
N	N	-	2	24387178	24387178	G	GC	indel	frameshift substitution	494_494delinsGC	 	 	 	FAM228B	Fam228b	ENSG00000219626	family with sequence similarity 228 member B	chr2:24299396-24392509			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM228B				http://www.informatics.jax.org/searchtool/Search.do?query=FAM228B&submit=Quick%0D%18390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM228B	rs113322110	0.962061	0.9694	0.9666	1	0	0	exonic	exonic;splicing	exonic;splicing	FAM228B	FAM228B;FAM228B(uc010ykl.2:exon9:c.903+2G>GC,uc010ykl.2:exon10:c.904-1G>GC)	ENSG00000219626,ENSG00000266118;ENSG00000219626(ENST00000420135:exon9:c.903+2G>GC,ENST00000420135:exon10:c.904-1G>GC)	unknown	frameshift substitution	unknown	UNKNOWN	FAM228B:uc002rew.3:exon9:c.494_494delinsGC,	UNKNOWN	Het;+C	2044;62|66	Het;+C	1772;84|59	Hom;+C	4228;0|115
N	N	-	2	24390517	24390517	G	A	snp	nonsynonymous SNV	G542A	G181D	aliphatic,neutral	polar,hydrophilic,charged(-)	FAM228B	Fam228b	ENSG00000219626	family with sequence similarity 228 member B	chr2:24299396-24392509			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM228B				http://www.informatics.jax.org/searchtool/Search.do?query=FAM228B&submit=Quick%0D%18390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM228B	rs2288072	0.586661	0.5510	0.6149	1	0	0	exonic	exonic	exonic	FAM228B	FAM228B	ENSG00000219626	unknown	nonsynonymous SNV	unknown	UNKNOWN	FAM228B:uc002rew.3:exon10:c.G542A:p.G181D,	UNKNOWN	Het;G>A	790;30|40	Het;G>A	366;54|25	Hom;G>A	2417;0|94
N	N	-	2	47601106	47601106	T	C	snp	nonsynonymous SNV	T344C	M115T	hydrophobic,neutral	polar,hydrophilic,neutral	EPCAM	Epcam	ENSG00000119888	epithelial cell adhesion molecule	chr2:47572297-47614740	This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]	ovarian cancer	Homozygous null mice display embryonic lethality during organogenesis with decreased embryo size, impaired labyrinth layer development and decreased number of trophoblast giant cells. Mice homozygous for another knock-out allele exhibit impaired intestinal tight junctions with lethality.	Cell surface interactions at the vascular wall	GO:0001657;ureteric bud development;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0023019;signal transduction involved in regulation of gene expression;IMP|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048863;stem cell differentiation;IMP|GO:0050900;leukocyte migration;TAS|GO:0098742;cell-cell adhesion via plasma-membrane adhesion molecules;IEA|GO:2000048;negative regulation of cell-cell adhesion mediated by cadherin;IDA|GO:2000147;positive regulation of cell motility;IEA|GO:2000648;positive regulation of stem cell proliferation;IMP	GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0005923;bicellular tight junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IDA|GO:0016328;lateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IDA|GO:0098641;cadherin binding involved in cell-cell adhesion;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPCAM	https://www.uniprot.org/uniprot/P16422	https://hpo.jax.org/app/browse/search?q=EPCAM&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=185535	http://www.informatics.jax.org/searchtool/Search.do?query=EPCAM&submit=Quick%0D%5129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPCAM	rs1126497	0.666134	0.5667	0.5198	0.15	2	13	exonic	exonic	exonic	EPCAM	EPCAM	ENSG00000119888	nonsynonymous SNV	nonsynonymous SNV	unknown	EPCAM:NM_002354:exon3:c.T344C:p.M115T,	EPCAM:uc002rvx.3:exon3:c.T344C:p.M115T,	UNKNOWN	Het;T>C	1362;64|61	Het;T>C	1097;56|57	Hom;T>C	4352;2|169
N	N	-	2	54562012	54562012	C	A	snp	nonsynonymous SNV	C85A	H29N	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	C2orf73	4930505A04Rik	ENSG00000177994	chromosome 2 open reading frame 73	chr2:54557171-54610879			 					http://www.genecards.org/index.php?path=/Search/keyword/C2orf73				http://www.informatics.jax.org/searchtool/Search.do?query=C2orf73&submit=Quick%0D%14118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf73	rs55714450	0.203874	0.2916	0.3304	0.08	1	13	exonic	exonic	exonic	C2orf73	C2orf73	ENSG00000177994	nonsynonymous SNV	nonsynonymous SNV	unknown	C2orf73:NM_001100396:exon2:c.C85A:p.H29N,	C2orf73:uc002rxt.1:exon2:c.C85A:p.H29N,	UNKNOWN	Het;C>A	663;32|33	Het;C>A	817;33|38	Hom;C>A	1805;0|66
N	N	-	2	56411817	56411817	C	T	snp	nonsynonymous SNV	C58T	P20S	hydrophobic,neutral	polar,hydrophilic,neutral	CCDC85A	Ccdc85a	ENSG00000055813	coiled-coil domain containing 85A	chr2:56411258-56613308		Tobacco Use Disorder; Blood Pressure Determination; Erythrocyte Indices; Menarche; Hematocrit; Schizophrenia; Breath Tests; Obesity; Erythrocytes; Coronary Disease	 					http://www.genecards.org/index.php?path=/Search/keyword/CCDC85A	https://www.uniprot.org/uniprot/Q96PX6			http://www.informatics.jax.org/searchtool/Search.do?query=CCDC85A&submit=Quick%0D%1000ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC85A	rs35587531	0.713658	0	0.7864	0.08	1	12	exonic	exonic	exonic	CCDC85A	CCDC85A	ENSG00000055813	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC85A:NM_001080433:exon1:c.C58T:p.P20S,	CCDC85A:uc002rzn.3:exon1:c.C58T:p.P20S,	UNKNOWN	Het;C>T	426;13|17	Het;C>T	303;9|12	Hom;C>T	681;0|25
N	N	-	2	64124722	64124722	C	A	snp	nonsynonymous SNV	G2700T	M900I	hydrophobic,neutral	aliphatic,hydrophobic,neutral	VPS54	Vps54	ENSG00000143952	VPS54, GARP complex subunit	chr2:64119280-64246206	This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008]	Amyotrophic Lateral Sclerosis|; Tobacco Use Disorder	Homozygous mutants show progressive ataxia, tremors, and limb paralysis with degeneration of motor nerve cells of brainstem and spinal cord and atrophy of skeletal muscle beginning about 3-weeks of age. Mutants are sterile and most die by 3-months of age.	Retrograde transport at the Trans-Golgi-Network	GO:0006810;transport;IEA|GO:0006896;Golgi to vacuole transport;IBA|GO:0007041;lysosomal transport;IMP|GO:0015031;protein transport;IEA|GO:0040007;growth;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050881;musculoskeletal movement;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA	GO:0000938;GARP complex;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/VPS54	https://www.uniprot.org/uniprot/Q9P1Q0		https://www.ncbi.nlm.nih.gov/omim/?term=614633	http://www.informatics.jax.org/searchtool/Search.do?query=VPS54&submit=Quick%0D%8542ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS54	rs11558741	0.137979	0.1458	0.1606	0.31	4	13	exonic	exonic	exonic	VPS54	VPS54	ENSG00000143952	nonsynonymous SNV	nonsynonymous SNV	unknown	VPS54:NM_016516:exon22:c.G2736T:p.M912I,VPS54:NM_001005739:exon22:c.G2700T:p.M900I,	VPS54:uc002scp.3:exon22:c.G2700T:p.M900I,VPS54:uc002scq.3:exon22:c.G2736T:p.M912I,VPS54:uc010fct.3:exon19:c.G2277T:p.M759I,VPS54:uc002scn.3:exon9:c.G222T:p.M74I,VPS54:uc002sco.3:exon11:c.G1191T:p.M397I,	UNKNOWN	Het;C>A	43;16|5	Het;C>A	233;20|12	Hom;C>A	1093;0|41
N	N	-	2	74682512	74682512	C	T	snp	nonsynonymous SNV	C92T	S31L	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	INO80B	Ino80b	ENSG00000115274	INO80 complex subunit B	chr2:74682150-74688011	This gene encodes a subunit of an ATP-dependent chromatin remodeling complex, INO80, which plays a role in DNA and nucleosome-activated ATPase activity and ATP-dependent nucleosome sliding. Readthrough transcription of this gene into the neighboring downstream gene, which encodes WW domain-binding protein 1, generates a non-coding transcript. [provided by RefSeq, Feb 2011]		 	DNA Damage Recognition in GG-NER	GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016579;protein deubiquitination;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0031011;Ino80 complex;IDA	GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/INO80B	https://www.uniprot.org/uniprot/Q9C086		https://www.ncbi.nlm.nih.gov/omim/?term=616456	http://www.informatics.jax.org/searchtool/Search.do?query=INO80B&submit=Quick%0D%4573ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INO80B	rs2268417	0.538538	0.3538	0.2809	1	0	0	ncRNA_intronic	exonic	intronic	INO80B-WBP1	INO80B	ENSG00000115274	Na	nonsynonymous SNV	Na	Na	INO80B:uc010yrs.2:exon1:c.C92T:p.S31L,	Na	Het;C>T	546;17|24	Ref		Hom;C>T	1007;0|36
N	N	-	2	74690039	74690039	G	A	snp	nonsynonymous SNV	C520T	P174S	hydrophobic,neutral	polar,hydrophilic,neutral	MOGS	Mogs	ENSG00000115275	mannosyl-oligosaccharide glucosidase	chr2:74688184-74692537	This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]	Congenital Disorders of Glycosylation	 	N-glycan trimming in the ER and Calnexin/Calreticulin cycle	GO:0006457;protein folding;TAS|GO:0006487;protein N-linked glycosylation;TAS|GO:0008152;metabolic process;IEA|GO:0009311;oligosaccharide metabolic process;IEA	GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004573;mannosyl-oligosaccharide glucosidase activity;TAS|GO:0015926;glucosidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MOGS	https://www.uniprot.org/uniprot/Q13724	https://hpo.jax.org/app/browse/search?q=MOGS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601336	http://www.informatics.jax.org/searchtool/Search.do?query=MOGS&submit=Quick%0D%4574ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MOGS	rs2268416	0.538738	0.3337	0.2792	0.08	1	13	exonic	exonic	exonic	MOGS	MOGS	ENSG00000115275	nonsynonymous SNV	nonsynonymous SNV	unknown	MOGS:NM_001146158:exon5:c.C559T:p.P187S,MOGS:NM_006302:exon4:c.C877T:p.P293S,	MOGS:uc010yrt.2:exon3:c.C520T:p.P174S,MOGS:uc010ffj.3:exon4:c.C877T:p.P293S,MOGS:uc010ffh.3:exon2:c.C52T:p.P18S,MOGS:uc010ffi.3:exon5:c.C559T:p.P187S,	UNKNOWN	Het;G>A	2807;145|125	Ref		Hom;G>A	7006;3|257
N	N	-	2	74690378	74690378	C	T	snp	nonsynonymous SNV	G358A	D120N	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	MOGS	Mogs	ENSG00000115275	mannosyl-oligosaccharide glucosidase	chr2:74688184-74692537	This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]	Congenital Disorders of Glycosylation	 	N-glycan trimming in the ER and Calnexin/Calreticulin cycle	GO:0006457;protein folding;TAS|GO:0006487;protein N-linked glycosylation;TAS|GO:0008152;metabolic process;IEA|GO:0009311;oligosaccharide metabolic process;IEA	GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004573;mannosyl-oligosaccharide glucosidase activity;TAS|GO:0015926;glucosidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MOGS	https://www.uniprot.org/uniprot/Q13724	https://hpo.jax.org/app/browse/search?q=MOGS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601336	http://www.informatics.jax.org/searchtool/Search.do?query=MOGS&submit=Quick%0D%4574ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MOGS	rs1063588	0.51877	0.3090	0.2669	0.46	6	13	exonic	exonic	exonic	MOGS	MOGS	ENSG00000115275	nonsynonymous SNV	nonsynonymous SNV	unknown	MOGS:NM_001146158:exon4:c.G397A:p.D133N,MOGS:NM_006302:exon3:c.G715A:p.D239N,	MOGS:uc010yrt.2:exon2:c.G358A:p.D120N,MOGS:uc010ffj.3:exon3:c.G715A:p.D239N,MOGS:uc010ffi.3:exon4:c.G397A:p.D133N,	UNKNOWN	Het;C>T	274;26|16	Ref		Hom;C>T	827;0|30
N	N	-	2	74699778	74699778	C	A	snp	nonsynonymous SNV	G10T	A4S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	MRPL53	Mrpl53	ENSG00000204822	mitochondrial ribosomal protein L53	chr2:74699085-74700449	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 1p. [provided by RefSeq, Jul 2008]		 	Mitochondrial translation termination	GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MRPL53			https://www.ncbi.nlm.nih.gov/omim/?term=611857	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL53&submit=Quick%0D%17400ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL53	rs1047911	0.516773	0.3306	0.2680	0.08	1	13	exonic	exonic	exonic	MRPL53	MRPL53	ENSG00000204822	nonsynonymous SNV	nonsynonymous SNV	unknown	MRPL53:NM_053050:exon1:c.G10T:p.A4S,	MRPL53:uc002sln.3:exon1:c.G10T:p.A4S,	UNKNOWN	Het;C>A	1766;75|72	Ref		Hom;C>A	4127;4|151
N	N	-	2	74710491	74710491	C	T	snp	nonsynonymous SNV	C83T	A28V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TTC31	 	ENSG00000115282	tetratricopeptide repeat domain 31	chr2:74710200-74722013			 					http://www.genecards.org/index.php?path=/Search/keyword/TTC31	https://www.uniprot.org/uniprot/Q49AM3			http://www.informatics.jax.org/searchtool/Search.do?query=TTC31&submit=Quick%0D%4575ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC31	rs6707475	0.547324	0.3419	0.2797	0.08	1	13	exonic	exonic	exonic	TTC31	TTC31	ENSG00000115282	nonsynonymous SNV	nonsynonymous SNV	unknown	TTC31:NM_022492:exon2:c.C83T:p.A28V,	TTC31:uc002slt.2:exon2:c.C83T:p.A28V,	UNKNOWN	Het;C>T	1069;66|52	Ref		Hom;C>T	2272;0|87
N	N	-	2	74725178	74725178	G	A	snp	nonsynonymous SNV	C473T	S158F	polar,hydrophilic,neutral	aromatic,hydrophobic,neutral	LBX2	Lbx2	ENSG00000179528	ladybird homeobox 2	chr2:74724644-74730443			Mice homozygous for a knock-out allele are viable, fertile and healthy with no gross developmental defects.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LBX2			https://www.ncbi.nlm.nih.gov/omim/?term=607164	http://www.informatics.jax.org/searchtool/Search.do?query=LBX2&submit=Quick%0D%14350ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LBX2	rs17009998	0.333067	0.1385	0.2155	0.23	3	13	exonic	exonic	exonic	LBX2	LBX2	ENSG00000179528	nonsynonymous SNV	nonsynonymous SNV	unknown	LBX2:NM_001009812:exon2:c.C461T:p.S154F,LBX2:NM_001282430:exon2:c.C473T:p.S158F,	LBX2:uc002slv.4:exon2:c.C473T:p.S158F,LBX2:uc002slw.3:exon2:c.C461T:p.S154F,	UNKNOWN	Het;G>A	962;71|47	Ref		Hom;G>A	3409;0|123
N	N	-	2	74756111	74756111	G	GA	indel	frameshift substitution	18_18delinsTC	 	 	 	AUP1	Aup1	ENSG00000115307	ancient ubiquitous protein 1	chr2:74753772-74757066	The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]		 		GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0030970;retrograde protein transport, ER to cytosol;IMP|GO:0050790;regulation of catalytic activity;IEA	GO:0000839;Hrd1p ubiquitin ligase ERAD-L complex;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IBA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA|GO:0097027;ubiquitin-protein transferase activator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/AUP1	https://www.uniprot.org/uniprot/Q9Y679		https://www.ncbi.nlm.nih.gov/omim/?term=602434	http://www.informatics.jax.org/searchtool/Search.do?query=AUP1&submit=Quick%0D%4582ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AUP1	rs3835033	0.485423	0.2792	0.3108	1	0	0	intronic	exonic	intronic	AUP1	AUP1	ENSG00000115307	Na	frameshift substitution	Na	Na	AUP1:uc021vjm.1:exon3:c.18_18delinsTC,AUP1:uc002smh.3:exon3:c.18_18delinsTC,	Na	Het;+A	1201;69|69	Ref		Hom;+A	2342;8|101
N	N	-	2	74756176	74756176	G	C	snp	nonsynonymous SNV	C422G	P141R	hydrophobic,neutral	polar,hydrophilic,charged(+)	AUP1	Aup1	ENSG00000115307	ancient ubiquitous protein 1	chr2:74753772-74757066	The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]		 		GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0030970;retrograde protein transport, ER to cytosol;IMP|GO:0050790;regulation of catalytic activity;IEA	GO:0000839;Hrd1p ubiquitin ligase ERAD-L complex;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IBA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA|GO:0097027;ubiquitin-protein transferase activator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/AUP1	https://www.uniprot.org/uniprot/Q9Y679		https://www.ncbi.nlm.nih.gov/omim/?term=602434	http://www.informatics.jax.org/searchtool/Search.do?query=AUP1&submit=Quick%0D%4582ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AUP1	rs2231250	0.5	0	0.2783	1	0	0	intronic	exonic	intronic	AUP1	AUP1	ENSG00000115307	Na	nonsynonymous SNV	Na	Na	AUP1:uc010yry.2:exon3:c.C422G:p.P141R,	Na	Het;G>C	3045;157|131	Ref		Hom;G>C	5382;0|192
N	N	-	2	84756049	84756049	G	A	snp	nonsynonymous SNV	G421A	V141M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	DNAH6	Dnah6	ENSG00000115423	dynein axonemal heavy chain 6	chr2:84743579-85046713	This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016]	Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival	 		GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH6	https://www.uniprot.org/uniprot/Q9C0G6		https://www.ncbi.nlm.nih.gov/omim/?term=603336	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6	rs4832089	0.944688	0.9236	0.9488	0.08	1	12	exonic	exonic	exonic	DNAH6	DNAH6	ENSG00000115423	nonsynonymous SNV	nonsynonymous SNV	unknown	DNAH6:NM_001370:exon4:c.G421A:p.V141M,	DNAH6:uc010fgb.3:exon4:c.G421A:p.V141M,	UNKNOWN	Het;G>A	517;19|24	Het;G>A	442;30|20	Hom;G>A	964;0|36
N	N	-	2	85780536	85780536	C	T	snp	nonsynonymous SNV	G491A	R164Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	GGCX	Ggcx	ENSG00000115486	gamma-glutamyl carboxylase	chr2:85771846-85788670	This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]	Venous Thrombosis; Apoplexy|Atherosclerosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; warfarin sensitivity; bone density; warfarin therapy, response to; null; acenocoumarol and phenprocoumon; Prostatic Neoplasms; Thrombosis; protein C protein S; warfarin response	Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification.	Gamma-carboxylation of protein precursors	GO:0006464;cellular protein modification process;TAS|GO:0007596;blood coagulation;TAS|GO:0017187;peptidyl-glutamic acid carboxylation;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS	GO:0008488;gamma-glutamyl carboxylase activity;TAS|GO:0016829;lyase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GGCX	https://www.uniprot.org/uniprot/P38435	https://hpo.jax.org/app/browse/search?q=GGCX&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=137167	http://www.informatics.jax.org/searchtool/Search.do?query=GGCX&submit=Quick%0D%4612ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GGCX	rs699664	0.377796	0.4192	0.3198	0.15	2	13	exonic	exonic	exonic	GGCX	GGCX	ENSG00000115486	nonsynonymous SNV	nonsynonymous SNV	unknown	GGCX:NM_000821:exon8:c.G974A:p.R325Q,GGCX:NM_001142269:exon7:c.G803A:p.R268Q,	GGCX:uc010yss.2:exon5:c.G491A:p.R164Q,GGCX:uc002sps.3:exon8:c.G974A:p.R325Q,GGCX:uc010yst.2:exon7:c.G803A:p.R268Q,	UNKNOWN	Het;C>T	1074;38|47	Ref		Hom;C>T	2875;6|109
N	N	-	3	112063850	112063850	C	A	snp	nonsynonymous SNV	C136A	P46T	hydrophobic,neutral	polar,hydrophilic,neutral	CD200	Cd200	ENSG00000091972	CD200 molecule	chr3:112051194-112081659	This gene encodes a type I membrane glycoprotein containing two extracellular immunoglobulin domains, a transmembrane and a cytoplasmic domain. This gene is expressed by various cell types, including B cells, a subset of T cells, thymocytes, endothelial cells, and neurons. The encoded protein plays an important role in immunosuppression and regulation of anti-tumor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]	Arteries; Cholesterol; Myocardial Infarction; Atrial Fibrillation; Tobacco Use Disorder; Cholesterol, LDL	Mice homozygous for disruptions in this gene have increased levels of all macrophage lineages.  Macrophage are activated and mice display an increased susceptibility to autoimmune disease.	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IBA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IBA|GO:0008037;cell recognition;IBA|GO:0043031;negative regulation of macrophage activation;IEA|GO:0050776;regulation of immune response;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004872;receptor activity;IBA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IBA|GO:0050839;cell adhesion molecule binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CD200	https://www.uniprot.org/uniprot/P41217		https://www.ncbi.nlm.nih.gov/omim/?term=155970	http://www.informatics.jax.org/searchtool/Search.do?query=CD200&submit=Quick%0D%2168ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CD200	rs2272022	0.202476	0.2896	0.2841	0.23	3	13	exonic	exonic	exonic	CD200	CD200	ENSG00000091972	nonsynonymous SNV	nonsynonymous SNV	unknown	CD200:NM_001004196:exon4:c.C211A:p.P71T,CD200:NM_005944:exon3:c.C136A:p.P46T,	CD200:uc003dyx.3:exon3:c.C136A:p.P46T,CD200:uc003dyw.3:exon4:c.C211A:p.P71T,	UNKNOWN	Het;C>A	632;27|26	Het;C>A	538;36|29	Hom;C>A	2200;0|78
N	N	-	3	113955164	113955164	T	G	snp	nonsynonymous SNV	A758C	D253A	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	ZNF80		ENSG00000174255	zinc finger protein 80	chr3:113953483-113956425					GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF80			https://www.ncbi.nlm.nih.gov/omim/?term=194553	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF80&submit=Quick%0D%13497ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF80	rs3732782	0.694089	0.6966	0.6567	0.08	1	12	exonic	exonic	exonic	ZNF80	ZNF80	ENSG00000174255	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF80:NM_007136:exon1:c.A758C:p.D253A,	ZNF80:uc010hqo.3:exon1:c.A758C:p.D253A,	UNKNOWN	Het;T>G	953;56|44	Het;T>G	520;45|29	Hom;T>G	1742;0|64
N	N	-	3	113955320	113955320	C	T	snp	nonsynonymous SNV	G602A	R201H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	ZNF80		ENSG00000174255	zinc finger protein 80	chr3:113953483-113956425					GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF80			https://www.ncbi.nlm.nih.gov/omim/?term=194553	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF80&submit=Quick%0D%13497ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF80	rs6438191	0.692692	0.6968	0.6566	0.08	1	12	exonic	exonic	exonic	ZNF80	ZNF80	ENSG00000174255	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF80:NM_007136:exon1:c.G602A:p.R201H,	ZNF80:uc010hqo.3:exon1:c.G602A:p.R201H,	UNKNOWN	Het;C>T	635;29|29	Het;C>T	344;24|18	Hom;C>T	1407;0|53
N	N	-	3	118867047	118867047	C	G	snp	nonsynonymous SNV	C1419G	D473E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	C3orf30	4930435E12Rik	ENSG00000163424	chromosome 3 open reading frame 30	chr3:118864997-118878889			 					http://www.genecards.org/index.php?path=/Search/keyword/C3orf30				http://www.informatics.jax.org/searchtool/Search.do?query=C3orf30&submit=Quick%0D%10960ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf30	rs9289122	0.469649	0.4748	0.4720	0.08	1	13	exonic	exonic	exonic	C3orf30	C3orf30	ENSG00000163424	nonsynonymous SNV	nonsynonymous SNV	unknown	C3orf30:NM_152539:exon2:c.C1419G:p.D473E,	C3orf30:uc003ecb.1:exon2:c.C1419G:p.D473E,C3orf30:uc011biw.1:exon2:c.C1419G:p.D473E,	UNKNOWN	Het;C>G	850;45|38	Het;C>G	1105;76|51	Hom;C>G	3292;1|110
N	N	-	3	122354792	122354792	G	A	snp	nonsynonymous SNV	G1180A	G394R	aliphatic,neutral	polar,hydrophilic,charged(+)	PARP15	 	ENSG00000173200	poly(ADP-ribose) polymerase family member 15	chr3:122296449-122357894	PARP15 is a macrodomain-containing transcriptional repressor with poly(ADP-ribose) polymerase activity (Aguiar et al., 2005 [PubMed 16061477]).[supplied by OMIM, May 2008]	Diabetes Mellitus; Depressive Disorder, Major; Type 2 Diabetes| edema | rosiglitazone; Heart Rate	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003950;NAD+ ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PARP15			https://www.ncbi.nlm.nih.gov/omim/?term=612066	http://www.informatics.jax.org/searchtool/Search.do?query=PARP15&submit=Quick%0D%13307ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PARP15	rs12489170	0.221645	0.1268	0.1805	0.75	9	12	exonic	exonic	exonic	PARP15	PARP15	ENSG00000173200	nonsynonymous SNV	nonsynonymous SNV	unknown	PARP15:NM_001113523:exon12:c.G1882A:p.G628R,PARP15:NM_152615:exon8:c.G1180A:p.G394R,	PARP15:uc003efp.1:exon8:c.G1180A:p.G394R,PARP15:uc003efo.1:exon14:c.G1123A:p.G375R,PARP15:uc003efm.2:exon12:c.G1882A:p.G628R,PARP15:uc003efn.2:exon9:c.G1297A:p.G433R,PARP15:uc011bjt.1:exon7:c.G973A:p.G325R,	UNKNOWN	Het;G>A	752;56|38	Het;G>A	1046;40|47	Hom;G>A	2366;0|84
N	N	-	3	122632436	122632436	A	G	snp	nonsynonymous SNV	T2051C	M684T	hydrophobic,neutral	polar,hydrophilic,neutral	SEMA5B	Sema5b	ENSG00000082684	semaphorin 5B	chr3:122628041-122747452	This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Esophageal Neoplasms	Mice homozygous for a null mutation display defects in neurite arborization of multiple retinal cell types.	O-glycosylation of TSR domain-containing proteins	GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA|GO:0048675;axon extension;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0097485;neuron projection guidance;IEA|GO:1990138;neuron projection extension;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEMA5B	https://www.uniprot.org/uniprot/Q9P283		https://www.ncbi.nlm.nih.gov/omim/?term=609298	http://www.informatics.jax.org/searchtool/Search.do?query=SEMA5B&submit=Quick%0D%1810ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA5B	rs2276781	0.061901	0.0482	0.0596	0.15	2	13	exonic	exonic	exonic	SEMA5B	SEMA5B	ENSG00000082684	nonsynonymous SNV	nonsynonymous SNV	unknown	SEMA5B:NM_001031702:exon16:c.T2225C:p.M742T,SEMA5B:NM_001256346:exon16:c.T2225C:p.M742T,SEMA5B:NM_001256347:exon16:c.T2387C:p.M796T,SEMA5B:NM_001256348:exon15:c.T2051C:p.M684T,	SEMA5B:uc011bju.2:exon15:c.T2051C:p.M684T,SEMA5B:uc031sbm.1:exon16:c.T2387C:p.M796T,SEMA5B:uc010hro.2:exon15:c.T2051C:p.M684T,SEMA5B:uc003egb.2:exon16:c.T2225C:p.M742T,SEMA5B:uc003efz.2:exon16:c.T2225C:p.M742T,	UNKNOWN	Het;A>G	1359;73|65	Het;A>G	1182;59|54	Hom;A>G	3117;0|118
N	N	-	3	175345143	175345143	C	G	snp	nonsynonymous SNV	C1142G	P381R	hydrophobic,neutral	polar,hydrophilic,charged(+)	NAALADL2	Naaladl2	ENSG00000177694	N-acetylated alpha-linked acidic dipeptidase like 2	chr3:174156363-175523428		Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2			https://www.ncbi.nlm.nih.gov/omim/?term=608806	http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2	rs9866564	0.758187	0.7249	0.7941	0.69	9	13	exonic	exonic	exonic	NAALADL2	NAALADL2	ENSG00000177694	nonsynonymous SNV	nonsynonymous SNV	unknown	NAALADL2:NM_207015:exon11:c.C1865G:p.P622R,	NAALADL2:uc010hwy.2:exon10:c.C1142G:p.P381R,NAALADL2:uc003fit.3:exon11:c.C1865G:p.P622R,	UNKNOWN	Het;C>G	178;11|9	Het;C>G	506;33|25	Hom;C>G	2031;0|78
N	N	-	3	182853670	182853670	T	C	snp	nonsynonymous SNV	A952G	I318V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	LAMP3	Lamp3	ENSG00000078081	lysosomal associated membrane protein 3	chr3:182840001-182881627	Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010]	Type 2 Diabetes| edema | rosiglitazone; bipolar disorder; Bipolar Disorder; Parkinson's disease	 		GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0010506;regulation of autophagy;IMP|GO:0010628;positive regulation of gene expression;IMP|GO:0035455;response to interferon-alpha;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:1901799;negative regulation of proteasomal protein catabolic process;IMP|GO:1903900;regulation of viral life cycle;IMP	GO:0005634;nucleus;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0005769;early endosome;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0097233;alveolar lamellar body membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LAMP3	https://www.uniprot.org/uniprot/Q9UQV4		https://www.ncbi.nlm.nih.gov/omim/?term=605883	http://www.informatics.jax.org/searchtool/Search.do?query=LAMP3&submit=Quick%0D%1646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMP3	rs482912	0.496406	0.5915	0.6483	0.08	1	13	exonic	exonic	exonic	LAMP3	LAMP3	ENSG00000078081	nonsynonymous SNV	nonsynonymous SNV	unknown	LAMP3:NM_014398:exon5:c.A952G:p.I318V,	LAMP3:uc003flh.4:exon5:c.A952G:p.I318V,	UNKNOWN	Het;T>C	1489;81|65	Het;T>C	1690;69|70	Hom;T>C	3738;0|127
N	N	-	3	186443018	186443018	T	C	snp	nonsynonymous SNV	T533C	M178T	hydrophobic,neutral	polar,hydrophilic,neutral	KNG1	Kng2	ENSG00000113889	kininogen 1	chr3:186435065-186461743	This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin, a peptide causing numerous physiological effects, is released from HMWK. Bradykinin also functions as an antimicrobial peptide with antibacterial and antifungal activity. In contrast to HMWK, LMWK is not involved in blood coagulation. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2014]	nephropathy, diabetic; Hypertension; sudden cardiac arrest risk; several psychiatric disorders; Type 2 Diabetes| edema | rosiglitazone; null; Partial Thromboplastin Time; Adiponectin; Cardiovascular Diseases|Coronary Artery Disease; Cardiomyopathies; Tobacco Use Disorder; Blood Coagulation Disorders, Inherited|Thrombosis	Mice homozygous for a targeted null mutation are viable and grossly unaffected with normal tail vein bleeding times, despite loss of detectable plasma kininogen. However, homozygotes show a significantly longer time to carotid artery occlusion after RoseBengal and laser-induced arterial injury.	Post-translational protein phosphorylation	GO:0002576;platelet degranulation;TAS|GO:0006954;inflammatory response;IEA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007596;blood coagulation;IEA|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0007599;hemostasis;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030195;negative regulation of blood coagulation;IDA|GO:0042311;vasodilation;IEA|GO:0043065;positive regulation of apoptotic process;NAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045861;negative regulation of proteolysis;IDA|GO:0050880;regulation of blood vessel size;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0031093;platelet alpha granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004869;cysteine-type endopeptidase inhibitor activity;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;NAS|GO:0008270;zinc ion binding;NAS|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KNG1	https://www.uniprot.org/uniprot/P01042		https://www.ncbi.nlm.nih.gov/omim/?term=612358	http://www.informatics.jax.org/searchtool/Search.do?query=KNG1&submit=Quick%0D%4416ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KNG1	rs1656922	0.524161	0.5457	0.5373	0.08	1	13	exonic	exonic	exonic	KNG1	KNG1	ENSG00000113889	nonsynonymous SNV	nonsynonymous SNV	unknown	KNG1:NM_000893:exon4:c.T533C:p.M178T,KNG1:NM_001166451:exon4:c.T533C:p.M178T,KNG1:NM_001102416:exon4:c.T533C:p.M178T,	KNG1:uc021xil.1:exon4:c.T533C:p.M178T,KNG1:uc011bsa.2:exon4:c.T533C:p.M178T,KNG1:uc003fqr.3:exon4:c.T533C:p.M178T,	UNKNOWN	Het;T>C	820;36|40	Ref		Hom;T>C	2204;0|81
N	N	-	3	187088656	187088656	C	T	snp	nonsynonymous SNV	C236T	T79I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	RTP4	Rtp4	ENSG00000136514	receptor transporter protein 4	chr3:187086120-187089864		Echocardiography	 	Olfactory Signaling Pathway	GO:0001580;detection of chemical stimulus involved in sensory perception of bitter taste;IDA|GO:0006612;protein targeting to membrane;IDA|GO:0051205;protein insertion into membrane;IBA	GO:0005737;cytoplasm;IDA|GO:0009986;cell surface;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0031849;olfactory receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/RTP4	https://www.uniprot.org/uniprot/Q96DX8		https://www.ncbi.nlm.nih.gov/omim/?term=609350	http://www.informatics.jax.org/searchtool/Search.do?query=RTP4&submit=Quick%0D%7356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RTP4	rs1047584	0.179712	0.2216	0.2037	0.38	5	13	exonic	exonic	exonic	RTP4	RTP4	ENSG00000136514	nonsynonymous SNV	nonsynonymous SNV	unknown	RTP4:NM_022147:exon2:c.C236T:p.T79I,	RTP4:uc003frm.3:exon2:c.C236T:p.T79I,	UNKNOWN	Het;C>T	1367;60|62	Het;C>T	1251;67|59	Hom;C>T	2880;0|105
N	N	-	3	190999917	190999917	C	A	snp	nonsynonymous SNV	G62T	S21I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	UTS2B	Uts2b	ENSG00000188958	urotensin 2B	chr3:190984957-191048325		Myocardial Infarction; Alzheimer Disease	 	G alpha (q) signalling events	GO:0008217;regulation of blood pressure;IEA|GO:0097746;regulation of blood vessel diameter;IEA	GO:0005576;extracellular region;TAS	GO:0001664;G-protein coupled receptor binding;IEA|GO:0005179;hormone activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UTS2B				http://www.informatics.jax.org/searchtool/Search.do?query=UTS2B&submit=Quick%0D%16145ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UTS2B	rs6788319	0.471446	0.4927	0.5692	0.08	1	13	exonic	exonic	exonic	UTS2B	UTS2B	ENSG00000188958	nonsynonymous SNV	nonsynonymous SNV	unknown	UTS2B:NM_198152:exon5:c.G62T:p.S21I,	UTS2B:uc003fsu.3:exon5:c.G62T:p.S21I,	UNKNOWN	Het;C>A	916;31|43	Ref		Hom;C>A	1409;2|57
N	N	-	3	191093175	191093175	T	A	snp	nonsynonymous SNV	T773A	I258N	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	CCDC50	Ccdc50	ENSG00000152492	coiled-coil domain containing 50	chr3:191046866-191116459	This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]	Echocardiography	 		GO:0007605;sensory perception of sound;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC50	https://www.uniprot.org/uniprot/Q8IVM0	https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611051	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50	rs2028574	0.501597	0.4889	0.4284	0.08	1	12	exonic	exonic	exonic	CCDC50	CCDC50	ENSG00000152492	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC50:NM_178335:exon6:c.T773A:p.I258N,	CCDC50:uc003fsv.3:exon6:c.T773A:p.I258N,	UNKNOWN	Het;T>A	1260;53|52	Ref		Hom;T>A	2986;0|107
N	N	-	3	191093310	191093310	A	G	snp	nonsynonymous SNV	A908G	K303R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	CCDC50	Ccdc50	ENSG00000152492	coiled-coil domain containing 50	chr3:191046866-191116459	This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]	Echocardiography	 		GO:0007605;sensory perception of sound;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC50	https://www.uniprot.org/uniprot/Q8IVM0	https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611051	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50	rs4677728	0.502196	0.4884	0.4294	0.17	2	12	exonic	exonic	exonic	CCDC50	CCDC50	ENSG00000152492	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC50:NM_178335:exon6:c.A908G:p.K303R,	CCDC50:uc003fsv.3:exon6:c.A908G:p.K303R,	UNKNOWN	Het;A>G	1132;39|48	Ref		Hom;A>G	2547;0|92
N	N	-	3	191097966	191097966	T	C	snp	nonsynonymous SNV	T995C	M332T	hydrophobic,neutral	polar,hydrophilic,neutral	CCDC50	Ccdc50	ENSG00000152492	coiled-coil domain containing 50	chr3:191046866-191116459	This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]	Echocardiography	 		GO:0007605;sensory perception of sound;IMP	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC50	https://www.uniprot.org/uniprot/Q8IVM0	https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611051	http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50	rs293813	0.644569	0.5726	0.5372	0.08	1	13	exonic	exonic	exonic	CCDC50	CCDC50	ENSG00000152492	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC50:NM_178335:exon7:c.T995C:p.M332T,CCDC50:NM_174908:exon6:c.T467C:p.M156T,	CCDC50:uc003fsv.3:exon7:c.T995C:p.M332T,CCDC50:uc003fsw.3:exon6:c.T467C:p.M156T,	UNKNOWN	Het;T>C	1107;41|45	Het;T>C	1025;88|55	Hom;T>C	4554;0|164
N	N	-	3	191179193	191179193	A	G	snp	nonsynonymous SNV	A242G	Q81R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	PYDC2		ENSG00000253548	pyrin domain containing 2	chr3:191178952-191179245		Cholesterol; Heart Rate; Body Mass Index; Body Weight; Echocardiography; Stroke; Pancreatic Neoplasms; Benzodiazepines			GO:0002376;immune system process;IEA|GO:0006954;inflammatory response;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0010804;negative regulation of tumor necrosis factor-mediated signaling pathway;IMP|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0042347;negative regulation of NF-kappaB import into nucleus;IMP|GO:0045087;innate immune response;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IMP|GO:0050728;negative regulation of inflammatory response;IMP|GO:1900226;negative regulation of NLRP3 inflammasome complex assembly;IMP	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PYDC2			https://www.ncbi.nlm.nih.gov/omim/?term=615701	http://www.informatics.jax.org/searchtool/Search.do?query=PYDC2&submit=Quick%0D%20029ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYDC2	rs293833	0.629992	0.7544	0.6885	0.10	1	10	exonic	exonic	exonic	PYDC2	PYDC2	ENSG00000253548	nonsynonymous SNV	nonsynonymous SNV	unknown	PYDC2:NM_001083308:exon1:c.A242G:p.Q81R,	PYDC2:uc011bso.2:exon1:c.A242G:p.Q81R,	UNKNOWN	Het;A>G	1926;96|85	Het;A>G	2188;95|98	Hom;A>G	5147;1|184
N	N	-	3	193080414	193080414	C	G	snp	nonsynonymous SNV	G397C	E133Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	ATP13A5	Atp13a5	ENSG00000187527	ATPase 13A5	chr3:192992579-193096632		Triglycerides	Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing.	Ion transport by P-type ATPases	GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0034220;ion transmembrane transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA	GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0019829;cation-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATP13A5				http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A5&submit=Quick%0D%15834ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A5	rs6797429	0.513778	0.5511	0.5117	0.23	3	13	exonic	exonic	exonic	ATP13A5	ATP13A5	ENSG00000187527	nonsynonymous SNV	nonsynonymous SNV	unknown	ATP13A5:NM_198505:exon4:c.G397C:p.E133Q,	ATP13A5:uc011bsq.2:exon4:c.G397C:p.E133Q,	UNKNOWN	Het;C>G	948;91|47	Het;C>G	1049;74|52	Hom;C>G	2170;4|83
N	N	-	3	194061826	194061826	C	T	snp	nonsynonymous SNV	G1606A	V536M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	CPN2	Cpn2	ENSG00000178772	carboxypeptidase N subunit 2	chr3:194060494-194072057			 	Regulation of Complement cascade	GO:0030449;regulation of complement activation;TAS|GO:0050790;regulation of catalytic activity;IEA|GO:0050821;protein stabilization;NAS	GO:0005576;extracellular region;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004181;metallocarboxypeptidase activity;TAS|GO:0030234;enzyme regulator activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/CPN2			https://www.ncbi.nlm.nih.gov/omim/?term=603104	http://www.informatics.jax.org/searchtool/Search.do?query=CPN2&submit=Quick%0D%14229ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPN2	rs11711157	0.284545	0.2484	0.2944	0.38	5	13	exonic	exonic	exonic	CPN2	CPN2	ENSG00000178772	nonsynonymous SNV	nonsynonymous SNV	unknown	CPN2:NM_001080513:exon2:c.G1606A:p.V536M,CPN2:NM_001291988:exon2:c.G1606A:p.V536M,	CPN2:uc003fts.3:exon2:c.G1606A:p.V536M,CPN2:uc021xix.1:exon1:c.G1606A:p.V536M,	UNKNOWN	Het;C>T	1179;65|53	Ref		Hom;C>T	2578;0|98
N	N	-	3	194062519	194062519	C	T	snp	nonsynonymous SNV	G913A	A305T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	CPN2	Cpn2	ENSG00000178772	carboxypeptidase N subunit 2	chr3:194060494-194072057			 	Regulation of Complement cascade	GO:0030449;regulation of complement activation;TAS|GO:0050790;regulation of catalytic activity;IEA|GO:0050821;protein stabilization;NAS	GO:0005576;extracellular region;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004181;metallocarboxypeptidase activity;TAS|GO:0030234;enzyme regulator activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/CPN2			https://www.ncbi.nlm.nih.gov/omim/?term=603104	http://www.informatics.jax.org/searchtool/Search.do?query=CPN2&submit=Quick%0D%14229ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPN2	rs3732477	0.366414	0.3258	0.3145	0.15	2	13	exonic	exonic	exonic	CPN2	CPN2	ENSG00000178772	nonsynonymous SNV	nonsynonymous SNV	unknown	CPN2:NM_001080513:exon2:c.G913A:p.A305T,CPN2:NM_001291988:exon2:c.G913A:p.A305T,	CPN2:uc003fts.3:exon2:c.G913A:p.A305T,CPN2:uc021xix.1:exon1:c.G913A:p.A305T,	UNKNOWN	Het;C>T	1853;119|91	Ref		Hom;C>T	5498;2|204
N	N	-	3	195451880	195451880	A	G	snp	nonsynonymous SNV	A406G	R136G	polar,hydrophilic,charged(+)	aliphatic,neutral	MUC20	Muc20	ENSG00000281630	mucin 20, cell surface associated	chr3:195447753-195467994	This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]	nephropathy, IgA	 		GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA			http://www.genecards.org/index.php?path=/Search/keyword/MUC20			https://www.ncbi.nlm.nih.gov/omim/?term=610360	http://www.informatics.jax.org/searchtool/Search.do?query=MUC20&submit=Quick%0D%22322ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC20	rs142096782	0.755391	0	0.7885	0.08	1	13	exonic	exonic	exonic	MUC20	MUC20	ENSG00000176945	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC20:NM_001282506:exon2:c.A406G:p.R136G,MUC20:NM_001291833:exon2:c.A406G:p.R136G,MUC20:NM_152673:exon2:c.A406G:p.R136G,MUC20:NM_020790:exon2:c.A406G:p.R136G,	MUC20:uc010hzo.3:exon2:c.A406G:p.R136G,MUC20:uc010hzp.3:exon1:c.A301G:p.R101G,	UNKNOWN	Het;A>G	7254;101|182	Het;A>G	2179;226|69	Hom;A>G	8848;0|198
N	N	-	3	195451881	195451881	G	A	snp	nonsynonymous SNV	G407A	R136K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	MUC20	Muc20	ENSG00000281630	mucin 20, cell surface associated	chr3:195447753-195467994	This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]	nephropathy, IgA	 		GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA			http://www.genecards.org/index.php?path=/Search/keyword/MUC20			https://www.ncbi.nlm.nih.gov/omim/?term=610360	http://www.informatics.jax.org/searchtool/Search.do?query=MUC20&submit=Quick%0D%22322ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC20	rs2550230	0.780551	0	0.7958	0.08	1	13	exonic	exonic	exonic	MUC20	MUC20	ENSG00000176945	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC20:NM_001282506:exon2:c.G407A:p.R136K,MUC20:NM_001291833:exon2:c.G407A:p.R136K,MUC20:NM_152673:exon2:c.G407A:p.R136K,MUC20:NM_020790:exon2:c.G407A:p.R136K,	MUC20:uc010hzo.3:exon2:c.G407A:p.R136K,MUC20:uc010hzp.3:exon1:c.G302A:p.R101K,	UNKNOWN	Het;G>A	7254;101|181	Het;G>A	2179;226|69	Hom;G>A	8848;0|198
N	N	-	3	195452799	195452799	C	T	snp	nonsynonymous SNV	C812T	T271I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	MUC20	Muc20	ENSG00000281630	mucin 20, cell surface associated	chr3:195447753-195467994	This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]	nephropathy, IgA	 		GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA			http://www.genecards.org/index.php?path=/Search/keyword/MUC20			https://www.ncbi.nlm.nih.gov/omim/?term=610360	http://www.informatics.jax.org/searchtool/Search.do?query=MUC20&submit=Quick%0D%22322ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC20	rs2550232	0	0	0.4024	0.08	1	13	exonic	exonic	exonic	MUC20	MUC20	ENSG00000176945	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC20:NM_001282506:exon2:c.C1325T:p.T442I,MUC20:NM_001291833:exon4:c.C812T:p.T271I,MUC20:NM_152673:exon4:c.C812T:p.T271I,MUC20:NM_020790:exon4:c.C869T:p.T290I,	MUC20:uc010hzo.3:exon3:c.C812T:p.T271I,MUC20:uc010hzp.3:exon2:c.C707T:p.T236I,	UNKNOWN	Het;C>T	2255;173|76	Ref		Hom;C>T	5336;3|147
N	N	-	3	195452951	195452951	G	C	snp	nonsynonymous SNV	G964C	D322H	polar,hydrophilic,charged(-)	aromatic,polar,hydrophilic,charged(+)	MUC20	Muc20	ENSG00000281630	mucin 20, cell surface associated	chr3:195447753-195467994	This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]	nephropathy, IgA	 		GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA			http://www.genecards.org/index.php?path=/Search/keyword/MUC20			https://www.ncbi.nlm.nih.gov/omim/?term=610360	http://www.informatics.jax.org/searchtool/Search.do?query=MUC20&submit=Quick%0D%22322ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC20	rs2688542	0	0	0.6086	0.23	3	13	exonic	exonic	exonic	MUC20	MUC20	ENSG00000176945	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC20:NM_001282506:exon2:c.G1477C:p.D493H,MUC20:NM_001291833:exon4:c.G964C:p.D322H,MUC20:NM_152673:exon4:c.G964C:p.D322H,MUC20:NM_020790:exon4:c.G1021C:p.D341H,	MUC20:uc010hzo.3:exon3:c.G964C:p.D322H,MUC20:uc010hzp.3:exon2:c.G859C:p.D287H,	UNKNOWN	Het;G>C	3832;312|181	Ref		Hom;G>C	10676;3|377
N	N	-	3	195489009	195489009	C	A	snp	nonsynonymous SNV	G988T	A330S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2246901	0.63099	0.6416	0.6823	0.38	5	13	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC4:NM_004532:exon13:c.G1753T:p.A585S,MUC4:NM_138297:exon12:c.G1600T:p.A534S,MUC4:NM_018406:exon14:c.G14461T:p.A4821S,	MUC4:uc021xjm.1:exon13:c.G988T:p.A330S,MUC4:uc003fvb.3:exon12:c.G1009T:p.A337S,MUC4:uc021xjg.1:exon13:c.G901T:p.A301S,MUC4:uc021xjn.1:exon13:c.G1528T:p.A510S,MUC4:uc021xjj.1:exon14:c.G1153T:p.A385S,MUC4:uc021xjl.1:exon14:c.G901T:p.A301S,MUC4:uc003fuz.3:exon9:c.G1255T:p.A419S,MUC4:uc003fve.3:exon12:c.G1009T:p.A337S,MUC4:uc003fvp.3:exon12:c.G1600T:p.A534S,MUC4:uc003fva.3:exon13:c.G901T:p.A301S,MUC4:uc021xjk.1:exon14:c.G1684T:p.A562S,MUC4:uc021xji.1:exon14:c.G1153T:p.A385S,MUC4:uc021xjo.1:exon13:c.G901T:p.A301S,MUC4:uc003fvo.3:exon13:c.G1753T:p.A585S,MUC4:uc021xjp.1:exon14:c.G14461T:p.A4821S,	UNKNOWN	Het;C>A	472;22|26	Ref		Hom;C>A	1323;0|48
N	N	-	3	195495916	195495916	G	C	snp	nonsynonymous SNV	C33G	N11K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2550240	0.428714	0.3588	0.4455	0.38	5	13	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC4:NM_004532:exon6:c.C798G:p.N266K,MUC4:NM_138297:exon5:c.C645G:p.N215K,MUC4:NM_018406:exon7:c.C13506G:p.N4502K,	MUC4:uc021xjm.1:exon6:c.C33G:p.N11K,MUC4:uc003fvb.3:exon6:c.C143G:p.T48S,MUC4:uc021xjn.1:exon6:c.C573G:p.N191K,MUC4:uc021xjj.1:exon7:c.C198G:p.N66K,MUC4:uc003fuz.3:exon3:c.C389G:p.T130S,MUC4:uc003fve.3:exon6:c.C143G:p.T48S,MUC4:uc003fvp.3:exon5:c.C645G:p.N215K,MUC4:uc021xjk.1:exon7:c.C729G:p.N243K,MUC4:uc021xji.1:exon7:c.C198G:p.N66K,MUC4:uc003fvo.3:exon6:c.C798G:p.N266K,MUC4:uc021xjp.1:exon7:c.C13506G:p.N4502K,	UNKNOWN	Het;G>C	1118;67|47	Ref		Hom;G>C	2940;0|104
N	N	-	3	195497174	195497174	C	G	snp	nonsynonymous SNV	G3C	M1I	hydrophobic,neutral	aliphatic,hydrophobic,neutral	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2259102	0.828275	0.8714	0.7996	0.08	1	13	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC4:NM_004532:exon5:c.G603C:p.M201I,MUC4:NM_138297:exon4:c.G450C:p.M150I,MUC4:NM_018406:exon6:c.G13311C:p.M4437I,	MUC4:uc021xjj.1:exon6:c.G3C:p.M1I,MUC4:uc003fvp.3:exon4:c.G450C:p.M150I,MUC4:uc021xjk.1:exon6:c.G534C:p.M178I,MUC4:uc021xji.1:exon6:c.G3C:p.M1I,MUC4:uc003fvo.3:exon5:c.G603C:p.M201I,MUC4:uc021xjp.1:exon6:c.G13311C:p.M4437I,	UNKNOWN	Het;C>G	1297;42|55	Ref		Hom;C>G	2492;0|92
N	N	-	3	195501149	195501149	C	T	snp	nonsynonymous SNV	G194A	G65D	aliphatic,neutral	polar,hydrophilic,charged(-)	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2259292	0.586262	0.5823	0.5856	0.15	2	13	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC4:NM_004532:exon3:c.G263A:p.G88D,MUC4:NM_138297:exon2:c.G110A:p.G37D,MUC4:NM_018406:exon4:c.G12971A:p.G4324D,	MUC4:uc021xjn.1:exon4:c.G194A:p.G65D,MUC4:uc003fuz.3:exon1:c.G10A:p.A4T,MUC4:uc003fvp.3:exon2:c.G110A:p.G37D,MUC4:uc021xjk.1:exon4:c.G194A:p.G65D,MUC4:uc003fvo.3:exon3:c.G263A:p.G88D,MUC4:uc021xjp.1:exon4:c.G12971A:p.G4324D,	UNKNOWN	Het;C>T	1358;42|58	Ref		Hom;C>T	3278;0|126
N	N	-	3	195505664	195505664	G	A	snp	nonsynonymous SNV	C10T	P4S	hydrophobic,neutral	polar,hydrophilic,neutral	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2688513	0.789537	0.8743	0.8052	0.08	1	12	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC4:NM_018406:exon2:c.C12787T:p.P4263S,	MUC4:uc021xjn.1:exon2:c.C10T:p.P4S,MUC4:uc021xjk.1:exon2:c.C10T:p.P4S,MUC4:uc021xjp.1:exon2:c.C12787T:p.P4263S,	UNKNOWN	Het;G>A	1153;57|52	Ref		Hom;G>A	3275;0|124
N	N	-	3	195516878	195516878	T	C	snp	nonsynonymous SNV	A1573G	T525A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs2177336	0.772165	0.8235	0.7806	0.08	1	12	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC4:NM_018406:exon2:c.A1573G:p.T525A,	MUC4:uc021xjp.1:exon2:c.A1573G:p.T525A,MUC4:uc021xjq.1:exon1:c.A1219G:p.T407A,	UNKNOWN	Het;T>C	1907;125|79	Ref		Hom;T>C	3551;0|128
N	N	-	3	195517258	195517258	G	A	snp	nonsynonymous SNV	C1193T	T398I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs1106502	0.772364	0.8246	0.7807	0.09	1	11	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC4:NM_018406:exon2:c.C1193T:p.T398I,	MUC4:uc021xjp.1:exon2:c.C1193T:p.T398I,MUC4:uc021xjq.1:exon1:c.C839T:p.T280I,	UNKNOWN	Het;G>A	2026;116|89	Ref		Hom;G>A	3671;6|136
N	N	-	3	195517321	195517321	G	A	snp	nonsynonymous SNV	C1130T	T377I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs1104760	0.772165	0.8244	0.7805	0.09	1	11	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC4:NM_018406:exon2:c.C1130T:p.T377I,	MUC4:uc021xjp.1:exon2:c.C1130T:p.T377I,MUC4:uc021xjq.1:exon1:c.C776T:p.T259I,	UNKNOWN	Het;G>A	2618;128|123	Ref		Hom;G>A	4717;2|175
N	N	-	3	195517553	195517553	A	C	snp	nonsynonymous SNV	T898G	F300V	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs882605	0.773762	0.8261	0.7809	0.09	1	11	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC4:NM_018406:exon2:c.T898G:p.F300V,	MUC4:uc021xjp.1:exon2:c.T898G:p.F300V,MUC4:uc021xjq.1:exon1:c.T544G:p.F182V,	UNKNOWN	Het;A>C	2641;103|110	Ref		Hom;A>C	5757;0|194
N	N	-	3	195518112	195518112	T	TGTCTCCTGCGTAACA	indel	nonframeshift substitution	339_339delinsTGTTACGCAGGAGACA	 	 	 	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs142781032	0.728634	0.7477	0.7527	1	0	0	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	nonframeshift substitution	nonframeshift substitution	unknown	MUC4:NM_018406:exon2:c.339_339delinsTGTTACGCAGGAGACA,	MUC4:uc021xjp.1:exon2:c.339_339delinsTGTTACGCAGGAGACA,	UNKNOWN	Het;+GTCTCCTGCGTAACA	3431;99|85	Ref		Hom;+GTCTCCTGCGTAACA	7511;0|156
N	N	-	3	195518330	195518330	C	G	snp	nonsynonymous SNV	G121C	A41P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	MUC4	Muc4	ENSG00000278468	mucin 4, cell surface associated	chr3:195473636-195539148	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]	invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy	Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer.		GO:0007160;cell-matrix adhesion;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MUC4			https://www.ncbi.nlm.nih.gov/omim/?term=158372	http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4	rs3107764	0.504593	0.5141	0.5769	0.08	1	12	exonic	exonic	exonic	MUC4	MUC4	ENSG00000145113	nonsynonymous SNV	nonsynonymous SNV	unknown	MUC4:NM_018406:exon2:c.G121C:p.A41P,	MUC4:uc021xjp.1:exon2:c.G121C:p.A41P,	UNKNOWN	Het;C>G	783;61|31	Ref		Hom;C>G	2456;0|79
N	N	-	3	195800811	195800811	C	T	snp	nonsynonymous SNV	G181A	G61S	aliphatic,neutral	polar,hydrophilic,neutral	TFRC	Tfrc	ENSG00000072274	transferrin receptor	chr3:195754054-195809060	This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]	leukemia; hemochromatosis; iron metabolism; chronic obstructive pulmonary disease; hepatitis C; lung cancer; mean corpuscular volume; mean corpuscular hemoglobin; bladder cancer; cirrhosis; hepatocellular carcinoma; colorectal cancer; breast cancer; Abortion, Spontaneous; Iron Overload|Myeloproliferative Disorders; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Indices; porphyria cutanea tarda; Hemochromatosis|Leukemia; Hyperparathyroidism, Secondary; Type 2 diabetes; IgA nephropathy; lung cancer ; Birth Weight|Hemochromatosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Pregnancy Complications	Homozygous mutant embryos do not survive past E12.5, exhibiting anemia, hydrops fetalis, and neurological defects. Haploinsufficiency results in abnromal erythrocytes and tissue iron deficiency.	Transferrin endocytosis and recycling	GO:0006879;cellular iron ion homeostasis;IEA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0016032;viral process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0030890;positive regulation of B cell proliferation;IDA|GO:0031623;receptor internalization;IDA|GO:0033572;transferrin transport;IEA|GO:0035690;cellular response to drug;IDA|GO:0042102;positive regulation of T cell proliferation;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045830;positive regulation of isotype switching;IDA|GO:0046718;viral entry into host cell;IEA|GO:0061024;membrane organization;TAS|GO:0097286;iron ion import;IDA	GO:0005576;extracellular region;IDA|GO:0005615;extracellular space;IDA|GO:0005768;endosome;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IGI|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IDA|GO:0042470;melanosome;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1903561;extracellular vesicle;IDA|GO:1990712;HFE-transferrin receptor complex;IDA	GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0004998;transferrin receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0033570;transferrin transmembrane transporter activity;IDA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TFRC	https://www.uniprot.org/uniprot/P02786	https://hpo.jax.org/app/browse/search?q=TFRC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=190010	http://www.informatics.jax.org/searchtool/Search.do?query=TFRC&submit=Quick%0D%1429ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TFRC	rs3817672	0.30631	0.4380	0.4470	0.08	1	13	exonic	exonic	exonic	TFRC	TFRC	ENSG00000072274	nonsynonymous SNV	nonsynonymous SNV	unknown	TFRC:NM_003234:exon4:c.G424A:p.G142S,TFRC:NM_001128148:exon4:c.G424A:p.G142S,	TFRC:uc010hzy.3:exon3:c.G181A:p.G61S,TFRC:uc003fwa.4:exon4:c.G424A:p.G142S,TFRC:uc003fvz.4:exon4:c.G424A:p.G142S,	UNKNOWN	Het;C>T	455;31|21	Het;C>T	643;11|27	Hom;C>T	1314;0|43
N	N	-	3	196674749	196674749	C	T	snp	nonsynonymous SNV	G1019A	R340Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	PIGZ	Pigz	ENSG00000119227	phosphatidylinositol glycan anchor biosynthesis class Z	chr3:196673214-196695931	The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]		 		GO:0006506;GPI anchor biosynthetic process;IEA|GO:0097502;mannosylation;IEA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000026;alpha-1,2-mannosyltransferase activity;IMP|GO:0000030;mannosyltransferase activity;IGI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIGZ	https://www.uniprot.org/uniprot/Q86VD9		https://www.ncbi.nlm.nih.gov/omim/?term=611671	http://www.informatics.jax.org/searchtool/Search.do?query=PIGZ&submit=Quick%0D%5040ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGZ	rs4916589	0.632188	0.6077	0.5911	0.15	2	13	exonic	exonic	exonic	PIGZ	PIGZ	ENSG00000119227	nonsynonymous SNV	nonsynonymous SNV	unknown	PIGZ:NM_025163:exon3:c.G1019A:p.R340Q,	PIGZ:uc003fxh.3:exon3:c.G1019A:p.R340Q,	UNKNOWN	Het;C>T	2387;92|100	Het;C>T	2643;72|106	Hom;C>T	3069;1|107
N	N	-	3	46008790	46008790	G	A	snp	nonsynonymous SNV	C2036T	A679V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FYCO1	Fyco1	ENSG00000163820	FYVE and coiled-coil domain containing 1	chr3:45959396-46037316	This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011]	Behcet Syndrome; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder	 		GO:0006458;'de novo' protein folding;IBA|GO:0006810;transport;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:0072383;plus-end-directed vesicle transport along microtubule;IMP|GO:1901098;positive regulation of autophagosome maturation;IMP	GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/FYCO1		https://hpo.jax.org/app/browse/search?q=FYCO1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607182	http://www.informatics.jax.org/searchtool/Search.do?query=FYCO1&submit=Quick%0D%11103ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FYCO1	rs3796375	0.395168	0.3331	0.4303	0.31	4	13	exonic	exonic	exonic	FYCO1	FYCO1	ENSG00000163820	nonsynonymous SNV	nonsynonymous SNV	unknown	FYCO1:NM_024513:exon8:c.C2036T:p.A679V,	FYCO1:uc011bal.1:exon7:c.C2036T:p.A679V,FYCO1:uc003cpb.5:exon8:c.C2036T:p.A679V,	UNKNOWN	Het;G>A	1284;67|56	Het;G>A	1255;33|56	Hom;G>A	2469;0|87
N	N	-	3	46009864	46009864	C	G	snp	nonsynonymous SNV	G962C	G321A	aliphatic,neutral	aliphatic,hydrophobic,neutral	FYCO1	Fyco1	ENSG00000163820	FYVE and coiled-coil domain containing 1	chr3:45959396-46037316	This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011]	Behcet Syndrome; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder	 		GO:0006458;'de novo' protein folding;IBA|GO:0006810;transport;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:0072383;plus-end-directed vesicle transport along microtubule;IMP|GO:1901098;positive regulation of autophagosome maturation;IMP	GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/FYCO1		https://hpo.jax.org/app/browse/search?q=FYCO1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607182	http://www.informatics.jax.org/searchtool/Search.do?query=FYCO1&submit=Quick%0D%11103ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FYCO1	rs3733100	0.532947	0.4432	0.5670	0.15	2	13	exonic	exonic	exonic	FYCO1	FYCO1	ENSG00000163820	nonsynonymous SNV	nonsynonymous SNV	unknown	FYCO1:NM_024513:exon8:c.G962C:p.G321A,	FYCO1:uc011bal.1:exon7:c.G962C:p.G321A,FYCO1:uc003cpb.5:exon8:c.G962C:p.G321A,	UNKNOWN	Het;C>G	2393;78|94	Het;C>G	1629;82|67	Hom;C>G	4509;0|152
N	N	-	3	46480958	46480958	C	G	snp	nonsynonymous SNV	G1698C	E566D	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	LTF	Ltf	ENSG00000012223	lactotransferrin	chr3:46477136-46526724	This gene is a member of the transferrin family of genes and its protein product is found in the secondary granules of neutrophils. The protein is a major iron-binding protein in milk and body secretions with an antimicrobial activity, making it an important component of the non-specific immune system. The protein demonstrates a broad spectrum of properties, including regulation of iron homeostasis, host defense against a broad range of microbial infections, anti-inflammatory activity, regulation of cellular growth and differentiation and protection against cancer development and metastasis. Antimicrobial, antiviral, antifungal and antiparasitic activity has been found for this protein and its peptides. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]	respiratory syncytial virus bronchiolitis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; kidney aging; Dental Caries; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Dyslipidemias|Glucose Intolerance|Obesity; Keratitis, Herpetic; Tobacco Use Disorder; diarrhea; nephropathy, IgA; cognitive trait; Aggressive Periodontitis|Chronic Periodontitis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Abortion, Spontaneous; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Aging/ Telomere Length	Mice homozygous for a knock-out allele are viable, fertile, and grossly normal and exhibit only minor alterations in iron homeostasis. Mice homozygous for a different knock-out allele show increased susceptibility to inflammation-induced colorectal dysplasia along with increased cell proliferation and decreased apoptosis in colonic tissues.	Amyloid fiber formation	GO:0001503;ossification;IEA|GO:0001817;regulation of cytokine production;IDA|GO:0001895;retina homeostasis;IEP|GO:0002227;innate immune response in mucosa;IDA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006508;proteolysis;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006959;humoral immune response;TAS|GO:0019730;antimicrobial humoral response;TAS|GO:0019731;antibacterial humoral response;IDA|GO:0019732;antifungal humoral response;IDA|GO:0031665;negative regulation of lipopolysaccharide-mediated signaling pathway;IDA|GO:0032680;regulation of tumor necrosis factor production;IDA|GO:0032780;negative regulation of ATPase activity;IMP|GO:0033214;iron assimilation by chelation and transport;TAS|GO:0033690;positive regulation of osteoblast proliferation;IDA|GO:0034145;positive regulation of toll-like receptor 4 signaling pathway;IMP|GO:0042742;defense response to bacterium;IEA|GO:0043066;negative regulation of apoptotic process;ISS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0044793;negative regulation by host of viral process;IMP|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:0048525;negative regulation of viral process;IMP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0055072;iron ion homeostasis;IEA|GO:0060349;bone morphogenesis;IDA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:1900159;positive regulation of bone mineralization involved in bone maturation;ISS|GO:1900229;negative regulation of single-species biofilm formation in or on host organism;IDA|GO:1902732;positive regulation of chondrocyte proliferation;IDA|GO:2000117;negative regulation of cysteine-type endopeptidase activity;IDA|GO:2000308;negative regulation of tumor necrosis factor (ligand) superfamily member 11 production;ISS|GO:2001205;negative regulation of osteoclast development;ISS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IMP|GO:0009986;cell surface;IDA|GO:0030141;secretory granule;IDA|GO:0035580;specific granule lumen;TAS|GO:0042581;specific granule;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0097013;phagocytic vesicle lumen;TAS|GO:1904724;tertiary granule lumen;TAS	GO:0003677;DNA binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0004869;cysteine-type endopeptidase inhibitor activity;IDA|GO:0005506;iron ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0043539;protein serine/threonine kinase activator activity;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LTF	https://www.uniprot.org/uniprot/P02788		https://www.ncbi.nlm.nih.gov/omim/?term=150210	http://www.informatics.jax.org/searchtool/Search.do?query=LTF&submit=Quick%0D%577ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LTF	rs2073495	0.277157	0.2578	0.3237	0.08	1	13	exonic	exonic	exonic	LTF	LTF	ENSG00000012223	nonsynonymous SNV	nonsynonymous SNV	unknown	LTF:NM_001199149:exon15:c.G1605C:p.E535D,LTF:NM_002343:exon15:c.G1737C:p.E579D,	LTF:uc003cpr.3:exon18:c.G1698C:p.E566D,LTF:uc003fzr.3:exon15:c.G1605C:p.E535D,LTF:uc010hjh.3:exon15:c.G1731C:p.E577D,LTF:uc003cpq.3:exon15:c.G1737C:p.E579D,	UNKNOWN	Het;C>G	1192;29|44	Het;C>G	706;34|34	Hom;C>G	1188;1|41
N	N	-	3	48626832	48626832	C	T	snp	nonsynonymous SNV	G2242A	E748K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	COL7A1	Col7a1	ENSG00000114270	collagen type VII alpha 1 chain	chr3:48601506-48632700	This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]	dystrophic epidermolysis bullosa; null; schizophrenia; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa|Pruritus	Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality.	Collagen chain trimerization	GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007155;cell adhesion;IEA|GO:0008544;epidermis development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0048208;COPII vesicle coating;TAS	GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005590;collagen type VII trimer;TAS|GO:0005604;basement membrane;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031012;extracellular matrix;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0030414;peptidase inhibitor activity;IEA|GO:0042802;identical protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL7A1	https://www.uniprot.org/uniprot/Q02388	https://hpo.jax.org/app/browse/search?q=COL7A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120120	http://www.informatics.jax.org/searchtool/Search.do?query=COL7A1&submit=Quick%0D%4447ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL7A1	rs148411473	0.00379393	0.0009	0.0033	0.46	6	13	exonic	exonic	exonic	COL7A1	COL7A1	ENSG00000114270	nonsynonymous SNV	nonsynonymous SNV	unknown	COL7A1:NM_000094:exon17:c.G2242A:p.E748K,	COL7A1:uc003ctz.2:exon17:c.G2242A:p.E748K,	UNKNOWN	Het;C>T	2308;141|113	Het;C>T	1876;129|91	Hom;C>T	5712;4|212
N	N	-	3	49167132	49167132	G	A	snp	nonsynonymous SNV	C1423T	R475W	polar,hydrophilic,charged(+)	aromatic,hydrophobic,neutral	LAMB2	Lamb2	ENSG00000172037	laminin subunit beta 2	chr3:49158547-49170551	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]	Eye Diseases|Glomerulosclerosis, Focal Segmental|Nephrotic Syndrome; nephrotic syndrome; schizophrenia; Chronic renal failure|Kidney Failure, Chronic|Nephrotic Syndrome	Homozygotes for a targeted null mutation exhibit small size, severe proteinuria due to a defect in glomerular filtration, abnormalities of the retina and skeletal neuromuscular synapses, and lethality by 30 days of age.	Post-translational protein phosphorylation	GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0007155;cell adhesion;IEA|GO:0007411;axon guidance;IEA|GO:0007528;neuromuscular junction development;IEA|GO:0007601;visual perception;IEA|GO:0014002;astrocyte development;IEA|GO:0014044;Schwann cell development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0031175;neuron projection development;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048677;axon extension involved in regeneration;IEA|GO:0050808;synapse organization;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0072249;metanephric glomerular visceral epithelial cell development;IEA|GO:0072274;metanephric glomerular basement membrane development;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IDA|GO:0005605;basal lamina;TAS|GO:0005608;laminin-3 complex;IPI|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043256;laminin complex;IEA|GO:0043260;laminin-11 complex;TAS|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0005178;integrin binding;IEA|GO:0005198;structural molecule activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/LAMB2		https://hpo.jax.org/app/browse/search?q=LAMB2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=150325	http://www.informatics.jax.org/searchtool/Search.do?query=LAMB2&submit=Quick%0D%13072ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMB2	rs144487632	0	0	3.305e-05	0.69	9	13	exonic	exonic	exonic	LAMB2	LAMB2	ENSG00000172037	nonsynonymous SNV	nonsynonymous SNV	unknown	LAMB2:NM_002292:exon11:c.C1423T:p.R475W,	LAMB2:uc003cwe.3:exon11:c.C1423T:p.R475W,LAMB2:uc003cwf.1:exon12:c.C1423T:p.R475W,	UNKNOWN	Het;G>A	2618;84|108	Het;G>A	1360;80|67	Hom;G>A	3766;2|146
N	N	-	3	50222926	50222926	T	A	snp	nonsynonymous SNV	T1507A	L503M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	SEMA3F	Sema3f	ENSG00000001617	semaphorin 3F	chr3:50192478-50226508	This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]	Myocardial Infarction; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; prostate cancer	Inactivation of this locus results in neuronal defects including impaired CNS axon pathfinding, and PNS and limbic system circuitry. Mice homozygous for a knock-out allele exhibit increased lymphatic branching complexity and LEC numbers.		GO:0001755;neural crest cell migration;IEA|GO:0007411;axon guidance;IDA|GO:0021612;facial nerve structural organization;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050919;negative chemotaxis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS	GO:0045499;chemorepellent activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SEMA3F	https://www.uniprot.org/uniprot/Q13275		https://www.ncbi.nlm.nih.gov/omim/?term=601124	http://www.informatics.jax.org/searchtool/Search.do?query=SEMA3F&submit=Quick%0D%283ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA3F	rs1046956	0.765974	0.6338	0.7380	0.08	1	13	exonic	exonic	exonic	SEMA3F	SEMA3F	ENSG00000001617	nonsynonymous SNV	nonsynonymous SNV	unknown	SEMA3F:NM_004186:exon14:c.T1507A:p.L503M,	SEMA3F:uc003cyj.3:exon14:c.T1507A:p.L503M,SEMA3F:uc003cyk.3:exon13:c.T1414A:p.L472M,	UNKNOWN	Het;T>A	799;31|33	Het;T>A	799;34|36	Hom;T>A	1613;0|60
N	N	-	3	52172214	52172214	G	A	snp	nonsynonymous SNV	C670T	R224W	polar,hydrophilic,charged(+)	aromatic,hydrophobic,neutral	POC1A	Poc1a	ENSG00000164087	POC1 centriolar protein A	chr3:52109269-52188706	POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]	Short Stature Onychodysplasia Facial Dysmorphism and Hypotrichosis Syndrome	Mice homozygous for this mutation exhibit disproportionate dwarfism and male infertility.		GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0007052;mitotic spindle organization;IEA|GO:0007283;spermatogenesis;IEA|GO:0010825;positive regulation of centrosome duplication;IEA|GO:0030030;cell projection organization;IEA|GO:0060348;bone development;IEA|GO:1905515;non-motile cilium assembly;IEA	GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/POC1A		https://hpo.jax.org/app/browse/search?q=POC1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614783	http://www.informatics.jax.org/searchtool/Search.do?query=POC1A&submit=Quick%0D%11191ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POC1A	rs146976547	0	0.0002	0.0002	0.69	9	13	exonic	exonic	exonic	POC1A	POC1A	ENSG00000164087	nonsynonymous SNV	nonsynonymous SNV	unknown	POC1A:NM_001161581:exon7:c.C670T:p.R224W,POC1A:NM_001161580:exon7:c.C784T:p.R262W,POC1A:NM_015426:exon7:c.C784T:p.R262W,	POC1A:uc003dcv.3:exon7:c.C670T:p.R224W,POC1A:uc003dcu.3:exon7:c.C784T:p.R262W,POC1A:uc003dcw.3:exon7:c.C784T:p.R262W,	UNKNOWN	Het;G>A	1580;68|71	Het;G>A	1431;85|67	Hom;G>A	3619;2|132
N	N	-	3	52325759	52325759	A	G	snp	splicing	530-2A>G	 	 	 	GLYCTK	Glyctk	ENSG00000168237	glycerate kinase	chr3:52321105-52329272	This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]	longevity	 	Fructose catabolism	GO:0006468;protein phosphorylation;IDA|GO:0016310;phosphorylation;IEA|GO:0061624;fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate;TAS	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008887;glycerate kinase activity;TAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GLYCTK		https://hpo.jax.org/app/browse/search?q=GLYCTK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610516	http://www.informatics.jax.org/searchtool/Search.do?query=GLYCTK&submit=Quick%0D%12218ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLYCTK	rs2276834	0.508986	0.5491	0.4852	1	0	0	intronic	intronic	splicing	GLYCTK	GLYCTK	ENSG00000168237(ENST00000486393:exon4:c.530-2A>G)	Na	Na	Na	Na	Na	Na	Het;A>G	1852;78|73	Het;A>G	1422;66|60	Hom;A>G	2947;0|98
N	N	-	3	52556890	52556890	A	G	snp	nonsynonymous SNV	A889G	I297V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	STAB1	Stab1	ENSG00000010327	stabilin 1	chr3:52529354-52558511	This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]	schizophrenia	Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities.	Scavenging by Class H Receptors	GO:0006898;receptor-mediated endocytosis;TAS|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;NAS|GO:0007267;cell-cell signaling;IDA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS	GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/STAB1	https://www.uniprot.org/uniprot/Q9NY15		https://www.ncbi.nlm.nih.gov/omim/?term=608560	http://www.informatics.jax.org/searchtool/Search.do?query=STAB1&submit=Quick%0D%522ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB1	rs4434138	0.341254	0.3765	0.4292	0.15	2	13	exonic	exonic	exonic	STAB1	STAB1	ENSG00000010327	nonsynonymous SNV	nonsynonymous SNV	unknown	STAB1:NM_015136:exon62:c.A6844G:p.I2282V,	STAB1:uc003dek.1:exon12:c.A889G:p.I297V,STAB1:uc003dej.3:exon62:c.A6844G:p.I2282V,STAB1:uc003del.3:exon6:c.A505G:p.I169V,	UNKNOWN	Het;A>G	2814;113|115	Het;A>G	2956;83|124	Hom;A>G	5878;0|213
N	N	-	3	52558008	52558008	T	C	snp	nonsynonymous SNV	T7517C	M2506T	hydrophobic,neutral	polar,hydrophilic,neutral	STAB1	Stab1	ENSG00000010327	stabilin 1	chr3:52529354-52558511	This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]	schizophrenia	Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities.	Scavenging by Class H Receptors	GO:0006898;receptor-mediated endocytosis;TAS|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;NAS|GO:0007267;cell-cell signaling;IDA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS	GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/STAB1	https://www.uniprot.org/uniprot/Q9NY15		https://www.ncbi.nlm.nih.gov/omim/?term=608560	http://www.informatics.jax.org/searchtool/Search.do?query=STAB1&submit=Quick%0D%522ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB1	rs13303	0.548522	0.5978	0.5453	0.23	3	13	exonic	exonic	exonic	STAB1	STAB1	ENSG00000010327	nonsynonymous SNV	nonsynonymous SNV	unknown	STAB1:NM_015136:exon67:c.T7517C:p.M2506T,	STAB1:uc003dej.3:exon67:c.T7517C:p.M2506T,STAB1:uc003del.3:exon10:c.T1253C:p.M418T,	UNKNOWN	Het;T>C	2074;79|88	Het;T>C	1792;89|80	Hom;T>C	4361;3|156
N	N	-	3	52721305	52721305	G	A	snp	nonsynonymous SNV	G80A	R27Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	GNL3	Gnl3	ENSG00000163938	G protein nucleolar 3	chr3:52715172-52728508	The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]	schizophrenia; Bipolar Disorder; Adiponectin	Homozygous disruption of this gene leads to early embryonic loss as blastocysts fail to enter the S phase. MEFs heterozygous for a gene trap allele have reduced proliferative capacity while MEFs heterozygous for a null allele show reduced doubling rates,increased apoptosis and premature senescence.	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0008283;cell proliferation;IEA|GO:0017145;stem cell division;IDA|GO:0019827;stem cell population maintenance;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0033235;positive regulation of protein sumoylation;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP|GO:1904816;positive regulation of protein localization to chromosome, telomeric region;IMP	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0048027;mRNA 5'-UTR binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GNL3			https://www.ncbi.nlm.nih.gov/omim/?term=608011	http://www.informatics.jax.org/searchtool/Search.do?query=GNL3&submit=Quick%0D%11139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNL3	rs11177	0.311901	0.3249	0.3749	0.15	2	13	exonic	exonic	exonic	GNL3	GNL3	ENSG00000163938	nonsynonymous SNV	nonsynonymous SNV	unknown	GNL3:NM_206825:exon3:c.G80A:p.R27Q,GNL3:NM_014366:exon3:c.G116A:p.R39Q,GNL3:NM_206826:exon3:c.G80A:p.R27Q,	GNL3:uc003dfe.3:exon3:c.G80A:p.R27Q,GNL3:uc003dfd.3:exon3:c.G116A:p.R39Q,GNL3:uc003dff.3:exon3:c.G80A:p.R27Q,	UNKNOWN	Het;G>A	1321;69|65	Het;G>A	1223;68|60	Hom;G>A	2684;2|105
N	N	-	3	52727257	52727257	G	A	snp	nonsynonymous SNV	G1063A	V355M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	GNL3	Gnl3	ENSG00000163938	G protein nucleolar 3	chr3:52715172-52728508	The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]	schizophrenia; Bipolar Disorder; Adiponectin	Homozygous disruption of this gene leads to early embryonic loss as blastocysts fail to enter the S phase. MEFs heterozygous for a gene trap allele have reduced proliferative capacity while MEFs heterozygous for a null allele show reduced doubling rates,increased apoptosis and premature senescence.	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0008283;cell proliferation;IEA|GO:0017145;stem cell division;IDA|GO:0019827;stem cell population maintenance;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0033235;positive regulation of protein sumoylation;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP|GO:1904816;positive regulation of protein localization to chromosome, telomeric region;IMP	GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0048027;mRNA 5'-UTR binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GNL3			https://www.ncbi.nlm.nih.gov/omim/?term=608011	http://www.informatics.jax.org/searchtool/Search.do?query=GNL3&submit=Quick%0D%11139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNL3	rs2289247	0.445088	0.4602	0.4292	0.08	1	13	exonic	exonic	exonic	GNL3	GNL3	ENSG00000163938	nonsynonymous SNV	nonsynonymous SNV	unknown	GNL3:NM_206825:exon11:c.G1063A:p.V355M,GNL3:NM_014366:exon11:c.G1099A:p.V367M,GNL3:NM_206826:exon11:c.G1063A:p.V355M,	GNL3:uc003dfe.3:exon11:c.G1063A:p.V355M,GNL3:uc003dfd.3:exon11:c.G1099A:p.V367M,GNL3:uc003dff.3:exon11:c.G1063A:p.V355M,	UNKNOWN	Het;G>A	1627;87|67	Het;G>A	1672;86|76	Hom;G>A	4095;0|148
N	N	-	3	52740182	52740182	C	G	snp	nonsynonymous SNV	C121G	P41A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	SPCS1	Spcs1	ENSG00000114902	signal peptidase complex subunit 1	chr3:52738971-52742182			 	Synthesis, secretion, and deacylation of Ghrelin	GO:0006465;signal peptide processing;IEA|GO:0006508;proteolysis;IEA|GO:0045047;protein targeting to ER;IBA	GO:0005783;endoplasmic reticulum;IEA|GO:0005787;signal peptidase complex;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0043022;ribosome binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SPCS1	https://www.uniprot.org/uniprot/Q9Y6A9		https://www.ncbi.nlm.nih.gov/omim/?term=610358	http://www.informatics.jax.org/searchtool/Search.do?query=SPCS1&submit=Quick%0D%4517ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPCS1	rs6617	0.445288	0	0.4158	0.09	1	11	exonic	exonic	exonic	SPCS1	SPCS1	ENSG00000114902	nonsynonymous SNV	nonsynonymous SNV	unknown	SPCS1:NM_014041:exon1:c.C121G:p.P41A,	SPCS1:uc011bei.2:exon1:c.C121G:p.P41A,	UNKNOWN	Het;C>G	788;55|41	Het;C>G	553;40|29	Hom;C>G	1541;0|53
N	N	-	3	52771577	52771577	T	C	snp	nonsynonymous SNV	A2320G	R774G	polar,hydrophilic,charged(+)	aliphatic,neutral	NEK4	Nek4	ENSG00000114904	NIMA related kinase 4	chr3:52744800-52804965		Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Bipolar disorder; Bipolar Disorder; longevity; Chronic renal failure|Kidney Failure, Chronic	 		GO:0000278;mitotic cell cycle;IMP|GO:0006468;protein phosphorylation;TAS|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0051301;cell division;IEA|GO:1900062;regulation of replicative cell aging;IMP|GO:2000772;regulation of cellular senescence;IMP|GO:2001020;regulation of response to DNA damage stimulus;IMP	GO:0005737;cytoplasm;IBA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEK4	https://www.uniprot.org/uniprot/P51957		https://www.ncbi.nlm.nih.gov/omim/?term=601959	http://www.informatics.jax.org/searchtool/Search.do?query=NEK4&submit=Quick%0D%4518ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK4	rs72960250	0.0157748	0.0148	0.0048	0.09	1	11	intronic	exonic	exonic	NEK4	NEK4	ENSG00000114904	Na	nonsynonymous SNV	unknown	Na	NEK4:uc003dfr.3:exon14:c.A2320G:p.R774G,	UNKNOWN	Het;T>C	681;29|24	Het;T>C	439;30|17	Hom;T>C	1522;2|56
N	N	-	3	52797634	52797634	G	C	snp	nonsynonymous SNV	C673G	P225A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	NEK4	Nek4	ENSG00000114904	NIMA related kinase 4	chr3:52744800-52804965		Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Bipolar disorder; Bipolar Disorder; longevity; Chronic renal failure|Kidney Failure, Chronic	 		GO:0000278;mitotic cell cycle;IMP|GO:0006468;protein phosphorylation;TAS|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0051301;cell division;IEA|GO:1900062;regulation of replicative cell aging;IMP|GO:2000772;regulation of cellular senescence;IMP|GO:2001020;regulation of response to DNA damage stimulus;IMP	GO:0005737;cytoplasm;IBA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEK4	https://www.uniprot.org/uniprot/P51957		https://www.ncbi.nlm.nih.gov/omim/?term=601959	http://www.informatics.jax.org/searchtool/Search.do?query=NEK4&submit=Quick%0D%4518ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK4	rs1029871	0.30631	0.3181	0.3727	0.62	8	13	exonic	exonic	exonic	NEK4	NEK4	ENSG00000114904	nonsynonymous SNV	nonsynonymous SNV	unknown	NEK4:NM_001193533:exon4:c.C406G:p.P136A,NEK4:NM_003157:exon5:c.C673G:p.P225A,	NEK4:uc003dfr.3:exon5:c.C673G:p.P225A,NEK4:uc003dfq.4:exon5:c.C673G:p.P225A,NEK4:uc011bej.2:exon4:c.C406G:p.P136A,	UNKNOWN	Het;G>C	421;16|18	Het;G>C	402;19|16	Hom;G>C	866;0|26
N	N	-	3	52820981	52820981	A	T	snp	nonsynonymous SNV	A1754T	E585V	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	ITIH1	Itih1	ENSG00000055957	inter-alpha-trypsin inhibitor heavy chain 1	chr3:52811603-52826078	This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015]	Leukocyte Count; schizophrenia; Bipolar Disorder; Bipolar disorder	 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030212;hyaluronan metabolic process;IEA	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005509;calcium ion binding;TAS|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITIH1	https://www.uniprot.org/uniprot/P19827		https://www.ncbi.nlm.nih.gov/omim/?term=147270	http://www.informatics.jax.org/searchtool/Search.do?query=ITIH1&submit=Quick%0D%1004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITIH1	rs678	0.286941	0.3004	0.3522	0.69	9	13	exonic	exonic	exonic	ITIH1	ITIH1	ENSG00000055957	nonsynonymous SNV	nonsynonymous SNV	unknown	ITIH1:NM_002215:exon14:c.A1754T:p.E585V,ITIH1:NM_001166436:exon10:c.A890T:p.E297V,ITIH1:NM_001166434:exon12:c.A1328T:p.E443V,ITIH1:NM_001166435:exon10:c.A890T:p.E297V,	ITIH1:uc003dfs.3:exon14:c.A1754T:p.E585V,ITIH1:uc003dft.3:exon5:c.A557T:p.E186V,ITIH1:uc021wzg.1:exon10:c.A890T:p.E297V,ITIH1:uc021wzh.1:exon10:c.A890T:p.E297V,ITIH1:uc021wzf.1:exon12:c.A1328T:p.E443V,	UNKNOWN	Het;A>T	3314;67|91	Het;A>T	2470;89|65	Hom;A>T	6770;0|153
N	N	-	3	52821011	52821011	A	G	snp	nonsynonymous SNV	A1784G	Q595R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	ITIH1	Itih1	ENSG00000055957	inter-alpha-trypsin inhibitor heavy chain 1	chr3:52811603-52826078	This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015]	Leukocyte Count; schizophrenia; Bipolar Disorder; Bipolar disorder	 		GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030212;hyaluronan metabolic process;IEA	GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005509;calcium ion binding;TAS|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ITIH1	https://www.uniprot.org/uniprot/P19827		https://www.ncbi.nlm.nih.gov/omim/?term=147270	http://www.informatics.jax.org/searchtool/Search.do?query=ITIH1&submit=Quick%0D%1004ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITIH1	rs1042779	0.42472	0.4196	0.3979	0.23	3	13	exonic	exonic	exonic	ITIH1	ITIH1	ENSG00000055957	nonsynonymous SNV	nonsynonymous SNV	unknown	ITIH1:NM_002215:exon14:c.A1784G:p.Q595R,ITIH1:NM_001166436:exon10:c.A920G:p.Q307R,ITIH1:NM_001166434:exon12:c.A1358G:p.Q453R,ITIH1:NM_001166435:exon10:c.A920G:p.Q307R,	ITIH1:uc003dfs.3:exon14:c.A1784G:p.Q595R,ITIH1:uc003dft.3:exon5:c.A587G:p.Q196R,ITIH1:uc021wzg.1:exon10:c.A920G:p.Q307R,ITIH1:uc021wzh.1:exon10:c.A920G:p.Q307R,ITIH1:uc021wzf.1:exon12:c.A1358G:p.Q453R,	UNKNOWN	Het;A>G	3589;84|101	Het;A>G	3233;112|101	Hom;A>G	7942;0|197
N	N	-	3	57335876	57335876	C	T	snp	nonsynonymous SNV	G8677A	G2893S	aliphatic,neutral	polar,hydrophilic,neutral	DNAH12	Dnah12	ENSG00000174844	dynein axonemal heavy chain 12	chr3:57327727-57530071		Stroke; Tobacco Use Disorder; Crohn Disease|Crohn's disease; Prostatic Neoplasms	 		GO:0007018;microtubule-based movement;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNAH12			https://www.ncbi.nlm.nih.gov/omim/?term=603340	http://www.informatics.jax.org/searchtool/Search.do?query=DNAH12&submit=Quick%0D%13588ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH12	rs4060726	0.665136	0.5769	0.6184	0.23	3	13	exonic	exonic	exonic	DNAH12	DNAH12	ENSG00000174844	unknown	nonsynonymous SNV	unknown	UNKNOWN	DNAH12:uc003dit.2:exon55:c.G8677A:p.G2893S,DNAH12:uc010hnc.2:exon10:c.G1438A:p.G480S,	UNKNOWN	Het;C>T	1483;126|75	Het;C>T	1760;113|89	Hom;C>T	5066;0|191
N	N	-	4	106196951	106196951	A	G	snp	nonsynonymous SNV	A5284G	I1762V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TET2	Tet2	ENSG00000168769	tet methylcytosine dioxygenase 2	chr4:106067032-106200973	The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]	Leukemia, Myeloid, Acute|Leukemia, Myelomonocytic, Chronic|Myeloproliferative Disorders; Polycythemia Vera|Primary Myelofibrosis|Thrombocythemia, Essential; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia; Leukemia, Myelomonocytic, Chronic; Electrocardiography; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; prostate cancer; Leukemia, Myelomonocytic, Chronic|Myelodysplastic Syndromes|Preleukemia; Myeloproliferative Disorders; Mastocytosis, Systemic; Myelodysplastic Syndromes; Leukemia, Myeloid, Acute|Translocation, Genetic; leukemia; Blast Crisis|Blast Phase|Polycythemia Vera|Primary Myelofibrosis|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Alcoholism; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Myeloproliferative Disorders	Mice homozygous for a gene trapped allele die shortly after birth and exhibit a loss of acidic granules in the proximal convoluted tubules of the kidneys. Mice homozygous for a conditional allele activated in hematopoeitic compartment exhibit self-renewal and myeloid transforamtion.	TET1,2,3 and TDG demethylate DNA	GO:0006211;5-methylcytosine catabolic process;IDA|GO:0006493;protein O-linked glycosylation;IDA|GO:0007049;cell cycle;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030099;myeloid cell differentiation;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0080111;DNA demethylation;IDA|GO:0080182;histone H3-K4 trimethylation;IMP|GO:0006211;5-methylcytosine catabolic process;IDA|GO:0006493;protein O-linked glycosylation;IDA|GO:0007049;cell cycle;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030099;myeloid cell differentiation;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0080111;DNA demethylation;IDA|GO:0080182;histone H3-K4 trimethylation;IMP		GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008198;ferrous iron binding;IDA|GO:0008270;zinc ion binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA|GO:0070579;methylcytosine dioxygenase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TET2	https://www.uniprot.org/uniprot/Q6N021	https://hpo.jax.org/app/browse/search?q=TET2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612839	http://www.informatics.jax.org/searchtool/Search.do?query=TET2&submit=Quick%0D%5ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TET2	rs2454206	0.230431	0.2873	0.2951	0.17	2	12	exonic	exonic	exonic	TET2	TET2	ENSG00000168769	nonsynonymous SNV	nonsynonymous SNV	unknown	TET2:NM_001127208:exon11:c.A5284G:p.I1762V,	TET2:uc003hxk.3:exon11:c.A5284G:p.I1762V,TET2:uc011cez.2:exon11:c.A5347G:p.I1783V,	UNKNOWN	Het;A>G	2227;78|90	Het;A>G	1326;61|59	Hom;A>G	3360;2|120
N	N	-	4	106317429	106317429	C	G	snp	nonsynonymous SNV	G348C	K116N	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	PPA2	Ppa2	ENSG00000138777	pyrophosphatase (inorganic) 2	chr4:106290234-106395238	The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Alcoholism; Tobacco Use Disorder	 	Pyrophosphate hydrolysis	GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006470;protein dephosphorylation;IEA|GO:0006796;phosphate-containing compound metabolic process;IEA|GO:0051881;regulation of mitochondrial membrane potential;IMP|GO:0071344;diphosphate metabolic process;TAS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA	GO:0000287;magnesium ion binding;IEA|GO:0004427;inorganic diphosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPA2	https://www.uniprot.org/uniprot/Q9H2U2	https://hpo.jax.org/app/browse/search?q=PPA2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609988	http://www.informatics.jax.org/searchtool/Search.do?query=PPA2&submit=Quick%0D%7800ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPA2	rs13787	0.432708	0.3469	0.4544	0.38	5	13	exonic	exonic	exonic	PPA2	PPA2	ENSG00000138777	nonsynonymous SNV	nonsynonymous SNV	unknown	PPA2:NM_176869:exon9:c.G846C:p.K282N,PPA2:NM_006903:exon8:c.G759C:p.K253N,PPA2:NM_176866:exon5:c.G540C:p.K180N,PPA2:NM_176867:exon3:c.G348C:p.K116N,	PPA2:uc003hxp.3:exon3:c.G348C:p.K116N,PPA2:uc003hxn.3:exon8:c.G759C:p.K253N,PPA2:uc003hxq.3:exon10:c.G567C:p.K189N,PPA2:uc003hxl.3:exon9:c.G846C:p.K282N,PPA2:uc003hxo.3:exon5:c.G540C:p.K180N,	UNKNOWN	Het;C>G	456;41|23	Het;C>G	611;50|32	Hom;C>G	3418;2|129
N	N	-	4	119273712	119273712	C	G	snp	nonsynonymous SNV	G164C	R55T	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	PRSS12	Prss12	ENSG00000164099	protease, serine 12	chr4:119201193-119274158	This gene encodes a member of the trypsin family of serine proteases. Studies in mouse suggest that the encoded enzyme may be involved in structural reorganizations associated with learning and memory. The enzyme is also expressed in Leydig cells in the testis, but its function in this tissue is unknown. Defects in this gene are a cause of mental retardation autosomal recessive type 1 (MRT1). [provided by RefSeq, Jul 2010]	Stroke; Alcoholism; Lipids	Mice homozygous for a targeted mutation display hypoactivity and increased anxiety.		GO:0006508;proteolysis;IEA|GO:0006887;exocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0031638;zymogen activation;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043083;synaptic cleft;IEA|GO:0043195;terminal bouton;IEA|GO:0045202;synapse;IEA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005044;scavenger receptor activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRSS12		https://hpo.jax.org/app/browse/search?q=PRSS12&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606709	http://www.informatics.jax.org/searchtool/Search.do?query=PRSS12&submit=Quick%0D%11197ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRSS12	rs13119545	0.492212	0.5501	0.6543	0.15	2	13	exonic	exonic	exonic	PRSS12	PRSS12	ENSG00000164099	nonsynonymous SNV	nonsynonymous SNV	unknown	PRSS12:NM_003619:exon1:c.G164C:p.R55T,	PRSS12:uc003ica.2:exon1:c.G164C:p.R55T,	UNKNOWN	Het;C>G	1248;59|51	Het;C>G	729;42|35	Hom;C>G	2437;0|88
N	N	-	4	119948046	119948046	A	C	snp	nonsynonymous SNV	A522C	Q174H	polar,hydrophilic,neutral	aromatic,polar,hydrophilic,charged(+)	SYNPO2	Synpo2	ENSG00000172403	synaptopodin 2	chr4:119809996-119982402		Alcoholism; Echocardiography	 		GO:0000045;autophagosome assembly;IEA|GO:0032233;positive regulation of actin filament bundle assembly;IBA	GO:0001725;stress fiber;IDA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030018;Z disc;IBA|GO:0030054;cell junction;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0099023;tethering complex;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0031005;filamin binding;IDA|GO:0051371;muscle alpha-actinin binding;ISS|GO:0051393;alpha-actinin binding;IDA|GO:0071889;14-3-3 protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SYNPO2				http://www.informatics.jax.org/searchtool/Search.do?query=SYNPO2&submit=Quick%0D%13153ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNPO2	rs17263971	0.221645	0.2419	0.2379	0.15	2	13	exonic	exonic	exonic	SYNPO2	SYNPO2	ENSG00000172403	nonsynonymous SNV	nonsynonymous SNV	unknown	SYNPO2:NM_133477:exon3:c.A522C:p.Q174H,SYNPO2:NM_001286754:exon3:c.A429C:p.Q143H,SYNPO2:NM_001128934:exon3:c.A522C:p.Q174H,SYNPO2:NM_001128933:exon3:c.A522C:p.Q174H,	SYNPO2:uc010ina.3:exon3:c.A522C:p.Q174H,SYNPO2:uc010inb.3:exon3:c.A522C:p.Q174H,SYNPO2:uc003icm.4:exon3:c.A522C:p.Q174H,SYNPO2:uc010inc.3:exon2:c.A306C:p.Q102H,	UNKNOWN	Het;A>C	1772;54|70	Het;A>C	1222;50|51	Hom;A>C	3784;0|133
N	N	-	4	119951647	119951647	A	G	snp	nonsynonymous SNV	A1717G	T573A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	SYNPO2	Synpo2	ENSG00000172403	synaptopodin 2	chr4:119809996-119982402		Alcoholism; Echocardiography	 		GO:0000045;autophagosome assembly;IEA|GO:0032233;positive regulation of actin filament bundle assembly;IBA	GO:0001725;stress fiber;IDA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030018;Z disc;IBA|GO:0030054;cell junction;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0099023;tethering complex;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0031005;filamin binding;IDA|GO:0051371;muscle alpha-actinin binding;ISS|GO:0051393;alpha-actinin binding;IDA|GO:0071889;14-3-3 protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SYNPO2				http://www.informatics.jax.org/searchtool/Search.do?query=SYNPO2&submit=Quick%0D%13153ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNPO2	rs7698598	0.843251	0.8528	0.8485	0.08	1	13	exonic	exonic	exonic	SYNPO2	SYNPO2	ENSG00000172403	nonsynonymous SNV	nonsynonymous SNV	unknown	SYNPO2:NM_133477:exon4:c.A1717G:p.T573A,SYNPO2:NM_001286754:exon4:c.A1624G:p.T542A,SYNPO2:NM_001128934:exon4:c.A1717G:p.T573A,SYNPO2:NM_001128933:exon4:c.A1717G:p.T573A,	SYNPO2:uc010ina.3:exon4:c.A1717G:p.T573A,SYNPO2:uc010inb.3:exon4:c.A1717G:p.T573A,SYNPO2:uc003icm.4:exon4:c.A1717G:p.T573A,SYNPO2:uc010inc.3:exon3:c.A1501G:p.T501A,	UNKNOWN	Het;A>G	2688;100|108	Het;A>G	1751;87|75	Hom;A>G	5400;2|194
N	N	-	4	122250734	122250734	A	G	snp	nonsynonymous SNV	T1031C	L344S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	QRFPR	Qrfpr	ENSG00000186867	pyroglutamylated RFamide peptide receptor	chr4:122250467-122302214		Coronary Artery Disease; Tunica Media; Triglycerides	Mice homozygous for a mutation diisplay kyphosis with abnormal vertebrae morphology and development including osteopenia of the vertebrae.	G alpha (q) signalling events	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:1901652;response to peptide;IBA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004983;neuropeptide Y receptor activity;IEA|GO:0042277;peptide binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/QRFPR			https://www.ncbi.nlm.nih.gov/omim/?term=606925	http://www.informatics.jax.org/searchtool/Search.do?query=QRFPR&submit=Quick%0D%15726ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=QRFPR	rs2302310	0.320487	0.1632	0.2485	0.46	6	13	exonic	exonic	exonic	QRFPR	QRFPR	ENSG00000186867	nonsynonymous SNV	nonsynonymous SNV	unknown	QRFPR:NM_198179:exon6:c.T1031C:p.L344S,	QRFPR:uc010inj.1:exon6:c.T1031C:p.L344S,	UNKNOWN	Het;A>G	1838;82|79	Het;A>G	1259;67|58	Hom;A>G	3334;3|122
N	N	-	4	130030652	130030652	A	G	snp	nonsynonymous SNV	A319G	M107V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	C4orf33	D3Ertd751e	ENSG00000151470	chromosome 4 open reading frame 33	chr4:130014472-130037795		Echocardiography; Coronary Artery Disease; Hypertension; Obesity; Blood Pressure; Maximal Midexpiratory Flow Rate; Inflammation; Uric Acid; Respiratory Function Tests; Stroke	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C4orf33	https://www.uniprot.org/uniprot/Q8N1A6			http://www.informatics.jax.org/searchtool/Search.do?query=C4orf33&submit=Quick%0D%9425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf33	rs337277	0.695088	0.6974	0.7845	0.23	3	13	exonic	exonic	exonic	C4orf33	C4orf33	ENSG00000151470	nonsynonymous SNV	nonsynonymous SNV	unknown	C4orf33:NM_173487:exon5:c.A319G:p.M107V,C4orf33:NM_001099783:exon5:c.A319G:p.M107V,	C4orf33:uc003igu.4:exon5:c.A319G:p.M107V,C4orf33:uc010iod.3:exon5:c.A319G:p.M107V,C4orf33:uc010ioc.1:exon5:c.A319G:p.M107V,	UNKNOWN	Het;A>G	888;41|31	Het;A>G	738;28|29	Hom;A>G	1525;0|49
N	N	-	4	1388350	1388350	G	GTGCCCATGTGGAGTGCCCGCCTGCTCACACA	indel	frameshift substitution	51_51delinsGTGCCCATGTGGAGTGCCCGCCTGCTCACACA	 	 	 	CRIPAK	 	ENSG00000179979	cysteine rich PAK1 inhibitor	chr4:1385340-1389780	CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK			https://www.ncbi.nlm.nih.gov/omim/?term=610203	http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK	rs750778284	0	0	0.0576	1	0	0	exonic	exonic	exonic	CRIPAK	CRIPAK	ENSG00000179979	frameshift substitution	frameshift substitution	unknown	CRIPAK:NM_175918:exon1:c.51_51delinsGTGCCCATGTGGAGTGCCCGCCTGCTCACACA,	CRIPAK:uc003gdf.2:exon1:c.51_51delinsGTGCCCATGTGGAGTGCCCGCCTGCTCACACA,	UNKNOWN	Het;+TGCCCATGTGGAGTGCCCGCCTGCTCACACA	1784;66|33	Het;+TGCCCATGTGGAGTGCCCGCCTGCTCACACA	1289;47|24	Hom;+TGCCCATGTGGAGTGCCCGCCTGCTCACACA	3475;2|64
N	N	-	4	1388429	1388429	G	A	snp	nonsynonymous SNV	G130A	A44T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	CRIPAK	 	ENSG00000179979	cysteine rich PAK1 inhibitor	chr4:1385340-1389780	CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK			https://www.ncbi.nlm.nih.gov/omim/?term=610203	http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK	rs79298048	0.188498	0.3037	0.2488	0.17	2	12	exonic	exonic	exonic	CRIPAK	CRIPAK	ENSG00000179979	nonsynonymous SNV	nonsynonymous SNV	unknown	CRIPAK:NM_175918:exon1:c.G130A:p.A44T,	CRIPAK:uc003gdf.2:exon1:c.G130A:p.A44T,	UNKNOWN	Het;G>A	1356;103|47	Het;G>A	1817;66|54	Hom;G>A	2249;4|92
N	N	-	4	1389101	1389101	A	G	snp	nonsynonymous SNV	A802G	S268G	polar,hydrophilic,neutral	aliphatic,neutral	CRIPAK	 	ENSG00000179979	cysteine rich PAK1 inhibitor	chr4:1385340-1389780	CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK			https://www.ncbi.nlm.nih.gov/omim/?term=610203	http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK	rs71614971	0.19988	0.2940	0.2987	0.08	1	12	exonic	exonic	exonic	CRIPAK	CRIPAK	ENSG00000179979	nonsynonymous SNV	nonsynonymous SNV	unknown	CRIPAK:NM_175918:exon1:c.A802G:p.S268G,	CRIPAK:uc003gdf.2:exon1:c.A802G:p.S268G,	UNKNOWN	Het;A>G	710;16|23	Het;A>G	335;19|14	Hom;A>G	1409;1|45
N	N	-	4	1389161	1389161	A	G	snp	nonsynonymous SNV	A862G	S288G	polar,hydrophilic,neutral	aliphatic,neutral	CRIPAK	 	ENSG00000179979	cysteine rich PAK1 inhibitor	chr4:1385340-1389780	CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008]	HIV Infections|[X]Human immunodeficiency virus disease	 		GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK			https://www.ncbi.nlm.nih.gov/omim/?term=610203	http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK	rs71614973	0.209864	0	0.3167	0.08	1	12	exonic	exonic	exonic	CRIPAK	CRIPAK	ENSG00000179979	nonsynonymous SNV	nonsynonymous SNV	unknown	CRIPAK:NM_175918:exon1:c.A862G:p.S288G,	CRIPAK:uc003gdf.2:exon1:c.A862G:p.S288G,	UNKNOWN	Het;A>G	894;16|29	Het;A>G	308;18|13	Hom;A>G	1605;0|39
N	N	-	4	2451694	2451694	T	C	snp	nonsynonymous SNV	T757C	C253R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	LOC402160																		rs3108494	0.930112	0	0.8756	1	0	0	exonic	exonic	ncRNA_exonic	CFAP99	LOC402160	ENSG00000206113	nonsynonymous SNV	nonsynonymous SNV	Na	CFAP99:NM_001193282:exon8:c.T757C:p.C253R,	LOC402160:uc021xkr.1:exon8:c.T757C:p.C253R,	Na	Het;T>C	1247;51|59	Het;T>C	755;38|37	Hom;T>C	2108;0|78
N	N	-	4	40356422	40356422	A	G	snp	nonsynonymous SNV	A1325G	N442S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CHRNA9	Chrna9	ENSG00000174343	cholinergic receptor nicotinic alpha 9 subunit	chr4:40337346-40357234	This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012]	smoking behavior; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Leukocyte Count; cognitive function; bipolar disorder; Weight Gain; Tobacco Use Disorder	Homozygous mutation of this gene results in abnormal innervation of the outer hair cells and depressed olivocochlear response.	Highly calcium permeable postsynaptic nicotinic acetylcholine receptors	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IGI|GO:0007605;sensory perception of sound;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005892;acetylcholine-gated channel complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0015276;ligand-gated ion channel activity;TAS|GO:0022848;acetylcholine-gated cation-selective channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHRNA9			https://www.ncbi.nlm.nih.gov/omim/?term=605116	http://www.informatics.jax.org/searchtool/Search.do?query=CHRNA9&submit=Quick%0D%13509ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHRNA9	rs10009228	0.745008	0.7644	0.7837	0.23	3	13	exonic	exonic	exonic	CHRNA9	CHRNA9	ENSG00000174343	nonsynonymous SNV	nonsynonymous SNV	unknown	CHRNA9:NM_017581:exon5:c.A1325G:p.N442S,	CHRNA9:uc003gva.2:exon5:c.A1325G:p.N442S,	UNKNOWN	Het;A>G	1730;87|75	Het;A>G	2125;75|90	Hom;A>G	4587;2|162
N	N	-	4	5785442	5785442	G	A	snp	nonsynonymous SNV	G1727A	R576Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	EVC	Evc	ENSG00000072840	EvC ciliary complex subunit 1	chr4:5712924-5830772	This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Prostatic Neoplasms; Cleft Lip|Cleft Palate; Type 2 Diabetes| edema | rosiglitazone; suicide	Mice homozygous for a null allele exhibit some lethality shortly after birth and exhibit aphagia, infertile, teeth abnormalities, short limbs and long bones, delays in ossification, and short ribs.	Activation of SMO	GO:0001501;skeletal system development;TAS|GO:0003416;endochondral bone growth;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007517;muscle organ development;TAS|GO:0019538;protein metabolic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0051216;cartilage development;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;TAS		http://www.genecards.org/index.php?path=/Search/keyword/EVC	https://www.uniprot.org/uniprot/P57679	https://hpo.jax.org/app/browse/search?q=EVC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604831	http://www.informatics.jax.org/searchtool/Search.do?query=EVC&submit=Quick%0D%1451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EVC	rs1383180	0.301518	0.3080	0.3472	0.46	6	13	exonic	exonic	exonic	EVC	EVC	ENSG00000072840	nonsynonymous SNV	nonsynonymous SNV	unknown	EVC:NM_153717:exon12:c.G1727A:p.R576Q,	EVC:uc003gil.1:exon12:c.G1727A:p.R576Q,	UNKNOWN	Het;G>A	1067;60|46	Het;G>A	1381;57|60	Hom;G>A	2539;1|93
N	N	-	4	6596360	6596360	G	A	snp	nonsynonymous SNV	G958A	V320M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	MAN2B2	Man2b2	ENSG00000013288	mannosidase alpha class 2B member 2	chr4:6576902-6625089		longevity; Tobacco Use Disorder	 	Lysosomal oligosaccharide catabolism	GO:0005975;carbohydrate metabolic process;IEA|GO:0006013;mannose metabolic process;IBA|GO:0006517;protein deglycosylation;IBA|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004559;alpha-mannosidase activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0008496;mannan endo-1,6-alpha-mannosidase activity;TAS|GO:0015923;mannosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MAN2B2	https://www.uniprot.org/uniprot/Q9Y2E5			http://www.informatics.jax.org/searchtool/Search.do?query=MAN2B2&submit=Quick%0D%588ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAN2B2	rs2301795	0.455471	0.4909	0.4951	0.15	2	13	exonic	exonic	exonic	MAN2B2	MAN2B2	ENSG00000013288	nonsynonymous SNV	nonsynonymous SNV	unknown	MAN2B2:NM_015274:exon7:c.G958A:p.V320M,MAN2B2:NM_001292038:exon7:c.G805A:p.V269M,	MAN2B2:uc003gje.1:exon7:c.G958A:p.V320M,MAN2B2:uc011bwf.1:exon7:c.G805A:p.V269M,MAN2B2:uc003gjf.1:exon7:c.G958A:p.V320M,	UNKNOWN	Het;G>A	1575;94|73	Het;G>A	1671;73|80	Hom;G>A	4092;0|152
N	N	-	4	71068489	71068489	T	C	snp	nonsynonymous SNV	T665C	I222T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	ODAM	Odam	ENSG00000109205	odontogenic, ameloblast asssociated	chr4:71062213-71070293		Blood Pressure Determination	 	Amyloid fiber formation	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006954;inflammatory response;IDA|GO:0009611;response to wounding;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0031214;biomineral tissue development;IEA|GO:0032956;regulation of actin cytoskeleton organization;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEP|GO:0043547;positive regulation of GTPase activity;IMP|GO:0044267;cellular protein metabolic process;TAS|GO:0060054;positive regulation of epithelial cell proliferation involved in wound healing;IEP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0071944;cell periphery;IDA|GO:0099512;supramolecular fiber;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ODAM	https://www.uniprot.org/uniprot/A1E959		https://www.ncbi.nlm.nih.gov/omim/?term=614843	http://www.informatics.jax.org/searchtool/Search.do?query=ODAM&submit=Quick%0D%3832ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ODAM	rs3196714	0.283746	0.2546	0.2931	0.08	1	13	exonic	exonic	exonic	ODAM	ODAM	ENSG00000109205	nonsynonymous SNV	nonsynonymous SNV	unknown	ODAM:NM_017855:exon9:c.T665C:p.I222T,	ODAM:uc003hfc.3:exon9:c.T665C:p.I222T,	UNKNOWN	Het;T>C	339;24|14	Het;T>C	582;22|27	Hom;T>C	1477;0|55
N	N	-	4	72618323	72618323	G	T	snp	nonsynonymous SNV	C1307A	T436K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	GC	Gc	ENSG00000145321	GC, vitamin D binding protein	chr4:72607410-72669758	The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]	Coronary Artery Disease|Inflammation; asthma; body mass bone density glucose; null; Type 2 Diabetes| edema | rosiglitazone; Vitamin D; Type 2 diabetes; fasting plasma insulin levels; body mass C-reactive protein cortisol response insulin; COPD; Recurrence|Venous Thromboembolism; Pulmonary Disease, Chronic Obstructive; lung cancer; Brain Ischemia|Stroke; Erythrocytes; Alzheimer's disease ; Hyperparathyroidism, Secondary; chronic obstructive pulmonary disease; oral glucose tolerance; breast cancer; rheumatoid arthritis; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; Calcinosis|Coronary Artery Disease; diabetes, type 2; bone density; breast cancer ; cirrhosis, alcoholic; lung function; Graves disease; multiple sclerosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; bladder cancer; Asthma|; Bone Mineral Density; bone mineral density; Dengue Hemorrhagic Fever; lung function; PAH metabolites, urinary; Alzheimer's disease; chronic obstructive pulmonary disease/COPD; tuberculosis; Migraine Disorders; chronic obstructive pulmonary disease/COPD; osteoporosis, postmenopausal; prostate cancer; Vitamin D Deficiency; lung cancer 	Mice homozygous for disruption of this gene show an essentially normal phenotype.  However, they have an increased sensitivity to vitamin D deficiency in the diet.	Vitamin D (calciferol) metabolism	GO:0006810;transport;IEA|GO:0042359;vitamin D metabolic process;TAS|GO:0051180;vitamin transport;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005829;cytosol;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0003779;actin binding;IEA|GO:0005499;vitamin D binding;TAS|GO:0051183;vitamin transporter activity;IEA|GO:1902118;calcidiol binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GC	https://www.uniprot.org/uniprot/P02774		https://www.ncbi.nlm.nih.gov/omim/?term=139200	http://www.informatics.jax.org/searchtool/Search.do?query=GC&submit=Quick%0D%8721ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GC	rs4588	0.207867	0.2273	0.2528	0.08	1	12	exonic	exonic	exonic	GC	GC	ENSG00000145321	nonsynonymous SNV	nonsynonymous SNV	unknown	GC:NM_001204306:exon12:c.C1307A:p.T436K,GC:NM_000583:exon11:c.C1307A:p.T436K,GC:NM_001204307:exon12:c.C1364A:p.T455K,	GC:uc021xpb.1:exon12:c.C1307A:p.T436K,GC:uc003hge.3:exon11:c.C1307A:p.T436K,GC:uc010iif.3:exon12:c.C1364A:p.T455K,	UNKNOWN	Het;G>T	673;55|31	Het;G>T	421;42|25	Hom;G>T	3402;1|128
4_17.387_23.387	Chr4:7152608-8704080	0.68	4	7435058	7435058	C	T	snp	nonsynonymous SNV	G1549A	A517T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	PSAPL1	Psapl1	ENSG00000178597	prosaposin-like 1 (gene/pseudogene)	chr4:7432022-7436700	This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015]		 		GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IBA|GO:0019216;regulation of lipid metabolic process;IBA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0060736;prostate gland growth;IBA|GO:0060742;epithelial cell differentiation involved in prostate gland development;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0005829;cytosol;IDA	GO:0001664;G-protein coupled receptor binding;IBA|GO:0008047;enzyme activator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PSAPL1				http://www.informatics.jax.org/searchtool/Search.do?query=PSAPL1&submit=Quick%0D%14205ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSAPL1	rs60816800	0.103035	0.1316	0.1869	0.08	1	12	exonic	exonic	exonic	PSAPL1	PSAPL1	ENSG00000178597	nonsynonymous SNV	nonsynonymous SNV	unknown	PSAPL1:NM_001085382:exon1:c.G1549A:p.A517T,	PSAPL1:uc011bwj.2:exon1:c.G1549A:p.A517T,	UNKNOWN	Het;C>T	1349;42|55	Ref		Hom;C>T	1436;2|54
4_17.387_23.387	Chr4:7152608-8704080	0.68	4	7435486	7435486	G	T	snp	nonsynonymous SNV	C1121A	A374E	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(-)	PSAPL1	Psapl1	ENSG00000178597	prosaposin-like 1 (gene/pseudogene)	chr4:7432022-7436700	This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015]		 		GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IBA|GO:0019216;regulation of lipid metabolic process;IBA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0060736;prostate gland growth;IBA|GO:0060742;epithelial cell differentiation involved in prostate gland development;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0005829;cytosol;IDA	GO:0001664;G-protein coupled receptor binding;IBA|GO:0008047;enzyme activator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PSAPL1				http://www.informatics.jax.org/searchtool/Search.do?query=PSAPL1&submit=Quick%0D%14205ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSAPL1	rs61738677	0.0766773	0.1003	0.1107	0.08	1	13	exonic	exonic	exonic	PSAPL1	PSAPL1	ENSG00000178597	nonsynonymous SNV	nonsynonymous SNV	unknown	PSAPL1:NM_001085382:exon1:c.C1121A:p.A374E,	PSAPL1:uc011bwj.2:exon1:c.C1121A:p.A374E,	UNKNOWN	Het;G>T	2835;128|119	Ref		Hom;G>T	6911;0|249
4_17.387_23.387	Chr4:7152608-8704080	0.68	4	7435721	7435721	C	T	snp	nonsynonymous SNV	G886A	V296M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	PSAPL1	Psapl1	ENSG00000178597	prosaposin-like 1 (gene/pseudogene)	chr4:7432022-7436700	This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015]		 		GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IBA|GO:0019216;regulation of lipid metabolic process;IBA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0060736;prostate gland growth;IBA|GO:0060742;epithelial cell differentiation involved in prostate gland development;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0005829;cytosol;IDA	GO:0001664;G-protein coupled receptor binding;IBA|GO:0008047;enzyme activator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PSAPL1				http://www.informatics.jax.org/searchtool/Search.do?query=PSAPL1&submit=Quick%0D%14205ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSAPL1	rs6850206	0.129193	0.1716	0.1673	0.46	6	13	exonic	exonic	exonic	PSAPL1	PSAPL1	ENSG00000178597	nonsynonymous SNV	nonsynonymous SNV	unknown	PSAPL1:NM_001085382:exon1:c.G886A:p.V296M,	PSAPL1:uc011bwj.2:exon1:c.G886A:p.V296M,	UNKNOWN	Het;C>T	3608;150|155	Ref		Hom;C>T	5924;2|218
4_17.387_23.387	Chr4:7152608-8704080	0.68	4	7436239	7436239	C	T	snp	nonsynonymous SNV	G368A	R123H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	PSAPL1	Psapl1	ENSG00000178597	prosaposin-like 1 (gene/pseudogene)	chr4:7432022-7436700	This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015]		 		GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IBA|GO:0019216;regulation of lipid metabolic process;IBA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0060736;prostate gland growth;IBA|GO:0060742;epithelial cell differentiation involved in prostate gland development;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0005829;cytosol;IDA	GO:0001664;G-protein coupled receptor binding;IBA|GO:0008047;enzyme activator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PSAPL1				http://www.informatics.jax.org/searchtool/Search.do?query=PSAPL1&submit=Quick%0D%14205ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSAPL1	rs56402179	0.103435	0.1397	0.1620	0.17	2	12	exonic	exonic	exonic	PSAPL1	PSAPL1	ENSG00000178597	nonsynonymous SNV	nonsynonymous SNV	unknown	PSAPL1:NM_001085382:exon1:c.G368A:p.R123H,	PSAPL1:uc011bwj.2:exon1:c.G368A:p.R123H,	UNKNOWN	Het;C>T	2014;76|87	Ref		Hom;C>T	4443;0|160
N	N	-	4	76955914	76955914	T	C	snp	nonsynonymous SNV	A313G	S105G	polar,hydrophilic,neutral	aliphatic,neutral	CXCL11	Cxcl11	ENSG00000169248	C-X-C motif chemokine ligand 11	chr4:76954835-76962568	Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC. This antimicrobial gene is a CXC member of the chemokine superfamily. Its encoded protein induces a chemotactic response in activated T-cells and is the dominant ligand for CXC receptor-3. The gene encoding this protein contains 4 exons and at least three polyadenylation signals which might reflect cell-specific regulation of expression. IFN-gamma is a potent inducer of transcription of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]	Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; HIV	 	G alpha (i) signalling events	GO:0002690;positive regulation of leukocyte chemotaxis;IBA|GO:0006935;chemotaxis;TAS|GO:0006952;defense response;IEA|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007267;cell-cell signaling;TAS|GO:0010818;T cell chemotaxis;IMP|GO:0030816;positive regulation of cAMP metabolic process;IDA|GO:0032496;response to lipopolysaccharide;IBA|GO:0042127;regulation of cell proliferation;IMP|GO:0043950;positive regulation of cAMP-mediated signaling;IDA|GO:0051281;positive regulation of release of sequestered calcium ion into cytosol;IDA|GO:0070098;chemokine-mediated signaling pathway;IMP	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005623;cell;IEA	GO:0005125;cytokine activity;IEA|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;IDA|GO:0008201;heparin binding;IMP|GO:0048248;CXCR3 chemokine receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CXCL11			https://www.ncbi.nlm.nih.gov/omim/?term=604852	http://www.informatics.jax.org/searchtool/Search.do?query=CXCL11&submit=Quick%0D%12456ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CXCL11	rs6532111	0.690495	0.5946	0.6092	1	0	0	exonic	UTR3	UTR3	CXCL11	CXCL11(uc003hjm.3:c.*32A>G)	ENSG00000169248(ENST00000306621:c.*32A>G,ENST00000503860:c.*32A>G)	nonsynonymous SNV	Na	Na	CXCL11:NM_001302123:exon4:c.A313G:p.S105G,	Na	Na	Het;T>C	1139;35|52	Het;T>C	779;49|40	Hom;T>C	2588;2|99
N	N	-	4	77201487	77201487	C	T	snp	nonsynonymous SNV	C1097T	T366M	polar,hydrophilic,neutral	hydrophobic,neutral	FAM47E	Fam47e	ENSG00000189157	family with sequence similarity 47 member E	chr4:77135193-77204933		Tobacco Use Disorder	 		GO:0008150;biological_process;ND	GO:0005737;cytoplasm;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/FAM47E				http://www.informatics.jax.org/searchtool/Search.do?query=FAM47E&submit=Quick%0D%16193ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM47E	rs1036788	0.655152	0.7830	0.7284	0.15	2	13	exonic	exonic	exonic	FAM47E	FAM47E	ENSG00000189157	nonsynonymous SNV	nonsynonymous SNV	unknown	FAM47E:NM_001242936:exon7:c.C803T:p.T268M,FAM47E:NM_001136570:exon7:c.C1097T:p.T366M,	FAM47E:uc003hjx.3:exon7:c.C1097T:p.T366M,FAM47E:uc003hjv.3:exon7:c.C803T:p.T268M,	UNKNOWN	Het;C>T	1164;45|52	Het;C>T	937;55|46	Hom;C>T	2527;0|93
N	N	-	4	77660162	77660162	G	C	snp	nonsynonymous SNV	G836C	G279A	aliphatic,neutral	aliphatic,hydrophobic,neutral	SHROOM3	Shroom3	ENSG00000138771	shroom family member 3	chr4:77356253-77704406	This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011]	renal function and chronic kidney disease; Creatinine; Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; Coronary Artery Disease; melanoma; Anticonvulsants; Kidney Diseases; Hip; Tobacco Use Disorder; Esophagitis; Magnesium	Homozygous mutation of this locus results in failed neural tube closure leading to exencephaly, acrania, facial clefting, and spina bifida. Homozygotes develop to term but die either at birth or shortly thereafter.		GO:0000902;cell morphogenesis;ISS|GO:0001843;neural tube closure;IEA|GO:0002064;epithelial cell development;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;ISS|GO:0008360;regulation of cell shape;IEA|GO:0043482;cellular pigment accumulation;ISS|GO:0045176;apical protein localization;ISS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0016324;apical plasma membrane;ISS|GO:0030054;cell junction;IEA|GO:0043296;apical junction complex;ISS	GO:0003779;actin binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SHROOM3	https://www.uniprot.org/uniprot/Q8TF72		https://www.ncbi.nlm.nih.gov/omim/?term=604570	http://www.informatics.jax.org/searchtool/Search.do?query=SHROOM3&submit=Quick%0D%7798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHROOM3	rs344140	0.664936	0.7099	0.7160	0.15	2	13	exonic	exonic	exonic	SHROOM3	SHROOM3	ENSG00000138771	nonsynonymous SNV	nonsynonymous SNV	unknown	SHROOM3:NM_020859:exon5:c.G836C:p.G279A,	SHROOM3:uc011cbx.2:exon5:c.G836C:p.G279A,SHROOM3:uc011cbz.1:exon4:c.G308C:p.G103A,SHROOM3:uc003hkg.3:exon1:c.G170C:p.G57A,SHROOM3:uc003hkf.1:exon3:c.G461C:p.G154A,	UNKNOWN	Het;G>C	1557;124|71	Het;G>C	1737;109|83	Hom;G>C	5256;0|186
N	N	-	4	77660731	77660731	C	G	snp	nonsynonymous SNV	C1405G	P469A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	SHROOM3	Shroom3	ENSG00000138771	shroom family member 3	chr4:77356253-77704406	This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011]	renal function and chronic kidney disease; Creatinine; Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; Coronary Artery Disease; melanoma; Anticonvulsants; Kidney Diseases; Hip; Tobacco Use Disorder; Esophagitis; Magnesium	Homozygous mutation of this locus results in failed neural tube closure leading to exencephaly, acrania, facial clefting, and spina bifida. Homozygotes develop to term but die either at birth or shortly thereafter.		GO:0000902;cell morphogenesis;ISS|GO:0001843;neural tube closure;IEA|GO:0002064;epithelial cell development;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;ISS|GO:0008360;regulation of cell shape;IEA|GO:0043482;cellular pigment accumulation;ISS|GO:0045176;apical protein localization;ISS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0016324;apical plasma membrane;ISS|GO:0030054;cell junction;IEA|GO:0043296;apical junction complex;ISS	GO:0003779;actin binding;IEA|GO:0051015;actin filament binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SHROOM3	https://www.uniprot.org/uniprot/Q8TF72		https://www.ncbi.nlm.nih.gov/omim/?term=604570	http://www.informatics.jax.org/searchtool/Search.do?query=SHROOM3&submit=Quick%0D%7798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHROOM3	rs344141	0.438498	0.5555	0.5343	0.69	9	13	exonic	exonic	exonic	SHROOM3	SHROOM3	ENSG00000138771	nonsynonymous SNV	nonsynonymous SNV	unknown	SHROOM3:NM_020859:exon5:c.C1405G:p.P469A,	SHROOM3:uc011cbx.2:exon5:c.C1405G:p.P469A,SHROOM3:uc011cbz.1:exon4:c.C877G:p.P293A,SHROOM3:uc003hkg.3:exon1:c.C739G:p.P247A,SHROOM3:uc003hkf.1:exon3:c.C1030G:p.P344A,	UNKNOWN	Het;C>G	2206;94|91	Het;C>G	2736;79|117	Hom;C>G	5260;0|182
N	N	-	4	77818548	77818548	T	C	snp	nonsynonymous SNV	A455G	D152G	polar,hydrophilic,charged(-)	aliphatic,neutral	SOWAHB	Sowahb	ENSG00000186212	sosondowah ankyrin repeat domain family member B	chr4:77816082-77819002			Mice homozygous for an ENU-induced allele exhibit exencephaly and wavy neural tube.					http://www.genecards.org/index.php?path=/Search/keyword/SOWAHB				http://www.informatics.jax.org/searchtool/Search.do?query=SOWAHB&submit=Quick%0D%15598ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SOWAHB	rs2703129	0.333866	0.2011	0.3292	0.25	3	12	exonic	exonic	exonic	SOWAHB	SOWAHB	ENSG00000186212	nonsynonymous SNV	nonsynonymous SNV	unknown	SOWAHB:NM_001029870:exon1:c.A455G:p.D152G,	SOWAHB:uc003hki.3:exon1:c.A455G:p.D152G,	UNKNOWN	Het;T>C	732;32|30	Het;T>C	494;33|23	Hom;T>C	1240;4|47
N	N	-	4	88898941	88898941	C	T	snp	nonsynonymous SNV	C71T	A24V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SPP1	Spp1	ENSG00000118785	secreted phosphoprotein 1	chr4:88896819-88904562	The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Alzheimer's disease ; plasma HDL cholesterol (HDL-C) levels; ovarian cancer; Nephrolithiasis; Lupus Erythematosus, Systemic|Lupus Nephritis|Nephritis SLE|Systemic lupus erythematosus; hypertension; bone density; nephrolithiasis; Caffeine; hepatitis C, chronic; Type 2 Diabetes| edema | rosiglitazone; pseudoxanthoma elasticum; null; Muscular Dystrophy, Duchenne; lupus erythematosus; hepatitis B liver cancer; abdominal aortic aneurysm; Amyotrophic Lateral Sclerosis|Anoxia|; Carcinoma, Squamous Cell|Mouth Neoplasms; sarcoidosis; tuberculosis; normal variation; Bone Mineral Density; autoimmunity/lymphoproliferation; systemic lupus erythematosus; Carotid Artery Diseases|; Kidney Calculi; HIV; esophageal adenocarcinoma; intima-media thickness; Chronic renal failure|Kidney Failure, Chronic; periodontitis; Lupus Erythematosus, Systemic; Lewy Body Disease; Type 2 diabetes; multiple sclerosis; Diabetes Mellitus, Type 1|; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; asthma IgE; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; rheumatoid arthritis; bone density; coronary calcification; adult-onset primary open-angle glaucoma; Urolithiasis; urinary calculus; Glioma; atherosclerosis; kidney aging; Cleft Lip|Cleft Palate	Two alleles determine natural resistance/susceptibility to the lethal effects of the Gilliam strain of Rickettsia tsutsugamushi. Mice homozygous for a knock-out allele exhibit abnormal osteoclast physiology, macrophage recruitment, wound healing, response to injury, and inflammatory response.	Post-translational protein phosphorylation	GO:0001503;ossification;IEA|GO:0001649;osteoblast differentiation;IBA|GO:0006710;androgen catabolic process;IDA|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;IEA|GO:0007566;embryo implantation;TAS|GO:0010033;response to organic substance;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030154;cell differentiation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0031214;biomineral tissue development;IEA|GO:0033280;response to vitamin D;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045780;positive regulation of bone resorption;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046697;decidualization;TAS|GO:0048545;response to steroid hormone;IEA|GO:0048685;negative regulation of collateral sprouting of intact axon in response to injury;IEA|GO:0071394;cellular response to testosterone stimulus;IDA|GO:2000866;positive regulation of estradiol secretion;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IDA|GO:0031982;vesicle;IEA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0005125;cytokine activity;IEA|GO:0005515;protein binding;IPI|GO:0050840;extracellular matrix binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SPP1	https://www.uniprot.org/uniprot/P10451		https://www.ncbi.nlm.nih.gov/omim/?term=166490	http://www.informatics.jax.org/searchtool/Search.do?query=SPP1&submit=Quick%0D%5009ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPP1	rs11728697	0.423922	0	0.6372	1	0	0	exonic	exonic	intronic	SPP1	SPP1	ENSG00000118785	nonsynonymous SNV	nonsynonymous SNV	Na	SPP1:NM_001251830:exon4:c.C71T:p.A24V,	SPP1:uc011cde.2:exon4:c.C71T:p.A24V,	Na	Het;C>T	1247;79|65	Het;C>T	1273;36|59	Hom;C>T	2337;1|88
N	N	-	4	90169925	90169925	A	G	snp	nonsynonymous SNV	T1337C	V446A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GPRIN3	Gprin3	ENSG00000185477	GPRIN family member 3	chr4:90157537-90229161		Hip; Myocardial Infarction; Forced Expiratory Volume; Parkinson Disease	Mice homozygous for a null allele exhibit increased motivation for reward, decreased locomotor response to cocaine, increased dendritic arborization of medium spiny neurons and decreased striatal neuron excitability.					http://www.genecards.org/index.php?path=/Search/keyword/GPRIN3			https://www.ncbi.nlm.nih.gov/omim/?term=611241	http://www.informatics.jax.org/searchtool/Search.do?query=GPRIN3&submit=Quick%0D%15421ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPRIN3	rs7653897	0.623003	0.6033	0.5613	0.08	1	13	exonic	exonic	exonic	GPRIN3	GPRIN3	ENSG00000185477	nonsynonymous SNV	nonsynonymous SNV	unknown	GPRIN3:NM_198281:exon2:c.T1337C:p.V446A,	GPRIN3:uc003hsm.1:exon2:c.T1337C:p.V446A,GPRIN3:uc021xqb.1:exon1:c.T1337C:p.V446A,	UNKNOWN	Het;A>G	1821;101|81	Het;A>G	1272;62|59	Hom;A>G	4133;0|144
N	N	-	4	95173779	95173779	T	C	snp	nonsynonymous SNV	T902C	V301A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SMARCAD1	Smarcad1	ENSG00000163104	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	chr4:95128762-95212443	This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Cholesterol, LDL; Schizophrenia; Type 2 diabetes; Waist-Hip Ratio; Mental Disorders	Homozygotes for a targeted null mutation exhibit retarded growth, impaired fertility, skeletal dysplasias, and peri- and postnatal lethality. Mutant phenotypes are influenced by genetic background.		GO:0000018;regulation of DNA recombination;IEP|GO:0000729;DNA double-strand break processing;IMP|GO:0006281;DNA repair;IEA|GO:0006325;chromatin organization;NAS|GO:0006338;chromatin remodeling;NAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009117;nucleotide metabolic process;NAS|GO:0016569;covalent chromatin modification;IEA|GO:0043044;ATP-dependent chromatin remodeling;IMP|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0051260;protein homooligomerization;NAS|GO:0051304;chromosome separation;IMP|GO:0070932;histone H3 deacetylation;IMP|GO:0070933;histone H4 deacetylation;IMP	GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0016363;nuclear matrix;NAS|GO:0035861;site of double-strand break;IDA|GO:0043596;nuclear replication fork;IDA	GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;NAS|GO:0003677;DNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SMARCAD1		https://hpo.jax.org/app/browse/search?q=SMARCAD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612761	http://www.informatics.jax.org/searchtool/Search.do?query=SMARCAD1&submit=Quick%0D%10879ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCAD1	rs7439869	0.730631	0.7019	0.6931	0.23	3	13	exonic	exonic	exonic	SMARCAD1	SMARCAD1	ENSG00000163104	nonsynonymous SNV	nonsynonymous SNV	unknown	SMARCAD1:NM_001128430:exon9:c.T902C:p.V301A,SMARCAD1:NM_020159:exon9:c.T902C:p.V301A,SMARCAD1:NM_001128429:exon9:c.T902C:p.V301A,	SMARCAD1:uc003htb.4:exon9:c.T902C:p.V301A,SMARCAD1:uc003htd.4:exon9:c.T902C:p.V301A,SMARCAD1:uc003htc.4:exon9:c.T902C:p.V301A,SMARCAD1:uc010ila.3:exon10:c.T491C:p.V164A,	UNKNOWN	Het;T>C	332;26|15	Het;T>C	433;11|17	Hom;T>C	1050;0|38
N	N	-	5	108672946	108672946	C	T	snp	nonsynonymous SNV	G2113A	A705T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	PJA2	Pja2	ENSG00000198961	praja ring finger ubiquitin ligase 2	chr5:108670410-108745695			 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007616;long-term memory;ISS|GO:0010738;regulation of protein kinase A signaling;IMP|GO:0016567;protein ubiquitination;IDA|GO:0035329;hippo signaling;IEA	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0034236;protein kinase A catalytic subunit binding;IMP|GO:0034237;protein kinase A regulatory subunit binding;IMP|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PJA2				http://www.informatics.jax.org/searchtool/Search.do?query=PJA2&submit=Quick%0D%17102ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PJA2	rs246105	0.298922	0.2099	0.2756	0.15	2	13	exonic	exonic	exonic	PJA2	PJA2	ENSG00000198961	nonsynonymous SNV	nonsynonymous SNV	unknown	PJA2:NM_014819:exon10:c.G2113A:p.A705T,	PJA2:uc003kos.4:exon10:c.G2113A:p.A705T,	UNKNOWN	Het;C>T	453;59|25	Het;C>T	1058;28|48	Hom;C>T	2412;0|94
N	N	-	5	112176756	112176756	T	A	snp	nonsynonymous SNV	T3365A	V1122D	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(-)	APC	Apc	ENSG00000134982	APC, WNT signaling pathway regulator	chr5:112043195-112181936	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]	familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms	Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.	Ovarian tumor domain proteases	GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/APC	https://www.uniprot.org/uniprot/P25054	https://hpo.jax.org/app/browse/search?q=APC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611731	http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=APC	rs459552	0.865415	0.8263	0.7981	0.23	3	13	exonic	exonic	exonic	APC	APC	ENSG00000134982	nonsynonymous SNV	nonsynonymous SNV	unknown	APC:NM_000038:exon16:c.T5465A:p.V1822D,APC:NM_001127510:exon17:c.T5465A:p.V1822D,APC:NM_001127511:exon14:c.T5411A:p.V1804D,	APC:uc010jca.3:exon3:c.T3365A:p.V1122D,APC:uc003kpz.4:exon17:c.T5465A:p.V1822D,APC:uc010jbz.3:exon17:c.T4616A:p.V1539D,APC:uc011cvt.2:exon14:c.T5411A:p.V1804D,APC:uc003kpy.4:exon16:c.T5465A:p.V1822D,	UNKNOWN	Het;T>A	584;32|24	Het;T>A	1182;48|55	Hom;T>A	2315;0|78
N	N	-	5	112824048	112824048	T	TGCC	indel	nonframeshift substitution	64_64delinsGGCA	 	 	 	MCC	Mcc	ENSG00000171444	mutated in colorectal cancers	chr5:112357796-112824527	This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Anemia, Sickle Cell; Cholesterol; hypertension; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Body Height; Respiratory Function Tests	Mice homozygous for hypomorphic or null mutations are viable and fertile with no gross abnormalities.		GO:0007165;signal transduction;TAS|GO:0010633;negative regulation of epithelial cell migration;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0045184;establishment of protein localization;IDA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA	GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MCC			https://www.ncbi.nlm.nih.gov/omim/?term=159350	http://www.informatics.jax.org/searchtool/Search.do?query=MCC&submit=Quick%0D%12924ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCC	rs35336557	0.332069	0.0663	0.1800	1	0	0	exonic	exonic	exonic	MCC	MCC	ENSG00000171444	nonframeshift substitution	nonframeshift substitution	unknown	MCC:NM_001085377:exon1:c.64_64delinsGGCA,	MCC:uc003kql.4:exon1:c.64_64delinsGGCA,	UNKNOWN	Het;+GCC	907;21|24	Het;+GCC	457;17|13	Hom;+GCC	2048;1|48
N	N	-	5	132161294	132161294	G	A	snp	nonsynonymous SNV	C539T	P180L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	SHROOM1	Shroom1	ENSG00000164403	shroom family member 1	chr5:132157833-132166590	SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008]		 		GO:0000902;cell morphogenesis;ISS|GO:0051017;actin filament bundle assembly;ISS	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016460;myosin II complex;IEA	GO:0003779;actin binding;IEA|GO:0051015;actin filament binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SHROOM1			https://www.ncbi.nlm.nih.gov/omim/?term=611179	http://www.informatics.jax.org/searchtool/Search.do?query=SHROOM1&submit=Quick%0D%11299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHROOM1	rs2292030	0.10623	0.0839	0.3077	0.15	2	13	exonic	exonic	exonic	SHROOM1	SHROOM1	ENSG00000164403	nonsynonymous SNV	nonsynonymous SNV	unknown	SHROOM1:NM_133456:exon1:c.C539T:p.P180L,SHROOM1:NM_001172700:exon4:c.C539T:p.P180L,	SHROOM1:uc003kxy.2:exon1:c.C539T:p.P180L,SHROOM1:uc003kxx.3:exon4:c.C539T:p.P180L,	UNKNOWN	Het;G>A	398;27|18	Het;G>A	454;19|19	Hom;G>A	874;0|28
N	N	-	5	149008467	149008467	C	A	snp	nonsynonymous SNV	C1756A	P586T	hydrophobic,neutral	polar,hydrophilic,neutral	ARHGEF37	Arhgef37	ENSG00000183111	Rho guanine nucleotide exchange factor 37	chr5:148931510-149014531			 	G alpha (12/13) signalling events	GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37				http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37	rs3733662	0.160343	0.1165	0.1634	0.08	1	13	exonic	exonic	exonic	ARHGEF37	ARHGEF37	ENSG00000183111	nonsynonymous SNV	nonsynonymous SNV	unknown	ARHGEF37:NM_001001669:exon12:c.C1756A:p.P586T,	ARHGEF37:uc003lra.1:exon12:c.C1756A:p.P586T,	UNKNOWN	Het;C>A	678;50|35	Ref		Hom;C>A	2558;0|94
N	N	-	5	149008521	149008521	A	G	snp	nonsynonymous SNV	A1810G	M604V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	ARHGEF37	Arhgef37	ENSG00000183111	Rho guanine nucleotide exchange factor 37	chr5:148931510-149014531			 	G alpha (12/13) signalling events	GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37				http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37	rs1135093	0.69369	0.7105	0.6952	0.15	2	13	exonic	exonic	exonic	ARHGEF37	ARHGEF37	ENSG00000183111	nonsynonymous SNV	nonsynonymous SNV	unknown	ARHGEF37:NM_001001669:exon12:c.A1810G:p.M604V,	ARHGEF37:uc003lra.1:exon12:c.A1810G:p.M604V,	UNKNOWN	Het;A>G	472;34|18	Ref		Hom;A>G	1604;0|58
N	N	-	5	149374932	149374932	T	C	snp	nonsynonymous SNV	A980G	Q327R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	TIGD6	 	ENSG00000164296	tigger transposable element derived 6	chr5:149372681-149380730	The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. [provided by RefSeq, Oct 2009]		 			GO:0005634;nucleus;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TIGD6				http://www.informatics.jax.org/searchtool/Search.do?query=TIGD6&submit=Quick%0D%11266ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TIGD6	rs10875553	0.667532	0.7104	0.7538	0.15	2	13	exonic	exonic	exonic	TIGD6	TIGD6	ENSG00000164296	nonsynonymous SNV	nonsynonymous SNV	unknown	TIGD6:NM_001243253:exon2:c.A980G:p.Q327R,TIGD6:NM_030953:exon2:c.A980G:p.Q327R,	TIGD6:uc003lrj.3:exon2:c.A980G:p.Q327R,TIGD6:uc021yft.1:exon1:c.A980G:p.Q327R,TIGD6:uc003lri.3:exon2:c.A980G:p.Q327R,	UNKNOWN	Het;T>C	2909;68|114	Het;T>C	2253;77|91	Hom;T>C	5145;0|176
N	N	-	5	149406271	149406271	C	T	snp	nonsynonymous SNV	C1463T	A488V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	HMGXB3	Hmgxb3	ENSG00000113716	HMG-box containing 3	chr5:149379884-149432386	This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011]	HIV-1; Body Height	 		GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0016301;kinase activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/HMGXB3	https://www.uniprot.org/uniprot/Q12766			http://www.informatics.jax.org/searchtool/Search.do?query=HMGXB3&submit=Quick%0D%4396ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGXB3	rs6579767	0.801118	0.8491	0.7800	0.17	2	12	exonic	exonic	exonic	HMGXB3	HMGXB3	ENSG00000113716	nonsynonymous SNV	nonsynonymous SNV	unknown	HMGXB3:NM_014983:exon8:c.C1463T:p.A488V,	HMGXB3:uc003lrk.4:exon8:c.C1463T:p.A488V,	UNKNOWN	Het;C>T	832;29|37	Het;C>T	563;23|25	Hom;C>T	1281;0|46
N	N	-	5	150886882	150886882	G	A	snp	nonsynonymous SNV	C12350T	P4117L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	FAT2	Fat2	ENSG00000086570	FAT atypical cadherin 2	chr5:150883654-150948505	This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP	GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FAT2	https://www.uniprot.org/uniprot/Q9NYQ8	https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604269	http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2	rs1105168	0.776957	0.6536	0.6643	0.08	1	13	exonic	exonic	exonic	FAT2	FAT2	ENSG00000086570	nonsynonymous SNV	nonsynonymous SNV	unknown	FAT2:NM_001447:exon22:c.C12350T:p.P4117L,	FAT2:uc003lue.4:exon22:c.C12350T:p.P4117L,FAT2:uc003lud.4:exon10:c.C2171T:p.P724L,	UNKNOWN	Het;G>A	2499;139|115	Het;G>A	1958;126|89	Hom;G>A	5244;0|179
N	N	-	5	150901261	150901261	C	T	snp	nonsynonymous SNV	G10893A	M3631I	hydrophobic,neutral	aliphatic,hydrophobic,neutral	FAT2	Fat2	ENSG00000086570	FAT atypical cadherin 2	chr5:150883654-150948505	This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP	GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FAT2	https://www.uniprot.org/uniprot/Q9NYQ8	https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604269	http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2	rs6650971	0.76897	0.6837	0.7625	0.15	2	13	exonic	exonic	exonic	FAT2	FAT2	ENSG00000086570	nonsynonymous SNV	nonsynonymous SNV	unknown	FAT2:NM_001447:exon18:c.G10893A:p.M3631I,	FAT2:uc003lue.4:exon18:c.G10893A:p.M3631I,FAT2:uc003lud.4:exon6:c.G972A:p.M324I,	UNKNOWN	Het;C>T	2560;123|114	Het;C>T	2439;100|114	Hom;C>T	5983;0|212
N	N	-	5	150901613	150901613	A	G	snp	nonsynonymous SNV	T10541C	L3514S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	FAT2	Fat2	ENSG00000086570	FAT atypical cadherin 2	chr5:150883654-150948505	This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP	GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FAT2	https://www.uniprot.org/uniprot/Q9NYQ8	https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604269	http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2	rs2053028	0.775759	0.6900	0.7660	0.08	1	13	exonic	exonic	exonic	FAT2	FAT2	ENSG00000086570	nonsynonymous SNV	nonsynonymous SNV	unknown	FAT2:NM_001447:exon18:c.T10541C:p.L3514S,	FAT2:uc003lue.4:exon18:c.T10541C:p.L3514S,FAT2:uc003lud.4:exon6:c.T620C:p.L207S,	UNKNOWN	Het;A>G	1928;56|78	Het;A>G	2078;62|91	Hom;A>G	4370;0|155
N	N	-	5	150942969	150942969	G	A	snp	nonsynonymous SNV	C3491T	P1164L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	FAT2	Fat2	ENSG00000086570	FAT atypical cadherin 2	chr5:150883654-150948505	This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP	GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FAT2	https://www.uniprot.org/uniprot/Q9NYQ8	https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604269	http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2	rs2304053	0.363618	0.4522	0.4447	0.31	4	13	exonic	exonic	exonic	FAT2	FAT2	ENSG00000086570	nonsynonymous SNV	nonsynonymous SNV	unknown	FAT2:NM_001447:exon2:c.C3491T:p.P1164L,	FAT2:uc003lue.4:exon2:c.C3491T:p.P1164L,FAT2:uc010jhx.1:exon2:c.C3491T:p.P1164L,	UNKNOWN	Het;G>A	1530;70|67	Ref		Hom;G>A	3763;0|136
N	N	-	5	150945483	150945483	C	T	snp	nonsynonymous SNV	G3010A	G1004S	aliphatic,neutral	polar,hydrophilic,neutral	FAT2	Fat2	ENSG00000086570	FAT atypical cadherin 2	chr5:150883654-150948505	This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP	GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FAT2	https://www.uniprot.org/uniprot/Q9NYQ8	https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604269	http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2	rs3734055	0.402556	0.4774	0.4622	0.15	2	13	exonic	exonic	exonic	FAT2	FAT2	ENSG00000086570	nonsynonymous SNV	nonsynonymous SNV	unknown	FAT2:NM_001447:exon1:c.G3010A:p.G1004S,	FAT2:uc003lue.4:exon1:c.G3010A:p.G1004S,FAT2:uc010jhx.1:exon1:c.G3010A:p.G1004S,	UNKNOWN	Het;C>T	1565;82|65	Ref		Hom;C>T	3978;0|140
N	N	-	5	150946436	150946436	A	G	snp	nonsynonymous SNV	T2057C	F686S	aromatic,hydrophobic,neutral	polar,hydrophilic,neutral	FAT2	Fat2	ENSG00000086570	FAT atypical cadherin 2	chr5:150883654-150948505	This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP	GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FAT2	https://www.uniprot.org/uniprot/Q9NYQ8	https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604269	http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2	rs9324700	0.419928	0.4973	0.4679	0.23	3	13	exonic	exonic	exonic	FAT2	FAT2	ENSG00000086570	nonsynonymous SNV	nonsynonymous SNV	unknown	FAT2:NM_001447:exon1:c.T2057C:p.F686S,	FAT2:uc003lue.4:exon1:c.T2057C:p.F686S,FAT2:uc010jhx.1:exon1:c.T2057C:p.F686S,	UNKNOWN	Het;A>G	2046;77|76	Ref		Hom;A>G	3323;3|115
N	N	-	5	150946773	150946773	G	A	snp	nonsynonymous SNV	C1720T	R574C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	FAT2	Fat2	ENSG00000086570	FAT atypical cadherin 2	chr5:150883654-150948505	This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP	GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FAT2	https://www.uniprot.org/uniprot/Q9NYQ8	https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604269	http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2	rs1432862	0.417931	0.4949	0.4673	0.62	8	13	exonic	exonic	exonic	FAT2	FAT2	ENSG00000086570	nonsynonymous SNV	nonsynonymous SNV	unknown	FAT2:NM_001447:exon1:c.C1720T:p.R574C,	FAT2:uc003lue.4:exon1:c.C1720T:p.R574C,FAT2:uc010jhx.1:exon1:c.C1720T:p.R574C,	UNKNOWN	Het;G>A	1257;64|53	Ref		Hom;G>A	3036;0|108
N	N	-	5	153413390	153413390	C	T	snp	nonsynonymous SNV	G364A	G122S	aliphatic,neutral	polar,hydrophilic,neutral	FAM114A2	Fam114a2	ENSG00000055147	family with sequence similarity 114 member A2	chr5:153369688-153418496			 	Signaling by BRAF and RAF fusions	GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND	GO:0017076;purine nucleotide binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/FAM114A2	https://www.uniprot.org/uniprot/Q9NRY5			http://www.informatics.jax.org/searchtool/Search.do?query=FAM114A2&submit=Quick%0D%992ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM114A2	rs2578377	0.716254	0.6318	0.6749	0.23	3	13	exonic	exonic	exonic	FAM114A2	FAM114A2	ENSG00000055147	nonsynonymous SNV	nonsynonymous SNV	unknown	FAM114A2:NM_018691:exon4:c.G364A:p.G122S,	FAM114A2:uc003lvd.3:exon5:c.G364A:p.G122S,FAM114A2:uc003lvb.3:exon4:c.G364A:p.G122S,FAM114A2:uc003lvc.3:exon4:c.G364A:p.G122S,FAM114A2:uc011dda.2:exon3:c.G154A:p.G52S,	UNKNOWN	Het;C>T	342;37|18	Ref		Hom;C>T	1874;2|75
N	N	-	5	156479557	156479572	GTTGGAACAGTCGTCA	G	indel	nonframeshift substitution	473_488C	 	 	 	HAVCR1		ENSG00000113249	hepatitis A virus cellular receptor 1	chr5:156456424-156486130	The protein encoded by this gene is a membrane receptor for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allergic diseases. The reference genome represents an allele that retains a MTTVP amino acid segment that confers protection against atopy in HHAV seropositive individuals. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 12 and 19. [provided by RefSeq, Apr 2015]	Hepatitis C|Remission, Spontaneous; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; asthma; Acquired Immunodeficiency Syndrome|HIV Infections|[X]Human immunodeficiency virus disease; dermatitis and eczema; atopic asthma; rheumatoid arthritis; respiratory syncytial virus bronchiolitis; Asthma|; multiple sclerosis; Malaria, Cerebral; Hay fever|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal; Asthma|drug therapy|; Type 2 diabetes; LDL cholesterol; Arthritis, Rheumatoid|Autoimmune Diseases|Disease Susceptibility|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	Mice homozygous for a knock-out allele exhibit normal response to S. mansoni egg challenge. Mice homozygous for an allele lacking the mucin domain display impaired regulatory B cell function and systemic autoimmunity.		GO:0016032;viral process;IEA|GO:0046718;viral entry into host cell;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IDA	GO:0001618;virus receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HAVCR1	https://www.uniprot.org/uniprot/Q96D42		https://www.ncbi.nlm.nih.gov/omim/?term=606518	http://www.informatics.jax.org/searchtool/Search.do?query=HAVCR1&submit=Quick%0D%4335ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HAVCR1	rs141023871	0.582268	0.5725	0.6313	1	0	0	exonic	exonic	exonic	HAVCR1	HAVCR1	ENSG00000113249	nonframeshift substitution	nonframeshift substitution	unknown	HAVCR1:NM_001173393:exon4:c.473_488C,HAVCR1:NM_001099414:exon4:c.473_488C,HAVCR1:NM_012206:exon3:c.473_488C,	HAVCR1:uc021ygj.1:exon4:c.473_488C,HAVCR1:uc010jij.1:exon4:c.473_488C,HAVCR1:uc011ddm.2:exon4:c.473_488C,HAVCR1:uc003lwi.2:exon3:c.473_488C,	UNKNOWN	Het;-TTGGAACAGTCGTCA	8553;298|233	Het;-TTGGAACAGTCGTCA	7518;244|205	Hom;-TTGGAACAGTCGTCA	21979;4|509
N	N	-	5	176916516	176916516	C	T	snp	nonsynonymous SNV	G685A	G229S	aliphatic,neutral	polar,hydrophilic,neutral	PDLIM7	Pdlim7	ENSG00000196923	PDZ and LIM domain 7	chr5:176910395-176924607	The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]		Mice homozygous for a gene trap allele exhibit heart defects and hemostatic dysfunction.	RET signaling	GO:0001503;ossification;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0030036;actin cytoskeleton organization;IEA|GO:0030154;cell differentiation;IEA|GO:0045669;positive regulation of osteoblast differentiation;IEA	GO:0001725;stress fiber;IEA|GO:0001726;ruffle;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDLIM7			https://www.ncbi.nlm.nih.gov/omim/?term=605903	http://www.informatics.jax.org/searchtool/Search.do?query=PDLIM7&submit=Quick%0D%16497ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDLIM7	rs335462	0.4375	0.4757	0.5012	0.18	2	11	exonic	exonic	exonic	PDLIM7	PDLIM7	ENSG00000196923	synonymous SNV	nonsynonymous SNV	unknown	PDLIM7:NM_005451:exon9:c.G747A:p.P249P,PDLIM7:NM_203352:exon9:c.G645A:p.P215P,	PDLIM7:uc003mhf.3:exon8:c.G685A:p.G229S,	UNKNOWN	Het;C>T	1872;82|81	Het;C>T	1728;82|79	Hom;C>T	5036;2|185
N	N	-	5	176930171	176930174	AGAG	A	indel	nonframeshift substitution	865_868T	 	 	 	DOK3	Dok3	ENSG00000146094	docking protein 3	chr5:176928908-176938275			Mice homozygous for a knock-out allele exhibit increased incidence of lung adenocarcinomas. Mice for another null alelle show increased IgM antibodies and have enchanced humoral immune responses to T cell-independent type I and II antigens.	Neutrophil degranulation	GO:0007265;Ras protein signal transduction;IEA|GO:0043312;neutrophil degranulation;TAS	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0101003;ficolin-1-rich granule membrane;TAS	GO:0005158;insulin receptor binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DOK3	https://www.uniprot.org/uniprot/Q7L591		https://www.ncbi.nlm.nih.gov/omim/?term=611435	http://www.informatics.jax.org/searchtool/Search.do?query=DOK3&submit=Quick%0D%8838ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOK3	rs138153794	0.533946	0.4996	0.5665	1	0	0	exonic	exonic	exonic	DOK3	DOK3	ENSG00000146094	nonframeshift substitution	nonframeshift substitution	unknown	DOK3:NM_001144875:exon6:c.865_868T,DOK3:NM_001144876:exon5:c.559_562T,	DOK3:uc003mhj.4:exon5:c.559_562T,DOK3:uc003mhh.4:exon4:c.523_526T,DOK3:uc003mhi.4:exon6:c.865_868T,	UNKNOWN	Het;-GAG	3428;104|90	Het;-GAG	2367;84|65	Hom;-GAG	8568;1|197
N	N	-	5	177547336	177547336	G	A	snp	nonsynonymous SNV	G488A	R163Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	N4BP3	N4bp3	ENSG00000145911	NEDD4 binding protein 3	chr5:177540444-177553088			 			GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/N4BP3	https://www.uniprot.org/uniprot/O15049			http://www.informatics.jax.org/searchtool/Search.do?query=N4BP3&submit=Quick%0D%8806ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=N4BP3	rs3812082	0.147963	0.1673	0.2280	0.08	1	13	exonic	exonic	exonic	N4BP3	N4BP3	ENSG00000145911	nonsynonymous SNV	nonsynonymous SNV	unknown	N4BP3:NM_015111:exon3:c.G488A:p.R163Q,	N4BP3:uc003mik.1:exon3:c.G488A:p.R163Q,	UNKNOWN	Het;G>A	747;52|35	Het;G>A	946;47|37	Hom;G>A	2121;0|66
N	N	-	5	178421770	178421770	T	G	snp	nonsynonymous SNV	A176C	Q59P	polar,hydrophilic,neutral	hydrophobic,neutral	GRM6	Grm6	ENSG00000113262	glutamate metabotropic receptor 6	chr5:178405328-178423207	L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Feb 2012]	Myopia; Retinal Diseases; Weight Gain; Heroin Dependence; Opioid-Related Disorders; Tobacco Use Disorder; Night Blindness|Retinal Diseases; several psychiatric disorders	Homozygous null mice show loss of ON responses without significant alteration of OFF responses in visual transmission or changes in visual behavioral responses. ENU-induced mutant mice have an ERG that lacks the rod b-wave and scotopic threshold response, while the cone ERG is of large amplitude.	Class C/3 (Metabotropic glutamate/pheromone receptors)	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007196;adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway;IBA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;TAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007601;visual perception;IEA|GO:0007626;locomotory behavior;IEA|GO:0009584;detection of visible light;TAS|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP|GO:0050953;sensory perception of light stimulus;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IBA|GO:0060041;retina development in camera-type eye;IEA|GO:0090280;positive regulation of calcium ion import;IMP	GO:0000139;Golgi membrane;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0035841;new growing cell tip;IEA|GO:0042734;presynaptic membrane;IBA|GO:0042995;cell projection;IEA	GO:0001640;adenylate cyclase inhibiting G-protein coupled glutamate receptor activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008066;glutamate receptor activity;IMP|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GRM6	https://www.uniprot.org/uniprot/O15303	https://hpo.jax.org/app/browse/search?q=GRM6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604096	http://www.informatics.jax.org/searchtool/Search.do?query=GRM6&submit=Quick%0D%4336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRM6	rs2645329	0.551917	0.6359	0.4891	0.17	2	12	exonic	exonic	exonic	GRM6	GRM6	ENSG00000113262	nonsynonymous SNV	nonsynonymous SNV	unknown	GRM6:NM_000843:exon1:c.A176C:p.Q59P,	GRM6:uc003mjr.3:exon1:c.A176C:p.Q59P,	UNKNOWN	Het;T>G	60;12|5	Het;T>G	189;10|10	Hom;T>G	452;0|17
N	N	-	5	180338368	180338368	A	G	snp	nonsynonymous SNV	A427G	T143A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	BTNL8	 	ENSG00000113303	butyrophilin like 8	chr5:180326077-180377906			 	Butyrophilin (BTN) family interactions	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BTNL8	https://www.uniprot.org/uniprot/Q6UX41		https://www.ncbi.nlm.nih.gov/omim/?term=615606	http://www.informatics.jax.org/searchtool/Search.do?query=BTNL8&submit=Quick%0D%4345ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL8	rs2276995	0.432508	0.4678	0.3796	0.08	1	12	exonic	exonic	exonic	BTNL8	BTNL8	ENSG00000113303	nonsynonymous SNV	nonsynonymous SNV	unknown	BTNL8:NM_001159707:exon2:c.A79G:p.T27A,BTNL8:NM_001040462:exon3:c.A427G:p.T143A,BTNL8:NM_001159709:exon3:c.A52G:p.T18A,BTNL8:NM_024850:exon3:c.A427G:p.T143A,BTNL8:NM_001159708:exon3:c.A427G:p.T143A,	BTNL8:uc010jll.3:exon3:c.A427G:p.T143A,BTNL8:uc003mmp.3:exon3:c.A427G:p.T143A,BTNL8:uc003mmq.3:exon3:c.A427G:p.T143A,BTNL8:uc011dhg.2:exon3:c.A52G:p.T18A,BTNL8:uc010jlm.3:exon2:c.A79G:p.T27A,	UNKNOWN	Het;A>G	1159;50|50	Het;A>G	657;44|34	Hom;A>G	1716;0|63
N	N	-	5	180377470	180377470	G	A	snp	nonsynonymous SNV	G877A	A293T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	BTNL8	 	ENSG00000113303	butyrophilin like 8	chr5:180326077-180377906			 	Butyrophilin (BTN) family interactions	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BTNL8	https://www.uniprot.org/uniprot/Q6UX41		https://www.ncbi.nlm.nih.gov/omim/?term=615606	http://www.informatics.jax.org/searchtool/Search.do?query=BTNL8&submit=Quick%0D%4345ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL8	rs113820381	0.242212	0.2641	0.1683	0.08	1	12	exonic	exonic	exonic	BTNL8	BTNL8	ENSG00000113303	nonsynonymous SNV	nonsynonymous SNV	unknown	BTNL8:NM_001159707:exon7:c.G1081A:p.A361T,BTNL8:NM_001040462:exon8:c.G1429A:p.A477T,BTNL8:NM_001159709:exon8:c.G1054A:p.A352T,BTNL8:NM_001159710:exon7:c.G877A:p.A293T,	BTNL8:uc011dhh.2:exon7:c.G877A:p.A293T,BTNL8:uc003mmp.3:exon8:c.G1429A:p.A477T,BTNL8:uc011dhg.2:exon8:c.G1054A:p.A352T,BTNL8:uc010jlm.3:exon7:c.G1081A:p.A361T,	UNKNOWN	Het;G>A	2060;58|84	Ref		Hom;G>A	1779;0|66
N	N	-	5	5146335	5146335	C	G	snp	nonsynonymous SNV	C268G	P90A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	ADAMTS16	Adamts16	ENSG00000145536	ADAM metallopeptidase with thrombospondin type 1 motif 16	chr5:5140443-5320417	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016]	Attention Deficit Disorder with Hyperactivity; Metabolism; Tobacco Use Disorder; Hemoglobin A, Glycosylated; Amyotrophic Lateral Sclerosis; Parkinson Disease	 	O-glycosylation of TSR domain-containing proteins	GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0003073;regulation of systemic arterial blood pressure;IEA|GO:0006508;proteolysis;IEA|GO:1902017;regulation of cilium assembly;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS16	https://www.uniprot.org/uniprot/Q8TE57		https://www.ncbi.nlm.nih.gov/omim/?term=607510	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS16&submit=Quick%0D%8751ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS16	rs2086310	0.695487	0.7592	0.7760	0.08	1	13	exonic	exonic	exonic	ADAMTS16	ADAMTS16	ENSG00000145536	nonsynonymous SNV	nonsynonymous SNV	unknown	ADAMTS16:NM_139056:exon3:c.C268G:p.P90A,	ADAMTS16:uc003jdk.1:exon3:c.C268G:p.P90A,ADAMTS16:uc003jdl.3:exon3:c.C268G:p.P90A,ADAMTS16:uc003jdj.1:exon3:c.C268G:p.P90A,	UNKNOWN	Het;C>G	1398;75|59	Het;C>G	1276;51|56	Hom;C>G	3418;0|117
N	N	-	5	78573790	78573790	A	T	snp	nonsynonymous SNV	A28T	M10L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	JMY	Jmy	ENSG00000152409	junction mediating and regulatory protein, p53 cofactor	chr5:78532012-78623038		breast cancer 	 	Regulation of TP53 Activity through Methylation	GO:0006281;DNA repair;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;ISS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;IBA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IBA|GO:0043065;positive regulation of apoptotic process;IBA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IBA|GO:0070060;'de novo' actin filament nucleation;IBA|GO:0070358;actin polymerization-dependent cell motility;ISS|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IBA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0031252;cell leading edge;IDA	GO:0003713;transcription coactivator activity;IBA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0071933;Arp2/3 complex binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/JMY	https://www.uniprot.org/uniprot/Q8N9B5		https://www.ncbi.nlm.nih.gov/omim/?term=604279	http://www.informatics.jax.org/searchtool/Search.do?query=JMY&submit=Quick%0D%9543ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=JMY	rs13182512	0.480631	0.5482	0.5465	0.15	2	13	exonic	exonic	exonic	JMY	JMY	ENSG00000152409	nonsynonymous SNV	nonsynonymous SNV	unknown	JMY:NM_152405:exon2:c.A1090T:p.M364L,	JMY:uc003kfw.1:exon1:c.A28T:p.M10L,JMY:uc003kfx.4:exon2:c.A1090T:p.M364L,	UNKNOWN	Het;A>T	1385;84|61	Het;A>T	1050;71|53	Hom;A>T	3448;0|133
N	N	-	5	81354389	81354389	T	C	snp	nonsynonymous SNV	T184C	S62P	polar,hydrophilic,neutral	hydrophobic,neutral	ATG10	Atg10	ENSG00000152348	autophagy related 10	chr5:81267844-81572676	Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008]	Exercise Test; Tobacco Use Disorder	 	Macroautophagy	GO:0006497;protein lipidation;ISS|GO:0006810;transport;IEA|GO:0006914;autophagy;IMP|GO:0006983;ER overload response;IMP|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0031401;positive regulation of protein modification process;ISS|GO:0032446;protein modification by small protein conjugation;IDA	GO:0005622;intracellular;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0016874;ligase activity;IEA|GO:0019777;Atg12 transferase activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ATG10	https://www.uniprot.org/uniprot/Q9H0Y0		https://www.ncbi.nlm.nih.gov/omim/?term=610800	http://www.informatics.jax.org/searchtool/Search.do?query=ATG10&submit=Quick%0D%9536ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG10	rs3734114	0.190096	0.1612	0.2092	0.08	1	13	exonic	exonic	exonic	ATG10	ATG10	ENSG00000152348	nonsynonymous SNV	nonsynonymous SNV	unknown	ATG10:NM_031482:exon3:c.T184C:p.S62P,ATG10:NM_001131028:exon4:c.T184C:p.S62P,	ATG10:uc003khr.3:exon3:c.T184C:p.S62P,ATG10:uc003khs.3:exon4:c.T184C:p.S62P,ATG10:uc003khq.2:exon3:c.T184C:p.S62P,	UNKNOWN	Het;T>C	1323;60|59	Het;T>C	1282;86|59	Hom;T>C	4741;0|177
N	N	-	6	109586062	109586062	C	T	snp	nonsynonymous SNV	C1255T	P419S	hydrophobic,neutral	polar,hydrophilic,neutral	LOC100996634																		rs949882	0.400359	0	0.3278	1	0	0	exonic	exonic	intergenic	LOC100996634	LOC100996634	NONE(dist=NONE),NONE(dist=NONE)	nonsynonymous SNV	nonsynonymous SNV	Na	LOC100996634:NM_001277339:exon8:c.C1255T:p.P419S,	LOC100996634:uc003pta.2:exon8:c.C1255T:p.P419S,	Na	Het;C>T	1771;116|88	Het;C>T	1961;127|98	Hom;C>T	5782;0|220
N	N	-	6	116600774	116600774	C	G	snp	nonsynonymous SNV	G220C	A74P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	TSPYL1	Tspyl1	ENSG00000189241	TSPY like 1	chr6:116597741-116601066	The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]	sudden infant death; Gonadal Dysgenesis, 46,XY|Infertility, Male|Sudden Infant Death	 		GO:0006334;nucleosome assembly;IEA|GO:0008150;biological_process;ND	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA	GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSPYL1		https://hpo.jax.org/app/browse/search?q=TSPYL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604714	http://www.informatics.jax.org/searchtool/Search.do?query=TSPYL1&submit=Quick%0D%16209ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPYL1	rs3749895	0.464257	0.2937	0.3822	0.08	1	12	exonic	exonic	exonic	TSPYL1	TSPYL1	ENSG00000189241	nonsynonymous SNV	nonsynonymous SNV	unknown	TSPYL1:NM_003309:exon1:c.G220C:p.A74P,	TSPYL1:uc003pwp.4:exon1:c.G220C:p.A74P,	UNKNOWN	Het;C>G	1995;49|77	Het;C>G	1328;50|55	Hom;C>G	3568;0|125
N	N	-	6	116600810	116600810	G	A	snp	nonsynonymous SNV	C184T	P62S	hydrophobic,neutral	polar,hydrophilic,neutral	TSPYL1	Tspyl1	ENSG00000189241	TSPY like 1	chr6:116597741-116601066	The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]	sudden infant death; Gonadal Dysgenesis, 46,XY|Infertility, Male|Sudden Infant Death	 		GO:0006334;nucleosome assembly;IEA|GO:0008150;biological_process;ND	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA	GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSPYL1		https://hpo.jax.org/app/browse/search?q=TSPYL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604714	http://www.informatics.jax.org/searchtool/Search.do?query=TSPYL1&submit=Quick%0D%16209ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPYL1	rs3828743	0.34984	0.1901	0.3238	0.17	2	12	exonic	exonic	exonic	TSPYL1	TSPYL1	ENSG00000189241	nonsynonymous SNV	nonsynonymous SNV	unknown	TSPYL1:NM_003309:exon1:c.C184T:p.P62S,	TSPYL1:uc003pwp.4:exon1:c.C184T:p.P62S,	UNKNOWN	Het;G>A	1573;27|59	Het;G>A	1232;38|50	Hom;G>A	2952;0|103
N	N	-	6	118887303	118887303	T	C	snp	nonsynonymous SNV	A103G	S35G	polar,hydrophilic,neutral	aliphatic,neutral	CEP85L	Cep85l	ENSG00000111860	centrosomal protein 85 like	chr6:118781935-119031238	The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]	Carcinoma, Renal Cell; QT interval; Electrocardiography; Cardiac structure and function; Tobacco Use Disorder; Cardiovascular Diseases|Ventricular Dysfunction, Left	 			GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CEP85L	https://www.uniprot.org/uniprot/Q5SZL2			http://www.informatics.jax.org/searchtool/Search.do?query=CEP85L&submit=Quick%0D%4150ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP85L	rs3734381	0.436901	0.5352	0.4855	0.08	1	13	exonic	exonic	exonic	CEP85L	CEP85L	ENSG00000111860	nonsynonymous SNV	nonsynonymous SNV	unknown	CEP85L:NM_206921:exon3:c.A409G:p.S137G,CEP85L:NM_001178035:exon4:c.A418G:p.S140G,CEP85L:NM_001042475:exon3:c.A409G:p.S137G,	CEP85L:uc011ebj.2:exon3:c.A103G:p.S35G,CEP85L:uc003pyc.3:exon5:c.A418G:p.S140G,CEP85L:uc003pyb.3:exon3:c.A409G:p.S137G,CEP85L:uc003pxz.2:exon3:c.A409G:p.S137G,CEP85L:uc003pya.2:exon4:c.A418G:p.S140G,CEP85L:uc011ebl.1:exon3:c.A103G:p.S35G,	UNKNOWN	Het;T>C	3129;126|137	Het;T>C	1932;82|87	Hom;T>C	5972;0|206
N	N	-	6	12120588	12120588	C	T	snp	nonsynonymous SNV	C560T	T187M	polar,hydrophilic,neutral	hydrophobic,neutral	HIVEP1	Hivep1	ENSG00000095951	human immunodeficiency virus type I enhancer binding protein 1	chr6:12008995-12165232	This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011]	Benzodiazepines; Stroke; Venous Thrombosis; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Alcoholism; Cholesterol	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0016604;nuclear body;IDA	GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IEA|GO:0001206;transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIVEP1	https://www.uniprot.org/uniprot/P15822		https://www.ncbi.nlm.nih.gov/omim/?term=194540	http://www.informatics.jax.org/searchtool/Search.do?query=HIVEP1&submit=Quick%0D%2265ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIVEP1	rs2228209	0.207468	0.2560	0.3001	0.38	5	13	exonic	exonic	exonic	HIVEP1	HIVEP1	ENSG00000095951	nonsynonymous SNV	nonsynonymous SNV	unknown	HIVEP1:NM_002114:exon4:c.C560T:p.T187M,	HIVEP1:uc003nac.3:exon4:c.C560T:p.T187M,	UNKNOWN	Het;C>T	1524;60|66	Het;C>T	1489;72|69	Hom;C>T	3492;0|127
N	N	-	6	12122174	12122174	A	G	snp	nonsynonymous SNV	A2146G	T716A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	HIVEP1	Hivep1	ENSG00000095951	human immunodeficiency virus type I enhancer binding protein 1	chr6:12008995-12165232	This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011]	Benzodiazepines; Stroke; Venous Thrombosis; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Alcoholism; Cholesterol	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0016604;nuclear body;IDA	GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IEA|GO:0001206;transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIVEP1	https://www.uniprot.org/uniprot/P15822		https://www.ncbi.nlm.nih.gov/omim/?term=194540	http://www.informatics.jax.org/searchtool/Search.do?query=HIVEP1&submit=Quick%0D%2265ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIVEP1	rs2228210	0.208267	0.2556	0.3003	0.08	1	13	exonic	exonic	exonic	HIVEP1	HIVEP1	ENSG00000095951	nonsynonymous SNV	nonsynonymous SNV	unknown	HIVEP1:NM_002114:exon4:c.A2146G:p.T716A,	HIVEP1:uc003nac.3:exon4:c.A2146G:p.T716A,	UNKNOWN	Het;A>G	2240;121|105	Het;A>G	1958;103|85	Hom;A>G	4534;4|168
N	N	-	6	12124855	12124855	G	A	snp	nonsynonymous SNV	G4827A	M1609I	hydrophobic,neutral	aliphatic,hydrophobic,neutral	HIVEP1	Hivep1	ENSG00000095951	human immunodeficiency virus type I enhancer binding protein 1	chr6:12008995-12165232	This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011]	Benzodiazepines; Stroke; Venous Thrombosis; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Alcoholism; Cholesterol	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0016604;nuclear body;IDA	GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IEA|GO:0001206;transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIVEP1	https://www.uniprot.org/uniprot/P15822		https://www.ncbi.nlm.nih.gov/omim/?term=194540	http://www.informatics.jax.org/searchtool/Search.do?query=HIVEP1&submit=Quick%0D%2265ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIVEP1	rs2228213	0.217053	0.2602	0.2992	0.17	2	12	exonic	exonic	exonic	HIVEP1	HIVEP1	ENSG00000095951	nonsynonymous SNV	nonsynonymous SNV	unknown	HIVEP1:NM_002114:exon4:c.G4827A:p.M1609I,	HIVEP1:uc003nac.3:exon4:c.G4827A:p.M1609I,	UNKNOWN	Het;G>A	1694;91|77	Het;G>A	1915;81|86	Hom;G>A	4512;2|165
N	N	-	6	121577370	121577370	T	C	snp	nonsynonymous SNV	A1795G	I599V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	C6orf170																		rs7745023	0.260783	0.4403	0.4449	0.08	1	13	exonic	exonic	exonic	TBC1D32	C6orf170	ENSG00000146350	nonsynonymous SNV	nonsynonymous SNV	unknown	TBC1D32:NM_152730:exon16:c.A1795G:p.I599V,	C6orf170:uc003pyo.1:exon16:c.A1795G:p.I599V,C6orf170:uc003pyp.1:exon5:c.A352G:p.I118V,	UNKNOWN	Het;T>C	1115;47|50	Het;T>C	1372;54|57	Hom;T>C	4211;2|158
N	N	-	6	4735035	4735035	T	C	snp	nonsynonymous SNV	T143C	V48A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CDYL	Cdyl	ENSG00000153046	chromodomain Y like	chr6:4706393-4955785	Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]	thyroid cancer; Pulmonary Disease, Chronic Obstructive; Ocular Physiological Phenomena; Potassium	Conditional homozygous knockout in the cerebral cortex affects neuronal migration and results in increased susceptibility to pharmacologically induced seizures.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA	GO:0003714;transcription corepressor activity;IMP|GO:0003824;catalytic activity;IEA|GO:0004402;histone acetyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0035064;methylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDYL	https://www.uniprot.org/uniprot/Q9Y232		https://www.ncbi.nlm.nih.gov/omim/?term=603778	http://www.informatics.jax.org/searchtool/Search.do?query=CDYL&submit=Quick%0D%186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL	rs13196069	0.272963	0.2899	0.2727	0.09	1	11	intergenic	exonic	exonic	NONE(dist=NONE),NONE(dist=NONE)	CDYL	ENSG00000153046	Na	nonsynonymous SNV	unknown	Na	CDYL:uc003mwi.3:exon3:c.T143C:p.V48A,	UNKNOWN	Het;T>C	1196;40|54	Het;T>C	736;27|35	Hom;T>C	1881;2|73
N	N	-	6	4735071	4735071	C	G	snp	nonsynonymous SNV	C179G	A60G	aliphatic,hydrophobic,neutral	aliphatic,neutral	CDYL	Cdyl	ENSG00000153046	chromodomain Y like	chr6:4706393-4955785	Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]	thyroid cancer; Pulmonary Disease, Chronic Obstructive; Ocular Physiological Phenomena; Potassium	Conditional homozygous knockout in the cerebral cortex affects neuronal migration and results in increased susceptibility to pharmacologically induced seizures.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA	GO:0003714;transcription corepressor activity;IMP|GO:0003824;catalytic activity;IEA|GO:0004402;histone acetyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0035064;methylated histone binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDYL	https://www.uniprot.org/uniprot/Q9Y232		https://www.ncbi.nlm.nih.gov/omim/?term=603778	http://www.informatics.jax.org/searchtool/Search.do?query=CDYL&submit=Quick%0D%186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL	rs28360500	0.264776	0.2765	0.2696	0.09	1	11	intergenic	exonic	exonic	NONE(dist=NONE),NONE(dist=NONE)	CDYL	ENSG00000153046	Na	nonsynonymous SNV	unknown	Na	CDYL:uc003mwi.3:exon3:c.C179G:p.A60G,	UNKNOWN	Het;C>G	928;36|43	Het;C>G	656;28|33	Hom;C>G	1459;2|59
N	N	-	7	100416250	100416250	A	G	snp	nonsynonymous SNV	T1232C	L411P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	EPHB4	Ephb4	ENSG00000196411	EPH receptor B4	chr7:100400187-100425121	Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008]	null	Homozygotes for a targeted null mutation exhibit arrested angiogenesis and heart development and midgestational lethality.	EPH-ephrin mediated repulsion of cells	GO:0001525;angiogenesis;IEA|GO:0002042;cell migration involved in sprouting angiogenesis;IDA|GO:0003007;heart morphogenesis;ISS|GO:0006468;protein phosphorylation;IEA|GO:0007155;cell adhesion;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048013;ephrin receptor signaling pathway;TAS	GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005003;ephrin receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPHB4		https://hpo.jax.org/app/browse/search?q=EPHB4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600011	http://www.informatics.jax.org/searchtool/Search.do?query=EPHB4&submit=Quick%0D%16352ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHB4	rs144173	0.563698	0.5553	0.6059	1	0	0	exonic	exonic	exonic	EPHB4	EPHB4	ENSG00000196411	synonymous SNV	nonsynonymous SNV	unknown	EPHB4:NM_004444:exon7:c.T1314C:p.S438S,	EPHB4:uc011kkh.1:exon7:c.T1232C:p.L411P,	UNKNOWN	Het;A>G	1558;137|82	Het;A>G	2604;90|125	Hom;A>G	5171;2|193
N	N	-	7	100550786	100550786	T	C	snp	nonsynonymous SNV	T1367C	L456S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	MUC3A	Muc3a	ENSG00000169894	mucin 3A, cell surface associated	chr7:100547257-100550424	The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]	ulcerative colitis	 	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005201;extracellular matrix structural constituent;NAS|GO:0030197;extracellular matrix constituent, lubricant activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MUC3A			https://www.ncbi.nlm.nih.gov/omim/?term=158371	http://www.informatics.jax.org/searchtool/Search.do?query=MUC3A&submit=Quick%0D%12586ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC3A	rs79714278	0	0	0.4864	0.00	0	3	exonic	ncRNA_exonic	upstream;downstream	MUC3A	MUC3B	ENSG00000169894;ENSG00000228273	nonsynonymous SNV	Na	Na	MUC3A:NM_005960:exon2:c.T1367C:p.L456S,	Na	Na	Het;T>C	593;3|12	Het;T>C	749;5|19	Hom;T>C	737;0|15
N	N	-	7	100550816	100550816	G	A	snp	nonsynonymous SNV	G1397A	S466N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MUC3A	Muc3a	ENSG00000169894	mucin 3A, cell surface associated	chr7:100547257-100550424	The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]	ulcerative colitis	 	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005201;extracellular matrix structural constituent;NAS|GO:0030197;extracellular matrix constituent, lubricant activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MUC3A			https://www.ncbi.nlm.nih.gov/omim/?term=158371	http://www.informatics.jax.org/searchtool/Search.do?query=MUC3A&submit=Quick%0D%12586ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC3A	rs62483690	0	0	0.2413	0.00	0	3	exonic	ncRNA_exonic	upstream;downstream	MUC3A	MUC3B	ENSG00000169894;ENSG00000228273	nonsynonymous SNV	Na	Na	MUC3A:NM_005960:exon2:c.G1397A:p.S466N,	Na	Na	Het;G>A	422;4|11	Het;G>A	242;6|7	Hom;G>A	287;0|7
N	N	-	7	100550827	100550827	T	C	snp	nonsynonymous SNV	T1408C	F470L	aromatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MUC3A	Muc3a	ENSG00000169894	mucin 3A, cell surface associated	chr7:100547257-100550424	The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]	ulcerative colitis	 	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005201;extracellular matrix structural constituent;NAS|GO:0030197;extracellular matrix constituent, lubricant activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MUC3A			https://www.ncbi.nlm.nih.gov/omim/?term=158371	http://www.informatics.jax.org/searchtool/Search.do?query=MUC3A&submit=Quick%0D%12586ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC3A	rs760531164	0	0	0.1594	0.00	0	3	exonic	ncRNA_exonic	upstream;downstream	MUC3A	MUC3B	ENSG00000169894;ENSG00000228273	nonsynonymous SNV	Na	Na	MUC3A:NM_005960:exon2:c.T1408C:p.F470L,	Na	Na	Het;T>C	424;5|11	Het;T>C	200;6|5	Hom;T>C	287;0|6
N	N	-	7	100550851	100550851	G	A	snp	nonsynonymous SNV	G1432A	E478K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	MUC3A	Muc3a	ENSG00000169894	mucin 3A, cell surface associated	chr7:100547257-100550424	The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]	ulcerative colitis	 	Termination of O-glycan biosynthesis	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS	GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005201;extracellular matrix structural constituent;NAS|GO:0030197;extracellular matrix constituent, lubricant activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MUC3A			https://www.ncbi.nlm.nih.gov/omim/?term=158371	http://www.informatics.jax.org/searchtool/Search.do?query=MUC3A&submit=Quick%0D%12586ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC3A	rs113108647	0	0	0.0983	0.00	0	3	exonic	ncRNA_exonic	upstream;downstream	MUC3A	MUC3B	ENSG00000169894;ENSG00000228273	nonsynonymous SNV	Na	Na	MUC3A:NM_005960:exon2:c.G1432A:p.E478K,	Na	Na	Het;G>A	176;2|5	Het;G>A	74;8|3	Hom;G>A	107;0|3
N	N	-	7	107834613	107834613	G	C	snp	nonsynonymous SNV	C1615G	P539A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	NRCAM	Nrcam	ENSG00000091129	neuronal cell adhesion molecule	chr7:107788068-108097161	Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Schizophrenia; schizophrenia; autism obsessive compulsive disorder; Autism; several psychiatric disorders; mathematics ability; Tobacco Use Disorder	Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size.	Neurofascin interactions	GO:0001525;angiogenesis;IEP|GO:0001764;neuron migration;NAS|GO:0007155;cell adhesion;IEA|GO:0007409;axonogenesis;NAS|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;NAS|GO:0007416;synapse assembly;TAS|GO:0007417;central nervous system development;NAS|GO:0008104;protein localization;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0019227;neuronal action potential propagation;IEA|GO:0030516;regulation of axon extension;NAS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0045162;clustering of voltage-gated sodium channels;IDA|GO:0045666;positive regulation of neuron differentiation;NAS	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;NAS|GO:0043194;axon initial segment;ISS|GO:0045202;synapse;IEA	GO:0005515;protein binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0086080;protein binding involved in heterotypic cell-cell adhesion;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NRCAM	https://www.uniprot.org/uniprot/Q92823		https://www.ncbi.nlm.nih.gov/omim/?term=601581	http://www.informatics.jax.org/searchtool/Search.do?query=NRCAM&submit=Quick%0D%2136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRCAM	rs6958498	0.698882	0.6872	0.7562	0.38	5	13	exonic	exonic	exonic	NRCAM	NRCAM	ENSG00000091129	nonsynonymous SNV	nonsynonymous SNV	unknown	NRCAM:NM_005010:exon16:c.C1615G:p.P539A,NRCAM:NM_001193582:exon17:c.C1633G:p.P545A,NRCAM:NM_001037132:exon14:c.C1633G:p.P545A,NRCAM:NM_001193583:exon16:c.C1576G:p.P526A,NRCAM:NM_001193584:exon16:c.C1576G:p.P526A,	NRCAM:uc003vfc.3:exon16:c.C1615G:p.P539A,NRCAM:uc003vfd.3:exon16:c.C1576G:p.P526A,NRCAM:uc022aka.1:exon14:c.C1633G:p.P545A,NRCAM:uc003vfe.3:exon16:c.C1576G:p.P526A,NRCAM:uc011kmk.2:exon17:c.C1633G:p.P545A,	UNKNOWN	Het;G>C	1666;75|64	Het;G>C	1449;78|62	Hom;G>C	3848;0|140
N	N	-	7	11509561	11509561	G	C	snp	nonsynonymous SNV	C2313G	D771E	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(-)	THSD7A	Thsd7a	ENSG00000005108	thrombospondin type 1 domain containing 7A	chr7:11409984-11871824	The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]	Tobacco Use Disorder; Cholesterol, HDL; Osteoporosis, Postmenopausal; Respiratory Function Tests; Iron; Electrocardiography; Aorta; Body Weights and Measures; bipolar disorder; Disease; Body Mass Index; Calcium; Body Height; Potassium; Uric Acid; Vitamin K; Exercise Test; Body Weight	 	O-glycosylation of TSR domain-containing proteins	GO:0001525;angiogenesis;IEA|GO:0030154;cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/THSD7A	https://www.uniprot.org/uniprot/Q9UPZ6		https://www.ncbi.nlm.nih.gov/omim/?term=612249	http://www.informatics.jax.org/searchtool/Search.do?query=THSD7A&submit=Quick%0D%348ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THSD7A	rs2285744	0.278754	0.3461	0.4303	0.69	9	13	exonic	exonic	exonic	THSD7A	THSD7A	ENSG00000005108	nonsynonymous SNV	nonsynonymous SNV	unknown	THSD7A:NM_015204:exon9:c.C2313G:p.D771E,	THSD7A:uc021zzn.1:exon9:c.C2313G:p.D771E,THSD7A:uc021zzo.1:exon9:c.C2313G:p.D771E,	UNKNOWN	Het;G>C	1125;67|51	Het;G>C	1484;83|68	Hom;G>C	3911;2|147
N	N	-	7	128587351	128587381	CACTCTGCAGCCGCCCACTCTGCGGCCGCCT	C	indel	nonframeshift substitution	501_531C	 	 	 	IRF5	Irf5	ENSG00000128604	interferon regulatory factor 5	chr7:128577666-128590089	This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Multiple transcript variants encoding different isoforms have been found for this gene, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Mar 2010]	hypertension; lupus erythematosus; Arthritis, Rheumatoid; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; Scleroderma, Systemic; diabetes, type 1; Lupus Erythematosus, Systemic; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; systemic lupus erythematosus; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Arthritis, Rheumatoid|Rheumatoid Arthritis; Psoriasis; Scleroderma, Systemic|Systemic Scleroderma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Sjogren's Syndrome; Wegener's granulomatosis- reduced risk; Lupus Nephritis|Nephritis SLE; Antiphospholipid Syndrome|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; rheumatoid arthritis; haemophilia A; null; Fibrosis|Pulmonary Fibrosis|Scleroderma, Systemic; Type 2 Diabetes| edema | rosiglitazone; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Acute Coronary Syndrome|; Sclerosis; Pulmonary Fibrosis|Scleroderma, Systemic; respiratory syncytial virus bronchiolitis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; multiple sclerosis; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Arthritis, Rheumatoid|; Dengue Hemorrhagic Fever; Behcet Syndrome|; Atherosclerosis|Carotid Stenosis|Myocardial Infarction; Antiphospholipid Syndrome|; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Glomerulonephritis, IGA|IGA Glomerulonephritides|Lupus Nephritis|Nephritis SLE; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic; Lupus Erythematosus, Systemic|Sjogren's Syndrome|Systemic lupus erythematosus; Liver Cirrhosis, Biliary; Autoimmune Diseases|Endometriosis	Homozygous null mice exhibit resistance to lethal shock with a marked decrease in the serum levels of proinflammatory cytokines, but normal B cell development. Mice homozygous for another allele are viable and fertile.	Interferon alpha/beta signaling	GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032494;response to peptidoglycan;IDA|GO:0032495;response to muramyl dipeptide;IDA|GO:0032727;positive regulation of interferon-alpha production;IC|GO:0032728;positive regulation of interferon-beta production;IC|GO:0032735;positive regulation of interleukin-12 production;IC|GO:0043065;positive regulation of apoptotic process;IMP|GO:0045087;innate immune response;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS	GO:0000975;regulatory region DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/IRF5	https://www.uniprot.org/uniprot/Q13568	https://hpo.jax.org/app/browse/search?q=IRF5&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607218	http://www.informatics.jax.org/searchtool/Search.do?query=IRF5&submit=Quick%0D%6160ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IRF5	rs199508964	0.484824	0.4909	0.4737	1	0	0	exonic	exonic	exonic	IRF5	IRF5	ENSG00000128604	nonframeshift substitution	nonframeshift substitution	unknown	IRF5:NM_001098627:exon6:c.501_531C,IRF5:NM_001098630:exon6:c.501_531C,IRF5:NM_001098629:exon6:c.549_579C,IRF5:NM_032643:exon6:c.501_531C,	IRF5:uc010llr.1:exon5:c.467_497C,IRF5:uc003voh.3:exon6:c.501_531C,IRF5:uc003voj.4:exon6:c.501_531C,IRF5:uc010lls.1:exon5:c.467_497C,IRF5:uc003vog.3:exon6:c.549_579C,IRF5:uc003voi.3:exon6:c.501_531C,IRF5:uc010llu.1:exon5:c.467_497C,IRF5:uc010llw.1:exon4:c.467_497C,	UNKNOWN	Het;-ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	1086;38|41	Het;-ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	1232;22|35	Hom;-ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	2159;0|52
N	N	-	7	150783908	150783908	C	CG	indel	frameshift substitution	80_80delinsCG	 	 	 	AGAP3	Agap3	ENSG00000133612	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	chr7:150782918-150841523		Body Mass Index	 		GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGAP3	https://www.uniprot.org/uniprot/Q96P47		https://www.ncbi.nlm.nih.gov/omim/?term=616813	http://www.informatics.jax.org/searchtool/Search.do?query=AGAP3&submit=Quick%0D%6848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP3	rs552859803	0.998802	0	0	1	0	0	exonic	exonic	exonic	AGAP3	AGAP3	ENSG00000133612	frameshift substitution	frameshift substitution	unknown	AGAP3:NM_001042535:exon1:c.80_80delinsCG,AGAP3:NM_031946:exon1:c.80_80delinsCG,	AGAP3:uc003wjf.1:exon1:c.80_80delinsCG,AGAP3:uc010lpy.1:exon1:c.80_80delinsCG,AGAP3:uc003wjg.1:exon1:c.80_80delinsCG,	UNKNOWN	Het;+G	166;2|5	Ref		Hom;+G	98;0|3
N	N	-	7	150783911	150783911	A	G	snp	nonsynonymous SNV	A83G	Q28R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	AGAP3	Agap3	ENSG00000133612	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	chr7:150782918-150841523		Body Mass Index	 		GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGAP3	https://www.uniprot.org/uniprot/Q96P47		https://www.ncbi.nlm.nih.gov/omim/?term=616813	http://www.informatics.jax.org/searchtool/Search.do?query=AGAP3&submit=Quick%0D%6848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP3	rs769408537	0	0	0	0.00	0	12	exonic	exonic	exonic	AGAP3	AGAP3	ENSG00000133612	nonsynonymous SNV	nonsynonymous SNV	unknown	AGAP3:NM_001042535:exon1:c.A83G:p.Q28R,AGAP3:NM_031946:exon1:c.A83G:p.Q28R,	AGAP3:uc003wjf.1:exon1:c.A83G:p.Q28R,AGAP3:uc010lpy.1:exon1:c.A83G:p.Q28R,AGAP3:uc003wjg.1:exon1:c.A83G:p.Q28R,	UNKNOWN	Het;A>G	217;2|5	Ref		Hom;A>G	152;0|4
N	N	-	7	150783917	150783917	T	G	snp	nonsynonymous SNV	T89G	L30R	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	AGAP3	Agap3	ENSG00000133612	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	chr7:150782918-150841523		Body Mass Index	 		GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGAP3	https://www.uniprot.org/uniprot/Q96P47		https://www.ncbi.nlm.nih.gov/omim/?term=616813	http://www.informatics.jax.org/searchtool/Search.do?query=AGAP3&submit=Quick%0D%6848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP3	rs775200524	0	0	0	0.12	1	8	exonic	exonic	exonic	AGAP3	AGAP3	ENSG00000133612	nonsynonymous SNV	nonsynonymous SNV	unknown	AGAP3:NM_001042535:exon1:c.T89G:p.L30R,AGAP3:NM_031946:exon1:c.T89G:p.L30R,	AGAP3:uc003wjf.1:exon1:c.T89G:p.L30R,AGAP3:uc010lpy.1:exon1:c.T89G:p.L30R,AGAP3:uc003wjg.1:exon1:c.T89G:p.L30R,	UNKNOWN	Het;T>G	259;2|7	Ref		Hom;T>G	197;0|5
N	N	-	7	150783919	150783922	GTCT	G	indel	nonframeshift substitution	91_94G	 	 	 	AGAP3	Agap3	ENSG00000133612	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	chr7:150782918-150841523		Body Mass Index	 		GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGAP3	https://www.uniprot.org/uniprot/Q96P47		https://www.ncbi.nlm.nih.gov/omim/?term=616813	http://www.informatics.jax.org/searchtool/Search.do?query=AGAP3&submit=Quick%0D%6848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP3	rs776100575	0	0	0	1	0	0	exonic	exonic	exonic	AGAP3	AGAP3	ENSG00000133612	nonframeshift substitution	nonframeshift substitution	unknown	AGAP3:NM_001042535:exon1:c.91_94G,AGAP3:NM_031946:exon1:c.91_94G,	AGAP3:uc003wjf.1:exon1:c.91_94G,AGAP3:uc010lpy.1:exon1:c.91_94G,AGAP3:uc003wjg.1:exon1:c.91_94G,	UNKNOWN	Het;-TCT	249;2|7	Ref		Hom;-TCT	233;0|5
N	N	-	7	150783922	150783922	T	TGGGG	indel	frameshift substitution	94_94delinsTGGGG	 	 	 	AGAP3	Agap3	ENSG00000133612	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	chr7:150782918-150841523		Body Mass Index	 		GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGAP3	https://www.uniprot.org/uniprot/Q96P47		https://www.ncbi.nlm.nih.gov/omim/?term=616813	http://www.informatics.jax.org/searchtool/Search.do?query=AGAP3&submit=Quick%0D%6848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP3	rs766984834	0	0	0	1	0	0	exonic	exonic	exonic	AGAP3	AGAP3	ENSG00000133612	frameshift substitution	frameshift substitution	unknown	AGAP3:NM_001042535:exon1:c.94_94delinsTGGGG,AGAP3:NM_031946:exon1:c.94_94delinsTGGGG,	AGAP3:uc003wjf.1:exon1:c.94_94delinsTGGGG,AGAP3:uc010lpy.1:exon1:c.94_94delinsTGGGG,AGAP3:uc003wjg.1:exon1:c.94_94delinsTGGGG,	UNKNOWN	Het;+GGGG	249;2|7	Ref		Hom;+GGGG	233;0|5
N	N	-	7	15652068	15652068	T	G	snp	nonsynonymous SNV	A859C	I287L	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	MEOX2	Meox2	ENSG00000106511	mesenchyme homeobox 2	chr7:15650837-15726437	This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and/or skeletal abnormalities, in addition to neurovascular dysfunction observed in Alzheimer's disease. [provided by RefSeq, Jul 2008]	Echocardiography; Cell Adhesion Molecules; Coronary Artery Disease; Tobacco Use Disorder	Several mutations that inactivate the gene result in mild defects of rib and vertebrae development. Inactivation in conjunction with a null mutation in a related homeobox gene results in more severe defects stemming from impaired somite formation, patterning, and differentiation.		GO:0001525;angiogenesis;IEA|GO:0001757;somite specification;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;TAS|GO:0007519;skeletal muscle tissue development;IEA|GO:0008015;blood circulation;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0060021;palate development;IEA|GO:0060173;limb development;IEA|GO:0061053;somite development;IBA|GO:0070997;neuron death;IMP|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IGI	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MEOX2	https://www.uniprot.org/uniprot/P50222		https://www.ncbi.nlm.nih.gov/omim/?term=600535	http://www.informatics.jax.org/searchtool/Search.do?query=MEOX2&submit=Quick%0D%3509ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEOX2	rs2237493	0.125	0.0298	0.0657	0.23	3	13	exonic	exonic	exonic	MEOX2	MEOX2	ENSG00000106511	nonsynonymous SNV	nonsynonymous SNV	unknown	MEOX2:NM_005924:exon3:c.A859C:p.I287L,	MEOX2:uc003stc.3:exon3:c.A859C:p.I287L,	UNKNOWN	Het;T>G	1064;39|46	Ref		Hom;T>G	2003;0|69
N	N	-	7	1586653	1586653	A	AGCC	indel	nonframeshift substitution	1177_1177delinsGGCT	 	 	 	TMEM184A	Tmem184a	ENSG00000164855	transmembrane protein 184A	chr7:1581871-1600457			 		GO:0006810;transport;IBA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A	rs112463195	0	0.0015	0.5494	1	0	0	exonic	exonic	exonic	TMEM184A	TMEM184A	ENSG00000164855	nonframeshift substitution	nonframeshift substitution	unknown	TMEM184A:NM_001097620:exon9:c.1177_1177delinsGGCT,	TMEM184A:uc003skt.4:exon6:c.1114_1114delinsGGCT,TMEM184A:uc021zyr.1:exon7:c.592_592delinsGGCT,TMEM184A:uc003skv.4:exon9:c.1177_1177delinsGGCT,	UNKNOWN	Het;+GCC	1105;50|46	Het;+GCC	1220;46|32	Hom;+GCC	3517;1|76
N	N	-	7	1586662	1586662	T	C	snp	nonsynonymous SNV	A1105G	S369G	polar,hydrophilic,neutral	aliphatic,neutral	TMEM184A	Tmem184a	ENSG00000164855	transmembrane protein 184A	chr7:1581871-1600457			 		GO:0006810;transport;IBA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A	rs3779607	0.626997	0.5394	0.6027	0.08	1	12	exonic	exonic	exonic	TMEM184A	TMEM184A	ENSG00000164855	nonsynonymous SNV	nonsynonymous SNV	unknown	TMEM184A:NM_001097620:exon9:c.A1168G:p.S390G,	TMEM184A:uc003skt.4:exon6:c.A1105G:p.S369G,TMEM184A:uc021zyr.1:exon7:c.A583G:p.S195G,TMEM184A:uc003skv.4:exon9:c.A1168G:p.S390G,	UNKNOWN	Het;T>C	1959;57|56	Het;T>C	1281;50|36	Hom;T>C	3574;3|87
N	N	-	7	1588391	1588391	A	G	snp	nonsynonymous SNV	T515C	V172A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TMEM184A	Tmem184a	ENSG00000164855	transmembrane protein 184A	chr7:1581871-1600457			 		GO:0006810;transport;IBA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A	rs3814481	0.67472	0	0.6586	1	0	0	intronic	exonic	intronic	TMEM184A	TMEM184A	ENSG00000164855	Na	nonsynonymous SNV	Na	Na	TMEM184A:uc003skt.4:exon4:c.T515C:p.V172A,	Na	Het;A>G	1093;26|39	Het;A>G	681;31|25	Hom;A>G	665;0|23
N	N	-	7	1595068	1595068	G	A	snp	nonsynonymous SNV	C53T	A18V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TMEM184A	Tmem184a	ENSG00000164855	transmembrane protein 184A	chr7:1581871-1600457			 		GO:0006810;transport;IBA	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A	rs17852421	0.222045	0.2143	0.2486	0.08	1	12	exonic	exonic	exonic	TMEM184A	TMEM184A	ENSG00000164855	nonsynonymous SNV	nonsynonymous SNV	unknown	TMEM184A:NM_001097620:exon2:c.C53T:p.A18V,	TMEM184A:uc003skv.4:exon2:c.C53T:p.A18V,	UNKNOWN	Het;G>A	1597;85|75	Het;G>A	1316;97|66	Hom;G>A	4194;0|158
N	N	-	7	20762646	20762646	G	T	snp	nonsynonymous SNV	G2429T	G810V	aliphatic,neutral	aliphatic,hydrophobic,neutral	ABCB5	Abcb5	ENSG00000004846	ATP binding cassette subfamily B member 5	chr7:20654830-20816658	ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]	obesity; Behcet Syndrome	Mice homozygous for a null allele display limbal stem cell abnormalities, impaired cornea development and repair, and retinal abnormalities.	ABC-family proteins mediated transport	GO:0006810;transport;IEA|GO:0006855;drug transmembrane transport;IEA|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042908;xenobiotic transport;IEA|GO:0048058;compound eye corneal lens development;IEA|GO:0055085;transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0015562;efflux transmembrane transporter activity;IDA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABCB5	https://www.uniprot.org/uniprot/Q2M3G0		https://www.ncbi.nlm.nih.gov/omim/?term=611785	http://www.informatics.jax.org/searchtool/Search.do?query=ABCB5&submit=Quick%0D%330ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCB5	rs62453384	0.232228	0.2991	0.3049	0.77	10	13	exonic	exonic	exonic	ABCB5	ABCB5	ENSG00000004846	nonsynonymous SNV	nonsynonymous SNV	unknown	ABCB5:NM_001163941:exon21:c.G2429T:p.G810V,ABCB5:NM_178559:exon12:c.G1094T:p.G365V,	ABCB5:uc010kuh.3:exon21:c.G2429T:p.G810V,ABCB5:uc003suw.4:exon12:c.G1094T:p.G365V,	UNKNOWN	Het;G>T	776;51|38	Ref		Hom;G>T	2291;0|86
N	N	-	7	20778646	20778646	G	A	snp	nonsynonymous SNV	G2908A	E970K	polar,hydrophilic,charged(-)	polar,hydrophilic,charged(+)	ABCB5	Abcb5	ENSG00000004846	ATP binding cassette subfamily B member 5	chr7:20654830-20816658	ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]	obesity; Behcet Syndrome	Mice homozygous for a null allele display limbal stem cell abnormalities, impaired cornea development and repair, and retinal abnormalities.	ABC-family proteins mediated transport	GO:0006810;transport;IEA|GO:0006855;drug transmembrane transport;IEA|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042908;xenobiotic transport;IEA|GO:0048058;compound eye corneal lens development;IEA|GO:0055085;transmembrane transport;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0015562;efflux transmembrane transporter activity;IDA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABCB5	https://www.uniprot.org/uniprot/Q2M3G0		https://www.ncbi.nlm.nih.gov/omim/?term=611785	http://www.informatics.jax.org/searchtool/Search.do?query=ABCB5&submit=Quick%0D%330ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCB5	rs6461515	0.756789	0.7738	0.8033	0.23	3	13	exonic	exonic	exonic	ABCB5	ABCB5	ENSG00000004846	nonsynonymous SNV	nonsynonymous SNV	unknown	ABCB5:NM_001163941:exon24:c.G2908A:p.E970K,ABCB5:NM_178559:exon15:c.G1573A:p.E525K,	ABCB5:uc010kuh.3:exon24:c.G2908A:p.E970K,ABCB5:uc003suw.4:exon15:c.G1573A:p.E525K,	UNKNOWN	Het;G>A	791;57|39	Ref		Hom;G>A	2885;0|104
N	N	-	7	2394746	2394746	T	C	snp	nonsynonymous SNV	T190C	S64P	polar,hydrophilic,neutral	hydrophobic,neutral	EIF3B	Eif3b	ENSG00000106263	eukaryotic translation initiation factor 3 subunit B	chr7:2393721-2420380			Homozygous embryos die prenatally prior to the blastocyst stage.	GTP hydrolysis and joining of the 60S ribosomal subunit	GO:0001731;formation of translation preinitiation complex;IEA|GO:0006412;translation;IEA|GO:0006413;translational initiation;IEA|GO:0006446;regulation of translational initiation;IEA|GO:0075522;IRES-dependent viral translational initiation;IDA|GO:0075525;viral translational termination-reinitiation;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IEA|GO:0016282;eukaryotic 43S preinitiation complex;IEA|GO:0033290;eukaryotic 48S preinitiation complex;IEA|GO:0070062;extracellular exosome;IDA|GO:0071541;eukaryotic translation initiation factor 3 complex, eIF3m;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0031369;translation initiation factor binding;IEA|GO:0032947;protein complex scaffold;TAS	http://www.genecards.org/index.php?path=/Search/keyword/EIF3B	https://www.uniprot.org/uniprot/P55884		https://www.ncbi.nlm.nih.gov/omim/?term=603917	http://www.informatics.jax.org/searchtool/Search.do?query=EIF3B&submit=Quick%0D%3469ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3B	rs9690787	0.751198	0	0.7901	0.08	1	13	exonic	exonic	exonic	EIF3B	EIF3B	ENSG00000106263	nonsynonymous SNV	nonsynonymous SNV	unknown	EIF3B:NM_001037283:exon1:c.T190C:p.S64P,EIF3B:NM_003751:exon1:c.T190C:p.S64P,	EIF3B:uc003slz.1:exon1:c.T190C:p.S64P,EIF3B:uc003sly.3:exon1:c.T190C:p.S64P,EIF3B:uc003slx.3:exon1:c.T190C:p.S64P,	UNKNOWN	Het;T>C	114;8|6	Het;T>C	249;5|10	Hom;T>C	403;0|16
N	N	-	7	2649704	2649704	T	G	snp	nonsynonymous SNV	T1948G	L650V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	IQCE	Iqce	ENSG00000106012	IQ motif containing E	chr7:2598632-2654368		Acquired Immunodeficiency Syndrome|Disease Progression	 	Activation of SMO		GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IQCE	https://www.uniprot.org/uniprot/Q6IPM2	https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE	rs3735109	0	0.3820	0.4557	0.08	1	13	exonic	exonic	exonic	IQCE	IQCE	ENSG00000106012	nonsynonymous SNV	nonsynonymous SNV	unknown	IQCE:NM_152558:exon22:c.T1996G:p.L666V,IQCE:NM_001287501:exon20:c.T1801G:p.L601V,	IQCE:uc003smk.4:exon21:c.T1948G:p.L650V,IQCE:uc003smn.4:exon20:c.T1801G:p.L601V,IQCE:uc003smo.4:exon22:c.T1996G:p.L666V,	UNKNOWN	Het;T>G	1730;72|84	Het;T>G	827;78|42	Hom;T>G	3053;0|115
N	N	-	7	29186576	29186576	A	G	snp	splicing	273+1A>G	 	 	 	CHN2	Chn2	ENSG00000106069	chimerin 2	chr7:29161890-29553944	This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]	Type 2 diabetes; coronary spastic angina; Asthma; Tobacco Use Disorder	Mice homozygous for a targeted allele exhibit impaired infrapyramidal tract neuron prunning.	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA	GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CHN2	https://www.uniprot.org/uniprot/P52757		https://www.ncbi.nlm.nih.gov/omim/?term=602857	http://www.informatics.jax.org/searchtool/Search.do?query=CHN2&submit=Quick%0D%3446ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHN2	rs245881	0.832268	0	0.8149	0.18	2	11	splicing	exonic	exonic	CHN2(NM_001293069:exon2:c.273+1A>G)	CHN2	ENSG00000106069	Na	nonsynonymous SNV	unknown	Na	CHN2:uc011jzs.2:exon2:c.A274G:p.N92D,	UNKNOWN	Het;A>G	1492;66|67	Het;A>G	1387;53|62	Hom;A>G	3307;2|118
N	N	-	7	30634661	30634661	C	G	snp	nonsynonymous SNV	C124G	P42A	hydrophobic,neutral	aliphatic,hydrophobic,neutral	GARS	Gars	ENSG00000106105	glycyl-tRNA synthetase	chr7:30634297-30673649	This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]	Charcot-Marie-Tooth Disease; Chronic renal failure|Kidney Failure, Chronic; Acquired Immunodeficiency Syndrome|Disease Progression	A dominant mutation results in sensory and motor axon degeneration in affected mice, with defects in synaptic transmission, nerve conduction and premature death.  A loss of function mutation results in embryonic lethality in homozygous mice, and no discernable phenotype in heterozygous mice.	Mitochondrial tRNA aminoacylation	GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006426;glycyl-tRNA aminoacylation;IBA|GO:0015966;diadenosine tetraphosphate biosynthetic process;IDA	GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0030141;secretory granule;IEA|GO:0030424;axon;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IEA	GO:0000166;nucleotide binding;IEA|GO:0004081;bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity;IDA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004820;glycine-tRNA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016874;ligase activity;IEA|GO:0046983;protein dimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GARS	https://www.uniprot.org/uniprot/P41250	https://hpo.jax.org/app/browse/search?q=GARS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600287	http://www.informatics.jax.org/searchtool/Search.do?query=GARS&submit=Quick%0D%3454ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GARS	rs1049402	0.649361	0.7399	0.7030	0.08	1	13	exonic	exonic	exonic	GARS	GARS	ENSG00000106105	nonsynonymous SNV	nonsynonymous SNV	unknown	GARS:NM_002047:exon1:c.C124G:p.P42A,	GARS:uc003tbm.3:exon1:c.C124G:p.P42A,	UNKNOWN	Het;C>G	414;12|16	Het;C>G	322;19|16	Hom;C>G	520;0|20
N	N	-	7	31682453	31682453	C	T	snp	nonsynonymous SNV	C1469T	A490V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	CCDC129	Ccdc129	ENSG00000180347	coiled-coil domain containing 129	chr7:31553704-31698334		Tobacco Use Disorder; Body Fat Distribution	 				GO:0005102;receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCDC129				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129	rs4141001	0.728834	0.7124	0.7685	0.15	2	13	exonic	exonic	exonic	CCDC129	CCDC129	ENSG00000180347	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC129:NM_001257968:exon11:c.C1547T:p.A516V,CCDC129:NM_001257967:exon12:c.C1499T:p.A500V,CCDC129:NM_194300:exon10:c.C1469T:p.A490V,	CCDC129:uc003tcj.1:exon11:c.C1469T:p.A490V,CCDC129:uc011kae.3:exon11:c.C1547T:p.A516V,CCDC129:uc003tci.1:exon11:c.C1022T:p.A341V,CCDC129:uc011kad.1:exon12:c.C1499T:p.A500V,CCDC129:uc003tck.1:exon9:c.C1193T:p.A398V,	UNKNOWN	Het;C>T	2618;144|112	Ref		Hom;C>T	5306;1|188
N	N	-	7	31683410	31683410	G	A	snp	nonsynonymous SNV	G2426A	C809Y	polar,hydrophobic,neutral	aromatic,polar,hydrophobic	CCDC129	Ccdc129	ENSG00000180347	coiled-coil domain containing 129	chr7:31553704-31698334		Tobacco Use Disorder; Body Fat Distribution	 				GO:0005102;receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCDC129				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129	rs10247620	0.76278	0.7534	0.7796	0.46	6	13	exonic	exonic	exonic	CCDC129	CCDC129	ENSG00000180347	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC129:NM_001257968:exon11:c.G2504A:p.C835Y,CCDC129:NM_001257967:exon12:c.G2456A:p.C819Y,CCDC129:NM_194300:exon10:c.G2426A:p.C809Y,	CCDC129:uc003tcj.1:exon11:c.G2426A:p.C809Y,CCDC129:uc011kae.3:exon11:c.G2504A:p.C835Y,CCDC129:uc003tci.1:exon11:c.G1979A:p.C660Y,CCDC129:uc011kad.1:exon12:c.G2456A:p.C819Y,CCDC129:uc003tck.1:exon9:c.G2150A:p.C717Y,	UNKNOWN	Het;G>A	4006;216|181	Ref		Hom;G>A	9753;0|363
N	N	-	7	31697913	31697913	C	CT	indel	frameshift substitution	3096_3096delinsCT	 	 	 	CCDC129	Ccdc129	ENSG00000180347	coiled-coil domain containing 129	chr7:31553704-31698334		Tobacco Use Disorder; Body Fat Distribution	 				GO:0005102;receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCDC129				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129	rs35589779	0.359225	0	0.3875	1	0	0	exonic	exonic	exonic	CCDC129	CCDC129	ENSG00000180347	frameshift substitution	frameshift substitution	unknown	CCDC129:NM_001257968:exon15:c.3096_3096delinsCT,	CCDC129:uc011kae.3:exon15:c.3096_3096delinsCT,	UNKNOWN	Het;+T	274;36|18	Ref		Hom;+T	1422;9|65
N	N	-	7	32338337	32338337	G	A	snp	nonsynonymous SNV	C11T	A4V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PDE1C	Pde1c	ENSG00000154678	phosphodiesterase 1C	chr7:31790793-32338941	This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]	Lipoproteins, VLDL; Arteries; Tobacco Use Disorder; Smoking; Erythrocytes; Tunica Media; Glucose; Celiac Disease|; Apolipoproteins B; Triglycerides	Olfactory sensory nerves from homozygous null mice have significantly reduced action potentials in response to odor with slower onset kinetics and a faster response termination.	Cam-PDE 1 activation	GO:0007165;signal transduction;IEA|GO:0007608;sensory perception of smell;IEA	GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA	GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004117;calmodulin-dependent cyclic-nucleotide phosphodiesterase activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE1C	https://www.uniprot.org/uniprot/Q14123	https://hpo.jax.org/app/browse/search?q=PDE1C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602987	http://www.informatics.jax.org/searchtool/Search.do?query=PDE1C&submit=Quick%0D%9795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE1C	rs215607	0.784545	0.75	0.8061	0.38	5	13	exonic	exonic	exonic	PDE1C	PDE1C	ENSG00000154678	nonsynonymous SNV	nonsynonymous SNV	unknown	PDE1C:NM_001191058:exon1:c.C11T:p.A4V,	PDE1C:uc003tco.2:exon1:c.C11T:p.A4V,	UNKNOWN	Het;G>A	1007;45|51	Het;G>A	967;27|44	Hom;G>A	1283;0|50
N	N	-	7	32961023	32961023	A	G	snp	nonsynonymous SNV	T178C	W60R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	RP9P																		rs2893440	0.691693	0	0	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	RP9P	RP9P	ENSG00000205763	Na	nonsynonymous SNV	Na	Na	RP9P:uc011kaj.3:exon3:c.T178C:p.W60R,	Na	Het;A>G	1096;51|50	Het;A>G	882;63|45	Hom;A>G	2866;0|111
N	N	-	7	33388713	33388713	G	A	snp	nonsynonymous SNV	G1363A	A455T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	BBS9	Bbs9	ENSG00000122507	Bardet-Biedl syndrome 9	chr7:33168856-33645680	This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Cholesterol; Tobacco Use Disorder; Ovarian Failure, Premature; Echocardiography; Hemoglobins; Blood Cells; Cytomegalovirus Vaccines; Blood Pressure; Hematocrit; Cholesterol, LDL; Interleukin-6; Retinal Diseases	 	BBSome-mediated cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0007601;visual perception;IEA|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0045444;fat cell differentiation;ISS|GO:0050896;response to stimulus;IEA|GO:0060271;cilium assembly;IBA|GO:0061512;protein localization to cilium;IMP	GO:0000242;pericentriolar material;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IEA|GO:0034451;centriolar satellite;IDA|GO:0034464;BBSome;IEA|GO:0035869;ciliary transition zone;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BBS9	https://www.uniprot.org/uniprot/Q3SYG4	https://hpo.jax.org/app/browse/search?q=BBS9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607968	http://www.informatics.jax.org/searchtool/Search.do?query=BBS9&submit=Quick%0D%5419ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS9	rs11773504	0.171326	0.1755	0.2042	0.15	2	13	exonic	exonic	exonic	BBS9	BBS9	ENSG00000122507	nonsynonymous SNV	nonsynonymous SNV	unknown	BBS9:NM_014451:exon13:c.G1363A:p.A455T,BBS9:NM_001033605:exon13:c.G1363A:p.A455T,BBS9:NM_198428:exon13:c.G1363A:p.A455T,BBS9:NM_001033604:exon13:c.G1363A:p.A455T,	BBS9:uc003tdo.1:exon13:c.G1363A:p.A455T,BBS9:uc003tdn.1:exon13:c.G1363A:p.A455T,BBS9:uc003tdp.1:exon13:c.G1363A:p.A455T,BBS9:uc003tdq.1:exon13:c.G1363A:p.A455T,BBS9:uc011kao.1:exon10:c.G997A:p.A333T,	UNKNOWN	Het;G>A	1491;103|77	Ref		Hom;G>A	4337;4|174
N	N	-	7	35709842	35709842	C	T	snp	nonsynonymous SNV	G322A	A108T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	HERPUD2	Herpud2	ENSG00000122557	HERPUD family member 2	chr7:35672269-35735181		Celiac Disease|; Insulin	 		GO:0006986;response to unfolded protein;IEA|GO:0007283;spermatogenesis;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/HERPUD2	https://www.uniprot.org/uniprot/Q9BSE4			http://www.informatics.jax.org/searchtool/Search.do?query=HERPUD2&submit=Quick%0D%5425ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HERPUD2	rs3779234	0.267372	0.3148	0.3355	0.08	1	13	exonic	exonic	exonic	HERPUD2	HERPUD2	ENSG00000122557	nonsynonymous SNV	nonsynonymous SNV	unknown	HERPUD2:NM_022373:exon4:c.G322A:p.A108T,	HERPUD2:uc003tet.3:exon3:c.G322A:p.A108T,HERPUD2:uc003tes.4:exon4:c.G322A:p.A108T,	UNKNOWN	Het;C>T	539;43|27	Het;C>T	1623;99|80	Hom;C>T	4946;0|182
N	N	-	7	37947164	37947164	G	T	snp	nonsynonymous SNV	C958A	P320T	hydrophobic,neutral	polar,hydrophilic,neutral	SFRP4	Sfrp4	ENSG00000106483	secreted frizzled related protein 4	chr7:37945543-38065297	Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq, Jul 2008]	normal variation; Carcinoma, Renal Cell|Kidney Neoplasms; Bone Mineral Density; colorectal cancer	Mice homozygous for a targeted allele exhibit a slight reduction in female fertility, normal body size, and normal serum phosphate and calcium levels.		GO:0002092;positive regulation of receptor internalization;IDA|GO:0007275;multicellular organism development;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009725;response to hormone;NAS|GO:0010628;positive regulation of gene expression;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;NAS|GO:0030510;regulation of BMP signaling pathway;IEA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0045606;positive regulation of epidermal cell differentiation;IDA|GO:0055062;phosphate ion homeostasis;IDA|GO:0060349;bone morphogenesis;IMP|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:1902174;positive regulation of keratinocyte apoptotic process;IDA|GO:2000051;negative regulation of non-canonical Wnt signaling pathway;IEA|GO:2000119;negative regulation of sodium-dependent phosphate transport;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0009986;cell surface;IDA	GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SFRP4	https://www.uniprot.org/uniprot/Q6FHJ7	https://hpo.jax.org/app/browse/search?q=SFRP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606570	http://www.informatics.jax.org/searchtool/Search.do?query=SFRP4&submit=Quick%0D%3507ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFRP4	rs1802073	0.542732	0.4311	0.4382	0.15	2	13	exonic	exonic	exonic	SFRP4	SFRP4	ENSG00000106483	nonsynonymous SNV	nonsynonymous SNV	unknown	SFRP4:NM_003014:exon6:c.C958A:p.P320T,	SFRP4:uc003tfo.4:exon6:c.C958A:p.P320T,	UNKNOWN	Het;G>T	1008;59|50	Het;G>T	756;55|41	Hom;G>T	2649;2|103
N	N	-	7	4213975	4213975	A	G	snp	nonsynonymous SNV	A4922G	H1641R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	SDK1	Sdk1	ENSG00000146555	sidekick cell adhesion molecule 1	chr7:3341080-4308632	The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]	Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation	 	SDK interactions	GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA	GO:0042802;identical protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/SDK1	https://www.uniprot.org/uniprot/Q7Z5N4		https://www.ncbi.nlm.nih.gov/omim/?term=607216	http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1	rs671694	0.799321	0.7866	0.7525	0.23	3	13	exonic	exonic	exonic	SDK1	SDK1	ENSG00000146555	nonsynonymous SNV	nonsynonymous SNV	unknown	SDK1:NM_152744:exon33:c.A4922G:p.H1641R,SDK1:NM_001079653:exon7:c.A383G:p.H128R,	SDK1:uc003smx.3:exon33:c.A4922G:p.H1641R,SDK1:uc010kso.3:exon19:c.A2750G:p.H917R,SDK1:uc003smy.3:exon7:c.A383G:p.H128R,	UNKNOWN	Het;A>G	1770;59|78	Het;A>G	854;77|42	Hom;A>G	2316;3|91
N	N	-	7	47968927	47968927	C	A	snp	nonsynonymous SNV	G934T	V312F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	PKD1L1	Pkd1l1	ENSG00000158683	polycystin 1 like 1, transient receptor potential channel interacting	chr7:47814250-47988088	This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Leprosy; Sodium	Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.		GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS	GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1		https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609721	http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1	rs2686817	0.484824	0.4922	0.4885	0.38	5	13	exonic	exonic	exonic	PKD1L1	PKD1L1	ENSG00000158683	nonsynonymous SNV	nonsynonymous SNV	unknown	PKD1L1:NM_138295:exon7:c.G934T:p.V312F,	PKD1L1:uc003tny.2:exon7:c.G934T:p.V312F,	UNKNOWN	Het;C>A	1801;100|83	Ref		Hom;C>A	3673;0|126
N	N	-	7	48285485	48285485	C	T	snp	nonsynonymous SNV	C1517T	P506L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	ABCA13	Abca13	ENSG00000179869	ATP binding cassette subfamily A member 13	chr7:48211055-48687092	In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]	schizophrenia | depression | bipolar disorder; Body Mass Index; Respiratory Function Tests; Tobacco Use Disorder; Body Height; Erythrocyte Count; Iron; Life Expectancy; Metabolism; Autism	 	Neutrophil degranulation	GO:0006810;transport;IEA|GO:0006869;lipid transport;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0035577;azurophil granule membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA13			https://www.ncbi.nlm.nih.gov/omim/?term=607807	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA13&submit=Quick%0D%14395ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA13	rs1880738	0.40655	0.3516	0.4441	0.08	1	13	exonic	exonic	exonic	ABCA13	ABCA13	ENSG00000179869	nonsynonymous SNV	nonsynonymous SNV	unknown	ABCA13:NM_152701:exon13:c.C1517T:p.P506L,	ABCA13:uc003toq.2:exon13:c.C1517T:p.P506L,ABCA13:uc010kyr.2:exon14:c.C26T:p.P9L,	UNKNOWN	Het;C>T	773;26|33	Ref		Hom;C>T	1835;0|67
N	N	-	7	74225480	74225480	T	C	snp	nonsynonymous SNV	A755G	H252R	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	GTF2IRD2	Gtf2ird2	ENSG00000196275	GTF2I repeat domain containing 2	chr7:74210483-74267847	This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IBA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IBA|GO:0005737;cytoplasm;IBA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GTF2IRD2			https://www.ncbi.nlm.nih.gov/omim/?term=608899	http://www.informatics.jax.org/searchtool/Search.do?query=GTF2IRD2&submit=Quick%0D%16311ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GTF2IRD2	rs200821956	0.0307508	0	0.1241	0.00	0	9	exonic	exonic	exonic	GTF2IRD2	GTF2IRD2	ENSG00000196275	nonsynonymous SNV	nonsynonymous SNV	unknown	GTF2IRD2:NM_173537:exon10:c.A755G:p.H252R,	GTF2IRD2:uc011kfi.2:exon10:c.A755G:p.H252R,GTF2IRD2:uc003ubd.1:exon10:c.A755G:p.H252R,	UNKNOWN	Het;T>C	98;6|5	Ref		Hom;T>C	165;0|5
N	N	-	7	814788	814788	G	A	snp	nonsynonymous SNV	G2228A	R743K	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	HEATR2	 																	rs3922641	0.66873	0.6269	0.6211	0.08	1	13	exonic	exonic	exonic	DNAAF5	HEATR2	ENSG00000164818	nonsynonymous SNV	nonsynonymous SNV	unknown	DNAAF5:NM_017802:exon11:c.G2228A:p.R743K,	HEATR2:uc010krz.1:exon11:c.G2228A:p.R743K,HEATR2:uc003sjc.2:exon4:c.G503A:p.R168K,HEATR2:uc003siz.2:exon11:c.G1832A:p.R611K,HEATR2:uc003sjb.2:exon4:c.G368A:p.R123K,	UNKNOWN	Het;G>A	877;82|44	Het;G>A	1091;51|49	Hom;G>A	3208;0|114
N	N	-	7	881668	881668	C	T	snp	nonsynonymous SNV	C202T	H68Y	aromatic,polar,hydrophilic,charged(+)	aromatic,polar,hydrophobic	SUN1	Sun1	ENSG00000164828	Sad1 and UNC84 domain containing 1	chr7:855528-936072	This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010]	Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Celiac Disease|	Mice homozygous for a null allele exhibit sterility due to arrested meiosis,  hearing loss associated with outer hair cell degeneration, abnormal cerebellum development, ataxia, impaired motor coordination, and abnormal Purkinje cell migration.	Meiotic synapsis	GO:0001503;ossification;IEA|GO:0006998;nuclear envelope organization;IGI|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0021817;nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration;IEA|GO:0030154;cell differentiation;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051642;centrosome localization;IEA|GO:0070197;meiotic attachment of telomere to nuclear envelope;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IDA|GO:0090292;nuclear matrix anchoring at nuclear membrane;IDA	GO:0002080;acrosomal membrane;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005637;nuclear inner membrane;IEA|GO:0005639;integral component of nuclear inner membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034993;LINC complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI|GO:0005521;lamin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SUN1			https://www.ncbi.nlm.nih.gov/omim/?term=607723	http://www.informatics.jax.org/searchtool/Search.do?query=SUN1&submit=Quick%0D%11400ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN1	rs6461378	0.532947	0.4755	0.4667	0.46	6	13	exonic	exonic	exonic	SUN1	SUN1	ENSG00000164828	nonsynonymous SNV	nonsynonymous SNV	unknown	SUN1:NM_001171945:exon5:c.C415T:p.H139Y,SUN1:NM_001171946:exon4:c.C352T:p.H118Y,SUN1:NM_001171944:exon4:c.C352T:p.H118Y,SUN1:NM_025154:exon3:c.C202T:p.H68Y,SUN1:NM_001130965:exon3:c.C352T:p.H118Y,	SUN1:uc003sjf.3:exon3:c.C202T:p.H68Y,SUN1:uc011jvq.2:exon4:c.C352T:p.H118Y,SUN1:uc021zyl.1:exon4:c.C352T:p.H118Y,SUN1:uc021zym.1:exon3:c.C352T:p.H118Y,SUN1:uc010ksa.1:exon5:c.C415T:p.H139Y,SUN1:uc003sje.1:exon4:c.C352T:p.H118Y,	UNKNOWN	Het;C>T	1634;71|76	Het;C>T	2009;70|93	Hom;C>T	3563;0|133
N	N	-	7	90894459	90894459	A	ACCG	indel	nonframeshift substitution	264_264delinsACCG	 	 	 	FZD1	Fzd1	ENSG00000157240	frizzled class receptor 1	chr7:90893783-90898123	 Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins.  The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif.  The FZD1 transcript is expressed in various tissues. [provided by RefSeq, Jul 2008]	Bone Mineral Density; Lipoproteins, HDL; Neuroblastoma; Albumins; Cleft Lip|Cleft Palate; null	Homozygous mutation of this gene does not appear to result in a phenotype.	Disassembly of the destruction complex and recruitment of AXIN to the membrane	GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0003149;membranous septum morphogenesis;IEA|GO:0003150;muscular septum morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007267;cell-cell signaling;IDA|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030182;neuron differentiation;ISS|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0035414;negative regulation of catenin import into nucleus;IEA|GO:0035425;autocrine signaling;IDA|GO:0042493;response to drug;IMP|GO:0044338;canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation;IMP|GO:0044339;canonical Wnt signaling pathway involved in osteoblast differentiation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0060022;hard palate development;IEA|GO:0060070;canonical Wnt signaling pathway;IDA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0060412;ventricular septum morphogenesis;IEA|GO:0090179;planar cell polarity pathway involved in neural tube closure;IEA|GO:0099054;presynapse assembly;TAS|GO:1903204;negative regulation of oxidative stress-induced neuron death;IEA|GO:1904886;beta-catenin destruction complex disassembly;TAS|GO:1904953;Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation;NAS	GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:1990909;Wnt signalosome;IC	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005102;receptor binding;IPI|GO:0005109;frizzled binding;IPI|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;NAS|GO:0030165;PDZ domain binding;IPI|GO:0042813;Wnt-activated receptor activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FZD1			https://www.ncbi.nlm.nih.gov/omim/?term=603408	http://www.informatics.jax.org/searchtool/Search.do?query=FZD1&submit=Quick%0D%10075ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FZD1	rs139480179	0.374201	0.3887	0.4663	1	0	0	exonic	exonic	exonic	FZD1	FZD1	ENSG00000157240	nonframeshift substitution	nonframeshift substitution	unknown	FZD1:NM_003505:exon1:c.264_264delinsACCG,	FZD1:uc003ula.3:exon1:c.264_264delinsACCG,	UNKNOWN	Het;+CCG	1634;51|43	Het;+CCG	1345;52|38	Hom;+CCG	3190;0|71
N	N	-	7	91503228	91503228	C	T	snp	nonsynonymous SNV	G820A	A274T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	MTERF	 																	rs10266424	0.39996	0.4050	0.4664	0.08	1	13	exonic	exonic	exonic	MTERF1	MTERF	ENSG00000127989	nonsynonymous SNV	nonsynonymous SNV	unknown	MTERF1:NM_001301135:exon4:c.G820A:p.A274T,MTERF1:NM_006980:exon3:c.G880A:p.A294T,MTERF1:NM_001301134:exon2:c.G820A:p.A274T,	MTERF:uc010leu.1:exon2:c.G820A:p.A274T,MTERF:uc011khm.1:exon4:c.G820A:p.A274T,MTERF:uc003ulc.1:exon3:c.G880A:p.A294T,	UNKNOWN	Het;C>T	1758;75|81	Het;C>T	1573;79|68	Hom;C>T	4848;0|170
N	N	-	7	92028039	92028039	C	A	snp	nonsynonymous SNV	C853A	L285M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	ANKIB1	Ankib1	ENSG00000001629	ankyrin repeat and IBR domain containing 1	chr7:91875548-92030698		Tobacco Use Disorder	 		GO:0000209;protein polyubiquitination;IBA|GO:0016567;protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA	GO:0000151;ubiquitin ligase complex;IBA|GO:0005737;cytoplasm;IBA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ANKIB1	https://www.uniprot.org/uniprot/Q9P2G1			http://www.informatics.jax.org/searchtool/Search.do?query=ANKIB1&submit=Quick%0D%284ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKIB1	rs38794	0.439097	0.4461	0.5147	0.23	3	13	exonic	exonic	exonic	ANKIB1	ANKIB1	ENSG00000001629	nonsynonymous SNV	nonsynonymous SNV	unknown	ANKIB1:NM_019004:exon20:c.C3046A:p.L1016M,	ANKIB1:uc010lew.1:exon9:c.C853A:p.L285M,ANKIB1:uc003ulw.2:exon20:c.C3046A:p.L1016M,	UNKNOWN	Het;C>A	2072;88|92	Het;C>A	1693;89|76	Hom;C>A	4486;0|159
N	N	-	7	93116299	93116299	A	G	snp	nonsynonymous SNV	T49C	S17P	polar,hydrophilic,neutral	hydrophobic,neutral	CALCR	Calcr	ENSG00000004948	calcitonin receptor	chr7:93053799-93204042	This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]	bone loss; body mass; bone density; bladder cancer; Body Weight; null; calcium oxalate stones; bone density; fractures; osteoporosis; arthritis, juvenile; Hypertrophy, Left Ventricular; Alzheimer's disease ; lung cancer ; chronic obstructive pulmonary disease; Bone Mineral Density; breast cancer; decreased fracture risk; bone density; bone density; osteopenia; Femoral Neck Fractures|Fractures, Stress; Osteoporosis, Postmenopausal; kidney stone disease; Osteoporosis; early marginal bone loss around endosseous implants.; Type 2 Diabetes| edema | rosiglitazone; bone mineral density; lung cancer; Myocardial Infarction; periodontitis; osteoporosis, postmenopausal; bone density; Hyperparathyroidism, Secondary; hormone disturbance; Cholesterol, HDL	Haploinsufficiency may result in increased bone density due to increased bone formation. Homozygous inactivation may result in embryonic lethality. Mice homozygous for another disruption allele at this locus show a normal phenotype.	Calcitonin-like ligand receptors	GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0015031;protein transport;IDA|GO:0030279;negative regulation of ossification;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031623;receptor internalization;IDA|GO:0043488;regulation of mRNA stability;IEA|GO:0045762;positive regulation of adenylate cyclase activity;IDA|GO:0051384;response to glucocorticoid;IDA|GO:0072659;protein localization to plasma membrane;IDA	GO:0001669;acrosomal vesicle;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;NAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004872;receptor activity;IDA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004948;calcitonin receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IDA|GO:0032841;calcitonin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CALCR	https://www.uniprot.org/uniprot/P30988		https://www.ncbi.nlm.nih.gov/omim/?term=114131	http://www.informatics.jax.org/searchtool/Search.do?query=CALCR&submit=Quick%0D%336ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CALCR	rs2301680	0.575679	0.5398	0.5177	0.08	1	12	exonic	exonic	exonic	CALCR	CALCR	ENSG00000004948	nonsynonymous SNV	nonsynonymous SNV	unknown	CALCR:NM_001164737:exon4:c.T49C:p.S17P,	CALCR:uc003umv.2:exon4:c.T49C:p.S17P,	UNKNOWN	Het;A>G	179;11|8	Het;A>G	705;40|34	Hom;A>G	2378;0|92
N	N	-	7	97822115	97822115	T	A	snp	nonsynonymous SNV	T2338A	L780M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	LMTK2	Lmtk2	ENSG00000164715	lemur tyrosine kinase 2	chr7:97736197-97838945	The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009]	Chronic renal failure|Kidney Failure, Chronic; prostate cancer; Echocardiography; Body Fat Distribution; null; Body Weights and Measures; Prostatic Neoplasms	Mice homozygous for a null mutation in this gene display partial prenatal lethality, male infertility, and azoospermia.		GO:0001881;receptor recycling;IMP|GO:0006468;protein phosphorylation;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0032456;endocytic recycling;IMP|GO:0033572;transferrin transport;IMP|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045022;early endosome to late endosome transport;IMP|GO:0046777;protein autophosphorylation;IDA	GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030426;growth cone;IEA|GO:0043025;neuronal cell body;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004864;protein phosphatase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0070853;myosin VI binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LMTK2			https://www.ncbi.nlm.nih.gov/omim/?term=610989	http://www.informatics.jax.org/searchtool/Search.do?query=LMTK2&submit=Quick%0D%11372ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LMTK2	rs11765552	0.223842	0.4045	0.4013	0.23	3	13	exonic	exonic	exonic	LMTK2	LMTK2	ENSG00000164715	nonsynonymous SNV	nonsynonymous SNV	unknown	LMTK2:NM_014916:exon11:c.T2338A:p.L780M,	LMTK2:uc003upd.2:exon11:c.T2338A:p.L780M,	UNKNOWN	Het;T>A	2517;99|107	Het;T>A	1499;84|69	Hom;T>A	4534;2|166
N	N	-	7	99757612	99757612	G	A	snp	nonsynonymous SNV	C1400T	A467V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	GAL3ST4	Gal3st4	ENSG00000197093	galactose-3-O-sulfotransferase 4	chr7:99756867-99766373	This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3' position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. [provided by RefSeq, Jul 2008]		 		GO:0006790;sulfur compound metabolic process;NAS|GO:0007267;cell-cell signaling;NAS|GO:0009100;glycoprotein metabolic process;NAS|GO:0009247;glycolipid biosynthetic process;IEA|GO:0009311;oligosaccharide metabolic process;NAS|GO:0030166;proteoglycan biosynthetic process;NAS	GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0001733;galactosylceramide sulfotransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0050656;3'-phosphoadenosine 5'-phosphosulfate binding;NAS|GO:0050694;galactose 3-O-sulfotransferase activity;IDA|GO:0050698;proteoglycan sulfotransferase activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/GAL3ST4			https://www.ncbi.nlm.nih.gov/omim/?term=608235	http://www.informatics.jax.org/searchtool/Search.do?query=GAL3ST4&submit=Quick%0D%16542ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GAL3ST4	rs3823646	0.506589	0.5064	0.5375	0.33	4	12	exonic	exonic	exonic	GAL3ST4	GAL3ST4	ENSG00000197093	nonsynonymous SNV	nonsynonymous SNV	unknown	GAL3ST4:NM_024637:exon4:c.C1400T:p.A467V,	GAL3ST4:uc003utu.3:exon4:c.C1400T:p.A467V,GAL3ST4:uc022aii.1:exon2:c.C1214T:p.A405V,GAL3ST4:uc003utt.3:exon3:c.C1400T:p.A467V,	UNKNOWN	Het;G>A	1073;55|46	Het;G>A	725;42|35	Hom;G>A	2234;0|80
N	N	-	8	104427541	104427541	C	T	snp	nonsynonymous SNV	C323T	P108L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	DCAF13	Dcaf13	ENSG00000164934	DDB1 and CUL4 associated factor 13	chr8:104426942-104455681		Breath Tests; Bone Mineral Density	Mice homozygous for a knock-out allele exhibit pre-implantation lethality with failure of morula compaction.	Neddylation	GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0016567;protein ubiquitination;IC|GO:0042254;ribosome biogenesis;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0080008;Cul4-RING E3 ubiquitin ligase complex;IDA	GO:0003723;RNA binding;IDA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DCAF13			https://www.ncbi.nlm.nih.gov/omim/?term=616196	http://www.informatics.jax.org/searchtool/Search.do?query=DCAF13&submit=Quick%0D%11427ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCAF13	rs3134296	0.222045	0.1424	0.1846	0.11	1	9	exonic	exonic	exonic	DCAF13	DCAF13	ENSG00000164934	nonsynonymous SNV	nonsynonymous SNV	unknown	DCAF13:NM_015420:exon1:c.C323T:p.P108L,	DCAF13:uc003yln.3:exon1:c.C323T:p.P108L,	UNKNOWN	Het;C>T	3523;152|156	Het;C>T	2973;89|125	Hom;C>T	6686;0|248
N	N	-	8	104432545	104432545	A	G	snp	nonsynonymous SNV	A580G	I194V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	DCAF13	Dcaf13	ENSG00000164934	DDB1 and CUL4 associated factor 13	chr8:104426942-104455681		Breath Tests; Bone Mineral Density	Mice homozygous for a knock-out allele exhibit pre-implantation lethality with failure of morula compaction.	Neddylation	GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0016567;protein ubiquitination;IC|GO:0042254;ribosome biogenesis;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0080008;Cul4-RING E3 ubiquitin ligase complex;IDA	GO:0003723;RNA binding;IDA|GO:0030331;estrogen receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DCAF13			https://www.ncbi.nlm.nih.gov/omim/?term=616196	http://www.informatics.jax.org/searchtool/Search.do?query=DCAF13&submit=Quick%0D%11427ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCAF13	rs3134253	0.253395	0.2148	0.2350	0.15	2	13	exonic	exonic	exonic	DCAF13	DCAF13	ENSG00000164934	nonsynonymous SNV	nonsynonymous SNV	unknown	DCAF13:NM_015420:exon2:c.A580G:p.I194V,	DCAF13:uc003yln.3:exon2:c.A580G:p.I194V,	UNKNOWN	Het;A>G	1783;61|72	Het;A>G	1868;100|83	Hom;A>G	4961;0|167
N	N	-	8	108970367	108970367	A	G	snp	nonsynonymous SNV	T365C	L122P	aliphatic,hydrophobic,neutral	hydrophobic,neutral	RSPO2	Rspo2	ENSG00000147655	R-spondin 2	chr8:108911544-109095913	This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Body Weight Changes; Apolipoprotein A-I	Homozygous mice display perinatal lethality, cleft palate, lung hypoplasia, asymmetric limb malformations and abnormal renal development. Heterozygous females display reduced fertility with age.	Regulation of FZD by ubiquitination	GO:0001649;osteoblast differentiation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030177;positive regulation of Wnt signaling pathway;NAS|GO:0030282;bone mineralization;IEA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0042489;negative regulation of odontogenesis of dentin-containing tooth;IEA|GO:0050896;response to stimulus;IEA|GO:0060437;lung growth;IEA|GO:0060441;epithelial tube branching involved in lung morphogenesis;IEA|GO:0060535;trachea cartilage morphogenesis;IEA|GO:0071542;dopaminergic neuron differentiation;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA	GO:0005576;extracellular region;TAS|GO:0009986;cell surface;IEA	GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RSPO2	https://www.uniprot.org/uniprot/Q6UXX9	https://hpo.jax.org/app/browse/search?q=RSPO2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610575	http://www.informatics.jax.org/searchtool/Search.do?query=RSPO2&submit=Quick%0D%9036ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RSPO2	rs601558	0.490216	0.4729	0.5784	0.23	3	13	exonic	exonic	exonic	RSPO2	RSPO2	ENSG00000147655	nonsynonymous SNV	nonsynonymous SNV	unknown	RSPO2:NM_001282863:exon4:c.T365C:p.L122P,RSPO2:NM_178565:exon5:c.T557C:p.L186P,	RSPO2:uc003ymr.3:exon4:c.T365C:p.L122P,RSPO2:uc003yms.3:exon5:c.T557C:p.L186P,RSPO2:uc003ymq.3:exon4:c.T356C:p.L119P,	UNKNOWN	Het;A>G	550;41|27	Het;A>G	895;50|43	Hom;A>G	2231;0|86
N	N	-	8	11301753	11301753	A	C	snp	nonsynonymous SNV	T168G	H56Q	aromatic,polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	FAM167A	Fam167a	ENSG00000154319	family with sequence similarity 167 member A	chr8:11278972-11332224		Tobacco Use Disorder; Lupus Erythematosus, Systemic; Giant Cell Arteritis|Temporal Arteritis; systemic lupus erythematosus; Lupus Erythematosus, Systemic|Scleroderma, Systemic|Systemic lupus erythematosus|Systemic Scleroderma; Arthritis, Rheumatoid; rheumatoid arthritis; Mucocutaneous Lymph Node Syndrome; systemic lupus erythematosus ; diabetes, type 1 ; Lupus Erythematosus, Systemic|Systemic lupus erythematosus	 			GO:0005783;endoplasmic reticulum;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FAM167A	https://www.uniprot.org/uniprot/Q96KS9		https://www.ncbi.nlm.nih.gov/omim/?term=610085	http://www.informatics.jax.org/searchtool/Search.do?query=FAM167A&submit=Quick%0D%9759ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM167A	rs3021513	0.997804	0.9938	0.9950	0.08	1	13	exonic	exonic	exonic	FAM167A	FAM167A	ENSG00000154319	nonsynonymous SNV	nonsynonymous SNV	unknown	FAM167A:NM_053279:exon2:c.T168G:p.H56Q,	FAM167A:uc010lry.1:exon2:c.T168G:p.H56Q,FAM167A:uc003wtw.2:exon2:c.T168G:p.H56Q,	UNKNOWN	Het;A>C	1258;61|50	Het;A>C	1192;51|51	Hom;A>C	2573;0|84
N	N	-	8	125463250	125463250	T	C	snp	nonsynonymous SNV	T82C	W28R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	TRMT12	Trmt12	ENSG00000183665	tRNA methyltransferase 12 homolog	chr8:125463048-125474391	Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TRMT12 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]		 	Synthesis of wybutosine at G37 of tRNA(Phe)	GO:0008033;tRNA processing;IEA		GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0102522;tRNA 4-demethylwyosine alpha-amino-alpha-carboxypropyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRMT12			https://www.ncbi.nlm.nih.gov/omim/?term=611244	http://www.informatics.jax.org/searchtool/Search.do?query=TRMT12&submit=Quick%0D%15040ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRMT12	rs3812475	0.571086	0.5474	0.5124	0.23	3	13	exonic	exonic	exonic	TRMT12	TRMT12	ENSG00000183665	nonsynonymous SNV	nonsynonymous SNV	unknown	TRMT12:NM_017956:exon1:c.T82C:p.W28R,	TRMT12:uc003yra.4:exon1:c.T82C:p.W28R,	UNKNOWN	Het;T>C	1532;66|65	Het;T>C	1325;55|56	Hom;T>C	3260;2|118
N	N	-	8	131124559	131124559	T	C	snp	nonsynonymous SNV	A2182G	I728V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	ASAP1	Asap1	ENSG00000153317	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	chr8:131064353-131455906	This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus; multiple sclerosis; Glomerular Filtration Rate; Multiple Sclerosis; Creatinine	Homozygotes for a gene trapped allele show perinatal lethality, reduced respiratory rate, fetal growth retardation, slow weight gain, delayed bone ossification, reduced adipogenesis and altered in vitro differentiation of mesenchymal progenitor cells into chondrocytes, adipocytes and osteoblasts.	VxPx cargo-targeting to cilium	GO:0030030;cell projection organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0060271;cilium assembly;IMP|GO:0061000;negative regulation of dendritic spine development;IEA|GO:0071803;positive regulation of podosome assembly;IEA|GO:1903527;positive regulation of membrane tubulation;IEA	GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043197;dendritic spine;IEA	GO:0001786;phosphatidylserine binding;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ASAP1	https://www.uniprot.org/uniprot/Q9ULH1		https://www.ncbi.nlm.nih.gov/omim/?term=605953	http://www.informatics.jax.org/searchtool/Search.do?query=ASAP1&submit=Quick%0D%9657ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASAP1	rs966185	0.474441	0.3987	0.4759	0.08	1	13	exonic	exonic	exonic	ASAP1	ASAP1	ENSG00000153317	nonsynonymous SNV	nonsynonymous SNV	unknown	ASAP1:NM_018482:exon24:c.A2182G:p.I728V,ASAP1:NM_001247996:exon25:c.A2161G:p.I721V,	ASAP1:uc003yta.2:exon24:c.A2182G:p.I728V,ASAP1:uc011liw.2:exon25:c.A2161G:p.I721V,ASAP1:uc003ysz.2:exon18:c.A1615G:p.I539V,	UNKNOWN	Het;T>C	2012;72|83	Het;T>C	1548;74|67	Hom;T>C	3864;0|134
N	N	-	8	133089975	133089975	A	G	snp	nonsynonymous SNV	T740C	L247S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	HHLA1	Hhla1	ENSG00000132297	HERV-H LTR-associating 1	chr8:133073733-133123406		Taste	 			GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/HHLA1	https://www.uniprot.org/uniprot/C9JL84		https://www.ncbi.nlm.nih.gov/omim/?term=604109	http://www.informatics.jax.org/searchtool/Search.do?query=HHLA1&submit=Quick%0D%6645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HHLA1	rs2280851	0.745407	0.7604	0.7642	0.17	2	12	exonic	exonic	exonic	HHLA1	HHLA1	ENSG00000132297,ENSG00000258417	nonsynonymous SNV	nonsynonymous SNV	unknown	HHLA1:NM_001145095:exon11:c.T1169C:p.L390S,	HHLA1:uc003yth.2:exon2:c.T740C:p.L247S,HHLA1:uc011liy.1:exon11:c.T1169C:p.L390S,	UNKNOWN	Het;A>G	435;20|22	Het;A>G	211;19|10	Hom;A>G	727;0|25
N	N	-	8	134108546	134108546	T	C	snp	nonsynonymous SNV	T1900C	W634R	aromatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	TG	Tg	ENSG00000042832	thyroglobulin	chr8:133879203-134147147	Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]	Hypothyroidism|POF - Premature ovarian failure|Primary Ovarian Insufficiency; Graves Disease|Thyroiditis, Autoimmune; Graves' disease; Graves disease; Celiac Disease|; Graves Disease; Thyroid Diseases; Graves' disease; thyroiditis, chronic lymphocytic; thyroid cancer; Graves Disease|Hashimoto Disease; congenital goiter and defective TG synthesis.; Tobacco Use Disorder; thyroiditis, chronic lymphocytic; autoimmune thyroid disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Hashimoto Disease; Autoimmune thyroiditis|Thyroiditis, Autoimmune; Tunica Media	Mice homozygous for a spontaneous mutation exhibit enlarged and abnormal thyroid gland, hypothyroidism, and decreased body weight with altered lymphotcyte numbers.		GO:0007165;signal transduction;NAS|GO:0015705;iodide transport;IEA|GO:0030878;thyroid gland development;IEP|GO:0031641;regulation of myelination;IEA|GO:0042403;thyroid hormone metabolic process;IEA|GO:0042446;hormone biosynthetic process;IEA	GO:0005576;extracellular region;IEA	GO:0005179;hormone activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TG	https://www.uniprot.org/uniprot/P01266	https://hpo.jax.org/app/browse/search?q=TG&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=188450	http://www.informatics.jax.org/searchtool/Search.do?query=TG&submit=Quick%0D%840ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TG	rs2069569	0.522364	0.6147	0.5024	0.08	1	13	exonic	exonic	exonic	TG	TG	ENSG00000042832	nonsynonymous SNV	nonsynonymous SNV	unknown	TG:NM_003235:exon43:c.T7501C:p.W2501R,	TG:uc011ljc.2:exon14:c.T1900C:p.W634R,TG:uc010mdw.3:exon30:c.T3778C:p.W1260R,TG:uc003ytw.3:exon43:c.T7501C:p.W2501R,TG:uc011ljb.2:exon22:c.T2608C:p.W870R,	UNKNOWN	Het;T>C	1585;50|68	Het;T>C	1387;57|66	Hom;T>C	3038;1|117
N	N	-	8	142185580	142185580	G	A	snp	nonsynonymous SNV	G1369A	G457S	aliphatic,neutral	polar,hydrophilic,neutral	DENND3	Dennd3	ENSG00000105339	DENN domain containing 3	chr8:142127377-142205907		Tobacco Use Disorder	 	RAB GEFs exchange GTP for GDP on RABs	GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS	GO:0005829;cytosol;TAS	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/DENND3	https://www.uniprot.org/uniprot/A2RUS2		https://www.ncbi.nlm.nih.gov/omim/?term=617503	http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3	rs12675070	0.28135	0.2867	0.2933	1	0	0	intronic	exonic	intronic	DENND3	DENND3	ENSG00000105339	Na	nonsynonymous SNV	Na	Na	DENND3:uc003yvz.1:exon6:c.G1369A:p.G457S,	Na	Het;G>A	769;21|30	Het;G>A	362;14|14	Hom;G>A	1069;0|40
N	N	-	8	143867905	143867905	C	T	snp	nonsynonymous SNV	G28A	A10T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	LY6D	Ly6d	ENSG00000167656	lymphocyte antigen 6 family member D	chr8:143866296-143868008		HIV Infections|[X]Human immunodeficiency virus disease	 	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS|GO:0007155;cell adhesion;TAS|GO:0030098;lymphocyte differentiation;IEA|GO:0035634;response to stilbenoid;IEA	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;TAS|GO:0031225;anchored component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LY6D			https://www.ncbi.nlm.nih.gov/omim/?term=606204	http://www.informatics.jax.org/searchtool/Search.do?query=LY6D&submit=Quick%0D%12072ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LY6D	rs2572925	0.361821	0.3886	0.3801	0.23	3	13	exonic	exonic	exonic	LY6D	LY6D	ENSG00000167656	nonsynonymous SNV	nonsynonymous SNV	unknown	LY6D:NM_003695:exon1:c.G28A:p.A10T,	LY6D:uc003yxf.1:exon1:c.G28A:p.A10T,	UNKNOWN	Het;C>T	313;21|16	Het;C>T	172;19|12	Hom;C>T	524;1|21
N	N	-	8	144406705	144406705	C	T	snp	nonsynonymous SNV	G472A	V158I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	TOP1MT	Top1mt	ENSG00000184428	topoisomerase (DNA) I, mitochondrial	chr8:144386554-144442149	This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]	Acquired Immunodeficiency Syndrome|Disease Progression; esophageal adenocarcinoma	Mice homozygous for a null allele display increased oxidative stress and lipid peroxidation, enhanced glycolysis, and mitochondrial abnormalities.		GO:0006260;DNA replication;IBA|GO:0006265;DNA topological change;IEA	GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005739;mitochondrion;IEA|GO:0042645;mitochondrial nucleoid;IDA	GO:0003677;DNA binding;IEA|GO:0003916;DNA topoisomerase activity;IEA|GO:0003917;DNA topoisomerase type I activity;IEA|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TOP1MT			https://www.ncbi.nlm.nih.gov/omim/?term=606387	http://www.informatics.jax.org/searchtool/Search.do?query=TOP1MT&submit=Quick%0D%15204ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TOP1MT	rs11544484	0.275759	0.3541	0.2706	0.08	1	13	exonic	exonic	exonic	TOP1MT	TOP1MT	ENSG00000184428	nonsynonymous SNV	nonsynonymous SNV	unknown	TOP1MT:NM_052963:exon6:c.G766A:p.V256I,TOP1MT:NM_001258447:exon6:c.G472A:p.V158I,TOP1MT:NM_001258446:exon7:c.G472A:p.V158I,	TOP1MT:uc011lkd.3:exon7:c.G472A:p.V158I,TOP1MT:uc011lkf.2:exon2:c.G151A:p.V51I,TOP1MT:uc003yxz.4:exon6:c.G766A:p.V256I,TOP1MT:uc011lke.3:exon6:c.G472A:p.V158I,TOP1MT:uc010mfd.2:exon6:c.G151A:p.V51I,	UNKNOWN	Het;C>T	1962;100|93	Het;C>T	1262;88|63	Hom;C>T	4153;0|152
N	N	-	8	144942903	144942903	T	C	snp	nonsynonymous SNV	A4519G	T1507A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	EPPK1	Eppk1	ENSG00000261150	epiplakin 1	chr8:144939497-144952632	The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013]		Mice homozygous for a null allele exhbit normal skin morphology.  Mice homozygous for a reporter knock-in allele exhibit enhanced wound healing associated with increased keratinocyte migration.			GO:0005856;cytoskeleton;IEA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0008092;cytoskeletal protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPPK1			https://www.ncbi.nlm.nih.gov/omim/?term=607553	http://www.informatics.jax.org/searchtool/Search.do?query=EPPK1&submit=Quick%0D%20399ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPPK1	rs6558399	0.685304	0.7702	0.7511	0.25	2	8	exonic	exonic	exonic	EPPK1	EPPK1	ENSG00000227184	nonsynonymous SNV	nonsynonymous SNV	unknown	EPPK1:NM_031308:exon2:c.A4519G:p.T1507A,	EPPK1:uc003zaa.1:exon1:c.A4519G:p.T1507A,	UNKNOWN	Het;T>C	3059;109|120	Het;T>C	2035;75|82	Hom;T>C	5912;2|199
N	N	-	8	145639726	145639726	T	C	snp	nonsynonymous SNV	A241G	T81A	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	SLC39A4	Slc39a4	ENSG00000147804	solute carrier family 39 member 4	chr8:145635126-145642279	This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]	Abortion, Spontaneous	Mice homozygous for a null allele exhibit embryonic letahlity around E10.  Mice heterozygous for a null allele exhibit developmental defects similar to the teratology of zinc deficiency.	Zinc influx into cells by the SLC39 gene family	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006829;zinc II ion transport;IEA|GO:0006882;cellular zinc ion homeostasis;IEA|GO:0007165;signal transduction;IBA|GO:0030001;metal ion transport;IEA|GO:0034224;cellular response to zinc ion starvation;IEA|GO:0055085;transmembrane transport;IEA|GO:0071578;zinc II ion transmembrane import;IBA	GO:0005768;endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0055038;recycling endosome membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005385;zinc ion transmembrane transporter activity;TAS|GO:0046873;metal ion transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC39A4	https://www.uniprot.org/uniprot/Q6P5W5	https://hpo.jax.org/app/browse/search?q=SLC39A4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607059	http://www.informatics.jax.org/searchtool/Search.do?query=SLC39A4&submit=Quick%0D%9048ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC39A4	rs2272662	0.39357	0.4314	0.5491	0.08	1	13	exonic	exonic	exonic	SLC39A4	SLC39A4	ENSG00000147804	nonsynonymous SNV	nonsynonymous SNV	unknown	SLC39A4:NM_130849:exon6:c.A1069G:p.T357A,SLC39A4:NM_017767:exon5:c.A994G:p.T332A,	SLC39A4:uc003zco.3:exon2:c.A241G:p.T81A,SLC39A4:uc003zcq.3:exon6:c.A1069G:p.T357A,SLC39A4:uc003zcp.3:exon5:c.A994G:p.T332A,	UNKNOWN	Het;T>C	1332;55|65	Het;T>C	494;49|27	Hom;T>C	2616;0|93
N	N	-	8	17739538	17739538	T	C	snp	nonsynonymous SNV	A214G	I72V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	FGL1	Fgl1	ENSG00000104760	fibrinogen like 1	chr8:17721889-17767874	Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; longevity; Coronary Disease|Coronary heart disease; hepatocellular carcinoma; Type 2 Diabetes| edema | rosiglitazone; hepatitis C	Mice homozygous for one null allele exhibit increased body weight, white fat and gluconeogenesis, decreased circulating cholesterol, free fatty acid level and respiratory quotient, hyperglycemia, and impaired glucose tolerance. Mice homozygous for a second null allele display normal appearance with age-related onset of dermatitis.			GO:0005576;extracellular region;IEA|GO:0005577;fibrinogen complex;TAS|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/FGL1	https://www.uniprot.org/uniprot/Q08830		https://www.ncbi.nlm.nih.gov/omim/?term=605776	http://www.informatics.jax.org/searchtool/Search.do?query=FGL1&submit=Quick%0D%3160ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGL1	rs3739406	0.412141	0.5554	0.5552	0.08	1	13	exonic	exonic	exonic	FGL1	FGL1	ENSG00000104760	nonsynonymous SNV	nonsynonymous SNV	unknown	FGL1:NM_201552:exon4:c.A214G:p.I72V,FGL1:NM_147203:exon3:c.A214G:p.I72V,FGL1:NM_201553:exon4:c.A214G:p.I72V,FGL1:NM_004467:exon3:c.A214G:p.I72V,	FGL1:uc003wxy.3:exon3:c.A214G:p.I72V,FGL1:uc003wya.3:exon4:c.A214G:p.I72V,FGL1:uc003wye.3:exon5:c.A364G:p.I122V,FGL1:uc003wxx.3:exon4:c.A214G:p.I72V,FGL1:uc003wyb.3:exon3:c.A214G:p.I72V,	UNKNOWN	Het;T>C	697;44|33	Het;T>C	450;29|23	Hom;T>C	1864;0|70
N	N	-	8	2048831	2048831	A	G	snp	nonsynonymous SNV	A881G	N294S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MYOM2	Myom2	ENSG00000274137	myomesin 2	chr8:1993155-2113475	The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]	Hematocrit; Erythrocyte Count; Respiratory Function Tests; Cholesterol; Emphysema; Lipoproteins; Stroke; Cholesterol, LDL	 		GO:0006936;muscle contraction;TAS|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IEA|GO:0032982;myosin filament;IEA	GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0019900;kinase binding;IPI|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MYOM2	https://www.uniprot.org/uniprot/P54296		https://www.ncbi.nlm.nih.gov/omim/?term=603509	http://www.informatics.jax.org/searchtool/Search.do?query=MYOM2&submit=Quick%0D%21051ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOM2	rs968381	0.460463	0.4368	0.3753	1	0	0	exonic	exonic	exonic	MYOM2	MYOM2	ENSG00000036448	nonsynonymous SNV	nonsynonymous SNV	unknown	MYOM2:NM_003970:exon20:c.A2606G:p.N869S,	MYOM2:uc011kwi.2:exon7:c.A881G:p.N294S,MYOM2:uc003wpx.4:exon20:c.A2606G:p.N869S,	UNKNOWN	Het;A>G	1164;52|46	Het;A>G	1027;37|43	Hom;A>G	3079;0|71
N	N	-	8	6302154	6302154	G	T	snp	nonsynonymous SNV	G767T	R256I	polar,hydrophilic,charged(+)	aliphatic,hydrophobic,neutral	MCPH1	Mcph1	ENSG00000147316	microcephalin 1	chr8:6264113-6501144	This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]	Mental Retardation|Microcephaly; Multiple System Atrophy; Micrencephaly |Microcephaly; smoking cessation; Hypercholesterolemia|LDLC levels; Adenocarcinoma|Pancreatic Neoplasms; Microcephaly; brain size; Tobacco Use Disorder; breast cancer; cognitive function head circumference social intelligence; Coronary Artery Disease|; atherosclerosis	Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis. Mice homozygous for another knock-out allele exhibit microcephaly, infertility, decreased brain size, impaired neuroprogenitor proliferation and apoptosis, and mitosis.	Condensation of Prophase Chromosomes	GO:0021987;cerebral cortex development;IEA|GO:0071850;mitotic cell cycle arrest;IDA	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MCPH1	https://www.uniprot.org/uniprot/Q8NEM0	https://hpo.jax.org/app/browse/search?q=MCPH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607117	http://www.informatics.jax.org/searchtool/Search.do?query=MCPH1&submit=Quick%0D%8985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCPH1	rs2083914	0.0702875	0.1182	0.1153	0.46	6	13	exonic	exonic	exonic	MCPH1	MCPH1	ENSG00000147316	nonsynonymous SNV	nonsynonymous SNV	unknown	MCPH1:NM_001172574:exon8:c.G911T:p.R304I,MCPH1:NM_001172575:exon7:c.G767T:p.R256I,MCPH1:NM_024596:exon8:c.G911T:p.R304I,	MCPH1:uc011kwl.2:exon7:c.G767T:p.R256I,MCPH1:uc003wqi.3:exon8:c.G911T:p.R304I,MCPH1:uc003wqh.3:exon8:c.G911T:p.R304I,	UNKNOWN	Het;G>T	2540;65|105	Ref		Hom;G>T	5191;1|189
N	N	-	8	6338306	6338306	C	A	snp	nonsynonymous SNV	C2045A	T682N	polar,hydrophilic,neutral	polar,hydrophilic,neutral	MCPH1	Mcph1	ENSG00000147316	microcephalin 1	chr8:6264113-6501144	This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]	Mental Retardation|Microcephaly; Multiple System Atrophy; Micrencephaly |Microcephaly; smoking cessation; Hypercholesterolemia|LDLC levels; Adenocarcinoma|Pancreatic Neoplasms; Microcephaly; brain size; Tobacco Use Disorder; breast cancer; cognitive function head circumference social intelligence; Coronary Artery Disease|; atherosclerosis	Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis. Mice homozygous for another knock-out allele exhibit microcephaly, infertility, decreased brain size, impaired neuroprogenitor proliferation and apoptosis, and mitosis.	Condensation of Prophase Chromosomes	GO:0021987;cerebral cortex development;IEA|GO:0071850;mitotic cell cycle arrest;IDA	GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MCPH1	https://www.uniprot.org/uniprot/Q8NEM0	https://hpo.jax.org/app/browse/search?q=MCPH1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607117	http://www.informatics.jax.org/searchtool/Search.do?query=MCPH1&submit=Quick%0D%8985ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MCPH1	rs12674488	0.146366	0.1330	0.1522	0.38	5	13	exonic	exonic	exonic	MCPH1	MCPH1	ENSG00000147316	nonsynonymous SNV	nonsynonymous SNV	unknown	MCPH1:NM_024596:exon11:c.C2045A:p.T682N,	MCPH1:uc003wqi.3:exon11:c.C2045A:p.T682N,	UNKNOWN	Het;C>A	1219;80|61	Ref		Hom;C>A	3519;0|133
N	N	-	8	6690276	6690276	T	C	snp	nonsynonymous SNV	A205G	M69V	hydrophobic,neutral	aliphatic,hydrophobic,neutral	XKR5	Xkr5	ENSG00000275591	XK related 5	chr8:6666038-6693166			 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/XKR5				http://www.informatics.jax.org/searchtool/Search.do?query=XKR5&submit=Quick%0D%21394ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XKR5	rs2741098	0.669329	0.6328	0.5717	0.00	0	3	exonic	exonic	ncRNA_exonic	XKR5	XKR5	ENSG00000186530	nonsynonymous SNV	nonsynonymous SNV	Na	XKR5:NM_207411:exon2:c.A205G:p.M69V,	XKR5:uc022aqv.1:exon2:c.A205G:p.M69V,	Na	Het;T>C	1720;62|73	Ref		Hom;T>C	3008;1|113
N	N	-	8	6699486	6699486	C	G	snp	nonsynonymous SNV	C195G	S65R	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	LOC100652791																		rs2951830	0.327077	0	0	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	GS1-24F4.2	LOC100652791	ENSG00000245857	Na	nonsynonymous SNV	Na	Na	LOC100652791:uc022aqw.2:exon3:c.C195G:p.S65R,	Na	Het;C>G	2377;130|98	Ref		Hom;C>G	5061;0|181
N	N	-	8	6699538	6699538	T	C	snp	nonsynonymous SNV	T247C	C83R	polar,hydrophobic,neutral	polar,hydrophilic,charged(+)	LOC100652791																		rs2702846	0.577476	0	0	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	GS1-24F4.2	LOC100652791	ENSG00000245857	Na	nonsynonymous SNV	Na	Na	LOC100652791:uc022aqw.2:exon3:c.T247C:p.C83R,	Na	Het;T>C	2886;142|127	Ref		Hom;T>C	6046;0|214
N	N	-	8	96047806	96047806	T	TA	indel	splicing	264+2T>TA	 	 	 	NDUFAF6	Ndufaf6	ENSG00000156170	NADH:ubiquinone oxidoreductase complex assembly factor 6	chr8:95907995-96128683	This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]	Waist-Hip Ratio; Acquired Immunodeficiency Syndrome|Disease Progression; Response to radiation	 	Complex I biogenesis	GO:0009058;biosynthetic process;IEA|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA	GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NDUFAF6	https://www.uniprot.org/uniprot/Q330K2	https://hpo.jax.org/app/browse/search?q=NDUFAF6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612392	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFAF6&submit=Quick%0D%9948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFAF6	rs34960210	0.63758	0.5706	0.5179	1	0	0	splicing	splicing	splicing	NDUFAF6(NM_152416:exon3:c.420+2T>TA)	NDUFAF6(uc003yhi.3:exon4:c.264+2T>TA,uc003yhj.3:exon3:c.420+2T>TA)	ENSG00000156170(ENST00000523378:exon5:c.144+2T>TA,ENST00000396113:exon9:c.144+2T>TA,ENST00000519136:exon5:c.87+2T>TA,ENST00000396111:exon4:c.144+2T>TA,ENST00000542894:exon3:c.264+2T>TA,ENST00000396124:exon3:c.420+2T>TA,ENST00000518258:exon4:c.539+2T>TA,ENST00000523337:exon4:c.539+2T>TA,ENST00000517976:exon3:c.412+2T>TA,ENST00000520632:exon3:c.400+2T>TA,ENST00000522683:exon4:c.482+2T>TA,ENST00000520757:exon3:c.361+2T>TA,ENST00000454358:exon3:c.365+2T>TA,ENST00000518608:exon2:c.261+2T>TA,ENST00000519804:exon2:c.87+2T>TA)	Na	Na	Na	Na	Na	Na	Het;+A	429;7|22	Het;+A	259;6|15	Hom;+A	298;2|15
N	N	-	9	107562804	107562804	T	C	snp	nonsynonymous SNV	A4760G	K1587R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	ABCA1	Abca1	ENSG00000165029	ATP binding cassette subfamily A member 1	chr9:107543283-107690518	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway.  Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]	Coronary Artery Disease; Cholesterol, HDL; lung cancer ; bladder cancer; Forced Vital Capacity; Dementia; Coronary Disease|Coronary heart disease|Hyperlipidemias; myocardial infarct; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; diabetes, type 2; Cerebral Infarction|Hypertension|Intracranial Arteriosclerosis; cholesterol, HDL; triglycerides; cholesterol, HDL; triglycerides; atherosclerosis, coronary; Cholesterol, HDL/blood*; Coronary Artery Disease|Disease Susceptibility; Dyslipidemias|Hypertriglyceridemia; Alzheimer's Disease; lipid profiles; lipoproteins and HDL; Apoplexy|Brain Ischemia|Stroke; Myocardial ischemia; Coronary Stenosis; Forced Expiratory Volume; Kidney Failure, Chronic; Insulin Resistance; chronic obstructive pulmonary disease; hypercholesterolemia; cholesterol; cholesterol, HDL; triglycerides; Cardiovascular Diseases; metabolic syndrome; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia; drug-related genes ; Dyslipidemias|Nephrotic Syndrome; Breast Neoplasms|Radiodermatitis; Brain Ischemia|Cerebral Hemorrhage|Stroke; plasma HDL cholesterol (HDL-C) levels; cholesterol; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Hypolipoproteinemias|lipoprotein; deficiency; Coronary Stenosis|Diabetes Complications; Myocardial Infarction; Tobacco Use Disorder; cholesterol, HDL; arterial-wall changes; cholesterol efflux; heart disease, ischemic; Cholesterol; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; Alzheimer's disease ; Atherosclerosis|Hyperlipidemias; Chronic renal failure|Kidney Failure, Chronic; Eosinophils; Alzheimer's disease; Cholesterol, LDL; patent ductus arteriosus; Type 2 diabetes; Tangier Disease; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Diseases in Twins|Obstetric Labor, Premature; Alzheimer Disease; cholesterol, HDL hypertriglyceridemia triglycerides; Perioperative genomic profiles ; hypertension; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Lipoproteins, HDL; coronary artery disease; Lipid Metabolism; cholesterol, HDL cholesterol, LDL; high density lipoprotein cholesterol level; macular degeneration; schizophrenia; Cleft Lip|Cleft Palate; coronary heart disease; atherosclerosis, carotid; atherosclerosis; cholesterol, HDL; atherosclerosis, coronary; fluvastatin induced cholesterol changes; dementia; Type 2 Diabetes| edema | rosiglitazone; age and adiposity; Cerebral Infarction|Dementia|Hypoalphalipoproteinemias|Intracranial Arteriosclerosis|Intracranial Thrombosis; null; Macular Degeneration; Atherosclerosis; Glomerulonephritis, IGA; Coronary Disease|Coronary heart disease; cholesterol, HDL; Hyperlipidemias; Myocardial Ischemia; HDL cholesterol; Obesity|Overweight; atherosclerosis, coronary; triglycerides; body mass; cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides; familial hypercholesterolaemia; lung cancer; plasma HDL-C levels; Metabolic Syndrome X; Carotid Artery Diseases|; Angina pectoris|Apoplexy|Myocardial Infarction|Stroke; Alzheimer's disease apolipoprotein E levels; Coronary Disease; Acute Coronary Syndrome|	Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects.	HDL assembly	GO:0002790;peptide secretion;IEA|GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007040;lysosome organization;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IMP|GO:0007584;response to nutrient;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;TAS|GO:0010875;positive regulation of cholesterol efflux;IMP|GO:0010887;negative regulation of cholesterol storage;TAS|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;IEA|GO:0016197;endosomal transport;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030301;cholesterol transport;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IMP|GO:0032367;intracellular cholesterol transport;IMP|GO:0032489;regulation of Cdc42 protein signal transduction;IMP|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:0034616;response to laminar fluid shear stress;IEP|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0043691;reverse cholesterol transport;IMP|GO:0045332;phospholipid translocation;IDA|GO:0050702;interleukin-1 beta secretion;IMP|GO:0055085;transmembrane transport;IEA|GO:0055091;phospholipid homeostasis;IMP|GO:0055098;response to low-density lipoprotein particle;IEP|GO:0060155;platelet dense granule organization;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071397;cellular response to cholesterol;IEA|GO:0090107;regulation of high-density lipoprotein particle assembly;TAS|GO:0098656;anion transmembrane transport;IEA	GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0034364;high-density lipoprotein particle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0045121;membrane raft;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0000166;nucleotide binding;IEA|GO:0005102;receptor binding;IPI|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005543;phospholipid binding;IC|GO:0005548;phospholipid transporter activity;IDA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015485;cholesterol binding;IC|GO:0016887;ATPase activity;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0019905;syntaxin binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0034185;apolipoprotein binding;IPI|GO:0034186;apolipoprotein A-I binding;IPI|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA|GO:0051117;ATPase binding;IPI|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ABCA1		https://hpo.jax.org/app/browse/search?q=ABCA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600046	http://www.informatics.jax.org/searchtool/Search.do?query=ABCA1&submit=Quick%0D%11450ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA1	rs2230808	0.538339	0.5850	0.6936	0.46	6	13	exonic	exonic	exonic	ABCA1	ABCA1	ENSG00000165029	nonsynonymous SNV	nonsynonymous SNV	unknown	ABCA1:NM_005502:exon35:c.A4760G:p.K1587R,	ABCA1:uc004bcl.3:exon35:c.A4760G:p.K1587R,	UNKNOWN	Het;T>C	536;18|21	Het;T>C	533;25|26	Hom;T>C	1352;0|51
N	N	-	9	111641825	111641825	G	A	snp	nonsynonymous SNV	C2426T	P809L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	IKBKAP	Ikbkap	ENSG00000070061	elongator complex protein 1	chr9:111629797-111696396	The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]	Arthritis, Rheumatoid; respiratory syncytial virus bronchiolitis; Body Weight; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Hereditary Sensory and Autonomic Neuropathies; bronchodilator response; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Rheumatoid|; blood pressure, arterial hypertension; Bronchial asthma (childhood & adult); Congenital Heart Defects|Heart Defects, Congenital; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchial asthma (childhood only); familial dysautonomia; Genetic Diseases, Inborn; Congenital Megacolon|Hirschsprung Disease|Urea Cycle Disorders, Inborn; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development.	HATs acetylate histones	GO:0002098;tRNA wobble uridine modification;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006461;protein complex assembly;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0045859;regulation of protein kinase activity;IEA	GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0008023;transcription elongation factor complex;IDA|GO:0033588;Elongator holoenzyme complex;IEA	GO:0000993;RNA polymerase II core binding;IDA|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008607;phosphorylase kinase regulator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IKBKAP	https://www.uniprot.org/uniprot/O95163		https://www.ncbi.nlm.nih.gov/omim/?term=603722	http://www.informatics.jax.org/searchtool/Search.do?query=IKBKAP&submit=Quick%0D%1341ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IKBKAP	rs1538660	0.245008	0.2119	0.1988	0.15	2	13	exonic	exonic	exonic	IKBKAP	IKBKAP	ENSG00000070061	nonsynonymous SNV	nonsynonymous SNV	unknown	IKBKAP:NM_003640:exon33:c.C3473T:p.P1158L,	IKBKAP:uc004bdl.3:exon25:c.C2426T:p.P809L,IKBKAP:uc004bdm.4:exon33:c.C3473T:p.P1158L,IKBKAP:uc011lwc.2:exon33:c.C3131T:p.P1044L,IKBKAP:uc010mtq.3:exon26:c.C2426T:p.P809L,IKBKAP:uc004bdk.3:exon6:c.C485T:p.P162L,	UNKNOWN	Het;G>A	1974;73|85	Het;G>A	1608;83|73	Hom;G>A	4256;4|152
N	N	-	9	111651620	111651620	A	T	snp	nonsynonymous SNV	T2167A	C723S	polar,hydrophobic,neutral	polar,hydrophilic,neutral	IKBKAP	Ikbkap	ENSG00000070061	elongator complex protein 1	chr9:111629797-111696396	The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]	Arthritis, Rheumatoid; respiratory syncytial virus bronchiolitis; Body Weight; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Hereditary Sensory and Autonomic Neuropathies; bronchodilator response; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Rheumatoid|; blood pressure, arterial hypertension; Bronchial asthma (childhood & adult); Congenital Heart Defects|Heart Defects, Congenital; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchial asthma (childhood only); familial dysautonomia; Genetic Diseases, Inborn; Congenital Megacolon|Hirschsprung Disease|Urea Cycle Disorders, Inborn; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development.	HATs acetylate histones	GO:0002098;tRNA wobble uridine modification;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006461;protein complex assembly;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0045859;regulation of protein kinase activity;IEA	GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0008023;transcription elongation factor complex;IDA|GO:0033588;Elongator holoenzyme complex;IEA	GO:0000993;RNA polymerase II core binding;IDA|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008607;phosphorylase kinase regulator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IKBKAP	https://www.uniprot.org/uniprot/O95163		https://www.ncbi.nlm.nih.gov/omim/?term=603722	http://www.informatics.jax.org/searchtool/Search.do?query=IKBKAP&submit=Quick%0D%1341ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IKBKAP	rs3204145	0.245807	0.2125	0.1984	0.46	6	13	exonic	exonic	exonic	IKBKAP	IKBKAP	ENSG00000070061	nonsynonymous SNV	nonsynonymous SNV	unknown	IKBKAP:NM_003640:exon29:c.T3214A:p.C1072S,	IKBKAP:uc004bdl.3:exon21:c.T2167A:p.C723S,IKBKAP:uc004bdm.4:exon29:c.T3214A:p.C1072S,IKBKAP:uc011lwc.2:exon29:c.T2872A:p.C958S,IKBKAP:uc010mtq.3:exon22:c.T2167A:p.C723S,IKBKAP:uc004bdk.3:exon2:c.T226A:p.C76S,	UNKNOWN	Het;A>T	367;32|20	Het;A>T	305;43|18	Hom;A>T	1432;4|58
N	N	-	9	112082510	112082510	C	T	snp	nonsynonymous SNV	G217A	V73M	aliphatic,hydrophobic,neutral	hydrophobic,neutral	EPB41L4B	Epb41l4b	ENSG00000095203	erythrocyte membrane protein band 4.1 like 4B	chr9:111934255-112083244		Tobacco Use Disorder	 		GO:0010628;positive regulation of gene expression;IMP|GO:0031032;actomyosin structure organization;IDA|GO:0042060;wound healing;IDA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0051549;positive regulation of keratinocyte migration;IMP	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045177;apical part of cell;IDA	GO:0005200;structural constituent of cytoskeleton;TAS|GO:0008092;cytoskeletal protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EPB41L4B	https://www.uniprot.org/uniprot/Q9H329		https://www.ncbi.nlm.nih.gov/omim/?term=610340	http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L4B&submit=Quick%0D%2237ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L4B	rs117569740	0.0938498	0.0856	0.2446	0.50	6	12	exonic	exonic	exonic	EPB41L4B	EPB41L4B	ENSG00000095203	nonsynonymous SNV	nonsynonymous SNV	unknown	EPB41L4B:NM_019114:exon1:c.G217A:p.V73M,EPB41L4B:NM_018424:exon1:c.G217A:p.V73M,	EPB41L4B:uc004bdz.1:exon1:c.G217A:p.V73M,EPB41L4B:uc004bea.3:exon1:c.G217A:p.V73M,	UNKNOWN	Het;C>T	407;12|21	Ref		Hom;C>T	532;0|20
N	N	-	9	113261483	113261483	C	T	snp	nonsynonymous SNV	G1519A	V507I	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	SVEP1	Svep1	ENSG00000165124	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	chr9:113127531-113342160		Congenital Megacolon|Hirschsprung Disease|Urea Cycle Disorders, Inborn; Tobacco Use Disorder	Homozygous inactivation of this gene results in complete preweaning lethality, edema, abnormal skin coloration, thick epidermis, acanthosis, tail/limb abnormalities, and defects in lymphatic vascular development and valve formation.		GO:0007155;cell adhesion;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA	GO:0003682;chromatin binding;IEA|GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SVEP1			https://www.ncbi.nlm.nih.gov/omim/?term=611691	http://www.informatics.jax.org/searchtool/Search.do?query=SVEP1&submit=Quick%0D%11473ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SVEP1	rs872665	0.267572	0.2728	0.2535	0.54	7	13	exonic	exonic	exonic	SVEP1	SVEP1	ENSG00000165124	nonsynonymous SNV	nonsynonymous SNV	unknown	SVEP1:NM_153366:exon7:c.G1519A:p.V507I,	SVEP1:uc010mtz.3:exon7:c.G1519A:p.V507I,SVEP1:uc010mua.1:exon7:c.G1519A:p.V507I,SVEP1:uc004beu.2:exon7:c.G1519A:p.V507I,	UNKNOWN	Het;C>T	1525;82|72	Het;C>T	1580;90|77	Hom;C>T	4879;0|187
N	N	-	9	114174415	114174415	T	C	snp	nonsynonymous SNV	A2627G	N876S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	KIAA0368	AI314180	ENSG00000136813	KIAA0368	chr9:114122972-114247025		Tobacco Use Disorder; Neuropsychological Tests; Cholesterol	 		GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0043248;proteasome assembly;IEA	GO:0000502;proteasome complex;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005771;multivesicular body;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;IDA|GO:0030139;endocytic vesicle;IDA|GO:0031410;cytoplasmic vesicle;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0032947;protein complex scaffold;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KIAA0368	https://www.uniprot.org/uniprot/Q5VYK3		https://www.ncbi.nlm.nih.gov/omim/?term=616694	http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0368&submit=Quick%0D%7404ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0368	rs2418163	0.40635	0.4557	0.4615	0.23	3	13	exonic	exonic	exonic	KIAA0368	KIAA0368	ENSG00000136813	nonsynonymous SNV	nonsynonymous SNV	unknown	KIAA0368:NM_001080398:exon22:c.A2627G:p.N876S,	KIAA0368:uc004bfe.1:exon22:c.A2627G:p.N876S,	UNKNOWN	Het;T>C	838;51|38	Het;T>C	1720;66|74	Hom;T>C	3138;1|116
N	N	-	9	117050998	117050998	G	A	snp	nonsynonymous SNV	G4061A	R1354Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	COL27A1	Col27a1	ENSG00000196739	collagen type XXVII alpha 1 chain	chr9:116917840-117074791	This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]	Cleft Lip|Cleft Palate|Tooth Abnormalities; Lipoproteins, HDL; Lipids; Body Height; Cholesterol, HDL; Tobacco Use Disorder; height; Triglycerides	Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia.	Collagen chain trimerization	GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005583;fibrillar collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS	GO:0005201;extracellular matrix structural constituent;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL27A1		https://hpo.jax.org/app/browse/search?q=COL27A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608461	http://www.informatics.jax.org/searchtool/Search.do?query=COL27A1&submit=Quick%0D%16453ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL27A1	rs10982134	0.423722	0.3005	0.3927	0.25	3	12	exonic	exonic	exonic	COL27A1	COL27A1	ENSG00000196739	nonsynonymous SNV	nonsynonymous SNV	unknown	COL27A1:NM_032888:exon43:c.G4061A:p.R1354Q,	COL27A1:uc011lxl.2:exon43:c.G4061A:p.R1354Q,	UNKNOWN	Het;G>A	966;55|43	Ref		Hom;G>A	2806;0|101
N	N	-	9	117085526	117085526	G	A	snp	nonsynonymous SNV	G113A	R38Q	polar,hydrophilic,charged(+)	polar,hydrophilic,neutral	ORM1		ENSG00000229314	orosomucoid 1	chr9:117085336-117088755	This gene encodes a key acute phase plasma protein.  Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant.  The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008]	Thrombosis; major depressive disorder; Body Weight|Gastrointestinal Stromal Tumors; warfarin sensitivity; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; warfarin response		Neutrophil degranulation	GO:0002576;platelet degranulation;TAS|GO:0002682;regulation of immune system process;IEA|GO:0006810;transport;IEA|GO:0006953;acute-phase response;TAS|GO:0006954;inflammatory response;TAS|GO:0032715;negative regulation of interleukin-6 production;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0043312;neutrophil degranulation;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0031093;platelet alpha granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1904724;tertiary granule lumen;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ORM1			https://www.ncbi.nlm.nih.gov/omim/?term=138600	http://www.informatics.jax.org/searchtool/Search.do?query=ORM1&submit=Quick%0D%18901ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ORM1	rs17650	0	0	0.6486	0.10	1	10	exonic	exonic	exonic	ORM1	ORM1	ENSG00000229314	nonsynonymous SNV	nonsynonymous SNV	unknown	ORM1:NM_000607:exon1:c.G113A:p.R38Q,	ORM1:uc011lxo.2:exon1:c.G113A:p.R38Q,ORM1:uc004bik.4:exon1:c.G113A:p.R38Q,	UNKNOWN	Het;G>A	1586;73|78	Ref		Hom;G>A	3212;0|120
N	N	-	9	117166206	117166206	G	T	snp	nonsynonymous SNV	C1335A	N445K	polar,hydrophilic,neutral	polar,hydrophilic,charged(+)	DFNB31	Whrn																	rs2274158	0.222444	0.1799	0.2476	0.08	1	13	exonic	exonic	exonic	DFNB31	DFNB31	ENSG00000095397	nonsynonymous SNV	nonsynonymous SNV	unknown	DFNB31:NM_015404:exon10:c.C2388A:p.N796K,DFNB31:NM_001083885:exon10:c.C1239A:p.N413K,DFNB31:NM_001173425:exon10:c.C2385A:p.N795K,	DFNB31:uc004bix.3:exon6:c.C1335A:p.N445K,DFNB31:uc004bja.4:exon10:c.C2385A:p.N795K,DFNB31:uc004biz.4:exon10:c.C2388A:p.N796K,DFNB31:uc004biy.4:exon10:c.C1239A:p.N413K,	UNKNOWN	Het;G>T	1433;80|63	Ref		Hom;G>T	3142;2|115
N	N	-	9	117186712	117186712	C	T	snp	nonsynonymous SNV	G265A	A89T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	DFNB31	Whrn																	rs4978584	0.228235	0.1800	0.2530	0.23	3	13	exonic	exonic	exonic	DFNB31	DFNB31	ENSG00000095397	nonsynonymous SNV	nonsynonymous SNV	unknown	DFNB31:NM_015404:exon6:c.G1318A:p.A440T,DFNB31:NM_001083885:exon6:c.G169A:p.A57T,DFNB31:NM_001173425:exon6:c.G1318A:p.A440T,	DFNB31:uc004bix.3:exon2:c.G265A:p.A89T,DFNB31:uc004bja.4:exon6:c.G1318A:p.A440T,DFNB31:uc004biz.4:exon6:c.G1318A:p.A440T,DFNB31:uc004biy.4:exon6:c.G169A:p.A57T,	UNKNOWN	Het;C>T	997;48|46	Ref		Hom;C>T	2286;0|86
N	N	-	9	123291036	123291036	C	G	snp	nonsynonymous SNV	G865C	E289Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	CDK5RAP2	Cdk5rap2	ENSG00000136861	CDK5 regulatory subunit associated protein 2	chr9:123151147-123342448	This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]	Micrencephaly |Microcephaly; Alcoholism	Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death.  Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity.	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000226;microtubule cytoskeleton organization;IDA|GO:0001578;microtubule bundle formation;IDA|GO:0007059;chromosome segregation;IMP|GO:0007098;centrosome cycle;IMP|GO:0007099;centriole replication;IMP|GO:0007420;brain development;IEA|GO:0022008;neurogenesis;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0045664;regulation of neuron differentiation;NAS|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046600;negative regulation of centriole replication;IEA|GO:0090231;regulation of spindle checkpoint;IDA|GO:0097711;ciliary basal body docking;TAS	GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0035371;microtubule plus-end;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097431;mitotic spindle pole;IEA	GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0015631;tubulin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP2	https://www.uniprot.org/uniprot/Q96SN8	https://hpo.jax.org/app/browse/search?q=CDK5RAP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608201	http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP2&submit=Quick%0D%7419ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP2	rs4836822	0.801118	0.8484	0.8772	0.62	8	13	exonic	exonic	exonic	CDK5RAP2	CDK5RAP2	ENSG00000136861	nonsynonymous SNV	nonsynonymous SNV	unknown	CDK5RAP2:NM_018249:exon9:c.G865C:p.E289Q,CDK5RAP2:NM_001011649:exon9:c.G865C:p.E289Q,CDK5RAP2:NM_001272039:exon9:c.G865C:p.E289Q,	CDK5RAP2:uc004bkf.4:exon9:c.G865C:p.E289Q,CDK5RAP2:uc004bkg.4:exon9:c.G865C:p.E289Q,CDK5RAP2:uc004bki.3:exon3:c.G262C:p.E88Q,CDK5RAP2:uc004bkh.2:exon9:c.G865C:p.E289Q,	UNKNOWN	Het;C>G	857;51|39	Ref		Hom;C>G	3698;0|138
N	N	-	9	123476542	123476548	ACGGCGG	A	indel	nonframeshift substitution	89_95T	 	 	 	MEGF9	Megf9	ENSG00000106780	multiple EGF like domains 9	chr9:123363091-123476748			 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND|GO:0005604;basement membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/MEGF9	https://www.uniprot.org/uniprot/Q9H1U4		https://www.ncbi.nlm.nih.gov/omim/?term=604268	http://www.informatics.jax.org/searchtool/Search.do?query=MEGF9&submit=Quick%0D%3549ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF9	rs369989873	0.66873	0.7361	0.7795	1	0	0	exonic	exonic	exonic	MEGF9	MEGF9	ENSG00000106780	nonframeshift substitution	nonframeshift substitution	unknown	MEGF9:NM_001080497:exon1:c.89_95T,	MEGF9:uc022bms.1:exon1:c.89_95T,MEGF9:uc004bkj.2:exon1:c.65_71T,MEGF9:uc004bkk.4:exon1:c.65_71T,	UNKNOWN	Het;-CGGCGG	254;1|7	Ref		Hom;-CGGCGG	143;0|4
N	N	-	9	125289521	125289521	G	A	snp	nonsynonymous SNV	C52T	P18S	hydrophobic,neutral	polar,hydrophilic,neutral	OR1N1	Olfr351	ENSG00000171505	olfactory receptor family 1 subfamily N member 1	chr9:125288637-125289572	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA	GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OR1N1				http://www.informatics.jax.org/searchtool/Search.do?query=OR1N1&submit=Quick%0D%12951ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1N1	rs10818708	0.708466	0.5680	0.5655	0.08	1	13	exonic	exonic	exonic	OR1N1	OR1N1	ENSG00000171505	nonsynonymous SNV	nonsynonymous SNV	unknown	OR1N1:NM_012363:exon1:c.C52T:p.P18S,	OR1N1:uc004bmn.1:exon1:c.C52T:p.P18S,	UNKNOWN	Het;G>A	815;57|35	Ref		Hom;G>A	2245;0|82
N	N	-	9	12775861	12775861	T	TGGCGGCGGC	indel	nonframeshift substitution	147_147delinsTGGCGGCGGC	 	 	 	LURAP1L	Lurap1l	ENSG00000153714	leucine rich adaptor protein 1 like	chr9:12775020-12822130		Coronary Artery Disease	 					http://www.genecards.org/index.php?path=/Search/keyword/LURAP1L	https://www.uniprot.org/uniprot/Q8IV03		https://www.ncbi.nlm.nih.gov/omim/?term=616130	http://www.informatics.jax.org/searchtool/Search.do?query=LURAP1L&submit=Quick%0D%9679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LURAP1L	rs139315731	0	0	0.7280	1	0	0	exonic	exonic	exonic	LURAP1L	LURAP1L	ENSG00000153714	nonframeshift substitution	nonframeshift substitution	unknown	LURAP1L:NM_203403:exon1:c.147_147delinsTGGCGGCGGC,	LURAP1L:uc003zkw.3:exon1:c.147_147delinsTGGCGGCGGC,	UNKNOWN	Het;+GGCGGCGGC	2844;73|77	Het;+GGCGGCGGC	1692;59|45	Hom;+GGCGGCGGC	4210;0|99
N	N	-	9	12775889	12775889	A	G	snp	nonsynonymous SNV	A175G	S59G	polar,hydrophilic,neutral	aliphatic,neutral	LURAP1L	Lurap1l	ENSG00000153714	leucine rich adaptor protein 1 like	chr9:12775020-12822130		Coronary Artery Disease	 					http://www.genecards.org/index.php?path=/Search/keyword/LURAP1L	https://www.uniprot.org/uniprot/Q8IV03		https://www.ncbi.nlm.nih.gov/omim/?term=616130	http://www.informatics.jax.org/searchtool/Search.do?query=LURAP1L&submit=Quick%0D%9679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LURAP1L	rs3750501	0.68131	0	0.7520	0.08	1	13	exonic	exonic	exonic	LURAP1L	LURAP1L	ENSG00000153714	nonsynonymous SNV	nonsynonymous SNV	unknown	LURAP1L:NM_203403:exon1:c.A175G:p.S59G,	LURAP1L:uc003zkw.3:exon1:c.A175G:p.S59G,	UNKNOWN	Het;A>G	1679;96|80	Het;A>G	1321;73|66	Hom;A>G	3715;1|137
N	N	-	9	130191186	130191186	C	T	snp	nonsynonymous SNV	C20T	T7I	polar,hydrophilic,neutral	aliphatic,hydrophobic,neutral	ZNF79	 	ENSG00000196152	zinc finger protein 79	chr9:130186661-130207651		hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF79			https://www.ncbi.nlm.nih.gov/omim/?term=194552	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF79&submit=Quick%0D%16271ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF79	rs13292096	0.557508	0.6061	0.5879	0.08	1	12	exonic	exonic	exonic	ZNF79	ZNF79	ENSG00000196152	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF79:NM_007135:exon2:c.C92T:p.T31I,ZNF79:NM_001286696:exon2:c.C20T:p.T7I,ZNF79:NM_001286697:exon3:c.C20T:p.T7I,	ZNF79:uc011mag.2:exon2:c.C20T:p.T7I,ZNF79:uc011maf.2:exon3:c.C20T:p.T7I,ZNF79:uc004bqw.4:exon2:c.C92T:p.T31I,	UNKNOWN	Het;C>T	636;42|32	Het;C>T	634;47|33	Hom;C>T	1872;2|76
N	N	-	9	130197414	130197414	A	G	snp	nonsynonymous SNV	A79G	R27G	polar,hydrophilic,charged(+)	aliphatic,neutral	ZNF79	 	ENSG00000196152	zinc finger protein 79	chr9:130186661-130207651		hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF79			https://www.ncbi.nlm.nih.gov/omim/?term=194552	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF79&submit=Quick%0D%16271ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF79	rs4504745	0.560903	0.6086	0.5882	0.08	1	12	exonic	exonic	exonic	ZNF79	ZNF79	ENSG00000196152	nonsynonymous SNV	nonsynonymous SNV	unknown	ZNF79:NM_007135:exon3:c.A151G:p.R51G,ZNF79:NM_001286696:exon3:c.A79G:p.R27G,ZNF79:NM_001286697:exon4:c.A79G:p.R27G,	ZNF79:uc011mag.2:exon3:c.A79G:p.R27G,ZNF79:uc011maf.2:exon4:c.A79G:p.R27G,ZNF79:uc004bqw.4:exon3:c.A151G:p.R51G,	UNKNOWN	Het;A>G	1870;67|89	Het;A>G	1024;47|48	Hom;A>G	3051;0|112
N	N	-	9	130242166	130242166	A	G	snp	nonsynonymous SNV	A952G	N318D	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	LRSAM1	Lrsam1	ENSG00000148356	leucine rich repeat and sterile alpha motif containing 1	chr9:130213765-130265780	This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]	CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2P	Mutant mice either heterozygous or homozygous for a gene trapped allele exhibit mild neuromuscular junction and axonal defects in the absence of a neuronal challenge, but show increased sensitivity to acrylamide-induced motor axon degeneration relative to control mice.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;IDA|GO:0006810;transport;IEA|GO:0006914;autophagy;IEA|GO:0007165;signal transduction;IBA|GO:0015031;protein transport;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030163;protein catabolic process;IMP|GO:0045806;negative regulation of endocytosis;IMP|GO:0046755;viral budding;IMP|GO:0051865;protein autoubiquitination;IDA|GO:0070086;ubiquitin-dependent endocytosis;IDA|GO:1904417;positive regulation of xenophagy;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IDA	GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LRSAM1	https://www.uniprot.org/uniprot/Q6UWE0	https://hpo.jax.org/app/browse/search?q=LRSAM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610933	http://www.informatics.jax.org/searchtool/Search.do?query=LRSAM1&submit=Quick%0D%9108ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRSAM1	rs1539567	0.727236	0.7418	0.7776	0.15	2	13	exonic	exonic	exonic	LRSAM1	LRSAM1	ENSG00000148356	nonsynonymous SNV	nonsynonymous SNV	unknown	LRSAM1:NM_138361:exon13:c.A952G:p.N318D,LRSAM1:NM_001005374:exon13:c.A952G:p.N318D,LRSAM1:NM_001190723:exon14:c.A952G:p.N318D,LRSAM1:NM_001005373:exon14:c.A952G:p.N318D,	LRSAM1:uc010mxk.2:exon14:c.A952G:p.N318D,LRSAM1:uc004brb.2:exon14:c.A952G:p.N318D,LRSAM1:uc004brd.2:exon13:c.A952G:p.N318D,LRSAM1:uc004brc.3:exon13:c.A952G:p.N318D,	UNKNOWN	Het;A>G	777;52|40	Het;A>G	785;35|35	Hom;A>G	1674;0|63
N	N	-	9	130536717	130536717	G	A	snp	nonsynonymous SNV	C67T	L23F	aliphatic,hydrophobic,neutral	aromatic,hydrophobic,neutral	SH2D3C	Sh2d3c	ENSG00000095370	SH2 domain containing 3C	chr9:130500596-130541020	This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]	Cleft Lip|Cleft Palate	Mice homozygous for a knock-out allele exhibit neonatal lethality with absence of gastric milk. Surviving mice exhibit abnormal olfactory bulb innervation, fewer gonadotrophin positive cells in the hypothalamus, and decreased testes size.		GO:0007254;JNK cascade;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA	GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SH2D3C	https://www.uniprot.org/uniprot/Q8N5H7		https://www.ncbi.nlm.nih.gov/omim/?term=604722	http://www.informatics.jax.org/searchtool/Search.do?query=SH2D3C&submit=Quick%0D%2243ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH2D3C	rs10760500	0.536342	0.4628	0.5627	0.31	4	13	exonic	exonic	exonic	SH2D3C	SH2D3C	ENSG00000095370	nonsynonymous SNV	nonsynonymous SNV	unknown	SH2D3C:NM_170600:exon2:c.C67T:p.L23F,	SH2D3C:uc004bsc.3:exon2:c.C67T:p.L23F,	UNKNOWN	Het;G>A	1758;76|76	Ref		Hom;G>A	3645;0|134
N	N	-	9	131019738	131019738	T	C	snp	nonsynonymous SNV	A2704G	R902G	polar,hydrophilic,charged(+)	aliphatic,neutral	GOLGA2	Golga2	ENSG00000167110	golgin A2	chr9:131018108-131038274	The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010]		Mice homozygous for a null allele display lethality before postnatal day 35, impaired postnatal growth, loss of Purkinje cells, and Golgi apparatus defects.	Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models	GO:0006486;protein glycosylation;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007020;microtubule nucleation;IDA|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008356;asymmetric cell division;ISS|GO:0010507;negative regulation of autophagy;IMP|GO:0032091;negative regulation of protein binding;IDA|GO:0048208;COPII vesicle coating;TAS|GO:0051225;spindle assembly;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051301;cell division;IEA|GO:0060050;positive regulation of protein glycosylation;IMP|GO:0090161;Golgi ribbon formation;IMP|GO:0090166;Golgi disassembly;ISS|GO:0090306;spindle assembly involved in meiosis;ISS|GO:0090307;mitotic spindle assembly;IDA|GO:1904668;positive regulation of ubiquitin protein ligase activity;TAS	GO:0000137;Golgi cis cisterna;IDA|GO:0000139;Golgi membrane;TAS|GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;TAS|GO:0005801;cis-Golgi network;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030134;ER to Golgi transport vesicle;IMP|GO:0032580;Golgi cisterna membrane;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0072686;mitotic spindle;IDA	GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0019905;syntaxin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0061676;importin-alpha family protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/GOLGA2			https://www.ncbi.nlm.nih.gov/omim/?term=602580	http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA2&submit=Quick%0D%11951ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA2	rs2240961	0.163738	0.1144	0.1058	0.69	9	13	exonic	exonic	exonic	GOLGA2	GOLGA2	ENSG00000167110	nonsynonymous SNV	nonsynonymous SNV	unknown	GOLGA2:NM_004486:exon25:c.A2704G:p.R902G,	GOLGA2:uc011maw.2:exon25:c.A2704G:p.R902G,GOLGA2:uc010mxw.3:exon7:c.A673G:p.R225G,	UNKNOWN	Het;T>C	1539;53|61	Ref		Hom;T>C	2410;0|84
N	N	-	9	131020795	131020798	GCCT	G	indel	nonframeshift substitution	2144_2147C	 	 	 	GOLGA2	Golga2	ENSG00000167110	golgin A2	chr9:131018108-131038274	The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010]		Mice homozygous for a null allele display lethality before postnatal day 35, impaired postnatal growth, loss of Purkinje cells, and Golgi apparatus defects.	Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models	GO:0006486;protein glycosylation;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007020;microtubule nucleation;IDA|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008356;asymmetric cell division;ISS|GO:0010507;negative regulation of autophagy;IMP|GO:0032091;negative regulation of protein binding;IDA|GO:0048208;COPII vesicle coating;TAS|GO:0051225;spindle assembly;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051301;cell division;IEA|GO:0060050;positive regulation of protein glycosylation;IMP|GO:0090161;Golgi ribbon formation;IMP|GO:0090166;Golgi disassembly;ISS|GO:0090306;spindle assembly involved in meiosis;ISS|GO:0090307;mitotic spindle assembly;IDA|GO:1904668;positive regulation of ubiquitin protein ligase activity;TAS	GO:0000137;Golgi cis cisterna;IDA|GO:0000139;Golgi membrane;TAS|GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;TAS|GO:0005801;cis-Golgi network;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030134;ER to Golgi transport vesicle;IMP|GO:0032580;Golgi cisterna membrane;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0072686;mitotic spindle;IDA	GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0019905;syntaxin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0061676;importin-alpha family protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/GOLGA2			https://www.ncbi.nlm.nih.gov/omim/?term=602580	http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA2&submit=Quick%0D%11951ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA2	rs112603354	0.26278	0.2311	0.1551	1	0	0	exonic	exonic	exonic	GOLGA2	GOLGA2	ENSG00000167110	nonframeshift substitution	nonframeshift substitution	unknown	GOLGA2:NM_004486:exon21:c.2144_2147C,	GOLGA2:uc011maw.2:exon21:c.2144_2147C,GOLGA2:uc004buh.3:exon5:c.563_566C,	UNKNOWN	Het;-CCT	842;15|22	Ref		Hom;-CCT	1044;0|24
N	N	-	9	132591425	132591425	C	T	snp	stopgain	G675A	W225X	aromatic,hydrophobic,neutral	 	C9orf78	BC005624	ENSG00000136819	chromosome 9 open reading frame 78	chr9:132589569-132598142			 			GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C9orf78	https://www.uniprot.org/uniprot/Q9NZ63			http://www.informatics.jax.org/searchtool/Search.do?query=C9orf78&submit=Quick%0D%7406ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf78	rs7047271	0.226238	0	0.2998	1	0	0	intronic	exonic	intronic	C9orf78	C9orf78	ENSG00000136819	Na	stopgain	Na	Na	C9orf78:uc004byq.1:exon5:c.G675A:p.W225X,	Na	Het;C>T	99;10|5	Het;C>T	66;5|3	Hom;C>T	126;0|4
N	N	-	9	133284310	133284310	G	A	snp	nonsynonymous SNV	G2465A	R822H	polar,hydrophilic,charged(+)	aromatic,polar,hydrophilic,charged(+)	DKFZp434P0216																		rs10793975	0.5627	0	0.6790	0.00	0	3	exonic	exonic	intergenic	HMCN2	DKFZp434P0216	ENSG00000215428(dist=1671),ENSG00000148357(dist=1638)	unknown	nonsynonymous SNV	Na	UNKNOWN	DKFZp434P0216:uc004bzj.3:exon25:c.G2465A:p.R822H,	Na	Het;G>A	1078;44|49	Het;G>A	839;46|40	Hom;G>A	2021;0|77
N	N	-	9	134350323	134350323	C	G	snp	nonsynonymous SNV	C881G	T294S	polar,hydrophilic,neutral	polar,hydrophilic,neutral	PRRC2B	Prrc2b	ENSG00000130723	proline rich coiled-coil 2B	chr9:134269480-134375584			 		GO:0030154;cell differentiation;IBA		GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRRC2B	https://www.uniprot.org/uniprot/Q5JSZ5			http://www.informatics.jax.org/searchtool/Search.do?query=PRRC2B&submit=Quick%0D%6424ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRC2B	rs10736851	0.769569	0.7403	0.7965	0.33	4	12	exonic	exonic	exonic	PRRC2B	PRRC2B	ENSG00000130723	nonsynonymous SNV	nonsynonymous SNV	unknown	PRRC2B:NM_013318:exon15:c.C2807G:p.T936S,	PRRC2B:uc004cao.4:exon3:c.C881G:p.T294S,PRRC2B:uc010mzj.1:exon8:c.C1556G:p.T519S,PRRC2B:uc004can.4:exon15:c.C2807G:p.T936S,	UNKNOWN	Het;C>G	982;74|44	Het;C>G	1240;49|52	Hom;C>G	3466;0|122
N	N	-	9	134350458	134350458	C	T	snp	nonsynonymous SNV	C1016T	P339L	hydrophobic,neutral	aliphatic,hydrophobic,neutral	PRRC2B	Prrc2b	ENSG00000130723	proline rich coiled-coil 2B	chr9:134269480-134375584			 		GO:0030154;cell differentiation;IBA		GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PRRC2B	https://www.uniprot.org/uniprot/Q5JSZ5			http://www.informatics.jax.org/searchtool/Search.do?query=PRRC2B&submit=Quick%0D%6424ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRC2B	rs10751478	0.76877	0.7400	0.7910	0.08	1	12	exonic	exonic	exonic	PRRC2B	PRRC2B	ENSG00000130723	nonsynonymous SNV	nonsynonymous SNV	unknown	PRRC2B:NM_013318:exon15:c.C2942T:p.P981L,	PRRC2B:uc004cao.4:exon3:c.C1016T:p.P339L,PRRC2B:uc010mzj.1:exon8:c.C1691T:p.P564L,PRRC2B:uc004can.4:exon15:c.C2942T:p.P981L,	UNKNOWN	Het;C>T	1312;79|56	Het;C>T	1730;37|69	Hom;C>T	3201;0|113
N	N	-	9	134406071	134406071	C	G	snp	nonsynonymous SNV	G85C	E29Q	polar,hydrophilic,charged(-)	polar,hydrophilic,neutral	UCK1	Uck1	ENSG00000130717	uridine-cytidine kinase 1	chr9:134399188-134406655	This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012]		 	Pyrimidine salvage	GO:0006206;pyrimidine nucleobase metabolic process;IBA|GO:0008152;metabolic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0016310;phosphorylation;IEA|GO:0043097;pyrimidine nucleoside salvage;TAS|GO:0044206;UMP salvage;IEA|GO:0044211;CTP salvage;IEA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004849;uridine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019206;nucleoside kinase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/UCK1	https://www.uniprot.org/uniprot/Q9HA47		https://www.ncbi.nlm.nih.gov/omim/?term=609328	http://www.informatics.jax.org/searchtool/Search.do?query=UCK1&submit=Quick%0D%6422ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UCK1	rs7867616	0.86222	0.8115	0.8662	0.25	2	8	exonic	exonic	exonic	UCK1	UCK1	ENSG00000130717	nonsynonymous SNV	nonsynonymous SNV	unknown	UCK1:NM_001261451:exon2:c.G85C:p.E29Q,	UCK1:uc031tfj.1:exon2:c.G85C:p.E29Q,	UNKNOWN	Het;C>G	1167;36|48	Het;C>G	899;32|38	Hom;C>G	2499;0|89
N	N	-	9	136268084	136268084	A	G	snp	nonsynonymous SNV	A1417G	K473E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	C9orf96	 																	rs3124747	0.470048	0.5727	0.6320	1	0	0	exonic	exonic	exonic	STKLD1	C9orf96	ENSG00000198870	nonsynonymous SNV	nonsynonymous SNV	unknown	STKLD1:NM_153710:exon14:c.A1417G:p.K473E,	C9orf96:uc004cdk.3:exon14:c.A1417G:p.K473E,	UNKNOWN	Het;A>G	1210;46|50	Het;A>G	1433;45|62	Hom;A>G	3153;0|113
N	N	-	9	136301982	136301982	C	G	snp	nonsynonymous SNV	C1249G	Q417E	polar,hydrophilic,neutral	polar,hydrophilic,charged(-)	ADAMTS13	Adamts13	ENSG00000281244	ADAM metallopeptidase with thrombospondin type 1 motif 13	chr9:136279478-136324508	This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]	Alcoholism; stroke, ischemic; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Peripheral Vascular Diseases|Stroke|Thrombosis; null; E-Selectin; plasma levels of liver enzymes; Congenital thrombotic thrombocytopenic purpura; arterial thrombosis; Pregnancy Complications, Hematologic|Purpura, Thrombotic Thrombocytopenic; Alkaline Phosphatase	Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile.	O-glycosylation of TSR domain-containing proteins	GO:0006508;proteolysis;IDA|GO:0007160;cell-matrix adhesion;NAS|GO:0007229;integrin-mediated signaling pathway;NAS|GO:0007596;blood coagulation;IEA|GO:0007599;hemostasis;IEA|GO:0009100;glycoprotein metabolic process;NAS|GO:0016485;protein processing;TAS|GO:0030168;platelet activation;NAS|GO:0036066;protein O-linked fucosylation;TAS|GO:0043171;peptide catabolic process;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009986;cell surface;NAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS13		https://hpo.jax.org/app/browse/search?q=ADAMTS13&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604134	http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS13&submit=Quick%0D%22285ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS13	rs2301612	0.271565	0.3013	0.4530	0.25	3	12	exonic	exonic	exonic	ADAMTS13	ADAMTS13	ENSG00000160323	nonsynonymous SNV	nonsynonymous SNV	unknown	ADAMTS13:NM_139025:exon12:c.C1342G:p.Q448E,ADAMTS13:NM_139026:exon12:c.C1249G:p.Q417E,ADAMTS13:NM_139027:exon12:c.C1342G:p.Q448E,	ADAMTS13:uc004cdu.1:exon12:c.C1249G:p.Q417E,ADAMTS13:uc004cdv.4:exon12:c.C1342G:p.Q448E,ADAMTS13:uc004cdt.1:exon12:c.C1342G:p.Q448E,ADAMTS13:uc004cdz.4:exon5:c.C352G:p.Q118E,ADAMTS13:uc004cdx.4:exon12:c.C1249G:p.Q417E,ADAMTS13:uc004cdw.4:exon12:c.C1342G:p.Q448E,	UNKNOWN	Het;C>G	475;11|20	Het;C>G	149;24|9	Hom;C>G	752;0|27
N	N	-	9	138376649	138376649	T	C	snp	nonsynonymous SNV	T293C	V98A	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PPP1R26	Ppp1r26	ENSG00000196422	protein phosphatase 1 regulatory subunit 26	chr9:138370925-138380739			 		GO:0010923;negative regulation of phosphatase activity;IDA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA	GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R26			https://www.ncbi.nlm.nih.gov/omim/?term=614056	http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R26&submit=Quick%0D%16359ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R26	rs3748192	0.418331	0.2223	0.3237	0.15	2	13	exonic	exonic	exonic	PPP1R26	PPP1R26	ENSG00000196422	nonsynonymous SNV	nonsynonymous SNV	unknown	PPP1R26:NM_014811:exon4:c.T293C:p.V98A,	PPP1R26:uc004cfr.1:exon4:c.T293C:p.V98A,PPP1R26:uc022bpi.1:exon1:c.T293C:p.V98A,	UNKNOWN	Het;T>C	1449;68|67	Het;T>C	1642;84|76	Hom;T>C	4448;1|161
N	N	-	9	138376972	138376972	A	G	snp	nonsynonymous SNV	A616G	K206E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	PPP1R26	Ppp1r26	ENSG00000196422	protein phosphatase 1 regulatory subunit 26	chr9:138370925-138380739			 		GO:0010923;negative regulation of phosphatase activity;IDA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA	GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R26			https://www.ncbi.nlm.nih.gov/omim/?term=614056	http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R26&submit=Quick%0D%16359ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R26	rs3928777	0.411142	0.2234	0.3209	0.08	1	13	exonic	exonic	exonic	PPP1R26	PPP1R26	ENSG00000196422	nonsynonymous SNV	nonsynonymous SNV	unknown	PPP1R26:NM_014811:exon4:c.A616G:p.K206E,	PPP1R26:uc004cfr.1:exon4:c.A616G:p.K206E,PPP1R26:uc022bpi.1:exon1:c.A616G:p.K206E,	UNKNOWN	Het;A>G	1741;81|78	Het;A>G	1896;96|86	Hom;A>G	4247;0|158
N	N	-	9	138377657	138377657	T	C	snp	nonsynonymous SNV	T1301C	M434T	hydrophobic,neutral	polar,hydrophilic,neutral	PPP1R26	Ppp1r26	ENSG00000196422	protein phosphatase 1 regulatory subunit 26	chr9:138370925-138380739			 		GO:0010923;negative regulation of phosphatase activity;IDA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA	GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R26			https://www.ncbi.nlm.nih.gov/omim/?term=614056	http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R26&submit=Quick%0D%16359ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R26	rs1808998	0.464058	0.2666	0.3380	0.08	1	13	exonic	exonic	exonic	PPP1R26	PPP1R26	ENSG00000196422	nonsynonymous SNV	nonsynonymous SNV	unknown	PPP1R26:NM_014811:exon4:c.T1301C:p.M434T,	PPP1R26:uc004cfr.1:exon4:c.T1301C:p.M434T,PPP1R26:uc022bpi.1:exon1:c.T1301C:p.M434T,	UNKNOWN	Het;T>C	1648;66|69	Het;T>C	1773;69|73	Hom;T>C	4197;0|146
N	N	-	9	138440525	138440525	C	G	snp	nonsynonymous SNV	C425G	P142R	hydrophobic,neutral	polar,hydrophilic,charged(+)	OBP2A	Obp2b	ENSG00000122136	odorant binding protein 2A	chr9:138437985-138441815	This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]		 		GO:0006810;transport;IEA|GO:0007606;sensory perception of chemical stimulus;TAS|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA	GO:0005549;odorant binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/OBP2A	https://www.uniprot.org/uniprot/Q9NY56		https://www.ncbi.nlm.nih.gov/omim/?term=164320	http://www.informatics.jax.org/searchtool/Search.do?query=OBP2A&submit=Quick%0D%5386ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OBP2A	rs2590500	0.486621	0.3081	0.4608	0.27	3	11	exonic	exonic	exonic	OBP2A	OBP2A	ENSG00000122136	nonsynonymous SNV	nonsynonymous SNV	unknown	OBP2A:NM_001293189:exon5:c.C425G:p.P142R,	OBP2A:uc004cgc.3:exon5:c.C425G:p.P142R,	UNKNOWN	Het;C>G	2169;36|56	Het;C>G	2131;50|55	Hom;C>G	4779;0|105
N	N	-	9	138440527	138440527	T	C	snp	nonsynonymous SNV	T293C	L98S	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	OBP2A	Obp2b	ENSG00000122136	odorant binding protein 2A	chr9:138437985-138441815	This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]		 		GO:0006810;transport;IEA|GO:0007606;sensory perception of chemical stimulus;TAS|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA	GO:0005549;odorant binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/OBP2A	https://www.uniprot.org/uniprot/Q9NY56		https://www.ncbi.nlm.nih.gov/omim/?term=164320	http://www.informatics.jax.org/searchtool/Search.do?query=OBP2A&submit=Quick%0D%5386ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OBP2A	rs2590501	0.486621	0.3056	0.4608	0.09	1	11	exonic	exonic	exonic	OBP2A	OBP2A	ENSG00000122136	nonsynonymous SNV	nonsynonymous SNV	unknown	OBP2A:NM_001293189:exon5:c.T427C:p.W143R,OBP2A:NM_001293193:exon4:c.T293C:p.L98S,	OBP2A:uc010nav.3:exon4:c.T293C:p.L98S,OBP2A:uc004cgc.3:exon5:c.T427C:p.W143R,	UNKNOWN	Het;T>C	2169;35|55	Het;T>C	2131;49|55	Hom;T>C	4779;0|109
N	N	-	9	139258186	139258186	C	CGCCCTGCCCCG	indel	UTR5;UTR3	-20G>CGGGGCAGGGCG	 	 	 	DNLZ	Dnlz	ENSG00000213221	DNL-type zinc finger	chr9:139253932-139258241			 		GO:0006457;protein folding;IBA|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0050821;protein stabilization;IBA	GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051087;chaperone binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/DNLZ				http://www.informatics.jax.org/searchtool/Search.do?query=DNLZ&submit=Quick%0D%18104ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNLZ	rs201269237	0	0.1706	0.0613	1	0	0	UTR5	UTR5;UTR3	UTR5	DNLZ(NM_001080849:c.-20G>CGGGGCAGGGCG)	DNLZ(uc004chf.2:c.-20G>CGGGGCAGGGCG);CARD9(uc004chg.3:c.*568G>CGGGGCAGGGCG)	ENSG00000213221(ENST00000371738:c.-20G>CGGGGCAGGGCG)	Na	Na	Na	Na	Na	Na	Het;+GCCCTGCCCCG	272;11|8	Het;+GCCCTGCCCCG	301;3|9	Hom;+GCCCTGCCCCG	995;0|23
N	N	-	9	139313587	139313587	C	T	snp	nonsynonymous SNV	C542T	A181V	aliphatic,hydrophobic,neutral	aliphatic,hydrophobic,neutral	PMPCA	Pmpca	ENSG00000165688	peptidase, mitochondrial processing alpha subunit	chr9:139305110-139318213	The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Processing of SMDT1	GO:0006508;proteolysis;IEA|GO:0006627;protein processing involved in protein targeting to mitochondrion;IMP|GO:0006851;mitochondrial calcium ion transport;TAS	GO:0005615;extracellular space;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005759;mitochondrial matrix;IEA|GO:0016020;membrane;IEA	GO:0003824;catalytic activity;IEA|GO:0004222;metalloendopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PMPCA		https://hpo.jax.org/app/browse/search?q=PMPCA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613036	http://www.informatics.jax.org/searchtool/Search.do?query=PMPCA&submit=Quick%0D%11602ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PMPCA	rs117893486	0.0121805	0.0255	0.0234	1	0	0	intronic	exonic	intronic	PMPCA	PMPCA	ENSG00000165688	Na	nonsynonymous SNV	Na	Na	PMPCA:uc004chm.1:exon5:c.C542T:p.A181V,	Na	Het;C>T	1045;56|50	Het;C>T	927;50|44	Hom;C>T	2443;1|95
N	N	-	9	139693596	139693596	T	C	snp	nonsynonymous SNV	T113C	M38T	hydrophobic,neutral	polar,hydrophilic,neutral	KIAA1984																		rs945386	0.273363	0.2443	0.2374	0.08	1	13	exonic	exonic	exonic	CCDC183	KIAA1984	ENSG00000213213,ENSG00000272896	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC183:NM_001039374:exon2:c.T113C:p.M38T,	KIAA1984:uc004cjf.3:exon2:c.T113C:p.M38T,	UNKNOWN	Het;T>C	1411;61|63	Het;T>C	1246;53|59	Hom;T>C	3050;1|118
N	N	-	9	139694521	139694521	T	G	snp	nonsynonymous SNV	T338G	L113R	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	KIAA1984																		rs4546744	0.264976	0.2209	0.3144	0.50	6	12	exonic	exonic	exonic	CCDC183	KIAA1984	ENSG00000213213,ENSG00000272896	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC183:NM_001039374:exon4:c.T338G:p.L113R,	KIAA1984:uc004cjf.3:exon4:c.T338G:p.L113R,	UNKNOWN	Het;T>G	1327;51|60	Het;T>G	953;47|47	Hom;T>G	2649;3|104
N	N	-	9	139694569	139694569	A	C	snp	nonsynonymous SNV	A386C	D129A	polar,hydrophilic,charged(-)	aliphatic,hydrophobic,neutral	KIAA1984																		rs7859194	0.27476	0.2090	0.2694	0.08	1	13	exonic	exonic	exonic	CCDC183	KIAA1984	ENSG00000213213,ENSG00000272896	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC183:NM_001039374:exon4:c.A386C:p.D129A,	KIAA1984:uc004cjf.3:exon4:c.A386C:p.D129A,	UNKNOWN	Het;A>C	1469;35|60	Het;A>C	870;39|40	Hom;A>C	1894;3|71
N	N	-	9	139925983	139925983	G	A	snp	nonsynonymous SNV	C208T	R70C	polar,hydrophilic,charged(+)	polar,hydrophobic,neutral	FUT7	Fut7	ENSG00000180549	fucosyltransferase 7	chr9:139924626-139927462	The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq, Jul 2008]	hypertension; bladder cancer; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage	Mice homozygous for disruptions in this gene are superficially normal.  However, abnormalities are found in immune cell function and lymph node morphology.  Redeuced tumor metastasis is also seen.		GO:0002361;CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation;IEA|GO:0002522;leukocyte migration involved in immune response;IEA|GO:0006486;protein glycosylation;IEA|GO:0036065;fucosylation;IEA|GO:0042355;L-fucose catabolic process;NAS	GO:0000139;Golgi membrane;IBA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;TAS|GO:0032580;Golgi cisterna membrane;IEA	GO:0008417;fucosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0046920;alpha-(1->3)-fucosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FUT7			https://www.ncbi.nlm.nih.gov/omim/?term=602030	http://www.informatics.jax.org/searchtool/Search.do?query=FUT7&submit=Quick%0D%14497ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FUT7	rs117125309	0.0133786	0.0072	0.0162	0.50	6	12	exonic	exonic	exonic	FUT7	FUT7	ENSG00000180549	nonsynonymous SNV	nonsynonymous SNV	unknown	FUT7:NM_004479:exon2:c.C208T:p.R70C,	FUT7:uc004ckq.2:exon2:c.C208T:p.R70C,	UNKNOWN	Het;G>A	989;75|48	Het;G>A	1065;51|46	Hom;G>A	2096;1|77
N	N	-	9	139929435	139929435	A	G	snp	nonsynonymous SNV	A502G	K168E	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(-)	C9orf139																		rs12337910	0.0884585	0.1174	0.0804	1	0	0	exonic	exonic	exonic	C9orf139	C9orf139	ENSG00000180539	nonsynonymous SNV	nonsynonymous SNV	unknown	C9orf139:NM_207511:exon3:c.A502G:p.K168E,	C9orf139:uc004ckp.1:exon3:c.A502G:p.K168E,	UNKNOWN	Het;A>G	2184;73|81	Het;A>G	1479;62|65	Hom;A>G	4426;0|155
N	N	-	9	140262426	140262426	C	T	snp	nonsynonymous SNV	G478A	A160T	aliphatic,hydrophobic,neutral	polar,hydrophilic,neutral	EXD3	 	ENSG00000187609	exonuclease 3'-5' domain containing 3	chr9:140201348-140317714			 		GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA	GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008408;3'-5' exonuclease activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EXD3				http://www.informatics.jax.org/searchtool/Search.do?query=EXD3&submit=Quick%0D%15855ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXD3	rs11533158	0.70607	0.6491	0.6977	0.08	1	13	exonic	exonic	exonic	EXD3	EXD3	ENSG00000187609	nonsynonymous SNV	nonsynonymous SNV	unknown	EXD3:NM_001286823:exon6:c.G478A:p.A160T,EXD3:NM_017820:exon6:c.G478A:p.A160T,	EXD3:uc004cmp.2:exon6:c.G478A:p.A160T,EXD3:uc010ncg.1:exon6:c.G295A:p.A99T,EXD3:uc004cmr.3:exon9:c.G295A:p.A99T,EXD3:uc004cms.3:exon6:c.G478A:p.A160T,	UNKNOWN	Het;C>T	1635;59|79	Het;C>T	892;75|50	Hom;C>T	3286;2|130
N	N	-	9	141016262	141016262	T	G	snp	nonsynonymous SNV	T6638G	L2213R	aliphatic,hydrophobic,neutral	polar,hydrophilic,charged(+)	CACNA1B	Cacna1b	ENSG00000148408	calcium voltage-gated channel subunit alpha1 B	chr9:140772241-141019076	The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]	Schizophrenia; Tobacco Use Disorder; Body Height; schizophrenia | bipolar disorder	Mice deficient in this gene exhibit defects in nociception, memory and learning.  They also exhibit hyperactive and hyperaggressive behaviors as well as defects in the the sleep-wake cycle.  Deficits in the sympathetic nervous system results in defects in circulatory regulation.	Presynaptic depolarization and calcium channel opening	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;IEA|GO:0007626;locomotory behavior;IEA|GO:0008016;regulation of heart contraction;IEA|GO:0008217;regulation of blood pressure;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0048265;response to pain;IEA|GO:0051899;membrane depolarization;TAS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA	GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA	GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IBA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CACNA1B	https://www.uniprot.org/uniprot/Q00975	https://hpo.jax.org/app/browse/search?q=CACNA1B&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601012	http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1B&submit=Quick%0D%9117ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1B	rs2278973	0.910743	0.9270	0.9030	0.33	3	9	exonic	exonic	exonic	CACNA1B	CACNA1B	ENSG00000148408	nonsynonymous SNV	nonsynonymous SNV	unknown	CACNA1B:NM_001243812:exon46:c.T6644G:p.L2215R,	CACNA1B:uc022bqn.1:exon46:c.T6638G:p.L2213R,CACNA1B:uc031tfz.1:exon47:c.T6644G:p.L2215R,	UNKNOWN	Het;T>G	1991;83|86	Het;T>G	1879;91|81	Hom;T>G	3348;0|115
N	N	-	9	141070335	141070335	T	G	snp	nonsynonymous SNV	T575G	V192G	aliphatic,hydrophobic,neutral	aliphatic,neutral	TUBBP5																		rs7868705	0.800919	0	0.8625	1	0	0	ncRNA_exonic	exonic	ncRNA_exonic	TUBBP5	TUBBP5	ENSG00000159247	Na	nonsynonymous SNV	Na	Na	TUBBP5:uc010ncq.3:exon4:c.T575G:p.V192G,	Na	Het;T>G	4769;77|147	Het;T>G	4803;80|153	Hom;T>G	7434;0|214
N	N	-	9	14737506	14737506	T	G	snp	nonsynonymous SNV	A6428C	Q2143P	polar,hydrophilic,neutral	hydrophobic,neutral	FREM1	Frem1	ENSG00000164946	FRAS1 related extracellular matrix 1	chr9:14734664-14910993	This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]	Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height	Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis.		GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FREM1		https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608944	http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1	rs10961689	0.735024	0.7526	0.7385	0.08	1	13	exonic	exonic	exonic	FREM1	FREM1	ENSG00000164946	nonsynonymous SNV	nonsynonymous SNV	unknown	FREM1:NM_144966:exon38:c.A6428C:p.Q2143P,FREM1:NM_001177704:exon14:c.A2036C:p.Q679P,	FREM1:uc003zlm.3:exon38:c.A6428C:p.Q2143P,FREM1:uc003zll.3:exon14:c.A2036C:p.Q679P,	UNKNOWN	Het;T>G	2905;139|136	Het;T>G	1985;109|95	Hom;T>G	5644;0|202
N	N	-	9	15591372	15591372	T	A	snp	nonsynonymous SNV	T361A	S121T	polar,hydrophilic,neutral	polar,hydrophilic,neutral	CCDC171	Ccdc171	ENSG00000164989	coiled-coil domain containing 171	chr9:15552895-16061661		Echocardiography; Carotid Artery Diseases; Body Weight; Tobacco Use Disorder	Mice that either homozygous or heterozygous for an ENU-induced single point mutation exhibit decreased mature B cell number, decreased IgD level, and increased IgM level.					http://www.genecards.org/index.php?path=/Search/keyword/CCDC171				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC171&submit=Quick%0D%11445ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC171	rs4741510	0.354034	0.2983	0.4056	0.15	2	13	exonic	exonic	exonic	CCDC171	CCDC171	ENSG00000164989	nonsynonymous SNV	nonsynonymous SNV	unknown	CCDC171:NM_173550:exon5:c.T361A:p.S121T,	CCDC171:uc011lmu.2:exon4:c.T361A:p.S121T,CCDC171:uc010mih.1:exon5:c.T361A:p.S121T,CCDC171:uc003zmd.3:exon5:c.T361A:p.S121T,CCDC171:uc003zme.3:exon6:c.T82A:p.S28T,CCDC171:uc003zmc.2:exon5:c.T361A:p.S121T,	UNKNOWN	Het;T>A	287;5|11	Het;T>A	348;11|16	Hom;T>A	824;0|31
N	N	-	9	286593	286593	C	A	snp	nonsynonymous SNV	C85A	P29T	hydrophobic,neutral	polar,hydrophilic,neutral	DOCK8	Dock8	ENSG00000107099	dedicator of cytokinesis 8	chr9:214854-465259	This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]	Tobacco Use Disorder; Platelet Count; Heart Failure	Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation.	Factors involved in megakaryocyte development and platelet production	GO:0001771;immunological synapse formation;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0036336;dendritic cell migration;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061485;memory T cell proliferation;IMP|GO:0070233;negative regulation of T cell apoptotic process;IEA	GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DOCK8	https://www.uniprot.org/uniprot/Q8NF50	https://hpo.jax.org/app/browse/search?q=DOCK8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611432	http://www.informatics.jax.org/searchtool/Search.do?query=DOCK8&submit=Quick%0D%3575ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK8	rs529208	0.529752	0.4642	0.5206	0.62	8	13	exonic	exonic	exonic	DOCK8	DOCK8	ENSG00000107099	nonsynonymous SNV	nonsynonymous SNV	unknown	DOCK8:NM_203447:exon3:c.C289A:p.P97T,DOCK8:NM_001190458:exon2:c.C85A:p.P29T,DOCK8:NM_001193536:exon2:c.C85A:p.P29T,	DOCK8:uc010mgv.3:exon2:c.C85A:p.P29T,DOCK8:uc010mgt.3:exon2:c.C85A:p.P29T,DOCK8:uc011lls.1:exon3:c.C289A:p.P97T,DOCK8:uc003zgg.3:exon2:c.C85A:p.P29T,DOCK8:uc003zgf.2:exon3:c.C289A:p.P97T,DOCK8:uc022bcu.1:exon2:c.C85A:p.P29T,	UNKNOWN	Het;C>A	1518;65|70	Het;C>A	1507;62|70	Hom;C>A	3596;0|132
N	N	-	9	7046917	7046917	A	G	snp	nonsynonymous SNV	A2381G	K794R	polar,hydrophilic,charged(+)	polar,hydrophilic,charged(+)	KDM4C	Kdm4c	ENSG00000107077	lysine demethylase 4C	chr9:6720863-7175648	This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]	Myocardial Infarction; Blood Pressure; Lipoproteins; Carcinoma, Squamous Cell|Esophageal Neoplasms; Body Composition; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Heart Failure; Schizophrenia; Body Mass Index; Heart Rate; Tobacco Use Disorder; Response to radiation; autism; Triglycerides; Bone Density	Mice homozygous for a null gene trap allele cannot be produced likely due to embryonic lethality. Mice heterozygous for a null gene trap allele exhibit reduced body weight and lower incidence and multiplicity of both benign and malignant tumors in mice treated with DMBA and TPA.	Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3	GO:0001825;blastocyst formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0033169;histone H3-K9 demethylation;IDA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA|GO:2000036;regulation of stem cell population maintenance;IEA|GO:2000736;regulation of stem cell differentiation;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005721;pericentric heterochromatin;IEA	GO:0003682;chromatin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0032452;histone demethylase activity;EXP|GO:0032454;histone demethylase activity (H3-K9 specific);IDA|GO:0046872;metal ion binding;IEA|GO:0050681;androgen receptor binding;IPI|GO:0051213;dioxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KDM4C	https://www.uniprot.org/uniprot/Q9H3R0		https://www.ncbi.nlm.nih.gov/omim/?term=605469	http://www.informatics.jax.org/searchtool/Search.do?query=KDM4C&submit=Quick%0D%3574ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4C	rs1417290	0.0884585	0.0530	0.0617	0.38	5	13	exonic	exonic	exonic	KDM4C	KDM4C	ENSG00000107077	nonsynonymous SNV	nonsynonymous SNV	unknown	KDM4C:NM_001146695:exon16:c.A2315G:p.K772R,KDM4C:NM_001146694:exon16:c.A2315G:p.K772R,KDM4C:NM_015061:exon16:c.A2315G:p.K772R,KDM4C:NM_001146696:exon16:c.A2381G:p.K794R,KDM4C:NM_001304339:exon16:c.A2315G:p.K772R,KDM4C:NM_001304340:exon14:c.A1550G:p.K517R,	KDM4C:uc010mhu.2:exon16:c.A2381G:p.K794R,KDM4C:uc011lml.2:exon9:c.A1376G:p.K459R,KDM4C:uc011lmi.1:exon16:c.A2315G:p.K772R,KDM4C:uc003zkg.3:exon16:c.A2315G:p.K772R,KDM4C:uc011lmk.2:exon14:c.A1550G:p.K517R,KDM4C:uc003zkh.3:exon16:c.A2315G:p.K772R,	UNKNOWN	Het;A>G	885;55|45	Het;A>G	1799;94|81	Hom;A>G	5780;2|223